NEIL2 (nei like DNA glycosylase 2)

Advanced Search (OLGA)

Gene: NEIL2 (nei like DNA glycosylase 2) Homo sapiens

Analyze

Symbol:

NEIL2

Name:

nei like DNA glycosylase 2

RGD ID:

1323805

HGNC Page

HGNC:18956

Description:

Predicted to enable DNA N-glycosylase activity and DNA-(apurinic or apyrimidinic site) endonuclease activity. Predicted to be involved in base-excision repair. Located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DNA glycosylase/AP lyase Neil2; DNA-(apurinic or apyrimidinic site) lyase Neil2; endonuclease 8-like 2; endonuclease VIII-like 2; FLJ31644; MGC2832; MGC4505; NEH2; nei endonuclease VIII-like 2; nei homolog 2; nei like 2; nei-like DNA glycosylase 2; nei-like protein 2; NEI2

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):	Neil2 (nei like 2 (E. coli))	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Neil2 (nei-like DNA glycosylase 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Neil2 (nei like DNA glycosylase 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NEIL2 (nei like DNA glycosylase 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	NEIL2 (nei like DNA glycosylase 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Neil2 (nei like DNA glycosylase 2)	NCBI	Ortholog
Sus scrofa (pig):	NEIL2 (nei like DNA glycosylase 2)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	NEIL2 (nei like DNA glycosylase 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Neil2 (nei like DNA glycosylase 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Dcp2 (decapping mRNA 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Neil2 (nei-like DNA glycosylase 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Neil2 (nei like 2 (E. coli))	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	neil2.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	neil2	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER)

Related Pseudogenes:

LOC100419161

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	11,769,710 - 11,787,345 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	11,769,639 - 11,787,345 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	11,627,219 - 11,644,854 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	11,664,666 - 11,682,263 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	11,664,665 - 11,682,263	NCBI
Celera	8	10,756,501 - 10,774,181 (+)	NCBI		Celera
Cytogenetic Map	8	p23.1	NCBI
HuRef	8	10,558,132 - 10,575,813 (+)	NCBI		HuRef
CHM1_1	8	11,692,655 - 11,710,334 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	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

Atrioventricular Septal Defect 4 (IAGP)

High Myopia (IAGP)

Neurodevelopmental Disorders (IAGP)

thoracic aortic aneurysm (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (EXP)

1,2-dichloroethane (ISO)

17beta-estradiol (EXP)

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

acetamide (ISO)

afimoxifene (EXP)

aniline (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

bromobenzene (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

cisplatin (EXP)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (EXP)

Dibutyl phosphate (EXP)

dichloroacetic acid (ISO)

diethylstilbestrol (EXP)

dorsomorphin (EXP)

furan (ISO)

genistein (EXP)

glyphosate (ISO)

iron atom (EXP)

iron(0) (EXP)

ketoconazole (EXP)

lead(0) (EXP)

mercury dibromide (EXP)

methotrexate (EXP)

paracetamol (ISO)

paraquat (ISO)

phenylmercury acetate (EXP)

potassium dichromate (ISO)

resveratrol (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

temozolomide (EXP)

thiram (EXP)

trichloroethene (ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

tris(2-butoxyethyl) phosphate (EXP)

uranium atom (EXP)

zearalenone (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

base-excision repair (IEA)

depyrimidination (TAS)

DNA repair (IEA)

Cellular Component

cytoplasm (IEA)

intracellular membrane-bounded organelle (IDA)

microtubule cytoskeleton (IEA)

mitotic spindle (IEA)

nucleoplasm (IDA,TAS)

nucleus (IBA,IEA)

Molecular Function

class I DNA-(apurinic or apyrimidinic site) endonuclease activity (IEA)

damaged DNA binding (IEA)

DNA binding (IEA)

DNA N-glycosylase activity (IEA,TAS)

DNA-(apurinic or apyrimidinic site) endonuclease activity (IEA)

hydrolase activity, acting on glycosyl bonds (IEA)

hydrolase activity, hydrolyzing N-glycosyl compounds (IEA)

lyase activity (IEA)

metal ion binding (IEA)

microtubule binding (IEA)

protein binding (IPI)

zinc ion binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

base excision repair pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

High myopia (IAGP)

Thoracic aortic aneurysm (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:11076863	PMID:11230166	PMID:12097317	PMID:12200441	PMID:12477932	PMID:12509226	PMID:14522990	PMID:14702039	PMID:14734554	PMID:15175427	PMID:15339932
PMID:15489334	PMID:15489336	PMID:16344560	PMID:16381901	PMID:16982218	PMID:17029639	PMID:17116430	PMID:17150535	PMID:17686777	PMID:18515411	PMID:18594018	PMID:18651651
PMID:19322201	PMID:20175991	PMID:20496165	PMID:20522537	PMID:20534351	PMID:20819778	PMID:21507922	PMID:21873635	PMID:22130663	PMID:22199273	PMID:22497777	PMID:23942779
PMID:24123395	PMID:24406253	PMID:24595271	PMID:24698998	PMID:25416956	PMID:25575562	PMID:26245904	PMID:26373042	PMID:26554163	PMID:26601495	PMID:26751644	PMID:26949251
PMID:27004405	PMID:27042257	PMID:28575236	PMID:29793947	PMID:29872149	PMID:30945288	PMID:31253066	PMID:31784740	PMID:32198476	PMID:32296183	PMID:32518160	PMID:32846144
PMID:33925271	PMID:33961781	PMID:34097065	PMID:34704236	PMID:34757057	PMID:35216329	PMID:37310399	PMID:37971311	PMID:38071370

Genomics

Comparative Map Data

NEIL2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	11,769,639 - 11,787,345 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	11,627,219 - 11,644,854 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	11,664,666 - 11,682,263 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	11,664,665 - 11,682,263	NCBI
Celera	8	10,756,501 - 10,774,181 (+)	NCBI		Celera
Cytogenetic Map	8	p23.1	NCBI
HuRef	8	10,558,132 - 10,575,813 (+)	NCBI		HuRef
CHM1_1	8	11,692,655 - 11,710,334 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI		T2T-CHM13v2.0

Neil2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	63,419,888 - 63,431,604 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	63,419,892 - 63,431,305 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	63,182,439 - 63,194,154 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	63,182,443 - 63,193,856 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	63,801,282 - 63,812,362 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	62,136,553 - 62,147,651 (-)	NCBI		MGSCv36	mm8
Celera	14	60,946,177 - 60,957,258 (-)	NCBI		Celera
Cytogenetic Map	14	D1	NCBI
cM Map	14	33.24	NCBI

Neil2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	41,620,650 - 41,631,551 (-)	NCBI		GRCr8
mRatBN7.2	15	37,444,676 - 37,454,863 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	37,445,381 - 37,454,863 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	39,298,146 - 39,307,624 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	40,448,953 - 40,458,431 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	38,906,012 - 38,915,494 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	46,371,780 - 46,382,730 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	46,372,485 - 46,381,967 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	50,136,574 - 50,147,493 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	42,458,573 - 42,468,055 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	42,474,275 - 42,483,755 (-)	NCBI
Celera	15	37,129,707 - 37,139,189 (-)	NCBI		Celera
Cytogenetic Map	15	p12	NCBI

Neil2
(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	53,037,743 - 53,048,723 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	53,037,008 - 53,044,996 (+)	NCBI	ChiLan1.0	ChiLan1.0

NEIL2
(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	28,236,906 - 28,254,781 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	4,263,264 - 4,281,014 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	7,415,540 - 7,433,270 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

NEIL2
(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	26,102,652 - 26,117,418 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	25	26,103,111 - 26,117,544 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	26,759,198 - 26,773,955 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	26,256,928 - 26,271,720 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	26,255,873 - 26,271,718 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	26,203,051 - 26,224,786 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	26,106,578 - 26,121,344 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	26,258,078 - 26,272,833 (-)	NCBI		UU_Cfam_GSD_1.0

Neil2
(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	5,122,224 - 5,144,963 (-)	NCBI		HiC_Itri_2

