EPN2 (epsin 2) - Rat Genome Database

Name: EPN2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: EPN2 (epsin 2) Homo sapiens

Analyze

Symbol:

EPN2

Name:

epsin 2

RGD ID:

1351510

HGNC Page

HGNC:18639

Description:

Enables cadherin binding activity. Involved in negative regulation of sprouting angiogenesis; negative regulation of vascular endothelial growth factor receptor signaling pathway; and positive regulation of Notch signaling pathway. Located in intracellular membrane-bounded organelle.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

EHB21; EPS-15-interacting protein 2; Eps15 binding protein; epsin-2; KIAA1065

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):	Epn2 (epsin 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Epn2 (epsin 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Epn2 (epsin 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	EPN2 (epsin 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	EPN2 (epsin 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Epn2 (epsin 2)	NCBI	Ortholog
Sus scrofa (pig):	EPN2 (epsin 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	EPN2 (epsin 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Epn2 (epsin 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Palb2 (partner and localizer of BRCA2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Epn2 (epsin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Epn2 (epsin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	epn2 (epsin 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	ENT1	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER)
Caenorhabditis elegans (roundworm):	epn-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	lqf	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	ENT2	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER)
Saccharomyces cerevisiae (baker's yeast):	ENT4	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	epn2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	epn2.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	epn2.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

AC009831.2

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	17	19,237,366 - 19,336,715 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	19,215,615 - 19,336,715 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	19,140,679 - 19,240,028 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	19,081,283 - 19,180,621 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	19,081,302 - 19,180,620	NCBI
Celera	17	16,598,294 - 16,653,109 (+)	NCBI		Celera
Cytogenetic Map	17	p11.2	NCBI
HuRef	17	18,520,401 - 18,619,785 (+)	NCBI		HuRef
CHM1_1	17	19,149,312 - 19,248,777 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	19,185,353 - 19,284,762 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

common variable immunodeficiency 2 (IAGP)

genetic disease (IAGP)

Joubert syndrome 1 (IAGP)

Meckel Syndrome 9 (IAGP)

Potocki-Lupski syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

2-ethoxyethanol (ISO)

2-hydroxypropanoic acid (EXP)

2-methoxyethanol (ISO)

2-methylcholine (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (ISO)

Aflatoxin B2 alpha (EXP)

ammonium chloride (ISO)

atrazine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

Brodifacoum (ISO)

C60 fullerene (ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

choline (ISO)

chromium(6+) (ISO)

cobalt dichloride (EXP)

decabromodiphenyl ether (ISO)

diclofenac (EXP)

doxorubicin (EXP)

elemental selenium (EXP)

ethanol (ISO)

fenvalerate (ISO)

ferric oxide (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

hydralazine (EXP)

ivermectin (EXP)

L-methionine (ISO)

menadione (EXP)

methapyrilene (EXP)

oxaliplatin (ISO)

paracetamol (ISO)

paraquat (ISO)

pentachlorophenol (ISO)

potassium chromate (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

selenium atom (EXP)

sodium arsenate (ISO)

Soman (ISO)

tamoxifen (ISO)

tetrachloromethane (ISO)

topotecan (ISO)

trichloroethene (ISO)

trimellitic anhydride (ISO)

troglitazone (ISO)

valproic acid (EXP)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

embryonic organ development (ISO)

endocytosis (IBA,IEA)

in utero embryonic development (ISO)

negative regulation of sprouting angiogenesis (IMP)

negative regulation of vascular endothelial growth factor receptor signaling pathway (IMP)

Notch signaling pathway (ISO)

positive regulation of Notch signaling pathway (IMP)

regulation of endocytosis (ISO)

Cellular Component

clathrin coat of endocytic vesicle (ISO)

clathrin vesicle coat (IBA,IEA)

clathrin-coated vesicle (IEA)

cytoplasm (IEA)

cytoplasmic vesicle (IEA)

cytosol (TAS)

endosome (IBA,IEA)

intracellular membrane-bounded organelle (IDA)

plasma membrane (IBA,IEA)

postsynaptic endocytic zone (ISO)

Molecular Function

cadherin binding (HDA)

clathrin binding (IBA,IEA)

lipid binding (IEA)

phospholipid binding (IBA,IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

endocytosis pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Agenesis of cerebellar vermis (IAGP)

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	The epsins define a family of proteins that interact with components of the clathrin coat and contain a new protein module.	Rosenthal JA, etal., J Biol Chem 1999 Nov 26;274(48):33959-65.

Additional References at PubMed

PMID:9303539	PMID:9813051	PMID:10470851	PMID:12353027	PMID:12477932	PMID:12750376	PMID:14702039	PMID:15231748	PMID:15324660	PMID:15345747	PMID:16344560	PMID:17081983
PMID:18199683	PMID:19285159	PMID:20379614	PMID:20709745	PMID:21163940	PMID:21873635	PMID:22174317	PMID:22558309	PMID:25468996	PMID:25871009	PMID:26186194	PMID:26496610
PMID:26638075	PMID:27173435	PMID:27578003	PMID:28190767	PMID:28388416	PMID:28514442	PMID:28717225	PMID:29395067	PMID:29467281	PMID:29509190	PMID:29568061	PMID:30194290
PMID:30639242	PMID:31280863	PMID:31527615	PMID:31699778	PMID:31732153	PMID:31871319	PMID:32296183	PMID:33845483	PMID:33961781	PMID:34079125	PMID:34369648	PMID:34709727
PMID:35271311	PMID:35384245	PMID:35831314	PMID:36215168	PMID:36931259	PMID:36949045

Genomics

Comparative Map Data

EPN2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	19,237,366 - 19,336,715 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	19,215,615 - 19,336,715 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	19,140,679 - 19,240,028 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	19,081,283 - 19,180,621 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	19,081,302 - 19,180,620	NCBI
Celera	17	16,598,294 - 16,653,109 (+)	NCBI		Celera
Cytogenetic Map	17	p11.2	NCBI
HuRef	17	18,520,401 - 18,619,785 (+)	NCBI		HuRef
CHM1_1	17	19,149,312 - 19,248,777 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	19,185,353 - 19,284,762 (+)	NCBI		T2T-CHM13v2.0

Epn2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	61,406,709 - 61,470,560 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	61,408,075 - 61,470,513 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	61,515,883 - 61,579,717 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	61,517,249 - 61,579,687 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	61,330,751 - 61,393,153 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	61,947,228 - 62,009,626 (-)	NCBI		MGSCv36	mm8
MGSCv36	11	61,333,444 - 61,395,846 (-)	NCBI		MGSCv36	mm8
Cytogenetic Map	11	B2	NCBI
cM Map	11	37.96	NCBI

Epn2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	46,697,238 - 46,759,128 (-)	NCBI		GRCr8
mRatBN7.2	10	46,197,785 - 46,259,673 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	46,197,785 - 46,259,642 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	50,901,225 - 50,963,084 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	50,391,750 - 50,453,612 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	45,895,176 - 45,957,037 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	47,795,496 - 47,857,373 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	47,795,524 - 47,857,326 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	47,567,990 - 47,630,470 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	47,677,508 - 47,739,193 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	47,692,479 - 47,719,900 (-)	NCBI
Celera	10	45,449,426 - 45,511,171 (-)	NCBI		Celera
Cytogenetic Map	10	q22	NCBI

Epn2
(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_004955467	419,289 - 506,092 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955467	419,342 - 505,909 (-)	NCBI	ChiLan1.0	ChiLan1.0

EPN2
(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	19	54,247,862 - 54,344,928 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	59,060,262 - 59,157,329 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	31,777,430 - 31,874,469 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	36,942,381 - 37,038,509 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	36,942,381 - 37,038,509 (-)	Ensembl	panpan1.1		panPan2

EPN2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	40,871,157 - 40,951,772 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	40,872,006 - 40,919,416 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	41,013,217 - 41,097,323 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	40,979,692 - 41,063,821 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	40,978,782 - 41,063,833 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	40,948,008 - 41,032,083 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	40,894,780 - 40,978,874 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	41,086,888 - 41,170,974 (-)	NCBI		UU_Cfam_GSD_1.0

Epn2
(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_024405602	60,082,613 - 60,169,915 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936881	419,682 - 504,650 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936881	417,348 - 504,650 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

EPN2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	60,171,920 - 60,234,278 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	60,171,916 - 60,249,539 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

