NELL1 (neural EGFL like 1) - Rat Genome Database

Name: NELL1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: NELL1 (neural EGFL like 1) Homo sapiens

Analyze

Symbol:

NELL1

Name:

neural EGFL like 1

RGD ID:

733264

HGNC Page

HGNC:7750

Description:

Predicted to enable heparin binding activity and protein kinase C binding activity. Involved in several processes, including negative regulation of osteoblast proliferation; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Located in nuclear envelope and perinuclear region of cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ45906; IDH3GL; isocitrate dehydrogenase 3 (NAD+) gamma-like; NEL-like protein 1; nel-related protein 1; NELL-1 protein short isoform; neural epidermal growth factor-like 1; NRP1; protein kinase C-binding protein NELL1

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

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):	Nell1 (NEL-like 1)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Nell1 (neural EGFL like 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Nell1 (neural EGFL like 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NELL1 (neural EGFL like 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	NELL1 (neural EGFL like 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Nell1 (neural EGFL like 1)	NCBI	Ortholog
Sus scrofa (pig):	NELL1 (neural EGFL like 1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	NELL1 (neural EGFL like 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Nell1 (neural EGFL like 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Nell2 (NEL-like 2)	HGNC	OrthoDB, OrthoMCL
Rattus norvegicus (Norway rat):	Nell2 (neural EGFL like 2)	HGNC	OrthoDB
Canis lupus familiaris (dog):	NELL2 (neural EGFL like 2)	HGNC	OrthoDB
Sus scrofa (pig):	NELL2 (neural EGFL like 2)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Nell1 (neural EGFL like 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Nell1 (NEL-like 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	11	20,669,551 - 21,575,686 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	11	20,669,551 - 21,575,686 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	20,691,097 - 21,597,232 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	20,647,712 - 21,553,577 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	20,647,711 - 21,553,576	NCBI
Celera	11	20,823,987 - 21,729,999 (+)	NCBI		Celera
Cytogenetic Map	11	p15.1	NCBI
HuRef	11	20,382,761 - 21,279,982 (+)	NCBI		HuRef
CHM1_1	11	20,691,076 - 21,597,225 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	20,790,315 - 21,696,309 (+)	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

craniosynostosis (EXP,ISO)

esophagus adenocarcinoma (EXP)

genetic disease (IAGP)

intellectual disability (IAGP)

prostate cancer (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (EXP,ISO)

17beta-estradiol (ISO)

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

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

2-methylcholine (EXP)

3,4-methylenedioxymethamphetamine (ISO)

4,4'-sulfonyldiphenol (ISO)

5-aza-2'-deoxycytidine (EXP)

7,12-dimethyltetraphene (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

antirheumatic drug (EXP)

arsenite(3-) (EXP)

atrazine (ISO)

bathocuproine disulfonic acid (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

Butylbenzyl phthalate (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

copper(II) sulfate (EXP)

decabromodiphenyl ether (ISO)

dibutyl phthalate (ISO)

dichlorine (ISO)

diethyl phthalate (ISO)

diisobutyl phthalate (ISO)

diisononyl phthalate (ISO)

dorsomorphin (EXP)

ethanol (ISO)

flavonoids (ISO)

fonofos (EXP)

genistein (EXP)

hypochlorous acid (ISO)

ionomycin (EXP)

methylmercury chloride (EXP)

N,N-diethyl-m-toluamide (ISO)

ozone (ISO)

panobinostat (EXP)

paracetamol (EXP)

paraquat (ISO)

parathion (EXP)

permethrin (ISO)

phorbol 13-acetate 12-myristate (EXP)

profenofos (ISO)

pyrrolidine dithiocarbamate (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

silicon dioxide (ISO)

sodium arsenite (EXP)

terbufos (EXP)

triclosan (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

negative regulation of osteoblast proliferation (IDA)

negative regulation of protein catabolic process (IDA)

nervous system development (TAS)

phosphorylation (IEA)

positive regulation of apoptotic process (ISO)

positive regulation of bone mineralization (IDA)

positive regulation of ossification (IBA,ISO)

positive regulation of osteoblast differentiation (IDA)

regulation of gene expression (IDA)

regulation of osteoblast differentiation (IBA,ISO)

Cellular Component

cellular anatomical entity (IEA)

cytoplasm (IBA,IDA)

cytoplasm (IDA,IEA)

cytoplasm (ISO)

extracellular region (IEA)

extracellular space (IBA,ISO)

nuclear envelope (IDA,IEA)

nucleus (IEA)

perinuclear region of cytoplasm (IDA)

Molecular Function

calcium ion binding (IEA)

heparin binding (IBA,ISO)

identical protein binding (ISO)

kinase activity (IEA)

protein binding (IPI)

protein kinase C binding (IBA,ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability (IAGP)

Prostate cancer (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
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
4.	Craniosynostosis in transgenic mice overexpressing Nell-1.	Zhang X, etal., J Clin Invest 2002 Sep;110(6):861-70.

Additional References at PubMed

PMID:7757816	PMID:8975702	PMID:9893069	PMID:10231576	PMID:10548494	PMID:11803583	PMID:12477932	PMID:14659887	PMID:14702039	PMID:15124103	PMID:15489334	PMID:16344560
PMID:16713569	PMID:17042739	PMID:17452981	PMID:17684544	PMID:18082140	PMID:18519826	PMID:18987618	PMID:19174780	PMID:19422935	PMID:19913121	PMID:20200953	PMID:20379614
PMID:20628086	PMID:20647499	PMID:20800603	PMID:20959151	PMID:21078624	PMID:21472827	PMID:21615216	PMID:21653829	PMID:21723284	PMID:21873635	PMID:21902605	PMID:21931789
PMID:22264144	PMID:22379998	PMID:22495925	PMID:22580275	PMID:22767336	PMID:22797704	PMID:22823124	PMID:22952603	PMID:23017834	PMID:23251661	PMID:23400010	PMID:24189400
PMID:24324551	PMID:24335144	PMID:24563467	PMID:25220281	PMID:25726761	PMID:25791475	PMID:26082355	PMID:26090379	PMID:26627376	PMID:26700847	PMID:26772960	PMID:28380437
PMID:28463604	PMID:28514442	PMID:29117863	PMID:30091681	PMID:30272321	PMID:30628703	PMID:30700556	PMID:30979495	PMID:31343991	PMID:31416616	PMID:31901340	PMID:32296183
PMID:32828756	PMID:33961781	PMID:34201046	PMID:34238763	PMID:34505967	PMID:34647317	PMID:34890556	PMID:35194125	PMID:35700263	PMID:35940226	PMID:36175952

Genomics

Comparative Map Data

NELL1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	20,669,551 - 21,575,686 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	11	20,669,551 - 21,575,686 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	20,691,097 - 21,597,232 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	20,647,712 - 21,553,577 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	20,647,711 - 21,553,576	NCBI
Celera	11	20,823,987 - 21,729,999 (+)	NCBI		Celera
Cytogenetic Map	11	p15.1	NCBI
HuRef	11	20,382,761 - 21,279,982 (+)	NCBI		HuRef
CHM1_1	11	20,691,076 - 21,597,225 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	20,790,315 - 21,696,309 (+)	NCBI		T2T-CHM13v2.0

Nell1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	49,625,098 - 50,513,037 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	49,624,612 - 50,516,356 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	49,975,350 - 50,863,289 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	49,974,864 - 50,866,608 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	57,230,720 - 58,118,659 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	39,598,885 - 40,491,802 (+)	NCBI		MGSCv36	mm8
MGSCv36	7	49,843,371 - 50,731,308 (+)	NCBI		MGSCv36	mm8
Celera	7	45,425,847 - 46,113,619 (+)	NCBI		Celera
Cytogenetic Map	7	B4	NCBI

Nell1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	1	99,709,305 - 100,573,872 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	99,709,793 - 100,573,860 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	105,063,381 - 105,953,646 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	1	113,535,301 - 114,425,557 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	1	106,857,549 - 107,748,146 (+)	NCBI	Rnor_WKY
Rnor_6.0	1	105,348,577 - 106,218,970 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	105,349,069 - 106,218,958 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	106,397,933 - 107,260,905 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	99,805,922 - 100,758,002 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	100,639,657 - 100,836,113 (+)	NCBI
Celera	1	93,902,928 - 94,754,650 (+)	NCBI		Celera
Cytogenetic Map	1	q22	NCBI

Nell1
(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_004955476	1,445,353 - 2,233,146 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955476	1,445,234 - 2,236,954 (+)	NCBI	ChiLan1.0	ChiLan1.0

NELL1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	11	20,607,371 - 21,508,938 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	20,607,526 - 21,508,486 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	11	20,697,153 - 21,600,601 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

NELL1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	42,654,925 - 43,468,806 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	42,656,339 - 43,468,806 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	42,126,909 - 42,948,580 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	43,772,115 - 44,588,353 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	43,772,165 - 44,596,808 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	42,773,602 - 43,589,728 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	42,949,431 - 43,761,387 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	43,331,499 - 44,154,079 (+)	NCBI		UU_Cfam_GSD_1.0