NEIL2
(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	14,945,135 - 14,966,291 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	14,945,129 - 14,966,305 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	16,133,865 - 16,154,327 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NEIL2
(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	7,319,721 - 7,338,683 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	7,319,585 - 7,338,602 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666052	35,096,846 - 35,116,542 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Neil2
(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	25,325,480 - 25,333,233 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624758	25,324,115 - 25,334,009 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NEIL2
49 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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(chr8:11112581-11948451)x3	copy number gain	See cases [RCV000050806]	Chr8:11112581..11948451 [GRCh38] Chr8:10970091..11805960 [GRCh37] Chr8:11007501..11843369 [NCBI36] Chr8:8p23.1	uncertain significance
GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	copy number loss	See cases [RCV000050658]	Chr8:8222339..12383643 [GRCh38] Chr8:8079861..12241152 [GRCh37] Chr8:8117271..12285523 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	copy number gain	See cases [RCV000051192]	Chr8:7411297..12182465 [GRCh38] Chr8:7268819..12039974 [GRCh37] Chr8:7256229..12077383 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
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(chr8:9970431-11984392)x3	copy number gain	See cases [RCV000052154]	Chr8:9970431..11984392 [GRCh38] Chr8:9827941..11841901 [GRCh37] Chr8:9865351..11879310 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	copy number loss	See cases [RCV000053154]	Chr8:7195664..12383643 [GRCh38] Chr8:7053186..12241152 [GRCh37] Chr8:7040596..12285523 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	copy number loss	See cases [RCV000053165]	Chr8:7234837..12514815 [GRCh38] Chr8:7092359..12372324 [GRCh37] Chr8:7079769..12416695 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1	copy number loss	See cases [RCV000053166]	Chr8:7411097..12610175 [GRCh38] Chr8:7268619..12467684 [GRCh37] Chr8:7256029..12512055 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	copy number loss	See cases [RCV000053167]	Chr8:7411297..11961807 [GRCh38] Chr8:7268819..11819316 [GRCh37] Chr8:7256229..11856725 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]\|See cases [RCV000053168]	Chr8:7411297..12546553 [GRCh38] Chr8:7268819..12404062 [GRCh37] Chr8:7256229..12448433 [NCBI36] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8079861-12039974)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169]	Chr8:8079861..12039974 [GRCh37] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3	copy number gain	See cases [RCV000053482]	Chr8:8222139..12383784 [GRCh38] Chr8:8079661..12241293 [GRCh37] Chr8:8117071..12285664 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:8272908-12182621)x3	copy number gain	See cases [RCV000053483]	Chr8:8272908..12182621 [GRCh38] Chr8:8130430..12040130 [GRCh37] Chr8:8167840..12077539 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	copy number gain	Abnormality of the heart [RCV000053484]\|See cases [RCV000053484]	Chr8:8273108..11948451 [GRCh38] Chr8:8130630..11805960 [GRCh37] Chr8:8p23.1	pathogenic\|uncertain significance
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 8p23.1(chr8:8336212-11984392)x3	copy number gain	See cases [RCV000053485]	Chr8:8336212..11984392 [GRCh38] Chr8:8193728..11841901 [GRCh37] Chr8:8231138..11879310 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	copy number loss	See cases [RCV000053486]	Chr8:8336212..11984392 [GRCh38] Chr8:8193728..11841901 [GRCh37] Chr8:8231138..11879310 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	copy number gain	See cases [RCV000053489]	Chr8:8336212..12021806 [GRCh38] Chr8:8193728..11879315 [GRCh37] Chr8:8231138..11916724 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
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 8p23.3-22(chr8:241530-17678697)x3	copy number gain	See cases [RCV000053603]	Chr8:241530..17678697 [GRCh38] Chr8:191530..17536206 [GRCh37] Chr8:181530..17580486 [NCBI36] Chr8:8p23.3-22	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 8p23.3-23.1(chr8:96310-12021806)x3	copy number gain	See cases [RCV000053600]	Chr8:96310..12021806 [GRCh38] Chr8:46310..11879315 [GRCh37] Chr8:36310..11916724 [NCBI36] Chr8:8p23.3-23.1	pathogenic
NM_001135746.1(NEIL2):c.761C>T (p.Ala254Val)	single nucleotide variant	Malignant melanoma [RCV000068113]	Chr8:11786035 [GRCh38] Chr8:11643544 [GRCh37] Chr8:11680953 [NCBI36] Chr8:8p23.1	not provided
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	copy number loss	See cases [RCV000053169]	Chr8:8222339..12182465 [GRCh38] Chr8:8079861..12039974 [GRCh37] Chr8:8117271..12077383 [NCBI36] Chr8:8p23.1	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	copy number gain	See cases [RCV000053484]	Chr8:8273108..11948451 [GRCh38] Chr8:8130630..11805960 [GRCh37] Chr8:8168040..11843369 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	copy number gain	See cases [RCV000134177]	Chr8:7834379..12182465 [GRCh38] Chr8:7691901..12039974 [GRCh37] Chr8:7729311..12077383 [NCBI36] Chr8:8p23.1	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	copy number loss	See cases [RCV000134092]	Chr8:8545843..11814470 [GRCh38] Chr8:8403353..11671979 [GRCh37] Chr8:8440763..11709388 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	copy number gain	See cases [RCV000134923]	Chr8:8273108..12546553 [GRCh38] Chr8:8130630..12404062 [GRCh37] Chr8:8168040..12448433 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	copy number loss	See cases [RCV000135749]	Chr8:8273108..11948451 [GRCh38] Chr8:8130630..11805960 [GRCh37] Chr8:8168040..11843369 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	copy number loss	See cases [RCV000135775]	Chr8:8273108..12383643 [GRCh38] Chr8:8130630..12241152 [GRCh37] Chr8:8168040..12285523 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	copy number gain	See cases [RCV000136522]	Chr8:7311968..12546553 [GRCh38] Chr8:7169490..12404062 [GRCh37] Chr8:7156900..12448433 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	copy number loss	See cases [RCV000136523]	Chr8:7311968..12546553 [GRCh38] Chr8:7169490..12404062 [GRCh37] Chr8:7156900..12448433 [NCBI36] Chr8:8p23.1	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(chr8:8253505-12610034)x1	copy number loss	See cases [RCV000137505]	Chr8:8253505..12610034 [GRCh38] Chr8:8111027..12467543 [GRCh37] Chr8:8148437..12511914 [NCBI36] Chr8:8p23.1	pathogenic\|likely benign
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 8p23.3-23.1(chr8:226452-12712987)x3	copy number gain	See cases [RCV000137984]	Chr8:226452..12712987 [GRCh38] Chr8:176452..12570496 [GRCh37] Chr8:166452..12614867 [NCBI36] Chr8:8p23.3-23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	copy number gain	See cases [RCV000137864]	Chr8:8222339..12050329 [GRCh38] Chr8:8079861..11907838 [GRCh37] Chr8:8117271..11945247 [NCBI36] Chr8:8p23.1	likely 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 8p23.3-12(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 8p23.1(chr8:7103661-12299882)x3	copy number gain	See cases [RCV000138529]	Chr8:7103661..12299882 [GRCh38] Chr8:6961183..12157391 [GRCh37] Chr8:6948593..12201760 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	copy number loss	See cases [RCV000138559]	Chr8:8253505..12003060 [GRCh38] Chr8:8111027..11860569 [GRCh37] Chr8:8148437..11897978 [NCBI36] Chr8:8p23.1	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(chr8:11773771-11821194)x1	copy number loss	See cases [RCV000140250]	Chr8:11773771..11821194 [GRCh38] Chr8:11631280..11678703 [GRCh37] Chr8:11668689..11716112 [NCBI36] Chr8:8p23.1	likely benign
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 8p23.3-22(chr8:226452-16280146)x3	copy number gain	See cases [RCV000141418]	Chr8:226452..16280146 [GRCh38] Chr8:176452..16137655 [GRCh37] Chr8:166452..16182026 [NCBI36] Chr8:8p23.3-22	pathogenic
GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	copy number gain	See cases [RCV000141378]	Chr8:11440972..11984333 [GRCh38] Chr8:11298481..11841842 [GRCh37] Chr8:11335891..11879251 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:11739235-11803434)x1	copy number loss	See cases [RCV000140679]	Chr8:11739235..11803434 [GRCh38] Chr8:11596744..11660943 [GRCh37] Chr8:11634153..11698352 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	copy number gain	See cases [RCV000140847]	Chr8:10510192..12003060 [GRCh38] Chr8:10367702..11860569 [GRCh37] Chr8:10405112..11897978 [NCBI36] Chr8:8p23.1	uncertain significance
GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	copy number loss	See cases [RCV000140886]	Chr8:8222339..11984333 [GRCh38] Chr8:8079861..11841842 [GRCh37] Chr8:8117271..11879251 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	copy number loss	See cases [RCV000141976]	Chr8:8235647..12037723 [GRCh38] Chr8:8093169..11895232 [GRCh37] Chr8:8130579..11932641 [NCBI36] Chr8:8p23.1	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 8p23.1(chr8:11732785-11814529)x3	copy number gain	See cases [RCV000142966]	Chr8:11732785..11814529 [GRCh38] Chr8:11590294..11672038 [GRCh37] Chr8:11627703..11709447 [NCBI36] Chr8:8p23.1	uncertain significance
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(chr8:8273108-12610034)x1	copy number loss	See cases [RCV000142710]	Chr8:8273108..12610034 [GRCh38] Chr8:8130630..12467543 [GRCh37] Chr8:8168040..12511914 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	copy number loss	See cases [RCV000143356]	Chr8:8235647..12077956 [GRCh38] Chr8:8093169..11935465 [GRCh37] Chr8:8130579..11972874 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	copy number gain	See cases [RCV000143280]	Chr8:8235544..12088347 [GRCh38] Chr8:8093066..11945856 [GRCh37] Chr8:8130476..11983265 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	copy number gain	See cases [RCV000143248]	Chr8:226452..12698554 [GRCh38] Chr8:176452..12556063 [GRCh37] Chr8:166452..12600434 [NCBI36] Chr8:8p23.3-23.1	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(chr8:8222339-12182465)x1	copy number loss	See cases [RCV000148286]	Chr8:8222339..12182465 [GRCh38] Chr8:8079861..12039974 [GRCh37] Chr8:8117271..12077383 [NCBI36] Chr8:8p23.1	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 8p23.3-22(chr8:158991-13304906)x3	copy number gain	See cases [RCV000240124]	Chr8:158991..13304906 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8127723-11858461)x1	copy number loss	See cases [RCV000203433]	Chr8:8127723..11858461 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1	copy number loss	Premature ovarian failure [RCV000225350]	Chr8:8131816..12249050 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:10815348-11860230)x3	copy number gain	See cases [RCV000239878]	Chr8:10815348..11860230 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3	copy number gain	See cases [RCV000239409]	Chr8:164984..11860845 [GRCh37] Chr8:8p23.3-23.1	pathogenic
NM_145043.4(NEIL2):c.385del (p.Arg129fs)	deletion	not provided [RCV000308665]	Chr8:11779844 [GRCh38] Chr8:11637353 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:8093168-11898980)	copy number gain	Neurodevelopmental delay [RCV002280755]	Chr8:8093168..11898980 [GRCh37] Chr8:8p23.1	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 8p23.1(chr8:8093169-11888779)x1	copy number loss	See cases [RCV000446839]	Chr8:8093169..11888779 [GRCh37] Chr8:8p23.1	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 8p23.1(chr8:8093169-11845219)x3	copy number gain	See cases [RCV000446314]	Chr8:8093169..11845219 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:11362682-11709476)x3	copy number gain	See cases [RCV000445792]	Chr8:11362682..11709476 [GRCh37] Chr8:8p23.1	likely pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3	copy number gain	See cases [RCV000448692]	Chr8:1166068..12570914 [GRCh37] Chr8:8p23.3-23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	copy number gain	See cases [RCV000448695]	Chr8:158991..17536147 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:11640871-11651233)x1	copy number loss	See cases [RCV000448799]	Chr8:11640871..11651233 [GRCh37] Chr8:8p23.1	likely benign
GRCh37/hg19 8p23.1(chr8:9144943-11945856)x3	copy number gain	See cases [RCV000448829]	Chr8:9144943..11945856 [GRCh37] Chr8:8p23.1	likely 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 8p23.3-22(chr8:158048-13309069)x1	copy number loss	See cases [RCV000510201]	Chr8:158048..13309069 [GRCh37] Chr8:8p23.3-22	likely pathogenic
GRCh37/hg19 8p23.1(chr8:10110508-11882401)x3	copy number gain	See cases [RCV000510273]	Chr8:10110508..11882401 [GRCh37] Chr8:8p23.1	likely pathogenic
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(chr8:11608214-11683083)x1	copy number loss	See cases [RCV000510752]	Chr8:11608214..11683083 [GRCh37] Chr8:8p23.1	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_145043.4(NEIL2):c.129G>C (p.Gln43His)	single nucleotide variant	not specified [RCV004332249]	Chr8:11771576 [GRCh38] Chr8:11629085 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:7053186-11805960)x3	copy number gain	See cases [RCV000512636]	Chr8:7053186..11805960 [GRCh37] Chr8:7040596..11843369 [NCBI36] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11881742)x1	copy number loss	See cases [RCV000512227]	Chr8:8093169..11881742 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	copy number gain	not provided [RCV000683037]	Chr8:168483..13147575 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	copy number gain	not provided [RCV000683039]	Chr8:158048..13974319 [GRCh37] Chr8:8p23.3-22	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 8p23.1-21.2(chr8:8770948-27079636)x3	copy number gain	not provided [RCV000683041]	Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11945855)x3	copy number gain	not provided [RCV000683028]	Chr8:8093065..11945855 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11935465)x1	copy number loss	not provided [RCV000683027]	Chr8:8093169..11935465 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	copy number gain	not provided [RCV000683040]	Chr8:158048..15423270 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:10647782-11898980)x1	copy number loss	not provided [RCV000683007]	Chr8:10647782..11898980 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3	copy number gain	not provided [RCV000683030]	Chr8:6999219..11898980 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8119295-11765719)x3	copy number gain	not provided [RCV000683025]	Chr8:8119295..11765719 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	copy number loss	not provided [RCV000683026]	Chr8:8093169..11898980 [GRCh37] Chr8:8p23.1	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 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1(chr8:8105359-11859851)x3	copy number gain	not provided [RCV000747347]	Chr8:8105359..11859851 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8111659-11898209)x3	copy number gain	not provided [RCV000747348]	Chr8:8111659..11898209 [GRCh37] Chr8:8p23.1	pathogenic
NM_145043.4(NEIL2):c.*969A>G	single nucleotide variant	not provided [RCV001666606]	Chr8:11787242 [GRCh38] Chr8:11644751 [GRCh37] Chr8:8p23.1	benign
NM_145043.4(NEIL2):c.910C>A (p.Pro304Thr)	single nucleotide variant	not provided [RCV000905766]	Chr8:11786184 [GRCh38] Chr8:11643693 [GRCh37] Chr8:8p23.1	benign
NM_145043.4(NEIL2):c.205C>G (p.Pro69Ala)	single nucleotide variant	not provided [RCV000968619]	Chr8:11779664 [GRCh38] Chr8:11637173 [GRCh37] Chr8:8p23.1	likely benign
NM_145043.4(NEIL2):c.307C>T (p.Arg103Trp)	single nucleotide variant	not provided [RCV000967079]	Chr8:11779766 [GRCh38] Chr8:11637275 [GRCh37] Chr8:8p23.1	benign
NM_145043.4(NEIL2):c.114G>A (p.Gln38=)	single nucleotide variant	not provided [RCV000951276]	Chr8:11771561 [GRCh38] Chr8:11629070 [GRCh37] Chr8:8p23.1	benign
GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	copy number gain	not provided [RCV000767676]	Chr8:194617..13947374 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8403375-11805960)	copy number loss	Tetralogy of Fallot [RCV000767642]	Chr8:8403375..11805960 [GRCh37] Chr8:8p23.1	pathogenic
NM_145043.4(NEIL2):c.420C>T (p.Ser140=)	single nucleotide variant	not provided [RCV000900336]	Chr8:11779879 [GRCh38] Chr8:11637388 [GRCh37] Chr8:8p23.1	likely benign
GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	copy number loss	not provided [RCV001006063]	Chr8:8093169..11936001 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:11641710-11793548)x1	copy number loss	not provided [RCV001006075]	Chr8:11641710..11793548 [GRCh37] Chr8:8p23.1	likely benign
Single allele	duplication	Neurodevelopmental disorder [RCV000787445]	Chr8:8112589..11967869 [GRCh37] Chr8:8p23.1	likely pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11882913)x3	copy number gain	not provided [RCV000848343]	Chr8:8093065..11882913 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	copy number gain	not provided [RCV000847864]	Chr8:8093065..11945856 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	copy number loss	not provided [RCV000849225]	Chr8:8093169..11898980 [GRCh37] Chr8:8p23.1	pathogenic
NM_145043.4(NEIL2):c.77G>C (p.Gly26Ala)	single nucleotide variant	High myopia [RCV000785709]	Chr8:11771524 [GRCh38] Chr8:11629033 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:8102723-11936107)x3	copy number gain	not provided [RCV000847249]	Chr8:8102723..11936107 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	copy number loss	not provided [RCV000847768]	Chr8:158048..14214722 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11888779)x3	copy number gain	not provided [RCV000848227]	Chr8:8093169..11888779 [GRCh37] Chr8:8p23.1	pathogenic
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 8p23.1(chr8:8093065-11881742)x3	copy number gain	not provided [RCV001006062]	Chr8:8093065..11881742 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	copy number gain	not provided [RCV000846764]	Chr8:8093065..11945856 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:11632835-11682672)x1	copy number loss	not provided [RCV000845983]	Chr8:11632835..11682672 [GRCh37] Chr8:8p23.1	uncertain significance
Single allele	duplication	Thoracic aortic aneurysm [RCV001751799]	Chr8:11403560..11853760 [GRCh37] Chr8:8p23.1	likely pathogenic
NM_145043.4(NEIL2):c.633C>T (p.Gly211=)	single nucleotide variant	not provided [RCV000888237]	Chr8:11783344 [GRCh38] Chr8:11640853 [GRCh37] Chr8:8p23.1	benign
NM_145043.4(NEIL2):c.948G>A (p.Pro316=)	single nucleotide variant	not provided [RCV000888238]	Chr8:11786222 [GRCh38] Chr8:11643731 [GRCh37] Chr8:8p23.1	benign
NM_145043.4(NEIL2):c.566T>A (p.Val189Glu)	single nucleotide variant	not specified [RCV004139126]	Chr8:11783277 [GRCh38] Chr8:11640786 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	copy number loss	not provided [RCV002472557]	Chr8:158049..18936715 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	copy number gain	not provided [RCV001006060]	Chr8:6999219..11895232 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1	copy number loss	See cases [RCV001195073]	Chr8:7881478..11860845 [GRCh37] Chr8:8p23.1	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 8p23.1(chr8:11147024-11945856)x1	copy number loss	not provided [RCV001260026]	Chr8:11147024..11945856 [GRCh37] Chr8:8p23.1	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 8p23.1(chr8:11346831-11668949)x3	copy number gain	not provided [RCV001829195]	Chr8:11346831..11668949 [GRCh37] Chr8:8p23.1	uncertain significance
NC_000008.10:g.(?_9912027)_(11710963_?)dup	duplication	not provided [RCV001928084]	Chr8:9912027..11710963 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	copy number gain	not provided [RCV001827598]	Chr8:158048..11936107 [GRCh37] Chr8:8p23.3-23.1	pathogenic
NC_000008.10:g.(?_9912027)_(11710963_?)del	deletion	not provided [RCV001990593]	Chr8:9912027..11710963 [GRCh37] Chr8:8p23.1	uncertain significance
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
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 8p23.1(chr8:8093066-12548732)x1	copy number loss	not provided [RCV002472610]	Chr8:8093066..12548732 [GRCh37] Chr8:8p23.1	pathogenic
NM_145043.4(NEIL2):c.134C>G (p.Thr45Ser)	single nucleotide variant	not specified [RCV004145386]	Chr8:11771581 [GRCh38] Chr8:11629090 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.452A>C (p.Lys151Thr)	single nucleotide variant	not specified [RCV004076401]	Chr8:11779911 [GRCh38] Chr8:11637420 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.945C>G (p.Cys315Trp)	single nucleotide variant	not specified [RCV004144837]	Chr8:11786219 [GRCh38] Chr8:11643728 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.725G>A (p.Gly242Glu)	single nucleotide variant	not specified [RCV004169065]	Chr8:11785999 [GRCh38] Chr8:11643508 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.652T>C (p.Tyr218His)	single nucleotide variant	not specified [RCV004169367]	Chr8:11783363 [GRCh38] Chr8:11640872 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.475A>G (p.Arg159Gly)	single nucleotide variant	not specified [RCV004069671]	Chr8:11779934 [GRCh38] Chr8:11637443 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.608G>A (p.Arg203Gln)	single nucleotide variant	not specified [RCV004072879]	Chr8:11783319 [GRCh38] Chr8:11640828 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.745G>A (p.Gly249Ser)	single nucleotide variant	not specified [RCV004165337]	Chr8:11786019 [GRCh38] Chr8:11643528 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.947C>T (p.Pro316Leu)	single nucleotide variant	not specified [RCV004245456]	Chr8:11786221 [GRCh38] Chr8:11643730 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.716A>G (p.Tyr239Cys)	single nucleotide variant	not specified [RCV004140263]	Chr8:11785990 [GRCh38] Chr8:11643499 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.671G>C (p.Arg224Thr)	single nucleotide variant	not specified [RCV004101699]	Chr8:11783382 [GRCh38] Chr8:11640891 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.61C>G (p.Gln21Glu)	single nucleotide variant	not specified [RCV004252167]	Chr8:11771508 [GRCh38] Chr8:11629017 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.221C>T (p.Pro74Leu)	single nucleotide variant	not specified [RCV004330415]	Chr8:11779680 [GRCh38] Chr8:11637189 [GRCh37] Chr8:8p23.1	likely benign
NM_145043.4(NEIL2):c.731A>G (p.His244Arg)	single nucleotide variant	not specified [RCV004260969]	Chr8:11786005 [GRCh38] Chr8:11643514 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.767G>T (p.Arg256Leu)	single nucleotide variant	not specified [RCV004290136]	Chr8:11786041 [GRCh38] Chr8:11643550 [GRCh37] Chr8:8p23.1	uncertain significance
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
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	copy number gain	8p23.1 duplication syndrome [RCV003329529]	Chr8:7080281..12045269 [GRCh37] Chr8:8p23.1	pathogenic
NM_145043.4(NEIL2):c.959C>A (p.Pro320His)	single nucleotide variant	not specified [RCV004340103]	Chr8:11786233 [GRCh38] Chr8:11643742 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.452A>T (p.Lys151Ile)	single nucleotide variant	not specified [RCV004349359]	Chr8:11779911 [GRCh38] Chr8:11637420 [GRCh37] Chr8:8p23.1	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 8p23.1-22(chr8:8093169-14526969)x3	copy number gain	not provided [RCV003484718]	Chr8:8093169..14526969 [GRCh37] Chr8:8p23.1-22	pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	copy number loss	not provided [RCV003482999]	Chr8:158049..11898696 [GRCh37] Chr8:8p23.3-23.1	pathogenic
NM_145043.4(NEIL2):c.15G>A (p.Pro5=)	single nucleotide variant	not provided [RCV003436739]	Chr8:11771462 [GRCh38] Chr8:11628971 [GRCh37] Chr8:8p23.1	likely benign
GRCh37/hg19 8p23.1(chr8:10783690-11882401)x3	copy number gain	not specified [RCV003986744]	Chr8:10783690..11882401 [GRCh37] Chr8:8p23.1	uncertain significance
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
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
NM_145043.4(NEIL2):c.390G>T (p.Trp130Cys)	single nucleotide variant	not specified [RCV004485792]	Chr8:11779849 [GRCh38] Chr8:11637358 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.462G>T (p.Lys154Asn)	single nucleotide variant	not specified [RCV004485801]	Chr8:11779921 [GRCh38] Chr8:11637430 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.518G>A (p.Gly173Asp)	single nucleotide variant	not specified [RCV004485809]	Chr8:11783229 [GRCh38] Chr8:11640738 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.574C>G (p.Pro192Ala)	single nucleotide variant	not specified [RCV004485816]	Chr8:11783285 [GRCh38] Chr8:11640794 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.995C>G (p.Ser332Cys)	single nucleotide variant	not specified [RCV004485867]	Chr8:11786269 [GRCh38] Chr8:11643778 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.103G>A (p.Ala35Thr)	single nucleotide variant	not specified [RCV004485765]	Chr8:11771550 [GRCh38] Chr8:11629059 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.326C>T (p.Pro109Leu)	single nucleotide variant	not specified [RCV004485776]	Chr8:11779785 [GRCh38] Chr8:11637294 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.337G>T (p.Asp113Tyr)	single nucleotide variant	not specified [RCV004485785]	Chr8:11779796 [GRCh38] Chr8:11637305 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.368C>T (p.Pro123Leu)	single nucleotide variant	not specified [RCV004485789]	Chr8:11779827 [GRCh38] Chr8:11637336 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.397G>C (p.Val133Leu)	single nucleotide variant	not specified [RCV004485794]	Chr8:11779856 [GRCh38] Chr8:11637365 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.455C>T (p.Ala152Val)	single nucleotide variant	not specified [RCV004485798]	Chr8:11779914 [GRCh38] Chr8:11637423 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.509G>A (p.Gly170Asp)	single nucleotide variant	not specified [RCV004485807]	Chr8:11783220 [GRCh38] Chr8:11640729 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.984G>T (p.Gln328His)	single nucleotide variant	not specified [RCV004485860]	Chr8:11786258 [GRCh38] Chr8:11643767 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	copy number gain	See cases [RCV004442825]	Chr8:158049..16225393 [GRCh37] Chr8:8p23.3-22	pathogenic
NM_145043.4(NEIL2):c.682G>A (p.Gly228Arg)	single nucleotide variant	not specified [RCV004485828]	Chr8:11783393 [GRCh38] Chr8:11640902 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	copy number gain	not provided [RCV004577466]	Chr8:7153587..12245784 [GRCh37] Chr8:8p23.1	pathogenic
NC_000008.10:g.(?_11351220)_(11710963_?)dup	duplication	Atrioventricular septal defect 4 [RCV004583284]	Chr8:11351220..11710963 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.35A>G (p.His12Arg)	single nucleotide variant	not specified [RCV004641477]	Chr8:11771482 [GRCh38] Chr8:11628991 [GRCh37] Chr8:8p23.1	likely benign
NM_145043.4(NEIL2):c.788A>G (p.His263Arg)	single nucleotide variant	not specified [RCV004641476]	Chr8:11786062 [GRCh38] Chr8:11643571 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.10G>A (p.Gly4Arg)	single nucleotide variant	not specified [RCV004654722]	Chr8:11771457 [GRCh38] Chr8:11628966 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.199A>G (p.Ser67Gly)	single nucleotide variant	not specified [RCV004654723]	Chr8:11779658 [GRCh38] Chr8:11637167 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.797A>C (p.Glu266Ala)	single nucleotide variant	not specified [RCV004654720]	Chr8:11786071 [GRCh38] Chr8:11643580 [GRCh37] Chr8:8p23.1	uncertain significance
NM_145043.4(NEIL2):c.847A>C (p.Thr283Pro)	single nucleotide variant	not specified [RCV004654721]	Chr8:11786121 [GRCh38] Chr8:11643630 [GRCh37] Chr8:8p23.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2604
Count of miRNA genes:	739
Interacting mature miRNAs:	844
Transcripts:	ENST00000284503, ENST00000403422, ENST00000436750, ENST00000455213, ENST00000524741, ENST00000528113, ENST00000528323
Prediction methods:	Microtar, Miranda, Rnahybrid
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
407061441	GWAS710417_H	apolipoprotein A 1 measurement QTL GWAS710417 (human)		4e-18	apolipoprotein A 1 measurement	blood apolipoprotein AI level (CMO:0000520)	8	11771732	11771733	Human
407145601	GWAS794577_H	alcohol dependence QTL GWAS794577 (human)		0.000002	alcohol dependence		8	11786406	11786407	Human
407114211	GWAS763187_H	triglyceride measurement, alcohol consumption measurement QTL GWAS763187 (human)		1e-10	triglyceride measurement, alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	8	11775019	11775020	Human
407073647	GWAS722623_H	triglyceride measurement, alcohol drinking QTL GWAS722623 (human)		2e-13	triglyceride measurement, alcohol drinking	blood triglyceride level (CMO:0000118)	8	11775019	11775020	Human
407248234	GWAS897210_H	BMI-adjusted waist-hip ratio QTL GWAS897210 (human)		2e-09	BMI-adjusted waist-hip ratio		8	11775679	11775680	Human
406982829	GWAS631805_H	systolic blood pressure QTL GWAS631805 (human)		8e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	11781369	11781370	Human
407278228	GWAS927204_H	triglyceride measurement QTL GWAS927204 (human)		0.0000004	triglyceride measurement	blood triglyceride level (CMO:0000118)	8	11775019	11775020	Human
407027381	GWAS676357_H	neutrophil count QTL GWAS676357 (human)		0.000001	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	8	11780735	11780736	Human
407238428	GWAS887404_H	gut microbiome measurement QTL GWAS887404 (human)		3e-08	gut microbiome measurement		8	11771610	11771611	Human
407073465	GWAS722441_H	triglyceride measurement, alcohol drinking QTL GWAS722441 (human)		5e-12	triglyceride measurement, alcohol drinking	blood triglyceride level (CMO:0000118)	8	11775019	11775020	Human
407277180	GWAS926156_H	triglyceride measurement QTL GWAS926156 (human)		0.000007	triglyceride measurement	blood triglyceride level (CMO:0000118)	8	11775019	11775020	Human
407189310	GWAS838286_H	BMI-adjusted waist-hip ratio QTL GWAS838286 (human)		1e-09	BMI-adjusted waist-hip ratio		8	11775679	11775680	Human
407181689	GWAS830665_H	Cholecystitis QTL GWAS830665 (human)		4e-08	Cholecystitis		8	11772128	11772129	Human
407010398	GWAS659374_H	BMI-adjusted waist circumference QTL GWAS659374 (human)		2e-08	BMI-adjusted waist circumference		8	11775679	11775680	Human
407050237	GWAS699213_H	lysophosphatidylethanolamine 16:0 measurement QTL GWAS699213 (human)		0.000006	blood lipid amount (VT:0003949)		8	11783898	11783899	Human
406966239	GWAS615215_H	nicotine use QTL GWAS615215 (human)		0.000003	nicotine use		8	11786406	11786407	Human
407015357	GWAS664333_H	Calcium channel blocker use measurement QTL GWAS664333 (human)		6e-09	Calcium channel blocker use measurement		8	11773406	11773407	Human
407114971	GWAS763947_H	triglyceride measurement, alcohol consumption measurement QTL GWAS763947 (human)		1e-12	triglyceride measurement, alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	8	11775019	11775020	Human
406941982	GWAS590958_H	ocular sarcoidosis QTL GWAS590958 (human)		0.0000006	eye integrity trait (VT:0011107)		8	11779424	11779425	Human