EPN2
(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	16	17,820,896 - 17,919,374 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	17,864,423 - 17,920,426 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666059	2,931,751 - 3,030,618 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Epn2
(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_004624849	5,577,679 - 5,633,008 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624849	5,520,279 - 5,632,152 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in EPN2
24 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	copy number loss	See cases [RCV000050602]	Chr17:15898032..20620700 [GRCh38] Chr17:15801346..20524013 [GRCh37] Chr17:15742071..20464605 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	copy number gain	See cases [RCV000050622]	Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	copy number loss	See cases [RCV000050624]	Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	copy number gain	See cases [RCV000051852]	Chr17:15259164..20925299 [GRCh38] Chr17:15162481..20828612 [GRCh37] Chr17:15103206..20769204 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3	copy number gain	See cases [RCV000051853]	Chr17:15897832..20620841 [GRCh38] Chr17:15801146..20524154 [GRCh37] Chr17:15741871..20464746 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	copy number gain	See cases [RCV000051876]	Chr17:16836827..20340442 [GRCh38] Chr17:16740141..20243755 [GRCh37] Chr17:16680866..20184347 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	copy number gain	See cases [RCV000051855]	Chr17:16656168..20390725 [GRCh38] Chr17:16559482..20294038 [GRCh37] Chr17:16500207..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	copy number gain	See cases [RCV000051877]	Chr17:16836827..20504849 [GRCh38] Chr17:16740141..20408162 [GRCh37] Chr17:16680866..20348754 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	copy number gain	See cases [RCV000051879]	Chr17:16919369..20289856 [GRCh38] Chr17:16822683..20193169 [GRCh37] Chr17:16763408..20133761 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	copy number gain	See cases [RCV000051858]	Chr17:16692462..20390725 [GRCh38] Chr17:16595776..20294038 [GRCh37] Chr17:16536501..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	copy number gain	See cases [RCV000051860]	Chr17:16713514..20582527 [GRCh38] Chr17:16616828..20485840 [GRCh37] Chr17:16557553..20426432 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	copy number gain	See cases [RCV000051871]	Chr17:16713515..20340442 [GRCh38] Chr17:16616829..20243755 [GRCh37] Chr17:16557554..20184347 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	copy number gain	See cases [RCV000051849]	Chr17:15234685..20620700 [GRCh38] Chr17:15138002..20524013 [GRCh37] Chr17:15078727..20464605 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	copy number gain	See cases [RCV000051872]	Chr17:16760817..20429770 [GRCh38] Chr17:16664131..20333083 [GRCh37] Chr17:16604856..20273675 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	copy number gain	See cases [RCV000051873]	Chr17:16760818..20504849 [GRCh38] Chr17:16664132..20408162 [GRCh37] Chr17:16604857..20348754 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1	copy number loss	See cases [RCV000054330]	Chr17:16060129..20620841 [GRCh38] Chr17:15963443..20524154 [GRCh37] Chr17:15904168..20464746 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	copy number loss	See cases [RCV000054337]	Chr17:16760818..20390725 [GRCh38] Chr17:16664132..20294038 [GRCh37] Chr17:16604857..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	copy number gain	See cases [RCV000054008]	Chr17:18828089..20467764 [GRCh38] Chr17:18731402..20371077 [GRCh37] Chr17:18672127..20311669 [NCBI36] Chr17:17p11.2	uncertain significance
GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	copy number gain	See cases [RCV000054009]	Chr17:19070690..21619442 [GRCh38] Chr17:18974003..21522709 [GRCh37] Chr17:18914728..21463302 [NCBI36] Chr17:17p11.2	uncertain significance
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	copy number loss	See cases [RCV000054355]	Chr17:16836827..20465067 [GRCh38] Chr17:16740141..20368380 [GRCh37] Chr17:16680866..20308972 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	copy number loss	See cases [RCV000054356]	Chr17:16858444..20340442 [GRCh38] Chr17:16761758..20243755 [GRCh37] Chr17:16702483..20184347 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:19239860-21530183)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]\|See cases [RCV000054010]	Chr17:19239860..21530183 [GRCh38] Chr17:19143173..21433444 [GRCh37] Chr17:19083766..21374037 [NCBI36] Chr17:17p11.2	uncertain significance
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	copy number loss	See cases [RCV000054357]	Chr17:16858444..20465067 [GRCh38] Chr17:16761758..20368380 [GRCh37] Chr17:16702483..20308972 [NCBI36] Chr17:17p11.2	pathogenic
NM_014964.4(EPN2):c.9T>C (p.Thr3=)	single nucleotide variant	Malignant melanoma [RCV000063163]	Chr17:19283128 [GRCh38] Chr17:19186441 [GRCh37] Chr17:19127034 [NCBI36] Chr17:17p11.2	not provided
NM_001102664.1(EPN2):c.-90+11281T>C	single nucleotide variant	Lung cancer [RCV000100377]	Chr17:19248812 [GRCh38] Chr17:19152125 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	copy number loss	See cases [RCV000133724]	Chr17:18872617..20316151 [GRCh38] Chr17:18775930..20219464 [GRCh37] Chr17:18716655..20160056 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	copy number gain	See cases [RCV000133695]	Chr17:16879232..20316151 [GRCh38] Chr17:16782546..20219464 [GRCh37] Chr17:16723271..20160056 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	copy number gain	See cases [RCV000134467]	Chr17:16854250..20492169 [GRCh38] Chr17:16757564..20395482 [GRCh37] Chr17:16698289..20336074 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	copy number loss	See cases [RCV000135874]	Chr17:17331511..20022528 [GRCh38] Chr17:17234825..19925841 [GRCh37] Chr17:17175550..19866433 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	copy number loss	See cases [RCV000135996]	Chr17:16879233..20390697 [GRCh38] Chr17:16782547..20294010 [GRCh37] Chr17:16723272..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	copy number gain	See cases [RCV000135997]	Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	copy number loss	See cases [RCV000135998]	Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	copy number loss	See cases [RCV000136906]	Chr17:16734588..20390725 [GRCh38] Chr17:16637902..20294038 [GRCh37] Chr17:16578627..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	copy number loss	See cases [RCV000136951]	Chr17:16734588..20316151 [GRCh38] Chr17:16637902..20219464 [GRCh37] Chr17:16578627..20160056 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	copy number loss	See cases [RCV000137991]	Chr17:18859289..20316151 [GRCh38] Chr17:18762602..20219464 [GRCh37] Chr17:18703327..20160056 [NCBI36] Chr17:17p11.2	likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	copy number loss	See cases [RCV000137974]	Chr17:16699816..20390725 [GRCh38] Chr17:16603130..20294038 [GRCh37] Chr17:16543855..20234630 [NCBI36] Chr17:17p11.2	pathogenic\|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	copy number gain	See cases [RCV000138255]	Chr17:16854250..20492214 [GRCh38] Chr17:16757564..20395527 [GRCh37] Chr17:16698289..20336119 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	copy number loss	See cases [RCV000139239]	Chr17:16989087..20370816 [GRCh38] Chr17:16892401..20274129 [GRCh37] Chr17:16833126..20214721 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	copy number gain	See cases [RCV000139188]	Chr17:16854250..20560048 [GRCh38] Chr17:16757564..20463361 [GRCh37] Chr17:16698289..20403953 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	copy number gain	See cases [RCV000140217]	Chr17:16699694..20530646 [GRCh38] Chr17:16603008..20433959 [GRCh37] Chr17:16543733..20374551 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	copy number loss	See cases [RCV000139510]	Chr17:15883037..20620700 [GRCh38] Chr17:15786351..20524013 [GRCh37] Chr17:15727076..20464605 [NCBI36] Chr17:17p12-11.2	pathogenic\|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	copy number loss	See cases [RCV000139558]	Chr17:16656162..20390697 [GRCh38] Chr17:16559476..20294010 [GRCh37] Chr17:16500201..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	copy number loss	See cases [RCV000141105]	Chr17:17018951..20148630 [GRCh38] Chr17:16922265..20051943 [GRCh37] Chr17:16862990..19992535 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	copy number gain	See cases [RCV000140852]	Chr17:16699816..20492214 [GRCh38] Chr17:16603130..20395527 [GRCh37] Chr17:16543855..20336119 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	copy number loss	See cases [RCV000141975]	Chr17:16838097..20436415 [GRCh38] Chr17:16741411..20339728 [GRCh37] Chr17:16682136..20280320 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	copy number gain	See cases [RCV000142075]	Chr17:16858500..20570955 [GRCh38] Chr17:16761814..20474268 [GRCh37] Chr17:16702539..20414860 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	copy number gain	See cases [RCV000143381]	Chr17:16696708..20492860 [GRCh38] Chr17:16600022..20396173 [GRCh37] Chr17:16540747..20336765 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	copy number gain	See cases [RCV000143417]	Chr17:16718415..20546210 [GRCh38] Chr17:16621729..20449523 [GRCh37] Chr17:16562454..20390115 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	copy number loss	See cases [RCV000143210]	Chr17:16858500..20559337 [GRCh38] Chr17:16761814..20462650 [GRCh37] Chr17:16702539..20403242 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	copy number loss	See cases [RCV000143177]	Chr17:15883037..20658018 [GRCh38] Chr17:15786351..20561331 [GRCh37] Chr17:15727076..20501923 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	copy number loss	See cases [RCV000143181]	Chr17:16699816..20428292 [GRCh38] Chr17:16603130..20331605 [GRCh37] Chr17:16543855..20272197 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	copy number gain	See cases [RCV000143715]	Chr17:16426633..20998588 [GRCh38] Chr17:16329947..20901901 [GRCh37] Chr17:16270672..20842493 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	copy number loss	See cases [RCV000143650]	Chr17:15850859..20649235 [GRCh38] Chr17:15754173..20552548 [GRCh37] Chr17:15694898..20493140 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	copy number loss	See cases [RCV000143596]	Chr17:16853120..20436482 [GRCh38] Chr17:16756434..20339795 [GRCh37] Chr17:16697159..20280387 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	copy number loss	See cases [RCV000143485]	Chr17:15729893..20510251 [GRCh38] Chr17:15633207..20413564 [GRCh37] Chr17:15573932..20354156 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	copy number loss	See cases [RCV000449069]	Chr17:16603130..20261191 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	copy number gain	See cases [RCV000240104]	Chr17:15767020..20261250 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	copy number loss	See cases [RCV000239910]	Chr17:17053390..19893098 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	copy number loss	See cases [RCV000240274]	Chr17:16654302..20261250 [GRCh37] Chr17:17p11.2	pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3	duplication	Potocki-Lupski syndrome [RCV000591005]	Chr17:16757111..20219651 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3	copy number gain	See cases [RCV000449384]	Chr17:16740141..20261191 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1	copy number loss	See cases [RCV000447345]	Chr17:10771948..21510992 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	copy number loss	See cases [RCV000446498]	Chr17:15745315..20261191 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1	copy number loss	See cases [RCV000446300]	Chr17:16761814..20304295 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	copy number loss	See cases [RCV000446465]	Chr17:16637902..20261250 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3	copy number gain	See cases [RCV000445753]	Chr17:16741771..20430791 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1	copy number loss	See cases [RCV000448145]	Chr17:16757564..20261191 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:18465463-19149350)x1	copy number loss	See cases [RCV000448508]	Chr17:18465463..19149350 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1	copy number loss	See cases [RCV000448636]	Chr17:16741411..20304154 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1	copy number loss	See cases [RCV000448404]	Chr17:16741411..20449523 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1	copy number loss	See cases [RCV000447955]	Chr17:16741411..20408379 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1	copy number loss	See cases [RCV000448752]	Chr17:16761814..20462723 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3	copy number gain	See cases [RCV000448097]	Chr17:16772264..20433502 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	copy number loss	See cases [RCV000510506]	Chr17:16745600..20396173 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	copy number loss	See cases [RCV000510254]	Chr17:17200426..21900910 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	copy number gain	See cases [RCV000510267]	Chr17:16761814..20339795 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	copy number loss	See cases [RCV000511412]	Chr17:16727264..20413564 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	copy number loss	See cases [RCV000511915]	Chr17:16772264..20297091 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	copy number loss	See cases [RCV000511460]	Chr17:16741411..20410218 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	copy number gain	See cases [RCV000511433]	Chr17:16738161..20338182 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	copy number loss	See cases [RCV000511111]	Chr17:16727264..20395889 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1	copy number loss	See cases [RCV000510808]	Chr17:19144143..20231379 [GRCh37] Chr17:17p11.2	likely pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	copy number gain	See cases [RCV000511042]	Chr17:16651292..20437532 [GRCh37] Chr17:17p11.2	pathogenic
NM_014964.5(EPN2):c.1786G>A (p.Ala596Thr)	single nucleotide variant	Inborn genetic diseases [RCV003239434]	Chr17:19334114 [GRCh38] Chr17:19237427 [GRCh37] Chr17:17p11.2	likely benign
GRCh37/hg19 17p11.2(chr17:16842163-20217777)	copy number gain	Delayed speech and language development [RCV000626511]	Chr17:16842163..20217777 [GRCh37] Chr17:17p11.2	pathogenic
NM_014964.5(EPN2):c.1067C>T (p.Pro356Leu)	single nucleotide variant	Inborn genetic diseases [RCV003293850]	Chr17:19313199 [GRCh38] Chr17:19216512 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.22C>T (p.Arg8Trp)	single nucleotide variant	Inborn genetic diseases [RCV003272676]	Chr17:19283141 [GRCh38] Chr17:19186454 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:16782546-20294038)	copy number loss	Sleep abnormality [RCV000626510]	Chr17:16782546..20294038 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	copy number gain	See cases [RCV000512356]	Chr17:16591260..20473937 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	copy number loss	See cases [RCV000512446]	Chr17:16741411..20489023 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	copy number gain	See cases [RCV000512434]	Chr17:19144143..20231379 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	copy number loss	not provided [RCV000683897]	Chr17:16727264..20310241 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	copy number gain	not provided [RCV000683900]	Chr17:16761814..20292897 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	copy number loss	not provided [RCV000683901]	Chr17:16999980..20298979 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	copy number loss	not provided [RCV000683902]	Chr17:17021607..20015978 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	copy number gain	not provided [RCV000683907]	Chr17:18743223..20246715 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:18800138-19238772)x3	copy number gain	not provided [RCV000683908]	Chr17:18800138..19238772 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	copy number loss	not provided [RCV000683898]	Chr17:16741411..20430791 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1	copy number loss	not provided [RCV000739423]	Chr17:16768248..20391959 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:18596126-19180190)x3	copy number gain	not provided [RCV000739427]	Chr17:18596126..19180190 [GRCh37] Chr17:17p11.2	benign
GRCh37/hg19 17p11.2(chr17:18761109-19204432)x3	copy number gain	not provided [RCV000739429]	Chr17:18761109..19204432 [GRCh37] Chr17:17p11.2	benign
GRCh37/hg19 17p11.2(chr17:18815547-19143510)x3	copy number gain	not provided [RCV000739431]	Chr17:18815547..19143510 [GRCh37] Chr17:17p11.2	benign
Single allele	duplication	Autism [RCV000754201]	Chr17:16770855..20422847 [GRCh38] Chr17:17p11.2	pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del	deletion	Autism [RCV000754202]	Chr17:16770855..20585863 [GRCh38] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1	copy number loss	not provided [RCV000739417]	Chr17:16660721..20417975 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:19100258-19180190)x3	copy number gain	not provided [RCV000751953]	Chr17:19100258..19180190 [GRCh37] Chr17:17p11.2	benign
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3	copy number gain	not provided [RCV000751941]	Chr17:15796140..20331131 [GRCh37] Chr17:17p12-11.2	pathogenic
NM_014964.5(EPN2):c.1121G>A (p.Ser374Asn)	single nucleotide variant	Inborn genetic diseases [RCV003246287]	Chr17:19313253 [GRCh38] Chr17:19216566 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:16842991-20217316)	copy number loss	Smith-Magenis syndrome [RCV000767738]	Chr17:16842991..20217316 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	copy number gain	not provided [RCV000848946]	Chr17:19144143..20231379 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:16664739-20370783)	copy number gain	Potocki-Lupski syndrome [RCV003236713]	Chr17:16664739..20370783 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	copy number loss	not provided [RCV001259295]	Chr17:18746987..20231379 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	copy number gain	not provided [RCV001259290]	Chr17:16761814..20330062 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	copy number loss	not provided [RCV001259291]	Chr17:16763370..20395611 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:18509439-19143976)x3	copy number gain	not provided [RCV001259293]	Chr17:18509439..19143976 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:16651292-20286898)	copy number loss	Smith-Magenis syndrome [RCV002280651]	Chr17:16651292..20286898 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17145361-20137943)	copy number loss	Smith-Magenis syndrome [RCV001352632]	Chr17:17145361..20137943 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369)	copy number gain	Potocki-Lupski syndrome [RCV001352635]	Chr17:16601603..20063369 [GRCh37] Chr17:17p11.2	pathogenic
Single allele	complex	PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690]	Chr17:14876984..22124952 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	copy number gain	Potocki-Lupski syndrome [RCV001801179]	Chr17:16829153..20361747 [GRCh37] Chr17:17p11.2	pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)del	deletion	Immunodeficiency, common variable, 2 [RCV002049406]\|Joubert syndrome [RCV002047402]	Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	copy number loss	not provided [RCV002211424]	Chr17:16664739..20217378 [GRCh37] Chr17:17p11.2	pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)dup	duplication	Familial aplasia of the vermis [RCV003116613]\|Immunodeficiency, common variable, 2 [RCV003116614]	Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:17151140-20187953)	copy number loss	Smith-Magenis syndrome [RCV002280652]	Chr17:17151140..20187953 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	copy number gain	See cases [RCV002292216]	Chr17:16736709..20339460 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	copy number gain	not provided [RCV002474502]	Chr17:17103571..19331028 [GRCh37] Chr17:17p11.2	pathogenic
NM_014964.5(EPN2):c.1133C>T (p.Pro378Leu)	single nucleotide variant	Inborn genetic diseases [RCV002684827]	Chr17:19313265 [GRCh38] Chr17:19216578 [GRCh37] Chr17:17p11.2	uncertain significance
NC_000017.11:g.(?_18856298)_(20402192_?)del	deletion	Meckel syndrome, type 9 [RCV000024099]	Chr17:18856298..20402192 [GRCh38] Chr17:17p11.2	pathogenic
NM_014964.5(EPN2):c.596C>T (p.Ser199Leu)	single nucleotide variant	Inborn genetic diseases [RCV002865253]	Chr17:19285620 [GRCh38] Chr17:19188933 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.1283C>T (p.Ala428Val)	single nucleotide variant	Inborn genetic diseases [RCV002691602]	Chr17:19328846 [GRCh38] Chr17:19232159 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.304G>A (p.Ala102Thr)	single nucleotide variant	Inborn genetic diseases [RCV002924121]	Chr17:19283423 [GRCh38] Chr17:19186736 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.11C>T (p.Ser4Leu)	single nucleotide variant	Inborn genetic diseases [RCV002782596]	Chr17:19283130 [GRCh38] Chr17:19186443 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.1765G>A (p.Ala589Thr)	single nucleotide variant	Inborn genetic diseases [RCV002809663]	Chr17:19334093 [GRCh38] Chr17:19237406 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.5C>G (p.Thr2Arg)	single nucleotide variant	Inborn genetic diseases [RCV002748176]	Chr17:19283124 [GRCh38] Chr17:19186437 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.354C>G (p.Asp118Glu)	single nucleotide variant	Inborn genetic diseases [RCV002677193]	Chr17:19283473 [GRCh38] Chr17:19186786 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	copy number loss	not provided [RCV003222939]	Chr17:17116969..20217378 [GRCh37] Chr17:17p11.2	pathogenic
NM_014964.5(EPN2):c.1540G>T (p.Gly514Cys)	single nucleotide variant	Inborn genetic diseases [RCV003208458]	Chr17:19331981 [GRCh38] Chr17:19235294 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.1763T>C (p.Met588Thr)	single nucleotide variant	Inborn genetic diseases [RCV003192031]	Chr17:19334091 [GRCh38] Chr17:19237404 [GRCh37] Chr17:17p11.2	uncertain significance
NM_014964.5(EPN2):c.115C>A (p.Leu39Met)	single nucleotide variant	Inborn genetic diseases [RCV003351931]	Chr17:19283234 [GRCh38] Chr17:19186547 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	copy number loss	not provided [RCV003483314]	Chr17:15694772..20582794 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	copy number loss	not provided [RCV003483315]	Chr17:16651293..20450566 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	copy number gain	not provided [RCV003485147]	Chr17:18614422..22227823 [GRCh37] Chr17:17p11.2-11.1	uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	copy number loss	not specified [RCV003987246]	Chr17:15759103..20564268 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	copy number gain	not specified [RCV003987215]	Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	9096
Count of miRNA genes:	1320
Interacting mature miRNAs:	1741
Transcripts:	ENST00000314728, ENST00000347697, ENST00000395618, ENST00000395620, ENST00000395626, ENST00000395628, ENST00000399085, ENST00000399086, ENST00000441293, ENST00000494192, ENST00000495155, ENST00000571254, ENST00000572627, ENST00000575595, ENST00000577195, ENST00000577244, ENST00000577692, ENST00000580579, ENST00000581024, ENST00000582015, ENST00000582234, ENST00000582659, ENST00000582969, ENST00000583197, ENST00000584150, ENST00000584633, ENST00000584707, ENST00000584954, ENST00000585097
Prediction methods:	Microtar, Miranda, Pita, 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.