Nell1
(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_024404947	41,532,506 - 42,335,524 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936654	1,591,847 - 2,394,692 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936654	1,591,016 - 2,392,496 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NELL1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	37,809,008 - 38,754,525 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	37,809,080 - 38,754,520 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	41,071,490 - 41,565,325 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NELL1
(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	1	43,416,052 - 44,335,894 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	43,415,553 - 44,335,381 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	140,734,465 - 141,671,260 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nell1
(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_004624766	11,921,650 - 12,737,576 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624766	11,921,570 - 12,734,032 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NELL1
39 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
NM_006157.4(NELL1):c.366G>A (p.Arg122=)	single nucleotide variant	Malignant melanoma [RCV000069291]	Chr11:20847613 [GRCh38] Chr11:20869159 [GRCh37] Chr11:20825735 [NCBI36] Chr11:11p15.1	not provided
NM_006157.4(NELL1):c.1770C>T (p.Ser590=)	single nucleotide variant	Malignant melanoma [RCV000069295]	Chr11:21534498 [GRCh38] Chr11:21556044 [GRCh37] Chr11:21512620 [NCBI36] Chr11:11p15.1	not provided
NM_006157.4(NELL1):c.1874C>T (p.Pro625Leu)	single nucleotide variant	Malignant melanoma [RCV000069296]	Chr11:21560276 [GRCh38] Chr11:21581822 [GRCh37] Chr11:21538398 [NCBI36] Chr11:11p15.1	not provided
NM_001288713.1(NELL1):c.269-51279A>G	single nucleotide variant	Lung cancer [RCV000109906]	Chr11:20732401 [GRCh38] Chr11:20753947 [GRCh37] Chr11:11p15.1	uncertain significance
NM_001288713.1(NELL1):c.269-29192C>G	single nucleotide variant	Lung cancer [RCV000109907]	Chr11:20754488 [GRCh38] Chr11:20776034 [GRCh37] Chr11:11p15.1	uncertain significance
NM_001288713.1(NELL1):c.1082-3051C>A	single nucleotide variant	Lung cancer [RCV000109908]	Chr11:20934735 [GRCh38] Chr11:20956281 [GRCh37] Chr11:11p15.1	uncertain significance
NM_001288713.1(NELL1):c.1729+2222C>T	single nucleotide variant	Lung cancer [RCV000109909]	Chr11:21373170 [GRCh38] Chr11:21394716 [GRCh37] Chr11:11p15.1	uncertain significance
NM_001288713.1(NELL1):c.1730-33710A>C	single nucleotide variant	Lung cancer [RCV000109910]	Chr11:21500664 [GRCh38] Chr11:21522210 [GRCh37] Chr11:11p15.1	uncertain significance
NM_001288713.1(NELL1):c.1870+406C>T	single nucleotide variant	Lung cancer [RCV000109911]	Chr11:21534920 [GRCh38] Chr11:21556466 [GRCh37] Chr11:11p15.1	uncertain significance
NM_001288713.1(NELL1):c.1870+2919A>G	single nucleotide variant	Lung cancer [RCV000109912]	Chr11:21537433 [GRCh38] Chr11:21558979 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1666G>T (p.Gly556Ter)	single nucleotide variant	Malignant tumor of prostate [RCV000149181]	Chr11:21534394 [GRCh38] Chr11:21555940 [GRCh37] Chr11:11p15.1	uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	copy number gain	See cases [RCV000134932]	Chr11:18526222..20748125 [GRCh38] Chr11:18547769..20769671 [GRCh37] Chr11:18504345..20726247 [NCBI36] Chr11:11p15.1	uncertain significance
GRCh38/hg38 11p15.1(chr11:21353203-21473909)x1	copy number loss	See cases [RCV000135708]	Chr11:21353203..21473909 [GRCh38] Chr11:21374749..21495455 [GRCh37] Chr11:21331325..21452031 [NCBI36] Chr11:11p15.1	uncertain significance
GRCh38/hg38 11p15.1(chr11:21145518-21564644)x1	copy number loss	See cases [RCV000141624]	Chr11:21145518..21564644 [GRCh38] Chr11:21167064..21586190 [GRCh37] Chr11:21123640..21542766 [NCBI36] Chr11:11p15.1	uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	copy number loss	See cases [RCV000142499]	Chr11:20079474..34463996 [GRCh38] Chr11:20101020..34485543 [GRCh37] Chr11:20057596..34442119 [NCBI36] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	copy number loss	Aniridia 1 [RCV000420782]	Chr11:18536224..31923308 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400]	Chr11:21586131..33168232 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p15.1(chr11:20821609-20875957)x1	copy number loss	See cases [RCV000446021]	Chr11:20821609..20875957 [GRCh37] Chr11:11p15.1	uncertain significance
GRCh37/hg19 11p15.1(chr11:21348110-21403143)x1	copy number loss	See cases [RCV000448498]	Chr11:21348110..21403143 [GRCh37] Chr11:11p15.1	likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	See cases [RCV000511561]	Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	copy number gain	See cases [RCV000512225]	Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3	pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	See cases [RCV000512477]	Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.1-14.3(chr11:21482932-21753111)x1	copy number loss	not provided [RCV000683323]	Chr11:21482932..21753111 [GRCh37] Chr11:11p15.1-14.3	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.1(chr11:20845222-20849758)x1	copy number loss	not provided [RCV000737456]	Chr11:20845222..20849758 [GRCh37] Chr11:11p15.1	benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.1(chr11:21188910-21215845)x1	copy number loss	not provided [RCV000749973]	Chr11:21188910..21215845 [GRCh37] Chr11:11p15.1	benign
GRCh37/hg19 11p15.1(chr11:21401298-21420432)x1	copy number loss	not provided [RCV000749974]	Chr11:21401298..21420432 [GRCh37] Chr11:11p15.1	benign
GRCh37/hg19 11p15.1(chr11:21423197-21424757)x1	copy number loss	not provided [RCV000749975]	Chr11:21423197..21424757 [GRCh37] Chr11:11p15.1	benign
GRCh37/hg19 11p15.1(chr11:21469913-21480256)x3	copy number gain	not provided [RCV000749976]	Chr11:21469913..21480256 [GRCh37] Chr11:11p15.1	benign
GRCh37/hg19 11p15.1-14.3(chr11:21560094-21738350)x3	copy number gain	not provided [RCV000749977]	Chr11:21560094..21738350 [GRCh37] Chr11:11p15.1-14.3	benign
NM_006157.5(NELL1):c.1617T>A (p.Ser539=)	single nucleotide variant	not provided [RCV000961174]	Chr11:21370920 [GRCh38] Chr11:21392466 [GRCh37] Chr11:11p15.1	likely benign
NM_006157.5(NELL1):c.859G>A (p.Val287Ile)	single nucleotide variant	not provided [RCV000947337]	Chr11:20927407 [GRCh38] Chr11:20948953 [GRCh37] Chr11:11p15.1	benign
NM_006157.5(NELL1):c.1671C>T (p.Ile557=)	single nucleotide variant	not provided [RCV000901054]	Chr11:21534399 [GRCh38] Chr11:21555945 [GRCh37] Chr11:11p15.1	likely benign
NM_006157.5(NELL1):c.756A>T (p.Ala252=)	single nucleotide variant	not provided [RCV000897517]	Chr11:20919331 [GRCh38] Chr11:20940877 [GRCh37] Chr11:11p15.1	benign
NM_006157.5(NELL1):c.631T>G (p.Phe211Val)	single nucleotide variant	not provided [RCV000947336]	Chr11:20918209 [GRCh38] Chr11:20939755 [GRCh37] Chr11:11p15.1	benign
NM_006157.5(NELL1):c.932C>T (p.Pro311Leu)	single nucleotide variant	not provided [RCV000949772]	Chr11:20928414 [GRCh38] Chr11:20949960 [GRCh37] Chr11:11p15.1	likely benign
NM_006157.5(NELL1):c.1906C>T (p.His636Tyr)	single nucleotide variant	not provided [RCV000882453]	Chr11:21560308 [GRCh38] Chr11:21581854 [GRCh37] Chr11:11p15.1	benign
NM_006157.5(NELL1):c.457G>A (p.Ala153Thr)	single nucleotide variant	not provided [RCV000892484]	Chr11:20847704 [GRCh38] Chr11:20869250 [GRCh37] Chr11:11p15.1	benign
NM_006157.5(NELL1):c.1737C>T (p.Ser579=)	single nucleotide variant	not provided [RCV000958620]	Chr11:21534465 [GRCh38] Chr11:21556011 [GRCh37] Chr11:11p15.1	likely benign
GRCh37/hg19 11p15.1-14.3(chr11:21416074-21885376)x3	copy number gain	not provided [RCV000848086]	Chr11:21416074..21885376 [GRCh37] Chr11:11p15.1-14.3	uncertain significance
GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4	copy number gain	not provided [RCV000847535]	Chr11:21370750..23441691 [GRCh37] Chr11:11p15.1-14.3	uncertain significance
GRCh37/hg19 11p15.1(chr11:20792281-21073130)x1	copy number loss	not provided [RCV000846389]	Chr11:20792281..21073130 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1815C>T (p.His605=)	single nucleotide variant	not provided [RCV000895914]	Chr11:21560217 [GRCh38] Chr11:21581763 [GRCh37] Chr11:11p15.1	benign
GRCh37/hg19 11p15.1-14.3(chr11:21369307-21923060)x3	copy number gain	not provided [RCV000846354]	Chr11:21369307..21923060 [GRCh37] Chr11:11p15.1-14.3	uncertain significance
GRCh37/hg19 11p15.1(chr11:20490837-20879157)x3	copy number gain	not provided [RCV001006392]	Chr11:20490837..20879157 [GRCh37] Chr11:11p15.1	uncertain significance
GRCh37/hg19 11p15.1(chr11:21125532-21154364)x1	copy number loss	not provided [RCV000846142]	Chr11:21125532..21154364 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.577C>T (p.Arg193Cys)	single nucleotide variant	not provided [RCV000963275]	Chr11:20885514 [GRCh38] Chr11:20907060 [GRCh37] Chr11:11p15.1	benign
NM_006157.5(NELL1):c.1160G>A (p.Arg387His)	single nucleotide variant	not provided [RCV000886221]	Chr11:20947424 [GRCh38] Chr11:20968970 [GRCh37] Chr11:11p15.1	benign
NM_006157.5(NELL1):c.1447G>A (p.Gly483Ser)	single nucleotide variant	not provided [RCV000889917]	Chr11:21229352 [GRCh38] Chr11:21250898 [GRCh37] Chr11:11p15.1	benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	copy number gain	not provided [RCV001006387]	Chr11:11053978..34732891 [GRCh37] Chr11:11p15.3-13	pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	copy number gain	not provided [RCV001006388]	Chr11:13970757..27565888 [GRCh37] Chr11:11p15.2-14.1	pathogenic
GRCh37/hg19 11p15.1(chr11:20641021-20842894)x3	copy number gain	not provided [RCV001259580]	Chr11:20641021..20842894 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1004G>A (p.Cys335Tyr)	single nucleotide variant	not provided [RCV001311742]	Chr11:20937792 [GRCh38] Chr11:20959338 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.677-7T>C	single nucleotide variant	not specified [RCV001733634]	Chr11:20919245 [GRCh38] Chr11:20940791 [GRCh37] Chr11:11p15.1	likely benign
NM_006157.5(NELL1):c.854C>G (p.Ser285Cys)	single nucleotide variant	not specified [RCV001733635]	Chr11:20927402 [GRCh38] Chr11:20948948 [GRCh37] Chr11:11p15.1	uncertain significance
GRCh37/hg19 11p15.1-14.3(chr11:21369308-21917565)x3	copy number gain	not provided [RCV001832962]	Chr11:21369308..21917565 [GRCh37] Chr11:11p15.1-14.3	uncertain significance
GRCh37/hg19 11p15.1(chr11:20821609-20875957)	copy number loss	not specified [RCV002052916]	Chr11:20821609..20875957 [GRCh37] Chr11:11p15.1	uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	copy number gain	See cases [RCV002286351]	Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2	pathogenic
NM_006157.5(NELL1):c.2404G>A (p.Val802Met)	single nucleotide variant	Inborn genetic diseases [RCV002997491]	Chr11:21574993 [GRCh38] Chr11:21596539 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.598T>C (p.Phe200Leu)	single nucleotide variant	Inborn genetic diseases [RCV002992158]	Chr11:20885535 [GRCh38] Chr11:20907081 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.923C>T (p.Ser308Phe)	single nucleotide variant	Inborn genetic diseases [RCV002901301]	Chr11:20928405 [GRCh38] Chr11:20949951 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.73G>A (p.Asp25Asn)	single nucleotide variant	Inborn genetic diseases [RCV002865587]	Chr11:20677949 [GRCh38] Chr11:20699495 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1493A>G (p.Gln498Arg)	single nucleotide variant	Inborn genetic diseases [RCV002706985]	Chr11:21229398 [GRCh38] Chr11:21250944 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.539C>T (p.Thr180Ile)	single nucleotide variant	Inborn genetic diseases [RCV002784080]	Chr11:20885476 [GRCh38] Chr11:20907022 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.909A>C (p.Glu303Asp)	single nucleotide variant	Inborn genetic diseases [RCV002977682]	Chr11:20928391 [GRCh38] Chr11:20949937 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.901G>A (p.Ala301Thr)	single nucleotide variant	Inborn genetic diseases [RCV002888755]	Chr11:20928383 [GRCh38] Chr11:20949929 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.2323C>T (p.Arg775Trp)	single nucleotide variant	Inborn genetic diseases [RCV002701941]	Chr11:21573350 [GRCh38] Chr11:21594896 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1146G>C (p.Glu382Asp)	single nucleotide variant	Inborn genetic diseases [RCV002641615]	Chr11:20947410 [GRCh38] Chr11:20968956 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.376C>T (p.Arg126Trp)	single nucleotide variant	Inborn genetic diseases [RCV002641552]	Chr11:20847623 [GRCh38] Chr11:20869169 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1508C>T (p.Thr503Ile)	single nucleotide variant	Inborn genetic diseases [RCV002984420]	Chr11:21229413 [GRCh38] Chr11:21250959 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1270T>G (p.Ser424Ala)	single nucleotide variant	Inborn genetic diseases [RCV002935586]	Chr11:20960530 [GRCh38] Chr11:20982076 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.124A>G (p.Thr42Ala)	single nucleotide variant	Inborn genetic diseases [RCV002936113]	Chr11:20678000 [GRCh38] Chr11:20699546 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.244C>T (p.Arg82Trp)	single nucleotide variant	Inborn genetic diseases [RCV002960384]	Chr11:20783739 [GRCh38] Chr11:20805285 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.664A>G (p.Asn222Asp)	single nucleotide variant	Inborn genetic diseases [RCV002652351]	Chr11:20918242 [GRCh38] Chr11:20939788 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.1267A>G (p.Ile423Val)	single nucleotide variant	Inborn genetic diseases [RCV002723802]	Chr11:20960527 [GRCh38] Chr11:20982073 [GRCh37] Chr11:11p15.1	uncertain significance
NM_006157.5(NELL1):c.154C>T (p.His52Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002679208]	Chr11:20678030 [GRCh38] Chr11:20699576 [GRCh37] Chr11:11p15.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1327
Count of miRNA genes:	768
Interacting mature miRNAs:	859
Transcripts:	ENST00000298925, ENST00000325319, ENST00000357134, ENST00000524738, ENST00000527873, ENST00000528046, ENST00000528495, ENST00000529218, ENST00000529595, ENST00000530672, ENST00000532434, ENST00000534263
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

D11S4434

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	20,905,419 - 20,905,586	UniSTS	GRCh37
Build 36	11	20,861,995 - 20,862,162	RGD	NCBI36
Celera	11	21,037,960 - 21,038,127	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,588,324 - 20,588,491	UniSTS
Whitehead-YAC Contig Map	11		UniSTS

RH98598

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,281,688 - 21,281,834	UniSTS	GRCh37
Build 36	11	21,238,264 - 21,238,410	RGD	NCBI36
Celera	11	21,414,486 - 21,414,632	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,964,467 - 20,964,613	UniSTS
GeneMap99-GB4 RH Map	11	81.76	UniSTS

SHGC-81017

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,461,362 - 21,461,634	UniSTS	GRCh37
Build 36	11	21,417,938 - 21,418,210	RGD	NCBI36
Celera	11	21,594,124 - 21,594,396	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,144,122 - 21,144,394	UniSTS
TNG Radiation Hybrid Map	11	10326.0	UniSTS

RH122207

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,450,854 - 21,451,132	UniSTS	GRCh37
Build 36	11	21,407,430 - 21,407,708	RGD	NCBI36
Celera	11	21,583,616 - 21,583,894	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,133,609 - 21,133,887	UniSTS
TNG Radiation Hybrid Map	11	10288.0	UniSTS

RH121799

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,145,282 - 21,145,473	UniSTS	GRCh37
Build 36	11	21,101,858 - 21,102,049	RGD	NCBI36
Celera	11	21,278,062 - 21,278,253	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,828,062 - 20,828,253	UniSTS
TNG Radiation Hybrid Map	11	10136.0	UniSTS

G59539

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,285,076 - 21,285,181	UniSTS	GRCh37
Build 36	11	21,241,652 - 21,241,757	RGD	NCBI36
Celera	11	21,417,874 - 21,417,979	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,967,855 - 20,967,960	UniSTS
TNG Radiation Hybrid Map	11	10251.0	UniSTS

RH121244

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,158,892 - 21,159,229	UniSTS	GRCh37
Build 36	11	21,115,468 - 21,115,805	RGD	NCBI36
Celera	11	21,291,671 - 21,292,008	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,841,676 - 20,842,013	UniSTS
TNG Radiation Hybrid Map	11	10148.0	UniSTS

RH121245

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,158,983 - 21,159,309	UniSTS	GRCh37
Build 36	11	21,115,559 - 21,115,885	RGD	NCBI36
Celera	11	21,291,762 - 21,292,088	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,841,767 - 20,842,093	UniSTS
TNG Radiation Hybrid Map	11	10148.0	UniSTS

D11S1246

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,182,490 - 21,182,676	UniSTS	GRCh37
Build 36	11	21,139,066 - 21,139,252	RGD	NCBI36
Celera	11	21,315,269 - 21,315,455	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,865,273 - 20,865,457	UniSTS

D11S3241

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	20,880,513 - 20,880,794	UniSTS	GRCh37
Build 36	11	20,837,089 - 20,837,370	RGD	NCBI36
Celera	11	21,013,070 - 21,013,351	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,563,433 - 20,563,714	UniSTS

D11S3509

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,501,251 - 21,501,456	UniSTS	GRCh37
Build 36	11	21,457,827 - 21,458,032	RGD	NCBI36
Celera	11	21,634,019 - 21,634,224	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,184,021 - 21,184,226	UniSTS

D11S3635

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	20,697,523 - 20,697,823	UniSTS	GRCh37
Build 36	11	20,654,099 - 20,654,399	RGD	NCBI36
Celera	11	20,830,388 - 20,830,688	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,380,806 - 20,381,106	UniSTS

D11S3703

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,318,170 - 21,318,279	UniSTS	GRCh37
Build 36	11	21,274,746 - 21,274,855	RGD	NCBI36
Celera	11	21,450,975 - 21,451,084	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,000,970 - 21,001,079	UniSTS

SHGC-110355

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,304,960 - 21,305,237	UniSTS	GRCh37
Build 36	11	21,261,536 - 21,261,813	RGD	NCBI36
Celera	11	21,437,757 - 21,438,034	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,987,752 - 20,988,029	UniSTS
TNG Radiation Hybrid Map	11	10248.0	UniSTS

SHGC-110357

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,304,957 - 21,305,227	UniSTS	GRCh37
Build 36	11	21,261,533 - 21,261,803	RGD	NCBI36
Celera	11	21,437,754 - 21,438,024	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,987,749 - 20,988,019	UniSTS
TNG Radiation Hybrid Map	11	10219.0	UniSTS

SHGC-68638

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	20,944,614 - 20,944,844	UniSTS	GRCh37
Build 36	11	20,901,190 - 20,901,420	RGD	NCBI36
Celera	11	21,077,397 - 21,077,627	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,627,511 - 20,627,741	UniSTS
TNG Radiation Hybrid Map	11	10089.0	UniSTS

SHGC-81836

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	20,947,913 - 20,948,226	UniSTS	GRCh37
Build 36	11	20,904,489 - 20,904,802	RGD	NCBI36
Celera	11	21,080,694 - 21,081,007	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,630,810 - 20,631,123	UniSTS
TNG Radiation Hybrid Map	11	10089.0	UniSTS

SHGC-142292

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,095,956 - 21,096,287	UniSTS	GRCh37
Build 36	11	21,052,532 - 21,052,863	RGD	NCBI36
Celera	11	21,228,737 - 21,229,067	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,778,739 - 20,779,070	UniSTS
TNG Radiation Hybrid Map	11	10142.0	UniSTS

SHGC-145911

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,448,971 - 21,449,305	UniSTS	GRCh37
Build 36	11	21,405,547 - 21,405,881	RGD	NCBI36
Celera	11	21,581,733 - 21,582,067	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,131,726 - 21,132,060	UniSTS
TNG Radiation Hybrid Map	11	10323.0	UniSTS

SHGC-147500

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,070,051 - 21,070,348	UniSTS	GRCh37
Build 36	11	21,026,627 - 21,026,924	RGD	NCBI36
Celera	11	21,202,832 - 21,203,129	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,752,834 - 20,753,131	UniSTS
TNG Radiation Hybrid Map	11	10129.0	UniSTS

SHGC-148001

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,448,818 - 21,449,146	UniSTS	GRCh37
Build 36	11	21,405,394 - 21,405,722	RGD	NCBI36
Celera	11	21,581,580 - 21,581,908	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,131,573 - 21,131,901	UniSTS
TNG Radiation Hybrid Map	11	10303.0	UniSTS

SHGC-154293

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,450,539 - 21,450,878	UniSTS	GRCh37
Build 36	11	21,407,115 - 21,407,454	RGD	NCBI36
Celera	11	21,583,301 - 21,583,640	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,133,294 - 21,133,633	UniSTS
TNG Radiation Hybrid Map	11	10323.0	UniSTS

SHGC-155490

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,484,736 - 21,485,073	UniSTS	GRCh37
Build 36	11	21,441,312 - 21,441,649	RGD	NCBI36
Celera	11	21,617,503 - 21,617,840	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,167,509 - 21,167,846	UniSTS
TNG Radiation Hybrid Map	11	10350.0	UniSTS

SHGC-156005

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,434,703 - 21,435,016	UniSTS	GRCh37
Build 36	11	21,391,279 - 21,391,592	RGD	NCBI36
Celera	11	21,567,469 - 21,567,782	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,117,466 - 21,117,779	UniSTS
TNG Radiation Hybrid Map	11	10317.0	UniSTS

D11S4002

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,354,354 - 21,354,532	UniSTS	GRCh37
Build 36	11	21,310,930 - 21,311,108	RGD	NCBI36
Celera	11	21,487,143 - 21,487,321	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,037,155 - 21,037,333	UniSTS
Whitehead-YAC Contig Map	11		UniSTS

D11S4027

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,283,246 - 21,283,424	UniSTS	GRCh37
Build 36	11	21,239,822 - 21,240,000	RGD	NCBI36
Celera	11	21,416,044 - 21,416,222	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,966,025 - 20,966,203	UniSTS
Whitehead-YAC Contig Map	11		UniSTS

D11S1114

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	20,802,207 - 20,802,329	UniSTS	GRCh37
Build 36	11	20,758,783 - 20,758,905	RGD	NCBI36
Celera	11	20,934,783 - 20,934,905	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,485,139 - 20,485,261	UniSTS

A006T21

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,596,976 - 21,597,079	UniSTS	GRCh37
Build 36	11	21,553,552 - 21,553,655	RGD	NCBI36
Celera	11	21,729,743 - 21,729,846	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,279,726 - 21,279,829	UniSTS
GeneMap99-GB4 RH Map	11	81.76	UniSTS

D11S4028

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,285,047 - 21,285,181	UniSTS	GRCh37
Build 36	11	21,241,623 - 21,241,757	RGD	NCBI36
Celera	11	21,417,845 - 21,417,979	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,967,826 - 20,967,960	UniSTS
Whitehead-YAC Contig Map	11		UniSTS

G31103

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	21,480,689 - 21,480,824	UniSTS	GRCh37
Build 36	11	21,437,265 - 21,437,400	RGD	NCBI36
Celera	11	21,613,449 - 21,613,584	RGD
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	21,163,455 - 21,163,590	UniSTS

L18001

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	p15.1	UniSTS
HuRef	11	20,674,512 - 20,674,873	UniSTS

RH36082

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	p15.1	UniSTS
GeneMap99-GB4 RH Map	11	81.86	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

243

Low

569

233

275

734

363

2175

149

724

159

508

Below cutoff

1661

1259

588

184

544

2421

1059

1140

471

804

130

540

1646

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_047064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_201551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA971151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB085898	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC010811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC067794	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC069575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC087279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC090707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC090857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC099730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC105190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC108460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127805	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299558	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC096100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC096101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC096102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC096103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX112939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX476569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ840941	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D83017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA165320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB327365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU518937	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	H10041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JX565026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF455349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U57523	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000298925 ⟹ ENSP00000298925

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,669,571 - 21,575,681 (+)	Ensembl

RefSeq Acc Id:

ENST00000325319 ⟹ ENSP00000317837

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,669,551 - 21,575,681 (+)	Ensembl

RefSeq Acc Id:

ENST00000357134 ⟹ ENSP00000349654

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,669,586 - 21,575,686 (+)	Ensembl

RefSeq Acc Id:

ENST00000524738

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,783,669 - 20,885,537 (+)	Ensembl

RefSeq Acc Id:

ENST00000527873

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,770,820 - 20,919,302 (+)	Ensembl

RefSeq Acc Id:

ENST00000528046

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,769,225 - 20,847,646 (+)	Ensembl

RefSeq Acc Id:

ENST00000528495

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,927,025 - 20,928,444 (+)	Ensembl

RefSeq Acc Id:

ENST00000529218

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	21,283,661 - 21,575,336 (+)	Ensembl

RefSeq Acc Id:

ENST00000529595

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,770,829 - 20,918,246 (+)	Ensembl

RefSeq Acc Id:

ENST00000530672

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,935,696 - 21,229,388 (+)	Ensembl

RefSeq Acc Id:

ENST00000532434 ⟹ ENSP00000437170

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	20,669,661 - 21,575,067 (+)	Ensembl

RefSeq Acc Id:

ENST00000534263

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	21,283,737 - 21,504,199 (+)	Ensembl

RefSeq Acc Id:

NM_001288713 ⟹ NP_001275642

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	20,669,551 - 21,575,686 (+)	NCBI
HuRef	11	20,379,314 - 21,279,982 (+)	NCBI
CHM1_1	11	20,691,056 - 21,597,225 (+)	NCBI
T2T-CHM13v2.0	11	20,790,315 - 21,696,309 (+)	NCBI

Sequence:

show sequence

GGGGCTGCCTTCCCGGGCGCATATGCGAGCGCAGCACCCGGCGCTGCCGAGCCACCTCCCCCGC
CGCCCGCTAGCAAGTTTGGCGGCTCCAAGCCAGGCGCGCCTCAGGATCCAGGCTCATTTGCTTC
CACCTAGCTTCGGTGCCCCCTGCTAGGCGGGGACCCTCGAGAGCGATGCCGATGGATTTGATTT
TAGTTGTGTGGTTCTGTGTGTGCACTGCCAGGACAGCAGAAGATATGAAGCCACCCGTGTTATC
GCTGATATGGAGAACTAGAGTTCTGAAGTCTCTGCTTCAGCAATCCCTTCAGGGAGTGGTGGGC
TTTGGGATGGACCCTGACCTTCAGATGGATATCGTCACCGAGCTTGACCTTGTGAACACCACCC
TTGGAGTTGCTCAGGTGTCTGGAATGCACAATGCCAGCAAAGCATTTTTATTTCAAGACATAGA
AAGAGAGATCCATGCAGCTCCTCATGTGAGTGAGAAATTAATTCAGCTGTTCCGGAACAAGAGT
GAATTCACCATTTTGGCCACTGTACAGCAGAAGCCATCCACTTCAGGAGTGATACTGTCCATTC
GAGAACTGGAGCACAGCTATTTTGAACTGGAGAGCAGTGGCCTGAGGGATGAGATTCGGTATCA
CTACATACACAATGGGAAGCCAAGGACAGAGGCACTTCCTTACCGCATGGCAGATGGACAATGG
CACAAGGTTGCACTGTCAGTTAGCGCCTCTCATCTCCTGCTCCATGTCGACTGTAACAGGATTT
ATGAGCGTGTGATAGACCCTCCAGATACCAACCTTCCCCCAGGAATCAATTTATGGCTTGGCCA
GCGCAACCAAAAGCATGGCTTATTCAAAGGGATCATCCAAGATGGGAAGATCATCTTTATGCCG
AATGGATATATAACACAGTGTCCAAATCTAAATCACACTTGCCCAACCTGCAGTGATTTCTTAA
GCCTGGTGCAAGGAATAATGGATTTACAAGAGCTTTTGGCCAAGATGACTGCAAAACTAAATTA
TGCAGAGACAAGACTTAGTCAATTGGAAAACTGTCATTGTGAGAAGACTTGTCAAGTGAGTGGA
CTGCTCTATCGAGATCAAGACTCTTGGGTAGATGGTGACCATTGCAGGAACTGCACTTGCAAAA
GTGGTGCCGTGGAATGCCGAAGGATGTCCTGTCCCCCTCTCAATTGCTCCCCAGACTCCCTCCC
AGTGCACATTGCTGGCCAGTGCTGTAAGGTCTGCCGACCAAAATGTATCTATGGAGGAAAAGTT
CTTGCAGAAGGCCAGCGGATTTTAACCAAGAGCTGTCGGGAATGCCGAGGTGGAGTTTTAGTAA
AAATTACAGAAATGTGTCCTCCTTTGAACTGCTCAGAAAAGGATCACATTCTTCCTGAGAATCA
GTGCTGCCGTGTCTGTAGAGGTCATAACTTTTGTGCAGAAGGACCTAAATGTGGTGAAAACTCA
GAGTGCAAAAACTGGAATACAAAAGCTACTTGTGAGTGCAAGAGTGGTTACATCTCTGTCCAGG
GAGACTCTGCCTACTGTGAAGATATTGATGAGTGTGCAGCTAAGATGCATTACTGTCATGCCAA
TACTGTGTGTGTCAACCTTCCTGGGTTATATCGCTGTGACTGTGTCCCAGGATACATTCGTGTG
GATGACTTCTCTTGTACAGAACACGATGAATGTGGCAGCGGCCAGCACAACTGTGATGAGAATG
CCATCTGCACCAACACTGTCCAGGGACACAGCTGCACCTGCAAACCGGGCTACGTGGGGAACGG
GACCATCTGCAGAGCTTTCTGTGAAGAGGGCTGCAGATACGGTGGAACGTGTGTGGCTCCCAAC
AAATGTGTCTGTCCATCTGGATTCACAGGAAGCCACTGCGAGAAAGATATTGATGAATGTTCAG
AGGGAATCATTGAGTGCCACAACCATTCCCGCTGCGTTAACCTGCCAGGGTGGTACCACTGTGA
GTGCAGAAGCGGTTTCCATGACGATGGGACCTATTCACTGTCCGGGGAGTCCTGTATTGACATT
GATGAATGTGCCTTAAGAACTCACACCTGTTGGAACGATTCTGCCTGCATCAACCTGGCAGGGG
GCTTTGACTGTCTCTGCCCCTCTGGGCCCTCCTGCTCTGGTGACTGTCCTCATGAAGGGGGGCT
GAAGCACAATGGCCAGGTGTGGACCTTGAAAGAAGACAGGTGTTCTGTCTGCTCCTGCAAGGAT
GGCAAGATATTCTGCCGACGGACAGCTTGTGATTGCCAGAATCCAAGTGCTGACCTATTCTGTT
GCCCAGAATGTGACACCAGAGTCACAAGTCAATGTTTAGACCAAAATGGTCACAAGCTGTATCG
AAGTGGAGACAATTGGACCCATAGCTGTCAGCAGTGTCGGTGTCTGGAAGGAGAGGTAGATTGC
TGGCCACTCACTTGCCCCAACTTGAGCTGTGAGTATACAGCTATCTTAGAAGGGGAATGTTGTC
CCCGCTGTGTCAGTGACCCCTGCCTAGCTGATAACATCACCTATGACATCAGAAAAACTTGCCT
GGACAGCTATGGTGTTTCACGGCTTAGTGGCTCAGTGTGGACGATGGCTGGATCTCCCTGCACA
ACCTGTAAATGCAAGAATGGAAGAGTCTGTTGTTCTGTGGATTTTGAGTGTCTTCAAAATAATT
GAAGTATTTACAGTGGACTCAACGCAGAAGAATGGACGAAATGACCATCCAACGTGATTAAGGA
TAGGAATCGGTAGTTTGGTTTTTTTGTTTGTTTTGTTTTTTTAACCACAGATAATTGCCAAAGT
TTCCACCTGAGGACGGTGTTTGGAGGTTGCCTTTTGGACCTACCACTTTGCTCATTCTTGCTAA
CCTAGTCTAGGTGACCTACAGTGCCGTGCATTTAAGTCAATGGTTGTTAAAAGAAGTTTCCCGT
GTTGTAAATCATGTTTCCCTTATCAGATCATTTGCAAATACATTTAAATGATCTCATGGTAAAT
GTTGATGTATTTTTTGGTTTATTTTGTGTACTAACATAATAGAGAGAGACTCAGCTCCTTTTAT
TTATTTTGTTGATTTATGGATCAAATTCTAAAATAAAGTTGCCTGTTGTGACTTTTGTCCCATC
TACTGCATACTTAGTGCTGAGATCCCTGTAAAATGTTTTGATGAAAATATGTATGTAGAGTCCA
GTCGCATTATACATACATTTCATAGTGCTGAACCTTCTTAAATGCCTACTCATTCAGCTTAAAC
AGGCTGAAGCCAAGTATGACAAAGAGGGGAAGGGCCAAAAACATAATCAAAGAATAATTTTAAA
GAGAATTCTTGTCTCTCTTGCAAAAA

hide sequence

RefSeq Acc Id:

NM_001288714 ⟹ NP_001275643

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	20,669,551 - 21,575,686 (+)	NCBI
HuRef	11	20,379,314 - 21,279,982 (+)	NCBI
CHM1_1	11	20,691,056 - 21,597,225 (+)	NCBI
T2T-CHM13v2.0	11	20,790,315 - 21,696,309 (+)	NCBI

Sequence:

show sequence

GGGGCTGCCTTCCCGGGCGCATATGCGAGCGCAGCACCCGGCGCTGCCGAGCCACCTCCCCCGC
CGCCCGCTAGCAAGTTTGGCGGCTCCAAGCCAGGCGCGCCTCAGGATCCAGGCTCATTTGCTTC
CACCTAGCTTCGGTGCCCCCTGCTAGGCGGGGACCCTCGAGAGCGATGCCGATGGATTTGATTT
TAGTTGTGTGGTTCTGTGTGTGCACTGCCAGGACAGTGGTGGGCTTTGGGATGGACCCTGACCT
TCAGATGGATATCGTCACCGAGCTTGACCTTGTGAACACCACCCTTGGAGTTGCTCAGGTGTCT
GGAATGCACAATGCCAGCAAAGCATTTTTATTTCAAGACATAGAAAGAGAGATCCATGCAGCTC
CTCATGTGAGTGAGAAATTAATTCAGCTGTTCCGGAACAAGAGTGAATTCACCATTTTGGCCAC
TGTACAGCAGAAGCCATCCACTTCAGGAGTGATACTGTCCATTCGAGAACTGGAGCACAGGATT
TATGAGCGTGTGATAGACCCTCCAGATACCAACCTTCCCCCAGGAATCAATTTATGGCTTGGCC
AGCGCAACCAAAAGCATGGCTTATTCAAAGGGATCATCCAAGATGGGAAGATCATCTTTATGCC
GAATGGATATATAACACAGTGTCCAAATCTAAATCACACTTGCCCAACCTGCAGTGATTTCTTA
AGCCTGGTGCAAGGAATAATGGATTTACAAGAGCTTTTGGCCAAGATGACTGCAAAACTAAATT
ATGCAGAGACAAGACTTAGTCAATTGGAAAACTGTCATTGTGAGAAGACTTGTCAAGTGAGTGG
ACTGCTCTATCGAGATCAAGACTCTTGGGTAGATGGTGACCATTGCAGGAACTGCACTTGCAAA
AGTGGTGCCGTGGAATGCCGAAGGATGTCCTGTCCCCCTCTCAATTGCTCCCCAGACTCCCTCC
CAGTGCACATTGCTGGCCAGTGCTGTAAGGTCTGCCGACCAAAATGTATCTATGGAGGAAAAGT
TCTTGCAGAAGGCCAGCGGATTTTAACCAAGAGCTGTCGGGAATGCCGAGGTGGAGTTTTAGTA
AAAATTACAGAAATGTGTCCTCCTTTGAACTGCTCAGAAAAGGATCACATTCTTCCTGAGAATC
AGTGCTGCCGTGTCTGTAGAGGTCATAACTTTTGTGCAGAAGGACCTAAATGTGGTGAAAACTC
AGAGTGCAAAAACTGGAATACAAAAGCTACTTGTGAGTGCAAGAGTGGTTACATCTCTGTCCAG
GGAGACTCTGCCTACTGTGAAGATATTGATGAGTGTGCAGCTAAGATGCATTACTGTCATGCCA
ATACTGTGTGTGTCAACCTTCCTGGGTTATATCGCTGTGACTGTGTCCCAGGATACATTCGTGT
GGATGACTTCTCTTGTACAGAACACGATGAATGTGGCAGCGGCCAGCACAACTGTGATGAGAAT
GCCATCTGCACCAACACTGTCCAGGGACACAGCTGCACCTGCAAACCGGGCTACGTGGGGAACG
GGACCATCTGCAGAGCTTTCTGTGAAGAGGGCTGCAGATACGGTGGAACGTGTGTGGCTCCCAA
CAAATGTGTCTGTCCATCTGGATTCACAGGAAGCCACTGCGAGAAAGATATTGATGAATGTTCA
GAGGGAATCATTGAGTGCCACAACCATTCCCGCTGCGTTAACCTGCCAGGGTGGTACCACTGTG
AGTGCAGAAGCGGTTTCCATGACGATGGGACCTATTCACTGTCCGGGGAGTCCTGTATTGACAT
TGATGAATGTGCCTTAAGAACTCACACCTGTTGGAACGATTCTGCCTGCATCAACCTGGCAGGG
GGCTTTGACTGTCTCTGCCCCTCTGGGCCCTCCTGCTCTGGTGACTGTCCTCATGAAGGGGGGC
TGAAGCACAATGGCCAGGTGTGGACCTTGAAAGAAGACAGGTGTTCTGTCTGCTCCTGCAAGGA
TGGCAAGATATTCTGCCGACGGACAGCTTGTGATTGCCAGAATCCAAGTGCTGACCTATTCTGT
TGCCCAGAATGTGACACCAGAGTCACAAGTCAATGTTTAGACCAAAATGGTCACAAGCTGTATC
GAAGTGGAGACAATTGGACCCATAGCTGTCAGCAGTGTCGGTGTCTGGAAGGAGAGGTAGATTG
CTGGCCACTCACTTGCCCCAACTTGAGCTGTGAGTATACAGCTATCTTAGAAGGGGAATGTTGT
CCCCGCTGTGTCAGTGACCCCTGCCTAGCTGATAACATCACCTATGACATCAGAAAAACTTGCC
TGGACAGCTATGGTGTTTCACGGCTTAGTGGCTCAGTGTGGACGATGGCTGGATCTCCCTGCAC
AACCTGTAAATGCAAGAATGGAAGAGTCTGTTGTTCTGTGGATTTTGAGTGTCTTCAAAATAAT
TGAAGTATTTACAGTGGACTCAACGCAGAAGAATGGACGAAATGACCATCCAACGTGATTAAGG
ATAGGAATCGGTAGTTTGGTTTTTTTGTTTGTTTTGTTTTTTTAACCACAGATAATTGCCAAAG
TTTCCACCTGAGGACGGTGTTTGGAGGTTGCCTTTTGGACCTACCACTTTGCTCATTCTTGCTA
ACCTAGTCTAGGTGACCTACAGTGCCGTGCATTTAAGTCAATGGTTGTTAAAAGAAGTTTCCCG
TGTTGTAAATCATGTTTCCCTTATCAGATCATTTGCAAATACATTTAAATGATCTCATGGTAAA
TGTTGATGTATTTTTTGGTTTATTTTGTGTACTAACATAATAGAGAGAGACTCAGCTCCTTTTA
TTTATTTTGTTGATTTATGGATCAAATTCTAAAATAAAGTTGCCTGTTGTGACTTTTGTCCCAT
CTACTGCATACTTAGTGCTGAGATCCCTGTAAAATGTTTTGATGAAAATATGTATGTAGAGTCC
AGTCGCATTATACATACATTTCATAGTGCTGAACCTTCTTAAATGCCTACTCATTCAGCTTAAA
CAGGCTGAAGCCAAGTATGACAAAGAGGGGAAGGGCCAAAAACATAATCAAAGAATAATTTTAA
AGAGAATTCTTGTCTCTCTTGCAAAAA

hide sequence

RefSeq Acc Id:

NM_006157 ⟹ NP_006148

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	20,669,586 - 21,575,686 (+)	NCBI
GRCh37	11	20,691,117 - 21,597,232 (+)	ENTREZGENE
Build 36	11	20,647,712 - 21,553,577 (+)	NCBI Archive
HuRef	11	20,379,314 - 21,279,982 (+)	NCBI
CHM1_1	11	20,691,056 - 21,597,225 (+)	NCBI
T2T-CHM13v2.0	11	20,790,350 - 21,696,309 (+)	NCBI

Sequence:

show sequence

ACCCGGCGCTGCCGAGCCACCTCCCCCGCCGCCCGCTAGCAAGTTTGGCGGCTCCAAGCCAGGC
GCGCCTCAGGATCCAGGCTCATTTGCTTCCACCTAGCTTCGGTGCCCCCTGCTAGGCGGGGACC
CTCGAGAGCGATGCCGATGGATTTGATTTTAGTTGTGTGGTTCTGTGTGTGCACTGCCAGGACA
GTGGTGGGCTTTGGGATGGACCCTGACCTTCAGATGGATATCGTCACCGAGCTTGACCTTGTGA
ACACCACCCTTGGAGTTGCTCAGGTGTCTGGAATGCACAATGCCAGCAAAGCATTTTTATTTCA
AGACATAGAAAGAGAGATCCATGCAGCTCCTCATGTGAGTGAGAAATTAATTCAGCTGTTCCGG
AACAAGAGTGAATTCACCATTTTGGCCACTGTACAGCAGAAGCCATCCACTTCAGGAGTGATAC
TGTCCATTCGAGAACTGGAGCACAGCTATTTTGAACTGGAGAGCAGTGGCCTGAGGGATGAGAT
TCGGTATCACTACATACACAATGGGAAGCCAAGGACAGAGGCACTTCCTTACCGCATGGCAGAT
GGACAATGGCACAAGGTTGCACTGTCAGTTAGCGCCTCTCATCTCCTGCTCCATGTCGACTGTA
ACAGGATTTATGAGCGTGTGATAGACCCTCCAGATACCAACCTTCCCCCAGGAATCAATTTATG
GCTTGGCCAGCGCAACCAAAAGCATGGCTTATTCAAAGGGATCATCCAAGATGGGAAGATCATC
TTTATGCCGAATGGATATATAACACAGTGTCCAAATCTAAATCACACTTGCCCAACCTGCAGTG
ATTTCTTAAGCCTGGTGCAAGGAATAATGGATTTACAAGAGCTTTTGGCCAAGATGACTGCAAA
ACTAAATTATGCAGAGACAAGACTTAGTCAATTGGAAAACTGTCATTGTGAGAAGACTTGTCAA
GTGAGTGGACTGCTCTATCGAGATCAAGACTCTTGGGTAGATGGTGACCATTGCAGGAACTGCA
CTTGCAAAAGTGGTGCCGTGGAATGCCGAAGGATGTCCTGTCCCCCTCTCAATTGCTCCCCAGA
CTCCCTCCCAGTGCACATTGCTGGCCAGTGCTGTAAGGTCTGCCGACCAAAATGTATCTATGGA
GGAAAAGTTCTTGCAGAAGGCCAGCGGATTTTAACCAAGAGCTGTCGGGAATGCCGAGGTGGAG
TTTTAGTAAAAATTACAGAAATGTGTCCTCCTTTGAACTGCTCAGAAAAGGATCACATTCTTCC
TGAGAATCAGTGCTGCCGTGTCTGTAGAGGTCATAACTTTTGTGCAGAAGGACCTAAATGTGGT
GAAAACTCAGAGTGCAAAAACTGGAATACAAAAGCTACTTGTGAGTGCAAGAGTGGTTACATCT
CTGTCCAGGGAGACTCTGCCTACTGTGAAGATATTGATGAGTGTGCAGCTAAGATGCATTACTG
TCATGCCAATACTGTGTGTGTCAACCTTCCTGGGTTATATCGCTGTGACTGTGTCCCAGGATAC
ATTCGTGTGGATGACTTCTCTTGTACAGAACACGATGAATGTGGCAGCGGCCAGCACAACTGTG
ATGAGAATGCCATCTGCACCAACACTGTCCAGGGACACAGCTGCACCTGCAAACCGGGCTACGT
GGGGAACGGGACCATCTGCAGAGCTTTCTGTGAAGAGGGCTGCAGATACGGTGGAACGTGTGTG
GCTCCCAACAAATGTGTCTGTCCATCTGGATTCACAGGAAGCCACTGCGAGAAAGATATTGATG
AATGTTCAGAGGGAATCATTGAGTGCCACAACCATTCCCGCTGCGTTAACCTGCCAGGGTGGTA
CCACTGTGAGTGCAGAAGCGGTTTCCATGACGATGGGACCTATTCACTGTCCGGGGAGTCCTGT
ATTGACATTGATGAATGTGCCTTAAGAACTCACACCTGTTGGAACGATTCTGCCTGCATCAACC
TGGCAGGGGGCTTTGACTGTCTCTGCCCCTCTGGGCCCTCCTGCTCTGGTGACTGTCCTCATGA
AGGGGGGCTGAAGCACAATGGCCAGGTGTGGACCTTGAAAGAAGACAGGTGTTCTGTCTGCTCC
TGCAAGGATGGCAAGATATTCTGCCGACGGACAGCTTGTGATTGCCAGAATCCAAGTGCTGACC
TATTCTGTTGCCCAGAATGTGACACCAGAGTCACAAGTCAATGTTTAGACCAAAATGGTCACAA
GCTGTATCGAAGTGGAGACAATTGGACCCATAGCTGTCAGCAGTGTCGGTGTCTGGAAGGAGAG
GTAGATTGCTGGCCACTCACTTGCCCCAACTTGAGCTGTGAGTATACAGCTATCTTAGAAGGGG
AATGTTGTCCCCGCTGTGTCAGTGACCCCTGCCTAGCTGATAACATCACCTATGACATCAGAAA
AACTTGCCTGGACAGCTATGGTGTTTCACGGCTTAGTGGCTCAGTGTGGACGATGGCTGGATCT
CCCTGCACAACCTGTAAATGCAAGAATGGAAGAGTCTGTTGTTCTGTGGATTTTGAGTGTCTTC
AAAATAATTGAAGTATTTACAGTGGACTCAACGCAGAAGAATGGACGAAATGACCATCCAACGT
GATTAAGGATAGGAATCGGTAGTTTGGTTTTTTTGTTTGTTTTGTTTTTTTAACCACAGATAAT
TGCCAAAGTTTCCACCTGAGGACGGTGTTTGGAGGTTGCCTTTTGGACCTACCACTTTGCTCAT
TCTTGCTAACCTAGTCTAGGTGACCTACAGTGCCGTGCATTTAAGTCAATGGTTGTTAAAAGAA
GTTTCCCGTGTTGTAAATCATGTTTCCCTTATCAGATCATTTGCAAATACATTTAAATGATCTC
ATGGTAAATGTTGATGTATTTTTTGGTTTATTTTGTGTACTAACATAATAGAGAGAGACTCAGC
TCCTTTTATTTATTTTGTTGATTTATGGATCAAATTCTAAAATAAAGTTGCCTGTTGTGACTTT
TGTCCCATCTACTGCATACTTAGTGCTGAGATCCCTGTAAAATGTTTTGATGAAAATATGTATG
TAGAGTCCAGTCGCATTATACATACATTTCATAGTGCTGAACCTTCTTAAATGCCTACTCATTC
AGCTTAAACAGGCTGAAGCCAAGTATGACAAAGAGGGGAAGGGCCAAAAACATAATCAAAGAAT
AATTTTAAAGAGAATTCTTGTCTCTCTTGCAAAAA

hide sequence

RefSeq Acc Id:

NM_201551 ⟹ NP_963845

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	20,669,551 - 21,575,686 (+)	NCBI
GRCh37	11	20,691,117 - 21,597,232 (+)	ENTREZGENE
HuRef	11	20,379,314 - 21,279,982 (+)	NCBI
CHM1_1	11	20,691,056 - 21,597,225 (+)	NCBI
T2T-CHM13v2.0	11	20,790,315 - 21,696,309 (+)	NCBI

Sequence:

show sequence

GGGGCTGCCTTCCCGGGCGCATATGCGAGCGCAGCACCCGGCGCTGCCGAGCCACCTCCCCCGC
CGCCCGCTAGCAAGTTTGGCGGCTCCAAGCCAGGCGCGCCTCAGGATCCAGGCTCATTTGCTTC
CACCTAGCTTCGGTGCCCCCTGCTAGGCGGGGACCCTCGAGAGCGATGCCGATGGATTTGATTT
TAGTTGTGTGGTTCTGTGTGTGCACTGCCAGGACAGTGGTGGGCTTTGGGATGGACCCTGACCT
TCAGATGGATATCGTCACCGAGCTTGACCTTGTGAACACCACCCTTGGAGTTGCTCAGGTGTCT
GGAATGCACAATGCCAGCAAAGCATTTTTATTTCAAGACATAGAAAGAGAGATCCATGCAGCTC
CTCATGTGAGTGAGAAATTAATTCAGCTGTTCCGGAACAAGAGTGAATTCACCATTTTGGCCAC
TGTACAGCAGAAGCCATCCACTTCAGGAGTGATACTGTCCATTCGAGAACTGGAGCACAGCTAT
TTTGAACTGGAGAGCAGTGGCCTGAGGGATGAGATTCGGTATCACTACATACACAATGGGAAGC
CAAGGACAGAGGCACTTCCTTACCGCATGGCAGATGGACAATGGCACAAGGTTGCACTGTCAGT
TAGCGCCTCTCATCTCCTGCTCCATGTCGACTGTAACAGGATTTATGAGCGTGTGATAGACCCT
CCAGATACCAACCTTCCCCCAGGAATCAATTTATGGCTTGGCCAGCGCAACCAAAAGCATGGCT
TATTCAAAGGGATCATCCAAGATGGGAAGATCATCTTTATGCCGAATGGATATATAACACAGTG
TCCAAATCTAAATCACACTTGCCCAACCTGCAGTGATTTCTTAAGCCTGGTGCAAGGAATAATG
GATTTACAAGAGCTTTTGGCCAAGATGACTGCAAAACTAAATTATGCAGAGACAAGACTTAGTC
AATTGGAAAACTGTCATTGTGAGAAGACTTGTCAAGTGAGTGGACTGCTCTATCGAGATCAAGA
CTCTTGGGTAGATGGTGACCATTGCAGGAACTGCACTTGCAAAAGTGGTGCCGTGGAATGCCGA
AGGATGTCCTGTCCCCCTCTCAATTGCTCCCCAGACTCCCTCCCAGTGCACATTGCTGGCCAGT
GCTGTAAGGTCTGCCGACCAAAATGTATCTATGGAGGAAAAGTTCTTGCAGAAGGCCAGCGGAT
TTTAACCAAGAGCTGTCGGGAATGCCGAGGTGGAGTTTTAGTAAAAATTACAGAAATGTGTCCT
CCTTTGAACTGCTCAGAAAAGGATCACATTCTTCCTGAGAATCAGTGCTGCCGTGTCTGTAGAG
GTCATAACTTTTGTGCAGAAGGACCTAAATGTGGTGAAAACTCAGAGTGCAAAAACTGGAATAC
AAAAGCTACTTGTGAGTGCAAGAGTGGTTACATCTCTGTCCAGGGAGACTCTGCCTACTGTGAA
GATATTGATGAGTGTGCAGCTAAGATGCATTACTGTCATGCCAATACTGTGTGTGTCAACCTTC
CTGGGTTATATCGCTGTGACTGTGTCCCAGGATACATTCGTGTGGATGACTTCTCTTGTACAGA
ACACGATGAATGTGGCAGCGGCCAGCACAACTGTGATGAGAATGCCATCTGCACCAACACTGTC
CAGGGACACAGCTGCACCTGCAAACCGGGCTACGTGGGGAACGGGACCATCTGCAGAGCTTTCT
GTGAAGAGGGCTGCAGATACGGTGGAACGTGTGTGGCTCCCAACAAATGTGTCTGTCCATCTGG
ATTCACAGGAAGCCACTGCGAGAAAGACATTGATGAATGTGCCTTAAGAACTCACACCTGTTGG
AACGATTCTGCCTGCATCAACCTGGCAGGGGGCTTTGACTGTCTCTGCCCCTCTGGGCCCTCCT
GCTCTGGTGACTGTCCTCATGAAGGGGGGCTGAAGCACAATGGCCAGGTGTGGACCTTGAAAGA
AGACAGGTGTTCTGTCTGCTCCTGCAAGGATGGCAAGATATTCTGCCGACGGACAGCTTGTGAT
TGCCAGAATCCAAGTGCTGACCTATTCTGTTGCCCAGAATGTGACACCAGAGTCACAAGTCAAT
GTTTAGACCAAAATGGTCACAAGCTGTATCGAAGTGGAGACAATTGGACCCATAGCTGTCAGCA
GTGTCGGTGTCTGGAAGGAGAGGTAGATTGCTGGCCACTCACTTGCCCCAACTTGAGCTGTGAG
TATACAGCTATCTTAGAAGGGGAATGTTGTCCCCGCTGTGTCAGTGACCCCTGCCTAGCTGATA
ACATCACCTATGACATCAGAAAAACTTGCCTGGACAGCTATGGTGTTTCACGGCTTAGTGGCTC
AGTGTGGACGATGGCTGGATCTCCCTGCACAACCTGTAAATGCAAGAATGGAAGAGTCTGTTGT
TCTGTGGATTTTGAGTGTCTTCAAAATAATTGAAGTATTTACAGTGGACTCAACGCAGAAGAAT
GGACGAAATGACCATCCAACGTGATTAAGGATAGGAATCGGTAGTTTGGTTTTTTTGTTTGTTT
TGTTTTTTTAACCACAGATAATTGCCAAAGTTTCCACCTGAGGACGGTGTTTGGAGGTTGCCTT
TTGGACCTACCACTTTGCTCATTCTTGCTAACCTAGTCTAGGTGACCTACAGTGCCGTGCATTT
AAGTCAATGGTTGTTAAAAGAAGTTTCCCGTGTTGTAAATCATGTTTCCCTTATCAGATCATTT
GCAAATACATTTAAATGATCTCATGGTAAATGTTGATGTATTTTTTGGTTTATTTTGTGTACTA
ACATAATAGAGAGAGACTCAGCTCCTTTTATTTATTTTGTTGATTTATGGATCAAATTCTAAAA
TAAAGTTGCCTGTTGTGACTTTTGTCCCATCTACTGCATACTTAGTGCTGAGATCCCTGTAAAA
TGTTTTGATGAAAATATGTATGTAGAGTCCAGTCGCATTATACATACATTTCATAGTGCTGAAC
CTTCTTAAATGCCTACTCATTCAGCTTAAACAGGCTGAAGCCAAGTATGACAAAGAGGGGAAGG
GCCAAAAACATAATCAAAGAATAATTTTAAAGAGAATTCTTGTCTCTCTTGCAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001275642	(Get FASTA)	NCBI Sequence Viewer
	NP_001275643	(Get FASTA)	NCBI Sequence Viewer
	NP_006148	(Get FASTA)	NCBI Sequence Viewer
	NP_963845	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB06946	(Get FASTA)	NCBI Sequence Viewer
	AAH69674	(Get FASTA)	NCBI Sequence Viewer
	AAH96100	(Get FASTA)	NCBI Sequence Viewer
	AAH96101	(Get FASTA)	NCBI Sequence Viewer
	AAH96102	(Get FASTA)	NCBI Sequence Viewer
	AAH96103	(Get FASTA)	NCBI Sequence Viewer
	ACB21040	(Get FASTA)	NCBI Sequence Viewer
	AFY98543	(Get FASTA)	NCBI Sequence Viewer
	BAA11680	(Get FASTA)	NCBI Sequence Viewer
	BAC04136	(Get FASTA)	NCBI Sequence Viewer
	BAC22636	(Get FASTA)	NCBI Sequence Viewer
	BAG36234	(Get FASTA)	NCBI Sequence Viewer
	BAG54574	(Get FASTA)	NCBI Sequence Viewer
	BAG61502	(Get FASTA)	NCBI Sequence Viewer
	BAG64709	(Get FASTA)	NCBI Sequence Viewer
	CAH05708	(Get FASTA)	NCBI Sequence Viewer
	EAW68326	(Get FASTA)	NCBI Sequence Viewer
	EAW68327	(Get FASTA)	NCBI Sequence Viewer
	EAW68328	(Get FASTA)	NCBI Sequence Viewer
	Q92832	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_006148 ⟸ NM_006157
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q9Y472 (UniProtKB/Swiss-Prot), Q92832 (UniProtKB/Swiss-Prot), K9UUD5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPMDLILVVWFCVCTARTVVGFGMDPDLQMDIVTELDLVNTTLGVAQVSGMHNASKAFLFQDIE REIHAAPHVSEKLIQLFRNKSEFTILATVQQKPSTSGVILSIRELEHSYFELESSGLRDEIRYH YIHNGKPRTEALPYRMADGQWHKVALSVSASHLLLHVDCNRIYERVIDPPDTNLPPGINLWLGQ RNQKHGLFKGIIQDGKIIFMPNGYITQCPNLNHTCPTCSDFLSLVQGIMDLQELLAKMTAKLNY AETRLSQLENCHCEKTCQVSGLLYRDQDSWVDGDHCRNCTCKSGAVECRRMSCPPLNCSPDSLP VHIAGQCCKVCRPKCIYGGKVLAEGQRILTKSCRECRGGVLVKITEMCPPLNCSEKDHILPENQ CCRVCRGHNFCAEGPKCGENSECKNWNTKATCECKSGYISVQGDSAYCEDIDECAAKMHYCHAN TVCVNLPGLYRCDCVPGYIRVDDFSCTEHDECGSGQHNCDENAICTNTVQGHSCTCKPGYVGNG TICRAFCEEGCRYGGTCVAPNKCVCPSGFTGSHCEKDIDECSEGIIECHNHSRCVNLPGWYHCE CRSGFHDDGTYSLSGESCIDIDECALRTHTCWNDSACINLAGGFDCLCPSGPSCSGDCPHEGGL KHNGQVWTLKEDRCSVCSCKDGKIFCRRTACDCQNPSADLFCCPECDTRVTSQCLDQNGHKLYR SGDNWTHSCQQCRCLEGEVDCWPLTCPNLSCEYTAILEGECCPRCVSDPCLADNITYDIRKTCL DSYGVSRLSGSVWTMAGSPCTTCKCKNGRVCCSVDFECLQNN hide sequence

RefSeq Acc Id:	NP_963845 ⟸ NM_201551
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q92832 (UniProtKB/Swiss-Prot), K9UUD5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPMDLILVVWFCVCTARTVVGFGMDPDLQMDIVTELDLVNTTLGVAQVSGMHNASKAFLFQDIE REIHAAPHVSEKLIQLFRNKSEFTILATVQQKPSTSGVILSIRELEHSYFELESSGLRDEIRYH YIHNGKPRTEALPYRMADGQWHKVALSVSASHLLLHVDCNRIYERVIDPPDTNLPPGINLWLGQ RNQKHGLFKGIIQDGKIIFMPNGYITQCPNLNHTCPTCSDFLSLVQGIMDLQELLAKMTAKLNY AETRLSQLENCHCEKTCQVSGLLYRDQDSWVDGDHCRNCTCKSGAVECRRMSCPPLNCSPDSLP VHIAGQCCKVCRPKCIYGGKVLAEGQRILTKSCRECRGGVLVKITEMCPPLNCSEKDHILPENQ CCRVCRGHNFCAEGPKCGENSECKNWNTKATCECKSGYISVQGDSAYCEDIDECAAKMHYCHAN TVCVNLPGLYRCDCVPGYIRVDDFSCTEHDECGSGQHNCDENAICTNTVQGHSCTCKPGYVGNG TICRAFCEEGCRYGGTCVAPNKCVCPSGFTGSHCEKDIDECALRTHTCWNDSACINLAGGFDCL CPSGPSCSGDCPHEGGLKHNGQVWTLKEDRCSVCSCKDGKIFCRRTACDCQNPSADLFCCPECD TRVTSQCLDQNGHKLYRSGDNWTHSCQQCRCLEGEVDCWPLTCPNLSCEYTAILEGECCPRCVS DPCLADNITYDIRKTCLDSYGVSRLSGSVWTMAGSPCTTCKCKNGRVCCSVDFECLQNN hide sequence

RefSeq Acc Id:	NP_001275642 ⟸ NM_001288713
- Peptide Label:	isoform 3 precursor
- UniProtKB:	Q92832 (UniProtKB/Swiss-Prot), B3KXR2 (UniProtKB/TrEMBL), J3KNC5 (UniProtKB/TrEMBL), K9UUD5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPMDLILVVWFCVCTARTAEDMKPPVLSLIWRTRVLKSLLQQSLQGVVGFGMDPDLQMDIVTEL DLVNTTLGVAQVSGMHNASKAFLFQDIEREIHAAPHVSEKLIQLFRNKSEFTILATVQQKPSTS GVILSIRELEHSYFELESSGLRDEIRYHYIHNGKPRTEALPYRMADGQWHKVALSVSASHLLLH VDCNRIYERVIDPPDTNLPPGINLWLGQRNQKHGLFKGIIQDGKIIFMPNGYITQCPNLNHTCP TCSDFLSLVQGIMDLQELLAKMTAKLNYAETRLSQLENCHCEKTCQVSGLLYRDQDSWVDGDHC RNCTCKSGAVECRRMSCPPLNCSPDSLPVHIAGQCCKVCRPKCIYGGKVLAEGQRILTKSCREC RGGVLVKITEMCPPLNCSEKDHILPENQCCRVCRGHNFCAEGPKCGENSECKNWNTKATCECKS GYISVQGDSAYCEDIDECAAKMHYCHANTVCVNLPGLYRCDCVPGYIRVDDFSCTEHDECGSGQ HNCDENAICTNTVQGHSCTCKPGYVGNGTICRAFCEEGCRYGGTCVAPNKCVCPSGFTGSHCEK DIDECSEGIIECHNHSRCVNLPGWYHCECRSGFHDDGTYSLSGESCIDIDECALRTHTCWNDSA CINLAGGFDCLCPSGPSCSGDCPHEGGLKHNGQVWTLKEDRCSVCSCKDGKIFCRRTACDCQNP SADLFCCPECDTRVTSQCLDQNGHKLYRSGDNWTHSCQQCRCLEGEVDCWPLTCPNLSCEYTAI LEGECCPRCVSDPCLADNITYDIRKTCLDSYGVSRLSGSVWTMAGSPCTTCKCKNGRVCCSVDF ECLQNN hide sequence

RefSeq Acc Id:	NP_001275643 ⟸ NM_001288714
- Peptide Label:	isoform 4 precursor
- UniProtKB:	Q92832 (UniProtKB/Swiss-Prot), F5H6I3 (UniProtKB/TrEMBL), K9UUD5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPMDLILVVWFCVCTARTVVGFGMDPDLQMDIVTELDLVNTTLGVAQVSGMHNASKAFLFQDIE REIHAAPHVSEKLIQLFRNKSEFTILATVQQKPSTSGVILSIRELEHRIYERVIDPPDTNLPPG INLWLGQRNQKHGLFKGIIQDGKIIFMPNGYITQCPNLNHTCPTCSDFLSLVQGIMDLQELLAK MTAKLNYAETRLSQLENCHCEKTCQVSGLLYRDQDSWVDGDHCRNCTCKSGAVECRRMSCPPLN CSPDSLPVHIAGQCCKVCRPKCIYGGKVLAEGQRILTKSCRECRGGVLVKITEMCPPLNCSEKD HILPENQCCRVCRGHNFCAEGPKCGENSECKNWNTKATCECKSGYISVQGDSAYCEDIDECAAK MHYCHANTVCVNLPGLYRCDCVPGYIRVDDFSCTEHDECGSGQHNCDENAICTNTVQGHSCTCK PGYVGNGTICRAFCEEGCRYGGTCVAPNKCVCPSGFTGSHCEKDIDECSEGIIECHNHSRCVNL PGWYHCECRSGFHDDGTYSLSGESCIDIDECALRTHTCWNDSACINLAGGFDCLCPSGPSCSGD CPHEGGLKHNGQVWTLKEDRCSVCSCKDGKIFCRRTACDCQNPSADLFCCPECDTRVTSQCLDQ NGHKLYRSGDNWTHSCQQCRCLEGEVDCWPLTCPNLSCEYTAILEGECCPRCVSDPCLADNITY DIRKTCLDSYGVSRLSGSVWTMAGSPCTTCKCKNGRVCCSVDFECLQNN hide sequence

RefSeq Acc Id:

ENSP00000437170 ⟸ ENST00000532434

RefSeq Acc Id:

ENSP00000298925 ⟸ ENST00000298925

RefSeq Acc Id:

ENSP00000317837 ⟸ ENST00000325319

RefSeq Acc Id:

ENSP00000349654 ⟸ ENST00000357134

Protein Domains

EGF-like Laminin G-like VWFC

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q92832-F1-model_v2	AlphaFold	Q92832	1-810	view protein structure

Promoters

RGD ID:

7219847

Promoter ID:

EPDNEW_H15669

Type:

initiation region

Name:

NELL1_1

Description:

neural EGFL like 1

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	11	20,669,586 - 20,669,646	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:7750	AgrOrtholog
COSMIC	NELL1	COSMIC
Ensembl Genes	ENSG00000165973	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000298925	ENTREZGENE
	ENSP00000298925.5	UniProtKB/TrEMBL
	ENSP00000317837	ENTREZGENE
	ENSP00000317837.5	UniProtKB/TrEMBL
	ENSP00000349654	ENTREZGENE
	ENSP00000349654.5	UniProtKB/Swiss-Prot
	ENSP00000437170	ENTREZGENE
	ENSP00000437170.1	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000298925	ENTREZGENE
	ENST00000298925.9	UniProtKB/TrEMBL
	ENST00000325319	ENTREZGENE
	ENST00000325319.9	UniProtKB/TrEMBL
	ENST00000357134	ENTREZGENE
	ENST00000357134.10	UniProtKB/Swiss-Prot
	ENST00000532434	ENTREZGENE
	ENST00000532434.5	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.120.200	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.20.200.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Complement Module, domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Laminin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000165973	GTEx
HGNC ID	HGNC:7750	ENTREZGENE
Human Proteome Map	NELL1	Human Proteome Map
InterPro	ConA-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-like_Ca-bd_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-type_Asp/Asn_hydroxyl_site	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_Ca-bd_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Growth_fac_rcpt_cys_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Laminin_G	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VWF_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:4745	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	4745	ENTREZGENE
OMIM	602319	OMIM
PANTHER	NEL HOMOLOG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN KINASE C-BINDING PROTEIN NELL1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	EGF_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_CA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Laminin_G_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VWC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA31552	PharmGKB
PROSITE	ASX_HYDROXYL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_CA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VWFC_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VWFC_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	EGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_CA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LamG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TSPN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VWC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VWC_out	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	EGF/Laminin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FnI-like domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF49899	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF57184	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B3KXR2	ENTREZGENE, UniProtKB/TrEMBL
	F5H6I3	ENTREZGENE, UniProtKB/TrEMBL
	J3KNC5	ENTREZGENE, UniProtKB/TrEMBL
	K9UUD5	ENTREZGENE, UniProtKB/TrEMBL
	NELL1_HUMAN	UniProtKB/Swiss-Prot
	Q4VB88_HUMAN	UniProtKB/TrEMBL
	Q92832	ENTREZGENE
	Q9Y472	ENTREZGENE
UniProt Secondary	B2CKC1	UniProtKB/Swiss-Prot
	Q4VB90	UniProtKB/Swiss-Prot
	Q4VB91	UniProtKB/Swiss-Prot
	Q6NSY8	UniProtKB/Swiss-Prot
	Q9Y472	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-06-23	NELL1	neural EGFL like 1		NEL-like 1 (chicken)	Symbol and/or name change	5135510	APPROVED
2011-08-17	NELL1	NEL-like 1 (chicken)	NELL1	NEL-like 1 (chicken)	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)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - ClinVar