Markers in Region

Cda1jc12

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	11,644,687 - 11,644,770	UniSTS	GRCh37
GRCh37	4	151,342,803 - 151,342,892	UniSTS	GRCh37
Build 36	4	151,562,253 - 151,562,342	RGD	NCBI36
Celera	8	10,774,014 - 10,774,097	UniSTS
Celera	4	148,662,283 - 148,662,372	RGD
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	4	q31.3	UniSTS
HuRef	8	10,575,646 - 10,575,729	UniSTS
HuRef	4	147,068,443 - 147,068,532	UniSTS

G54043

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	11,644,680 - 11,644,816	UniSTS	GRCh37
Build 36	8	11,682,089 - 11,682,225	RGD	NCBI36
Celera	8	10,774,007 - 10,774,143	RGD
Cytogenetic Map	8	p23.1	UniSTS
HuRef	8	10,575,639 - 10,575,775	UniSTS

RH108

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	11,644,567 - 11,644,806	UniSTS	GRCh37
Build 36	8	11,681,976 - 11,682,215	RGD	NCBI36
Celera	8	10,773,894 - 10,774,133	RGD
Cytogenetic Map	8	p23.1	UniSTS
HuRef	8	10,575,526 - 10,575,765	UniSTS
GeneMap99-GB4 RH Map	8	35.42	UniSTS

A008R37

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	11,637,133 - 11,637,326	UniSTS	GRCh37
Build 36	8	11,674,542 - 11,674,735	RGD	NCBI36
Celera	8	10,766,460 - 10,766,653	RGD
Cytogenetic Map	8	p23.1	UniSTS
HuRef	8	10,568,092 - 10,568,285	UniSTS
GeneMap99-GB4 RH Map	8	30.62	UniSTS

NEIL2__6226

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	11,643,978 - 11,644,888	UniSTS	GRCh37
Build 36	8	11,681,387 - 11,682,297	RGD	NCBI36
Celera	8	10,773,305 - 10,774,215	RGD
HuRef	8	10,574,936 - 10,575,847	UniSTS