Markers in Region

RH76524

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	19,145,201 - 19,145,438	UniSTS	GRCh37
Build 36	17	19,085,794 - 19,086,031	RGD	NCBI36
Celera	17	16,557,823 - 16,558,060	RGD
Cytogenetic Map	17	p11.2	UniSTS
HuRef	17	18,524,912 - 18,525,149	UniSTS

EPN2__7600

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	19,237,554 - 19,238,465	UniSTS	GRCh37
Build 36	17	19,178,147 - 19,179,058	RGD	NCBI36
Celera	17	16,650,635 - 16,651,546	RGD
HuRef	17	18,617,311 - 18,618,222	UniSTS

D17S1768

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	19,238,281 - 19,238,398	UniSTS	GRCh37
Build 36	17	19,178,874 - 19,178,991	RGD	NCBI36
Celera	17	16,651,362 - 16,651,479	RGD
Cytogenetic Map	17	p11.2	UniSTS
HuRef	17	18,618,038 - 18,618,155	UniSTS
GeneMap99-GB4 RH Map	17	108.89	UniSTS

STS-W72824

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	19,239,811 - 19,239,985	UniSTS	GRCh37
Build 36	17	19,180,404 - 19,180,578	RGD	NCBI36
Celera	17	16,652,892 - 16,653,066	RGD
Cytogenetic Map	17	p11.2	UniSTS
HuRef	17	18,619,568 - 18,619,742	UniSTS
GeneMap99-GB4 RH Map	17	108.89	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

1679

1717

935

123

146

3458

1072

3488

146

1351

1435

103

942

2011

Low

754

1063

788

499

1561

432

897

1121

229

272

173

262

777

Below cutoff

207

230

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001102664	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_148921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB028988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC106017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC124066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF062084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF062085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK024115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC051793	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC070036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC093972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC093974	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA220261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC316524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000314728 ⟹ ENSP00000320543

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,366 - 19,336,715 (+)	Ensembl

RefSeq Acc Id:

ENST00000347697 ⟹ ENSP00000261495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,377 - 19,336,715 (+)	Ensembl

RefSeq Acc Id:

ENST00000395618 ⟹ ENSP00000378980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,396 - 19,335,174 (+)	Ensembl

RefSeq Acc Id:

ENST00000395620 ⟹ ENSP00000378982

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,281,955 - 19,335,194 (+)	Ensembl

RefSeq Acc Id:

ENST00000395626 ⟹ ENSP00000378988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,282,979 - 19,336,715 (+)	Ensembl

RefSeq Acc Id:

ENST00000395628 ⟹ ENSP00000378990

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,397 - 19,329,636 (+)	Ensembl

RefSeq Acc Id:

ENST00000441293

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,088 - 19,274,388 (+)	Ensembl

RefSeq Acc Id:

ENST00000494192 ⟹ ENSP00000460193

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,416 - 19,332,068 (+)	Ensembl

RefSeq Acc Id:

ENST00000495155

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,281,955 - 19,313,734 (+)	Ensembl

RefSeq Acc Id:

ENST00000571254 ⟹ ENSP00000459542

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,283,047 - 19,334,330 (+)	Ensembl

RefSeq Acc Id:

ENST00000572627

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,309,974 - 19,330,676 (+)	Ensembl

RefSeq Acc Id:

ENST00000575595 ⟹ ENSP00000459678

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,416 - 19,334,490 (+)	Ensembl

RefSeq Acc Id:

ENST00000577195 ⟹ ENSP00000462392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,257,920 - 19,283,306 (+)	Ensembl

RefSeq Acc Id:

ENST00000577244

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,429 - 19,283,005 (+)	Ensembl

RefSeq Acc Id:

ENST00000577692 ⟹ ENSP00000463627

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,396 - 19,283,404 (+)	Ensembl

RefSeq Acc Id:

ENST00000580579 ⟹ ENSP00000463769

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,396 - 19,328,762 (+)	Ensembl

RefSeq Acc Id:

ENST00000581024 ⟹ ENSP00000462958

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,419 - 19,283,233 (+)	Ensembl

RefSeq Acc Id:

ENST00000582015 ⟹ ENSP00000462465

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,215,615 - 19,283,217 (+)	Ensembl

RefSeq Acc Id:

ENST00000582234

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,416 - 19,283,091 (+)	Ensembl

RefSeq Acc Id:

ENST00000582659

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,396 - 19,274,318 (+)	Ensembl

RefSeq Acc Id:

ENST00000582969

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,497 - 19,283,100 (+)	Ensembl

RefSeq Acc Id:

ENST00000583197 ⟹ ENSP00000463141

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,396 - 19,283,185 (+)	Ensembl

RefSeq Acc Id:

ENST00000584150 ⟹ ENSP00000462606

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,248,394 - 19,283,180 (+)	Ensembl

RefSeq Acc Id:

ENST00000584633 ⟹ ENSP00000462426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,237,076 - 19,283,346 (+)	Ensembl

RefSeq Acc Id:

ENST00000584707

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,221,448 - 19,283,238 (+)	Ensembl

RefSeq Acc Id:

ENST00000584954

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,329,082 - 19,329,616 (+)	Ensembl

RefSeq Acc Id:

ENST00000585097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	19,312,912 - 19,331,973 (+)	Ensembl

RefSeq Acc Id:

NM_001102664 ⟹ NP_001096134

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	19,237,366 - 19,336,715 (+)	NCBI
GRCh37	17	19,140,690 - 19,240,028 (+)	RGD
Build 36	17	19,081,283 - 19,180,621 (+)	NCBI Archive
Celera	17	16,598,294 - 16,653,109 (+)	RGD
HuRef	17	18,520,401 - 18,619,785 (+)	ENTREZGENE
CHM1_1	17	19,149,312 - 19,248,777 (+)	NCBI
T2T-CHM13v2.0	17	19,185,353 - 19,284,762 (+)	NCBI

Sequence:

