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Gene: NPM2 (nucleophosmin/nucleoplasmin 2) Homo sapiens

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Symbol:

NPM2

Name:

nucleophosmin/nucleoplasmin 2

RGD ID:

737293

HGNC Page

HGNC:7930

Description:

Predicted to enable RNA binding activity; chromatin binding activity; and histone binding activity. Involved in several processes, including blastocyst development; oocyte differentiation; and regulation of cell cycle process. Located in chromatin and nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

MGC78655; nucleoplasmin-2

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):	Npm2 (nucleophosmin/nucleoplasmin 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Npm2 (nucleophosmin/nucleoplasmin 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Npm2 (nucleophosmin/nucleoplasmin 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NPM2 (nucleophosmin/nucleoplasmin 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	NPM2 (nucleophosmin/nucleoplasmin 2)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Npm2 (nucleophosmin/nucleoplasmin 2)	NCBI	Ortholog
Sus scrofa (pig):	NPM2 (nucleophosmin/nucleoplasmin 2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, Panther, Treefam
Chlorocebus sabaeus (green monkey):	NPM2 (nucleophosmin/nucleoplasmin 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Npm2 (nucleophosmin/nucleoplasmin 2)	NCBI	Ortholog
Rattus rattus (black rat):	Npm2 (nucleophosmin/nucleoplasmin 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Tbca (tubulin folding cofactor A)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Npm2 (nucleophosmin/nucleoplasmin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Npm2 (nucleophosmin/nucleoplasmin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	npm2b (nucleophosmin/nucleoplasmin, 2b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	npm2b (nucleophosmin/nucleoplasmin, 2b)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	npm2a (nucleophosmin/nucleoplasmin, 2a)	Alliance	DIOPT (OMA\|PANTHER\|ZFIN)
Danio rerio (zebrafish):	npm2a (nucleophosmin/nucleoplasmin, 2a)	Alliance	DIOPT (PANTHER\|ZFIN)
Drosophila melanogaster (fruit fly):	Nlp	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	Nlp	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Nph	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	Nph	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	npm2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	npm2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	npm2.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	npm2.S	Alliance	DIOPT (Xenbase)

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	8	22,024,134 - 22,036,897 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	22,024,125 - 22,036,897 (+)	Ensembl			hg38	GRCh38
GRCh37	8	21,881,645 - 21,894,408 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	21,938,300 - 21,950,354 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	8	21,938,299 - 21,950,353	NCBI
Celera	8	20,844,417 - 20,856,471 (+)	NCBI		Celera
Cytogenetic Map	8	p21.3	NCBI
HuRef	8	20,424,910 - 20,436,965 (+)	NCBI		HuRef
CHM1_1	8	22,084,017 - 22,096,071 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

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

2-palmitoylglycerol (EXP)

5-aza-2'-deoxycytidine (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

caffeine (EXP)

CGP 52608 (EXP)

copper(II) sulfate (EXP)

furan (ISO)

ketoconazole (ISO)

methapyrilene (EXP)

okadaic acid (EXP)

tetracycline (ISO)

trichloroethene (ISO)

Triptolide (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

blastocyst development (IMP)

chromatin organization (IEA)

chromatin remodeling (IBA,IDA,IEA)

oocyte differentiation (IEP)

positive regulation of catalytic activity (ISO)

positive regulation of DNA metabolic process (IEA,ISO)

positive regulation of DNA replication (IBA,IEA,ISO)

positive regulation of meiotic nuclear division (IMP)

regulation of exit from mitosis (IMP)

single fertilization (IEA,IMP)

Cellular Component

chromatin (IDA)

cytoplasm (IBA)

nucleolus (IBA)

nucleoplasm (IBA)

nucleus (IDA,IEA)

Molecular Function

chromatin binding (IBA,IEA)

enzyme binding (IEA,ISO)

histone binding (IBA,TAS)

identical protein binding (IEA,ISO)

protein binding (IPI)

RNA binding (IBA)

References

References - curated

#	Reference Title	Reference Citation
1.	Roles of NPM2 in chromatin and nucleolar organization in oocytes and embryos.	Burns KH, etal., Science 2003 Apr 25;300(5619):633-6.
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12209603	PMID:12477932	PMID:12581654	PMID:14702039	PMID:16344560	PMID:18029348	PMID:19491193	PMID:20508983	PMID:21863821	PMID:21873635	PMID:22362753	PMID:22968912
PMID:23251661	PMID:23602568	PMID:25416956	PMID:26871637	PMID:28514442	PMID:31515488	PMID:32296183	PMID:33961781	PMID:36280841	PMID:36963620

Genomics

Comparative Map Data

NPM2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	22,024,125 - 22,036,897 (+)	Ensembl			hg38	GRCh38
GRCh37	8	21,881,645 - 21,894,408 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	21,938,300 - 21,950,354 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	8	21,938,299 - 21,950,353	NCBI
Celera	8	20,844,417 - 20,856,471 (+)	NCBI		Celera
Cytogenetic Map	8	p21.3	NCBI
HuRef	8	20,424,910 - 20,436,965 (+)	NCBI		HuRef
CHM1_1	8	22,084,017 - 22,096,071 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI		T2T-CHM13v2.0

Npm2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	70,884,736 - 70,896,694 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	70,884,742 - 70,896,684 (-)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	14	70,647,296 - 70,661,802 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	70,647,302 - 70,659,244 (-)	Ensembl			mm10	GRCm38
MGSCv37	14	71,047,109 - 71,052,891 (-)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	14	69,382,382 - 69,388,164 (-)	NCBI		MGSCv36	mm8
Celera	14	68,190,707 - 68,196,480 (-)	NCBI		Celera
Cytogenetic Map	14	D2	NCBI
cM Map	14	36.42	NCBI

Npm2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	52,131,973 - 52,145,710 (-)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	15	52,132,058 - 52,139,027 (-)	Ensembl				GRCr8
mRatBN7.2	15	45,722,282 - 45,729,336 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	45,722,400 - 45,729,726 (-)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	15	49,840,342 - 49,847,082 (-)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	50,951,859 - 50,958,611 (-)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	47,811,165 - 47,817,917 (-)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	52,337,457 - 52,345,849 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	52,337,528 - 52,344,629 (-)	Ensembl			rn6	Rnor6.0
Rnor_5.0	15	56,059,958 - 56,069,203 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	15	51,049,549 - 51,056,301 (-)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	15	45,400,915 - 45,407,667 (-)	NCBI		Celera
RGSC_v3.1	15	51,065,328 - 51,072,081 (-)	NCBI
Cytogenetic Map	15	p11	NCBI

Npm2
(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_004955403	45,517,396 - 45,539,274 (+)	Ensembl
ChiLan1.0	NW_004955403	45,517,426 - 45,539,216 (+)	NCBI	ChiLan1.0	ChiLan1.0

NPM2
(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	7	40,525,794 - 40,538,583 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	16,250,911 - 16,263,720 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	21,268,873 - 21,281,684 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	18,208,934 - 18,221,577 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	18,208,934 - 18,221,577 (+)	Ensembl			panPan2	panpan1.1

NPM2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	25	35,204,905 - 35,226,226 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	35,793,840 - 35,815,160 (-)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	35,415,838 - 35,437,171 (-)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	35,415,839 - 35,437,249 (-)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	35,361,044 - 35,382,366 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	35,215,638 - 35,236,946 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	35,371,138 - 35,392,472 (-)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Npm2
(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_024404943	12,699,005 - 12,725,948 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936555	5,844,854 - 5,868,306 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936555	5,850,024 - 5,868,049 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NPM2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	6,289,337 - 6,303,748 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	14	6,288,422 - 6,303,750 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	6,726,207 - 6,745,688 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NPM2
(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	8	20,096,837 - 20,112,421 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	20,097,479 - 20,105,639 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666052	22,129,143 - 22,141,744 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Npm2
(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_004624758	17,618,821 - 17,630,737 (+)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624758	17,619,202 - 17,630,684 (+)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Npm2
(Rattus rattus - black rat)

Black Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Black Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rrattus_CSIRO_v1	12	53,699,761 - 53,706,542 (+)	NCBI		Rrattus_CSIRO_v1

Variants

Variants in NPM2
26 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000050297]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	copy number gain	See cases [RCV000051145]	Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	copy number gain	See cases [RCV000053629]	Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|See cases [RCV000053631]	Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	copy number gain	See cases [RCV000053633]	Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	copy number gain	See cases [RCV000053636]	Chr8:21654619..23001935 [GRCh38] Chr8:21512131..22859448 [GRCh37] Chr8:21556411..22915393 [NCBI36] Chr8:8p21.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	copy number gain	See cases [RCV000053599]	Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]\|See cases [RCV000054236]	Chr8:21482945..22853239 [GRCh38] Chr8:21340456..22710752 [GRCh37] Chr8:21384736..22766697 [NCBI36] Chr8:8p21.3	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	copy number gain	See cases [RCV000135967]	Chr8:241530..23198398 [GRCh38] Chr8:191530..23055911 [GRCh37] Chr8:181530..23111856 [NCBI36] Chr8:8p23.3-21.3	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	copy number gain	See cases [RCV000136026]	Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	copy number gain	See cases [RCV000136825]	Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	copy number gain	See cases [RCV000138058]	Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	copy number gain	See cases [RCV000137807]	Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	copy number gain	See cases [RCV000138831]	Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	copy number gain	See cases [RCV000138244]	Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	copy number gain	See cases [RCV000139891]	Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	copy number gain	See cases [RCV000139770]	Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	copy number gain	See cases [RCV000139549]	Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	copy number gain	See cases [RCV000141410]	Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	copy number loss	See cases [RCV000142516]	Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	copy number loss	See cases [RCV000142747]	Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000148252]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1	pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	copy number gain	See cases [RCV000203434]	Chr8:20478546..28986438 [GRCh37] Chr8:8p21.3-12	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	copy number gain	See cases [RCV000511325]	Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	copy number gain	See cases [RCV000239945]	Chr8:12580132..26774307 [GRCh37] Chr8:8p23.1-21.2	pathogenic
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	copy number gain	Autism [RCV000626542]	Chr8:12580104..25947329 [GRCh37] Chr8:8p23.1-21.2	pathogenic
Single allele	duplication	not provided [RCV000768452]	Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3	copy number gain	See cases [RCV000449225]	Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12	pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	copy number loss	See cases [RCV000447428]	Chr8:13091530..24483615 [GRCh37] Chr8:8p22-21.2	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	copy number gain	See cases [RCV000447913]	Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4	copy number gain	See cases [RCV000510404]	Chr8:21521340..22492009 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	copy number loss	not provided [RCV000509389]	Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12	not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	copy number gain	See cases [RCV000510571]	Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	copy number gain	See cases [RCV000511028]	Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	copy number gain	See cases [RCV000510899]	Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_001286680.2(NPM2):c.298C>T (p.Pro100Ser)	single nucleotide variant	not specified [RCV004313902]	Chr8:22033157 [GRCh38] Chr8:21890668 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	copy number gain	not provided [RCV000683041]	Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	copy number gain	not provided [RCV000683043]	Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	copy number gain	not provided [RCV000683042]	Chr8:1825200..24533193 [GRCh37] Chr8:8p23.3-21.2	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	copy number gain	not provided [RCV000762735]	Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12	likely pathogenic
NM_001286680.2(NPM2):c.369A>C (p.Ala123=)	single nucleotide variant	not provided [RCV000970996]	Chr8:22034113 [GRCh38] Chr8:21891624 [GRCh37] Chr8:8p21.3	benign
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	copy number loss	not provided [RCV000849161]	Chr8:21662847..24199218 [GRCh37] Chr8:8p21.3-21.2	pathogenic
GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1	copy number loss	not provided [RCV000846265]	Chr8:21077580..22144930 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	copy number gain	not provided [RCV000847279]	Chr8:20564910..22629124 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3	copy number gain	not provided [RCV000846785]	Chr8:21840451..22037635 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3	copy number gain	not provided [RCV000846113]	Chr8:21717395..22395625 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.572G>T (p.Ser191Ile)	single nucleotide variant	not specified [RCV004305660]	Chr8:22036498 [GRCh38] Chr8:21894009 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	copy number gain	not provided [RCV001260030]	Chr8:12528482..29886483 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	copy number gain	Abnormal fetal cardiovascular morphology [RCV001291977]	Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p21.3(chr8:21303187-22230498)	copy number gain	not specified [RCV002053755]	Chr8:21303187..22230498 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.337G>A (p.Val113Met)	single nucleotide variant	not specified [RCV004302686]	Chr8:22033196 [GRCh38] Chr8:21890707 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	copy number loss	See cases [RCV002286343]	Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12	pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	copy number gain	not provided [RCV002279745]	Chr8:19779604..26531980 [GRCh37] Chr8:8p21.3-21.2	pathogenic
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
NM_001286680.2(NPM2):c.619G>A (p.Ala207Thr)	single nucleotide variant	not specified [RCV004095758]	Chr8:22036656 [GRCh38] Chr8:21894167 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.154G>A (p.Gly52Arg)	single nucleotide variant	not specified [RCV004231307]	Chr8:22025656 [GRCh38] Chr8:21883167 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.476G>T (p.Ser159Ile)	single nucleotide variant	not specified [RCV004082931]	Chr8:22034220 [GRCh38] Chr8:21891731 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.278T>C (p.Met93Thr)	single nucleotide variant	not specified [RCV004100559]	Chr8:22033137 [GRCh38] Chr8:21890648 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.269T>C (p.Met90Thr)	single nucleotide variant	not specified [RCV004123152]	Chr8:22025771 [GRCh38] Chr8:21883282 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.523G>A (p.Val175Met)	single nucleotide variant	not specified [RCV004090104]	Chr8:22034267 [GRCh38] Chr8:21891778 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.466G>C (p.Glu156Gln)	single nucleotide variant	not specified [RCV004270859]	Chr8:22034210 [GRCh38] Chr8:21891721 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	copy number loss	Microcephaly [RCV003327707]	Chr8:12721809..30183737 [GRCh38] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	copy number loss	Neurodevelopmental disorder [RCV003327729]	Chr8:449893..23854904 [GRCh38] Chr8:8p23.3-21.2	pathogenic
NM_001286680.2(NPM2):c.457A>G (p.Ile153Val)	single nucleotide variant	not specified [RCV004336940]	Chr8:22034201 [GRCh38] Chr8:21891712 [GRCh37] Chr8:8p21.3	likely benign
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	copy number gain	not provided [RCV003484724]	Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22	pathogenic
Single allele	duplication	not provided [RCV003448690]	Chr8:20868762..22701502 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	copy number gain	not provided [RCV003484713]	Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21	pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	copy number gain	not provided [RCV003484722]	Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23	pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	copy number gain	not provided [RCV003484725]	Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1	pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	copy number loss	not provided [RCV003483018]	Chr8:12490999..28150620 [GRCh37] Chr8:8p23.1-21.1	pathogenic
Single allele	duplication	not provided [RCV003448693]	Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	copy number gain	not specified [RCV003986756]	Chr8:158048..41600696 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	copy number gain	not specified [RCV003986767]	Chr8:20136266..43786723 [GRCh37] Chr8:8p21.3-11.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_001286680.2(NPM2):c.320G>C (p.Arg107Pro)	single nucleotide variant	not specified [RCV004491063]	Chr8:22033179 [GRCh38] Chr8:21890690 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.359G>A (p.Arg120His)	single nucleotide variant	not specified [RCV004491064]	Chr8:22033218 [GRCh38] Chr8:21890729 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.614C>T (p.Ala205Val)	single nucleotide variant	not specified [RCV004644101]	Chr8:22036651 [GRCh38] Chr8:21894162 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.557A>G (p.Glu186Gly)	single nucleotide variant	not specified [RCV004644102]	Chr8:22034535 [GRCh38] Chr8:21892046 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.94T>C (p.Phe32Leu)	single nucleotide variant	not specified [RCV004838091]	Chr8:22025471 [GRCh38] Chr8:21882982 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1	copy number loss	not provided [RCV004819357]	Chr8:158049..24812752 [GRCh37] Chr8:8p23.3-21.2	pathogenic
NM_001286680.2(NPM2):c.301C>T (p.Pro101Ser)	single nucleotide variant	not specified [RCV004838090]	Chr8:22033160 [GRCh38] Chr8:21890671 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.70A>G (p.Ser24Gly)	single nucleotide variant	not specified [RCV004838089]	Chr8:22025447 [GRCh38] Chr8:21882958 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.343C>T (p.Leu115Phe)	single nucleotide variant	not specified [RCV004838092]	Chr8:22033202 [GRCh38] Chr8:21890713 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.14G>C (p.Ser5Thr)	single nucleotide variant	not specified [RCV005379299]	Chr8:22025262 [GRCh38] Chr8:21882773 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.59G>T (p.Gly20Val)	single nucleotide variant	not specified [RCV005379300]	Chr8:22025436 [GRCh38] Chr8:21882947 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.332G>A (p.Gly111Glu)	single nucleotide variant	not specified [RCV005379298]	Chr8:22033191 [GRCh38] Chr8:21890702 [GRCh37] Chr8:8p21.3	uncertain significance
NM_001286680.2(NPM2):c.391G>A (p.Glu131Lys)	single nucleotide variant	not specified [RCV005387732]	Chr8:22034135 [GRCh38] Chr8:21891646 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158048-25520248)x1	copy number loss	not provided [RCV005429146]	Chr8:158048..25520248 [GRCh37] Chr8:8p23.3-21.2	not provided

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	4287
Count of miRNA genes:	833
Interacting mature miRNAs:	1025
Transcripts:	ENST00000289820, ENST00000381530, ENST00000397940, ENST00000518119, ENST00000519373, ENST00000520125, ENST00000520180, ENST00000520456, ENST00000521157, ENST00000522813, ENST00000522953, ENST00000524322
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
1298482	BP2_H	Blood pressure QTL 2 (human)	1.8		Blood pressure	diastolic	8	6953256	32953256	Human
628861882	GWAS2770111_H	smoking initiation QTL GWAS2770111 (human)		3e-16	behavior trait (VT:0010442)		8	22031342	22031343	Human
407045729	GWAS694705_H	birth weight QTL GWAS694705 (human)		0.000005	body mass (VT:0001259)	neonatal body weight (CMO:0002079)	8	22027033	22027034	Human
628846808	GWAS2755037_H	smoking initiation QTL GWAS2755037 (human)		1e-16	behavior trait (VT:0010442)		8	22031342	22031343	Human
597140273	GWAS1236347_H	smoking initiation QTL GWAS1236347 (human)		3e-16	smoking initiation		8	22031342	22031343	Human
597335997	GWAS1432071_H	smoking initiation QTL GWAS1432071 (human)		1e-16	smoking initiation		8	22031342	22031343	Human
628907125	GWAS2815354_H	cholestasis QTL GWAS2815354 (human)		0.0000007	cholestasis		8	22034457	22034458	Human
597029471	GWAS1125545_H	cerebrospinal fluid biomarker measurement QTL GWAS1125545 (human)		1e-16	cerebrospinal fluid biomarker measurement		8	22031059	22031060	Human
406898862	GWAS547838_H	smoking initiation QTL GWAS547838 (human)		3e-16	smoking initiation		8	22031342	22031343	Human
628623671	GWAS2531900_H	cerebrospinal fluid composition attribute QTL GWAS2531900 (human)		1e-16	cerebrospinal fluid composition attribute		8	22031059	22031060	Human
407087664	GWAS736640_H	cerebrospinal fluid biomarker measurement QTL GWAS736640 (human)		1e-16	cerebrospinal fluid biomarker measurement		8	22031059	22031060	Human
407323892	GWAS972868_H	smoking initiation QTL GWAS972868 (human)		1e-16	smoking initiation		8	22031342	22031343	Human
597323913	GWAS1419987_H	educational attainment QTL GWAS1419987 (human)		0.0000001	educational attainment		8	22031342	22031343	Human
407358033	GWAS1007009_H	educational attainment QTL GWAS1007009 (human)		0.0000001	educational attainment		8	22031342	22031343	Human
628889227	GWAS2797456_H	educational attainment QTL GWAS2797456 (human)		0.0000001	educational attainment		8	22031342	22031343	Human
1558703	SCL6_H	Serum cholesterol level QTL 1 (human)	1.2		Lipid level	HDL cholesterol	8	12468635	38468635	Human
597991544	GWAS1710843_H	cerebrospinal fluid composition attribute QTL GWAS1710843 (human)		1e-16	cerebrospinal fluid composition attribute		8	22031059	22031060	Human
625829650	GWAS2250572_H	cholestasis QTL GWAS2250572 (human)		0.0000007	cholestasis		8	22034457	22034458	Human

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	renal system	reproductive system	respiratory system	sensory system	visual system
1199	2420	2710	2235	4943	1718	2313	4	617	1862	460	2245	7091	6354	46	3726	830	1716	1584	171	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001286680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001413121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_182795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_182112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024447051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047421220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC091171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY262113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY262114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC068078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB262972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000289820 ⟹ ENSP00000289820

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,843 - 22,036,897 (+)	Ensembl

Ensembl Acc Id:

ENST00000381530 ⟹ ENSP00000370941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,851 - 22,036,897 (+)	Ensembl

Ensembl Acc Id:

ENST00000397940 ⟹ ENSP00000381032

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,134 - 22,036,896 (+)	Ensembl

Ensembl Acc Id:

ENST00000518119 ⟹ ENSP00000427741

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,134 - 22,036,897 (+)	Ensembl

Ensembl Acc Id:

ENST00000519373

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,034,219 - 22,036,896 (+)	Ensembl

Ensembl Acc Id:

ENST00000520125 ⟹ ENSP00000429984

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,125 - 22,033,156 (+)	Ensembl

Ensembl Acc Id:

ENST00000520180

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,760 - 22,034,148 (+)	Ensembl

Ensembl Acc Id:

ENST00000520456

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,034,108 - 22,036,897 (+)	Ensembl

Ensembl Acc Id:

ENST00000521157 ⟹ ENSP00000429413

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,125 - 22,036,863 (+)	Ensembl

Ensembl Acc Id:

ENST00000522813 ⟹ ENSP00000428016

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,137 - 22,034,155 (+)	Ensembl

Ensembl Acc Id:

ENST00000522953

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,033,101 - 22,036,540 (+)	Ensembl

Ensembl Acc Id:

ENST00000524322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,036,491 - 22,036,779 (+)	Ensembl

Ensembl Acc Id:

ENST00000615914 ⟹ ENSP00000481018

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,025,249 - 22,036,504 (+)	Ensembl

Ensembl Acc Id:

ENST00000621538 ⟹ ENSP00000481077

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,025,249 - 22,036,682 (+)	Ensembl

Ensembl Acc Id:

ENST00000962009 ⟹ ENSP00000632068

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,166 - 22,036,894 (+)	Ensembl

Ensembl Acc Id:

ENST00000962010 ⟹ ENSP00000632069

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,203 - 22,036,896 (+)	Ensembl

Ensembl Acc Id:

ENST00000962011 ⟹ ENSP00000632070

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,024,600 - 22,036,896 (+)	Ensembl

RefSeq Acc Id:

NM_001286680 ⟹ NP_001273609

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
HuRef	8	20,424,177 - 20,436,965 (+)	NCBI
CHM1_1	8	22,083,284 - 22,096,071 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

Sequence:

show sequence

AGTGTGCTCCCCGCCCCCTGCCGCGGCGCCTCGCCTCCCGGCTCACCTCCCCACCCCACCTGCC
CGCTGCGGCTCTCCGCGGGAGATCTCACCGTTCTGGAGACAGGGCTCGCTCGCTCTCACGGTAG
GCTGGAAGAACGGGCTGTCTGGGCCTTAGGAAAGGCCCATGCTGTATAAGGCATGGGGAAAGGA
AAGGAAGAAAGGCAACGAACAAGAAGGAGGGCTTCCAACTGCAGCTTCCTGCCGGCTGCAGGCC
TCCCTTCCTAAGCTGAGCTGAGGCTTCCTCTCCATGGGCTGGGGAGGGGGCGCCAGGAGGCCTC
GGCGGGTCCGCAATTGGCCGGGACAGCTTCTCACGAAAGGTCCTGGGCCGGCATCATCAGCCTC
ACCTGGGAACTGGTTAGAACTACAAATTCCCTCGGCCCCACCCAGACCGACGCCAAGGGCAGCT
GTGGAGTGGGGCGCGGCAATGCGCCCCTTAACAGCCCTCCAGGCTTCTTAGCCCGGGCTTGGAC
AGCCGCCTTCCGGCCAGAGGGGATGAGGTTGCGCTGCGCTCCGGGAGCGCCGATGGCGTGACTG
GCCCCGCGCGGAGCAGCGACACTGCCCGGCCAGCCCGCTTCTCTGCCCGGAGCCATGAATCTCA
GTAGCGCCAGTAGCACGGAGGAAAAGGCAGTGACGACCGTGCTCTGGGGCTGCGAGCTCAGTCA
GGAGAGGCGGACTTGGACCTTCAGACCCCAGCTGGAGGGGAAGCAGAGCTGCAGGCTGTTGCTT
CATACGATTTGCTTGGGGGAGAAAGCCAAAGAGGAGATGCATCGCGTGGAGATCCTGCCCCCAG
CAAACCAGGAGGACAAGAAGATGCAGCCGGTCACCATTGCCTCACTCCAGGCCTCAGTCCTCCC
CATGGTCTCCATGGTAGGAGTGCAGCTTTCTCCCCCAGTTACTTTCCAGCTCCGGGCTGGCTCA
GGACCCGTGTTCCTCAGTGGCCAGGAACGTTATGAAGCATCAGACCTAACCTGGGAGGAGGAGG
AGGAAGAAGAAGGGGAGGAGGAGGAAGAGGAAGAGGAAGATGATGAGGATGAGGATGCAGATAT
ATCTCTGGAGGAGCAAAGCCCTGTCAAACAAGTCAAAAGGCTGGTGCCCCAGAAGCAGGCGAGC
GTGGCTAAGAAAAAAAAGCTGGAAAAAGAAGAAGAGGAAATAAGAGCCAGCGTTAGAGACAAGA
GCCCTGTGAAAAAGGCCAAAGCCACAGCCAGAGCCAAGAAGCCAGGATTCAAGAAATGAGGAGC
CACGCCTTGGGGGGCACGGTGCAAAGTGGGCCTTCCCTGGGCTGTGCTGCAGGCACAGGGTGCC
CCTGTCCAGCCCCTCCACCTGTGTCTGAATGCAACAGGGGTGTTGCGGGGGCAACATGAGAGCC
CCTCACCCCCAACTCTCCACTTTCAGGAGGCCCCCAGTGAAGAGCCCCACCTCGGGGTCACAAT
AAAGTTGCCTGGTCAGGA

hide sequence

RefSeq Acc Id:

NM_001286681 ⟹ NP_001273610

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
HuRef	8	20,424,177 - 20,436,965 (+)	NCBI
CHM1_1	8	22,084,017 - 22,096,071 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

Sequence:

show sequence

GGGGGGAGCTGGGACCTAAGCCGCGCGCACACCCCTTTCTCTGCGTCTGGTGGAGGTGCACAGA
GGCTTTTGAGTCAGGCCCAAGCGCAGCCAGGTGACCTCCCCGCGGCCTTTCAAGCCTGAGCTCG
GTGGACAGCTCCCTCTCCCGTGAGTCCCGCTGTCCTGTACGCGCCCGGTCGAGCCCCGGGCTGC
GCACCCCGCTAGGAGCTGCCCGGCCAGCCCGCTTCTCTGCCCGGAGCCATGAATCTCAGTAGCG
CCAGTAGCACGGAGGAAAAGGCAGTGACGACCGTGCTCTGGGGCTGCGAGCTCAGTCAGGAGAG
GCGGACTTGGACCTTCAGACCCCAGCTGGAGGGGAAGCAGAGCTGCAGGCTGTTGCTTCATACG
ATTTGCTTGGGGGAGAAAGCCAAAGAGGAGATGCATCGCGTGGAGATCCTGCCCCCAGCAAACC
AGGAGGACAAGAAGATGCAGCCGGTCACCATTGCCTCACTCCAGGCCTCAGTCCTCCCCATGGT
CTCCATGGTAGGAGTGCAGCTTTCTCCCCCAGTTACTTTCCAGCTCCGGGCTGGCTCAGGACCC
GTGTTCCTCAGTGGCCAGGAACGTTATGAAAAAAAAGCTGGAAAAAGAAGAAGAGGAAATAAGA
GCCAGCGTTAGAGACAAGAGCCCTGTGAAAAAGGCCAAAGCCACAGCCAGAGCCAAGAAGCCAG
GATTCAAGAAATGAGGAGCCACGCCTTGGGGGGCACGGTGCAAAGTGGGCCTTCCCTGGGCTGT
GCTGCAGGCACAGGGTGCCCCTGTCCAGCCCCTCCACCTGTGTCTGAATGCAACAGGGGTGTTG
CGGGGGCAACATGAGAGCCCCTCACCCCCAACTCTCCACTTTCAGGAGGCCCCCAGTGAAGAGC
CCCACCTCGGGGTCACAATAAAGTTGCCTGGTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001413113 ⟹ NP_001400042

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

RefSeq Acc Id:

NM_001413114 ⟹ NP_001400043

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

RefSeq Acc Id:

NM_001413115 ⟹ NP_001400044

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

RefSeq Acc Id:

NM_001413116 ⟹ NP_001400045

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

RefSeq Acc Id:

NM_001413117 ⟹ NP_001400046

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,034 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,309,991 (+)	NCBI

RefSeq Acc Id:

NM_001413118 ⟹ NP_001400047

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,034 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,309,991 (+)	NCBI

RefSeq Acc Id:

NM_001413119 ⟹ NP_001400048

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,034 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,309,991 (+)	NCBI

RefSeq Acc Id:

NM_001413120 ⟹ NP_001400049

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

RefSeq Acc Id:

NM_001413121 ⟹ NP_001400050

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

RefSeq Acc Id:

NM_182795 ⟹ NP_877724

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
GRCh37	8	21,881,621 - 21,894,408 (+)	NCBI
Build 36	8	21,938,300 - 21,950,354 (+)	NCBI Archive
Celera	8	20,844,417 - 20,856,471 (+)	RGD
HuRef	8	20,424,177 - 20,436,965 (+)	NCBI
CHM1_1	8	22,084,017 - 22,096,071 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

Sequence:

show sequence

GGGGGGAGCTGGGACCTAAGCCGCGCGCACACCCCTTTCTCTGCGTCTGGTGGAGGTGCACAGA
GGCTTTTGAGTCAGGCCCAAGCGCAGCCAGGTGACCTCCCCGCGGCCTTTCAAGCCTGAGCTCG
GTGGACAGCTCCCTCTCCCGTGAGTCCCGCTGTCCTGTACGCGCCCGGTCGAGCCCCGGGCTGC
GCACCCCGCTAGGAGCTGCCCGGCCAGCCCGCTTCTCTGCCCGGAGCCATGAATCTCAGTAGCG
CCAGTAGCACGGAGGAAAAGGCAGTGACGACCGTGCTCTGGGGCTGCGAGCTCAGTCAGGAGAG
GCGGACTTGGACCTTCAGACCCCAGCTGGAGGGGAAGCAGAGCTGCAGGCTGTTGCTTCATACG
ATTTGCTTGGGGGAGAAAGCCAAAGAGGAGATGCATCGCGTGGAGATCCTGCCCCCAGCAAACC
AGGAGGACAAGAAGATGCAGCCGGTCACCATTGCCTCACTCCAGGCCTCAGTCCTCCCCATGGT
CTCCATGGTAGGAGTGCAGCTTTCTCCCCCAGTTACTTTCCAGCTCCGGGCTGGCTCAGGACCC
GTGTTCCTCAGTGGCCAGGAACGTTATGAAGCATCAGACCTAACCTGGGAGGAGGAGGAGGAAG
AAGAAGGGGAGGAGGAGGAAGAGGAAGAGGAAGATGATGAGGATGAGGATGCAGATATATCTCT
GGAGGAGCAAAGCCCTGTCAAACAAGTCAAAAGGCTGGTGCCCCAGAAGCAGGCGAGCGTGGCT
AAGAAAAAAAAGCTGGAAAAAGAAGAAGAGGAAATAAGAGCCAGCGTTAGAGACAAGAGCCCTG
TGAAAAAGGCCAAAGCCACAGCCAGAGCCAAGAAGCCAGGATTCAAGAAATGAGGAGCCACGCC
TTGGGGGGCACGGTGCAAAGTGGGCCTTCCCTGGGCTGTGCTGCAGGCACAGGGTGCCCCTGTC
CAGCCCCTCCACCTGTGTCTGAATGCAACAGGGGTGTTGCGGGGGCAACATGAGAGCCCCTCAC
CCCCAACTCTCCACTTTCAGGAGGCCCCCAGTGAAGAGCCCCACCTCGGGGTCACAATAAAGTT
GCCTGGTCAGGAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_182112

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,024,134 - 22,036,897 (+)	NCBI
T2T-CHM13v2.0	8	22,298,091 - 22,310,854 (+)	NCBI

RefSeq Acc Id:

XM_047421220 ⟹ XP_047277176

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,025,059 - 22,036,897 (+)	NCBI

RefSeq Acc Id:

XM_054359535 ⟹ XP_054215510

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	22,299,016 - 22,310,854 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001273609	(Get FASTA)	NCBI Sequence Viewer
	NP_001273610	(Get FASTA)	NCBI Sequence Viewer
	NP_001400042	(Get FASTA)	NCBI Sequence Viewer
	NP_001400043	(Get FASTA)	NCBI Sequence Viewer
	NP_001400044	(Get FASTA)	NCBI Sequence Viewer
	NP_001400045	(Get FASTA)	NCBI Sequence Viewer
	NP_001400046	(Get FASTA)	NCBI Sequence Viewer
	NP_001400047	(Get FASTA)	NCBI Sequence Viewer
	NP_001400048	(Get FASTA)	NCBI Sequence Viewer
	NP_001400049	(Get FASTA)	NCBI Sequence Viewer
	NP_001400050	(Get FASTA)	NCBI Sequence Viewer
	NP_877724	(Get FASTA)	NCBI Sequence Viewer
	XP_047277176	(Get FASTA)	NCBI Sequence Viewer
	XP_054215510	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH68078	(Get FASTA)	NCBI Sequence Viewer
	AAP33134	(Get FASTA)	NCBI Sequence Viewer
	AAP33135	(Get FASTA)	NCBI Sequence Viewer
	BAG52852	(Get FASTA)	NCBI Sequence Viewer
	EAW63730	(Get FASTA)	NCBI Sequence Viewer
	EAW63731	(Get FASTA)	NCBI Sequence Viewer
	EAW63732	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000289820
	ENSP00000289820.6
	ENSP00000370941
	ENSP00000370941.5
	ENSP00000381032
	ENSP00000381032.1
	ENSP00000427741
	ENSP00000427741.1
	ENSP00000429413.1
	ENSP00000481018
	ENSP00000481018.1
	ENSP00000481077.1
	ENSP00000632068
	ENSP00000632070
GenBank Protein	Q86SE8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_877724 ⟸ NM_182795
- Peptide Label:	isoform 1
- UniProtKB:	D3DSQ8 (UniProtKB/Swiss-Prot), B3KSU0 (UniProtKB/Swiss-Prot), Q6NVH6 (UniProtKB/Swiss-Prot), Q86SE8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNLSSASSTEEKAVTTVLWGCELSQERRTWTFRPQLEGKQSCRLLLHTICLGEKAKEEMHRVEI LPPANQEDKKMQPVTIASLQASVLPMVSMVGVQLSPPVTFQLRAGSGPVFLSGQERYEASDLTW EEEEEEEGEEEEEEEEDDEDEDADISLEEQSPVKQVKRLVPQKQASVAKKKKLEKEEEEIRASV RDKSPVKKAKATARAKKPGFKK hide sequence

RefSeq Acc Id:	NP_001273609 ⟸ NM_001286680
- Peptide Label:	isoform 1
- UniProtKB:	D3DSQ8 (UniProtKB/Swiss-Prot), B3KSU0 (UniProtKB/Swiss-Prot), Q6NVH6 (UniProtKB/Swiss-Prot), Q86SE8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNLSSASSTEEKAVTTVLWGCELSQERRTWTFRPQLEGKQSCRLLLHTICLGEKAKEEMHRVEI LPPANQEDKKMQPVTIASLQASVLPMVSMVGVQLSPPVTFQLRAGSGPVFLSGQERYEASDLTW EEEEEEEGEEEEEEEEDDEDEDADISLEEQSPVKQVKRLVPQKQASVAKKKKLEKEEEEIRASV RDKSPVKKAKATARAKKPGFKK hide sequence

RefSeq Acc Id:	NP_001273610 ⟸ NM_001286681
- Peptide Label:	isoform 2
- UniProtKB:	E5RFQ8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNLSSASSTEEKAVTTVLWGCELSQERRTWTFRPQLEGKQSCRLLLHTICLGEKAKEEMHRVEI LPPANQEDKKMQPVTIASLQASVLPMVSMVGVQLSPPVTFQLRAGSGPVFLSGQERYEKKAGKR RRGNKSQR hide sequence

Ensembl Acc Id:

ENSP00000481077 ⟸ ENST00000621538

Ensembl Acc Id:

ENSP00000427741 ⟸ ENST00000518119

Ensembl Acc Id:

ENSP00000429984 ⟸ ENST00000520125

Ensembl Acc Id:

ENSP00000429413 ⟸ ENST00000521157

Ensembl Acc Id:

ENSP00000481018 ⟸ ENST00000615914

Ensembl Acc Id:

ENSP00000428016 ⟸ ENST00000522813

Ensembl Acc Id:

ENSP00000289820 ⟸ ENST00000289820

Ensembl Acc Id:

ENSP00000370941 ⟸ ENST00000381530

Ensembl Acc Id:

ENSP00000381032 ⟸ ENST00000397940

RefSeq Acc Id:	XP_047277176 ⟸ XM_047421220
- Peptide Label:	isoform X1
- UniProtKB:	Q86SE8 (UniProtKB/Swiss-Prot), D3DSQ8 (UniProtKB/Swiss-Prot), B3KSU0 (UniProtKB/Swiss-Prot), Q6NVH6 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001400045 ⟸ NM_001413116
- Peptide Label:	isoform 1
- UniProtKB:	Q86SE8 (UniProtKB/Swiss-Prot), D3DSQ8 (UniProtKB/Swiss-Prot), B3KSU0 (UniProtKB/Swiss-Prot), Q6NVH6 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001400043 ⟸ NM_001413114
- Peptide Label:	isoform 3

RefSeq Acc Id:	NP_001400049 ⟸ NM_001413120
- Peptide Label:	isoform 4

RefSeq Acc Id:	NP_001400050 ⟸ NM_001413121
- Peptide Label:	isoform 2
- UniProtKB:	E5RFQ8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001400042 ⟸ NM_001413113
- Peptide Label:	isoform 1
- UniProtKB:	Q86SE8 (UniProtKB/Swiss-Prot), D3DSQ8 (UniProtKB/Swiss-Prot), B3KSU0 (UniProtKB/Swiss-Prot), Q6NVH6 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001400044 ⟸ NM_001413115
- Peptide Label:	isoform 4

RefSeq Acc Id:	NP_001400048 ⟸ NM_001413119
- Peptide Label:	isoform 5

RefSeq Acc Id:	NP_001400046 ⟸ NM_001413117
- Peptide Label:	isoform 5

RefSeq Acc Id:	NP_001400047 ⟸ NM_001413118
- Peptide Label:	isoform 5

RefSeq Acc Id:	XP_054215510 ⟸ XM_054359535
- Peptide Label:	isoform X1
- UniProtKB:	Q86SE8 (UniProtKB/Swiss-Prot), D3DSQ8 (UniProtKB/Swiss-Prot), B3KSU0 (UniProtKB/Swiss-Prot), Q6NVH6 (UniProtKB/Swiss-Prot)

Ensembl Acc Id:

ENSP00000632070 ⟸ ENST00000962011

Ensembl Acc Id:

ENSP00000632069 ⟸ ENST00000962010

Ensembl Acc Id:

ENSP00000632068 ⟸ ENST00000962009

Protein Domains

Nucleoplasmin core

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q86SE8-F1-model_v2	AlphaFold	Q86SE8	1-214	view protein structure

Promoters

RGD ID:

6806904

Promoter ID:

HG_KWN:60861

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid, NB4

Transcripts:

ENST00000381530, NM_182795, UC003XAB.1, UC003XAC.1, UC003XAD.1, UC003XAF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	21,937,299 - 21,937,799 (+)	MPROMDB

RGD ID:

7212767

Promoter ID:

EPDNEW_H12129

Type:

initiation region

Name:

NPM2_1

Description:

nucleophosmin/nucleoplasmin 2

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	8	22,024,773 - 22,024,833	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:7930	AgrOrtholog
COSMIC	NPM2	COSMIC
Ensembl Genes	ENSG00000158806	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000289820	ENTREZGENE
	ENST00000289820.10	UniProtKB/Swiss-Prot
	ENST00000381530	ENTREZGENE
	ENST00000381530.9	UniProtKB/Swiss-Prot
	ENST00000397940	ENTREZGENE
	ENST00000397940.5	UniProtKB/Swiss-Prot
	ENST00000518119	ENTREZGENE
	ENST00000518119.6	UniProtKB/Swiss-Prot
	ENST00000521157.5	UniProtKB/Swiss-Prot
	ENST00000615914	ENTREZGENE
	ENST00000615914.1	UniProtKB/Swiss-Prot
	ENST00000621538.4	UniProtKB/Swiss-Prot
	ENST00000962009	ENTREZGENE
	ENST00000962011	ENTREZGENE
Gene3D-CATH	Nucleoplasmin core domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000158806	GTEx
HGNC ID	HGNC:7930	ENTREZGENE
Human Proteome Map	NPM2	Human Proteome Map
InterPro	Nucleoplasmin	UniProtKB/Swiss-Prot
	Nucleoplasmin_core_dom	UniProtKB/Swiss-Prot
	Nucleoplasmin_core_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:10361	UniProtKB/Swiss-Prot
NCBI Gene	10361	ENTREZGENE
OMIM	608073	OMIM
PANTHER	NUCLEOPLASMIN-2	UniProtKB/Swiss-Prot
	PTHR22747	UniProtKB/Swiss-Prot
Pfam	Nucleoplasmin	UniProtKB/Swiss-Prot
PharmGKB	PA31732	PharmGKB
Superfamily-SCOP	SSF69203	UniProtKB/Swiss-Prot
UniProt	B3KSU0	ENTREZGENE
	D3DSQ8	ENTREZGENE
	E5RFQ8	ENTREZGENE, UniProtKB/TrEMBL
	E5RGN1_HUMAN	UniProtKB/TrEMBL
	NPM2_HUMAN	UniProtKB/Swiss-Prot
	Q6NVH6	ENTREZGENE
	Q86SE8	ENTREZGENE
UniProt Secondary	B3KSU0	UniProtKB/Swiss-Prot
	D3DSQ8	UniProtKB/Swiss-Prot
	Q6NVH6	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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