IB46

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	11,644,567 - 11,644,768	UniSTS	GRCh37
Build 36	8	11,681,976 - 11,682,177	RGD	NCBI36
Celera	8	10,773,894 - 10,774,095	RGD
Cytogenetic Map	8	p23.1	UniSTS
HuRef	8	10,575,526 - 10,575,727	UniSTS
GeneMap99-GB4 RH Map	8	50.26	UniSTS
Whitehead-RH Map	8	44.4	UniSTS
NCBI RH Map	8	92.4	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_053043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001135746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001135747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001135748	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001349439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001349440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001349441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001349442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_145043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB079070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC069185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC270285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY306127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC045822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX537529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA037395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA205315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA207321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB452586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000284503 ⟹ ENSP00000284503

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,769,710 - 11,787,345 (+)	Ensembl

Ensembl Acc Id:

ENST00000403422 ⟹ ENSP00000384070

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,769,709 - 11,787,345 (+)	Ensembl

Ensembl Acc Id:

ENST00000436750 ⟹ ENSP00000394023

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,769,639 - 11,787,345 (+)	Ensembl

Ensembl Acc Id:

ENST00000455213 ⟹ ENSP00000397538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,769,699 - 11,787,340 (+)	Ensembl

Ensembl Acc Id:

ENST00000524741

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,782,612 - 11,786,656 (+)	Ensembl

Ensembl Acc Id:

ENST00000528113 ⟹ ENSP00000437004

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,769,710 - 11,786,097 (+)	Ensembl

Ensembl Acc Id:

ENST00000528323 ⟹ ENSP00000435657

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,769,710 - 11,786,374 (+)	Ensembl

RefSeq Acc Id:

NM_001135746 ⟹ NP_001129218

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
GRCh37	8	11,627,172 - 11,644,854 (+)	ENTREZGENE
HuRef	8	10,558,132 - 10,575,813 (+)	ENTREZGENE
CHM1_1	8	11,692,655 - 11,710,334 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGGATGCCAGAAGGGCCGTTGGTGAGGAAATTTCACCATTTGGTCTC
CCCCTTTGTGGGTCAGCAGGTGGTCAAGACAGGGGGCAGCAGTAAGAAGCTACAGCCCGCCAGC
CTGCAGTCTCTGTGGCTCCAGGACACCCAGGTCCATGGAAAGAAATTATTCCTTAGATTTGATC
TAGATGAAGAAATGGGGCCCCCTGGCAGCAGCCCAACACCAGAGCCTCCACAAAAAGAAGTGCA
GAAGGAAGGGGCTGCGGACCCAAAGCAGGTCGGGGAGCCCAGCGGGCAGAAGACCCTTGATGGA
TCCTCACGGTCTGCAGAGCTCGTCCCCCAGGGCGAGGATGATTCTGAGTATTTGGAGAGAGACG
CCCCTGCAGGAGATGCTGGGAGGTGGCTGCGTGTCAGCTTTGGTTTGTTTGGCAGCGTTTGGGT
GAACGATTTCTCCAGAGCCAAGAAAGCCAACAAGAGGGGGGACTGGAGGGACCCTTCCCCGAGG
TTGGTCCTGCACTTTGGTGGTGGTGGCTTCCTGGCATTTTATAATTGTCAGTTGTCTTGGAGCT
CTTCCCCAGTGGTCACACCCACCTGTGACATCCTGTCTGAGAAGTTCCATCGAGGACAAGCCTT
AGAAGCTCTAGGCCAGGCTCAGCCTGTCTGCTATACACTGCTGGACCAGAGATACTTCTCAGGG
CTAGGGAACATCATTAAGAATGAAGCCTTGTACAGAGCTGGGATCCATCCCCTTTCTCTCGGTT
CAGTCCTGAGTGCCTCGCGTCGGGAGGTCCTGGTGGATCACGTGGTGGAGTTCAGTACAGCCTG
GCTGCAGGGCAAGTTCCAAGGCAGACCGCAGCACACACAGGTCTACCAGAAAGAACAGTGCCCT
GCTGGCCACCAGGTCATGAAGGAGGCGTTTGGGCCCGAAGATGGGTTACAGAGGCTCACCTGGT
GGTGCCCGCAGTGCCAGCCCCAGTTGTCAGAGGAGCCAGAGCAGTGCCAGTTCTCCTAAGGAGC
TGGTGGTGCTCCTCACGGAACCTTGCCGCTTGGGGAACCTGACGTCTAAGTGTCCAGAAAGGAG
GATGTGGGCAGGGACGGGGTACAGAGGATAGTGTGGGTCAGAGGTGCCAGTAGTATAATATTCG
TCTCCCTGGAGTTATGTTGAAGGCAGAGTTTTCATAGGGTTAGATTTTTTTTATCCTTTTCTAG
TTCAGTTAATTCATCCTGTTGAATTGCACCATCGTGAAAGATGGGAAAAATCGTGATGATGGGT
AAGGGGAAAACTTCCCGGAAGGCAATGGGGCAAGGAAAAAGAAAGCCTATGGGAAATGGCTGTG
CTCCCAACATAGCTTTGCAGATGATGTGGGTTTTTTTTTTTTTTTTGGTTGTTTGTTTTGAGAG
AGAGTCTTGCTCTGTCTCCCTGGCTAGGGTGTGGTGGTGTGATCTTGGCTCACGGCAGCCTTGC
CCTCCCTGGCTCAAGCAGTCTTCATCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGATA
TGATGCTCGGCTGATTTTTGTTTACTTTTTAGAGAGATGGGGTCTTGCCATATTTGCCAGGCTG
GTTTGAACTCCTACAACTCAAGCATTCCTCCCACCTTGGTCTCCCAAAATGTTGGGACCACGGG
TGTGAGCCACCGCGCCCAGCTAGCTCCTGTGTTTTGTTTTTGTTTTGTAACTTTGGTTGATGTT
AAGGCCCTCCATTTTGGAAAGCAGGAAAACAGGATTTTTTTTTTTTTATCTTGTTCCCTGGAGG
ATCCAGGGATGAGGATAGAGTGGCCTGAGAGCAGTGCTTGGATTCAGCCTCCTGCTGGGTCCTT
CTGCTGGATACAGGCACCAAGAGGCGGTCGTGGAGCAGGGAGCTGCGCCTTCCTGGGGTGCCCG
GTGGTGTGTAGAGAAAAGCTGCTTGTTTACTCCTTAAGTCAATGTATTGGTGACTGTTGATTTG
TTGAACAATTCAGGAATCAAGGGCTGTGGAGAAACTCCCTCATGTTGTTGGCAACAGGTGAATG
AACCTAGAGCGGTGACATGAAAATAAAGCTCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NM_001135747 ⟹ NP_001129219

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
GRCh37	8	11,627,172 - 11,644,854 (+)	ENTREZGENE
HuRef	8	10,558,132 - 10,575,813 (+)	ENTREZGENE
CHM1_1	8	11,692,655 - 11,710,334 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGTCCATGGAAAGAAATTATTCCTTAGATTTGATCTAGATGAAGAAA
TGGGGCCCCCTGGCAGCAGCCCAACACCAGAGCCTCCACAAAAAGAAGTGCAGAAGGAAGGGGC
TGCGGACCCAAAGCAGGTCGGGGAGCCCAGCGGGCAGAAGACCCTTGATGGATCCTCACGGTCT
GCAGAGCTCGTCCCCCAGGGCGAGGATGATTCTGAGTATTTGGAGAGAGACGCCCCTGCAGGAG
ATGCTGGGAGGTGGCTGCGTGTCAGCTTTGGTTTGTTTGGCAGCGTTTGGGTGAACGATTTCTC
CAGAGCCAAGAAAGCCAACAAGAGGGGGGACTGGAGGGACCCTTCCCCGAGGTTGGTCCTGCAC
TTTGGTGGTGGTGGCTTCCTGGCATTTTATAATTGTCAGTTGTCTTGGAGCTCTTCCCCAGTGG
TCACACCCACCTGTGACATCCTGTCTGAGAAGTTCCATCGAGGACAAGCCTTAGAAGCTCTAGG
CCAGGCTCAGCCTGTCTGCTATACACTGCTGGACCAGAGATACTTCTCAGGGCTAGGGAACATC
ATTAAGAATGAAGCCTTGTACAGAGCTGGGATCCATCCCCTTTCTCTCGGTTCAGTCCTGAGTG
CCTCGCGTCGGGAGGTCCTGGTGGATCACGTGGTGGAGTTCAGTACAGCCTGGCTGCAGGGCAA
GTTCCAAGGCAGACCGCAGCACACACAGGTCTACCAGAAAGAACAGTGCCCTGCTGGCCACCAG
GTCATGAAGGAGGCGTTTGGGCCCGAAGATGGGTTACAGAGGCTCACCTGGTGGTGCCCGCAGT
GCCAGCCCCAGTTGTCAGAGGAGCCAGAGCAGTGCCAGTTCTCCTAAGGAGCTGGTGGTGCTCC
TCACGGAACCTTGCCGCTTGGGGAACCTGACGTCTAAGTGTCCAGAAAGGAGGATGTGGGCAGG
GACGGGGTACAGAGGATAGTGTGGGTCAGAGGTGCCAGTAGTATAATATTCGTCTCCCTGGAGT
TATGTTGAAGGCAGAGTTTTCATAGGGTTAGATTTTTTTTATCCTTTTCTAGTTCAGTTAATTC
ATCCTGTTGAATTGCACCATCGTGAAAGATGGGAAAAATCGTGATGATGGGTAAGGGGAAAACT
TCCCGGAAGGCAATGGGGCAAGGAAAAAGAAAGCCTATGGGAAATGGCTGTGCTCCCAACATAG
CTTTGCAGATGATGTGGGTTTTTTTTTTTTTTTTGGTTGTTTGTTTTGAGAGAGAGTCTTGCTC
TGTCTCCCTGGCTAGGGTGTGGTGGTGTGATCTTGGCTCACGGCAGCCTTGCCCTCCCTGGCTC
AAGCAGTCTTCATCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGATATGATGCTCGGCT
GATTTTTGTTTACTTTTTAGAGAGATGGGGTCTTGCCATATTTGCCAGGCTGGTTTGAACTCCT
ACAACTCAAGCATTCCTCCCACCTTGGTCTCCCAAAATGTTGGGACCACGGGTGTGAGCCACCG
CGCCCAGCTAGCTCCTGTGTTTTGTTTTTGTTTTGTAACTTTGGTTGATGTTAAGGCCCTCCAT
TTTGGAAAGCAGGAAAACAGGATTTTTTTTTTTTTATCTTGTTCCCTGGAGGATCCAGGGATGA
GGATAGAGTGGCCTGAGAGCAGTGCTTGGATTCAGCCTCCTGCTGGGTCCTTCTGCTGGATACA
GGCACCAAGAGGCGGTCGTGGAGCAGGGAGCTGCGCCTTCCTGGGGTGCCCGGTGGTGTGTAGA
GAAAAGCTGCTTGTTTACTCCTTAAGTCAATGTATTGGTGACTGTTGATTTGTTGAACAATTCA
GGAATCAAGGGCTGTGGAGAAACTCCCTCATGTTGTTGGCAACAGGTGAATGAACCTAGAGCGG
TGACATGAAAATAAAGCTCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NM_001135748 ⟹ NP_001129220

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
GRCh37	8	11,627,172 - 11,644,854 (+)	ENTREZGENE
HuRef	8	10,558,132 - 10,575,813 (+)	ENTREZGENE
CHM1_1	8	11,692,655 - 11,710,334 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGCTGTTGCAGAGGCGGCTTGCTTCCCACCTGTCCATCTCCATAAAA
ATCCCTAAACGAAACATGCCCACGTGTCCGGAGATTTTCAGGACTTGGTGCATTTCAGATGAAG
GCTTTTCCAGAAGCTTCCCCGTAGAAGAGGATCAGGCATCCAACTGGTTAAGGGATGCCAGAAG
GGCCGTTGGTGAGGAAATTTCACCATTTGGTCTCCCCCTTTGTGGGTCAGCAGGTGGTCAAGAC
AGGGGGCAGCAGTAAGAAGCTACAGCCCGCCAGCCTGCAGTCTCTGTGGCTCCAGGACACCCAG
GTGAGGTTGGTCCTGCACTTTGGTGGTGGTGGCTTCCTGGCATTTTATAATTGTCAGTTGTCTT
GGAGCTCTTCCCCAGTGGTCACACCCACCTGTGACATCCTGTCTGAGAAGTTCCATCGAGGACA
AGCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGTCTGCTATACACTGCTGGACCAGAGATACTTC
TCAGGGCTAGGGAACATCATTAAGAATGAAGCCTTGTACAGAGCTGGGATCCATCCCCTTTCTC
TCGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGGTCCTGGTGGATCACGTGGTGGAGTTCAGTAC
AGCCTGGCTGCAGGGCAAGTTCCAAGGCAGACCGCAGCACACACAGGTCTACCAGAAAGAACAG
TGCCCTGCTGGCCACCAGGTCATGAAGGAGGCGTTTGGGCCCGAAGATGGGTTACAGAGGCTCA
CCTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGTCAGAGGAGCCAGAGCAGTGCCAGTTCTCCTA
AGGAGCTGGTGGTGCTCCTCACGGAACCTTGCCGCTTGGGGAACCTGACGTCTAAGTGTCCAGA
AAGGAGGATGTGGGCAGGGACGGGGTACAGAGGATAGTGTGGGTCAGAGGTGCCAGTAGTATAA
TATTCGTCTCCCTGGAGTTATGTTGAAGGCAGAGTTTTCATAGGGTTAGATTTTTTTTATCCTT
TTCTAGTTCAGTTAATTCATCCTGTTGAATTGCACCATCGTGAAAGATGGGAAAAATCGTGATG
ATGGGTAAGGGGAAAACTTCCCGGAAGGCAATGGGGCAAGGAAAAAGAAAGCCTATGGGAAATG
GCTGTGCTCCCAACATAGCTTTGCAGATGATGTGGGTTTTTTTTTTTTTTTTGGTTGTTTGTTT
TGAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAGGGTGTGGTGGTGTGATCTTGGCTCACGGCAG
CCTTGCCCTCCCTGGCTCAAGCAGTCTTCATCTCAGCCTCCAGAGTAGCTGGGACTACAGGCAT
GTGATATGATGCTCGGCTGATTTTTGTTTACTTTTTAGAGAGATGGGGTCTTGCCATATTTGCC
AGGCTGGTTTGAACTCCTACAACTCAAGCATTCCTCCCACCTTGGTCTCCCAAAATGTTGGGAC
CACGGGTGTGAGCCACCGCGCCCAGCTAGCTCCTGTGTTTTGTTTTTGTTTTGTAACTTTGGTT
GATGTTAAGGCCCTCCATTTTGGAAAGCAGGAAAACAGGATTTTTTTTTTTTTATCTTGTTCCC
TGGAGGATCCAGGGATGAGGATAGAGTGGCCTGAGAGCAGTGCTTGGATTCAGCCTCCTGCTGG
GTCCTTCTGCTGGATACAGGCACCAAGAGGCGGTCGTGGAGCAGGGAGCTGCGCCTTCCTGGGG
TGCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTTTACTCCTTAAGTCAATGTATTGGTGACTGTT
GATTTGTTGAACAATTCAGGAATCAAGGGCTGTGGAGAAACTCCCTCATGTTGTTGGCAACAGG
TGAATGAACCTAGAGCGGTGACATGAAAATAAAGCTCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NM_001349439 ⟹ NP_001336368