show sequence

ACGCGTCCGGCGCGCCCCCTCCCGGCCGCCATGTTGGCTGGTGTGTGGGTGTCAAACTGAGCCA
GACGCGGCGGTGGCGGCGGCTCCGCGGGCTACGGTCGCTCCCGCCTCTCGAGCGCTGCCGGTGG
CCGCAGCGGCGCACCCACGCCGGCCCGGAGGAGCAGAGCCACCTCCCCGCGAGTGTCCTCCGAG
CTGGAGCAAGCCCGGCCCCAGACTAGTGGAGAAGAGGAGCTTCAGCTGCAGCTGGCACTTGCCA
TGAGCAGAGAAGTGGCTGAGCAGGAAGAACGCCTCAGGCGGGGTGATGACCTCAGATTACAGAT
GGCCCTGGAAGAAAGCCGAAGGGACACAGTTAAAATTCCAAAAAAGAAAGAGCATGGCTCTCTC
CCACAGCAGACTACGCTGTTGGATTTAATGGATGCTCTCCCCAGCTCGGGCCCCGCGGCCCAGA
AAGCAGAGCCCTGGGGCCCGTCAGCCTCCACTAACCAGACCAACCCCTGGGGCGGGCCAGCGGC
TCCTGCGAGTACTTCAGACCCCTGGCCATCGTTTGGTACCAAGCCAGCTGCCTCCATTGACCCA
TGGGGGGTGCCCACTGGAGCCACCGTACAATCTGTCCCCAAGAACTCGGACCCCTGGGCAGCTT
CACAGCAGCCTGCCTCCAGTGCTGGGAAAAGAGCTTCTGACGCGTGGGGCGCAGTCTCCACCAC
CAAGCCCGTGTCTGTCTCTGGGTCCTTTGAGCTCTTCAGTAATCTGAATGGTACAATTAAAGAT
GACTTTTCTGAATTTGACAACCTTCGGACTTCAAAAAAAACAGCCGAATCTGTGACCTCTCTGC
CATCCCAAAACAATGGAACTACCAGCCCTGACCCCTTTGAGTCTCAACCCCTGACTGTCGCCTC
AAGCAAGCCCAGCAGTGCCCGGAAAACACCTGAGTCCTTCCTGGGCCCCAACGCGGCCCTGGTG
AACCTGGACTCACTGGTGACCAGGCCTGCCCCACCAGCCCAGTCCCTCAACCCTTTCCTGGCAC
CAGGTGCTCCCGCCACCTCGGCCCCTGTTAACCCTTTCCAGGTGAACCAGCCCCAGCCGCTGAC
ACTGAACCAGCTTCGGGGGAGCCCAGTCCTGGGGACCAGCACATCCTTTGGGCCTGGCCCAGGA
GTGGAGTCCATGGCTGTGGCCTCGATGACCTCCGCGGCCCCACAGCCAGCTCTGGGGGCCACTG
GTTCCTCTCTGACACCACTGGGCCCTGCAATGATGAACATGGTGGGCAGTGTGGGTATACCCCC
ATCAGCAGCCCAGGCCACTGGCACAACCAACCCTTTCCTTCTCTAGTGCCTGGGCCTGGGACCC
ACCCAGAGCACCTGTGCTGGAGGATGCCGAGCAGGGACTCTCGTCTGTGGGACGGGATCCAAGA
GTTTGGGGATTAGGGGTATTAGGGCTTTTCAGCTCCAGCTTCCTGATGAAAGGGCTGTCTTTAC
AGCCCCAACCCTCAGACCCTCGCCTTCCAAGGCAGGCCCCTCAGCCTGGCCTGCTCTCACCACC
TCCTCCAAAGCACTGAGGTCCTGGCAGGGCTCCTCTGAGGCCTTGGACGAGGACGTGGAGTCAT
CAGTGTTGCCCTTGCCCCTAACCTCAGCCCGAGGGTCTCCAGGATGTTGCCTGGCCCAGGACTT
GGGACAGTGGCCTTGTCTTTGTCCTCCCCACCCCCCAGCCCTAGGGACACCCCAGGCAGTCCTG
GGTGTGGACACGATGAAGCACCGGCTCCATAAGACACCTTTTGGGGAAGTGGTTGTGCATATTT
TATTTTTCTTTGACTCGTGTGAGTTCAAAGTAAACACCACCACCGTGGACAACTCTTGAATTAA
ATCCACTAGAGCGAGCTTTAAAACTAATCTGAGCATAACCCCCAACGTGGCTCTATGCTTGTGT
ACCTTTGCACATATTTTGTTTAGTACAGTTTCATATTTGAGTTTGCAGAATTATCTAATAGTCT
TTTTTTGGCTAATATTTTTATAACGTGGTTCTTATTTAACTGTCTAGTTTTGATAGAATTTACC
AGGTCTGGCTGAATGAAGATGTTGGCACGTGTCATTTTAGTGGTTTAAATCCTCTTATTTATGG
TTTTAACTCTAAGAAAATTTTAAAAGGAAGAGATGTTTGGATGACAAAAAAATGCCTTATTGAA
AAACTAAAGCAAATTCTTTATAGGAAGAAAATATGGGAATTTGATTACACATAGATGATGATGT
TTATTTAAAAAAAAAACAACAGCAACAAAAAATCCTAGCCTCCAGTTGCCTTTTCCTTTCTTTA
GCTCCTGTTTTTGGTGAATTACTAAACTGATTGACTTTCAGCCTTTTTGGCTAGATCCTGAGAG
GCTATTTTTCTTACGAATATACCAACATCCTGAAAGTTAAAGAAAAAAATCTAATGTATGAATG
TGACTCACCAATTTTTATCAACTAATTCCTTTTTTTTATTAAAGGCATGCAGGGATTAACAGGA
CTTCTGTTTACAATGGAAATCTGAAATGGAAGAAACATCTTTAACCTTGTGTGTCTGTGATCTC
CTCTGTCTTAATCCACGCTCAGGCTAAAGATGGGGATAATGTGGAAATGGCAGTTGTCCCGAGG
GCGTGGGGTGGGGGGTGCTTCTGTGCCCACGGGTCCCTGGGCAACAGTCCCTAGGCTAAGACAG
GGGTGGGGGGCTAAGGGACCAGGGCTGGCCCTGATCCACCTACCTGCTAACTCCAGATATTATT
TTTAAGTTGGAGACCTAAAAATAATTCTCTTGTATTTTGGAGATGAAGAAAAAAGTCATTCACC
TGGGAGGGATTTTTAACAAACATGCACTAATATTACCTCCCTCTTCCAAACTCCTACTGTCCTC
ACCTCACCCACCACTGTAAAAGTATTACGTCGTGCATTAAAGACCAGAAAAGACTTGCTTTTAC
CCAGGGAGGGGACATTCCCCCAATCCTGTGTCTGGGCAGCTTGCCTGGTGGATGTTTCTGGCCC
TTTTTCCACCATGGGAATTTCTCACCTCTAGCTCTAAGGGCAGCTGACCACCTGCCAGCCCCTC
TCTGGTTCCAGAAGATTACCCTTCGCACCGGCACAGGAGAGATCTTAAATGGTCTCTGGGCTGC
TGGGACATGCAGGCTCTGAGTGGGGACTGCACCCACTCATGCTGTTCCTGAGGCCGCCCTCTCC
AGTCCCAGGAGCCGTGTCTAGAGTTCCTGACCAGCCACCTTCTGCCAGAACTGCAGGCCTGCGG
CTGGGTCTTAGGCTCCCGCTGCCATTTGGGTAAGCCGGTGGCTGGTCTCGTCTGCCGGGGGAAG
GGTGGGGAGGTGCAATGGGATGGGAGGCAGGATGCTTGCCCAGAAAGGTGCTTTCCTTCAGACG
GTGCAGGGCCTGGGCCAGCCTTACAGGTCAGTAGACTAGACTCGACTACTTGGGGTCAGTGATT
CTTTTGTAACGAGTCTTTCATGATGTGACTTTGAGGCCCCAACATGACAGCCACTGGGCCACCG
GGACCCAAGAAGACAGCCCCCTGCCCCATCTTCTGGCACAGGCCATCCCGAGTGCATGTCCCTG
TTGCCCACTGCACTGATCATGAAGCCACCGGCCACTGCCACGCATGTTGCACCTGTGCCATCGT
GCTCCCTCCTGATGGGCACCGTGGTGGAGGAAGTCACCCAGCTGTTTCTCAGTCCCAGAGGCCG
GTGGCTGGTTTTGAACTTGTGTTGACTGTTGATACTTATTTACTGTATAAATATAATTTATCAT
TTGTACCATGA

hide sequence

RefSeq Acc Id:

NM_014964 ⟹ NP_055779

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	19,237,366 - 19,336,715 (+)	NCBI
GRCh37	17	19,140,690 - 19,240,028 (+)	RGD
Build 36	17	19,081,283 - 19,180,621 (+)	NCBI Archive
Celera	17	16,598,294 - 16,653,109 (+)	RGD
HuRef	17	18,520,401 - 18,619,785 (+)	ENTREZGENE
CHM1_1	17	19,149,312 - 19,248,777 (+)	NCBI
T2T-CHM13v2.0	17	19,185,353 - 19,284,762 (+)	NCBI

Sequence:

show sequence

ACGCGTCCGGCGCGCCCCCTCCCGGCCGCCATGTTGGCTGGTGTGTGGGTGTCAAACTGAGCCA
GACGCGGCGGTGGCGGCGGCTCCGCGGGCTACGGTCGCTCCCGCCTCTCGAGCGCTGCCGGTGG
CCGCAGCGGCGCACCCACGCCGGCCCGGAGGAGCAGAGTGTTCATTTCTGTGTCGGGCACAGTG
CTAAGTGCTGGGTGCTCACTGGTGATGAGGCAGATGAAGGTTACCAAACTTGTGGACAGGAGCC
TCATATCAGAGACGTGGACCTCACTGTAGCCTGGTCATGGCTTCCAGCTTTTCGAATCTGAGGC
TCCAAAGGAGGAAATGACCATTCAGGGATCTTACTCCAGCTTGATTACGGAGACTGAACCTTCA
TAGGGTGCGCACTTACCAAGGACAGGAAGGTTTCTCTGTTTGAAGGGCTTTAAACTTATAACAA
AGAAAATAAAAATGACGACTTCGTCTATCAGACGGCAGATGAAAAACATCGTGAACAATTACTC
AGAGGCAGAAATCAAAGTCCGGGAAGCCACCTCCAATGACCCGTGGGGCCCGTCCAGTTCTCTG
ATGACCGAGATTGCCGACCTGACCTACAACGTGGTGGCCTTCTCGGAGATCATGAGCATGGTGT
GGAAGCGGCTGAATGACCATGGCAAGAACTGGCGGCATGTGTACAAGGCGCTGACCCTGCTGGA
CTACCTCATCAAGACAGGCTCCGAACGTGTGGCCCAGCAGTGCCGGGAGAACATCTTCGCCATC
CAGACCCTGAAGGACTTCCAGTACATTGACCGAGATGGCAAGGACCAGGGCATCAATGTGCGTG
AGAAGTCAAAGCAACTGGTGGCTCTCCTCAAGGACGAGGAACGGTTGAAGGCTGAGAGGGCCCA
GGCTCTCAAAACCAAAGAGCGCATGGCCCAGGTTGCCACTGGCATGGGCAGCAACCAGATCACC
TTTGGGCGAGGCTCCAGCCAGCCCAACCTCTCCACCAGCCACTCGGAGCAGGAGTATGGCAAGG
CCGGGGGCTCCCCGGCCTCCTACCATGGCTCGCCTGAGGCCTCGCTGTGCCCCCAGCACCGCAC
AGGGGCCCCGCTGGGTCAGAGTGAGGAGCTGCAGCCACTGAGCCAGCGCCACCCCTTCCTGCCG
CACCTGGGGCTGGCCTCCCGCCCAAATGGCGACTGGTCCCAGCCCTGCCTCACTTGTGACCGCG
CAGCCCGAGCCACCTCCCCGCGAGTGTCCTCCGAGCTGGAGCAAGCCCGGCCCCAGACTAGTGG
AGAAGAGGAGCTTCAGCTGCAGCTGGCACTTGCCATGAGCAGAGAAGTGGCTGAGCAGGAAGAA
CGCCTCAGGCGGGGTGATGACCTCAGATTACAGATGGCCCTGGAAGAAAGCCGAAGGGACACAG
TTAAAATTCCAAAAAAGAAAGAGCATGGCTCTCTCCCACAGCAGACTACGCTGTTGGATTTAAT
GGATGCTCTCCCCAGCTCGGGCCCCGCGGCCCAGAAAGCAGAGCCCTGGGGCCCGTCAGCCTCC
ACTAACCAGACCAACCCCTGGGGCGGGCCAGCGGCTCCTGCGAGTACTTCAGACCCCTGGCCAT
CGTTTGGTACCAAGCCAGCTGCCTCCATTGACCCATGGGGGGTGCCCACTGGAGCCACCGTACA
ATCTGTCCCCAAGAACTCGGACCCCTGGGCAGCTTCACAGCAGCCTGCCTCCAGTGCTGGGAAA
AGAGCTTCTGACGCGTGGGGCGCAGTCTCCACCACCAAGCCCGTGTCTGTCTCTGGGTCCTTTG
AGCTCTTCAGTAATCTGAATGGTACAATTAAAGATGACTTTTCTGAATTTGACAACCTTCGGAC
TTCAAAAAAAACAGCCGAATCTGTGACCTCTCTGCCATCCCAAAACAATGGAACTACCAGCCCT
GACCCCTTTGAGTCTCAACCCCTGACTGTCGCCTCAAGCAAGCCCAGCAGTGCCCGGAAAACAC
CTGAGTCCTTCCTGGGCCCCAACGCGGCCCTGGTGAACCTGGACTCACTGGTGACCAGGCCTGC
CCCACCAGCCCAGTCCCTCAACCCTTTCCTGGCACCAGGTGCTCCCGCCACCTCGGCCCCTGTT
AACCCTTTCCAGGTGAACCAGCCCCAGCCGCTGACACTGAACCAGCTTCGGGGGAGCCCAGTCC
TGGGGACCAGCACATCCTTTGGGCCTGGCCCAGGAGTGGAGTCCATGGCTGTGGCCTCGATGAC
CTCCGCGGCCCCACAGCCAGCTCTGGGGGCCACTGGTTCCTCTCTGACACCACTGGGCCCTGCA
ATGATGAACATGGTGGGCAGTGTGGGTATACCCCCATCAGCAGCCCAGGCCACTGGCACAACCA
ACCCTTTCCTTCTCTAGTGCCTGGGCCTGGGACCCACCCAGAGCACCTGTGCTGGAGGATGCCG
AGCAGGGACTCTCGTCTGTGGGACGGGATCCAAGAGTTTGGGGATTAGGGGTATTAGGGCTTTT
CAGCTCCAGCTTCCTGATGAAAGGGCTGTCTTTACAGCCCCAACCCTCAGACCCTCGCCTTCCA
AGGCAGGCCCCTCAGCCTGGCCTGCTCTCACCACCTCCTCCAAAGCACTGAGGTCCTGGCAGGG
CTCCTCTGAGGCCTTGGACGAGGACGTGGAGTCATCAGTGTTGCCCTTGCCCCTAACCTCAGCC
CGAGGGTCTCCAGGATGTTGCCTGGCCCAGGACTTGGGACAGTGGCCTTGTCTTTGTCCTCCCC
ACCCCCCAGCCCTAGGGACACCCCAGGCAGTCCTGGGTGTGGACACGATGAAGCACCGGCTCCA
TAAGACACCTTTTGGGGAAGTGGTTGTGCATATTTTATTTTTCTTTGACTCGTGTGAGTTCAAA
GTAAACACCACCACCGTGGACAACTCTTGAATTAAATCCACTAGAGCGAGCTTTAAAACTAATC
TGAGCATAACCCCCAACGTGGCTCTATGCTTGTGTACCTTTGCACATATTTTGTTTAGTACAGT
TTCATATTTGAGTTTGCAGAATTATCTAATAGTCTTTTTTTGGCTAATATTTTTATAACGTGGT
TCTTATTTAACTGTCTAGTTTTGATAGAATTTACCAGGTCTGGCTGAATGAAGATGTTGGCACG
TGTCATTTTAGTGGTTTAAATCCTCTTATTTATGGTTTTAACTCTAAGAAAATTTTAAAAGGAA
GAGATGTTTGGATGACAAAAAAATGCCTTATTGAAAAACTAAAGCAAATTCTTTATAGGAAGAA
AATATGGGAATTTGATTACACATAGATGATGATGTTTATTTAAAAAAAAAACAACAGCAACAAA
AAATCCTAGCCTCCAGTTGCCTTTTCCTTTCTTTAGCTCCTGTTTTTGGTGAATTACTAAACTG
ATTGACTTTCAGCCTTTTTGGCTAGATCCTGAGAGGCTATTTTTCTTACGAATATACCAACATC
CTGAAAGTTAAAGAAAAAAATCTAATGTATGAATGTGACTCACCAATTTTTATCAACTAATTCC
TTTTTTTTATTAAAGGCATGCAGGGATTAACAGGACTTCTGTTTACAATGGAAATCTGAAATGG
AAGAAACATCTTTAACCTTGTGTGTCTGTGATCTCCTCTGTCTTAATCCACGCTCAGGCTAAAG
ATGGGGATAATGTGGAAATGGCAGTTGTCCCGAGGGCGTGGGGTGGGGGGTGCTTCTGTGCCCA
CGGGTCCCTGGGCAACAGTCCCTAGGCTAAGACAGGGGTGGGGGGCTAAGGGACCAGGGCTGGC
CCTGATCCACCTACCTGCTAACTCCAGATATTATTTTTAAGTTGGAGACCTAAAAATAATTCTC
TTGTATTTTGGAGATGAAGAAAAAAGTCATTCACCTGGGAGGGATTTTTAACAAACATGCACTA
ATATTACCTCCCTCTTCCAAACTCCTACTGTCCTCACCTCACCCACCACTGTAAAAGTATTACG
TCGTGCATTAAAGACCAGAAAAGACTTGCTTTTACCCAGGGAGGGGACATTCCCCCAATCCTGT
GTCTGGGCAGCTTGCCTGGTGGATGTTTCTGGCCCTTTTTCCACCATGGGAATTTCTCACCTCT
AGCTCTAAGGGCAGCTGACCACCTGCCAGCCCCTCTCTGGTTCCAGAAGATTACCCTTCGCACC
GGCACAGGAGAGATCTTAAATGGTCTCTGGGCTGCTGGGACATGCAGGCTCTGAGTGGGGACTG
CACCCACTCATGCTGTTCCTGAGGCCGCCCTCTCCAGTCCCAGGAGCCGTGTCTAGAGTTCCTG
ACCAGCCACCTTCTGCCAGAACTGCAGGCCTGCGGCTGGGTCTTAGGCTCCCGCTGCCATTTGG
GTAAGCCGGTGGCTGGTCTCGTCTGCCGGGGGAAGGGTGGGGAGGTGCAATGGGATGGGAGGCA
GGATGCTTGCCCAGAAAGGTGCTTTCCTTCAGACGGTGCAGGGCCTGGGCCAGCCTTACAGGTC
AGTAGACTAGACTCGACTACTTGGGGTCAGTGATTCTTTTGTAACGAGTCTTTCATGATGTGAC
TTTGAGGCCCCAACATGACAGCCACTGGGCCACCGGGACCCAAGAAGACAGCCCCCTGCCCCAT
CTTCTGGCACAGGCCATCCCGAGTGCATGTCCCTGTTGCCCACTGCACTGATCATGAAGCCACC
GGCCACTGCCACGCATGTTGCACCTGTGCCATCGTGCTCCCTCCTGATGGGCACCGTGGTGGAG
GAAGTCACCCAGCTGTTTCTCAGTCCCAGAGGCCGGTGGCTGGTTTTGAACTTGTGTTGACTGT
TGATACTTATTTACTGTATAAATATAATTTATCATTTGTACCATGA

hide sequence

RefSeq Acc Id:

NM_148921 ⟹ NP_683723

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	19,237,366 - 19,336,715 (+)	NCBI
GRCh37	17	19,140,690 - 19,240,028 (+)	RGD
Build 36	17	19,081,283 - 19,180,621 (+)	NCBI Archive
Celera	17	16,598,294 - 16,653,109 (+)	RGD
HuRef	17	18,520,401 - 18,619,785 (+)	ENTREZGENE
CHM1_1	17	19,149,312 - 19,248,777 (+)	NCBI
T2T-CHM13v2.0	17	19,185,353 - 19,284,762 (+)	NCBI

Sequence:

show sequence

ACGCGTCCGGCGCGCCCCCTCCCGGCCGCCATGTTGGCTGGTGTGTGGGTGTCAAACTGAGCCA
GACGCGGCGGTGGCGGCGGCTCCGCGGGCTACGGTCGCTCCCGCCTCTCGAGCGCTGCCGGTGG
CCGCAGCGGCGCACCCACGCCGGCCCGGAGGAGCAGAGTGTTCATTTCTGTGTCGGGCACAGTG
CTAAGTGCTGGGTGCTCACTGGTGATGAGGCAGATGAAGGTTACCAAACTTGTGGACAGGAGCC
TCATATCAGAGACGTGGACCTCACTGTAGCCTGGTCATGGCTTCCAGCTTTTCGAATCTGAGGC
TCCAAAGGAGGAAATGACCATTCAGGGATCTTACTCCAGCTTGATTACGGAGACTGAACCTTCA
TAGGGTGCGCACTTACCAAGGACAGGAAGGTTTCTCTGTTTGAAGGGCTTTAAACTTATAACAA
AGAAAATAAAAATGACGACTTCGTCTATCAGACGGCAGATGAAAAACATCGTGAACAATTACTC
AGAGGCAGAAATCAAAGTCCGGGAAGCCACCTCCAATGACCCGTGGGGCCCGTCCAGTTCTCTG
ATGACCGAGATTGCCGACCTGACCTACAACGTGGTGGCCTTCTCGGAGATCATGAGCATGGTGT
GGAAGCGGCTGAATGACCATGGCAAGAACTGGCGGCATGTGTACAAGGCGCTGACCCTGCTGGA
CTACCTCATCAAGACAGGCTCCGAACGTGTGGCCCAGCAGTGCCGGGAGAACATCTTCGCCATC
CAGACCCTGAAGGACTTCCAGTACATTGACCGAGATGGCAAGGACCAGGGCATCAATGTGCGTG
AGAAGTCAAAGCAACTGGTGGCTCTCCTCAAGGACGAGGAACGGTTGAAGGCTGAGAGGGCCCA
GGCTCTCAAAACCAAAGAGCGCATGGCCCAGGTTGCCACTGGCATGGGCAGCAACCAGATCACC
TTTGGGCGAGGCTCCAGCCAGCCCAACCTCTCCACCAGCCACTCGGAGCAGGAGTATGGCAAGG
CCGGGGGCTCCCCGGCCTCCTACCATGGCTCCACCTCCCCGCGAGTGTCCTCCGAGCTGGAGCA
AGCCCGGCCCCAGACTAGTGGAGAAGAGGAGCTTCAGCTGCAGCTGGCACTTGCCATGAGCAGA
GAAGTGGCTGAGCAGGAAGAACGCCTCAGGCGGGGTGATGACCTCAGATTACAGATGGCCCTGG
AAGAAAGCCGAAGGGACACAGTTAAAATTCCAAAAAAGAAAGAGCATGGCTCTCTCCCACAGCA
GACTACGCTGTTGGATTTAATGGATGCTCTCCCCAGCTCGGGCCCCGCGGCCCAGAAAGCAGAG
CCCTGGGGCCCGTCAGCCTCCACTAACCAGACCAACCCCTGGGGCGGGCCAGCGGCTCCTGCGA
GTACTTCAGACCCCTGGCCATCGTTTGGTACCAAGCCAGCTGCCTCCATTGACCCATGGGGGGT
GCCCACTGGAGCCACCGTACAATCTGTCCCCAAGAACTCGGACCCCTGGGCAGCTTCACAGCAG
CCTGCCTCCAGTGCTGGGAAAAGAGCTTCTGACGCGTGGGGCGCAGTCTCCACCACCAAGCCCG
TGTCTGTCTCTGGGTCCTTTGAGCTCTTCAGTAATCTGAATGGTACAATTAAAGATGACTTTTC
TGAATTTGACAACCTTCGGACTTCAAAAAAAACAGCCGAATCTGTGACCTCTCTGCCATCCCAA
AACAATGGAACTACCAGCCCTGACCCCTTTGAGTCTCAACCCCTGACTGTCGCCTCAAGCAAGC
CCAGCAGTGCCCGGAAAACACCTGAGTCCTTCCTGGGCCCCAACGCGGCCCTGGTGAACCTGGA
CTCACTGGTGACCAGGCCTGCCCCACCAGCCCAGTCCCTCAACCCTTTCCTGGCACCAGGTGCT
CCCGCCACCTCGGCCCCTGTTAACCCTTTCCAGGTGAACCAGCCCCAGCCGCTGACACTGAACC
AGCTTCGGGGGAGCCCAGTCCTGGGGACCAGCACATCCTTTGGGCCTGGCCCAGGAGTGGAGTC
CATGGCTGTGGCCTCGATGACCTCCGCGGCCCCACAGCCAGCTCTGGGGGCCACTGGTTCCTCT
CTGACACCACTGGGCCCTGCAATGATGAACATGGTGGGCAGTGTGGGTATACCCCCATCAGCAG
CCCAGGCCACTGGCACAACCAACCCTTTCCTTCTCTAGTGCCTGGGCCTGGGACCCACCCAGAG
CACCTGTGCTGGAGGATGCCGAGCAGGGACTCTCGTCTGTGGGACGGGATCCAAGAGTTTGGGG
ATTAGGGGTATTAGGGCTTTTCAGCTCCAGCTTCCTGATGAAAGGGCTGTCTTTACAGCCCCAA
CCCTCAGACCCTCGCCTTCCAAGGCAGGCCCCTCAGCCTGGCCTGCTCTCACCACCTCCTCCAA
AGCACTGAGGTCCTGGCAGGGCTCCTCTGAGGCCTTGGACGAGGACGTGGAGTCATCAGTGTTG
CCCTTGCCCCTAACCTCAGCCCGAGGGTCTCCAGGATGTTGCCTGGCCCAGGACTTGGGACAGT
GGCCTTGTCTTTGTCCTCCCCACCCCCCAGCCCTAGGGACACCCCAGGCAGTCCTGGGTGTGGA
CACGATGAAGCACCGGCTCCATAAGACACCTTTTGGGGAAGTGGTTGTGCATATTTTATTTTTC
TTTGACTCGTGTGAGTTCAAAGTAAACACCACCACCGTGGACAACTCTTGAATTAAATCCACTA
GAGCGAGCTTTAAAACTAATCTGAGCATAACCCCCAACGTGGCTCTATGCTTGTGTACCTTTGC
ACATATTTTGTTTAGTACAGTTTCATATTTGAGTTTGCAGAATTATCTAATAGTCTTTTTTTGG
CTAATATTTTTATAACGTGGTTCTTATTTAACTGTCTAGTTTTGATAGAATTTACCAGGTCTGG
CTGAATGAAGATGTTGGCACGTGTCATTTTAGTGGTTTAAATCCTCTTATTTATGGTTTTAACT
CTAAGAAAATTTTAAAAGGAAGAGATGTTTGGATGACAAAAAAATGCCTTATTGAAAAACTAAA
GCAAATTCTTTATAGGAAGAAAATATGGGAATTTGATTACACATAGATGATGATGTTTATTTAA
AAAAAAAACAACAGCAACAAAAAATCCTAGCCTCCAGTTGCCTTTTCCTTTCTTTAGCTCCTGT
TTTTGGTGAATTACTAAACTGATTGACTTTCAGCCTTTTTGGCTAGATCCTGAGAGGCTATTTT
TCTTACGAATATACCAACATCCTGAAAGTTAAAGAAAAAAATCTAATGTATGAATGTGACTCAC
CAATTTTTATCAACTAATTCCTTTTTTTTATTAAAGGCATGCAGGGATTAACAGGACTTCTGTT
TACAATGGAAATCTGAAATGGAAGAAACATCTTTAACCTTGTGTGTCTGTGATCTCCTCTGTCT
TAATCCACGCTCAGGCTAAAGATGGGGATAATGTGGAAATGGCAGTTGTCCCGAGGGCGTGGGG
TGGGGGGTGCTTCTGTGCCCACGGGTCCCTGGGCAACAGTCCCTAGGCTAAGACAGGGGTGGGG
GGCTAAGGGACCAGGGCTGGCCCTGATCCACCTACCTGCTAACTCCAGATATTATTTTTAAGTT
GGAGACCTAAAAATAATTCTCTTGTATTTTGGAGATGAAGAAAAAAGTCATTCACCTGGGAGGG
ATTTTTAACAAACATGCACTAATATTACCTCCCTCTTCCAAACTCCTACTGTCCTCACCTCACC
CACCACTGTAAAAGTATTACGTCGTGCATTAAAGACCAGAAAAGACTTGCTTTTACCCAGGGAG
GGGACATTCCCCCAATCCTGTGTCTGGGCAGCTTGCCTGGTGGATGTTTCTGGCCCTTTTTCCA
CCATGGGAATTTCTCACCTCTAGCTCTAAGGGCAGCTGACCACCTGCCAGCCCCTCTCTGGTTC
CAGAAGATTACCCTTCGCACCGGCACAGGAGAGATCTTAAATGGTCTCTGGGCTGCTGGGACAT
GCAGGCTCTGAGTGGGGACTGCACCCACTCATGCTGTTCCTGAGGCCGCCCTCTCCAGTCCCAG
GAGCCGTGTCTAGAGTTCCTGACCAGCCACCTTCTGCCAGAACTGCAGGCCTGCGGCTGGGTCT
TAGGCTCCCGCTGCCATTTGGGTAAGCCGGTGGCTGGTCTCGTCTGCCGGGGGAAGGGTGGGGA
GGTGCAATGGGATGGGAGGCAGGATGCTTGCCCAGAAAGGTGCTTTCCTTCAGACGGTGCAGGG
CCTGGGCCAGCCTTACAGGTCAGTAGACTAGACTCGACTACTTGGGGTCAGTGATTCTTTTGTA
ACGAGTCTTTCATGATGTGACTTTGAGGCCCCAACATGACAGCCACTGGGCCACCGGGACCCAA
GAAGACAGCCCCCTGCCCCATCTTCTGGCACAGGCCATCCCGAGTGCATGTCCCTGTTGCCCAC
TGCACTGATCATGAAGCCACCGGCCACTGCCACGCATGTTGCACCTGTGCCATCGTGCTCCCTC
CTGATGGGCACCGTGGTGGAGGAAGTCACCCAGCTGTTTCTCAGTCCCAGAGGCCGGTGGCTGG
TTTTGAACTTGTGTTGACTGTTGATACTTATTTACTGTATAAATATAATTTATCATTTGTACCA
TGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001096134	(Get FASTA)	NCBI Sequence Viewer
	NP_055779	(Get FASTA)	NCBI Sequence Viewer
	NP_683723	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC78608	(Get FASTA)	NCBI Sequence Viewer
	AAC78609	(Get FASTA)	NCBI Sequence Viewer
	AAH70036	(Get FASTA)	NCBI Sequence Viewer
	AAH93972	(Get FASTA)	NCBI Sequence Viewer
	AAH93974	(Get FASTA)	NCBI Sequence Viewer
	AAI43265	(Get FASTA)	NCBI Sequence Viewer
	BAA83017	(Get FASTA)	NCBI Sequence Viewer
	BAB14831	(Get FASTA)	NCBI Sequence Viewer
	BAG50925	(Get FASTA)	NCBI Sequence Viewer
	BAG51000	(Get FASTA)	NCBI Sequence Viewer
	BAG52540	(Get FASTA)	NCBI Sequence Viewer
	BAH12141	(Get FASTA)	NCBI Sequence Viewer
	BAH12703	(Get FASTA)	NCBI Sequence Viewer
	EAW50875	(Get FASTA)	NCBI Sequence Viewer
	EAW50876	(Get FASTA)	NCBI Sequence Viewer
	EAW50877	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000261495
	ENSP00000261495.3
	ENSP00000320543
	ENSP00000320543.5
	ENSP00000378980
	ENSP00000378980.3
	ENSP00000378982.2
	ENSP00000378988.1
	ENSP00000378990.2
	ENSP00000459542.1
	ENSP00000459678.1
	ENSP00000460193.1
	ENSP00000462392.1
	ENSP00000462426.1
	ENSP00000462465.1
	ENSP00000462606.1
	ENSP00000462958.1
	ENSP00000463141.1
	ENSP00000463627.1
	ENSP00000463769.1
GenBank Protein	O95208	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055779 ⟸ NM_014964
- Peptide Label:	isoform b
- UniProtKB:	Q9H7Z2 (UniProtKB/Swiss-Prot), Q52LD0 (UniProtKB/Swiss-Prot), O95207 (UniProtKB/Swiss-Prot), E9PBC2 (UniProtKB/Swiss-Prot), B3KRX8 (UniProtKB/Swiss-Prot), A8MTV8 (UniProtKB/Swiss-Prot), Q9UPT7 (UniProtKB/Swiss-Prot), O95208 (UniProtKB/Swiss-Prot), I3L2B2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTTSSIRRQMKNIVNNYSEAEIKVREATSNDPWGPSSSLMTEIADLTYNVVAFSEIMSMVWKRL NDHGKNWRHVYKALTLLDYLIKTGSERVAQQCRENIFAIQTLKDFQYIDRDGKDQGINVREKSK QLVALLKDEERLKAERAQALKTKERMAQVATGMGSNQITFGRGSSQPNLSTSHSEQEYGKAGGS PASYHGSPEASLCPQHRTGAPLGQSEELQPLSQRHPFLPHLGLASRPNGDWSQPCLTCDRAARA TSPRVSSELEQARPQTSGEEELQLQLALAMSREVAEQEERLRRGDDLRLQMALEESRRDTVKIP KKKEHGSLPQQTTLLDLMDALPSSGPAAQKAEPWGPSASTNQTNPWGGPAAPASTSDPWPSFGT KPAASIDPWGVPTGATVQSVPKNSDPWAASQQPASSAGKRASDAWGAVSTTKPVSVSGSFELFS NLNGTIKDDFSEFDNLRTSKKTAESVTSLPSQNNGTTSPDPFESQPLTVASSKPSSARKTPESF LGPNAALVNLDSLVTRPAPPAQSLNPFLAPGAPATSAPVNPFQVNQPQPLTLNQLRGSPVLGTS TSFGPGPGVESMAVASMTSAAPQPALGATGSSLTPLGPAMMNMVGSVGIPPSAAQATGTTNPFL L hide sequence

RefSeq Acc Id:	NP_683723 ⟸ NM_148921
- Peptide Label:	isoform a
- UniProtKB:	I3L2B2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTTSSIRRQMKNIVNNYSEAEIKVREATSNDPWGPSSSLMTEIADLTYNVVAFSEIMSMVWKRL NDHGKNWRHVYKALTLLDYLIKTGSERVAQQCRENIFAIQTLKDFQYIDRDGKDQGINVREKSK QLVALLKDEERLKAERAQALKTKERMAQVATGMGSNQITFGRGSSQPNLSTSHSEQEYGKAGGS PASYHGSTSPRVSSELEQARPQTSGEEELQLQLALAMSREVAEQEERLRRGDDLRLQMALEESR RDTVKIPKKKEHGSLPQQTTLLDLMDALPSSGPAAQKAEPWGPSASTNQTNPWGGPAAPASTSD PWPSFGTKPAASIDPWGVPTGATVQSVPKNSDPWAASQQPASSAGKRASDAWGAVSTTKPVSVS GSFELFSNLNGTIKDDFSEFDNLRTSKKTAESVTSLPSQNNGTTSPDPFESQPLTVASSKPSSA RKTPESFLGPNAALVNLDSLVTRPAPPAQSLNPFLAPGAPATSAPVNPFQVNQPQPLTLNQLRG SPVLGTSTSFGPGPGVESMAVASMTSAAPQPALGATGSSLTPLGPAMMNMVGSVGIPPSAAQAT GTTNPFLL hide sequence

RefSeq Acc Id:	NP_001096134 ⟸ NM_001102664
- Peptide Label:	isoform c
- UniProtKB:	I3L2H1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSREVAEQEERLRRGDDLRLQMALEESRRDTVKIPKKKEHGSLPQQTTLLDLMDALPSSGPAAQ KAEPWGPSASTNQTNPWGGPAAPASTSDPWPSFGTKPAASIDPWGVPTGATVQSVPKNSDPWAA SQQPASSAGKRASDAWGAVSTTKPVSVSGSFELFSNLNGTIKDDFSEFDNLRTSKKTAESVTSL PSQNNGTTSPDPFESQPLTVASSKPSSARKTPESFLGPNAALVNLDSLVTRPAPPAQSLNPFLA PGAPATSAPVNPFQVNQPQPLTLNQLRGSPVLGTSTSFGPGPGVESMAVASMTSAAPQPALGAT GSSLTPLGPAMMNMVGSVGIPPSAAQATGTTNPFLL hide sequence

RefSeq Acc Id:

ENSP00000463769 ⟸ ENST00000580579

RefSeq Acc Id:

ENSP00000462958 ⟸ ENST00000581024

RefSeq Acc Id:

ENSP00000462465 ⟸ ENST00000582015

RefSeq Acc Id:

ENSP00000463141 ⟸ ENST00000583197

RefSeq Acc Id:

ENSP00000261495 ⟸ ENST00000347697

RefSeq Acc Id:

ENSP00000462606 ⟸ ENST00000584150

RefSeq Acc Id:

ENSP00000462426 ⟸ ENST00000584633

RefSeq Acc Id:

ENSP00000459542 ⟸ ENST00000571254

RefSeq Acc Id:

ENSP00000460193 ⟸ ENST00000494192

RefSeq Acc Id:

ENSP00000459678 ⟸ ENST00000575595

RefSeq Acc Id:

ENSP00000462392 ⟸ ENST00000577195

RefSeq Acc Id:

ENSP00000463627 ⟸ ENST00000577692

RefSeq Acc Id:

ENSP00000320543 ⟸ ENST00000314728

RefSeq Acc Id:

ENSP00000378980 ⟸ ENST00000395618

RefSeq Acc Id:

ENSP00000378990 ⟸ ENST00000395628

RefSeq Acc Id:

ENSP00000378988 ⟸ ENST00000395626

RefSeq Acc Id:

ENSP00000378982 ⟸ ENST00000395620

Protein Domains

ENTH UIM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O95208-F1-model_v2	AlphaFold	O95208	1-641	view protein structure

Promoters

RGD ID:

6793988

Promoter ID:

HG_KWN:25347

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

ENST00000395623, ENST00000395628, NM_001102664, NM_014964, NM_148921, UC002GVC.2, UC010CQL.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	19,081,106 - 19,081,606 (+)	MPROMDB

RGD ID:

7234251

Promoter ID:

EPDNEW_H22871

Type:

initiation region

Name:

EPN2_1

Description:

epsin 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22869

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	19,237,398 - 19,237,458	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18639	AgrOrtholog
COSMIC	EPN2	COSMIC
Ensembl Genes	ENSG00000072134	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000314728	ENTREZGENE
	ENST00000314728.10	UniProtKB/Swiss-Prot
	ENST00000347697	ENTREZGENE
	ENST00000347697.6	UniProtKB/Swiss-Prot
	ENST00000395618	ENTREZGENE
	ENST00000395618.7	UniProtKB/Swiss-Prot
	ENST00000395620.6	UniProtKB/Swiss-Prot
	ENST00000395626.5	UniProtKB/TrEMBL
	ENST00000395628.6	UniProtKB/TrEMBL
	ENST00000494192.6	UniProtKB/TrEMBL
	ENST00000571254.1	UniProtKB/TrEMBL
	ENST00000575595.5	UniProtKB/TrEMBL
	ENST00000577195.5	UniProtKB/TrEMBL
	ENST00000577692.5	UniProtKB/TrEMBL
	ENST00000580579.5	UniProtKB/TrEMBL
	ENST00000581024.5	UniProtKB/TrEMBL
	ENST00000582015.5	UniProtKB/TrEMBL
	ENST00000583197.5	UniProtKB/TrEMBL
	ENST00000584150.5	UniProtKB/TrEMBL
	ENST00000584633.1	UniProtKB/TrEMBL
Gene3D-CATH	1.25.40.90	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000072134	GTEx
HGNC ID	HGNC:18639	ENTREZGENE
Human Proteome Map	EPN2	Human Proteome Map
InterPro	ENTH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENTH_VHS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UIM_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:22905	UniProtKB/Swiss-Prot
NCBI Gene	22905	ENTREZGENE
OMIM	607263	OMIM
PANTHER	EPSIN/ENT-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12276:SF50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ENTH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38615	PharmGKB
PROSITE	ENTH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UIM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ENTH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UIM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF48464	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8MTV8	ENTREZGENE
	B3KRX8	ENTREZGENE
	E9PBC1_HUMAN	UniProtKB/TrEMBL
	E9PBC2	ENTREZGENE
	EPN2_HUMAN	UniProtKB/Swiss-Prot
	F6PQP6_HUMAN	UniProtKB/TrEMBL
	I3L2B2	ENTREZGENE, UniProtKB/TrEMBL
	I3L2H1	ENTREZGENE, UniProtKB/TrEMBL
	I3L356_HUMAN	UniProtKB/TrEMBL
	J3KSA6_HUMAN	UniProtKB/TrEMBL
	J3KSC7_HUMAN	UniProtKB/TrEMBL
	J3KSF8_HUMAN	UniProtKB/TrEMBL
	J3KSR0_HUMAN	UniProtKB/TrEMBL
	J3KTF6_HUMAN	UniProtKB/TrEMBL
	J3QKL8_HUMAN	UniProtKB/TrEMBL
	J3QLN2_HUMAN	UniProtKB/TrEMBL
	J3QQJ8_HUMAN	UniProtKB/TrEMBL
	O95207	ENTREZGENE
	O95208	ENTREZGENE
	Q52LD0	ENTREZGENE
	Q6NSL9_HUMAN	UniProtKB/TrEMBL
	Q9H7Z2	ENTREZGENE
	Q9UPT7	ENTREZGENE
UniProt Secondary	A8MTV8	UniProtKB/Swiss-Prot
	B3KRX8	UniProtKB/Swiss-Prot
	E9PBC2	UniProtKB/Swiss-Prot
	O95207	UniProtKB/Swiss-Prot
	Q52LD0	UniProtKB/Swiss-Prot
	Q9H7Z2	UniProtKB/Swiss-Prot
	Q9UPT7	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)

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar