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Gene: CD27 (CD27 molecule) Homo sapiens

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Symbol:

CD27

Name:

CD27 molecule

RGD ID:

1353701

HGNC Page

HGNC:11922

Description:

Enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process and transmembrane signaling receptor activity. Involved in several processes, including adaptive immune memory response involving T cells and B cells; cell surface receptor signaling pathway; and negative regulation of apoptotic process. Is active in plasma membrane. Implicated in lymphoproliferative syndrome 2.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CD27 antigen; CD27L receptor; MGC20393; S152; S152. LPFS2; T cell activation antigen CD27; T cell activation antigen S152; T-cell activation antigen CD27; T14; TNFRSF7; Tp55; tumor necrosis factor receptor superfamily member 7; tumor necrosis factor receptor superfamily, member 7

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cd27 (CD27 antigen)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cd27 (CD27 molecule)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cd27 (CD27 molecule)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CD27 (CD27 molecule)	NCBI	Ortholog
Canis lupus familiaris (dog):	CD27 (CD27 molecule)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cd27 (CD27 molecule)	NCBI	Ortholog
Sus scrofa (pig):	CD27 (CD27 molecule)	HGNC	EggNOG, Ensembl, NCBI, OMA, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CD27 (CD27 molecule)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cd27 (CD27 molecule)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	TAPBPL (TAP binding protein like)	HGNC	Treefam
Alliance orthologs ³
Mus musculus (house mouse):	Cd27 (CD27 antigen)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Cd27 (CD27 molecule)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cd27 (CD27 molecule)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|ZFIN)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	6,443,892 - 6,451,713 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	6,444,955 - 6,451,718 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	6,553,058 - 6,560,879 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	6,424,312 - 6,431,145 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	6,424,326 - 6,431,144	NCBI
Celera	12	8,170,942 - 8,177,775 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	6,408,240 - 6,415,073 (+)	NCBI		HuRef
CHM1_1	12	6,552,929 - 6,559,762 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	6,454,276 - 6,462,105 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

RGD Manual Disease Annotations Click to see Annotation Detail View

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	Alcoholic Liver Diseases		ISO	RGD:1560499	1581860		RGD

Imported Disease Annotations - ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	Chediak-Higashi syndrome		IAGP	RGD:153305873	8554872	ClinVar Annotator: match by term: Autoinflammatory syndrome	ClinVar	PMID:25741868
CD27	Human	Chediak-Higashi syndrome		IAGP	RGD:13481570\|RGD:13501811\|RGD:15133098\|RGD:26922833\|RGD:38482995	8554872	ClinVar Annotator: match by term: Autoinflammatory syndrome	ClinVar	PMID:25741868\|PMID:28492532
CD27	Human	combined immunodeficiency		IAGP	RGD:25327499	8554872	ClinVar Annotator: match by term: Combined immunodeficiency	ClinVar	PMID:25741868
CD27	Human	combined immunodeficiency		IAGP	RGD:25327500	8554872	ClinVar Annotator: match by term: Combined immunodeficiency	ClinVar	PMID:25741868\|PMID:25843314\|PMID:28492532\|PMID:32499645
CD27	Human	combined T cell and B cell immunodeficiency		IAGP	RGD:25327499	8554872	ClinVar Annotator: match by term: Combined T and B cell immunodeficiency	ClinVar	PMID:25741868
CD27	Human	combined T cell and B cell immunodeficiency		IAGP	RGD:25327500	8554872	ClinVar Annotator: match by term: Combined T and B cell immunodeficiency	ClinVar	PMID:25741868\|PMID:25843314\|PMID:28492532\|PMID:32499645
CD27	Human	genetic disease		IAGP	RGD:126759910\|RGD:126909351\|RGD:14719804\|RGD:151757527\|RGD:151797520\|RGD:151818875\|RGD:151845165\|RGD:156177498\|RGD:156317356\|RGD:26886643\|RGD:26889118\|RGD:38471644\|RGD:38488834	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
CD27	Human	genetic disease		IAGP	RGD:156167054\|RGD:401761575\|RGD:405759410\|RGD:405759416\|RGD:597631456	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
CD27	Human	Hyperphosphatemic Familial Tumoral Calcinosis 1		IAGP	RGD:14395239	8554872	ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1	ClinVar	PMID:25378588\|PMID:29389098
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:8604539	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:22197273
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:126757050\|RGD:126759910\|RGD:126769597\|RGD:126770593\|RGD:126771620\|RGD:126771924\|RGD:126772531\|RGD:126774575\|RGD:126909351\|RGD:126912023\|RGD:126912118\|RGD:126914132\|RGD:126918501\|RGD:126924566\|RGD:127233184\|RGD:127248220\|RGD:127258553\|RGD:127266883\|RGD:127268183\|RGD:127277655\|RGD:127280705\|RGD:127297792\|RGD:127305864\|RGD:127310353\|RGD:127310817\|RGD:127313594\|RGD:127317310\|RGD:127320776\|RGD:127321981\|RGD:127330362\|RGD:127331088\|RGD:127331609\|RGD:127334811\|RGD:127336081\|RGD:13474578\|RGD:13486844\|RGD:13623479\|RGD:13623481\|RGD:13815034\|RGD:14699116\|RGD:14719457\|RGD:14719804\|RGD:14723385\|RGD:14736780\|RGD:14738354\|RGD:14739209\|RGD:14739671\|RGD:14745309\|RGD:151747280\|RGD:151757527\|RGD:151766612\|RGD:151781909\|RGD:151792195\|RGD:151797520\|RGD:151816557\|RGD:151818875\|RGD:151822257\|RGD:151822650\|RGD:151826557\|RGD:15182991\|RGD:151845165\|RGD:151846261\|RGD:151850101\|RGD:151870068\|RGD:151881874\|RGD:151881943\|RGD:151884274\|RGD:151888181\|RGD:15195800\|RGD:152038357\|RGD:152063970\|RGD:152074427\|RGD:152076431\|RGD:152076715\|RGD:152096746\|RGD:152146741\|RGD:152160438\|RGD:152163225\|RGD:152168266\|RGD:152169910\|RGD:155911003\|RGD:155930193\|RGD:156011794\|RGD:156025565\|RGD:156029029\|RGD:156080734\|RGD:156096476\|RGD:156115106\|RGD:156119885\|RGD:156127083\|RGD:156152575\|RGD:156158852\|RGD:156168032\|RGD:156177498\|RGD:156185707\|RGD:156206815\|RGD:156219289\|RGD:156219640\|RGD:156224280\|RGD:156235182\|RGD:156249106\|RGD:156255080\|RGD:156307760\|RGD:156317356\|RGD:156336008\|RGD:156341239\|RGD:156359386\|RGD:156371714\|RGD:156373797\|RGD:156383981\|RGD:156414975\|RGD:156435355\|RGD:156436640\|RGD:156436831\|RGD:156444549\|RGD:156446135\|RGD:26886643\|RGD:26889118\|RGD:26896831\|RGD:26896900\|RGD:26914600\|RGD:38458409\|RGD:38467894	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:126768196\|RGD:127310618\|RGD:13481570\|RGD:13501811\|RGD:13623480\|RGD:13801410\|RGD:14716213\|RGD:15133098\|RGD:155664271\|RGD:26905037\|RGD:26922833\|RGD:38482995	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:25741868\|PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:597971003	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:28492532\|PMID:32603431
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:13623424\|RGD:13807971\|RGD:156009074\|RGD:156394167\|RGD:28881433\|RGD:405058821\|RGD:597834769\|RGD:597933487\|RGD:597976215	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:25843314\|PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:597937698	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:28492532\|PMID:34170459
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:38471644\|RGD:38482816\|RGD:38486014\|RGD:38488834\|RGD:38488883\|RGD:38491301\|RGD:38496597\|RGD:404977440\|RGD:405047753\|RGD:405047941\|RGD:405048096\|RGD:405049825\|RGD:405050505\|RGD:405050683\|RGD:405051992\|RGD:405053107\|RGD:405056068\|RGD:405056211\|RGD:405056527\|RGD:405056583\|RGD:405056648\|RGD:405056735\|RGD:405057833\|RGD:405058634\|RGD:405062237\|RGD:405062268\|RGD:405080956\|RGD:405158832\|RGD:405159314\|RGD:405159622\|RGD:405161108\|RGD:405161362\|RGD:405163557\|RGD:405165042\|RGD:405215288\|RGD:405872071\|RGD:597859703\|RGD:597863426\|RGD:597888887\|RGD:597889158\|RGD:597901956\|RGD:597906582\|RGD:597919532\|RGD:597950428\|RGD:597950751\|RGD:597963359\|RGD:597963747\|RGD:597966406	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:127289765	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:25741868\|PMID:25843314\|PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:151778700\|RGD:26916175	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:17576681\|PMID:28492532\|PMID:9536098
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:405053370	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:8604540	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:22801960\|PMID:28492532\|PMID:30293248\|PMID:32603431\|PMID:32888943
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:25327500	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:25741868\|PMID:25843314\|PMID:28492532\|PMID:32499645
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:151863246	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:25640679\|PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:151662779	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:22197273\|PMID:25741868
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:405872075	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:16199547\|PMID:25843314\|PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:405872079	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:25640679\|PMID:25843314\|PMID:28492532
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:12895970	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:24033266\|PMID:25741868
CD27	Human	lymphoproliferative syndrome 2		IAGP	RGD:12896849	8554872	ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532
CD27	Human	peroxisome biogenesis disorder 2B		IAGP	RGD:26906232	8554872	ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B	ClinVar	PMID:28492532
CD27	Human	Temtamy syndrome		IAGP	RGD:126922868\|RGD:151759077	8554872	ClinVar Annotator: match by term: Temtamy syndrome	ClinVar	PMID:28492532

Imported Disease Annotations - CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	Cachexia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:17878525
CD27	Human	dilated cardiomyopathy		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12031769
CD27	Human	myocarditis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12031769
CD27	Human	viral infectious disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12031769

Imported Disease Annotations - OMIM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	lymphoproliferative syndrome 2		IAGP		7240710		OMIM

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	1,2-dichloroethane	decreases expression	ISO	RGD:1556981	6480464	ethylene dichloride results in decreased expression of CD27 mRNA	CTD	PMID:28960355
CD27	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:1556981	6480464	1,2-Dimethylhydrazine results in increased expression of CD27 mRNA	CTD	PMID:22206623
CD27	Human	17beta-estradiol	decreases expression	ISO	RGD:1556981	6480464	Estradiol results in decreased expression of CD27 mRNA	CTD	PMID:19484750
CD27	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1556981	6480464	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to CD27 promoter]	CTD	PMID:19654925
CD27	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1560499	6480464	Tetrachlorodibenzodioxin affects the expression of CD27 mRNA	CTD	PMID:34747641
CD27	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1556981	6480464	Tetrachlorodibenzodioxin results in increased expression of CD27 mRNA	CTD	PMID:27913140
CD27	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1560499	6480464	Tetrachlorodibenzodioxin results in increased expression of CD27 mRNA	CTD	PMID:27913140
CD27	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	EXP		6480464	Tetrachlorodibenzodioxin results in increased expression of CD27 mRNA	CTD	PMID:27913140
CD27	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1556981	6480464	Tetrachlorodibenzodioxin affects the expression of CD27 mRNA	CTD	PMID:21570461
CD27	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	affects expression	ISO	RGD:1556981	6480464	2,2',4,4',5-brominated diphenyl ether affects the expression of CD27 mRNA	CTD	PMID:38648751
CD27	Human	3-chloropropane-1,2-diol	increases expression	EXP		6480464	alpha-Chlorohydrin results in increased expression of CD27 mRNA	CTD	PMID:28070108
CD27	Human	4,4'-sulfonyldiphenol	decreases methylation	ISO	RGD:1556981	6480464	bisphenol S results in decreased methylation of CD27 exon	CTD	PMID:33297965
CD27	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	RGD:1556981	6480464	bisphenol S affects the methylation of CD27 gene	CTD	PMID:31683443
CD27	Human	4,4'-sulfonyldiphenol	affects expression	EXP		6480464	bisphenol S affects the expression of CD27 mRNA	CTD	PMID:33312107
CD27	Human	4,4'-sulfonyldiphenol	increases expression	EXP		6480464	bisphenol S results in increased expression of CD27 mRNA	CTD	PMID:33312107
CD27	Human	acetamide	increases expression	ISO	RGD:1560499	6480464	acetamide results in increased expression of CD27 mRNA	CTD	PMID:31881176
CD27	Human	all-trans-retinoic acid	multiple interactions	ISO	RGD:1556981	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in increased expression of CD27 mRNA	CTD	PMID:36189433
CD27	Human	alpha-Zearalanol	multiple interactions	ISO	RGD:1560499	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of CD27 mRNA	CTD	PMID:35163327
CD27	Human	alpha-Zearalanol	increases expression	ISO	RGD:1560499	6480464	Zeranol results in increased expression of CD27 mRNA	CTD	PMID:35163327
CD27	Human	amphetamine	decreases expression	ISO	RGD:1560499	6480464	Amphetamine results in decreased expression of CD27 mRNA	CTD	PMID:30779732
CD27	Human	arsane	affects expression	EXP		6480464	Arsenic affects the expression of CD27 protein	CTD	PMID:24675094
CD27	Human	arsane	decreases methylation	EXP		6480464	Arsenic results in decreased methylation of CD27 gene	CTD	PMID:27838757
CD27	Human	arsenic atom	affects expression	EXP		6480464	Arsenic affects the expression of CD27 protein	CTD	PMID:24675094
CD27	Human	arsenic atom	decreases methylation	EXP		6480464	Arsenic results in decreased methylation of CD27 gene	CTD	PMID:27838757
CD27	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of CD27 mRNA	CTD	PMID:17530438
CD27	Human	benzo[a]pyrene	decreases expression	ISO	RGD:1556981	6480464	Benzo(a)pyrene results in decreased expression of CD27 mRNA	CTD	PMID:21569818
CD27	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of CD27 exon; Benzo(a)pyrene affects the methylation of CD27 promoter	CTD	PMID:27901495
CD27	Human	bis(2-chloroethyl) sulfide	increases expression	ISO	RGD:1556981	6480464	Mustard Gas results in increased expression of CD27 mRNA	CTD	PMID:15674843
CD27	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	RGD:1556981	6480464	Diethylhexyl Phthalate results in increased expression of CD27 mRNA	CTD	PMID:34319233
CD27	Human	bisphenol A	decreases expression	ISO	RGD:1560499	6480464	bisphenol A results in decreased expression of CD27 mRNA	CTD	PMID:25181051
CD27	Human	bisphenol A	decreases expression	ISO	RGD:1556981	6480464	bisphenol A results in decreased expression of CD27 mRNA	CTD	PMID:32156529
CD27	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of CD27 mRNA	CTD	PMID:33312107
CD27	Human	bortezomib	increases expression	EXP		6480464	Bortezomib results in increased expression of CD27 mRNA	CTD	PMID:17895889
CD27	Human	buta-1,3-diene	decreases expression	ISO	RGD:1556981	6480464	1,3-butadiene results in decreased expression of CD27 mRNA	CTD	PMID:29038090
CD27	Human	cadmium dichloride	decreases expression	ISO	RGD:1556981	6480464	Cadmium Chloride results in decreased expression of CD27 mRNA	CTD	PMID:15501611
CD27	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to CD27 gene]	CTD	PMID:28238834
CD27	Human	cisplatin	increases expression	ISO	RGD:1556981	6480464	Cisplatin results in increased expression of CD27 mRNA	CTD	PMID:26546572
CD27	Human	cyclophosphamide	decreases expression	ISO	RGD:1556981	6480464	Cyclophosphamide results in decreased expression of CD27 mRNA	CTD	PMID:21041162
CD27	Human	dexamethasone	decreases expression	ISO	RGD:1556981	6480464	Dexamethasone results in decreased expression of CD27 mRNA	CTD	PMID:21041162
CD27	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of CD27 mRNA	CTD	PMID:17530438
CD27	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of CD27 mRNA	CTD	PMID:37042841
CD27	Human	diethylstilbestrol	decreases expression	ISO	RGD:1556981	6480464	Diethylstilbestrol results in decreased expression of CD27 mRNA	CTD	PMID:21041162
CD27	Human	ethanol	decreases expression	ISO	RGD:1560499	6480464	Ethanol results in decreased expression of CD27 mRNA	CTD	PMID:16698589
CD27	Human	folic acid	decreases expression	ISO	RGD:1556981	6480464	Folic Acid results in decreased expression of CD27 mRNA	CTD	PMID:25629700
CD27	Human	genistein	decreases expression	ISO	RGD:1556981	6480464	Genistein results in decreased expression of CD27 mRNA	CTD	PMID:32186404
CD27	Human	hydroxychloroquine	multiple interactions	EXP		6480464	[Hydroxychloroquine co-treated with Methotrexate co-treated with Sulfasalazine] results in decreased expression of CD27 mRNA	CTD	PMID:28863153
CD27	Human	isoflurane	decreases expression	ISO	RGD:1560499	6480464	Isoflurane results in decreased expression of CD27 mRNA	CTD	PMID:16978161
CD27	Human	lead diacetate	decreases expression	ISO	RGD:1556981	6480464	lead acetate results in decreased expression of CD27 mRNA	CTD	PMID:21829687
CD27	Human	lead diacetate	increases expression	ISO	RGD:1556981	6480464	lead acetate results in increased expression of CD27 mRNA	CTD	PMID:20542052
CD27	Human	Licochalcone B	increases expression	EXP		6480464	licochalcone B results in increased expression of CD27 mRNA	CTD	PMID:33647349
CD27	Human	methotrexate	multiple interactions	EXP		6480464	[Hydroxychloroquine co-treated with Methotrexate co-treated with Sulfasalazine] results in decreased expression of CD27 mRNA	CTD	PMID:28863153
CD27	Human	mono(2-ethylhexyl) phthalate	multiple interactions	ISO	RGD:1556981	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in increased expression of CD27 mRNA	CTD	PMID:36189433
CD27	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of CD27 mRNA	CTD	PMID:24768652\|PMID:25583101
CD27	Human	niclosamide	increases expression	EXP		6480464	Niclosamide results in increased expression of CD27 mRNA	CTD	PMID:36318118
CD27	Human	nitrates	multiple interactions	ISO	RGD:1556981	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of CD27 more ...	CTD	PMID:35964746
CD27	Human	nitrofen	decreases expression	ISO	RGD:1560499	6480464	nitrofen results in decreased expression of CD27 mRNA	CTD	PMID:33484710
CD27	Human	ozone	multiple interactions	ISO	RGD:1556981	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in decreased more ...	CTD	PMID:34911549
CD27	Human	p-menthan-3-ol	increases expression	EXP		6480464	Menthol results in increased expression of CD27 mRNA	CTD	PMID:26760959
CD27	Human	paracetamol	increases expression	ISO	RGD:1560499	6480464	Acetaminophen results in increased expression of CD27 mRNA	CTD	PMID:33387578
CD27	Human	paraquat	decreases expression	EXP		6480464	Paraquat results in decreased expression of CD27 mRNA	CTD	PMID:18836921
CD27	Human	pentobarbital	decreases expression	ISO	RGD:1560499	6480464	Pentobarbital results in decreased expression of CD27 mRNA	CTD	PMID:16978161
CD27	Human	perfluorooctanoic acid	multiple interactions	ISO	RGD:1560499	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of CD27 mRNA	CTD	PMID:35163327
CD27	Human	phenobarbital	affects expression	ISO	RGD:1556981	6480464	Phenobarbital affects the expression of CD27 mRNA	CTD	PMID:19136022
CD27	Human	PhIP	increases expression	EXP		6480464	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine results in increased expression of CD27 mRNA	CTD	PMID:20816883
CD27	Human	pirinixic acid	decreases expression	ISO	RGD:1556981	6480464	pirinixic acid results in decreased expression of CD27 mRNA	CTD	PMID:17950772
CD27	Human	pirinixic acid	affects expression	ISO	RGD:1556981	6480464	pirinixic acid affects the expression of CD27 mRNA	CTD	PMID:19136022
CD27	Human	poly(propylene imine) macromolecule	decreases expression	EXP		6480464	poly(propyleneimine) analog results in decreased expression of CD27 mRNA	CTD	PMID:16308212
CD27	Human	pyrethrins	decreases expression	EXP		6480464	Pyrethrins results in decreased expression of CD27 mRNA	CTD	PMID:35321623
CD27	Human	silicon dioxide	increases expression	ISO	RGD:1556981	6480464	Silicon Dioxide results in increased expression of CD27 mRNA	CTD	PMID:29341224
CD27	Human	simvastatin	decreases expression	EXP		6480464	Simvastatin results in decreased expression of CD27 mRNA	CTD	PMID:18453621
CD27	Human	sulfasalazine	multiple interactions	EXP		6480464	[Hydroxychloroquine co-treated with Methotrexate co-treated with Sulfasalazine] results in decreased expression of CD27 mRNA	CTD	PMID:28863153
CD27	Human	thioacetamide	increases expression	ISO	RGD:1560499	6480464	Thioacetamide results in increased expression of CD27 mRNA	CTD	PMID:34492290
CD27	Human	titanium dioxide	increases expression	ISO	RGD:1556981	6480464	titanium dioxide results in increased expression of CD27 mRNA	CTD	PMID:35295148
CD27	Human	Tributyltin oxide	decreases expression	ISO	RGD:1556981	6480464	bis(tri-n-butyltin)oxide results in decreased expression of CD27 mRNA	CTD	PMID:18958704
CD27	Human	trichloroethene	decreases expression	EXP		6480464	Trichloroethylene results in decreased expression of CD27 protein	CTD	PMID:20530238
CD27	Human	trichloroethene	increases expression	ISO	RGD:1560499	6480464	Trichloroethylene results in increased expression of CD27 mRNA	CTD	PMID:33387578
CD27	Human	triptonide	increases expression	ISO	RGD:1556981	6480464	triptonide results in increased expression of CD27 mRNA	CTD	PMID:33045310
CD27	Human	troglitazone	decreases expression	ISO	RGD:1556981	6480464	troglitazone results in decreased expression of CD27 mRNA	CTD	PMID:17569031
CD27	Human	trovafloxacin	decreases expression	ISO	RGD:1556981	6480464	trovafloxacin results in decreased expression of CD27 mRNA	CTD	PMID:35537566
CD27	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of CD27 gene	CTD	PMID:29154799
CD27	Human	VX nerve agent	increases expression	EXP		6480464	VX-agent results in increased expression of CD27 mRNA	CTD	PMID:38555327
CD27	Human	zoledronic acid	affects expression	EXP		6480464	zoledronic acid affects the expression of CD27 mRNA	CTD	PMID:19036117

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	adaptive immune memory response involving T cells and B cells	involved_in	IMP		150520179	PMID:28011863	UniProt	PMID:28011863
CD27	Human	apoptotic process	involved_in	IEA	UniProtKB-KW:KW-0053	150520179		UniProt	GO_REF:0000043
CD27	Human	CD27 signaling pathway	involved_in	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	CD27 signaling pathway	involved_in	IDA		150520179	PMID:28011863, PMID:8387892	UniProt	PMID:28011863\|PMID:8387892
CD27	Human	cell surface receptor signaling pathway	involved_in	NAS		150520179	PMID:14556986	UniProt	PMID:14556986
CD27	Human	extrinsic apoptotic signaling pathway	involved_in	IDA		150520179	PMID:9177220	BHF-UCL	PMID:9177220
CD27	Human	immunoglobulin mediated immune response	involved_in	NAS		150520179	PMID:14556986	UniProt	PMID:14556986
CD27	Human	negative regulation of apoptotic process	involved_in	IEA	InterPro:IPR022328	150520179		InterPro	GO_REF:0000002
CD27	Human	negative regulation of apoptotic process	involved_in	IBA	MGI:88326\|PANTHER:PTN002934563\|UniProtKB:P26842	150520179		GO_Central	GO_REF:0000033
CD27	Human	negative regulation of apoptotic process	involved_in	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	negative regulation of apoptotic process	involved_in	IDA		150520179	PMID:12324477	UniProt	PMID:12324477
CD27	Human	negative regulation of T cell apoptotic process	acts_upstream_of_or_within	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	positive regulation of B cell differentiation	involved_in	NAS		150520179	PMID:10809378	UniProt	PMID:10809378
CD27	Human	positive regulation of B cell differentiation	involved_in	IEA	InterPro:IPR022328\|InterPro:IPR034000	150520179		InterPro	GO_REF:0000002
CD27	Human	positive regulation of JNK cascade	involved_in	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	positive regulation of JNK cascade	involved_in	ISS	UniProtKB:P41272	150520179		UniProt	GO_REF:0000024
CD27	Human	positive regulation of non-canonical NF-kappaB signal transduction	involved_in	NAS		150520179	PMID:12324477	UniProt	PMID:12324477
CD27	Human	positive regulation of T cell differentiation	involved_in	IEA	InterPro:IPR022328\|InterPro:IPR034000	150520179		InterPro	GO_REF:0000002
CD27	Human	response to ethanol		ISO	RGD:1560499	9068941		RGD	PMID:16698589\|REF_RGD_ID:1581860
CD27	Human	response to ethanol	involved_in	IEA	UniProtKB:Q501W2\|ensembl:ENSRNOP00000103817	150520179		Ensembl	GO_REF:0000107
CD27	Human	T cell activation	involved_in	IDA		150520179	PMID:28011863	UniProt	PMID:28011863

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	cell surface	located_in	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	external side of plasma membrane	located_in	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	external side of plasma membrane	is_active_in	IBA	MGI:88326\|PANTHER:PTN002934563	150520179		GO_Central	GO_REF:0000033
CD27	Human	extracellular region	located_in	NAS		150520179	PMID:12624711	UniProt	PMID:12624711
CD27	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
CD27	Human	plasma membrane	located_in	NAS		150520179	PMID:12324477	UniProt	PMID:12324477
CD27	Human	plasma membrane	is_active_in	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	plasma membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-5669024
CD27	Human	plasma membrane	is_active_in	IDA		150520179	PMID:28011863	UniProt	PMID:28011863
CD27	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
CD27	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	enables	IDA		150520179	PMID:12324477	UniProt	PMID:12324477
CD27	Human	protein binding	enables	IPI	UniProtKB:Q12933	150520179	PMID:33961781, PMID:9692890	IntAct	PMID:33961781\|PMID:9692890
CD27	Human	protein binding	enables	IPI	UniProtKB:Q7Z699	150520179	PMID:32814053	IntAct	PMID:32814053
CD27	Human	protein binding	enables	IPI	UniProtKB:O15304-1	150520179	PMID:16683188	HGNC-UCL	PMID:16683188
CD27	Human	protein binding	enables	IPI	UniProtKB:Q99828	150520179	PMID:32296183	IntAct	PMID:32296183
CD27	Human	protein binding	enables	IPI	UniProtKB:P32970	150520179	PMID:12324477	UniProt	PMID:12324477
CD27	Human	protein binding	enables	IPI	UniProtKB:O15304	150520179	PMID:16683188, PMID:9177220	HGNC-UCL	PMID:16683188\|PMID:9177220
CD27	Human	protein binding	enables	IPI	UniProtKB:P35609	150520179	PMID:25910212	IntAct	PMID:25910212
CD27	Human	protein binding	enables	IPI	UniProtKB:P0DTD1-PRO_0000449624	150520179	PMID:36217029	IntAct	PMID:36217029
CD27	Human	transmembrane signaling receptor activity	enables	IDA		150520179	PMID:28011863	UniProt	PMID:28011863
CD27	Human	transmembrane signaling receptor activity	enables	IEA	UniProtKB:P41272\|ensembl:ENSMUSP00000032486	150520179		Ensembl	GO_REF:0000107
CD27	Human	transmembrane signaling receptor activity	enables	NAS		150520179	PMID:14556986	UniProt	PMID:14556986
CD27	Human	transmembrane signaling receptor activity	enables	IEA	InterPro:IPR022328	150520179		InterPro	GO_REF:0000002

Phenotype Annotations Click to see Annotation Detail View

Imported Human Phenotype Annotations - HPO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	Aplastic anemia		IAGP		8699517		HPO	MIM:615122\|PMID:25843314\|PMID:22197273
CD27	Human	Ascites		IAGP		8699517		HPO	MIM:615122
CD27	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:615122\|PMID:22197273
CD27	Human	Decreased circulating antibody concentration		IAGP		8699517		HPO	MIM:615122\|PMID:25843314\|PMID:22197273
CD27	Human	Decreased lymphocyte proliferation in response to mitogen		IAGP		8699517		HPO	MIM:615122\|PMID:22197273
CD27	Human	EBV encephalitis		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	EBV meningitis		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Fever		IAGP		8699517		HPO	MIM:615122\|PMID:25843314\|PMID:22197273
CD27	Human	Hemophagocytosis		IAGP		8699517		HPO	MIM:615122\|PMID:25843314\|PMID:22801960
CD27	Human	Hepatomegaly		IAGP		8699517		HPO	MIM:615122\|PMID:22197273
CD27	Human	Hepatosplenomegaly		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Hodgkin lymphoma		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Lymphadenopathy		IAGP		8699517		HPO	MIM:615122\|PMID:25843314\|PMID:22197273
CD27	Human	Lymphoma		IAGP		8699517		HPO	MIM:615122\|PMID:22801960
CD27	Human	Lymphoproliferative disorder		IAGP		8699517		HPO	MIM:615122\|PMID:25843314\|PMID:22801960
CD27	Human	Oral ulcer		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Pancytopenia		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Persistent EBV viremia		IAGP		8699517		HPO	MIM:615122\|PMID:25843314\|PMID:22197273
CD27	Human	Recurrent infections		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Recurrent pneumonia		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Sepsis		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Severe varicella zoster infection		IAGP		8699517		HPO	MIM:615122\|PMID:25843314
CD27	Human	Splenomegaly		IAGP		8699517		HPO	MIM:615122\|PMID:22197273
CD27	Human	Uveitis		IAGP		8699517		HPO	MIM:615122\|PMID:25843314

Imported Human Phenotype Annotations - ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CD27	Human	Combined immunodeficiency		IAGP	RGD:25327499	8554872	ClinVar Annotator: match by term: Combined immunodeficiency	ClinVar	PMID:25741868
CD27	Human	Combined immunodeficiency		IAGP	RGD:25327500	8554872	ClinVar Annotator: match by term: Combined immunodeficiency	ClinVar	PMID:25741868\|PMID:25843314\|PMID:28492532\|PMID:32499645
CD27	Human	Immunodeficiency		IAGP	RGD:25327499	8554872	ClinVar Annotator: match by term: Immunodeficiency	ClinVar	PMID:25741868
CD27	Human	Immunodeficiency		IAGP	RGD:25327500	8554872	ClinVar Annotator: match by term: Immunodeficiency	ClinVar	PMID:25741868\|PMID:25843314\|PMID:28492532\|PMID:32499645

Disease Annotations Click to see Annotation Detail View

Alcoholic Liver Diseases (ISO)

Cachexia (EXP)

Chediak-Higashi syndrome (IAGP)

combined immunodeficiency (IAGP)

combined T cell and B cell immunodeficiency (IAGP)

dilated cardiomyopathy (EXP)

genetic disease (IAGP)

Hyperphosphatemic Familial Tumoral Calcinosis 1 (IAGP)

lymphoproliferative syndrome 2 (IAGP)

myocarditis (EXP)

peroxisome biogenesis disorder 2B (IAGP)

Temtamy syndrome (IAGP)

viral infectious disease (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

3-chloropropane-1,2-diol (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

acetamide (ISO)

all-trans-retinoic acid (ISO)

alpha-Zearalanol (ISO)

amphetamine (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-chloroethyl) sulfide (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bortezomib (EXP)

buta-1,3-diene (ISO)

cadmium dichloride (ISO)

CGP 52608 (EXP)

cisplatin (ISO)

cyclophosphamide (ISO)

dexamethasone (ISO)

diarsenic trioxide (EXP)

Dibutyl phosphate (EXP)

diethylstilbestrol (ISO)

ethanol (ISO)

folic acid (ISO)

genistein (ISO)

hydroxychloroquine (EXP)

isoflurane (ISO)

lead diacetate (ISO)

Licochalcone B (EXP)

methotrexate (EXP)

mono(2-ethylhexyl) phthalate (ISO)

nickel atom (EXP)

niclosamide (EXP)

nitrates (ISO)

nitrofen (ISO)

ozone (ISO)

p-menthan-3-ol (EXP)

paracetamol (ISO)

paraquat (EXP)

pentobarbital (ISO)

perfluorooctanoic acid (ISO)

phenobarbital (ISO)

PhIP (EXP)

pirinixic acid (ISO)

poly(propylene imine) macromolecule (EXP)

pyrethrins (EXP)

silicon dioxide (ISO)

simvastatin (EXP)

sulfasalazine (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

Tributyltin oxide (ISO)

trichloroethene (EXP,ISO)

triptonide (ISO)

troglitazone (ISO)

trovafloxacin (ISO)

valproic acid (EXP)

VX nerve agent (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adaptive immune memory response involving T cells and B cells (IMP)

apoptotic process (IEA)

CD27 signaling pathway (IDA,IEA)

cell surface receptor signaling pathway (NAS)

extrinsic apoptotic signaling pathway (IDA)

immunoglobulin mediated immune response (NAS)

negative regulation of apoptotic process (IBA,IDA,IEA)

negative regulation of T cell apoptotic process (IEA)

positive regulation of B cell differentiation (IEA,NAS)

positive regulation of JNK cascade (IEA,ISS)

positive regulation of non-canonical NF-kappaB signal transduction (NAS)

positive regulation of T cell differentiation (IEA)

response to ethanol (IEA,ISO)

T cell activation (IDA)

Cellular Component

cell surface (IEA)

external side of plasma membrane (IBA,IEA)

extracellular region (NAS)

membrane (IEA)

plasma membrane (IDA,IEA,NAS,TAS)

Molecular Function

cysteine-type endopeptidase inhibitor activity involved in apoptotic process (IDA)

protein binding (IPI)

transmembrane signaling receptor activity (IDA,IEA,NAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Aplastic anemia (IAGP)

Ascites (IAGP)

Autosomal recessive inheritance (IAGP)

Combined immunodeficiency (IAGP)

Decreased circulating antibody concentration (IAGP)

Decreased lymphocyte proliferation in response to mitogen (IAGP)

EBV encephalitis (IAGP)

EBV meningitis (IAGP)

Fever (IAGP)

Hemophagocytosis (IAGP)

Hepatomegaly (IAGP)

Hepatosplenomegaly (IAGP)

Hodgkin lymphoma (IAGP)

Immunodeficiency (IAGP)

Lymphadenopathy (IAGP)

Lymphoma (IAGP)

Lymphoproliferative disorder (IAGP)

Oral ulcer (IAGP)

Pancytopenia (IAGP)

Persistent EBV viremia (IAGP)

Recurrent infections (IAGP)

Recurrent pneumonia (IAGP)

Sepsis (IAGP)

Severe varicella zoster infection (IAGP)

Splenomegaly (IAGP)

Uveitis (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6.	Effect of tea polyphenol on cytokine gene expression in rats with alcoholic liver disease.	Zhang XG, etal., Hepatobiliary Pancreat Dis Int. 2006 May;5(2):268-72.

Additional References at PubMed

PMID:1334106	PMID:1655907	PMID:2442250	PMID:2837508	PMID:7479974	PMID:8120384	PMID:8186199	PMID:8387892	PMID:8530100	PMID:8580829	PMID:9177220	PMID:9263011
PMID:9582383	PMID:9692890	PMID:9767422	PMID:9794406	PMID:9862673	PMID:10809378	PMID:11062504	PMID:11801693	PMID:11976819	PMID:12009595	PMID:12197885	PMID:12324477
PMID:12464570	PMID:12477932	PMID:12624711	PMID:12685844	PMID:12743427	PMID:14556986	PMID:14702039	PMID:15230280	PMID:15301860	PMID:15340161	PMID:15356138	PMID:15489334
PMID:15685542	PMID:15723067	PMID:16272303	PMID:16683188	PMID:16751420	PMID:16802356	PMID:16951333	PMID:17475894	PMID:17548342	PMID:17785788	PMID:17942751	PMID:18005092
PMID:18216294	PMID:18322179	PMID:18512812	PMID:18774388	PMID:19109206	PMID:19290077	PMID:19322201	PMID:19556308	PMID:19698733	PMID:19773279	PMID:19776762	PMID:19866343
PMID:20201989	PMID:20237496	PMID:20377416	PMID:20393787	PMID:20568250	PMID:20699361	PMID:20800603	PMID:20800938	PMID:20879061	PMID:21048031	PMID:21182090	PMID:21237436
PMID:21277898	PMID:21607290	PMID:21873635	PMID:21917027	PMID:21952639	PMID:22087280	PMID:22197273	PMID:22232214	PMID:22280534	PMID:22399187	PMID:22429370	PMID:22801960
PMID:23002119	PMID:23263849	PMID:23376485	PMID:23456842	PMID:23576505	PMID:23594958	PMID:23677477	PMID:23738704	PMID:23747721	PMID:23826263	PMID:24162774	PMID:24286662
PMID:24841128	PMID:24965774	PMID:25006012	PMID:25275127	PMID:25843314	PMID:25910212	PMID:26002513	PMID:26186194	PMID:26439863	PMID:26760575	PMID:26818544	PMID:27467579
PMID:27556155	PMID:27803044	PMID:27857173	PMID:28011863	PMID:28031480	PMID:28055081	PMID:28108506	PMID:28471362	PMID:28514442	PMID:28649984	PMID:30230539	PMID:30423585
PMID:30464201	PMID:30953940	PMID:31523805	PMID:31608054	PMID:32296183	PMID:32814053	PMID:33308178	PMID:33439295	PMID:33827115	PMID:33961781	PMID:34282858	PMID:34419446
PMID:34645483	PMID:35154145	PMID:35958579	PMID:35963463	PMID:36217029	PMID:36508329	PMID:36993956	PMID:37321014	PMID:37584826	PMID:38279834

Genomics

Comparative Map Data

CD27
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	6,443,892 - 6,451,713 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	6,444,955 - 6,451,718 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	6,553,058 - 6,560,879 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	6,424,312 - 6,431,145 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	6,424,326 - 6,431,144	NCBI
Celera	12	8,170,942 - 8,177,775 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	6,408,240 - 6,415,073 (+)	NCBI		HuRef
CHM1_1	12	6,552,929 - 6,559,762 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	6,454,276 - 6,462,105 (+)	NCBI		T2T-CHM13v2.0

Cd27
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	125,209,583 - 125,214,014 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	125,209,585 - 125,213,973 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	125,232,620 - 125,237,136 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	125,232,622 - 125,237,010 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	125,182,640 - 125,187,045 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	125,198,243 - 125,202,629 (-)	NCBI		MGSCv36	mm8
Celera	6	126,902,417 - 126,906,796 (-)	NCBI		Celera
Cytogenetic Map	6	F3	NCBI
cM Map	6	59.32	NCBI

Cd27
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	159,716,932 - 159,721,823 (-)	NCBI		GRCr8
mRatBN7.2	4	158,030,700 - 158,035,862 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	158,030,703 - 158,035,592 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	164,259,921 - 164,264,814 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	160,042,837 - 160,047,730 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	158,681,915 - 158,686,828 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	157,744,881 - 157,751,609 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	157,744,882 - 157,750,088 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	224,761,677 - 224,768,402 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	161,351,797 - 161,356,688 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	146,767,794 - 146,772,685 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Cd27
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	4,103,126 - 4,107,420 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	4,102,740 - 4,107,739 (+)	NCBI	ChiLan1.0	ChiLan1.0

CD27
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	12,005,098 - 12,012,787 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	12,001,856 - 12,009,613 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	6,575,104 - 6,582,127 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	6,492,119 - 6,499,427 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	6,492,119 - 6,499,427 (+)	Ensembl	panpan1.1		panPan2

CD27
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	38,534,704 - 38,537,806 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	38,534,707 - 38,537,604 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	8,078,739 - 8,081,962 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	38,888,425 - 38,891,647 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	38,888,428 - 38,891,506 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	38,761,199 - 38,764,421 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	38,802,623 - 38,805,845 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	7,557,635 - 7,560,858 (+)	NCBI		UU_Cfam_GSD_1.0

Cd27
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	102,644,557 - 102,651,329 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936709	1,312,448 - 1,317,378 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936709	1,312,434 - 1,317,592 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CD27
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	64,196,994 - 64,202,613 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	64,197,594 - 64,202,236 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	66,658,752 - 66,725,927 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CD27
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	6,493,414 - 6,500,062 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	6,493,542 - 6,499,738 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	1,731,987 - 1,738,679 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cd27
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624860	3,199,493 - 3,203,683 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CD27
205 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001242.5(CD27):c.269-9T>C	single nucleotide variant	Autoinflammatory syndrome [RCV002263793]\|Lymphoproliferative syndrome 2 [RCV000529025]	Chr12:6450164 [GRCh38] Chr12:6559330 [GRCh37] Chr12:12p13.31	benign
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3	copy number gain	See cases [RCV000053663]	Chr12:121055..7272606 [GRCh38] Chr12:282465..7425202 [GRCh37] Chr12:100482..7316469 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	copy number gain	See cases [RCV000053660]	Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.225C>T (p.His75=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000548331]	Chr12:6445512 [GRCh38] Chr12:6554678 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.24G>A (p.Trp8Ter)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000033859]	Chr12:6445119 [GRCh38] Chr12:6554285 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.158G>A (p.Cys53Tyr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000033860]\|not provided [RCV001091139]	Chr12:6445445 [GRCh38] Chr12:6554611 [GRCh37] Chr12:12p13.31	pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1	copy number loss	See cases [RCV000052776]	Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22	pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	copy number gain	See cases [RCV000053662]	Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|See cases [RCV000053664]	Chr12:121255..8361746 [GRCh38] Chr12:282465..8514342 [GRCh37] Chr12:100682..8405609 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	copy number gain	See cases [RCV000053666]	Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	copy number gain	See cases [RCV000135350]	Chr12:45740..6945196 [GRCh38] Chr12:147099..7054359 [GRCh37] Chr12:17360..6924620 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	copy number gain	See cases [RCV000136611]	Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	copy number gain	See cases [RCV000137694]	Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	copy number gain	See cases [RCV000139052]	Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	copy number gain	See cases [RCV000139787]	Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	copy number gain	See cases [RCV000141905]	Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	copy number gain	See cases [RCV000142149]	Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	copy number gain	See cases [RCV000240164]	Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	See cases [RCV000447551]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	copy number gain	See cases [RCV000446017]	Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	copy number gain	See cases [RCV000240487]	Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.698= (p.His233=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000553949]	Chr12:6451307 [GRCh38] Chr12:6560473 [GRCh37] Chr12:12p13.31	benign
NC_000012.12:g.(1_3750000)_(5250000_9000000)del	deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697]	Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31	pathogenic\|not provided
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3	copy number gain	See cases [RCV000449191]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3	copy number gain	See cases [RCV000449287]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3	copy number gain	See cases [RCV000446050]	Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3	copy number gain	See cases [RCV000446749]	Chr12:173786..8257049 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001242.5(CD27):c.*15G>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001554851]\|not provided [RCV001613261]\|not specified [RCV000454702]	Chr12:6451407 [GRCh38] Chr12:6451407..6451408 [GRCh38] Chr12:6560573 [GRCh37] Chr12:6560573..6560574 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	copy number gain	See cases [RCV000511580]	Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1	likely pathogenic
NM_001242.5(CD27):c.136+32G>C	single nucleotide variant	not provided [RCV001610964]\|not specified [RCV003399413]	Chr12:6445263 [GRCh38] Chr12:6554429 [GRCh37] Chr12:12p13.31	benign
NC_000012.12:g.6444626C>G	single nucleotide variant	not provided [RCV001691165]	Chr12:6444626 [GRCh38] Chr12:6553792 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	copy number gain	not provided [RCV000767818]	Chr12:237588..8278292 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001242.5(CD27):c.721G>A (p.Glu241Lys)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000812609]\|not provided [RCV004768683]\|not specified [RCV003151157]	Chr12:6451330 [GRCh38] Chr12:6560496 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.7C>T (p.Arg3Trp)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000820894]	Chr12:6445102 [GRCh38] Chr12:6554268 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.353C>A (p.Thr118Asn)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000797930]	Chr12:6450257 [GRCh38] Chr12:6559423 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3	copy number gain	not provided [RCV000848085]	Chr12:6070459..6737675 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.233G>A (p.Arg78Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000804849]	Chr12:6445520 [GRCh38] Chr12:6554686 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.254G>A (p.Arg85Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000824624]	Chr12:6445541 [GRCh38] Chr12:6554707 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:6528194-6606738)x1	copy number loss	not provided [RCV001006480]	Chr12:6528194..6606738 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.320G>A (p.Arg107His)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001226496]	Chr12:6450224 [GRCh38] Chr12:6559390 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	copy number gain	not provided [RCV000846343]	Chr12:173786..8393815 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001242.5(CD27):c.22T>C (p.Trp8Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001247937]	Chr12:6445117 [GRCh38] Chr12:6554283 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.408G>A (p.Leu136=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003104817]	Chr12:6450312 [GRCh38] Chr12:6559478 [GRCh37] Chr12:12p13.31	likely benign
NC_000012.11:g.(?_4368352)_(9027607_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV003105682]	Chr12:4368352..9027607 [GRCh37] Chr12:12p13.32-13.31	uncertain significance
NC_000012.12:g.6444694A>G	single nucleotide variant	not provided [RCV001687538]	Chr12:6444694 [GRCh38] Chr12:6553860 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.429C>T (p.Thr143=)	single nucleotide variant	not provided [RCV000933796]	Chr12:6450333 [GRCh38] Chr12:6559499 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.31(chr12:6523329-6606738)x1	copy number loss	not provided [RCV001006479]	Chr12:6523329..6606738 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438458)_(7362839_?)dup	duplication	Peroxisome biogenesis disorder 2B [RCV001031288]	Chr12:6438458..7362839 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.685G>A (p.Ala229Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001321228]\|not provided [RCV004692492]	Chr12:6451294 [GRCh38] Chr12:6560460 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.200C>G (p.Pro67Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001369570]	Chr12:6445487 [GRCh38] Chr12:6554653 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.603T>G (p.Leu201=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001462605]	Chr12:6450959 [GRCh38] Chr12:6560125 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.175G>A (p.Ala59Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001518348]\|not provided [RCV001685395]\|not specified [RCV003399303]	Chr12:6445462 [GRCh38] Chr12:6554628 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.561C>T (p.Ser187=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001474751]	Chr12:6450917 [GRCh38] Chr12:6560083 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.780C>A (p.Pro260=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001404333]	Chr12:6451389 [GRCh38] Chr12:6560555 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.136+10G>A	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001488092]	Chr12:6445241 [GRCh38] Chr12:6554407 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.406_407del (p.Leu136fs)	deletion	Lymphoproliferative syndrome 2 [RCV005094656]\|not provided [RCV001509419]	Chr12:6450310..6450311 [GRCh38] Chr12:6559476..6559477 [GRCh37] Chr12:12p13.31	pathogenic\|likely pathogenic
NM_001242.5(CD27):c.202G>T (p.Gly68Trp)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001874033]	Chr12:6445489 [GRCh38] Chr12:6554655 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
NM_001242.5(CD27):c.37G>T (p.Gly13Trp)	single nucleotide variant	Inborn genetic diseases [RCV004603097]\|Lymphoproliferative syndrome 2 [RCV001992572]	Chr12:6445132 [GRCh38] Chr12:6554298 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.467C>T (p.Thr156Ile)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001865042]	Chr12:6450559 [GRCh38] Chr12:6559725 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.73A>G (p.Lys25Glu)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001995374]	Chr12:6445168 [GRCh38] Chr12:6554334 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.658+19G>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002128707]	Chr12:6451033 [GRCh38] Chr12:6560199 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.392G>A (p.Arg131Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003115473]	Chr12:6450296 [GRCh38] Chr12:6559462 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.514C>G (p.Arg172Gly)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002296950]	Chr12:6450606 [GRCh38] Chr12:6559772 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.269-15C>A	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002681716]	Chr12:6450158 [GRCh38] Chr12:6559324 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.698A>G (p.His233Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001522852]\|not provided [RCV004707270]\|not specified [RCV000455910]	Chr12:6451307 [GRCh38] Chr12:6560473 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	copy number gain	See cases [RCV000510853]	Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2	pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	copy number gain	See cases [RCV000510961]	Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22	pathogenic
NM_001242.5(CD27):c.562G>A (p.Asp188Asn)	single nucleotide variant	Inborn genetic diseases [RCV003257603]	Chr12:6450918 [GRCh38] Chr12:6560084 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.30C>T (p.Cys10=)	single nucleotide variant	Autoinflammatory syndrome [RCV002263794]\|CD27-related disorder [RCV003980010]\|Lymphoproliferative syndrome 2 [RCV000541336]\|not provided [RCV004707336]	Chr12:6445125 [GRCh38] Chr12:6554291 [GRCh37] Chr12:12p13.31	benign\|likely benign
NM_001242.5(CD27):c.541C>T (p.Gln181Ter)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000651066]\|not provided [RCV004588077]	Chr12:6450897 [GRCh38] Chr12:6560063 [GRCh37] Chr12:12p13.31	pathogenic\|uncertain significance
NM_001242.5(CD27):c.635A>G (p.His212Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000651065]	Chr12:6450991 [GRCh38] Chr12:6560157 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.495C>T (p.Asp165=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000651067]\|not provided [RCV003392498]\|not specified [RCV001816629]	Chr12:6450587 [GRCh38] Chr12:6559753 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.539-9C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000651068]	Chr12:6450886 [GRCh38] Chr12:6560052 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.277G>A (p.Val93Ile)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000697818]	Chr12:6450181 [GRCh38] Chr12:6559347 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	not provided [RCV000683479]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	copy number gain	not provided [RCV000683477]	Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	copy number gain	not provided [RCV000683478]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.239dup (p.His80fs)	duplication	Lymphoproliferative syndrome 2 [RCV000701415]	Chr12:6445525..6445526 [GRCh38] Chr12:6554691..6554692 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.122A>G (p.Gln41Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000705436]	Chr12:6445217 [GRCh38] Chr12:6554383 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
NC_000012.12:g.6444673del	deletion	not provided [RCV001666100]	Chr12:6444665 [GRCh38] Chr12:6553831 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.38G>T (p.Gly13Val)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001070040]	Chr12:6445133 [GRCh38] Chr12:6554299 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	copy number gain	not provided [RCV000767819]	Chr12:189216..8185497 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001242.5(CD27):c.539-6T>C	single nucleotide variant	Autoinflammatory syndrome [RCV002264068]\|CD27-related disorder [RCV003940814]\|Lymphoproliferative syndrome 2 [RCV000898072]	Chr12:6450889 [GRCh38] Chr12:6560055 [GRCh37] Chr12:12p13.31	benign\|likely benign\|uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	pathogenic
NM_001242.5(CD27):c.546A>T (p.Arg182Ser)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000821460]	Chr12:6450902 [GRCh38] Chr12:6560068 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.206T>C (p.Val69Ala)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000811496]\|not provided [RCV004693343]	Chr12:6445493 [GRCh38] Chr12:6554659 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.488T>C (p.Leu163Pro)	single nucleotide variant	Inborn genetic diseases [RCV002538132]\|Lymphoproliferative syndrome 2 [RCV000812770]	Chr12:6450580 [GRCh38] Chr12:6559746 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.712A>G (p.Arg238Gly)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000820169]	Chr12:6451321 [GRCh38] Chr12:6560487 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	copy number gain	not provided [RCV000847209]	Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.154del (p.Asp52fs)	deletion	Lymphoproliferative syndrome 2 [RCV003769019]\|not provided [RCV001091138]	Chr12:6445440 [GRCh38] Chr12:6554606 [GRCh37] Chr12:12p13.31	pathogenic\|likely pathogenic
NM_001242.5(CD27):c.371C>G (p.Pro124Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001238825]\|not provided [RCV000788345]	Chr12:6450275 [GRCh38] Chr12:6559441 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.780_781del (p.Ter261SerextTer?)	deletion	not provided [RCV000788456]	Chr12:6451389..6451390 [GRCh38] Chr12:6560555..6560556 [GRCh37] Chr12:12p13.31	likely pathogenic
NM_001242.5(CD27):c.205G>T (p.Val69Phe)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001228942]	Chr12:6445492 [GRCh38] Chr12:6554658 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.538C>T (p.Pro180Ser)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001239374]	Chr12:6450630 [GRCh38] Chr12:6559796 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.67G>A (p.Ala23Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001221221]	Chr12:6445162 [GRCh38] Chr12:6554328 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.442G>A (p.Val148Ile)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003106355]	Chr12:6450346 [GRCh38] Chr12:6559512 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.12:g.6444640G>A	single nucleotide variant	not provided [RCV001616509]	Chr12:6444640 [GRCh38] Chr12:6553806 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.210C>G (p.Ser70=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001457410]	Chr12:6445497 [GRCh38] Chr12:6554663 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.778C>T (p.Pro260Ser)	single nucleotide variant	Inborn genetic diseases [RCV004033552]\|Lymphoproliferative syndrome 2 [RCV001202894]\|not specified [RCV004690008]	Chr12:6451387 [GRCh38] Chr12:6560553 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.417C>A (p.His139Gln)	single nucleotide variant	Inborn genetic diseases [RCV003259169]\|Lymphoproliferative syndrome 2 [RCV001221429]	Chr12:6450321 [GRCh38] Chr12:6559487 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.396G>A (p.Ser132=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV000934040]	Chr12:6450300 [GRCh38] Chr12:6559466 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.395C>T (p.Ser132Leu)	single nucleotide variant	Inborn genetic diseases [RCV003259048]\|Lymphoproliferative syndrome 2 [RCV001044360]\|not specified [RCV005236557]	Chr12:6450299 [GRCh38] Chr12:6559465 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	copy number gain	not provided [RCV001006470]	Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NC_000012.12:g.6444673dup	duplication	not provided [RCV001666996]	Chr12:6444664..6444665 [GRCh38] Chr12:6553830..6553831 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.413C>T (p.Pro138Leu)	single nucleotide variant	Inborn genetic diseases [RCV004963094]\|Lymphoproliferative syndrome 2 [RCV001067339]	Chr12:6450317 [GRCh38] Chr12:6559483 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.766C>G (p.Pro256Ala)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001218591]	Chr12:6451375 [GRCh38] Chr12:6560541 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.713G>A (p.Arg238Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002264227]\|Lymphoproliferative syndrome 2 [RCV001218735]	Chr12:6451322 [GRCh38] Chr12:6560488 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.269-3C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001056186]	Chr12:6450170 [GRCh38] Chr12:6559336 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.761C>A (p.Pro254Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001237028]	Chr12:6451370 [GRCh38] Chr12:6560536 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.223C>A (p.His75Asn)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001070059]	Chr12:6445510 [GRCh38] Chr12:6554676 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.359G>A (p.Cys120Tyr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001040764]	Chr12:6450263 [GRCh38] Chr12:6559429 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.250dup (p.Cys84fs)	duplication	Combined immunodeficiency [RCV001027555]\|Immunodeficiency [RCV001027556]	Chr12:6445536..6445537 [GRCh38] Chr12:6554702..6554703 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.319C>T (p.Arg107Cys)	single nucleotide variant	Combined immunodeficiency [RCV001027557]\|Immunodeficiency [RCV001027558]\|Lymphoproliferative syndrome 2 [RCV001230251]	Chr12:6450223 [GRCh38] Chr12:6559389 [GRCh37] Chr12:12p13.31	pathogenic\|uncertain significance
NM_001242.5(CD27):c.391C>T (p.Arg131Trp)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001051148]\|not provided [RCV004792675]	Chr12:6450295 [GRCh38] Chr12:6559461 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.37G>A (p.Gly13Arg)	single nucleotide variant	Autoinflammatory syndrome [RCV002264170]\|Lymphoproliferative syndrome 2 [RCV001062830]\|not provided [RCV004693554]\|not specified [RCV001819788]	Chr12:6445132 [GRCh38] Chr12:6554298 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.281G>A (p.Arg94His)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001361758]	Chr12:6450185 [GRCh38] Chr12:6559351 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.31G>A (p.Val11Ile)	single nucleotide variant	Inborn genetic diseases [RCV003264018]\|Lymphoproliferative syndrome 2 [RCV001368424]	Chr12:6445126 [GRCh38] Chr12:6554292 [GRCh37] Chr12:12p13.31	likely benign\|uncertain significance
NM_001242.5(CD27):c.564T>G (p.Asp188Glu)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001345667]	Chr12:6450920 [GRCh38] Chr12:6560086 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438478)_(7362819_?)dup	duplication	Temtamy syndrome [RCV001365174]	Chr12:6438478..7362819 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.148G>A (p.Val50Met)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001322060]	Chr12:6445435 [GRCh38] Chr12:6554601 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.143T>A (p.Phe48Tyr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001345152]	Chr12:6445430 [GRCh38] Chr12:6554596 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.575T>C (p.Ile192Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001347385]	Chr12:6450931 [GRCh38] Chr12:6560097 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.8G>A (p.Arg3Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001369518]	Chr12:6445103 [GRCh38] Chr12:6554269 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.296C>T (p.Thr99Ile)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001345324]	Chr12:6450200 [GRCh38] Chr12:6559366 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6554242)_(6560578_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV001322664]	Chr12:6554242..6560578 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.763G>C (p.Glu255Gln)	single nucleotide variant	Inborn genetic diseases [RCV003365308]\|Lymphoproliferative syndrome 2 [RCV001299632]	Chr12:6451372 [GRCh38] Chr12:6560538 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.15T>A (p.His5Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001367180]	Chr12:6445110 [GRCh38] Chr12:6554276 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.658+7G>C	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001396022]	Chr12:6451021 [GRCh38] Chr12:6560187 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.586T>C (p.Phe196Leu)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001308296]	Chr12:6450942 [GRCh38] Chr12:6560108 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.464G>C (p.Arg155Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001370363]	Chr12:6450556 [GRCh38] Chr12:6559722 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.136+11dup	duplication	Lymphoproliferative syndrome 2 [RCV001519302]	Chr12:6445237..6445238 [GRCh38] Chr12:6554403..6554404 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.408G>C (p.Leu136=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001471689]	Chr12:6450312 [GRCh38] Chr12:6559478 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.147C>T (p.Leu49=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001453140]	Chr12:6445434 [GRCh38] Chr12:6554600 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.354C>G (p.Thr118=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001488592]	Chr12:6450258 [GRCh38] Chr12:6559424 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.381G>A (p.Ser127=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001463979]	Chr12:6450285 [GRCh38] Chr12:6559451 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.714G>A (p.Arg238=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001399309]\|not provided [RCV003394033]	Chr12:6451323 [GRCh38] Chr12:6560489 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.354C>T (p.Thr118=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001409968]\|not provided [RCV003394038]	Chr12:6450258 [GRCh38] Chr12:6559424 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.552G>A (p.Leu184=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001407976]	Chr12:6450908 [GRCh38] Chr12:6560074 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	copy number gain	not provided [RCV001537906]	Chr12:189145..7730395 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001242.5(CD27):c.387C>T (p.Thr129=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001401710]	Chr12:6450291 [GRCh38] Chr12:6559457 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.501G>A (p.Arg167=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001473867]	Chr12:6450593 [GRCh38] Chr12:6559759 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.659-10C>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001467007]	Chr12:6451258 [GRCh38] Chr12:6560424 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.42C>A (p.Thr14=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001503352]	Chr12:6445137 [GRCh38] Chr12:6554303 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.618C>T (p.Ala206=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001484794]	Chr12:6450974 [GRCh38] Chr12:6560140 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.600C>T (p.Phe200=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001429497]	Chr12:6450956 [GRCh38] Chr12:6560122 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.681G>A (p.Glu227=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001456593]	Chr12:6451290 [GRCh38] Chr12:6560456 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	copy number gain	Obesity [RCV001801197]	Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001242.5(CD27):c.490G>C (p.Ala164Pro)	single nucleotide variant	Inborn genetic diseases [RCV003247146]\|Lymphoproliferative syndrome 2 [RCV001928136]	Chr12:6450582 [GRCh38] Chr12:6559748 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	copy number gain	not specified [RCV002052958]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NC_000012.11:g.(?_6438478)_(8756953_?)dup	duplication	not provided [RCV001970781]	Chr12:6438478..8756953 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.386C>G (p.Thr129Ser)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001968786]	Chr12:6450290 [GRCh38] Chr12:6559456 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.98G>A (p.Trp33Ter)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001824244]	Chr12:6445193 [GRCh38] Chr12:6554359 [GRCh37] Chr12:12p13.31	likely pathogenic
GRCh37/hg19 12p13.31(chr12:6530146-7376398)	copy number gain	not specified [RCV002052968]	Chr12:6530146..7376398 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438478)_(8248686_?)dup	duplication	Temtamy syndrome [RCV003120743]\|not provided [RCV001913769]	Chr12:6438478..8248686 [GRCh37] Chr12:12p13.31	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	copy number gain	not specified [RCV002052957]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NC_000012.11:g.(?_6559319)_(6559816_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV001959498]	Chr12:6559319..6559816 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.88A>G (p.Arg30Gly)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001961822]	Chr12:6445183 [GRCh38] Chr12:6554349 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup	duplication	not provided [RCV001943267]	Chr12:6438478..9027607 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.174G>T (p.Lys58Asn)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002020301]	Chr12:6445461 [GRCh38] Chr12:6554627 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.714G>T (p.Arg238Ser)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001876615]	Chr12:6451323 [GRCh38] Chr12:6560489 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.451A>G (p.Met151Val)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002001036]	Chr12:6450543 [GRCh38] Chr12:6559709 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.299C>T (p.Ala100Val)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001887115]	Chr12:6450203 [GRCh38] Chr12:6559369 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.268+3G>A	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001988930]	Chr12:6445558 [GRCh38] Chr12:6554724 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.388G>A (p.Ala130Thr)	single nucleotide variant	Inborn genetic diseases [RCV003289276]\|Lymphoproliferative syndrome 2 [RCV001936612]	Chr12:6450292 [GRCh38] Chr12:6559458 [GRCh37] Chr12:12p13.31	likely benign\|uncertain significance
NM_001242.5(CD27):c.193T>G (p.Cys65Gly)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002030038]	Chr12:6445480 [GRCh38] Chr12:6554646 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.101C>T (p.Ala34Val)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002030387]	Chr12:6445196 [GRCh38] Chr12:6554362 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.155A>G (p.Asp52Gly)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001992347]	Chr12:6445442 [GRCh38] Chr12:6554608 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.568_569insG (p.Ile190fs)	insertion	Lymphoproliferative syndrome 2 [RCV001886241]	Chr12:6450924..6450925 [GRCh38] Chr12:6560090..6560091 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.497T>G (p.Phe166Cys)	single nucleotide variant	Inborn genetic diseases [RCV002551086]\|Lymphoproliferative syndrome 2 [RCV001877080]	Chr12:6450589 [GRCh38] Chr12:6559755 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.671G>A (p.Ser224Asn)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001960302]	Chr12:6451280 [GRCh38] Chr12:6560446 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.208T>C (p.Ser70Pro)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002016460]	Chr12:6445495 [GRCh38] Chr12:6554661 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.448+13C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV001919690]	Chr12:6450365 [GRCh38] Chr12:6559531 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.136+19A>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002210657]	Chr12:6445250 [GRCh38] Chr12:6554416 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.63T>A (p.Thr21=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002210403]	Chr12:6445158 [GRCh38] Chr12:6554324 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.114G>A (p.Leu38=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002151296]	Chr12:6445209 [GRCh38] Chr12:6554375 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.261T>C (p.Cys87=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002170013]	Chr12:6445548 [GRCh38] Chr12:6554714 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.538+14T>C	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002087583]	Chr12:6450644 [GRCh38] Chr12:6559810 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.723G>A (p.Glu241=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002161073]	Chr12:6451332 [GRCh38] Chr12:6560498 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.136+15T>C	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002103696]	Chr12:6445246 [GRCh38] Chr12:6554412 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.539-13C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002161597]	Chr12:6450882 [GRCh38] Chr12:6560048 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.658+12A>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002104195]	Chr12:6451026 [GRCh38] Chr12:6560192 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.538+7T>C	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002121167]	Chr12:6450637 [GRCh38] Chr12:6559803 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.381G>C (p.Ser127=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003117099]	Chr12:6450285 [GRCh38] Chr12:6559451 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.266_267del (p.Ser89fs)	microsatellite	not provided [RCV002275973]	Chr12:6445551..6445552 [GRCh38] Chr12:6554717..6554718 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.734T>A (p.Ile245Asn)	single nucleotide variant	Autoinflammatory syndrome [RCV002264597]	Chr12:6451343 [GRCh38] Chr12:6560509 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	copy number gain	not provided [RCV002472514]	Chr12:173787..8320544 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001242.5(CD27):c.137-17T>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002838724]	Chr12:6445407 [GRCh38] Chr12:6554573 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.569delinsGC (p.Ile190fs)	indel	not provided [RCV002461799]	Chr12:6450925 [GRCh38] Chr12:6560091 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.708C>T (p.Cys236=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002596952]	Chr12:6451317 [GRCh38] Chr12:6560483 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.329G>T (p.Trp110Leu)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003023970]	Chr12:6450233 [GRCh38] Chr12:6559399 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.22T>G (p.Trp8Gly)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002958267]	Chr12:6445117 [GRCh38] Chr12:6554283 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.226C>T (p.His76Tyr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003030294]	Chr12:6445513 [GRCh38] Chr12:6554679 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.572G>A (p.Arg191His)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002647981]	Chr12:6450928 [GRCh38] Chr12:6560094 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.658+18G>A	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002653857]	Chr12:6451032 [GRCh38] Chr12:6560198 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.136+8G>A	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003540245]	Chr12:6445239 [GRCh38] Chr12:6554405 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.201G>A (p.Pro67=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003818168]	Chr12:6445488 [GRCh38] Chr12:6554654 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.779C>T (p.Pro260Leu)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005158281]	Chr12:6451388 [GRCh38] Chr12:6560554 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.117C>T (p.Cys39=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005164424]	Chr12:6445212 [GRCh38] Chr12:6554378 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.441T>A (p.Tyr147Ter)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002734801]	Chr12:6450345 [GRCh38] Chr12:6559511 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.137-20C>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002871047]	Chr12:6445404 [GRCh38] Chr12:6554570 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.561C>G (p.Ser187=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002825256]	Chr12:6450917 [GRCh38] Chr12:6560083 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.399T>G (p.Ser133=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002636924]	Chr12:6450303 [GRCh38] Chr12:6559469 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.246G>C (p.Glu82Asp)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002825527]	Chr12:6445533 [GRCh38] Chr12:6554699 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.744G>A (p.Gln248=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002999057]	Chr12:6451353 [GRCh38] Chr12:6560519 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.658+15A>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002760616]	Chr12:6451029 [GRCh38] Chr12:6560195 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.15T>G (p.His5Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002979811]	Chr12:6445110 [GRCh38] Chr12:6554276 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.280C>G (p.Arg94Gly)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002756725]	Chr12:6450184 [GRCh38] Chr12:6559350 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.166C>T (p.His56Tyr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002829635]	Chr12:6445453 [GRCh38] Chr12:6554619 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.596T>C (p.Met199Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003084433]	Chr12:6450952 [GRCh38] Chr12:6560118 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.448+12G>A	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002890911]	Chr12:6450364 [GRCh38] Chr12:6559530 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.129T>C (p.Cys43=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002594193]	Chr12:6445224 [GRCh38] Chr12:6554390 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.709C>T (p.Pro237Ser)	single nucleotide variant	Inborn genetic diseases [RCV002665098]\|Lymphoproliferative syndrome 2 [RCV003108157]	Chr12:6451318 [GRCh38] Chr12:6560484 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.509C>T (p.Pro170Leu)	single nucleotide variant	Inborn genetic diseases [RCV002929627]	Chr12:6450601 [GRCh38] Chr12:6559767 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.136+19A>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002801867]	Chr12:6445250 [GRCh38] Chr12:6554416 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.713G>C (p.Arg238Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003042653]	Chr12:6451322 [GRCh38] Chr12:6560488 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.674C>T (p.Pro225Leu)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003091598]	Chr12:6451283 [GRCh38] Chr12:6560449 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.696T>G (p.Cys232Trp)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003043927]	Chr12:6451305 [GRCh38] Chr12:6560471 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.571C>T (p.Arg191Cys)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002895196]	Chr12:6450927 [GRCh38] Chr12:6560093 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.200C>T (p.Pro67Leu)	single nucleotide variant	Inborn genetic diseases [RCV002716878]\|Lymphoproliferative syndrome 2 [RCV002716877]	Chr12:6445487 [GRCh38] Chr12:6554653 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.276C>T (p.Leu92=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002938639]	Chr12:6450180 [GRCh38] Chr12:6559346 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.659-6C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003066523]	Chr12:6451262 [GRCh38] Chr12:6560428 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.256del (p.His86fs)	deletion	Lymphoproliferative syndrome 2 [RCV003051666]	Chr12:6445543 [GRCh38] Chr12:6554709 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.411C>T (p.Ser137=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV002609453]	Chr12:6450315 [GRCh38] Chr12:6559481 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.137-10C>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003049753]	Chr12:6445414 [GRCh38] Chr12:6554580 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	copy number gain	Pallister-Killian syndrome [RCV003154827]	Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.1A>G (p.Met1Val)	single nucleotide variant	not specified [RCV003151482]	Chr12:6445096 [GRCh38] Chr12:6554262 [GRCh37] Chr12:12p13.31	uncertain significance
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.426C>T (p.Pro142=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654514]	Chr12:6450330 [GRCh38] Chr12:6559496 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.364C>A (p.Pro122Thr)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654506]	Chr12:6450268 [GRCh38] Chr12:6559434 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.449-16_449-13del	deletion	Lymphoproliferative syndrome 2 [RCV003654464]	Chr12:6450522..6450525 [GRCh38] Chr12:6559688..6559691 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.268+492T>A	single nucleotide variant	not specified [RCV003489253]	Chr12:6446047 [GRCh38] Chr12:6555213 [GRCh37] Chr12:12p13.31	benign
NM_001242.5(CD27):c.762G>A (p.Pro254=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003825361]	Chr12:6451371 [GRCh38] Chr12:6560537 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.222C>T (p.Asp74=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003656039]	Chr12:6445509 [GRCh38] Chr12:6554675 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.651T>C (p.Tyr217=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654699]	Chr12:6451007 [GRCh38] Chr12:6560173 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.538+11T>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654906]	Chr12:6450641 [GRCh38] Chr12:6559807 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.269-7C>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655601]	Chr12:6450166 [GRCh38] Chr12:6559332 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.25C>T (p.Leu9=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655585]	Chr12:6445120 [GRCh38] Chr12:6554286 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.133C>T (p.Pro45Ser)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655712]	Chr12:6445228 [GRCh38] Chr12:6554394 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.505C>G (p.Leu169Val)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003656041]	Chr12:6450597 [GRCh38] Chr12:6559763 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.405C>G (p.Ala135=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655549]	Chr12:6450309 [GRCh38] Chr12:6559475 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.515G>A (p.Arg172Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654926]	Chr12:6450607 [GRCh38] Chr12:6559773 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.539-20T>C	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654669]	Chr12:6450875 [GRCh38] Chr12:6560041 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.269-8T>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003851482]	Chr12:6450165 [GRCh38] Chr12:6559331 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.231C>A (p.Thr77=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655589]	Chr12:6445518 [GRCh38] Chr12:6554684 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.137-8C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654712]	Chr12:6445416 [GRCh38] Chr12:6554582 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.243T>C (p.Cys81=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655779]	Chr12:6445530 [GRCh38] Chr12:6554696 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.479del (p.Met160fs)	deletion	Lymphoproliferative syndrome 2 [RCV003655793]	Chr12:6450571 [GRCh38] Chr12:6559737 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.510T>C (p.Pro170=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655561]	Chr12:6450602 [GRCh38] Chr12:6559768 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.474G>A (p.Gly158=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003655594]	Chr12:6450566 [GRCh38] Chr12:6559732 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.137-5C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003654814]	Chr12:6445419 [GRCh38] Chr12:6554585 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.355G>C (p.Glu119Gln)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003540122]	Chr12:6450259 [GRCh38] Chr12:6559425 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.525T>C (p.Ser175=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003846326]	Chr12:6450617 [GRCh38] Chr12:6559783 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.779C>G (p.Pro260Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003540143]	Chr12:6451388 [GRCh38] Chr12:6560554 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.72C>G (p.Pro24=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003539727]	Chr12:6445167 [GRCh38] Chr12:6554333 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	copy number gain	not specified [RCV003986979]	Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.106G>A (p.Gly36Arg)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003539751]	Chr12:6445201 [GRCh38] Chr12:6554367 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.137-7C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV003540443]	Chr12:6445417 [GRCh38] Chr12:6554583 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.51G>C (p.Gly17=)	single nucleotide variant	CD27-related disorder [RCV003899587]	Chr12:6445146 [GRCh38] Chr12:6554312 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.77G>A (p.Ser26Asn)	single nucleotide variant	Inborn genetic diseases [RCV004433367]	Chr12:6445172 [GRCh38] Chr12:6554338 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.130G>A (p.Glu44Lys)	single nucleotide variant	Inborn genetic diseases [RCV004433366]	Chr12:6445225 [GRCh38] Chr12:6554391 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6438478)_(6950528_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV004578457]	Chr12:6438478..6950528 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6559440)_(6560401_?)del	deletion	Lymphoproliferative syndrome 2 [RCV004578458]	Chr12:6559440..6560401 [GRCh37] Chr12:12p13.31	likely pathogenic
NC_000012.11:g.(?_6554691)_(6560069_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV004578459]	Chr12:6554691..6560069 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.683C>T (p.Pro228Leu)	single nucleotide variant	Inborn genetic diseases [RCV004967707]	Chr12:6451292 [GRCh38] Chr12:6560458 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	copy number gain	not provided [RCV004819308]	Chr12:173787..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001242.5(CD27):c.658+14C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005067694]	Chr12:6451028 [GRCh38] Chr12:6560194 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.207C>T (p.Val69=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005174816]	Chr12:6445494 [GRCh38] Chr12:6554660 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.410del (p.Ser137fs)	deletion	Lymphoproliferative syndrome 2 [RCV005170865]	Chr12:6450314 [GRCh38] Chr12:6559480 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.616G>C (p.Ala206Pro)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005130006]	Chr12:6450972 [GRCh38] Chr12:6560138 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.399del (p.Gln134fs)	deletion	Lymphoproliferative syndrome 2 [RCV005132058]	Chr12:6450303 [GRCh38] Chr12:6559469 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.421C>T (p.Gln141Ter)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005169681]	Chr12:6450325 [GRCh38] Chr12:6559491 [GRCh37] Chr12:12p13.31	pathogenic
NM_001242.5(CD27):c.355G>A (p.Glu119Lys)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005202958]	Chr12:6450259 [GRCh38] Chr12:6559425 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.280C>T (p.Arg94Cys)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005166787]	Chr12:6450184 [GRCh38] Chr12:6559350 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.389C>T (p.Ala130Val)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005190088]	Chr12:6450293 [GRCh38] Chr12:6559459 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.630C>A (p.Phe210Leu)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005135961]	Chr12:6450986 [GRCh38] Chr12:6560152 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.137-4C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005082226]	Chr12:6445420 [GRCh38] Chr12:6554586 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.405C>T (p.Ala135=)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005140387]	Chr12:6450309 [GRCh38] Chr12:6559475 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.658+10A>G	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005127253]	Chr12:6451024 [GRCh38] Chr12:6560190 [GRCh37] Chr12:12p13.31	likely benign
NM_001242.5(CD27):c.764A>T (p.Glu255Val)	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005125377]	Chr12:6451373 [GRCh38] Chr12:6560539 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001242.5(CD27):c.539-15C>T	single nucleotide variant	Lymphoproliferative syndrome 2 [RCV005110471]	Chr12:6450880 [GRCh38] Chr12:6560046 [GRCh37] Chr12:12p13.31	likely benign

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	803
Count of miRNA genes:	479
Interacting mature miRNAs:	528
Transcripts:	ENST00000266557, ENST00000541233
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597208666	GWAS1304740_H	blood protein measurement QTL GWAS1304740 (human)		2e-13	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	12	6448508	6448509	Human
597053459	GWAS1149533_H	multiple sclerosis QTL GWAS1149533 (human)		0.0000006	multiple sclerosis		12	6451407	6451408	Human

Markers in Region

RH17725

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,560,459 - 6,560,587	UniSTS	GRCh37
Build 36	12	6,430,720 - 6,430,848	RGD	NCBI36
Celera	12	8,177,350 - 8,177,478	RGD
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	12	p13	UniSTS
HuRef	12	6,414,648 - 6,414,776	UniSTS
GeneMap99-GB4 RH Map	12	39.88	UniSTS
NCBI RH Map	12	94.1	UniSTS

WI-7129

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,560,567 - 6,560,871	UniSTS	GRCh37
Build 36	12	6,430,828 - 6,431,132	RGD	NCBI36
Celera	12	8,177,458 - 8,177,762	RGD
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	12	p13	UniSTS
HuRef	12	6,414,756 - 6,415,060	UniSTS
GeneMap99-GB4 RH Map	12	41.72	UniSTS
Whitehead-RH Map	12	83.3	UniSTS

TNFRSF7_2819

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	6,560,361 - 6,560,878	UniSTS	GRCh37
Build 36	12	6,430,622 - 6,431,139	RGD	NCBI36
Celera	12	8,177,252 - 8,177,769	RGD
HuRef	12	6,414,550 - 6,415,067	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system
1204	2411	2780	2241	4914	1716	2309	2	618	1939	457	2257	7232	6432	41	3690	1	845	1714	1584	170

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_031995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_182125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_182126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_182127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_182128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011521042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017020232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017020233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017020234	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047429900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY504961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012160	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI225100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI179022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI574192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JA323323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JB239787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF570263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M63928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000266557 ⟹ ENSP00000266557

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,444,955 - 6,451,713 (+)	Ensembl

Ensembl Acc Id:

ENST00000541233

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	6,445,352 - 6,451,718 (+)	Ensembl

RefSeq Acc Id:

NM_001242 ⟹ NP_001233

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
GRCh37	12	6,554,051 - 6,560,884 (+)	ENTREZGENE
Build 36	12	6,424,312 - 6,431,145 (+)	NCBI Archive
HuRef	12	6,408,240 - 6,415,073 (+)	ENTREZGENE
CHM1_1	12	6,552,929 - 6,559,762 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

Sequence:

show sequence

CTTCAAAGGTTGGCTTGCCACCTGAAGCAGCCACTGCCCAGGGGGTGCAAAGAAGAGACAGCAG
CGCCCAGCTTGGAGGTGCTAACTCCAGAGGCCAGCATCAGCAACTGGGCACAGAAAGGAGCCGC
CTGGGCAGGGACCATGGCACGGCCACATCCCTGGTGGCTGTGCGTTCTGGGGACCCTGGTGGGG
CTCTCAGCTACTCCAGCCCCCAAGAGCTGCCCAGAGAGGCACTACTGGGCTCAGGGAAAGCTGT
GCTGCCAGATGTGTGAGCCAGGAACATTCCTCGTGAAGGACTGTGACCAGCATAGAAAGGCTGC
TCAGTGTGATCCTTGCATACCGGGGGTCTCCTTCTCTCCTGACCACCACACCCGGCCCCACTGT
GAGAGCTGTCGGCACTGTAACTCTGGTCTTCTCGTTCGCAACTGCACCATCACTGCCAATGCTG
AGTGTGCCTGTCGCAATGGCTGGCAGTGCAGGGACAAGGAGTGCACCGAGTGTGATCCTCTTCC
AAACCCTTCGCTGACCGCTCGGTCGTCTCAGGCCCTGAGCCCACACCCTCAGCCCACCCACTTA
CCTTATGTCAGTGAGATGCTGGAGGCCAGGACAGCTGGGCACATGCAGACTCTGGCTGACTTCA
GGCAGCTGCCTGCCCGGACTCTCTCTACCCACTGGCCACCCCAAAGATCCCTGTGCAGCTCCGA
TTTTATTCGCATCCTTGTGATCTTCTCTGGAATGTTCCTTGTTTTCACCCTGGCCGGGGCCCTG
TTCCTCCATCAACGAAGGAAATATAGATCAAACAAAGGAGAAAGTCCTGTGGAGCCTGCAGAGC
CTTGTCATTACAGCTGCCCCAGGGAGGAGGAGGGCAGCACCATCCCCATCCAGGAGGATTACCG
AAAACCGGAGCCTGCCTGCTCCCCCTGAGCCAGCACCTGCGGGAGCTGCACTACAGCCCTGGCC
TCCACCCCCACCCCGCCGACCATCCAAGGGAGAGTGAGACCTGGCAGCCACAACTGCAGTCCCA
TCCTCTTGTCAGGGCCCTTTCCTGTGTACACGTGACAGAGTGCCTTTTCGAGACTGGCAGGGAC
GAGGACAAATATGGATGAGGTGGAGAGTGGGAAGCAGGAGCCCAGCCAGCTGCGCCTGCGCTGC
AGGAGGGCGGGGGCTCTGGTTGTAAAACACACTTCCTGCTGCGAAAGACCCACATGCTACAAGA
CGGGCAAAATAAAGTGACAGATGACCACC

hide sequence

RefSeq Acc Id:

NM_001413263 ⟹ NP_001400192

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NM_001413264 ⟹ NP_001400193

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NM_001413265 ⟹ NP_001400194

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NM_001413266 ⟹ NP_001400195

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,443,892 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,454,276 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NM_001413267 ⟹ NP_001400196

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,443,892 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,454,276 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NM_001413268 ⟹ NP_001400197

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,255 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,454,639 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NR_182125

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NR_182126

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NR_182127

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

NR_182128

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI
T2T-CHM13v2.0	12	6,455,340 - 6,462,100 (+)	NCBI

RefSeq Acc Id:

XM_011521042 ⟹ XP_011519344

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,445,593 - 6,451,713 (+)	NCBI

Sequence:

show sequence

ATGGACAAGCATCTGGGGGAGCAAGGCTGGTGACGGGTTTGGGGGTGCAAGGAGGATGACGGGG
CCAAAGCTTTGGCCTTCTTCAAGGCTCACAGCAAGTGGAGCCAATGCTGGGAAATGCGGCACCC
TAGGTGGGGCATGAATTAACGTGGGCAGACATCTAGTATTCCAGGAAAGGGATAAATAGAATTT
GAGGGATTGGTGAGAACGGGTCTATGGATAGGATCAAGACAATAAAATGAGAGAAGTGGCTCTA
TGACCCCAGATTTCGGGCAAGCAACCCCCAACCAATAAACTGACTGTGTTCCCAGAGTGCACAT
GTGCAGGTTGGCCATTGGGAATTTGGAATACATCTTTCTAAGGAAATAACAAAGCAACCCAATA
GGTAACAACCTTTTTTTGCACAAAAGCCAATTTGAGAAAATGAGTATGTATGTAGCCTGTGTTT
TTATTTTATAGTTCCAAAAAAAAAGGTTTTTTTTAAACTAAGAAGTATAATATCTGCAGTTGTG
CTTATGAATGCTGTTATTATTTCTCCATCTTCGCTACAATTTCAGAAACTACGGCCAGTATACA
CTAGAATAGCAGGCTTTAAAGTGGCCCCTTTGAACAAATGTTCTCTAGCAAGACACTTTTTAGA
ACCAGGTCTTCTCGTTCGCAACTGCACCATCACTGCCAATGCTGAGTGTGCCTGTCGCAATGGC
TGGCAGTGCAGGGACAAGGAGTGCACCGAGTGTGATCCTCTTCCAAACCCTTCGCTGACCGCTC
GGTCGTCTCAGGCCCTGAGCCCACACCCTCAGCCCACCCACTTACCTTATGTCAGTGAGATGCT
GGAGGCCAGGACAGCTGGGCACATGCAGACTCTGGCTGACTTCAGGCAGCTGCCTGCCCGGACT
CTCTCTACCCACTGGCCACCCCAAAGATCCCTGTGCAGCTCCGATTTTATTCGCATCCTTGTGA
TCTTCTCTGGAATGTTCCTTGTTTTCACCCTGGCCGGGGCCCTGTTCCTCCATCAACGAAGGAA
ATATAGATCAAACAAAGGAGAAAGTCCTGTGGAGCCTGCAGAGCCTTGTCATTACAGCTGCCCC
AGGGAGGAGGAGGGCAGCACCATCCCCATCCAGGAGGATTACCGAAAACCGGAGCCTGCCTGCT
CCCCCTGAGCCAGCACCTGCGGGAGCTGCACTACAGCCCTGGCCTCCACCCCCACCCCGCCGAC
CATCCAAGGGAGAGTGAGACCTGGCAGCCACAACTGCAGTCCCATCCTCTTGTCAGGGCCCTTT
CCTGTGTACACGTGACAGAGTGCCTTTTCGAGACTGGCAGGGACGAGGACAAATATGGATGAGG
TGGAGAGTGGGAAGCAGGAGCCCAGCCAGCTGCGCCTGCGCTGCAGGAGGGCGGGGGCTCTGGT
TGTAAAACACACTTCCTGCTGCGAAAGACCCACATGCTACAAGACGGGCAAAATAAAGTGACAG
ATGACCACCC

hide sequence

RefSeq Acc Id:

XM_017020234 ⟹ XP_016875723

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,955 - 6,451,713 (+)	NCBI

Sequence:

show sequence

AATACTCTCCCCAGCACACGGAAGGGGAAGGGGGTGGAGGTTGCTGCTATGAGAGAGAAAAAAA
AAACAGCCACAATAGAGATTCTGCCTTCAAAGGTTGGCTTGCCACCTGAAGCAGCCACTGCCCA
GGGGGTGCAAAGAAGAGACAGCAGCGCCCAGCTTGGAGGTGCTAACTCCAGAGGCCAGCATCAG
CAACTGGGCACAGAAAGGAGCCGCCTGGGCAGGGACCATGGCACGGCCACATCCCTGGTGGCTG
TGCGTTCTGGGGACCCTGGTGGGGCTCTCAGCTACTCCAGCCCCCAAGAGCTGCCCAGAGAGGC
ACTACTGGGCTCAGGGAAAGCTGTGCTGCCAGATGTGTGAGCCAGGAACATTCCTCGTGAAGGA
CTGTGACCAGCATAGAAAGGCTGCTCAGTGTGATCCTTGCATACCGGGGGTCTCCTTCTCTCCT
GACCACCACACCCGGCCCCACTGTGAGAGCTGTCGGCACTGTAACTCTGGTCTTCTCGTTCGCA
ACTGCACCATCACTGCCAATGCTGAGTGTGCCTGTCGCAATGGCTGGCAGTGCAGGGACAAGGA
GTGCACCGAGTGTGATCCTCTTCCAAACCCTTCGCTGACCGCTCGGTCGTCTCAGGCCCTGAGC
CCACACCCTCAGCCCACCCACTTACCTTATGTCAGTGAGATGCTGGAGGCCAGGACAGCTGGGC
ACATGCAGACTCTGGCTGACTTCAGGCAGCTGCCTGCCCGGACTCTCTCTACCCACTGGCCACC
CCAAAGATCCCTGTGCAGCTCCGATTTTATTCGCATCCTTGTGATCTTCTCTGGAATGTTCCTT
GTTTTCACCCTGGCCGGGGCCCTGTTCCTCCATCAACGAAGGAAATATAGATCAACTGGCGTGC
TCCTGACACCCCTCCCCCAAGCGCACCCGCCTCTACCCATCTCCTTCTCCCGTCTCCCCCTGCC
CCCACTGCTGGCCAAGACTCATCGGATCTCCTTCTGCAGACAAAGGAGAAAGTCCTGTGGAGCC
TGCAGAGCCTTGTCATTACAGCTGCCCCAGGGAGGAGGAGGGCAGCACCATCCCCATCCAGGAG
GATTACCGAAAACCGGAGCCTGCCTGCTCCCCCTGAGCCAGCACCTGCGGGAGCTGCACTACAG
CCCTGGCCTCCACCCCCACCCCGCCGACCATCCAAGGGAGAGTGAGACCTGGCAGCCACAACTG
CAGTCCCATCCTCTTGTCAGGGCCCTTTCCTGTGTACACGTGACAGAGTGCCTTTTCGAGACTG
GCAGGGACGAGGACAAATATGGATGAGGTGGAGAGTGGGAAGCAGGAGCCCAGCCAGCTGCGCC
TGCGCTGCAGGAGGGCGGGGGCTCTGGTTGTAAAACACACTTCCTGCTGCGAAAGACCCACATG
CTACAAGACGGGCAAAATAAAGTGACAGATGACCACCCTGCA

hide sequence

RefSeq Acc Id:

XM_047429900 ⟹ XP_047285856

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,445,584 - 6,451,713 (+)	NCBI

RefSeq Acc Id:

XM_054373867 ⟹ XP_054229842

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	6,455,340 - 6,462,105 (+)	NCBI

RefSeq Acc Id:

XM_054373868 ⟹ XP_054229843

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	6,455,969 - 6,462,105 (+)	NCBI

RefSeq Acc Id:

XM_054373869 ⟹ XP_054229844

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	6,455,978 - 6,462,100 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001233	(Get FASTA)	NCBI Sequence Viewer
	NP_001400192	(Get FASTA)	NCBI Sequence Viewer
	NP_001400193	(Get FASTA)	NCBI Sequence Viewer
	NP_001400194	(Get FASTA)	NCBI Sequence Viewer
	NP_001400195	(Get FASTA)	NCBI Sequence Viewer
	NP_001400196	(Get FASTA)	NCBI Sequence Viewer
	NP_001400197	(Get FASTA)	NCBI Sequence Viewer
	XP_011519344	(Get FASTA)	NCBI Sequence Viewer
	XP_016875723	(Get FASTA)	NCBI Sequence Viewer
	XP_047285856	(Get FASTA)	NCBI Sequence Viewer
	XP_054229842	(Get FASTA)	NCBI Sequence Viewer
	XP_054229843	(Get FASTA)	NCBI Sequence Viewer
	XP_054229844	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA58411	(Get FASTA)	NCBI Sequence Viewer
	AAH12160	(Get FASTA)	NCBI Sequence Viewer
	AAR84239	(Get FASTA)	NCBI Sequence Viewer
	BAG38087	(Get FASTA)	NCBI Sequence Viewer
	CBX47585	(Get FASTA)	NCBI Sequence Viewer
	CBX53820	(Get FASTA)	NCBI Sequence Viewer
	CCA78935	(Get FASTA)	NCBI Sequence Viewer
	CDH61611	(Get FASTA)	NCBI Sequence Viewer
	EAW88800	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000266557
	ENSP00000266557.3
GenBank Protein	P26842	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001233 ⟸ NM_001242
- Peptide Label:	isoform b precursor
- UniProtKB:	P26842 (UniProtKB/Swiss-Prot), B2RDZ0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MARPHPWWLCVLGTLVGLSATPAPKSCPERHYWAQGKLCCQMCEPGTFLVKDCDQHRKAAQCDP CIPGVSFSPDHHTRPHCESCRHCNSGLLVRNCTITANAECACRNGWQCRDKECTECDPLPNPSL TARSSQALSPHPQPTHLPYVSEMLEARTAGHMQTLADFRQLPARTLSTHWPPQRSLCSSDFIRI LVIFSGMFLVFTLAGALFLHQRRKYRSNKGESPVEPAEPCRYSCPREEEGSTIPIQEDYRKPEP ACSP hide sequence

RefSeq Acc Id:

XP_011519344 ⟸ XM_011521042

- Peptide Label:

isoform X3

- Sequence:

show sequence

MNAVIISPSSLQFQKLRPVYTRIAGFKVAPLNKCSLARHFLEPGLLVRNCTITANAECACRNGW
QCRDKECTECDPLPNPSLTARSSQALSPHPQPTHLPYVSEMLEARTAGHMQTLADFRQLPARTL
STHWPPQRSLCSSDFIRILVIFSGMFLVFTLAGALFLHQRRKYRSNKGESPVEPAEPCHYSCPR
EEEGSTIPIQEDYRKPEPACSP

hide sequence

RefSeq Acc Id:

XP_016875723 ⟸ XM_017020234

- Peptide Label:

isoform X1

- Sequence:

show sequence

MARPHPWWLCVLGTLVGLSATPAPKSCPERHYWAQGKLCCQMCEPGTFLVKDCDQHRKAAQCDP
CIPGVSFSPDHHTRPHCESCRHCNSGLLVRNCTITANAECACRNGWQCRDKECTECDPLPNPSL
TARSSQALSPHPQPTHLPYVSEMLEARTAGHMQTLADFRQLPARTLSTHWPPQRSLCSSDFIRI
LVIFSGMFLVFTLAGALFLHQRRKYRSTGVLLTPLPQAHPPLPISFSRLPLPPLLAKTHRISFC
RQRRKSCGACRALSLQLPQGGGGQHHPHPGGLPKTGACLLPLSQHLRELHYSPGLHPHPADHPR
ESETWQPQLQSHPLVRALSCVHVTECLFETGRDEDKYG

hide sequence

Ensembl Acc Id:

ENSP00000266557 ⟸ ENST00000266557

RefSeq Acc Id:	XP_047285856 ⟸ XM_047429900
- Peptide Label:	isoform X2

RefSeq Acc Id:	NP_001400196 ⟸ NM_001413267
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001400195 ⟸ NM_001413266
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001400197 ⟸ NM_001413268
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001400192 ⟸ NM_001413263
- Peptide Label:	isoform a precursor

RefSeq Acc Id:	NP_001400194 ⟸ NM_001413265
- Peptide Label:	isoform d precursor

RefSeq Acc Id:	NP_001400193 ⟸ NM_001413264
- Peptide Label:	isoform c precursor

RefSeq Acc Id:	XP_054229842 ⟸ XM_054373867
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054229843 ⟸ XM_054373868
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054229844 ⟸ XM_054373869
- Peptide Label:	isoform X3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P26842-F1-model_v2	AlphaFold	P26842	1-260	view protein structure

Promoters

RGD ID:

6789784

Promoter ID:

HG_KWN:14811

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid

Transcripts:

NM_001242, UC001QOE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	6,423,641 - 6,424,812 (+)	MPROMDB

RGD ID:

6810246

Promoter ID:

HG_ACW:15488

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

CD27ANDTAPBPL.IAPR07, CD27ANDTAPBPL.JAPR07-UNSPLICED, CD27ANDTAPBPL.LAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	6,439,896 - 6,440,396 (+)	MPROMDB

RGD ID:

7222861

Promoter ID:

EPDNEW_H17176

Type:

initiation region

Name:

CD27_1

Description:

CD27 molecule

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	6,444,987 - 6,445,047	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11922	AgrOrtholog
COSMIC	CD27	COSMIC
Ensembl Genes	ENSG00000139193	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000266557	ENTREZGENE
	ENST00000266557.4	UniProtKB/Swiss-Prot
Gene3D-CATH	Tumor Necrosis Factor Receptor, subunit A, domain 2	UniProtKB/Swiss-Prot
GTEx	ENSG00000139193	GTEx
HGNC ID	HGNC:11922	ENTREZGENE
Human Proteome Map	CD27	Human Proteome Map
InterPro	CD27_receptor	UniProtKB/Swiss-Prot
	TNFR/NGFR_Cys_rich_reg	UniProtKB/Swiss-Prot
	TNFR_7	UniProtKB/Swiss-Prot
	TNFRSF7_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:939	UniProtKB/Swiss-Prot
NCBI Gene	939	ENTREZGENE
OMIM	186711	OMIM
PANTHER	CD27	UniProtKB/Swiss-Prot
	CD27 ANTIGEN	UniProtKB/Swiss-Prot
Pfam	TNFR_c6	UniProtKB/Swiss-Prot
PharmGKB	PA162382107	PharmGKB
PRINTS	TNFACTORR7	UniProtKB/Swiss-Prot
PROSITE	TNFR_NGFR_1	UniProtKB/Swiss-Prot
	TNFR_NGFR_2	UniProtKB/Swiss-Prot
SMART	TNFR	UniProtKB/Swiss-Prot
Superfamily-SCOP	TNF receptor-like	UniProtKB/Swiss-Prot
UniProt	B2RDZ0	ENTREZGENE
	CD27_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B2RDZ0	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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