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGGATGCCAGAAGGGCCGTTGGTGAGGAAATTTCACCATTTGGTCTC
CCCCTTTGTGGGTCAGCAGGTGGTCAAGACAGGGGGCAGCAGTAAGAAGCTACAGCCCGCCAGC
CTGCAGTCTCTGTGGCTCCAGGACACCCAGGTGAGGTCCATGGAAAGAAATTATTCCTTAGATT
TGATCTAGATGAAGAAATGGGGCCCCCTGGCAGCAGCCCAACACCAGAGCCTCCACAAAAAGAA
GTGCAGAAGGAAGGGGCTGCGGACCCAAAGCAGGTCGGGGAGCCCAGCGGGCAGAAGACCCTTG
ATGGATCCTCACGGTCTGCAGAGCTCGTCCCCCAGGGCGAGGATGATTCTGAGTATTTGGAGAG
AGACGCCCCTGCAGGAGATGCTGGGAGGTGGCTGCGTGTCAGCTTTGGTTTGTTTGGCAGCGTT
TGGGTGAACGATTTCTCCAGAGCCAAGAAAGCCAACAAGAGGGGGGACTGGAGGGACCCTTCCC
CGAGGTTGGTCCTGCACTTTGGTGGTGGTGGCTTCCTGGCATTTTATAATTGTCAGTTGTCTTG
GAGCTCTTCCCCAGTGGTCACACCCACCTGTGACATCCTGTCTGAGAAGTTCCATCGAGGACAA
GCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGTCTGCTATACACTGCTGGACCAGAGATACTTCT
CAGGGCTAGGGAACATCATTAAGAATGAAGCCTTGTACAGAGCTGGGATCCATCCCCTTTCTCT
CGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGGTCCTGGTGGATCACGTGGTGGAGTTCAGTACA
GCCTGGCTGCAGGGCAAGTTCCAAGGCAGACCGCAGCACACACAGGTCTACCAGAAAGAACAGT
GCCCTGCTGGCCACCAGGTCATGAAGGAGGCGTTTGGGCCCGAAGATGGGTTACAGAGGCTCAC
CTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGTCAGAGGAGCCAGAGCAGTGCCAGTTCTCCTAA
GGAGCTGGTGGTGCTCCTCACGGAACCTTGCCGCTTGGGGAACCTGACGTCTAAGTGTCCAGAA
AGGAGGATGTGGGCAGGGACGGGGTACAGAGGATAGTGTGGGTCAGAGGTGCCAGTAGTATAAT
ATTCGTCTCCCTGGAGTTATGTTGAAGGCAGAGTTTTCATAGGGTTAGATTTTTTTTATCCTTT
TCTAGTTCAGTTAATTCATCCTGTTGAATTGCACCATCGTGAAAGATGGGAAAAATCGTGATGA
TGGGTAAGGGGAAAACTTCCCGGAAGGCAATGGGGCAAGGAAAAAGAAAGCCTATGGGAAATGG
CTGTGCTCCCAACATAGCTTTGCAGATGATGTGGGTTTTTTTTTTTTTTTTGGTTGTTTGTTTT
GAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAGGGTGTGGTGGTGTGATCTTGGCTCACGGCAGC
CTTGCCCTCCCTGGCTCAAGCAGTCTTCATCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATG
TGATATGATGCTCGGCTGATTTTTGTTTACTTTTTAGAGAGATGGGGTCTTGCCATATTTGCCA
GGCTGGTTTGAACTCCTACAACTCAAGCATTCCTCCCACCTTGGTCTCCCAAAATGTTGGGACC
ACGGGTGTGAGCCACCGCGCCCAGCTAGCTCCTGTGTTTTGTTTTTGTTTTGTAACTTTGGTTG
ATGTTAAGGCCCTCCATTTTGGAAAGCAGGAAAACAGGATTTTTTTTTTTTTATCTTGTTCCCT
GGAGGATCCAGGGATGAGGATAGAGTGGCCTGAGAGCAGTGCTTGGATTCAGCCTCCTGCTGGG
TCCTTCTGCTGGATACAGGCACCAAGAGGCGGTCGTGGAGCAGGGAGCTGCGCCTTCCTGGGGT
GCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTTTACTCCTTAAGTCAATGTATTGGTGACTGTTG
ATTTGTTGAACAATTCAGGAATCAAGGGCTGTGGAGAAACTCCCTCATGTTGTTGGCAACAGGT
GAATGAACCTAGAGCGGTGACATGAAAATAAAGCTCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NM_001349440 ⟹ NP_001336369

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGTGAGTGCAGCCGCCCGCCCTCCGGTAGATCTGCGGCCTGGCGGAG
AAGTCGGGAGGGGACAGGAAGGGAGGGCGGGCCCCGGGCCCTCCTCCGTCTCAGCCGCCTGCGG
AGGTGCTGCCCACGCCTGGAGGCCCCCACTGACCCTCAGACCCGCGTCTGCGCCCCTCTCCCCG
CACCCCGAGGCAGAGTTGGGAAAGCAGTGGTCTTAGACCCCCCACCTCGGGCACTCGGAAGAGA
ACGGCGGAGACAACCCCTCCTCTTCCCTGGCTGGCGCAGCGCCAGCCTCGAGCTCCTCGGTAGC
CCCCGGGCAGGGAGGGCCGGAGGGTGGGCGCGGCATCTTCAGCGACTCTTCGAAGTCCCTTCCG
CGTCTCATCTTTCAAGGCTGTTGCAGAGGCGGCTTGCTTCCCACCTGTCCATCTCCATAAAAAT
CCCTAAACGAAACATGCCCACGTGTCCGGAGATTTTCAGGACTTGGTGCATTTCAGATGAAGGC
TTTTCCAGAAGCTTCCCCGTAGAAGAGGATCAGGCATCCAACTGGTTAAGGGATGCCAGAAGGG
CCGTTGGTGAGGAAATTTCACCATTTGGTCTCCCCCTTTGTGGGTCAGCAGGTGGTCAAGACAG
GGGGCAGCAGTAAGAAGCTACAGCCCGCCAGCCTGCAGTCTCTGTGGCTCCAGGACACCCAGGT
GAGGTCCATGGAAAGAAATTATTCCTTAGATTTGATCTAGATGAAGAAATGGGGCCCCCTGGCA
GCAGCCCAACACCAGAGCCTCCACAAAAAGAAGTGCAGAAGGAAGGGGCTGCGGACCCAAAGCA
GGTCGGGGAGCCCAGCGGGCAGAAGACCCTTGATGGATCCTCACGGTCTGCAGAGCTCGTCCCC
CAGGGCGAGGATGATTCTGAGTATTTGGAGAGAGACGCCCCTGCAGGAGATGCTGGGAGGTGGC
TGCGTGTCAGCTTTGGTTTGTTTGGCAGCGTTTGGGTGAACGATTTCTCCAGAGCCAAGAAAGC
CAACAAGAGGGGGGACTGGAGGGACCCTTCCCCGAGGTTGGTCCTGCACTTTGGTGGTGGTGGC
TTCCTGGCATTTTATAATTGTCAGTTGTCTTGGAGCTCTTCCCCAGTGGTCACACCCACCTGTG
ACATCCTGTCTGAGAAGTTCCATCGAGGACAAGCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGT
CTGCTATACACTGCTGGACCAGAGATACTTCTCAGGGCTAGGGAACATCATTAAGAATGAAGCC
TTGTACAGAGCTGGGATCCATCCCCTTTCTCTCGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGG
TCCTGGTGGATCACGTGGTGGAGTTCAGTACAGCCTGGCTGCAGGGCAAGTTCCAAGGCAGACC
GCAGCACACACAGGTCTACCAGAAAGAACAGTGCCCTGCTGGCCACCAGGTCATGAAGGAGGCG
TTTGGGCCCGAAGATGGGTTACAGAGGCTCACCTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGT
CAGAGGAGCCAGAGCAGTGCCAGTTCTCCTAAGGAGCTGGTGGTGCTCCTCACGGAACCTTGCC
GCTTGGGGAACCTGACGTCTAAGTGTCCAGAAAGGAGGATGTGGGCAGGGACGGGGTACAGAGG
ATAGTGTGGGTCAGAGGTGCCAGTAGTATAATATTCGTCTCCCTGGAGTTATGTTGAAGGCAGA
GTTTTCATAGGGTTAGATTTTTTTTATCCTTTTCTAGTTCAGTTAATTCATCCTGTTGAATTGC
ACCATCGTGAAAGATGGGAAAAATCGTGATGATGGGTAAGGGGAAAACTTCCCGGAAGGCAATG
GGGCAAGGAAAAAGAAAGCCTATGGGAAATGGCTGTGCTCCCAACATAGCTTTGCAGATGATGT
GGGTTTTTTTTTTTTTTTTGGTTGTTTGTTTTGAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAG
GGTGTGGTGGTGTGATCTTGGCTCACGGCAGCCTTGCCCTCCCTGGCTCAAGCAGTCTTCATCT
CAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGATATGATGCTCGGCTGATTTTTGTTTACTT
TTTAGAGAGATGGGGTCTTGCCATATTTGCCAGGCTGGTTTGAACTCCTACAACTCAAGCATTC
CTCCCACCTTGGTCTCCCAAAATGTTGGGACCACGGGTGTGAGCCACCGCGCCCAGCTAGCTCC
TGTGTTTTGTTTTTGTTTTGTAACTTTGGTTGATGTTAAGGCCCTCCATTTTGGAAAGCAGGAA
AACAGGATTTTTTTTTTTTTATCTTGTTCCCTGGAGGATCCAGGGATGAGGATAGAGTGGCCTG
AGAGCAGTGCTTGGATTCAGCCTCCTGCTGGGTCCTTCTGCTGGATACAGGCACCAAGAGGCGG
TCGTGGAGCAGGGAGCTGCGCCTTCCTGGGGTGCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTT
TACTCCTTAAGTCAATGTATTGGTGACTGTTGATTTGTTGAACAATTCAGGAATCAAGGGCTGT
GGAGAAACTCCCTCATGTTGTTGGCAACAGGTGAATGAACCTAGAGCGGTGACATGAAAATAAA
GCTCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NM_001349441 ⟹ NP_001336370

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGTGAGTGCAGCCGCCCGCCCTCCGGTAGATCTGCGGCCTGGCGGAG
AAGTCGGGAGGGGACAGGAAGGGAGGGCGGGCCCCGGGCCCTCCTCCGTCTCAGCCGCCTGCGG
AGGTGCTGCCCACGCCTGGAGGCCCCCACTGACCCTCAGACCCGCGTCTGCGCCCCTCTCCCCG
CACCCCGAGGCAGAGTTGGGAAAGCAGTGGTCTTAGACCCCCCACCTCGGGCACTCGGAAGAGA
ACGGCGGAGACAACCCCTCCTCTTCCCTGGCTGGCGCAGCGCCAGCCTCGAGCTCCTCGGTAGC
CCCCGGGCAGGGAGGGCCGGAGGGTGGGCGCGGCATCTTCAGCGACTCTTCGAAGTCCCTTCCG
CGTCTCATCTTTCAAGGCTGTTGCAGAGGCGGCTTGCTTCCCACCTGTCCATCTCCATAAAAAT
CCCTAAACGAAACATGCCCACGTGTCCGGAGATTTTCAGGACTTGGTGCATTTCAGATGAAGGC
TTTTCCAGAAGCTTCCCCGTAGAAGAGGATCAGGCATCCAACTGGTTAAGGTCCATGGAAAGAA
ATTATTCCTTAGATTTGATCTAGATGAAGAAATGGGGCCCCCTGGCAGCAGCCCAACACCAGAG
CCTCCACAAAAAGAAGTGCAGAAGGAAGGGGCTGCGGACCCAAAGCAGGTCGGGGAGCCCAGCG
GGCAGAAGACCCTTGATGGATCCTCACGGTCTGCAGAGCTCGTCCCCCAGGGCGAGGATGATTC
TGAGTATTTGGAGAGAGACGCCCCTGCAGGAGATGCTGGGAGGTGGCTGCGTGTCAGCTTTGGT
TTGTTTGGCAGCGTTTGGGTGAACGATTTCTCCAGAGCCAAGAAAGCCAACAAGAGGGGGGACT
GGAGGGACCCTTCCCCGAGGTTGGTCCTGCACTTTGGTGGTGGTGGCTTCCTGGCATTTTATAA
TTGTCAGTTGTCTTGGAGCTCTTCCCCAGTGGTCACACCCACCTGTGACATCCTGTCTGAGAAG
TTCCATCGAGGACAAGCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGTCTGCTATACACTGCTGG
ACCAGAGATACTTCTCAGGGCTAGGGAACATCATTAAGAATGAAGCCTTGTACAGAGCTGGGAT
CCATCCCCTTTCTCTCGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGGTCCTGGTGGATCACGTG
GTGGAGTTCAGTACAGCCTGGCTGCAGGGCAAGTTCCAAGGCAGACCGCAGCACACACAGGTCT
ACCAGAAAGAACAGTGCCCTGCTGGCCACCAGGTCATGAAGGAGGCGTTTGGGCCCGAAGATGG
GTTACAGAGGCTCACCTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGTCAGAGGAGCCAGAGCAG
TGCCAGTTCTCCTAAGGAGCTGGTGGTGCTCCTCACGGAACCTTGCCGCTTGGGGAACCTGACG
TCTAAGTGTCCAGAAAGGAGGATGTGGGCAGGGACGGGGTACAGAGGATAGTGTGGGTCAGAGG
TGCCAGTAGTATAATATTCGTCTCCCTGGAGTTATGTTGAAGGCAGAGTTTTCATAGGGTTAGA
TTTTTTTTATCCTTTTCTAGTTCAGTTAATTCATCCTGTTGAATTGCACCATCGTGAAAGATGG
GAAAAATCGTGATGATGGGTAAGGGGAAAACTTCCCGGAAGGCAATGGGGCAAGGAAAAAGAAA
GCCTATGGGAAATGGCTGTGCTCCCAACATAGCTTTGCAGATGATGTGGGTTTTTTTTTTTTTT
TTGGTTGTTTGTTTTGAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAGGGTGTGGTGGTGTGATC
TTGGCTCACGGCAGCCTTGCCCTCCCTGGCTCAAGCAGTCTTCATCTCAGCCTCCAGAGTAGCT
GGGACTACAGGCATGTGATATGATGCTCGGCTGATTTTTGTTTACTTTTTAGAGAGATGGGGTC
TTGCCATATTTGCCAGGCTGGTTTGAACTCCTACAACTCAAGCATTCCTCCCACCTTGGTCTCC
CAAAATGTTGGGACCACGGGTGTGAGCCACCGCGCCCAGCTAGCTCCTGTGTTTTGTTTTTGTT
TTGTAACTTTGGTTGATGTTAAGGCCCTCCATTTTGGAAAGCAGGAAAACAGGATTTTTTTTTT
TTTATCTTGTTCCCTGGAGGATCCAGGGATGAGGATAGAGTGGCCTGAGAGCAGTGCTTGGATT
CAGCCTCCTGCTGGGTCCTTCTGCTGGATACAGGCACCAAGAGGCGGTCGTGGAGCAGGGAGCT
GCGCCTTCCTGGGGTGCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTTTACTCCTTAAGTCAATG
TATTGGTGACTGTTGATTTGTTGAACAATTCAGGAATCAAGGGCTGTGGAGAAACTCCCTCATG
TTGTTGGCAACAGGTGAATGAACCTAGAGCGGTGACATGAAAATAAAGCTCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NM_001349442 ⟹ NP_001336371

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGCTGTTGCAGAGGCGGCTTGCTTCCCACCTGTCCATCTCCATAAAA
ATCCCTAAACGAAACATGCCCACGTGTCCGGAGATTTTCAGGACTTGGTGCATTTCAGATGAAG
GCTTTTCCAGAAGCTTCCCCGTAGAAGAGGATCAGGCATCCAACTGGTTAAGGGATGCCAGAAG
GGCCGTTGGTGAGGAAATTTCACCATTTGGTCTCCCCCTTTGTGGGTCAGCAGGTGGTCAAGAC
AGGGGGCAGCAGTAAGAAGCTACAGCCCGCCAGCCTGCAGTCTCTGTGGCTCCAGGACACCCAG
GTCCATGGAAAGAAATTATTCCTTAGATTTGATCTAGATGAAGAAATGGGGCCCCCTGGCAGCA
GCCCAACACCAGAGCCTCCACAAAAAGAAGTGCAGAAGGAAGGGGCTGCGGACCCAAAGCAGGT
CGGGGAGCCCAGCGGGCAGAAGACCCTTGATGGATCCTCACGGTCTGCAGAGCTCGTCCCCCAG
GGCGAGGATGATTCTGAGTATTTGGAGAGAGACGCCCCTGCAGGAGATGCTGGGAGGTGGCTGC
GTGTCAGCTTTGGTTTGTTTGGCAGCGTTTGGGTGAACGATTTCTCCAGAGCCAAGAAAGCCAA
CAAGAGGGGGGACTGGAGGGACCCTTCCCCGAGGTTGGTCCTGCACTTTGGTGGTGGTGGCTTC
CTGGCATTTTATAATTGTCAGTTGTCTTGGAGCTCTTCCCCAGTGGTCACACCCACCTGTGACA
TCCTGTCTGAGAAGTTCCATCGAGGACAAGCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGTCTG
CTATACACTGCTGGACCAGAGATACTTCTCAGGGCTAGGGAACATCATTAAGAATGAAGCCTTG
TACAGAGCTGGGATCCATCCCCTTTCTCTCGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGGTCC
TGGTGGATCACGTGGTGGAGTTCAGTACAGCCTGGCTGCAGGGCAAGTTCCAAGGCAGACCGCA
GCACACACAGGTCTACCAGAAAGAACAGTGCCCTGCTGGCCACCAGGTCATGAAGGAGGCGTTT
GGGCCCGAAGATGGGTTACAGAGGCTCACCTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGTCAG
AGGAGCCAGAGCAGTGCCAGTTCTCCTAAGGAGCTGGTGGTGCTCCTCACGGAACCTTGCCGCT
TGGGGAACCTGACGTCTAAGTGTCCAGAAAGGAGGATGTGGGCAGGGACGGGGTACAGAGGATA
GTGTGGGTCAGAGGTGCCAGTAGTATAATATTCGTCTCCCTGGAGTTATGTTGAAGGCAGAGTT
TTCATAGGGTTAGATTTTTTTTATCCTTTTCTAGTTCAGTTAATTCATCCTGTTGAATTGCACC
ATCGTGAAAGATGGGAAAAATCGTGATGATGGGTAAGGGGAAAACTTCCCGGAAGGCAATGGGG
CAAGGAAAAAGAAAGCCTATGGGAAATGGCTGTGCTCCCAACATAGCTTTGCAGATGATGTGGG
TTTTTTTTTTTTTTTTGGTTGTTTGTTTTGAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAGGGT
GTGGTGGTGTGATCTTGGCTCACGGCAGCCTTGCCCTCCCTGGCTCAAGCAGTCTTCATCTCAG
CCTCCAGAGTAGCTGGGACTACAGGCATGTGATATGATGCTCGGCTGATTTTTGTTTACTTTTT
AGAGAGATGGGGTCTTGCCATATTTGCCAGGCTGGTTTGAACTCCTACAACTCAAGCATTCCTC
CCACCTTGGTCTCCCAAAATGTTGGGACCACGGGTGTGAGCCACCGCGCCCAGCTAGCTCCTGT
GTTTTGTTTTTGTTTTGTAACTTTGGTTGATGTTAAGGCCCTCCATTTTGGAAAGCAGGAAAAC
AGGATTTTTTTTTTTTTATCTTGTTCCCTGGAGGATCCAGGGATGAGGATAGAGTGGCCTGAGA
GCAGTGCTTGGATTCAGCCTCCTGCTGGGTCCTTCTGCTGGATACAGGCACCAAGAGGCGGTCG
TGGAGCAGGGAGCTGCGCCTTCCTGGGGTGCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTTTAC
TCCTTAAGTCAATGTATTGGTGACTGTTGATTTGTTGAACAATTCAGGAATCAAGGGCTGTGGA
GAAACTCCCTCATGTTGTTGGCAACAGGTGAATGAACCTAGAGCGGTGACATGAAAATAAAGCT
CACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NM_145043 ⟹ NP_659480

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
GRCh37	8	11,627,172 - 11,644,854 (+)	ENTREZGENE
Build 36	8	11,664,666 - 11,682,263 (+)	NCBI Archive
HuRef	8	10,558,132 - 10,575,813 (+)	ENTREZGENE
CHM1_1	8	11,692,655 - 11,710,334 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGTGAGTGCAGCCGCCCGCCCTCCGGTAGATCTGCGGCCTGGCGGAG
AAGTCGGGAGGGGACAGGAAGGGAGGGCGGGCCCCGGGCCCTCCTCCGTCTCAGCCGCCTGCGG
AGGTGCTGCCCACGCCTGGAGGCCCCCACTGACCCTCAGACCCGCGTCTGCGCCCCTCTCCCCG
CACCCCGAGGCAGAGTTGGGAAAGCAGTGGTCTTAGACCCCCCACCTCGGGCACTCGGAAGAGA
ACGGCGGAGACAACCCCTCCTCTTCCCTGGCTGGCGCAGCGCCAGCCTCGAGCTCCTCGGTAGC
CCCCGGGCAGGGAGGGCCGGAGGGTGGGCGCGGCATCTTCAGCGACTCTTCGAAGTCCCTTCCG
CGTCTCATCTTTCAAGGCTGTTGCAGAGGCGGCTTGCTTCCCACCTGTCCATCTCCATAAAAAT
CCCTAAACGAAACATGCCCACGTGTCCGGAGATTTTCAGGACTTGGTGCATTTCAGATGAAGGC
TTTTCCAGAAGCTTCCCCGTAGAAGAGGATCAGGCATCCAACTGGTTAAGGGATGCCAGAAGGG
CCGTTGGTGAGGAAATTTCACCATTTGGTCTCCCCCTTTGTGGGTCAGCAGGTGGTCAAGACAG
GGGGCAGCAGTAAGAAGCTACAGCCCGCCAGCCTGCAGTCTCTGTGGCTCCAGGACACCCAGGT
CCATGGAAAGAAATTATTCCTTAGATTTGATCTAGATGAAGAAATGGGGCCCCCTGGCAGCAGC
CCAACACCAGAGCCTCCACAAAAAGAAGTGCAGAAGGAAGGGGCTGCGGACCCAAAGCAGGTCG
GGGAGCCCAGCGGGCAGAAGACCCTTGATGGATCCTCACGGTCTGCAGAGCTCGTCCCCCAGGG
CGAGGATGATTCTGAGTATTTGGAGAGAGACGCCCCTGCAGGAGATGCTGGGAGGTGGCTGCGT
GTCAGCTTTGGTTTGTTTGGCAGCGTTTGGGTGAACGATTTCTCCAGAGCCAAGAAAGCCAACA
AGAGGGGGGACTGGAGGGACCCTTCCCCGAGGTTGGTCCTGCACTTTGGTGGTGGTGGCTTCCT
GGCATTTTATAATTGTCAGTTGTCTTGGAGCTCTTCCCCAGTGGTCACACCCACCTGTGACATC
CTGTCTGAGAAGTTCCATCGAGGACAAGCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGTCTGCT
ATACACTGCTGGACCAGAGATACTTCTCAGGGCTAGGGAACATCATTAAGAATGAAGCCTTGTA
CAGAGCTGGGATCCATCCCCTTTCTCTCGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGGTCCTG
GTGGATCACGTGGTGGAGTTCAGTACAGCCTGGCTGCAGGGCAAGTTCCAAGGCAGACCGCAGC
ACACACAGGTCTACCAGAAAGAACAGTGCCCTGCTGGCCACCAGGTCATGAAGGAGGCGTTTGG
GCCCGAAGATGGGTTACAGAGGCTCACCTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGTCAGAG
GAGCCAGAGCAGTGCCAGTTCTCCTAAGGAGCTGGTGGTGCTCCTCACGGAACCTTGCCGCTTG
GGGAACCTGACGTCTAAGTGTCCAGAAAGGAGGATGTGGGCAGGGACGGGGTACAGAGGATAGT
GTGGGTCAGAGGTGCCAGTAGTATAATATTCGTCTCCCTGGAGTTATGTTGAAGGCAGAGTTTT
CATAGGGTTAGATTTTTTTTATCCTTTTCTAGTTCAGTTAATTCATCCTGTTGAATTGCACCAT
CGTGAAAGATGGGAAAAATCGTGATGATGGGTAAGGGGAAAACTTCCCGGAAGGCAATGGGGCA
AGGAAAAAGAAAGCCTATGGGAAATGGCTGTGCTCCCAACATAGCTTTGCAGATGATGTGGGTT
TTTTTTTTTTTTTTGGTTGTTTGTTTTGAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAGGGTGT
GGTGGTGTGATCTTGGCTCACGGCAGCCTTGCCCTCCCTGGCTCAAGCAGTCTTCATCTCAGCC
TCCAGAGTAGCTGGGACTACAGGCATGTGATATGATGCTCGGCTGATTTTTGTTTACTTTTTAG
AGAGATGGGGTCTTGCCATATTTGCCAGGCTGGTTTGAACTCCTACAACTCAAGCATTCCTCCC
ACCTTGGTCTCCCAAAATGTTGGGACCACGGGTGTGAGCCACCGCGCCCAGCTAGCTCCTGTGT
TTTGTTTTTGTTTTGTAACTTTGGTTGATGTTAAGGCCCTCCATTTTGGAAAGCAGGAAAACAG
GATTTTTTTTTTTTTATCTTGTTCCCTGGAGGATCCAGGGATGAGGATAGAGTGGCCTGAGAGC
AGTGCTTGGATTCAGCCTCCTGCTGGGTCCTTCTGCTGGATACAGGCACCAAGAGGCGGTCGTG
GAGCAGGGAGCTGCGCCTTCCTGGGGTGCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTTTACTC
CTTAAGTCAATGTATTGGTGACTGTTGATTTGTTGAACAATTCAGGAATCAAGGGCTGTGGAGA
AACTCCCTCATGTTGTTGGCAACAGGTGAATGAACCTAGAGCGGTGACATGAAAATAAAGCTCA
CTGTTACTCGC

hide sequence

RefSeq Acc Id:

NR_146180

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGGATGCCAGAAGGGCCGTTGGTGAGGAAATTTCACCATTTGGTCTC
CCCCTTTGTGGGTCAGCAGGTGGTCAAGACAGGGGGCAGCAGTAAGAAGCTACAGCCCGCCAGC
CTGCAGTCTCTGTGGCTCCAGGACACCCAGGTCCATGGAAAGAAATTATTCCTTAGATTTGATC
TAGATGAAGAAATGGGGCCCCCTGGCAGCAGCCCAACACCAGAGCCTCCACAAAAAGAAGTGCA
GAAGGAAGGGGCTGCGGACCCAAAGCAGGTCGGGGAGCCCAGCGGGCAGAAGACCCTTGATGGA
TCCTCACGGTCTGCAGAGCTCGTCCCCCAGGGCGAGGATGATTCTGAGTATTTGGAGAGAGACG
CCCCTGCAGGAGATGCTGGGAGGTGGCTGCGTGTCAGCTTTGGTTTGTTTGGCAGCGTTTGGGT
GAACGATTTCTCCAGAGCCAAGAAAGCCAACAAGAGGGGGGACTGGAGGGACCCTTCCCCGAGG
TAATGGTGTGGCCATCTGATTTTCGTGGGCTCTGATAGTCATAGGGCCCTGCTTGGTGGGGTTT
GGGACTTCAGCAGTGGGGACATACTGAGGACGTCCAGTCTGCCCCCCAGGGCCCTGCTGTCTTG
GGGAGAGAGGCCACCTCTGTATCTACCTGTGATAGGAAGTAGACTGTGGTCTGCATGCAGGAGA
GGGTTGTGCACCAAGAGGTGGCTGGGAGAAGGGGAGAATTTTCCCAGCAAATGTGGCACTTGAG
GGGGGACTGTCCCTGAAGAACATTTTATTGCCTGACTCCTGACTAGTGTGCTTTGAATTTAGGG
AGAAGATTTTCCCAGTTTTATTTTAAGTATATTGTTTGTGTGTTTATTTTTTATTGAGATATAA
TTAACATTCAGTAGAATGCAGATCTTAAGTATTCAGCTTGATGAGTTTTTTTGCTTTGTTTTGA
GACGGAGTCTTGCTCTGTTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCGCCTCACTGCAACC
TCTGCCTCCCAGGTTCAACCAATTCTCCTGCCTTAGCCTCGGAGGAGCTGGGACTACAGGTTGG
TCCTGCACTTTGGTGGTGGTGGCTTCCTGGCATTTTATAATTGTCAGTTGTCTTGGAGCTCTTC
CCCAGTGGTCACACCCACCTGTGACATCCTGTCTGAGAAGTTCCATCGAGGACAAGCCTTAGAA
GCTCTAGGCCAGGCTCAGCCTGTCTGCTATACACTGCTGGACCAGAGATACTTCTCAGGGCTAG
GGAACATCATTAAGAATGAAGCCTTGTACAGAGCTGGGATCCATCCCCTTTCTCTCGGTTCAGT
CCTGAGTGCCTCGCGTCGGGAGGTCCTGGTGGATCACGTGGTGGAGTTCAGTACAGCCTGGCTG
CAGGGCAAGTTCCAAGGCAGACCGCAGCACACACAGGTCTACCAGAAAGAACAGTGCCCTGCTG
GCCACCAGGTCATGAAGGAGGCGTTTGGGCCCGAAGATGGGTTACAGAGGCTCACCTGGTGGTG
CCCGCAGTGCCAGCCCCAGTTGTCAGAGGAGCCAGAGCAGTGCCAGTTCTCCTAAGGAGCTGGT
GGTGCTCCTCACGGAACCTTGCCGCTTGGGGAACCTGACGTCTAAGTGTCCAGAAAGGAGGATG
TGGGCAGGGACGGGGTACAGAGGATAGTGTGGGTCAGAGGTGCCAGTAGTATAATATTCGTCTC
CCTGGAGTTATGTTGAAGGCAGAGTTTTCATAGGGTTAGATTTTTTTTATCCTTTTCTAGTTCA
GTTAATTCATCCTGTTGAATTGCACCATCGTGAAAGATGGGAAAAATCGTGATGATGGGTAAGG
GGAAAACTTCCCGGAAGGCAATGGGGCAAGGAAAAAGAAAGCCTATGGGAAATGGCTGTGCTCC
CAACATAGCTTTGCAGATGATGTGGGTTTTTTTTTTTTTTTTGGTTGTTTGTTTTGAGAGAGAG
TCTTGCTCTGTCTCCCTGGCTAGGGTGTGGTGGTGTGATCTTGGCTCACGGCAGCCTTGCCCTC
CCTGGCTCAAGCAGTCTTCATCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGATATGAT
GCTCGGCTGATTTTTGTTTACTTTTTAGAGAGATGGGGTCTTGCCATATTTGCCAGGCTGGTTT
GAACTCCTACAACTCAAGCATTCCTCCCACCTTGGTCTCCCAAAATGTTGGGACCACGGGTGTG
AGCCACCGCGCCCAGCTAGCTCCTGTGTTTTGTTTTTGTTTTGTAACTTTGGTTGATGTTAAGG
CCCTCCATTTTGGAAAGCAGGAAAACAGGATTTTTTTTTTTTTATCTTGTTCCCTGGAGGATCC
AGGGATGAGGATAGAGTGGCCTGAGAGCAGTGCTTGGATTCAGCCTCCTGCTGGGTCCTTCTGC
TGGATACAGGCACCAAGAGGCGGTCGTGGAGCAGGGAGCTGCGCCTTCCTGGGGTGCCCGGTGG
TGTGTAGAGAAAAGCTGCTTGTTTACTCCTTAAGTCAATGTATTGGTGACTGTTGATTTGTTGA
ACAATTCAGGAATCAAGGGCTGTGGAGAAACTCCCTCATGTTGTTGGCAACAGGTGAATGAACC
TAGAGCGGTGACATGAAAATAAAGCTCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NR_146181

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGCTGTTGCAGAGGCGGCTTGCTTCCCACCTGTCCATCTCCATAAAA
ATCCCTAAACGAAACATGCCCACGTGTCCGGAGATTTTCAGGACTTGGTGCATTTCAGATGAAG
GCTTTTCCAGAAGCTTCCCCGTAGAAGAGGATCAGGCATCCAACTGGTTAAGGGATGCCAGAAG
GGCCGTTGGTGAGGAAATTTCACCATTTGGTCTCCCCCTTTGTGGGTCAGCAGGTGGTCAAGAC
AGGGGGCAGCAGTAAGAAGCTACAGCCCGCCAGCCTGCAGTCTCTGTGGCTCCAGGACACCCAG
GTGAGGTCCATGGAAAGAAATTATTCCTTAGATTTGATCTAGATGAAGAAATGGGGCCCCCTGG
CAGCAGCCCAACACCAGAGCCTCCACAAAAAGAAGTGCAGAAGGAAGGGGCTGCGGACCCAAAG
CAGGTCGGGGAGCCCAGCGGGCAGAAGACCCTTGATGGATCCTCACGGTCTGCAGAGCTCGTCC
CCCAGGGCGAGGATGATTCTGAGTATTTGGAGAGAGACGCCCCTGCAGGAGATGCTGGGAGGTG
GCTGCGTGTCAGCTTTGGTTTGTTTGGCAGCGTTTGGGTGAACGATTTCTCCAGAGCCAAGAAA
GCCAACAAGAGGGGGGACTGGAGGGACCCTTCCCCGAGGTAATGGTGTGGCCATCTGATTTTCG
TGGGCTCTGATAGTCATAGGGCCCTGCTTGGTGGGGTTTGGGACTTCAGCAGTGGGGACATACT
GAGGACGTCCAGTCTGCCCCCCAGGGCCCTGCTGTCTTGGGGAGAGAGGCCACCTCTGTATCTA
CCTGTGATAGGAAGTAGACTGTGGTCTGCATGCAGGAGAGGGTTGTGCACCAAGAGGTGGCTGG
GAGAAGGGGAGAATTTTCCCAGCAAATGTGGCACTTGAGGGGGGACTGTCCCTGAAGAACATTT
TATTGCCTGACTCCTGACTAGTGTGCTTTGAATTTAGGGAGAAGATTTTCCCAGTTTTATTTTA
AGTATATTGTTTGTGTGTTTATTTTTTATTGAGATATAATTAACATTCAGTAGAATGCAGATCT
TAAGTATTCAGCTTGATGAGTTTTTTTGCTTTGTTTTGAGACGGAGTCTTGCTCTGTTGGCCCA
GGCTGGAGTGCAGTGGCACGATCTCGCCTCACTGCAACCTCTGCCTCCCAGGTTCAACCAATTC
TCCTGCCTTAGCCTCGGAGGAGCTGGGACTACAGGTTGGTCCTGCACTTTGGTGGTGGTGGCTT
CCTGGCATTTTATAATTGTCAGTTGTCTTGGAGCTCTTCCCCAGTGGTCACACCCACCTGTGAC
ATCCTGTCTGAGAAGTTCCATCGAGGACAAGCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGTCT
GCTATACACTGCTGGACCAGAGATACTTCTCAGGGCTAGGGAACATCATTAAGAATGAAGCCTT
GTACAGAGCTGGGATCCATCCCCTTTCTCTCGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGGTC
CTGGTGGATCACGTGGTGGAGTTCAGTACAGCCTGGCTGCAGGGCAAGTTCCAAGGCAGACCGC
AGCACACACAGGTCTACCAGAAAGAACAGTGCCCTGCTGGCCACCAGGTCATGAAGGAGGCGTT
TGGGCCCGAAGATGGGTTACAGAGGCTCACCTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGTCA
GAGGAGCCAGAGCAGTGCCAGTTCTCCTAAGGAGCTGGTGGTGCTCCTCACGGAACCTTGCCGC
TTGGGGAACCTGACGTCTAAGTGTCCAGAAAGGAGGATGTGGGCAGGGACGGGGTACAGAGGAT
AGTGTGGGTCAGAGGTGCCAGTAGTATAATATTCGTCTCCCTGGAGTTATGTTGAAGGCAGAGT
TTTCATAGGGTTAGATTTTTTTTATCCTTTTCTAGTTCAGTTAATTCATCCTGTTGAATTGCAC
CATCGTGAAAGATGGGAAAAATCGTGATGATGGGTAAGGGGAAAACTTCCCGGAAGGCAATGGG
GCAAGGAAAAAGAAAGCCTATGGGAAATGGCTGTGCTCCCAACATAGCTTTGCAGATGATGTGG
GTTTTTTTTTTTTTTTTGGTTGTTTGTTTTGAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAGGG
TGTGGTGGTGTGATCTTGGCTCACGGCAGCCTTGCCCTCCCTGGCTCAAGCAGTCTTCATCTCA
GCCTCCAGAGTAGCTGGGACTACAGGCATGTGATATGATGCTCGGCTGATTTTTGTTTACTTTT
TAGAGAGATGGGGTCTTGCCATATTTGCCAGGCTGGTTTGAACTCCTACAACTCAAGCATTCCT
CCCACCTTGGTCTCCCAAAATGTTGGGACCACGGGTGTGAGCCACCGCGCCCAGCTAGCTCCTG
TGTTTTGTTTTTGTTTTGTAACTTTGGTTGATGTTAAGGCCCTCCATTTTGGAAAGCAGGAAAA
CAGGATTTTTTTTTTTTTATCTTGTTCCCTGGAGGATCCAGGGATGAGGATAGAGTGGCCTGAG
AGCAGTGCTTGGATTCAGCCTCCTGCTGGGTCCTTCTGCTGGATACAGGCACCAAGAGGCGGTC
GTGGAGCAGGGAGCTGCGCCTTCCTGGGGTGCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTTTA
CTCCTTAAGTCAATGTATTGGTGACTGTTGATTTGTTGAACAATTCAGGAATCAAGGGCTGTGG
AGAAACTCCCTCATGTTGTTGGCAACAGGTGAATGAACCTAGAGCGGTGACATGAAAATAAAGC
TCACTGTTACTCGC

hide sequence

RefSeq Acc Id:

NR_146182

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,769,710 - 11,787,345 (+)	NCBI
T2T-CHM13v2.0	8	7,952,965 - 7,970,597 (-)	NCBI

Sequence:

show sequence

AAATCTCCGCCCCCAGCTGGAGCGGCTGTGCGGGCTGCGTAGCGGTGCTGGGTCGGGCCGACGT
GCCACCCACCCGGAGCCGGGATGCCAGAAGGGCCGTTGGTGAGGAAATTTCACCATTTGGTCTC
CCCCTTTGTGGGTCAGCAGGTGGTCAAGACAGGGGGCAGCAGTAAGAAGCTACAGCCCGCCAGC
CTGCAGTCTCTGTGGCTCCAGGACACCCAGGTTGGTCCTGCACTTTGGTGGTGGTGGCTTCCTG
GCATTTTATAATTGTCAGTTGTCTTGGAGCTCTTCCCCAGTGGTCACACCCACCTGTGACATCC
TGTCTGAGAAGTTCCATCGAGGACAAGCCTTAGAAGCTCTAGGCCAGGCTCAGCCTGTCTGCTA
TACACTGCTGGACCAGAGATACTTCTCAGGGCTAGGGAACATCATTAAGAATGAAGCCTTGTAC
AGAGCTGGGATCCATCCCCTTTCTCTCGGTTCAGTCCTGAGTGCCTCGCGTCGGGAGGTCCTGG
TGGATCACGTGGTGGAGTTCAGTACAGCCTGGCTGCAGGGCAAGTTCCAAGGCAGACCGCAGCA
CACACAGGTCTACCAGAAAGAACAGTGCCCTGCTGGCCACCAGGTCATGAAGGAGGCGTTTGGG
CCCGAAGATGGGTTACAGAGGCTCACCTGGTGGTGCCCGCAGTGCCAGCCCCAGTTGTCAGAGG
AGCCAGAGCAGTGCCAGTTCTCCTAAGGAGCTGGTGGTGCTCCTCACGGAACCTTGCCGCTTGG
GGAACCTGACGTCTAAGTGTCCAGAAAGGAGGATGTGGGCAGGGACGGGGTACAGAGGATAGTG
TGGGTCAGAGGTGCCAGTAGTATAATATTCGTCTCCCTGGAGTTATGTTGAAGGCAGAGTTTTC
ATAGGGTTAGATTTTTTTTATCCTTTTCTAGTTCAGTTAATTCATCCTGTTGAATTGCACCATC
GTGAAAGATGGGAAAAATCGTGATGATGGGTAAGGGGAAAACTTCCCGGAAGGCAATGGGGCAA
GGAAAAAGAAAGCCTATGGGAAATGGCTGTGCTCCCAACATAGCTTTGCAGATGATGTGGGTTT
TTTTTTTTTTTTTGGTTGTTTGTTTTGAGAGAGAGTCTTGCTCTGTCTCCCTGGCTAGGGTGTG
GTGGTGTGATCTTGGCTCACGGCAGCCTTGCCCTCCCTGGCTCAAGCAGTCTTCATCTCAGCCT
CCAGAGTAGCTGGGACTACAGGCATGTGATATGATGCTCGGCTGATTTTTGTTTACTTTTTAGA
GAGATGGGGTCTTGCCATATTTGCCAGGCTGGTTTGAACTCCTACAACTCAAGCATTCCTCCCA
CCTTGGTCTCCCAAAATGTTGGGACCACGGGTGTGAGCCACCGCGCCCAGCTAGCTCCTGTGTT
TTGTTTTTGTTTTGTAACTTTGGTTGATGTTAAGGCCCTCCATTTTGGAAAGCAGGAAAACAGG
ATTTTTTTTTTTTTATCTTGTTCCCTGGAGGATCCAGGGATGAGGATAGAGTGGCCTGAGAGCA
GTGCTTGGATTCAGCCTCCTGCTGGGTCCTTCTGCTGGATACAGGCACCAAGAGGCGGTCGTGG
AGCAGGGAGCTGCGCCTTCCTGGGGTGCCCGGTGGTGTGTAGAGAAAAGCTGCTTGTTTACTCC
TTAAGTCAATGTATTGGTGACTGTTGATTTGTTGAACAATTCAGGAATCAAGGGCTGTGGAGAA
ACTCCCTCATGTTGTTGGCAACAGGTGAATGAACCTAGAGCGGTGACATGAAAATAAAGCTCAC
TGTTACTCGC

hide sequence

Protein Sequences


Protein RefSeqs	NP_001129218	(Get FASTA)	NCBI Sequence Viewer
	NP_001129219	(Get FASTA)	NCBI Sequence Viewer
	NP_001129220	(Get FASTA)	NCBI Sequence Viewer
	NP_001336368	(Get FASTA)	NCBI Sequence Viewer
	NP_001336369	(Get FASTA)	NCBI Sequence Viewer
	NP_001336370	(Get FASTA)	NCBI Sequence Viewer
	NP_001336371	(Get FASTA)	NCBI Sequence Viewer
	NP_659480	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH13952	(Get FASTA)	NCBI Sequence Viewer
	AAH13964	(Get FASTA)	NCBI Sequence Viewer
	AAH45822	(Get FASTA)	NCBI Sequence Viewer
	AAP45052	(Get FASTA)	NCBI Sequence Viewer
	BAB71120	(Get FASTA)	NCBI Sequence Viewer
	BAC05030	(Get FASTA)	NCBI Sequence Viewer
	BAC06478	(Get FASTA)	NCBI Sequence Viewer
	BAG57528	(Get FASTA)	NCBI Sequence Viewer
	CAD97774	(Get FASTA)	NCBI Sequence Viewer
	EAW65623	(Get FASTA)	NCBI Sequence Viewer
	EAW65624	(Get FASTA)	NCBI Sequence Viewer
	EAW65625	(Get FASTA)	NCBI Sequence Viewer
	EAW65626	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000284503
	ENSP00000284503.6
	ENSP00000384070
	ENSP00000384070.3
	ENSP00000394023
	ENSP00000394023.2
	ENSP00000397538
	ENSP00000397538.2
	ENSP00000435657
	ENSP00000435657.1
	ENSP00000437004.1
	ENSP00000518488.1
	ENSP00000518489.1
	ENSP00000518490.1
	ENSP00000518491.1
	ENSP00000518492.1
	ENSP00000518493.1
GenBank Protein	Q969S2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_659480 ⟸ NM_145043
- Peptide Label:	isoform a
- UniProtKB:	Q8N842 (UniProtKB/Swiss-Prot), Q7Z3Q7 (UniProtKB/Swiss-Prot), B4DFR7 (UniProtKB/Swiss-Prot), Q8NG52 (UniProtKB/Swiss-Prot), Q969S2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPEGPLVRKFHHLVSPFVGQQVVKTGGSSKKLQPASLQSLWLQDTQVHGKKLFLRFDLDEEMGP PGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLERDAPAGDAG RWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNCQLSWSSSPVVTP TCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIHPLSLGSVLSASR REVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGLQRLTWWCPQCQP QLSEEPEQCQFS hide sequence

RefSeq Acc Id:	NP_001129220 ⟸ NM_001135748
- Peptide Label:	isoform c
- UniProtKB:	Q969S2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPEGPLVRKFHHLVSPFVGQQVVKTGGSSKKLQPASLQSLWLQDTQVRLVLHFGGGGFLAFYNC QLSWSSSPVVTPTCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIH PLSLGSVLSASRREVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGL QRLTWWCPQCQPQLSEEPEQCQFS hide sequence

RefSeq Acc Id:	NP_001129218 ⟸ NM_001135746
- Peptide Label:	isoform a
- UniProtKB:	Q8N842 (UniProtKB/Swiss-Prot), Q7Z3Q7 (UniProtKB/Swiss-Prot), B4DFR7 (UniProtKB/Swiss-Prot), Q8NG52 (UniProtKB/Swiss-Prot), Q969S2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPEGPLVRKFHHLVSPFVGQQVVKTGGSSKKLQPASLQSLWLQDTQVHGKKLFLRFDLDEEMGP PGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLERDAPAGDAG RWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNCQLSWSSSPVVTP TCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIHPLSLGSVLSASR REVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGLQRLTWWCPQCQP QLSEEPEQCQFS hide sequence

RefSeq Acc Id:	NP_001129219 ⟸ NM_001135747
- Peptide Label:	isoform b
- UniProtKB:	Q969S2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGPPGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLERDAPAG DAGRWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNCQLSWSSSPV VTPTCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIHPLSLGSVLS ASRREVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGLQRLTWWCPQ CQPQLSEEPEQCQFS hide sequence

RefSeq Acc Id:

NP_001336369 ⟸ NM_001349440

- Peptide Label:

isoform b

- Sequence:

show sequence

MGPPGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLERDAPAG
DAGRWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNCQLSWSSSPV
VTPTCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIHPLSLGSVLS
ASRREVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGLQRLTWWCPQ
CQPQLSEEPEQCQFS

hide sequence

RefSeq Acc Id:

NP_001336370 ⟸ NM_001349441

- Peptide Label:

isoform b

- Sequence:

show sequence

MGPPGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLERDAPAG
DAGRWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNCQLSWSSSPV
VTPTCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIHPLSLGSVLS
ASRREVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGLQRLTWWCPQ
CQPQLSEEPEQCQFS

hide sequence

RefSeq Acc Id:	NP_001336371 ⟸ NM_001349442
- Peptide Label:	isoform a
- UniProtKB:	Q969S2 (UniProtKB/Swiss-Prot), Q8N842 (UniProtKB/Swiss-Prot), Q7Z3Q7 (UniProtKB/Swiss-Prot), B4DFR7 (UniProtKB/Swiss-Prot), Q8NG52 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPEGPLVRKFHHLVSPFVGQQVVKTGGSSKKLQPASLQSLWLQDTQVHGKKLFLRFDLDEEMGP PGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLERDAPAGDAG RWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNCQLSWSSSPVVTP TCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIHPLSLGSVLSASR REVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGLQRLTWWCPQCQP QLSEEPEQCQFS hide sequence

RefSeq Acc Id:

NP_001336368 ⟸ NM_001349439

- Peptide Label:

isoform b

- Sequence:

show sequence

MGPPGSSPTPEPPQKEVQKEGAADPKQVGEPSGQKTLDGSSRSAELVPQGEDDSEYLERDAPAG
DAGRWLRVSFGLFGSVWVNDFSRAKKANKRGDWRDPSPRLVLHFGGGGFLAFYNCQLSWSSSPV
VTPTCDILSEKFHRGQALEALGQAQPVCYTLLDQRYFSGLGNIIKNEALYRAGIHPLSLGSVLS
ASRREVLVDHVVEFSTAWLQGKFQGRPQHTQVYQKEQCPAGHQVMKEAFGPEDGLQRLTWWCPQ
CQPQLSEEPEQCQFS

hide sequence

Ensembl Acc Id:

ENSP00000397538 ⟸ ENST00000455213

Ensembl Acc Id:

ENSP00000284503 ⟸ ENST00000284503

Ensembl Acc Id:

ENSP00000384070 ⟸ ENST00000403422

Ensembl Acc Id:

ENSP00000435657 ⟸ ENST00000528323

Ensembl Acc Id:

ENSP00000437004 ⟸ ENST00000528113

Ensembl Acc Id:

ENSP00000394023 ⟸ ENST00000436750

Protein Domains

FPG-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q969S2-F1-model_v2	AlphaFold	Q969S2	1-332	view protein structure

Promoters

RGD ID:

6806898

Promoter ID:

HG_KWN:60729

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_001135746, NM_001135747, NM_001135748, NM_145043

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	11,664,334 - 11,664,834 (+)	MPROMDB

RGD ID:

6806657

Promoter ID:

HG_KWN:60730

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000354579, ENST00000382309

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	11,665,411 - 11,665,911 (+)	MPROMDB

RGD ID:

7212651

Promoter ID:

EPDNEW_H12071

Type:

initiation region

Name:

NEIL2_1

Description:

nei like DNA glycosylase 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	11,769,718 - 11,769,778	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18956	AgrOrtholog
COSMIC	NEIL2	COSMIC
Ensembl Genes	ENSG00000154328	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000292286	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000284503	ENTREZGENE
	ENST00000284503.7	UniProtKB/Swiss-Prot
	ENST00000403422	ENTREZGENE
	ENST00000403422.7	UniProtKB/Swiss-Prot
	ENST00000436750	ENTREZGENE
	ENST00000436750.7	UniProtKB/Swiss-Prot
	ENST00000455213	ENTREZGENE
	ENST00000455213.6	UniProtKB/Swiss-Prot
	ENST00000528113.5	UniProtKB/TrEMBL
	ENST00000528323	ENTREZGENE
	ENST00000528323.5	UniProtKB/Swiss-Prot
	ENST00000710791.1	UniProtKB/Swiss-Prot
	ENST00000710792.1	UniProtKB/Swiss-Prot
	ENST00000710793.1	UniProtKB/Swiss-Prot
	ENST00000710794.1	UniProtKB/Swiss-Prot
	ENST00000710795.1	UniProtKB/Swiss-Prot
	ENST00000710796.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.8.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000154328	GTEx
	ENSG00000292286	GTEx
HGNC ID	HGNC:18956	ENTREZGENE
Human Proteome Map	NEIL2	Human Proteome Map
InterPro	DNA_glyclase/AP_lyase_DNA-bd	UniProtKB/Swiss-Prot
	FPG_cat	UniProtKB/Swiss-Prot
	Ribosomal_S13-like_H2TH	UniProtKB/Swiss-Prot
	Znf_DNA_glyclase/AP_lyase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:252969	UniProtKB/Swiss-Prot
NCBI Gene	252969	ENTREZGENE
OMIM	608933	OMIM
PANTHER	ENDONUCLEASE 8-LIKE 2	UniProtKB/Swiss-Prot
	FORMAMIDOPYRIMIDINE-DNA GLYCOSYLASE	UniProtKB/Swiss-Prot
Pfam	H2TH	UniProtKB/Swiss-Prot
PharmGKB	PA38769	PharmGKB
PROSITE	FPG_CAT	UniProtKB/Swiss-Prot
	ZF_FPG_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	H2TH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46946	UniProtKB/Swiss-Prot
UniProt	B4DFR7	ENTREZGENE
	E9PPL4_HUMAN	UniProtKB/TrEMBL
	NEIL2_HUMAN	UniProtKB/Swiss-Prot
	Q3ZCR7_HUMAN	UniProtKB/TrEMBL
	Q7Z3Q7	ENTREZGENE
	Q8N842	ENTREZGENE
	Q8NG52	ENTREZGENE
	Q969S2	ENTREZGENE
UniProt Secondary	B4DFR7	UniProtKB/Swiss-Prot
	Q7Z3Q7	UniProtKB/Swiss-Prot
	Q8N842	UniProtKB/Swiss-Prot
	Q8NG52	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-26	NEIL2	nei like DNA glycosylase 2	NEIL2	nei-like DNA glycosylase 2	Symbol and/or name change	5135510	APPROVED
2015-06-30	NEIL2	nei-like DNA glycosylase 2	NEIL2	nei endonuclease VIII-like 2 (E. coli)	Symbol and/or name change	5135510	APPROVED
2011-07-27	NEIL2	nei endonuclease VIII-like 2 (E. coli)	NEIL2	nei like 2 (E. coli)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar