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Gene: XRCC6 (X-ray repair cross complementing 6) Homo sapiens

Analyze

Symbol:

XRCC6

Name:

X-ray repair cross complementing 6

RGD ID:

732846

HGNC Page

HGNC:4055

Description:

Enables several functions, including ATP hydrolysis activity; catalytic activity, acting on DNA; and cyclin binding activity. Contributes to DNA end binding activity and double-stranded telomeric DNA binding activity. Involved in several processes, including cellular response to gamma radiation; double-strand break repair via classical nonhomologous end joining; and regulation of DNA-templated transcription. Located in nucleolus and nucleoplasm. Part of nucleus; protein-DNA complex; and transcription regulator complex. Biomarker of basal cell carcinoma and squamous cell carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

5'-deoxyribose-5-phosphate lyase Ku70; 5'-dRP lyase Ku70; 70 kDa subunit of Ku antigen; ATP-dependent DNA helicase 2 subunit 1; ATP-dependent DNA helicase II 70 kDa subunit; ATP-dependent DNA helicase II, 70 kDa subunit; CTC box binding factor 75 kDa subunit; CTC box-binding factor 75 kDa subunit; CTC75; CTCBF; DNA repair protein XRCC6; G22P1; Ku autoantigen p70 subunit; Ku autoantigen, 70kDa; KU70; lupus Ku autoantigen protein p70; ML8; thyroid autoantigen 70kD (Ku antigen); thyroid autoantigen 70kDa (Ku antigen); thyroid-lupus autoantigen p70; TLAA; X-ray repair complementing defective repair in Chinese hamster cells 6; X-ray repair cross-complementing protein 6

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):	Xrcc6 (X-ray repair complementing defective repair in Chinese hamster cells 6)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Xrcc6 (X-ray repair cross complementing 6)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Xrcc6 (X-ray repair cross complementing 6)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	XRCC6 (X-ray repair cross complementing 6)	NCBI	Ortholog
Canis lupus familiaris (dog):	XRCC6 (X-ray repair cross complementing 6)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Xrcc6 (X-ray repair cross complementing 6)	NCBI	Ortholog
Sus scrofa (pig):	XRCC6 (X-ray repair cross complementing 6)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	XRCC6 (X-ray repair cross complementing 6)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Xrcc6 (X-ray repair cross complementing 6)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Xrcc6 (X-ray repair cross complementing 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Xrcc6 (X-ray repair cross complementing 6)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Xrcc6 (X-ray repair complementing defective repair in Chinese hamster cells 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Xrcc6 (X-ray repair complementing defective repair in Chinese hamster cells 6)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	xrcc6 (X-ray repair complementing defective repair in Chinese hamster cells 6)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	xrcc6 (X-ray repair complementing defective repair in Chinese hamster cells 6)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	cku-70	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	cku-70	Alliance	DIOPT (Hieranoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Irbp	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	Irbp	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	YKU70	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER)
Saccharomyces cerevisiae (baker's yeast):	YKU70	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	xrcc6.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	xrcc6	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	xrcc6	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Related Pseudogenes:

XRCC6P1 XRCC6P3 XRCC6P4 XRCC6P5

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	22	41,621,295 - 41,664,041 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	41,621,163 - 41,664,048 (+)	Ensembl			hg38	GRCh38
GRCh37	22	42,017,299 - 42,060,045 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	40,347,241 - 40,389,998 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	22	40,341,794 - 40,384,552	NCBI
Celera	22	25,823,724 - 25,866,486 (+)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	24,982,897 - 25,025,516 (+)	NCBI		HuRef
CHM1_1	22	41,977,343 - 42,020,083 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	42,100,225 - 42,143,017 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adenylosuccinase lyase deficiency (IAGP)

Animal Disease Models (EXP)

basal cell carcinoma (IEP)

common variable immunodeficiency 4 (IAGP)

lung adenocarcinoma (EXP)

squamous cell carcinoma (IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-dexrazoxane (ISO)

(R,R,R)-alpha-tocopherol (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

2,2'-dithiodiethanol (EXP)

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

2,6-dimethoxyphenol (EXP)

3,3'-diindolylmethane (EXP)

5-aza-2'-deoxycytidine (EXP)

5-fluorouracil (EXP)

7,12-dimethyltetraphene (ISO)

acrolein (EXP)

acrylonitrile (ISO)

aldehydo-D-glucose (EXP,ISO)

alpha-pinene (EXP)

ammonium chloride (ISO)

Aroclor 1254 (ISO)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzene (EXP,ISO)

benzo[a]pyrene (ISO)

Benzo[ghi]perylene (EXP)

biphenyl-4-amine (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

Bisphenol B (EXP)

bisphenol F (EXP)

bupivacaine (ISO)

caffeine (EXP)

calcitriol (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

cisplatin (EXP,ISO)

copper(II) sulfate (EXP)

coumarin (EXP)

coumestrol (EXP)

crocidolite asbestos (EXP)

curcumin (EXP)

cyclophosphamide (ISO)

D-glucose (EXP,ISO)

dexamethasone (ISO)

diarsenic trioxide (EXP)

dicrotophos (EXP)

diethylstilbestrol (ISO)

doxorubicin (EXP,ISO)

enzyme inhibitor (EXP)

epoxiconazole (ISO)

ethanol (EXP)

fenthion (EXP)

folic acid (ISO)

FR900359 (EXP)

furfural (EXP)

gentamycin (ISO)

glucose (EXP,ISO)

idarubicin (ISO)

ivermectin (EXP)

lead(0) (EXP)

lipopolysaccharide (ISO)

melatonin (ISO)

methyl methanesulfonate (EXP)

N-acetyl-L-cysteine (ISO)

N-nitrosodiethylamine (ISO)

ochratoxin A (ISO)

oxaliplatin (ISO)

ozone (EXP,ISO)

paracetamol (ISO)

phosphoramide mustard (ISO)

potassium bromate (ISO)

resveratrol (EXP,ISO)

rotenone (ISO)

selenocystine (EXP)

sodium arsenite (EXP,ISO)

sulindac sulfide (EXP)

tamoxifen (ISO)

terbufos (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trichostatin A (EXP)

trimellitic anhydride (ISO)

vitamin E (EXP)

vorinostat (EXP)

wortmannin (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

activation of innate immune response (IDA)

cellular hyperosmotic salinity response (IEA,ISO)

cellular response to gamma radiation (IDA)

cellular response to X-ray (IEA,ISO)

DNA damage response (IEA,ISO)

DNA recombination (IEA)

DNA repair (IEA)

double-strand break repair (ISO)

double-strand break repair via classical nonhomologous end joining (IDA)

double-strand break repair via nonhomologous end joining (IBA,IEA,IMP,ISO,NAS,TAS)

immune system process (IEA)

innate immune response (IEA)

negative regulation of DNA-templated transcription (IMP)

negative regulation of macromolecule biosynthetic process (IEA)

neurogenesis (ISO)

positive regulation of DNA-templated transcription (IDA,IMP)

positive regulation of immune system process (IEA)

positive regulation of lymphocyte differentiation (ISS)

positive regulation of neurogenesis (ISO)

positive regulation of protein kinase activity (IDA)

positive regulation of transcription by RNA polymerase II (IMP)

recombinational repair (NAS)

regulation of smooth muscle cell proliferation (IMP)

response to ionizing radiation (IEA,ISO)

telomere maintenance (IBA,IEA,TAS)

V(D)J recombination (ISO)

Cellular Component

chromosome (IEA)

chromosome, telomeric region (HDA)

cytoplasm (IEA)

cytosol (TAS)

DNA-dependent protein kinase complex (IPI)

DNA-dependent protein kinase-DNA ligase 4 complex (IDA)

extracellular region (TAS)

ficolin-1-rich granule lumen (TAS)

Ku70:Ku80 complex (IBA,IDA,IEA,IPI)

membrane (HDA,TAS)

nonhomologous end joining complex (IDA)

nuclear telomere cap complex (TAS)

nucleolus (IDA)

nucleoplasm (IDA,TAS)

nucleus (IEA,TAS)

protein-containing complex (IDA,IEA,ISO)

protein-DNA complex (IDA)

secretory granule lumen (TAS)

transcription regulator complex (IDA)

Molecular Function

5'-deoxyribose-5-phosphate lyase activity (IMP)

ATP binding (IEA)

ATP hydrolysis activity (IDA)

ATP-dependent activity, acting on DNA (IDA)

catalytic activity (IEA)

cyclin binding (IPI)

damaged DNA binding (IEA)

DNA binding (IEA,NAS)

DNA end binding (IDA)

DNA helicase activity (IDA,IEA,TAS)

double-stranded DNA binding (IBA,IEA,TAS)

double-stranded telomeric DNA binding (IDA)

helicase activity (IEA)

hydrolase activity (IEA)

lyase activity (IEA)

nucleotide binding (IEA)

protein binding (IPI,ISO)

protein-containing complex binding (IPI)

RNA binding (HDA)

scaffold protein binding (IPI)

telomeric DNA binding (IBA,IEA)

transcription cis-regulatory region binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

non-homologous end joining pathway of double-strand break repair (IEA,TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway.	Lieber MR Annu Rev Biochem. 2010;79:181-211. doi: 10.1146/annurev.biochem.052308.093131.
3.	Online Mendelian Inheritance in Man, OMIM (TM).	Online Mendelian Inheritance in Man, OMIM (TM).
4.	Expression and heterodimer-binding activity of Ku70 and Ku80 in human non-melanoma skin cancer.	Parrella P, etal., J Clin Pathol. 2006 Nov;59(11):1181-5. Epub 2006 Feb 23.
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1537839	PMID:1608402	PMID:1639139	PMID:2466842	PMID:2917966	PMID:7699019	PMID:7882982	PMID:7957065	PMID:8240370	PMID:8422676	PMID:8524317	PMID:8621488
PMID:8702520	PMID:8760815	PMID:8954777	PMID:9200330	PMID:9223317	PMID:9312071	PMID:9362500	PMID:9368068	PMID:9430697	PMID:9466316	PMID:9488450	PMID:9742108
PMID:9798959	PMID:9813006	PMID:9826654	PMID:9914162	PMID:10026262	PMID:10064605	PMID:10207052	PMID:10207111	PMID:10213687	PMID:10219089	PMID:10377944	PMID:10400681
PMID:10409678	PMID:10446239	PMID:10508516	PMID:10514012	PMID:10570175	PMID:10591208	PMID:10750018	PMID:10757784	PMID:10783163	PMID:10823961	PMID:10880505	PMID:10984620
PMID:11070027	PMID:11112778	PMID:11158303	PMID:11162511	PMID:11196700	PMID:11238996	PMID:11239001	PMID:11279128	PMID:11314007	PMID:11328876	PMID:11406603	PMID:11457852
PMID:11493912	PMID:11749722	PMID:11751391	PMID:11790298	PMID:11796732	PMID:11821378	PMID:12023295	PMID:12065431	PMID:12091904	PMID:12145306	PMID:12145307	PMID:12145308
PMID:12145309	PMID:12171929	PMID:12177300	PMID:12324457	PMID:12368356	PMID:12377759	PMID:12467650	PMID:12477932	PMID:12494870	PMID:12509254	PMID:12518983	PMID:12519782
PMID:12547193	PMID:12551933	PMID:12664628	PMID:12664629	PMID:12672812	PMID:12750264	PMID:12756247	PMID:12867423	PMID:12897160	PMID:14570916	PMID:14627815	PMID:14702039
PMID:14734561	PMID:14744259	PMID:14991539	PMID:15019772	PMID:15023334	PMID:15075319	PMID:15100233	PMID:15123719	PMID:15140983	PMID:15159402	PMID:15205477	PMID:15220460
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PMID:15640154	PMID:15668230	PMID:15723802	PMID:15782130	PMID:15824061	PMID:15827325	PMID:15905197	PMID:15910003	PMID:15941674	PMID:15958648	PMID:16009940	PMID:16051665
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PMID:16490787	PMID:16541024	PMID:16611982	PMID:16713581	PMID:16794079	PMID:16857680	PMID:16889989	PMID:17124166	PMID:17159921	PMID:17187679	PMID:17202845	PMID:17213819
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PMID:18164703	PMID:18208821	PMID:18303113	PMID:18305033	PMID:18362350	PMID:18374504	PMID:18385154	PMID:18406329	PMID:18487076	PMID:18546291	PMID:18706726	PMID:18710944
PMID:18710952	PMID:18757043	PMID:18768166	PMID:18784078	PMID:18809223	PMID:18850631	PMID:18990028	PMID:19041431	PMID:19064572	PMID:19074885	PMID:19116388	PMID:19118032
PMID:19134120	PMID:19135240	PMID:19135898	PMID:19177010	PMID:19181665	PMID:19219618	PMID:19237606	PMID:19247369	PMID:19251090	PMID:19265193	PMID:19303849	PMID:19394292
PMID:19408343	PMID:19467273	PMID:19661379	PMID:19666485	PMID:19672258	PMID:19692349	PMID:19738201	PMID:19750561	PMID:19794960	PMID:19809793	PMID:19833092	PMID:19906305
PMID:19913121	PMID:19946888	PMID:20020773	PMID:20047046	PMID:20080577	PMID:20127252	PMID:20157594	PMID:20224553	PMID:20360068	PMID:20368362	PMID:20383123	PMID:20394854
PMID:20453000	PMID:20467437	PMID:20493174	PMID:20496165	PMID:20496270	PMID:20504901	PMID:20522537	PMID:20538911	PMID:20570964	PMID:20610542	PMID:20628086	PMID:20697560
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PMID:21145461	PMID:21146485	PMID:21172662	PMID:21187428	PMID:21209461	PMID:21256093	PMID:21280222	PMID:21304054	PMID:21349273	PMID:21398614	PMID:21423092	PMID:21454661
PMID:21512205	PMID:21521024	PMID:21549307	PMID:21556760	PMID:21575261	PMID:21575865	PMID:21671178	PMID:21679440	PMID:21756904	PMID:21825151	PMID:21847364	PMID:21852011
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PMID:22322857	PMID:22399625	PMID:22412018	PMID:22442688	PMID:22446626	PMID:22451927	PMID:22455395	PMID:22504172	PMID:22504299	PMID:22524845	PMID:22535209	PMID:22544055
PMID:22586326	PMID:22593040	PMID:22617044	PMID:22623428	PMID:22658674	PMID:22681889	PMID:22745744	PMID:22751105	PMID:22863883	PMID:22939629	PMID:22990118	PMID:22993329
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PMID:23858473	PMID:23863879	PMID:23926104	PMID:23972994	PMID:24095731	PMID:24140708	PMID:24147044	PMID:24187467	PMID:24244333	PMID:24305947	PMID:24324074	PMID:24332808
PMID:24382701	PMID:24457600	PMID:24610814	PMID:24615008	PMID:24695737	PMID:24711643	PMID:24769731	PMID:24942867	PMID:24965446	PMID:24981860	PMID:25000480	PMID:25046228
PMID:25281560	PMID:25299772	PMID:25437307	PMID:25496916	PMID:25569644	PMID:25574025	PMID:25665578	PMID:25695595	PMID:25702660	PMID:25735744	PMID:25749521	PMID:25756210
PMID:25756610	PMID:25796446	PMID:25798074	PMID:25817432	PMID:25818292	PMID:25852083	PMID:25852190	PMID:25855964	PMID:25921289	PMID:25940091	PMID:25941166	PMID:25963833
PMID:26055322	PMID:26149939	PMID:26170170	PMID:26175416	PMID:26186194	PMID:26209609	PMID:26318153	PMID:26337656	PMID:26344197	PMID:26359349	PMID:26360636	PMID:26414014
PMID:26446488	PMID:26496610	PMID:26527279	PMID:26549023	PMID:26641092	PMID:26712563	PMID:26754263	PMID:26772202	PMID:26774286	PMID:26797321	PMID:26816005	PMID:26831064
PMID:26876283	PMID:26913518	PMID:26964895	PMID:26974709	PMID:26976509	PMID:26979993	PMID:27025967	PMID:27067600	PMID:27129234	PMID:27248496	PMID:27328741	PMID:27342126
PMID:27384990	PMID:27402161	PMID:27455247	PMID:27465491	PMID:27497341	PMID:27545878	PMID:27593939	PMID:27607350	PMID:27609421	PMID:27626385	PMID:27637333	PMID:27684187
PMID:27705800	PMID:27716483	PMID:27741411	PMID:27769014	PMID:27783955	PMID:27825805	PMID:27829214	PMID:27895153	PMID:27998981	PMID:28035050	PMID:28153717	PMID:28192407
PMID:28238784	PMID:28302793	PMID:28330616	PMID:28345663	PMID:28415827	PMID:28443643	PMID:28514442	PMID:28515276	PMID:28524877	PMID:28533407	PMID:28581483	PMID:28655758
PMID:28712289	PMID:28712728	PMID:28717247	PMID:28720717	PMID:28821586	PMID:28840859	PMID:28927264	PMID:28959974	PMID:28977666	PMID:28978906	PMID:29101126	PMID:29104487
PMID:29117863	PMID:29128334	PMID:29229926	PMID:29298432	PMID:29331416	PMID:29367615	PMID:29397516	PMID:29467282	PMID:29490077	PMID:29507755	PMID:29568061	PMID:29655301
PMID:29656893	PMID:29676528	PMID:29743367	PMID:29791485	PMID:29844126	PMID:29845934	PMID:29912634	PMID:29961565	PMID:29985131	PMID:30017584	PMID:30021884	PMID:30032073
PMID:30085293	PMID:30196744	PMID:30209976	PMID:30249103	PMID:30258100	PMID:30273928	PMID:30320910	PMID:30415952	PMID:30425250	PMID:30442662	PMID:30455355	PMID:30463901
PMID:30559450	PMID:30575818	PMID:30585729	PMID:30686591	PMID:30792309	PMID:30804502	PMID:30833792	PMID:30884312	PMID:30940169	PMID:30940648	PMID:30942445	PMID:30948266
PMID:31059266	PMID:31091453	PMID:31160578	PMID:31180492	PMID:31239290	PMID:31243170	PMID:31300519	PMID:31353912	PMID:31405213	PMID:31409639	PMID:31446546	PMID:31501420
PMID:31536960	PMID:31586073	PMID:31620119	PMID:31636387	PMID:31665637	PMID:31667665	PMID:31685992	PMID:31690330	PMID:31740976	PMID:31765243	PMID:31827253	PMID:31839598
PMID:31932854	PMID:31980815	PMID:32006067	PMID:32041737	PMID:32051553	PMID:32076604	PMID:32129710	PMID:32235678	PMID:32269044	PMID:32296183	PMID:32347575	PMID:32382008
PMID:32416067	PMID:32427332	PMID:32433965	PMID:32529326	PMID:32572027	PMID:32665550	PMID:32683582	PMID:32687490	PMID:32703400	PMID:32780723	PMID:32807901	PMID:32814053
PMID:32858261	PMID:32877691	PMID:32929329	PMID:32937373	PMID:32994395	PMID:33005030	PMID:33022573	PMID:33132134	PMID:33194618	PMID:33226137	PMID:33239621	PMID:33288900
PMID:33306668	PMID:33529758	PMID:33545068	PMID:33567341	PMID:33618749	PMID:33644029	PMID:33729478	PMID:33731348	PMID:33734613	PMID:33742100	PMID:33762435	PMID:33916271
PMID:33957083	PMID:33961781	PMID:34006647	PMID:34079125	PMID:34091597	PMID:34111398	PMID:34133714	PMID:34187905	PMID:34188037	PMID:34189442	PMID:34244791	PMID:34349018
PMID:34352203	PMID:34373451	PMID:34428256	PMID:34462429	PMID:34535262	PMID:34591612	PMID:34650049	PMID:34709727	PMID:34718776	PMID:34746031	PMID:34878919	PMID:34901782
PMID:34966825	PMID:35013218	PMID:35031058	PMID:35031618	PMID:35140242	PMID:35182466	PMID:35235311	PMID:35256949	PMID:35271311	PMID:35348274	PMID:35384245	PMID:35439318
PMID:35446349	PMID:35509820	PMID:35546148	PMID:35562734	PMID:35563538	PMID:35575683	PMID:35583604	PMID:35652658	PMID:35681168	PMID:35687106	PMID:35776542	PMID:35785414
PMID:35803934	PMID:35819319	PMID:35831314	PMID:35906200	PMID:35914814	PMID:35915203	PMID:35944360	PMID:35973513	PMID:36042349	PMID:36055981	PMID:36089195	PMID:36114006
PMID:36123327	PMID:36129980	PMID:36168627	PMID:36180891	PMID:36199071	PMID:36215168	PMID:36217030	PMID:36244648	PMID:36273042	PMID:36282215	PMID:36373674	PMID:36424410
PMID:36470425	PMID:36517590	PMID:36526897	PMID:36535926	PMID:36538041	PMID:36574265	PMID:36634849	PMID:36835656	PMID:36864055	PMID:36912080	PMID:36929488	PMID:36950384
PMID:37001908	PMID:37052853	PMID:37054706	PMID:37071682	PMID:37108203	PMID:37132043	PMID:37207277	PMID:37223481	PMID:37249651	PMID:37314180	PMID:37314216	PMID:37317656
PMID:37448957	PMID:37536630	PMID:37616343	PMID:37667382	PMID:37723588	PMID:37728466	PMID:37728657	PMID:37740007	PMID:37758653	PMID:37827155	PMID:38113892	PMID:38172120
PMID:38277448	PMID:38334954	PMID:38697112	PMID:38862269	PMID:39054531	PMID:39066279	PMID:39151475	PMID:39231216	PMID:39251607	PMID:39358380	PMID:39422127	PMID:39501047
PMID:39506849	PMID:40437099

Genomics

Comparative Map Data

XRCC6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	41,621,295 - 41,664,041 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	41,621,163 - 41,664,048 (+)	Ensembl			hg38	GRCh38
GRCh37	22	42,017,299 - 42,060,045 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	40,347,241 - 40,389,998 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	22	40,341,794 - 40,384,552	NCBI
Celera	22	25,823,724 - 25,866,486 (+)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	24,982,897 - 25,025,516 (+)	NCBI		HuRef
CHM1_1	22	41,977,343 - 42,020,083 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	42,100,225 - 42,143,017 (+)	NCBI		T2T-CHM13v2.0

Xrcc6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	81,868,805 - 81,924,286 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	81,872,036 - 81,924,286 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	15	81,987,833 - 82,040,085 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	81,987,835 - 82,040,085 (+)	Ensembl			mm10	GRCm38
MGSCv37	15	81,846,799 - 81,870,514 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	15	81,843,555 - 81,867,327 (+)	NCBI		MGSCv36	mm8
Celera	15	84,138,425 - 84,161,793 (+)	NCBI		Celera
Cytogenetic Map	15	E1	NCBI
cM Map	15	38.33	NCBI

Xrcc6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	115,423,026 - 115,443,884 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	7	115,422,662 - 115,443,884 (+)	Ensembl				GRCr8
mRatBN7.2	7	113,542,992 - 113,563,762 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	113,543,057 - 113,563,762 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	7	115,299,552 - 115,320,274 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	117,523,052 - 117,543,774 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	117,492,491 - 117,513,218 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	123,259,881 - 123,280,613 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	123,259,761 - 123,280,612 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	7	123,244,581 - 123,265,278 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	7	120,401,944 - 120,422,923 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	7	109,858,919 - 109,879,605 (+)	NCBI		Celera
RGSC_v3.1	7	120,436,196 - 120,457,039 (+)	NCBI
Cytogenetic Map	7	q34	NCBI

Xrcc6
(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	27,135,805 - 27,159,750 (+)	Ensembl
ChiLan1.0	NW_004955413	27,135,785 - 27,158,344 (+)	NCBI	ChiLan1.0	ChiLan1.0

XRCC6
(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	23	51,452,534 - 51,493,784 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	54,151,029 - 54,193,092 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	22,516,281 - 22,557,379 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	40,626,191 - 40,643,540 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	40,603,038 - 40,643,314 (+)	Ensembl			panPan2	panpan1.1

XRCC6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	23,637,905 - 23,661,618 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	23,638,237 - 23,661,480 (-)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	23,571,669 - 23,594,987 (-)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	24,383,246 - 24,406,874 (-)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	24,382,986 - 24,406,763 (-)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	24,100,152 - 24,123,487 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	24,421,552 - 24,445,083 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	24,595,424 - 24,619,012 (-)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Xrcc6
(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	7,293,429 - 7,315,475 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	300,057 - 325,845 (-)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	303,843 - 325,812 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

XRCC6
(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	6,903,495 - 6,929,052 (-)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	5	6,903,496 - 6,929,162 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	4,274,586 - 4,300,429 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

XRCC6
(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	19	24,160,459 - 24,204,237 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	24,160,483 - 24,206,320 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666045	101,209,345 - 101,253,933 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Xrcc6
(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_female_1.0 Ensembl	NW_004624752	6,979,271 - 7,010,787 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624752	6,987,456 - 7,010,834 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Variants

Variants in XRCC6
30 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	copy number loss	See cases [RCV000136528]	Chr22:41645339..42565798 [GRCh38] Chr22:42041343..42961804 [GRCh37] Chr22:40371289..41291748 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	copy number gain	See cases [RCV000136785]	Chr22:41277822..42414957 [GRCh38] Chr22:41673826..42810963 [GRCh37] Chr22:40003772..41140907 [NCBI36] Chr22:22q13.2	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:42033410-42101539)x3	copy number gain	See cases [RCV000448749]	Chr22:42033410..42101539 [GRCh37] Chr22:22q13.2	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	copy number gain	See cases [RCV000511241]	Chr22:41835094..42756616 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_001469.5(XRCC6):c.400A>G (p.Met134Val)	single nucleotide variant	not specified [RCV004328699]	Chr22:41636581 [GRCh38] Chr22:42032585 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del	deletion	Immunodeficiency, common variable, 4 [RCV000648330]	Chr22:41301335..42070317 [GRCh38] Chr22:41697339..42466321 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	copy number gain	not provided [RCV000684486]	Chr22:41849322..42756616 [GRCh37] Chr22:22q13.2	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
NM_001469.5(XRCC6):c.960+10G>A	single nucleotide variant	not provided [RCV000959799]	Chr22:41647092 [GRCh38] Chr22:42043096 [GRCh37] Chr22:22q13.2	benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:41871935-42026428)x1	copy number loss	not provided [RCV001007503]	Chr22:41871935..42026428 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_001469.5(XRCC6):c.-16+5G>A	single nucleotide variant	not provided [RCV001650010]	Chr22:41621350 [GRCh38] Chr22:42017354 [GRCh37] Chr22:22q13.2	benign
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1	copy number loss	not provided [RCV001258783]	Chr22:41853620..42385978 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del	deletion	Common variable immunodeficiency 4 [RCV001305750]	Chr22:41697339..42466321 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_41277754)_(43089957_?)dup	duplication	Immunodeficiency, common variable, 4 [RCV001979926]	Chr22:41277754..43089957 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup	duplication	Adenylosuccinate lyase deficiency [RCV003119093]	Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2	uncertain significance
NM_001469.5(XRCC6):c.500T>C (p.Met167Thr)	single nucleotide variant	not specified [RCV004321065]	Chr22:41636681 [GRCh38] Chr22:42032685 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1444G>A (p.Val482Met)	single nucleotide variant	not specified [RCV004107495]	Chr22:41658274 [GRCh38] Chr22:42054278 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1159A>C (p.Ile387Leu)	single nucleotide variant	not specified [RCV004217848]	Chr22:41653558 [GRCh38] Chr22:42049562 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1160T>C (p.Ile387Thr)	single nucleotide variant	not specified [RCV004150638]	Chr22:41653559 [GRCh38] Chr22:42049563 [GRCh37] Chr22:22q13.2	likely benign
NM_001469.5(XRCC6):c.1044G>A (p.Met348Ile)	single nucleotide variant	not specified [RCV004190809]	Chr22:41650806 [GRCh38] Chr22:42046810 [GRCh37] Chr22:22q13.2	likely benign
NM_001469.5(XRCC6):c.571G>A (p.Gly191Ser)	single nucleotide variant	not specified [RCV004231945]	Chr22:41636752 [GRCh38] Chr22:42032756 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.271G>A (p.Glu91Lys)	single nucleotide variant	not specified [RCV004078882]	Chr22:41636188 [GRCh38] Chr22:42032192 [GRCh37] Chr22:22q13.2	likely benign
NM_001469.5(XRCC6):c.1102G>A (p.Val368Met)	single nucleotide variant	not specified [RCV004135292]	Chr22:41650864 [GRCh38] Chr22:42046868 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.659T>C (p.Ile220Thr)	single nucleotide variant	not specified [RCV004352244]	Chr22:41637677 [GRCh38] Chr22:42033681 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.668T>C (p.Ile223Thr)	single nucleotide variant	not specified [RCV004363012]	Chr22:41637686 [GRCh38] Chr22:42033690 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	copy number gain	Syndromic craniosynostosis [RCV003481509]	Chr22:40545592..42096995 [GRCh37] Chr22:22q13.1-13.2	likely pathogenic
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	copy number gain	not specified [RCV003986179]	Chr22:39044105..45794212 [GRCh37] Chr22:22q13.1-13.31	pathogenic
NM_001469.5(XRCC6):c.1055C>A (p.Pro352Gln)	single nucleotide variant	not specified [RCV004485692]	Chr22:41650817 [GRCh38] Chr22:42046821 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.801A>G (p.Ile267Met)	single nucleotide variant	not specified [RCV004485696]	Chr22:41646923 [GRCh38] Chr22:42042927 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1211G>T (p.Arg404Met)	single nucleotide variant	not specified [RCV004485693]	Chr22:41653610 [GRCh38] Chr22:42049614 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1669G>C (p.Val557Leu)	single nucleotide variant	not specified [RCV004485694]	Chr22:41663654 [GRCh38] Chr22:42059658 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	copy number loss	not provided [RCV004442758]	Chr22:41591000..42869987 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.293A>C (p.Asn98Thr)	single nucleotide variant	not specified [RCV004485695]	Chr22:41636210 [GRCh38] Chr22:42032214 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.474A>C (p.Gln158His)	single nucleotide variant	not specified [RCV004882430]	Chr22:41636655 [GRCh38] Chr22:42032659 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1396G>A (p.Val466Ile)	single nucleotide variant	not specified [RCV004882431]	Chr22:41657007 [GRCh38] Chr22:42053011 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1537G>A (p.Ala513Thr)	single nucleotide variant	not specified [RCV004882432]	Chr22:41661345 [GRCh38] Chr22:42057349 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.930G>C (p.Leu310Phe)	single nucleotide variant	not specified [RCV004882433]	Chr22:41647052 [GRCh38] Chr22:42043056 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.259T>G (p.Phe87Val)	single nucleotide variant	not specified [RCV004882434]	Chr22:41636176 [GRCh38] Chr22:42032180 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.561G>T (p.Arg187Ser)	single nucleotide variant	not specified [RCV004882435]	Chr22:41636742 [GRCh38] Chr22:42032746 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.427C>T (p.Leu143Phe)	single nucleotide variant	not specified [RCV004882436]	Chr22:41636608 [GRCh38] Chr22:42032612 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.218G>A (p.Ser73Asn)	single nucleotide variant	not specified [RCV004882437]	Chr22:41636135 [GRCh38] Chr22:42032139 [GRCh37] Chr22:22q13.2	likely benign
NM_001469.5(XRCC6):c.911A>G (p.Asn304Ser)	single nucleotide variant	not specified [RCV004892818]	Chr22:41647033 [GRCh38] Chr22:42043037 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1685A>T (p.Glu562Val)	single nucleotide variant	not specified [RCV004892819]	Chr22:41663670 [GRCh38] Chr22:42059674 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.533A>G (p.Asn178Ser)	single nucleotide variant	not specified [RCV005313365]	Chr22:41636714 [GRCh38] Chr22:42032718 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1338G>A (p.Met446Ile)	single nucleotide variant	not specified [RCV005296982]	Chr22:41656949 [GRCh38] Chr22:42052953 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1000A>G (p.Thr334Ala)	single nucleotide variant	not specified [RCV005296980]	Chr22:41650762 [GRCh38] Chr22:42046766 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001469.5(XRCC6):c.1540A>G (p.Met514Val)	single nucleotide variant	not specified [RCV005296981]	Chr22:41661348 [GRCh38] Chr22:42057352 [GRCh37] Chr22:22q13.2	uncertain significance

miRNA Target Status (No longer updated)

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR766	hsa-miR-766-3p	Mirtarbase	external_info	CLASH	Functional MTI (Weak)	23622248

Predicted Target Of

	Summary Value
Count of predictions:	1857
Count of miRNA genes:	421
Interacting mature miRNAs:	458
Transcripts:	ENST00000359308, ENST00000360079, ENST00000402580, ENST00000405506, ENST00000405878, ENST00000428575, ENST00000464116, ENST00000478914
Prediction methods:	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
597110998	GWAS1207072_H	mathematical ability QTL GWAS1207072 (human)		7e-17	cognitive behavior trait (VT:0010450)		22	41629819	41629820	Human
406920912	GWAS569888_H	pulse pressure measurement QTL GWAS569888 (human)		3e-11	arterial blood pressure trait (VT:2000000)	pulse pressure (CMO:0000292)	22	41642782	41642783	Human
597169978	GWAS1266052_H	intelligence QTL GWAS1266052 (human)		1e-10	intelligence		22	41629819	41629820	Human
597247549	GWAS1343623_H	asthma QTL GWAS1343623 (human)		7e-09	asthma		22	41630489	41630490	Human
597023825	GWAS1119899_H	breast carcinoma QTL GWAS1119899 (human)		2e-09	mammary gland integrity trait (VT:0010552)		22	41642782	41642783	Human
597208366	GWAS1304440_H	mathematical ability QTL GWAS1304440 (human)		9e-09	cognitive behavior trait (VT:0010450)		22	41629819	41629820	Human
597217902	GWAS1313976_H	pulse pressure measurement QTL GWAS1313976 (human)		7e-14	arterial blood pressure trait (VT:2000000)	pulse pressure (CMO:0000292)	22	41642782	41642783	Human
597320593	GWAS1416667_H	attention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1416667 (human)		7e-10	behavior trait (VT:0010442)		22	41629819	41629820	Human
597117177	GWAS1213251_H	self reported educational attainment QTL GWAS1213251 (human)		8e-13	self reported educational attainment		22	41629819	41629820	Human
597056329	GWAS1152403_H	intelligence QTL GWAS1152403 (human)		4e-11	intelligence		22	41629819	41629820	Human
597320597	GWAS1416671_H	educational attainment QTL GWAS1416671 (human)		7e-14	educational attainment		22	41629819	41629820	Human

Markers in Region

SGC34657

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	94,968,887 - 94,969,269	UniSTS	GRCh37
GRCh37	X	149,400,871 - 149,401,005	UniSTS	GRCh37
Build 36	X	149,151,529 - 149,151,663	RGD	NCBI36
Celera	X	149,648,944 - 149,649,078	RGD
Celera	10	88,710,101 - 88,710,483	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	10	q23.33	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
HuRef	10	88,596,833 - 88,597,215	UniSTS
HuRef	X	138,264,246 - 138,264,380	UniSTS
GeneMap99-GB4 RH Map	X	347.01	UniSTS
Whitehead-RH Map	X	314.8	UniSTS
NCBI RH Map	X	733.4	UniSTS

RH27888

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,042,965 - 42,043,066	UniSTS	GRCh37
Build 36	22	40,372,911 - 40,373,012	RGD	NCBI36
Celera	22	25,849,402 - 25,849,503	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	25,008,034 - 25,008,135	UniSTS

RH11334

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,033,392 - 42,033,506	UniSTS	GRCh37
Build 36	22	40,363,338 - 40,363,452	RGD	NCBI36
Celera	22	25,839,824 - 25,839,938	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	24,998,862 - 24,998,976	UniSTS

G67490

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,042,820 - 42,043,186	UniSTS	GRCh37
Build 36	22	40,372,766 - 40,373,132	RGD	NCBI36
Celera	22	25,849,257 - 25,849,623	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	25,007,889 - 25,008,255	UniSTS

csnpg22p1-pcr12-2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,059,531 - 42,060,105	UniSTS	GRCh37
Build 36	22	40,389,477 - 40,390,051	RGD	NCBI36
Celera	22	25,865,965 - 25,866,539	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	25,024,995 - 25,025,569	UniSTS

D22S1267

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,053,444 - 42,053,599	UniSTS	GRCh37
Build 36	22	40,383,390 - 40,383,545	RGD	NCBI36
Celera	22	25,859,884 - 25,860,033	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	25,018,917 - 25,019,063	UniSTS

D22S1245

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,059,769 - 42,059,939	UniSTS	GRCh37
GRCh37	X	149,399,171 - 149,399,341	UniSTS	GRCh37
Build 36	X	149,149,829 - 149,149,999	RGD	NCBI36
Celera	X	149,647,244 - 149,647,414	RGD
Celera	22	25,866,203 - 25,866,373	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
HuRef	X	138,262,546 - 138,262,716	UniSTS
HuRef	22	25,025,233 - 25,025,403	UniSTS
Stanford-G3 RH Map	22	1335.0	UniSTS
NCBI RH Map	22	204.9	UniSTS
GeneMap99-G3 RH Map	22	1335.0	UniSTS

WI-18866

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,059,806 - 42,059,939	UniSTS	GRCh37
Build 36	22	40,389,752 - 40,389,885	RGD	NCBI36
Celera	22	25,866,240 - 25,866,373	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	25,025,270 - 25,025,403	UniSTS
GeneMap99-GB4 RH Map	22	126.85	UniSTS
Whitehead-RH Map	22	155.3	UniSTS

G22P1_2710

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,059,577 - 42,060,043	UniSTS	GRCh37
Build 36	22	40,389,523 - 40,389,989	RGD	NCBI36
Celera	22	25,866,011 - 25,866,477	RGD
HuRef	22	25,025,041 - 25,025,507	UniSTS

GDB:190933

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	22	q13.2	UniSTS

D22S731

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	22	q13.2	UniSTS
Whitehead-YAC Contig Map	22		UniSTS

D10S2161

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	22	q13.2	UniSTS
Stanford-G3 RH Map	22	1339.0	UniSTS
Whitehead-YAC Contig Map	10		UniSTS
NCBI RH Map	22	205.8	UniSTS
GeneMap99-G3 RH Map	22	1339.0	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	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7305	6472	53	3734	1	852	1744	1616	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001288976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288977	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK055786	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY870329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC072449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI222708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ217843	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU584415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU751953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU902323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD683757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR542219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS330042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS545602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA647513	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA718140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB057280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC383335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC386009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HH794620	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	J04607	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	J04611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M32865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S38729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z83840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000359308 ⟹ ENSP00000352257

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,621,350 - 41,664,039 (+)	Ensembl

Ensembl Acc Id:

ENST00000360079 ⟹ ENSP00000353192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,621,295 - 41,664,041 (+)	Ensembl

Ensembl Acc Id:

ENST00000402580 ⟹ ENSP00000384941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,621,295 - 41,664,048 (+)	Ensembl

Ensembl Acc Id:

ENST00000405506 ⟹ ENSP00000384082

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,621,983 - 41,664,034 (+)	Ensembl

Ensembl Acc Id:

ENST00000405878 ⟹ ENSP00000384257

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,621,461 - 41,664,039 (+)	Ensembl

Ensembl Acc Id:

ENST00000428575 ⟹ ENSP00000403679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,621,163 - 41,664,048 (+)	Ensembl

Ensembl Acc Id:

ENST00000464116

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,621,285 - 41,628,318 (+)	Ensembl

Ensembl Acc Id:

ENST00000478914

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,656,953 - 41,661,699 (+)	Ensembl

RefSeq Acc Id:

NM_001288976 ⟹ NP_001275905

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,621,295 - 41,664,041 (+)	NCBI
HuRef	22	24,982,769 - 25,025,516 (+)	NCBI
CHM1_1	22	41,977,394 - 42,020,083 (+)	NCBI
T2T-CHM13v2.0	22	42,100,225 - 42,143,017 (+)	NCBI

Sequence:

show sequence

ATGCGTGGATTGTCGTCTTCTGTCCAAGTTGGTCGCTTCCCTGCGCCAAAGGTAAGCGGGCCGT
TATCCATTTGTGTTGTTCGCCAGCTAGGCCTGGCCTCGTCCCGCTTCGCTCGTGAGCAGTAGCC
AACATGTCAGGGTGGGAGTCATATTACAAAACCGAGGGCGATGAAGAAGCAGAGGAAGAACAAG
AAGAGAACCTTGAAGCAAGTGGAGACTATAAATATTCAGGAAGAGATAGTTTGATTTTTTTGGT
TGATGCCTCCAAGGCTATGTTTGAATCTCAGAGTGAAGATGAGTTGACACCTTTTGACATGAGC
ATCCAGTGTATCCAAAGTGTGTACATCAGTAAGATCATAAGCAGTGATCGAGATCTCTTGGCTG
TGGTGTTCTATGGTACCGAGAAAGACAAAAATTCAGTGAATTTTAAAAATATTTACGTCTTACA
GGAGCTGGATAATCCAGGTGCAAAACGAATTCTAGAGCTTGACCAGTTTAAGGGGCAGCAGGGA
CAAAAACGTTTCCAAGACATGATGGGCCACGGATCTGACTACTCACTCAGTGAAGTGCTGTGGG
TCTGTGCCAACCTCTTTAGTGATGTCCAATTCAAGATGAGTCATAAGAGGATCATGCTGTTCAC
CAATGAAGACAACCCCCATGGCAATGACAGTGCCAAAGCCAGCCGGGCCAGGACCAAAGCCGGT
GATCTCCGAGATACAGGCATCTTCCTTGACTTGATGCACCTGAAGAAACCTGGGGGCTTTGACA
TATCCTTGTTCTACAGAGATATCATCAGCATAGCAGAGGATGAGGACCTCAGGGTTCACTTTGA
GGAATCCAGCAAGCTAGAAGACCTGTTGCGGAAGGTTCGCGCCAAGGAGACCAGGAAGCGAGCA
CTCAGCAGGTTAAAGCTGAAGCTCAACAAAGATATAGTGATCTCTGTGGGCATTTATAATCTGG
TCCAGAAGGCTCTCAAGCCTCCTCCAATAAAGCTCTATCGGGAAACAAATGAACCAGTGAAAAC
CAAGACCCGGACCTTTAATACAAGTACAGGCGGTTTGCTTCTGCCTAGCGATACCAAGAGGTCT
CAGATCTATGGGAGTCGTCAGATTATACTGGAGAAAGAGGAAACAGAAGAGCTAAAACGGTTTG
ATGATCCAGGTTTGATGCTCATGGGTTTCAAGCCGTTGGTACTGCTGAAGAAACACCATTACCT
GAGGCCCTCCCTGTTCGTGTACCCAGAGGAGTCGCTGGTGATTGGGAGCTCAACCCTGTTCAGT
GCTCTGCTCATCAAGTGTCTGGAGAAGGAGGTTGCAGCATTGTGCAGATACACACCCCGCAGGA
ACATCCCTCCTTATTTTGTGGCTTTGGTGCCACAGGAAGAAGAGTTGGATGACCAGAAAATTCA
GGTGACTCCTCCAGGCTTCCAGCTGGTCTTTTTACCCTTTGCTGATGATAAAAGGAAGATGCCC
TTTACTGAAAAAATCATGGCAACTCCAGAGCAGGTGGGCAAGATGAAGGCTATCGTTGAGAAGC
TTCGCTTCACATACAGAAGTGACAGCTTTGAGAACCCCGTGCTGCAGCAGCACTTCAGGAACCT
GGAGGCCTTGGCCTTGGATTTGATGGAGCCGGAACAAGCAGTGGACCTGACATTGCCCAAGGTT
GAAGCAATGAATAAAAGACTGGGCTCCTTGGTGGATGAGTTTAAGGAGCTTGTTTACCCACCAG
ATTACAATCCTGAAGGGAAAGTTACCAAGAGAAAACACGATAATGAAGGTTCTGGAAGCAAAAG
GCCCAAGGTGGAGTATTCAGAAGAGGAGCTGAAGACCCACATCAGCAAGGGTACGCTGGGCAAG
TTCACTGTGCCCATGCTGAAAGAGGCCTGCCGGGCTTACGGGCTGAAGAGTGGGCTGAAGAAGC
AGGAGCTGCTGGAAGCCCTCACCAAGCACTTCCAGGACTGACCAGAGGCCGCGCGTCCAGCTGC
CCTTCCGCAGTGTGGCCAGGCTGCCTGGCCTTGTCCTCAGCCAGTTAAAATGTGTTTCTCCTGA
GCTAGGAAGAGTCTACCCGACATAAGTCGAGGGACTTTATGTTTTTGAGGCTTTCTGTTGCCAT
GGTGATGGTGTAGCCCTCCCACTTTGCTGTTCCTTACTTTACTGCCTGAATAAAGAGCCCTAAG
TTTGTACTATA

hide sequence

RefSeq Acc Id:

NM_001288977 ⟹ NP_001275906

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,621,295 - 41,664,041 (+)	NCBI
HuRef	22	24,982,769 - 25,025,516 (+)	NCBI
CHM1_1	22	41,977,215 - 42,020,083 (+)	NCBI
T2T-CHM13v2.0	22	42,100,225 - 42,143,017 (+)	NCBI

Sequence:

show sequence

ATGCGTGGATTGTCGTCTTCTGTCCAAGTTGGTCGCTTCCCTGCGCCAAAGTGAGCAGTAGCCA
ACATGTCAGGGTGGGAGTCATATTACAAAACCGAGGGCGATGAAGAAGCAGAGGAAGAACAAGA
AGAGAACCTTGAAGCAAGTGGAGACTATAAATATTCAGGAAGAGATAGTTTGATTTTTTTGGTT
GATGCCTCCAAGGCTATGTTTGAATCTCAGAGTGAAGATGAGTTGACACCTTTTGACATGAGCA
TCCAGGAGCTGGATAATCCAGGTGCAAAACGAATTCTAGAGCTTGACCAGTTTAAGGGGCAGCA
GGGACAAAAACGTTTCCAAGACATGATGGGCCACGGATCTGACTACTCACTCAGTGAAGTGCTG
TGGGTCTGTGCCAACCTCTTTAGTGATGTCCAATTCAAGATGAGTCATAAGAGGATCATGCTGT
TCACCAATGAAGACAACCCCCATGGCAATGACAGTGCCAAAGCCAGCCGGGCCAGGACCAAAGC
CGGTGATCTCCGAGATACAGGCATCTTCCTTGACTTGATGCACCTGAAGAAACCTGGGGGCTTT
GACATATCCTTGTTCTACAGAGATATCATCAGCATAGCAGAGGATGAGGACCTCAGGGTTCACT
TTGAGGAATCCAGCAAGCTAGAAGACCTGTTGCGGAAGGTTCGCGCCAAGGAGACCAGGAAGCG
AGCACTCAGCAGGTTAAAGCTGAAGCTCAACAAAGATATAGTGATCTCTGTGGGCATTTATAAT
CTGGTCCAGAAGGCTCTCAAGCCTCCTCCAATAAAGCTCTATCGGGAAACAAATGAACCAGTGA
AAACCAAGACCCGGACCTTTAATACAAGTACAGGCGGTTTGCTTCTGCCTAGCGATACCAAGAG
GTCTCAGATCTATGGGAGTCGTCAGATTATACTGGAGAAAGAGGAAACAGAAGAGCTAAAACGG
TTTGATGATCCAGGTTTGATGCTCATGGGTTTCAAGCCGTTGGTACTGCTGAAGAAACACCATT
ACCTGAGGCCCTCCCTGTTCGTGTACCCAGAGGAGTCGCTGGTGATTGGGAGCTCAACCCTGTT
CAGTGCTCTGCTCATCAAGTGTCTGGAGAAGGAGGTTGCAGCATTGTGCAGATACACACCCCGC
AGGAACATCCCTCCTTATTTTGTGGCTTTGGTGCCACAGGAAGAAGAGTTGGATGACCAGAAAA
TTCAGGTGACTCCTCCAGGCTTCCAGCTGGTCTTTTTACCCTTTGCTGATGATAAAAGGAAGAT
GCCCTTTACTGAAAAAATCATGGCAACTCCAGAGCAGGTGGGCAAGATGAAGGCTATCGTTGAG
AAGCTTCGCTTCACATACAGAAGTGACAGCTTTGAGAACCCCGTGCTGCAGCAGCACTTCAGGA
ACCTGGAGGCCTTGGCCTTGGATTTGATGGAGCCGGAACAAGCAGTGGACCTGACATTGCCCAA
GGTTGAAGCAATGAATAAAAGACTGGGCTCCTTGGTGGATGAGTTTAAGGAGCTTGTTTACCCA
CCAGATTACAATCCTGAAGGGAAAGTTACCAAGAGAAAACACGATAATGAAGGTTCTGGAAGCA
AAAGGCCCAAGGTGGAGTATTCAGAAGAGGAGCTGAAGACCCACATCAGCAAGGGTACGCTGGG
CAAGTTCACTGTGCCCATGCTGAAAGAGGCCTGCCGGGCTTACGGGCTGAAGAGTGGGCTGAAG
AAGCAGGAGCTGCTGGAAGCCCTCACCAAGCACTTCCAGGACTGACCAGAGGCCGCGCGTCCAG
CTGCCCTTCCGCAGTGTGGCCAGGCTGCCTGGCCTTGTCCTCAGCCAGTTAAAATGTGTTTCTC
CTGAGCTAGGAAGAGTCTACCCGACATAAGTCGAGGGACTTTATGTTTTTGAGGCTTTCTGTTG
CCATGGTGATGGTGTAGCCCTCCCACTTTGCTGTTCCTTACTTTACTGCCTGAATAAAGAGCCC
TAAGTTTGTACTATA

hide sequence

RefSeq Acc Id:

NM_001288978 ⟹ NP_001275907

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,621,295 - 41,664,041 (+)	NCBI
HuRef	22	24,982,769 - 25,025,516 (+)	NCBI
CHM1_1	22	41,977,215 - 42,020,083 (+)	NCBI
T2T-CHM13v2.0	22	42,100,225 - 42,143,017 (+)	NCBI

Sequence:

show sequence

ATGCGTGGATTGTCGTCTTCTGTCCAAGTTGGTCGCTTCCCTGCGCCAAAGTGAGCAGTAGCCA
ACATGTCAGGGTGGGAGTCATATTACAAAACCGAGGGCGATGAAGAAGCAGAGGAAGAACAAGA
AGAGAACCTTGAAGCAAGTGTGTATCCAAAGTGTGTACATCAGTAAGATCATAAGCAGTGATCG
AGATCTCTTGGCTGTGGTGTTCTATGGTACCGAGAAAGACAAAAATTCAGTGAATTTTAAAAAT
ATTTACGTCTTACAGGAGCTGGATAATCCAGGTGCAAAACGAATTCTAGAGCTTGACCAGTTTA
AGGGGCAGCAGGGACAAAAACGTTTCCAAGACATGATGGGCCACGGATCTGACTACTCACTCAG
TGAAGTGCTGTGGGTCTGTGCCAACCTCTTTAGTGATGTCCAATTCAAGATGAGTCATAAGAGG
ATCATGCTGTTCACCAATGAAGACAACCCCCATGGCAATGACAGTGCCAAAGCCAGCCGGGCCA
GGACCAAAGCCGGTGATCTCCGAGATACAGGCATCTTCCTTGACTTGATGCACCTGAAGAAACC
TGGGGGCTTTGACATATCCTTGTTCTACAGAGATATCATCAGCATAGCAGAGGATGAGGACCTC
AGGGTTCACTTTGAGGAATCCAGCAAGCTAGAAGACCTGTTGCGGAAGGTTCGCGCCAAGGAGA
CCAGGAAGCGAGCACTCAGCAGGTTAAAGCTGAAGCTCAACAAAGATATAGTGATCTCTGTGGG
CATTTATAATCTGGTCCAGAAGGCTCTCAAGCCTCCTCCAATAAAGCTCTATCGGGAAACAAAT
GAACCAGTGAAAACCAAGACCCGGACCTTTAATACAAGTACAGGCGGTTTGCTTCTGCCTAGCG
ATACCAAGAGGTCTCAGATCTATGGGAGTCGTCAGATTATACTGGAGAAAGAGGAAACAGAAGA
GCTAAAACGGTTTGATGATCCAGGTTTGATGCTCATGGGTTTCAAGCCGTTGGTACTGCTGAAG
AAACACCATTACCTGAGGCCCTCCCTGTTCGTGTACCCAGAGGAGTCGCTGGTGATTGGGAGCT
CAACCCTGTTCAGTGCTCTGCTCATCAAGTGTCTGGAGAAGGAGGTTGCAGCATTGTGCAGATA
CACACCCCGCAGGAACATCCCTCCTTATTTTGTGGCTTTGGTGCCACAGGAAGAAGAGTTGGAT
GACCAGAAAATTCAGGTGACTCCTCCAGGCTTCCAGCTGGTCTTTTTACCCTTTGCTGATGATA
AAAGGAAGATGCCCTTTACTGAAAAAATCATGGCAACTCCAGAGCAGGTGGGCAAGATGAAGGC
TATCGTTGAGAAGCTTCGCTTCACATACAGAAGTGACAGCTTTGAGAACCCCGTGCTGCAGCAG
CACTTCAGGAACCTGGAGGCCTTGGCCTTGGATTTGATGGAGCCGGAACAAGCAGTGGACCTGA
CATTGCCCAAGGTTGAAGCAATGAATAAAAGACTGGGCTCCTTGGTGGATGAGTTTAAGGAGCT
TGTTTACCCACCAGATTACAATCCTGAAGGGAAAGTTACCAAGAGAAAACACGATAATGAAGGT
TCTGGAAGCAAAAGGCCCAAGGTGGAGTATTCAGAAGAGGAGCTGAAGACCCACATCAGCAAGG
GTACGCTGGGCAAGTTCACTGTGCCCATGCTGAAAGAGGCCTGCCGGGCTTACGGGCTGAAGAG
TGGGCTGAAGAAGCAGGAGCTGCTGGAAGCCCTCACCAAGCACTTCCAGGACTGACCAGAGGCC
GCGCGTCCAGCTGCCCTTCCGCAGTGTGGCCAGGCTGCCTGGCCTTGTCCTCAGCCAGTTAAAA
TGTGTTTCTCCTGAGCTAGGAAGAGTCTACCCGACATAAGTCGAGGGACTTTATGTTTTTGAGG
CTTTCTGTTGCCATGGTGATGGTGTAGCCCTCCCACTTTGCTGTTCCTTACTTTACTGCCTGAA
TAAAGAGCCCTAAGTTTGTACTATA

hide sequence

RefSeq Acc Id:

NM_001469 ⟹ NP_001460

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,621,295 - 41,664,041 (+)	NCBI
GRCh37	22	42,017,250 - 42,060,052 (+)	NCBI
Build 36	22	40,347,241 - 40,389,998 (+)	NCBI Archive
HuRef	22	24,982,769 - 25,025,516 (+)	NCBI
CHM1_1	22	41,977,215 - 42,020,083 (+)	NCBI
T2T-CHM13v2.0	22	42,100,225 - 42,143,017 (+)	NCBI

Sequence:

show sequence

ATGCGTGGATTGTCGTCTTCTGTCCAAGTTGGTCGCTTCCCTGCGCCAAAGTGAGCAGTAGCCA
ACATGTCAGGGTGGGAGTCATATTACAAAACCGAGGGCGATGAAGAAGCAGAGGAAGAACAAGA
AGAGAACCTTGAAGCAAGTGGAGACTATAAATATTCAGGAAGAGATAGTTTGATTTTTTTGGTT
GATGCCTCCAAGGCTATGTTTGAATCTCAGAGTGAAGATGAGTTGACACCTTTTGACATGAGCA
TCCAGTGTATCCAAAGTGTGTACATCAGTAAGATCATAAGCAGTGATCGAGATCTCTTGGCTGT
GGTGTTCTATGGTACCGAGAAAGACAAAAATTCAGTGAATTTTAAAAATATTTACGTCTTACAG
GAGCTGGATAATCCAGGTGCAAAACGAATTCTAGAGCTTGACCAGTTTAAGGGGCAGCAGGGAC
AAAAACGTTTCCAAGACATGATGGGCCACGGATCTGACTACTCACTCAGTGAAGTGCTGTGGGT
CTGTGCCAACCTCTTTAGTGATGTCCAATTCAAGATGAGTCATAAGAGGATCATGCTGTTCACC
AATGAAGACAACCCCCATGGCAATGACAGTGCCAAAGCCAGCCGGGCCAGGACCAAAGCCGGTG
ATCTCCGAGATACAGGCATCTTCCTTGACTTGATGCACCTGAAGAAACCTGGGGGCTTTGACAT
ATCCTTGTTCTACAGAGATATCATCAGCATAGCAGAGGATGAGGACCTCAGGGTTCACTTTGAG
GAATCCAGCAAGCTAGAAGACCTGTTGCGGAAGGTTCGCGCCAAGGAGACCAGGAAGCGAGCAC
TCAGCAGGTTAAAGCTGAAGCTCAACAAAGATATAGTGATCTCTGTGGGCATTTATAATCTGGT
CCAGAAGGCTCTCAAGCCTCCTCCAATAAAGCTCTATCGGGAAACAAATGAACCAGTGAAAACC
AAGACCCGGACCTTTAATACAAGTACAGGCGGTTTGCTTCTGCCTAGCGATACCAAGAGGTCTC
AGATCTATGGGAGTCGTCAGATTATACTGGAGAAAGAGGAAACAGAAGAGCTAAAACGGTTTGA
TGATCCAGGTTTGATGCTCATGGGTTTCAAGCCGTTGGTACTGCTGAAGAAACACCATTACCTG
AGGCCCTCCCTGTTCGTGTACCCAGAGGAGTCGCTGGTGATTGGGAGCTCAACCCTGTTCAGTG
CTCTGCTCATCAAGTGTCTGGAGAAGGAGGTTGCAGCATTGTGCAGATACACACCCCGCAGGAA
CATCCCTCCTTATTTTGTGGCTTTGGTGCCACAGGAAGAAGAGTTGGATGACCAGAAAATTCAG
GTGACTCCTCCAGGCTTCCAGCTGGTCTTTTTACCCTTTGCTGATGATAAAAGGAAGATGCCCT
TTACTGAAAAAATCATGGCAACTCCAGAGCAGGTGGGCAAGATGAAGGCTATCGTTGAGAAGCT
TCGCTTCACATACAGAAGTGACAGCTTTGAGAACCCCGTGCTGCAGCAGCACTTCAGGAACCTG
GAGGCCTTGGCCTTGGATTTGATGGAGCCGGAACAAGCAGTGGACCTGACATTGCCCAAGGTTG
AAGCAATGAATAAAAGACTGGGCTCCTTGGTGGATGAGTTTAAGGAGCTTGTTTACCCACCAGA
TTACAATCCTGAAGGGAAAGTTACCAAGAGAAAACACGATAATGAAGGTTCTGGAAGCAAAAGG
CCCAAGGTGGAGTATTCAGAAGAGGAGCTGAAGACCCACATCAGCAAGGGTACGCTGGGCAAGT
TCACTGTGCCCATGCTGAAAGAGGCCTGCCGGGCTTACGGGCTGAAGAGTGGGCTGAAGAAGCA
GGAGCTGCTGGAAGCCCTCACCAAGCACTTCCAGGACTGACCAGAGGCCGCGCGTCCAGCTGCC
CTTCCGCAGTGTGGCCAGGCTGCCTGGCCTTGTCCTCAGCCAGTTAAAATGTGTTTCTCCTGAG
CTAGGAAGAGTCTACCCGACATAAGTCGAGGGACTTTATGTTTTTGAGGCTTTCTGTTGCCATG
GTGATGGTGTAGCCCTCCCACTTTGCTGTTCCTTACTTTACTGCCTGAATAAAGAGCCCTAAGT
TTGTACTATA

hide sequence

RefSeq Acc Id:

XM_047441304 ⟹ XP_047297260

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,621,295 - 41,664,041 (+)	NCBI

RefSeq Acc Id:

XM_054325461 ⟹ XP_054181436

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	42,100,225 - 42,143,017 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001275905	(Get FASTA)	NCBI Sequence Viewer
	NP_001275906	(Get FASTA)	NCBI Sequence Viewer
	NP_001275907	(Get FASTA)	NCBI Sequence Viewer
	NP_001460	(Get FASTA)	NCBI Sequence Viewer
	XP_047297260	(Get FASTA)	NCBI Sequence Viewer
	XP_054181436	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36155	(Get FASTA)	NCBI Sequence Viewer
	AAA51733	(Get FASTA)	NCBI Sequence Viewer
	AAA61177	(Get FASTA)	NCBI Sequence Viewer
	AAB22381	(Get FASTA)	NCBI Sequence Viewer
	AAH08343	(Get FASTA)	NCBI Sequence Viewer
	AAH10034	(Get FASTA)	NCBI Sequence Viewer
	AAH12154	(Get FASTA)	NCBI Sequence Viewer
	AAH18259	(Get FASTA)	NCBI Sequence Viewer
	AAH72449	(Get FASTA)	NCBI Sequence Viewer
	AAW34364	(Get FASTA)	NCBI Sequence Viewer
	BAG37986	(Get FASTA)	NCBI Sequence Viewer
	BAG51575	(Get FASTA)	NCBI Sequence Viewer
	BAG56943	(Get FASTA)	NCBI Sequence Viewer
	BAG65368	(Get FASTA)	NCBI Sequence Viewer
	CAG30378	(Get FASTA)	NCBI Sequence Viewer
	CAG47015	(Get FASTA)	NCBI Sequence Viewer
	CAL00149	(Get FASTA)	NCBI Sequence Viewer
	CAN36299	(Get FASTA)	NCBI Sequence Viewer
	CBX87167	(Get FASTA)	NCBI Sequence Viewer
	EAW60446	(Get FASTA)	NCBI Sequence Viewer
	EAW60447	(Get FASTA)	NCBI Sequence Viewer
	EAW60448	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000352257
	ENSP00000352257.4
	ENSP00000353192
	ENSP00000353192.3
	ENSP00000384257.1
	ENSP00000384941
	ENSP00000384941.3
	ENSP00000403679
GenBank Protein	P12956	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001460 ⟸ NM_001469
- Peptide Label:	isoform 1
- UniProtKB:	Q9UCQ2 (UniProtKB/Swiss-Prot), Q6FG89 (UniProtKB/Swiss-Prot), B1AHC8 (UniProtKB/Swiss-Prot), Q9UCQ3 (UniProtKB/Swiss-Prot), P12956 (UniProtKB/Swiss-Prot), B2RDN9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSGWESYYKTEGDEEAEEEQEENLEASGDYKYSGRDSLIFLVDASKAMFESQSEDELTPFDMSI QCIQSVYISKIISSDRDLLAVVFYGTEKDKNSVNFKNIYVLQELDNPGAKRILELDQFKGQQGQ KRFQDMMGHGSDYSLSEVLWVCANLFSDVQFKMSHKRIMLFTNEDNPHGNDSAKASRARTKAGD LRDTGIFLDLMHLKKPGGFDISLFYRDIISIAEDEDLRVHFEESSKLEDLLRKVRAKETRKRAL SRLKLKLNKDIVISVGIYNLVQKALKPPPIKLYRETNEPVKTKTRTFNTSTGGLLLPSDTKRSQ IYGSRQIILEKEETEELKRFDDPGLMLMGFKPLVLLKKHHYLRPSLFVYPEESLVIGSSTLFSA LLIKCLEKEVAALCRYTPRRNIPPYFVALVPQEEELDDQKIQVTPPGFQLVFLPFADDKRKMPF TEKIMATPEQVGKMKAIVEKLRFTYRSDSFENPVLQQHFRNLEALALDLMEPEQAVDLTLPKVE AMNKRLGSLVDEFKELVYPPDYNPEGKVTKRKHDNEGSGSKRPKVEYSEEELKTHISKGTLGKF TVPMLKEACRAYGLKSGLKKQELLEALTKHFQD hide sequence

RefSeq Acc Id:	NP_001275906 ⟸ NM_001288977
- Peptide Label:	isoform 2
- UniProtKB:	B2RDN9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSGWESYYKTEGDEEAEEEQEENLEASGDYKYSGRDSLIFLVDASKAMFESQSEDELTPFDMSI QELDNPGAKRILELDQFKGQQGQKRFQDMMGHGSDYSLSEVLWVCANLFSDVQFKMSHKRIMLF TNEDNPHGNDSAKASRARTKAGDLRDTGIFLDLMHLKKPGGFDISLFYRDIISIAEDEDLRVHF EESSKLEDLLRKVRAKETRKRALSRLKLKLNKDIVISVGIYNLVQKALKPPPIKLYRETNEPVK TKTRTFNTSTGGLLLPSDTKRSQIYGSRQIILEKEETEELKRFDDPGLMLMGFKPLVLLKKHHY LRPSLFVYPEESLVIGSSTLFSALLIKCLEKEVAALCRYTPRRNIPPYFVALVPQEEELDDQKI QVTPPGFQLVFLPFADDKRKMPFTEKIMATPEQVGKMKAIVEKLRFTYRSDSFENPVLQQHFRN LEALALDLMEPEQAVDLTLPKVEAMNKRLGSLVDEFKELVYPPDYNPEGKVTKRKHDNEGSGSK RPKVEYSEEELKTHISKGTLGKFTVPMLKEACRAYGLKSGLKKQELLEALTKHFQD hide sequence

RefSeq Acc Id:	NP_001275907 ⟸ NM_001288978
- Peptide Label:	isoform 3
- UniProtKB:	B1AHC9 (UniProtKB/TrEMBL), B4DE32 (UniProtKB/TrEMBL), F5H1I8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKKQRKNKKRTLKQVCIQSVYISKIISSDRDLLAVVFYGTEKDKNSVNFKNIYVLQELDNPGAK RILELDQFKGQQGQKRFQDMMGHGSDYSLSEVLWVCANLFSDVQFKMSHKRIMLFTNEDNPHGN DSAKASRARTKAGDLRDTGIFLDLMHLKKPGGFDISLFYRDIISIAEDEDLRVHFEESSKLEDL LRKVRAKETRKRALSRLKLKLNKDIVISVGIYNLVQKALKPPPIKLYRETNEPVKTKTRTFNTS TGGLLLPSDTKRSQIYGSRQIILEKEETEELKRFDDPGLMLMGFKPLVLLKKHHYLRPSLFVYP EESLVIGSSTLFSALLIKCLEKEVAALCRYTPRRNIPPYFVALVPQEEELDDQKIQVTPPGFQL VFLPFADDKRKMPFTEKIMATPEQVGKMKAIVEKLRFTYRSDSFENPVLQQHFRNLEALALDLM EPEQAVDLTLPKVEAMNKRLGSLVDEFKELVYPPDYNPEGKVTKRKHDNEGSGSKRPKVEYSEE ELKTHISKGTLGKFTVPMLKEACRAYGLKSGLKKQELLEALTKHFQD hide sequence

RefSeq Acc Id:	NP_001275905 ⟸ NM_001288976
- Peptide Label:	isoform 1
- UniProtKB:	Q9UCQ2 (UniProtKB/Swiss-Prot), Q6FG89 (UniProtKB/Swiss-Prot), B1AHC8 (UniProtKB/Swiss-Prot), Q9UCQ3 (UniProtKB/Swiss-Prot), P12956 (UniProtKB/Swiss-Prot), B2RDN9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSGWESYYKTEGDEEAEEEQEENLEASGDYKYSGRDSLIFLVDASKAMFESQSEDELTPFDMSI QCIQSVYISKIISSDRDLLAVVFYGTEKDKNSVNFKNIYVLQELDNPGAKRILELDQFKGQQGQ KRFQDMMGHGSDYSLSEVLWVCANLFSDVQFKMSHKRIMLFTNEDNPHGNDSAKASRARTKAGD LRDTGIFLDLMHLKKPGGFDISLFYRDIISIAEDEDLRVHFEESSKLEDLLRKVRAKETRKRAL SRLKLKLNKDIVISVGIYNLVQKALKPPPIKLYRETNEPVKTKTRTFNTSTGGLLLPSDTKRSQ IYGSRQIILEKEETEELKRFDDPGLMLMGFKPLVLLKKHHYLRPSLFVYPEESLVIGSSTLFSA LLIKCLEKEVAALCRYTPRRNIPPYFVALVPQEEELDDQKIQVTPPGFQLVFLPFADDKRKMPF TEKIMATPEQVGKMKAIVEKLRFTYRSDSFENPVLQQHFRNLEALALDLMEPEQAVDLTLPKVE AMNKRLGSLVDEFKELVYPPDYNPEGKVTKRKHDNEGSGSKRPKVEYSEEELKTHISKGTLGKF TVPMLKEACRAYGLKSGLKKQELLEALTKHFQD hide sequence

Ensembl Acc Id:

ENSP00000352257 ⟸ ENST00000359308

Ensembl Acc Id:

ENSP00000353192 ⟸ ENST00000360079

Ensembl Acc Id:

ENSP00000403679 ⟸ ENST00000428575

Ensembl Acc Id:

ENSP00000384941 ⟸ ENST00000402580

Ensembl Acc Id:

ENSP00000384082 ⟸ ENST00000405506

Ensembl Acc Id:

ENSP00000384257 ⟸ ENST00000405878

RefSeq Acc Id:	XP_047297260 ⟸ XM_047441304
- Peptide Label:	isoform X1
- UniProtKB:	F5H1I8 (UniProtKB/TrEMBL), B1AHC9 (UniProtKB/TrEMBL), B4DE32 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054181436 ⟸ XM_054325461
- Peptide Label:	isoform X1
- UniProtKB:	F5H1I8 (UniProtKB/TrEMBL), B1AHC9 (UniProtKB/TrEMBL), B4DE32 (UniProtKB/TrEMBL)

Protein Domains

Ku SAP

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P12956-F1-model_v2	AlphaFold	P12956	1-609	view protein structure

Promoters

RGD ID:

6800306

Promoter ID:

HG_KWN:42999

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000402409, ENST00000405878, OTTHUMT00000104124, OTTHUMT00000321686, OTTHUMT00000321718, UC003BAP.1, UC003BAR.1, UC003BAS.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	40,345,716 - 40,347,807 (-)	MPROMDB

RGD ID:

6851460

Promoter ID:

EP73531

Type:

initiation region

Name:

HS_G22P1

Description:

Thyroid autoantigen 70kDa (Ku antigen).

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	40,347,245 - 40,347,305	EPD

RGD ID:

13604272

Promoter ID:

EPDNEW_H28320

Type:

initiation region

Name:

XRCC6_1

Description:

X-ray repair cross complementing 6

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	22	41,621,306 - 41,621,366	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4055	AgrOrtholog
COSMIC	XRCC6	COSMIC
Ensembl Genes	ENSG00000196419	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000359308	ENTREZGENE
	ENST00000359308.8	UniProtKB/Swiss-Prot
	ENST00000360079	ENTREZGENE
	ENST00000360079.8	UniProtKB/Swiss-Prot
	ENST00000402580	ENTREZGENE
	ENST00000402580.7	UniProtKB/Swiss-Prot
	ENST00000405878.5	UniProtKB/Swiss-Prot
	ENST00000428575	ENTREZGENE
Gene3D-CATH	1.10.1600.10	UniProtKB/Swiss-Prot
	1.10.720.30	UniProtKB/Swiss-Prot
	2.40.290.10	UniProtKB/Swiss-Prot
	3.40.50.410	UniProtKB/Swiss-Prot
	4.10.970.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000196419	GTEx
HGNC ID	HGNC:4055	ENTREZGENE
Human Proteome Map	XRCC6	Human Proteome Map
InterPro	Ku70	UniProtKB/Swiss-Prot
	Ku70/Ku80_beta-barrel_dom	UniProtKB/Swiss-Prot
	Ku70_bridge/pillars_dom_sf	UniProtKB/Swiss-Prot
	KU70_core_dom	UniProtKB/Swiss-Prot
	Ku_C	UniProtKB/Swiss-Prot
	Ku_N	UniProtKB/Swiss-Prot
	SAP_dom	UniProtKB/Swiss-Prot
	SAP_dom_sf	UniProtKB/Swiss-Prot
	SPOC-like_C_dom_sf	UniProtKB/Swiss-Prot
	vWFA_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:2547	UniProtKB/Swiss-Prot
NCBI Gene	2547	ENTREZGENE
OMIM	152690	OMIM
PANTHER	KU AUTOANTIGEN DNA HELICASE	UniProtKB/Swiss-Prot
	X-RAY REPAIR CROSS-COMPLEMENTING PROTEIN 6	UniProtKB/Swiss-Prot
Pfam	Ku_C	UniProtKB/Swiss-Prot
	Ku_N	UniProtKB/Swiss-Prot
	PF02735	UniProtKB/Swiss-Prot
	SAP	UniProtKB/Swiss-Prot
PharmGKB	PA28467	PharmGKB
PIRSF	Ku70	UniProtKB/Swiss-Prot
PROSITE	SAP	UniProtKB/Swiss-Prot
SMART	Ku78	UniProtKB/Swiss-Prot
	SAP	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF100939	UniProtKB/Swiss-Prot
	SSF53300	UniProtKB/Swiss-Prot
	SSF68906	UniProtKB/Swiss-Prot
UniProt	B1AHC8	ENTREZGENE
	B1AHC9	ENTREZGENE, UniProtKB/TrEMBL
	B2RDN9	ENTREZGENE, UniProtKB/TrEMBL
	B4DE32	ENTREZGENE, UniProtKB/TrEMBL
	B4E356_HUMAN	UniProtKB/TrEMBL
	F5H1I8	ENTREZGENE
	P12956	ENTREZGENE
	Q6FG89	ENTREZGENE
	Q9UCQ2	ENTREZGENE
	Q9UCQ3	ENTREZGENE
	XRCC6_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B1AHC8	UniProtKB/Swiss-Prot
	Q6FG89	UniProtKB/Swiss-Prot
	Q9UCQ2	UniProtKB/Swiss-Prot
	Q9UCQ3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-07	XRCC6	X-ray repair cross complementing 6	XRCC6	X-ray repair complementing defective repair in Chinese hamster cells 6	Symbol and/or name change	5135510	APPROVED

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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)