GET1 (guided entry of tail-anchored proteins factor 1)

Gene: GET1 (guided entry of tail-anchored proteins factor 1) Homo sapiens

Analyze

Symbol:

GET1

Name:

guided entry of tail-anchored proteins factor 1

RGD ID:

1352136

HGNC Page

HGNC:12790

Description:

Predicted to enable protein-membrane adaptor activity. Involved in protein stabilization and tail-anchored membrane protein insertion into ER membrane. Part of GET complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CHD5; congenital heart disease 5 protein; FLJ51808; tail-anchored protein insertion receptor WRB; tryptophan-rich basic protein; tryptophan-rich protein; WRB

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

GET1P1

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	21	39,380,326 - 39,428,528 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	39,377,698 - 39,428,528 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	40,752,252 - 40,800,454 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	39,674,140 - 39,691,496 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	39,674,139 - 39,691,486	NCBI
Celera	21	25,949,901 - 25,967,508 (+)	NCBI		Celera
Cytogenetic Map	21	q22.2	NCBI
HuRef	21	26,220,985 - 26,238,560 (+)	NCBI		HuRef
CHM1_1	21	40,313,371 - 40,330,979 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	37,764,912 - 37,813,128 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

Experimental Liver Cirrhosis (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-naphthyl isothiocyanate (ISO)

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

2-methylcholine (EXP)

2-palmitoylglycerol (EXP)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

4-hydroxyphenyl retinamide (ISO)

5-aza-2'-deoxycytidine (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

azoxystrobin (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

choline (ISO)

chromium(6+) (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

dieldrin (EXP)

doxorubicin (EXP)

fenthion (ISO)

folic acid (ISO)

hydrogen peroxide (EXP)

indometacin (EXP)

ivermectin (EXP)

L-methionine (ISO)

lead(0) (EXP)

leflunomide (EXP)

lycopene (EXP)

N-nitrosodimethylamine (ISO)

perfluorononanoic acid (EXP)

perfluorooctanoic acid (EXP)

quercetin (EXP)

rotenone (EXP)

Soman (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

establishment of localization in cell (ISO)

establishment of protein localization to membrane (IEA)

otic vesicle development (ISO)

post-translational protein targeting to endoplasmic reticulum membrane (ISO)

protein insertion into ER membrane (IDA,IMP,NAS)

protein stabilization (IDA)

sensory perception of sound (ISO)

synapse organization (ISO)

tail-anchored membrane protein insertion into ER membrane (IBA,IDA,IEA,IMP)

Cellular Component

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IEA,NAS)

GET complex (IBA,IDA,IEA,IPI)

membrane (IEA)

nucleus (TAS)

Molecular Function

protein binding (IPI)

protein-membrane adaptor activity (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9480850	PMID:9544840	PMID:10830953	PMID:12189208	PMID:12477932	PMID:15489334	PMID:18029348	PMID:20200978	PMID:21444755	PMID:21873635	PMID:23041287	PMID:26186194
PMID:27100087	PMID:27226539	PMID:27432908	PMID:28514442	PMID:30098192	PMID:31417168	PMID:32187542	PMID:32296183	PMID:32628020	PMID:32910895	PMID:33961781	PMID:34373451
PMID:35271311	PMID:36114006	PMID:36610398

Genomics

Comparative Map Data

GET1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	21	39,380,326 - 39,428,528 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	39,377,698 - 39,428,528 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	40,752,252 - 40,800,454 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	39,674,140 - 39,691,496 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	39,674,139 - 39,691,486	NCBI
Celera	21	25,949,901 - 25,967,508 (+)	NCBI		Celera
Cytogenetic Map	21	q22.2	NCBI
HuRef	21	26,220,985 - 26,238,560 (+)	NCBI		HuRef
CHM1_1	21	40,313,371 - 40,330,979 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	37,764,912 - 37,813,128 (+)	NCBI		T2T-CHM13v2.0

Get1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	95,946,600 - 95,959,052 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	95,946,607 - 95,959,052 (+)	Ensembl		GRCm39 Ensembl
GRCm38	16	96,145,400 - 96,157,852 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	96,145,407 - 96,157,852 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	96,367,026 - 96,379,459 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	96,250,329 - 96,262,762 (+)	NCBI		MGSCv36	mm8
Celera	16	97,220,073 - 97,232,510 (+)	NCBI		Celera
Cytogenetic Map	16	C4	NCBI
cM Map	16	56.84	NCBI

Get1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	48,915,298 - 48,929,235 (+)	NCBI		GRCr8
mRatBN7.2	11	35,438,555 - 35,460,156 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	35,445,815 - 35,459,973 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	44,103,011 - 44,116,953 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	36,774,391 - 36,788,333 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	35,920,216 - 35,934,148 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	36,497,513 - 36,511,445 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	36,497,509 - 36,511,535 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	40,028,142 - 40,042,074 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	36,453,285 - 36,467,217 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	11	36,510,873 - 36,524,805 (+)	NCBI
Celera	11	33,012,406 - 33,026,338 (-)	NCBI		Celera
Cytogenetic Map	11	q11	NCBI

Get1
(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_004955407	38,160,218 - 38,168,808 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955407	38,160,951 - 38,168,808 (+)	NCBI	ChiLan1.0	ChiLan1.0

GET1
(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	22	35,478,596 - 35,496,578 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	21	30,334,471 - 30,352,451 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	21	25,734,722 - 25,752,196 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	21	39,072,103 - 39,088,937 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	21	39,072,103 - 39,088,928 (+)	Ensembl	panpan1.1		panPan2

GET1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	31	34,282,650 - 34,299,916 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	31	33,396,185 - 33,433,643 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	31	33,630,745 - 33,667,483 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	31	33,650,809 - 33,674,732 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	31	33,502,811 - 33,539,864 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	31	33,508,008 - 33,544,636 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	31	33,998,996 - 34,035,703 (+)	NCBI		UU_Cfam_GSD_1.0

GET1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	202,962,664 - 202,979,902 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	202,962,652 - 202,978,390 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	213,126,901 - 213,142,261 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Get1
(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_004624745	24,627,526 - 24,635,159 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624745	24,625,206 - 24,635,129 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in GET1
36 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000050445]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	copy number loss	See cases [RCV000051047]	Chr21:37135738..42434515 [GRCh38] Chr21:38508038..43854625 [GRCh37] Chr21:37429908..42727694 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	copy number loss	See cases [RCV000052807]	Chr21:35527952..44298520 [GRCh37] Chr21:34449822..43171589 [NCBI36] Chr21:21q22.1-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|See cases [RCV000052836]	Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]\|See cases [RCV000052838]	Chr21:38273492..46670405 [GRCh38] Chr21:39645414..48090317 [GRCh37] Chr21:38567284..46914745 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053042]	Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053043]	Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3	copy number gain	See cases [RCV000053045]	Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053065]	Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053067]	Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053068]	Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053069]	Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053039]	Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	copy number gain	See cases [RCV000053040]	Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)	copy number loss	DYRK1A-related intellectual disability syndrome [RCV000190476]	Chr21:37839410..41427526 [GRCh37] Chr21:21q22.13-22.2	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	copy number gain	See cases [RCV000133676]	Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	copy number gain	See cases [RCV000134727]	Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	copy number gain	See cases [RCV000134509]	Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134119]	Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000135310]	Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	copy number gain	See cases [RCV000134972]	Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	copy number gain	See cases [RCV000134836]	Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134842]	Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	copy number gain	See cases [RCV000135448]	Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	copy number loss	See cases [RCV000135412]	Chr21:35543872..39993338 [GRCh38] Chr21:36916169..41365265 [GRCh37] Chr21:35838039..40287135 [NCBI36] Chr21:21q22.12-22.2	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	copy number gain	See cases [RCV000136142]	Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	copy number loss	See cases [RCV000136828]	Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137255]	Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137337]	Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138216]	Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	copy number loss	See cases [RCV000138096]	Chr21:37669628..46671060 [GRCh38] Chr21:39041930..48090972 [GRCh37] Chr21:37963800..46915400 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	copy number gain	See cases [RCV000138164]	Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138436]	Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000140103]	Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	copy number gain	See cases [RCV000141346]	Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000141827]	Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3	uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	copy number loss	See cases [RCV000142311]	Chr21:38816399..46677460 [GRCh38] Chr21:40188323..48097372 [GRCh37] Chr21:39110193..46921800 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	copy number loss	See cases [RCV000142427]	Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	copy number loss	See cases [RCV000142650]	Chr21:39375937..44246148 [GRCh38] Chr21:40747863..45666031 [GRCh37] Chr21:39669733..44490459 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143376]	Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	copy number gain	See cases [RCV000143160]	Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143120]	Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000148131]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	copy number loss	See cases [RCV000239948]	Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	copy number gain	See cases [RCV000239953]	Chr21:39841248..44652723 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	copy number gain	See cases [RCV000240397]	Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1	copy number loss	See cases [RCV000449183]	Chr21:38176362..41901945 [GRCh37] Chr21:21q22.13-22.2	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3	copy number gain	See cases [RCV000446716]	Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	copy number loss	See cases [RCV000446516]	Chr21:38790552..43619940 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	copy number gain	See cases [RCV000447884]	Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3	copy number gain	See cases [RCV000448199]	Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3	copy number gain	See cases [RCV000447729]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	See cases [RCV000447749]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	copy number loss	See cases [RCV000510684]	Chr21:38699545..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	copy number gain	See cases [RCV000511589]	Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	copy number loss	See cases [RCV000510798]	Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	copy number gain	See cases [RCV000512585]	Chr21:36183329..42311538 [GRCh37] Chr21:21q22.12-22.2	likely pathogenic
GRCh37/hg19 21q22.2(chr21:40039202-41278694)x1	copy number loss	not provided [RCV000684157]	Chr21:40039202..41278694 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	copy number gain	not provided [RCV000684166]	Chr21:33980213..42542987 [GRCh37] Chr21:21q22.11-22.2	pathogenic
NC_000021.9:g.(?_38981673)_(41568791_?)del	deletion	Autism [RCV000754228]	Chr21:38981673..41568791 [GRCh38] Chr21:21q22.2-22.3	likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3	copy number gain	not provided [RCV000741418]	Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3	copy number gain	not provided [RCV000741419]	Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1	copy number loss	not provided [RCV000741567]	Chr21:40364245..44169928 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3	copy number gain	not provided [RCV000741413]	Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3	copy number gain	not provided [RCV000741415]	Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:40726882-41265009)x3	copy number gain	not provided [RCV000849872]	Chr21:40726882..41265009 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.2(chr21:40726882-41265009)x3	copy number gain	not provided [RCV000849873]	Chr21:40726882..41265009 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV000846937]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	copy number loss	not provided [RCV001007132]	Chr21:39410438..45171756 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:40067081-40841948)x3	copy number gain	not provided [RCV000848786]	Chr21:40067081..40841948 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.266A>G (p.His89Arg)	single nucleotide variant	not specified [RCV004299632]	Chr21:39390861 [GRCh38] Chr21:40762787 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.545A>G (p.His182Arg)	single nucleotide variant	not specified [RCV004292354]	Chr21:39423268 [GRCh38] Chr21:40795194 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.994G>C (p.Glu332Gln)	single nucleotide variant	not specified [RCV004316650]	Chr21:39411784 [GRCh38] Chr21:40783710 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.45C>A (p.Phe15Leu)	single nucleotide variant	not specified [RCV004289331]	Chr21:39428449 [GRCh38] Chr21:40800375 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	copy number gain	Complete trisomy 21 syndrome [RCV002284306]	Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:39270345-41091831)x1	copy number loss	not provided [RCV001259411]	Chr21:39270345..41091831 [GRCh37] Chr21:21q22.13-22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	copy number gain	See cases [RCV001263025]	Chr21:14629063..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	copy number gain	See cases [RCV001780078]	Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)	copy number gain	not specified [RCV002052723]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	copy number gain	not specified [RCV002052725]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV001829203]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	copy number gain	not specified [RCV002052724]	Chr21:15041209..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:39892114-40905632)x1	copy number loss	not provided [RCV001836600]	Chr21:39892114..40905632 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1630G>A (p.Ala544Thr)	single nucleotide variant	not specified [RCV004329590]	Chr21:39406265 [GRCh38] Chr21:40778191 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.2(chr21:40219284-41569839)x3	copy number gain	not provided [RCV002472434]	Chr21:40219284..41569839 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.38A>C (p.Glu13Ala)	single nucleotide variant	not specified [RCV004117348]	Chr21:39428456 [GRCh38] Chr21:40800382 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1202A>G (p.Lys401Arg)	single nucleotide variant	not specified [RCV004187174]	Chr21:39410059 [GRCh38] Chr21:40781985 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1936G>A (p.Gly646Arg)	single nucleotide variant	not specified [RCV004111175]	Chr21:39405959 [GRCh38] Chr21:40777885 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.632G>C (p.Arg211Thr)	single nucleotide variant	not specified [RCV004188355]	Chr21:39423181 [GRCh38] Chr21:40795107 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1151C>G (p.Pro384Arg)	single nucleotide variant	not specified [RCV004182143]	Chr21:39410277 [GRCh38] Chr21:40782203 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.784C>G (p.His262Asp)	single nucleotide variant	not specified [RCV004084370]	Chr21:39423029 [GRCh38] Chr21:40794955 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.118C>T (p.Arg40Trp)	single nucleotide variant	not specified [RCV004163095]	Chr21:39428376 [GRCh38] Chr21:40800302 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1193A>C (p.His398Pro)	single nucleotide variant	not specified [RCV004245495]	Chr21:39410068 [GRCh38] Chr21:40781994 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.764C>G (p.Ala255Gly)	single nucleotide variant	not specified [RCV004102664]	Chr21:39423049 [GRCh38] Chr21:40794975 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1796T>C (p.Met599Thr)	single nucleotide variant	not specified [RCV004201028]	Chr21:39406099 [GRCh38] Chr21:40778025 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1502G>C (p.Gly501Ala)	single nucleotide variant	not specified [RCV004224102]	Chr21:39406393 [GRCh38] Chr21:40778319 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1470A>C (p.Arg490Ser)	single nucleotide variant	not specified [RCV004167087]	Chr21:39406425 [GRCh38] Chr21:40778351 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1985C>T (p.Thr662Ile)	single nucleotide variant	not specified [RCV004169762]	Chr21:39405910 [GRCh38] Chr21:40777836 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1541C>T (p.Thr514Met)	single nucleotide variant	not specified [RCV004180561]	Chr21:39406354 [GRCh38] Chr21:40778280 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1337G>C (p.Gly446Ala)	single nucleotide variant	not specified [RCV004199445]	Chr21:39406558 [GRCh38] Chr21:40778484 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.425G>A (p.Arg142Gln)	single nucleotide variant	not specified [RCV004086518]	Chr21:39423388 [GRCh38] Chr21:40795314 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.957C>A (p.His319Gln)	single nucleotide variant	not specified [RCV004174019]	Chr21:39420724 [GRCh38] Chr21:40792650 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.974A>T (p.Lys325Met)	single nucleotide variant	not specified [RCV004277205]	Chr21:39420707 [GRCh38] Chr21:40792633 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1882A>G (p.Ser628Gly)	single nucleotide variant	not specified [RCV004260119]	Chr21:39406013 [GRCh38] Chr21:40777939 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1175C>T (p.Ala392Val)	single nucleotide variant	not specified [RCV004280150]	Chr21:39410086 [GRCh38] Chr21:40782012 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1174G>A (p.Ala392Thr)	single nucleotide variant	not specified [RCV004280149]	Chr21:39410087 [GRCh38] Chr21:40782013 [GRCh37] Chr21:21q22.2	likely benign
NM_152505.4(LCA5L):c.274G>C (p.Glu92Gln)	single nucleotide variant	not specified [RCV004325788]	Chr21:39428220 [GRCh38] Chr21:40800146 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.422G>A (p.Arg141His)	single nucleotide variant	not specified [RCV004334293]	Chr21:39393251 [GRCh38] Chr21:40765177 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.299T>G (p.Ile100Arg)	single nucleotide variant	not specified [RCV004334327]	Chr21:39391799 [GRCh38] Chr21:40763725 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.391G>A (p.Val131Met)	single nucleotide variant	not specified [RCV004338218]	Chr21:39393220 [GRCh38] Chr21:40765146 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	copy number loss	not provided [RCV003483381]	Chr21:40681179..48097372 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	copy number gain	not provided [RCV003485218]	Chr21:15006458..45674637 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	copy number gain	not provided [RCV003485222]	Chr21:33015681..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_152505.4(LCA5L):c.1863C>G (p.Gly621=)	single nucleotide variant	not provided [RCV003431499]	Chr21:39406032 [GRCh38] Chr21:40777958 [GRCh37] Chr21:21q22.2	likely benign
NM_152505.4(LCA5L):c.1722T>C (p.Tyr574=)	single nucleotide variant	not provided [RCV003431500]	Chr21:39406173 [GRCh38] Chr21:40778099 [GRCh37] Chr21:21q22.2	likely benign
NM_152505.4(LCA5L):c.1536C>G (p.Pro512=)	single nucleotide variant	not provided [RCV003431501]	Chr21:39406359 [GRCh38] Chr21:40778285 [GRCh37] Chr21:21q22.2	likely benign
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	copy number loss	not specified [RCV003986157]	Chr21:35872675..48097372 [GRCh37] Chr21:21q22.12-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	copy number gain	not specified [RCV003986152]	Chr21:26929299..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	copy number gain	not specified [RCV003986160]	Chr21:15023401..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	copy number gain	not specified [RCV003986158]	Chr21:34092685..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	copy number gain	not specified [RCV003986149]	Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
NM_004627.6(GET1):c.166A>G (p.Met56Val)	single nucleotide variant	not specified [RCV004387755]	Chr21:39390761 [GRCh38] Chr21:40762687 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.257T>G (p.Leu86Arg)	single nucleotide variant	not specified [RCV004387758]	Chr21:39390852 [GRCh38] Chr21:40762778 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.128C>T (p.Ala43Val)	single nucleotide variant	not specified [RCV004387753]	Chr21:39390723 [GRCh38] Chr21:40762649 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.171G>T (p.Lys57Asn)	single nucleotide variant	not specified [RCV004387756]	Chr21:39390766 [GRCh38] Chr21:40762692 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.421C>T (p.Arg141Cys)	single nucleotide variant	not specified [RCV004387761]	Chr21:39393250 [GRCh38] Chr21:40765176 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.277C>T (p.Arg93Trp)	single nucleotide variant	not specified [RCV004387759]	Chr21:39391777 [GRCh38] Chr21:40763703 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.5G>C (p.Ser2Thr)	single nucleotide variant	not specified [RCV004387762]	Chr21:39380389 [GRCh38] Chr21:40752315 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.11C>T (p.Ala4Val)	single nucleotide variant	not specified [RCV004387752]	Chr21:39380395 [GRCh38] Chr21:40752321 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.65A>G (p.Asn22Ser)	single nucleotide variant	not specified [RCV004387763]	Chr21:39380449 [GRCh38] Chr21:40752375 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.101G>A (p.Gly34Asp)	single nucleotide variant	not specified [RCV004410325]	Chr21:39428393 [GRCh38] Chr21:40800319 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1258G>A (p.Glu420Lys)	single nucleotide variant	not specified [RCV004410326]	Chr21:39410003 [GRCh38] Chr21:40781929 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1585G>C (p.Ala529Pro)	single nucleotide variant	not specified [RCV004410327]	Chr21:39406310 [GRCh38] Chr21:40778236 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.160T>G (p.Ser54Ala)	single nucleotide variant	not specified [RCV004410328]	Chr21:39428334 [GRCh38] Chr21:40800260 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.290A>G (p.Lys97Arg)	single nucleotide variant	not specified [RCV004410329]	Chr21:39428204 [GRCh38] Chr21:40800130 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.293A>G (p.Tyr98Cys)	single nucleotide variant	not specified [RCV004410330]	Chr21:39428201 [GRCh38] Chr21:40800127 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.676A>T (p.Arg226Trp)	single nucleotide variant	not specified [RCV004410331]	Chr21:39423137 [GRCh38] Chr21:40795063 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.806C>T (p.Thr269Ile)	single nucleotide variant	not specified [RCV004410332]	Chr21:39423007 [GRCh38] Chr21:40794933 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.955C>T (p.His319Tyr)	single nucleotide variant	not specified [RCV004412403]	Chr21:39420726 [GRCh38] Chr21:40792652 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.136G>C (p.Glu46Gln)	single nucleotide variant	not specified [RCV004387754]	Chr21:39390731 [GRCh38] Chr21:40762657 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.202G>A (p.Glu68Lys)	single nucleotide variant	not specified [RCV004387757]	Chr21:39390797 [GRCh38] Chr21:40762723 [GRCh37] Chr21:21q22.2	uncertain significance
NM_004627.6(GET1):c.376G>A (p.Val126Ile)	single nucleotide variant	not specified [RCV004387760]	Chr21:39393205 [GRCh38] Chr21:40765131 [GRCh37] Chr21:21q22.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2176
Count of miRNA genes:	988
Interacting mature miRNAs:	1189
Transcripts:	ENST00000333781, ENST00000380708, ENST00000380713, ENST00000398753, ENST00000415847, ENST00000442773, ENST00000466787, ENST00000471468, ENST00000476914, ENST00000478273, ENST00000480690, ENST00000487869, ENST00000490860, ENST00000541890
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

D21S1412

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	22,110,660 - 22,111,551	UniSTS	GRCh37
GRCh37	21	40,750,288 - 40,750,717	UniSTS	GRCh37
Celera	21	25,947,976 - 25,948,405	UniSTS
Celera	11	22,243,702 - 22,244,593	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,219,072 - 26,219,489	UniSTS
HuRef	10	93,771,754 - 93,772,311	UniSTS
Marshfield Genetic Map	21	40.47	RGD
Marshfield Genetic Map	21	40.47	UniSTS

RH65241

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,769,346 - 40,769,504	UniSTS	GRCh37
GRCh37	12	30,696,617 - 30,696,771	UniSTS	GRCh37
Build 36	12	30,587,884 - 30,588,038	RGD	NCBI36
Celera	21	25,967,034 - 25,967,192	UniSTS
Celera	12	35,839,445 - 35,839,599	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,238,086 - 26,238,244	UniSTS
HuRef	12	30,461,870 - 30,462,024	UniSTS

ECD00266

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,752,609 - 40,753,526	UniSTS	GRCh37
Build 36	21	39,674,479 - 39,675,396	RGD	NCBI36
Celera	21	25,950,297 - 25,951,214	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,221,381 - 26,222,298	UniSTS

ECD00321

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,764,413 - 40,765,326	UniSTS	GRCh37
Build 36	21	39,686,283 - 39,687,196	RGD	NCBI36
Celera	21	25,962,102 - 25,963,016	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,233,186 - 26,234,100	UniSTS

ECD01307

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,751,657 - 40,752,526	UniSTS	GRCh37
Build 36	21	39,673,527 - 39,674,396	RGD	NCBI36
Celera	21	25,949,345 - 25,950,214	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,220,429 - 26,221,298	UniSTS

ECD02297

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,768,663 - 40,769,497	UniSTS	GRCh37
Build 36	21	39,690,533 - 39,691,367	RGD	NCBI36
Celera	21	25,966,351 - 25,967,185	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,237,403 - 26,238,237	UniSTS

ECD02355

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,763,517 - 40,764,349	UniSTS	GRCh37
Build 36	21	39,685,387 - 39,686,219	RGD	NCBI36
Celera	21	25,961,206 - 25,962,038	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,232,290 - 26,233,122	UniSTS

ECD03939

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,762,585 - 40,763,364	UniSTS	GRCh37
Build 36	21	39,684,455 - 39,685,234	RGD	NCBI36
Celera	21	25,960,274 - 25,961,053	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,231,358 - 26,232,137	UniSTS

ECD07345

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,756,684 - 40,757,367	UniSTS	GRCh37
Build 36	21	39,678,554 - 39,679,237	RGD	NCBI36
Celera	21	25,954,372 - 25,955,055	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,225,455 - 26,226,138	UniSTS

ECD08714

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,757,403 - 40,758,050	UniSTS	GRCh37
Build 36	21	39,679,273 - 39,679,920	RGD	NCBI36
Celera	21	25,955,091 - 25,955,738	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,226,174 - 26,226,821	UniSTS

ECD09164

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,758,108 - 40,758,743	UniSTS	GRCh37
Build 36	21	39,679,978 - 39,680,613	RGD	NCBI36
Celera	21	25,955,796 - 25,956,431	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,226,879 - 26,227,514	UniSTS

ECD10218

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,759,158 - 40,759,765	UniSTS	GRCh37
Build 36	21	39,681,028 - 39,681,635	RGD	NCBI36
Celera	21	25,956,847 - 25,957,454	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,227,930 - 26,228,538	UniSTS

ECD15406

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,760,506 - 40,760,976	UniSTS	GRCh37
Build 36	21	39,682,376 - 39,682,846	RGD	NCBI36
Celera	21	25,958,195 - 25,958,665	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,229,279 - 26,229,749	UniSTS

ECD16262

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,761,480 - 40,761,927	UniSTS	GRCh37
Build 36	21	39,683,350 - 39,683,797	RGD	NCBI36
Celera	21	25,959,169 - 25,959,616	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,230,253 - 26,230,700	UniSTS

ECD17298

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,590 - 40,767,994	UniSTS	GRCh37
Build 36	21	39,689,460 - 39,689,864	RGD	NCBI36
Celera	21	25,965,279 - 25,965,683	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,236,331 - 26,236,735	UniSTS

REN20346

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,750,726 - 40,750,979	UniSTS	GRCh37
Build 36	21	39,672,596 - 39,672,849	RGD	NCBI36
Celera	21	25,948,414 - 25,948,667	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,219,498 - 26,219,751	UniSTS

REN20347

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,750,955 - 40,751,209	UniSTS	GRCh37
Build 36	21	39,672,825 - 39,673,079	RGD	NCBI36
Celera	21	25,948,643 - 25,948,897	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,219,727 - 26,219,981	UniSTS

REN20348

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,751,267 - 40,751,530	UniSTS	GRCh37
Build 36	21	39,673,137 - 39,673,400	RGD	NCBI36
Celera	21	25,948,955 - 25,949,218	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,220,039 - 26,220,302	UniSTS

REN20349

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,751,295 - 40,751,531	UniSTS	GRCh37
Build 36	21	39,673,165 - 39,673,401	RGD	NCBI36
Celera	21	25,948,983 - 25,949,219	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,220,067 - 26,220,303	UniSTS

REN20350

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,751,630 - 40,751,856	UniSTS	GRCh37
Build 36	21	39,673,500 - 39,673,726	RGD	NCBI36
Celera	21	25,949,318 - 25,949,544	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,220,402 - 26,220,628	UniSTS

REN20351

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,751,826 - 40,752,073	UniSTS	GRCh37
Build 36	21	39,673,696 - 39,673,943	RGD	NCBI36
Celera	21	25,949,514 - 25,949,761	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,220,598 - 26,220,845	UniSTS

REN20352

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,752,046 - 40,752,270	UniSTS	GRCh37
Build 36	21	39,673,916 - 39,674,140	RGD	NCBI36
Celera	21	25,949,734 - 25,949,958	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,220,818 - 26,221,042	UniSTS

REN20353

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,752,118 - 40,752,385	UniSTS	GRCh37
Build 36	21	39,673,988 - 39,674,255	RGD	NCBI36
Celera	21	25,949,806 - 25,950,073	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,220,890 - 26,221,157	UniSTS

REN20354

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,752,371 - 40,752,615	UniSTS	GRCh37
Build 36	21	39,674,241 - 39,674,485	RGD	NCBI36
Celera	21	25,950,059 - 25,950,303	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,221,143 - 26,221,387	UniSTS

REN20355

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,752,588 - 40,752,844	UniSTS	GRCh37
Build 36	21	39,674,458 - 39,674,714	RGD	NCBI36
Celera	21	25,950,276 - 25,950,532	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,221,360 - 26,221,616	UniSTS

REN20356

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,752,825 - 40,753,061	UniSTS	GRCh37
Build 36	21	39,674,695 - 39,674,931	RGD	NCBI36
Celera	21	25,950,513 - 25,950,749	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,221,597 - 26,221,833	UniSTS

REN20357

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,753,047 - 40,753,300	UniSTS	GRCh37
Build 36	21	39,674,917 - 39,675,170	RGD	NCBI36
Celera	21	25,950,735 - 25,950,988	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,221,819 - 26,222,072	UniSTS

REN20358

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,753,285 - 40,753,549	UniSTS	GRCh37
Build 36	21	39,675,155 - 39,675,419	RGD	NCBI36
Celera	21	25,950,973 - 25,951,237	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,222,057 - 26,222,321	UniSTS

REN20359

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,753,509 - 40,753,747	UniSTS	GRCh37
Build 36	21	39,675,379 - 39,675,617	RGD	NCBI36
Celera	21	25,951,197 - 25,951,435	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,222,281 - 26,222,519	UniSTS

REN20360

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,753,898 - 40,754,138	UniSTS	GRCh37
Build 36	21	39,675,768 - 39,676,008	RGD	NCBI36
Celera	21	25,951,586 - 25,951,826	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,222,670 - 26,222,910	UniSTS

REN20361

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,754,114 - 40,754,361	UniSTS	GRCh37
Build 36	21	39,675,984 - 39,676,231	RGD	NCBI36
Celera	21	25,951,802 - 25,952,049	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,222,886 - 26,223,133	UniSTS

REN20362

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,754,336 - 40,754,603	UniSTS	GRCh37
Build 36	21	39,676,206 - 39,676,473	RGD	NCBI36
Celera	21	25,952,024 - 25,952,291	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,223,108 - 26,223,375	UniSTS

REN20363

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,754,507 - 40,754,735	UniSTS	GRCh37
Build 36	21	39,676,377 - 39,676,605	RGD	NCBI36
Celera	21	25,952,195 - 25,952,423	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,223,279 - 26,223,507	UniSTS

REN20364

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,756,578 - 40,756,811	UniSTS	GRCh37
Build 36	21	39,678,448 - 39,678,681	RGD	NCBI36
Celera	21	25,954,266 - 25,954,499	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,225,349 - 26,225,582	UniSTS

REN20365

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,756,785 - 40,757,036	UniSTS	GRCh37
Build 36	21	39,678,655 - 39,678,906	RGD	NCBI36
Celera	21	25,954,473 - 25,954,724	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,225,556 - 26,225,807	UniSTS

REN20366

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,756,986 - 40,757,210	UniSTS	GRCh37
Build 36	21	39,678,856 - 39,679,080	RGD	NCBI36
Celera	21	25,954,674 - 25,954,898	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,225,757 - 26,225,981	UniSTS

REN20367

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,757,200 - 40,757,468	UniSTS	GRCh37
Build 36	21	39,679,070 - 39,679,338	RGD	NCBI36
Celera	21	25,954,888 - 25,955,156	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,225,971 - 26,226,239	UniSTS

REN20368

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,757,464 - 40,757,717	UniSTS	GRCh37
Build 36	21	39,679,334 - 39,679,587	RGD	NCBI36
Celera	21	25,955,152 - 25,955,405	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,226,235 - 26,226,488	UniSTS

REN20369

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,757,697 - 40,757,946	UniSTS	GRCh37
Build 36	21	39,679,567 - 39,679,816	RGD	NCBI36
Celera	21	25,955,385 - 25,955,634	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,226,468 - 26,226,717	UniSTS

REN20370

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,757,905 - 40,758,167	UniSTS	GRCh37
Build 36	21	39,679,775 - 39,680,037	RGD	NCBI36
Celera	21	25,955,593 - 25,955,855	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,226,676 - 26,226,938	UniSTS

REN20371

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,758,115 - 40,758,346	UniSTS	GRCh37
Build 36	21	39,679,985 - 39,680,216	RGD	NCBI36
Celera	21	25,955,803 - 25,956,034	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,226,886 - 26,227,117	UniSTS

REN20372

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,758,301 - 40,758,528	UniSTS	GRCh37
Build 36	21	39,680,171 - 39,680,398	RGD	NCBI36
Celera	21	25,955,989 - 25,956,216	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,227,072 - 26,227,299	UniSTS

REN20373

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,758,500 - 40,758,745	UniSTS	GRCh37
Build 36	21	39,680,370 - 39,680,615	RGD	NCBI36
Celera	21	25,956,188 - 25,956,433	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,227,271 - 26,227,516	UniSTS

REN20374

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,758,606 - 40,758,861	UniSTS	GRCh37
Build 36	21	39,680,476 - 39,680,731	RGD	NCBI36
Celera	21	25,956,294 - 25,956,550	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,227,377 - 26,227,633	UniSTS

REN20375

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,758,846 - 40,759,075	UniSTS	GRCh37
Build 36	21	39,680,716 - 39,680,945	RGD	NCBI36
Celera	21	25,956,535 - 25,956,764	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,227,618 - 26,227,847	UniSTS

REN20376

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,759,069 - 40,759,327	UniSTS	GRCh37
Build 36	21	39,680,939 - 39,681,197	RGD	NCBI36
Celera	21	25,956,758 - 25,957,016	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,227,841 - 26,228,099	UniSTS

REN20377

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,759,303 - 40,759,554	UniSTS	GRCh37
Build 36	21	39,681,173 - 39,681,424	RGD	NCBI36
Celera	21	25,956,992 - 25,957,243	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,228,075 - 26,228,326	UniSTS

REN20378

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,759,536 - 40,759,763	UniSTS	GRCh37
Build 36	21	39,681,406 - 39,681,633	RGD	NCBI36
Celera	21	25,957,225 - 25,957,452	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,228,308 - 26,228,536	UniSTS

REN20379

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,759,740 - 40,760,005	UniSTS	GRCh37
Build 36	21	39,681,610 - 39,681,875	RGD	NCBI36
Celera	21	25,957,429 - 25,957,694	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,228,513 - 26,228,778	UniSTS

REN20380

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,759,978 - 40,760,215	UniSTS	GRCh37
Build 36	21	39,681,848 - 39,682,085	RGD	NCBI36
Celera	21	25,957,667 - 25,957,904	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,228,751 - 26,228,988	UniSTS

REN20381

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,760,189 - 40,760,435	UniSTS	GRCh37
Build 36	21	39,682,059 - 39,682,305	RGD	NCBI36
Celera	21	25,957,878 - 25,958,124	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,228,962 - 26,229,208	UniSTS

REN20382

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,760,413 - 40,760,658	UniSTS	GRCh37
Build 36	21	39,682,283 - 39,682,528	RGD	NCBI36
Celera	21	25,958,102 - 25,958,347	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,229,186 - 26,229,431	UniSTS

REN20383

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,760,636 - 40,760,906	UniSTS	GRCh37
Build 36	21	39,682,506 - 39,682,776	RGD	NCBI36
Celera	21	25,958,325 - 25,958,595	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,229,409 - 26,229,679	UniSTS

REN20384

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,760,746 - 40,760,975	UniSTS	GRCh37
Build 36	21	39,682,616 - 39,682,845	RGD	NCBI36
Celera	21	25,958,435 - 25,958,664	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,229,519 - 26,229,748	UniSTS

REN20385

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,760,943 - 40,761,191	UniSTS	GRCh37
Build 36	21	39,682,813 - 39,683,061	RGD	NCBI36
Celera	21	25,958,632 - 25,958,880	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,229,716 - 26,229,964	UniSTS

REN20386

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,761,181 - 40,761,430	UniSTS	GRCh37
Build 36	21	39,683,051 - 39,683,300	RGD	NCBI36
Celera	21	25,958,870 - 25,959,119	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,229,954 - 26,230,203	UniSTS

REN20387

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,761,407 - 40,761,680	UniSTS	GRCh37
Build 36	21	39,683,277 - 39,683,550	RGD	NCBI36
Celera	21	25,959,096 - 25,959,369	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,230,180 - 26,230,453	UniSTS

REN20388

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,761,657 - 40,761,894	UniSTS	GRCh37
Build 36	21	39,683,527 - 39,683,764	RGD	NCBI36
Celera	21	25,959,346 - 25,959,583	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,230,430 - 26,230,667	UniSTS

REN20389

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,761,886 - 40,762,138	UniSTS	GRCh37
Build 36	21	39,683,756 - 39,684,008	RGD	NCBI36
Celera	21	25,959,575 - 25,959,827	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,230,659 - 26,230,911	UniSTS

REN20390

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,762,116 - 40,762,364	UniSTS	GRCh37
Build 36	21	39,683,986 - 39,684,234	RGD	NCBI36
Celera	21	25,959,805 - 25,960,053	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,230,889 - 26,231,137	UniSTS

REN20391

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,762,355 - 40,762,603	UniSTS	GRCh37
Build 36	21	39,684,225 - 39,684,473	RGD	NCBI36
Celera	21	25,960,044 - 25,960,292	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,231,128 - 26,231,376	UniSTS

REN20392

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,762,593 - 40,762,844	UniSTS	GRCh37
Build 36	21	39,684,463 - 39,684,714	RGD	NCBI36
Celera	21	25,960,282 - 25,960,533	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,231,366 - 26,231,617	UniSTS

REN20393

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,762,813 - 40,763,037	UniSTS	GRCh37
Build 36	21	39,684,683 - 39,684,907	RGD	NCBI36
Celera	21	25,960,502 - 25,960,726	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,231,586 - 26,231,810	UniSTS

REN20394

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,762,998 - 40,763,226	UniSTS	GRCh37
Build 36	21	39,684,868 - 39,685,096	RGD	NCBI36
Celera	21	25,960,687 - 25,960,915	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,231,771 - 26,231,999	UniSTS

REN20395

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,763,195 - 40,763,457	UniSTS	GRCh37
Build 36	21	39,685,065 - 39,685,327	RGD	NCBI36
Celera	21	25,960,884 - 25,961,146	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,231,968 - 26,232,230	UniSTS

REN20396

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,763,381 - 40,763,637	UniSTS	GRCh37
Build 36	21	39,685,251 - 39,685,507	RGD	NCBI36
Celera	21	25,961,070 - 25,961,326	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,232,154 - 26,232,410	UniSTS

REN20397

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,763,602 - 40,763,849	UniSTS	GRCh37
Build 36	21	39,685,472 - 39,685,719	RGD	NCBI36
Celera	21	25,961,291 - 25,961,538	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,232,375 - 26,232,622	UniSTS

REN20398

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,763,830 - 40,764,070	UniSTS	GRCh37
Build 36	21	39,685,700 - 39,685,940	RGD	NCBI36
Celera	21	25,961,519 - 25,961,759	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,232,603 - 26,232,843	UniSTS

REN20399

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,764,061 - 40,764,313	UniSTS	GRCh37
Build 36	21	39,685,931 - 39,686,183	RGD	NCBI36
Celera	21	25,961,750 - 25,962,002	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,232,834 - 26,233,086	UniSTS

REN20400

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,764,311 - 40,764,546	UniSTS	GRCh37
Build 36	21	39,686,181 - 39,686,416	RGD	NCBI36
Celera	21	25,962,000 - 25,962,236	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,233,084 - 26,233,320	UniSTS

REN20401

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,764,519 - 40,764,762	UniSTS	GRCh37
Build 36	21	39,686,389 - 39,686,632	RGD	NCBI36
Celera	21	25,962,209 - 25,962,452	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,233,293 - 26,233,536	UniSTS

REN20402

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,764,739 - 40,764,998	UniSTS	GRCh37
Build 36	21	39,686,609 - 39,686,868	RGD	NCBI36
Celera	21	25,962,429 - 25,962,688	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,233,513 - 26,233,772	UniSTS

REN20403

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,764,996 - 40,765,248	UniSTS	GRCh37
Build 36	21	39,686,866 - 39,687,118	RGD	NCBI36
Celera	21	25,962,686 - 25,962,938	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,233,770 - 26,234,022	UniSTS

REN20404

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,765,225 - 40,765,482	UniSTS	GRCh37
Build 36	21	39,687,095 - 39,687,352	RGD	NCBI36
Celera	21	25,962,915 - 25,963,172	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,233,999 - 26,234,256	UniSTS

REN20405

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,765,350 - 40,765,579	UniSTS	GRCh37
Build 36	21	39,687,220 - 39,687,449	RGD	NCBI36
Celera	21	25,963,040 - 25,963,269	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,234,124 - 26,234,353	UniSTS

REN20406

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,766,197 - 40,766,425	UniSTS	GRCh37
Build 36	21	39,688,067 - 39,688,295	RGD	NCBI36
Celera	21	25,963,887 - 25,964,115	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,234,939 - 26,235,167	UniSTS

REN20407

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,766,408 - 40,766,676	UniSTS	GRCh37
Build 36	21	39,688,278 - 39,688,546	RGD	NCBI36
Celera	21	25,964,098 - 25,964,366	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,235,150 - 26,235,418	UniSTS

REN20408

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,766,635 - 40,766,883	UniSTS	GRCh37
Build 36	21	39,688,505 - 39,688,753	RGD	NCBI36
Celera	21	25,964,325 - 25,964,573	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,235,377 - 26,235,625	UniSTS

REN20409

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,766,851 - 40,767,095	UniSTS	GRCh37
Build 36	21	39,688,721 - 39,688,965	RGD	NCBI36
Celera	21	25,964,541 - 25,964,785	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,235,593 - 26,235,837	UniSTS

REN20410

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,068 - 40,767,292	UniSTS	GRCh37
Build 36	21	39,688,938 - 39,689,162	RGD	NCBI36
Celera	21	25,964,758 - 25,964,982	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,235,810 - 26,236,034	UniSTS

REN20411

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,225 - 40,767,460	UniSTS	GRCh37
Build 36	21	39,689,095 - 39,689,330	RGD	NCBI36
Celera	21	25,964,915 - 25,965,149	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,235,967 - 26,236,201	UniSTS

REN20412

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,440 - 40,767,680	UniSTS	GRCh37
Build 36	21	39,689,310 - 39,689,550	RGD	NCBI36
Celera	21	25,965,129 - 25,965,369	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,236,181 - 26,236,421	UniSTS

REN20413

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,648 - 40,767,907	UniSTS	GRCh37
Build 36	21	39,689,518 - 39,689,777	RGD	NCBI36
Celera	21	25,965,337 - 25,965,596	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,236,389 - 26,236,648	UniSTS

REN20414

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,884 - 40,768,113	UniSTS	GRCh37
Build 36	21	39,689,754 - 39,689,983	RGD	NCBI36
Celera	21	25,965,573 - 25,965,802	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,236,625 - 26,236,854	UniSTS

REN20415

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,916 - 40,768,157	UniSTS	GRCh37
Build 36	21	39,689,786 - 39,690,027	RGD	NCBI36
Celera	21	25,965,605 - 25,965,846	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,236,657 - 26,236,898	UniSTS

REN20416

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,768,628 - 40,768,854	UniSTS	GRCh37
Build 36	21	39,690,498 - 39,690,724	RGD	NCBI36
Celera	21	25,966,316 - 25,966,542	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,237,368 - 26,237,594	UniSTS

REN20417

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,768,828 - 40,769,077	UniSTS	GRCh37
Build 36	21	39,690,698 - 39,690,947	RGD	NCBI36
Celera	21	25,966,516 - 25,966,765	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,237,568 - 26,237,817	UniSTS

REN20418

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,768,996 - 40,769,221	UniSTS	GRCh37
Build 36	21	39,690,866 - 39,691,091	RGD	NCBI36
Celera	21	25,966,684 - 25,966,909	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,237,736 - 26,237,961	UniSTS

REN20419

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,769,151 - 40,769,414	UniSTS	GRCh37
Build 36	21	39,691,021 - 39,691,284	RGD	NCBI36
Celera	21	25,966,839 - 25,967,102	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,237,891 - 26,238,154	UniSTS

REN20420

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,769,391 - 40,769,647	UniSTS	GRCh37
GRCh37	12	30,696,469 - 30,696,726	UniSTS	GRCh37
Build 36	12	30,587,736 - 30,587,993	RGD	NCBI36
Celera	21	25,967,079 - 25,967,340	UniSTS
Celera	12	35,839,297 - 35,839,554	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,238,131 - 26,238,392	UniSTS
HuRef	12	30,461,722 - 30,461,979	UniSTS

REN20421

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,769,628 - 40,769,900	UniSTS	GRCh37
Build 36	21	39,691,498 - 39,691,770	RGD	NCBI36
Celera	21	25,967,321 - 25,967,593	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,238,373 - 26,238,645	UniSTS

REN20422

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,769,884 - 40,770,127	UniSTS	GRCh37
Build 36	21	39,691,754 - 39,691,997	RGD	NCBI36
Celera	21	25,967,577 - 25,967,820	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,238,629 - 26,238,872	UniSTS

REN20491

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,785,913 - 40,786,144	UniSTS	GRCh37
Build 36	21	39,707,783 - 39,708,014	RGD	NCBI36
Celera	21	25,983,607 - 25,983,838	RGD
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,254,759 - 26,254,990	UniSTS

SHGC-24182

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,769,505 - 40,769,604	UniSTS	GRCh37
Build 36	21	39,691,375 - 39,691,474	RGD	NCBI36
Celera	21	25,967,193 - 25,967,292	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,238,245 - 26,238,344	UniSTS
GeneMap99-G3 RH Map	21	1311.0	UniSTS

stSG622737

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,750,288 - 40,751,292	UniSTS	GRCh37
Build 36	21	39,672,158 - 39,673,162	RGD	NCBI36
Celera	21	25,947,976 - 25,948,980	RGD
HuRef	21	26,219,072 - 26,220,064	UniSTS

stSG622738

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,751,273 - 40,752,378	UniSTS	GRCh37
Build 36	21	39,673,143 - 39,674,248	RGD	NCBI36
Celera	21	25,948,961 - 25,950,066	RGD
HuRef	21	26,220,045 - 26,221,150	UniSTS

stSG622739

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,752,361 - 40,753,389	UniSTS	GRCh37
Build 36	21	39,674,231 - 39,675,259	RGD	NCBI36
Celera	21	25,950,049 - 25,951,077	RGD
HuRef	21	26,221,133 - 26,222,161	UniSTS

stSG622740

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,753,368 - 40,753,566	UniSTS	GRCh37
Build 36	21	39,675,238 - 39,675,436	RGD	NCBI36
Celera	21	25,951,056 - 25,951,254	RGD
HuRef	21	26,222,140 - 26,222,338	UniSTS

stSG622741

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,756,680 - 40,757,772	UniSTS	GRCh37
Build 36	21	39,678,550 - 39,679,642	RGD	NCBI36
Celera	21	25,954,368 - 25,955,460	RGD
HuRef	21	26,225,451 - 26,226,543	UniSTS

stSG622742

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,757,811 - 40,759,200	UniSTS	GRCh37
Build 36	21	39,679,681 - 39,681,070	RGD	NCBI36
Celera	21	25,955,499 - 25,956,889	RGD
HuRef	21	26,226,582 - 26,227,972	UniSTS

stSG622743

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,759,181 - 40,760,518	UniSTS	GRCh37
Build 36	21	39,681,051 - 39,682,388	RGD	NCBI36
Celera	21	25,956,870 - 25,958,207	RGD
HuRef	21	26,227,953 - 26,229,291	UniSTS

stSG622744

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,760,509 - 40,761,849	UniSTS	GRCh37
Build 36	21	39,682,379 - 39,683,719	RGD	NCBI36
Celera	21	25,958,198 - 25,959,538	RGD
HuRef	21	26,229,282 - 26,230,622	UniSTS

stSG622745

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,761,830 - 40,763,137	UniSTS	GRCh37
Build 36	21	39,683,700 - 39,685,007	RGD	NCBI36
Celera	21	25,959,519 - 25,960,826	RGD
HuRef	21	26,230,603 - 26,231,910	UniSTS

stSG622746

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,763,118 - 40,764,432	UniSTS	GRCh37
Build 36	21	39,684,988 - 39,686,302	RGD	NCBI36
Celera	21	25,960,807 - 25,962,121	RGD
HuRef	21	26,231,891 - 26,233,205	UniSTS

stSG622747

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,764,413 - 40,765,498	UniSTS	GRCh37
Build 36	21	39,686,283 - 39,687,368	RGD	NCBI36
Celera	21	25,962,102 - 25,963,188	RGD
HuRef	21	26,233,186 - 26,234,272	UniSTS

stSG622748

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,767,595 - 40,768,682	UniSTS	GRCh37
Build 36	21	39,689,465 - 39,690,552	RGD	NCBI36
Celera	21	25,965,284 - 25,966,370	RGD
HuRef	21	26,236,336 - 26,237,422	UniSTS

stSG622749

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,768,757 - 40,770,129	UniSTS	GRCh37
Build 36	21	39,690,627 - 39,691,999	RGD	NCBI36
Celera	21	25,966,445 - 25,967,822	RGD
HuRef	21	26,237,497 - 26,238,874	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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1445

1218

1166

101

279

1817

891

3495

271

1184

1149

505

1264

Low

994

1710

560

522

1612

373

2539

1304

239

147

274

464

155

699

1524

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_045002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001146218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001350293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001350294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001350295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001350296	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF064861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF121781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299245	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL163279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW001614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111393	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB498697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB500750	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y12478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000380708 ⟹ ENSP00000370084

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,387,765 - 39,397,889 (+)	Ensembl

RefSeq Acc Id:

ENST00000380713 ⟹ ENSP00000370089

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,386,093 - 39,393,280 (+)	Ensembl

RefSeq Acc Id:

ENST00000398753 ⟹ ENSP00000381737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,458 - 39,397,116 (+)	Ensembl

RefSeq Acc Id:

ENST00000415847 ⟹ ENSP00000410228

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,377,698 - 39,406,615 (+)	Ensembl

RefSeq Acc Id:

ENST00000442773 ⟹ ENSP00000409030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,487 - 39,390,803 (+)	Ensembl

RefSeq Acc Id:

ENST00000466787 ⟹ ENSP00000485215

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,387,791 - 39,397,254 (+)	Ensembl

RefSeq Acc Id:

ENST00000471468

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,414 - 39,391,205 (+)	Ensembl

RefSeq Acc Id:

ENST00000476914

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,425,871 - 39,428,528 (+)	Ensembl

RefSeq Acc Id:

ENST00000478273 ⟹ ENSP00000485087

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,410,869 - 39,428,528 (+)	Ensembl

RefSeq Acc Id:

ENST00000480690

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,425,919 - 39,428,528 (+)	Ensembl

RefSeq Acc Id:

ENST00000487869

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,394 - 39,392,046 (+)	Ensembl

RefSeq Acc Id:

ENST00000490860

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,392,896 - 39,397,104 (+)	Ensembl

RefSeq Acc Id:

ENST00000623703 ⟹ ENSP00000485555

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,354 - 39,414,288 (+)	Ensembl

RefSeq Acc Id:

ENST00000647678 ⟹ ENSP00000497322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,379,539 - 39,397,887 (+)	Ensembl

RefSeq Acc Id:

ENST00000647911 ⟹ ENSP00000497171

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,368 - 39,428,481 (+)	Ensembl

RefSeq Acc Id:

ENST00000648495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,412,418 - 39,428,500 (+)	Ensembl

RefSeq Acc Id:

ENST00000649100 ⟹ ENSP00000497111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,372 - 39,415,390 (+)	Ensembl

RefSeq Acc Id:

ENST00000649170 ⟹ ENSP00000496813

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,326 - 39,397,889 (+)	Ensembl

RefSeq Acc Id:

ENST00000649224 ⟹ ENSP00000497189

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,414 - 39,397,485 (+)	Ensembl

RefSeq Acc Id:

ENST00000649499 ⟹ ENSP00000497593

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,390,829 - 39,428,504 (+)	Ensembl

RefSeq Acc Id:

ENST00000649822 ⟹ ENSP00000498209

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,380,478 - 39,397,888 (+)	Ensembl

RefSeq Acc Id:

ENST00000650208

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,390,860 - 39,428,326 (+)	Ensembl

RefSeq Acc Id:

ENST00000650376 ⟹ ENSP00000497103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,379,571 - 39,397,743 (+)	Ensembl

RefSeq Acc Id:

NM_001146218 ⟹ NP_001139690

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,387,781 - 39,397,889 (+)	NCBI
GRCh37	21	40,752,213 - 40,769,815 (+)	RGD
Celera	21	25,949,901 - 25,967,508 (+)	RGD
HuRef	21	26,220,985 - 26,238,560 (+)	ENTREZGENE
CHM1_1	21	40,320,851 - 40,330,979 (+)	NCBI
T2T-CHM13v2.0	21	37,772,367 - 37,782,474 (+)	NCBI

Sequence:

show sequence

AGGCGACTGGCGGGTCGCGGCTTCCAAGCTCTAAATGGAGAGTTGTCCCTACTGTGCGGCAGGC
GGAGGAGACCTATGTCCAGGGTGCTGCAGAAGGACGCGGAGCAGGAGTCACAGATGAGAGCGGA
GATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGATGGACGAGTTTGCCAGATATGCC
AGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAAACCCATGTGAAAGCTCGGACAG
CTCAATTAGCCAAGATAAAATGGGTGATAAGTGTCGCTTTCTACGTATTGCAGGCTGCCCTGAT
GATCTCACTCATTTGGAAGTATTATTCTGTCCCTGTGGCTGTCGTGCCGAGTAAATGGATAACC
CCTCTAGACCGCCTGGTAGCCTTTCCTACTAGAGTAGCAGGTGGTGTTGGAATTACCTGTTGGA
TTTTAGTCTGTAACAAAGTTGTCGCTATTGTGCTTCATCCGTTCAGCTGAACAGGAGGATGGAT
ACAGCCGCGAGGCTAAAAAACGGATTTCCTCTTCCTAGCTTAAAATCTGATTTACACTGTTTTG
TTTTTTAAGAAACAAAAGTGCATAGTTTAGATTTTTTTTTTGTTGAATATGTTTGTTCTTGGAC
TTTATGAGAGAGTCTTATAAGAATCACGATTTTCTACACCTGTCATTGAGCCAAGAAAGTCCAG
TTTATGACACGTATGTACTAGTGAACACCGTCCTCGATCTGTACGAAATGTGAAATGTTTAGGG
ACATCTCCATGCTGTCACTTGTGATTTGCCCTCTTATGTATTTTGGTCATATTGCCAACTGGAA
AGTCAAAATTTTCTAACAACTTTAAGTAAGTTCTTTGAAGACTTAGTGCTGTTTTTAATCCAGT
TTAGAAAGTAACTTAATTTTAATACCACTACTAAAAATTCGAAAATTTCTTCTTTAATCACATT
CAATATGGTTAAAAGAACAACACTAATTGACATTGCGTGGGCTTTTTCTCCCTTTGTTTAAAAT
GTCATTTGTTGAGCAAGAGTTGTATAGTATTATCTACTTACTTGAGGCTGTTAATTTTTCATTA
CAGTGTTTTGTAAATGTATCCACGAGACCATGATGCATTGTTTTGTGCTCAACTTGTGTTTTGT
ATTTAAAGCATTTTGAATGAAGTGTATTTTATAAGCATTTAATATTTATGCTCTTTAGAATGGA
ACACAGAAAACAAACCTTATAAGTCCTGATTAATCTGAACCAATAACCTGTGTGGCCTACAAAG
TATAATTCTATTAAATGTTCCTTAAAACACTTTTTTCTAATTAAAATCTTTGCAAATGCTTGTG
TAACTTCCTGCCTTACAGCTACTTGTTTGCTGTGAGCCACCCGCAACTGACAAGTGGCTGTTAA
CTGAGTCACCATATCCCAGTAAAGCTGAATTTTCTCACTA

hide sequence

RefSeq Acc Id:

NM_001350293 ⟹ NP_001337222

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,380,458 - 39,397,889 (+)	NCBI
T2T-CHM13v2.0	21	37,765,044 - 37,782,474 (+)	NCBI

Sequence:

show sequence

GGATCCTCCTCCCGTCCTTCTCATCCTTCGTAAGTGGCTGCCTGGCCTCCCAAGGGCCGGTGGG
GATGCCGCCCCAGTCCCCCGGCGGGTCTGGCATGTCCAGGGTGCTGCAGAAGGACGCGGAGCAG
GAGTCACAGATGAGAGCGGAGATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGATGG
ACGAGTTTGCCAGATATGCCAGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAAAC
CCATGTGAAAGCTCGGACAGCTCAATTAGCCAAGATAAAATGGGTGATAAGTGTCGCTTTCTAC
GTATTGCAGGCTGCCCTGATGATCTCACTCATTTGGAAGTATTATTCTGTCCCTGTGGCTGTCG
TGCCGAGTAAATGGATAACCCCTCTAGACCGCCTGGTAGCCTTTCCTACTAGAGTAGCAGGTGG
TGTTGGAATTACCTGTTGGATTTTAGTCTGTAACAAAGTTGTCGCTATTGTGCTTCATCCGTTC
AGCTGAACAGGAGGATGGATACAGCCGCGAGGCTAAAAAACGGATTTCCTCTTCCTAGCTTAAA
ATCTGATTTACACTGTTTTGTTTTTTAAGAAACAAAAGTGCATAGTTTAGATTTTTTTTTTGTT
GAATATGTTTGTTCTTGGACTTTATGAGAGAGTCTTATAAGAATCACGATTTTCTACACCTGTC
ATTGAGCCAAGAAAGTCCAGTTTATGACACGTATGTACTAGTGAACACCGTCCTCGATCTGTAC
GAAATGTGAAATGTTTAGGGACATCTCCATGCTGTCACTTGTGATTTGCCCTCTTATGTATTTT
GGTCATATTGCCAACTGGAAAGTCAAAATTTTCTAACAACTTTAAGTAAGTTCTTTGAAGACTT
AGTGCTGTTTTTAATCCAGTTTAGAAAGTAACTTAATTTTAATACCACTACTAAAAATTCGAAA
ATTTCTTCTTTAATCACATTCAATATGGTTAAAAGAACAACACTAATTGACATTGCGTGGGCTT
TTTCTCCCTTTGTTTAAAATGTCATTTGTTGAGCAAGAGTTGTATAGTATTATCTACTTACTTG
AGGCTGTTAATTTTTCATTACAGTGTTTTGTAAATGTATCCACGAGACCATGATGCATTGTTTT
GTGCTCAACTTGTGTTTTGTATTTAAAGCATTTTGAATGAAGTGTATTTTATAAGCATTTAATA
TTTATGCTCTTTAGAATGGAACACAGAAAACAAACCTTATAAGTCCTGATTAATCTGAACCAAT
AACCTGTGTGGCCTACAAAGTATAATTCTATTAAATGTTCCTTAAAACACTTTTTTCTAATTAA
AATCTTTGCAAATGCTTGTGTAACTTCCTGCCTTACAGCTACTTGTTTGCTGTGAGCCACCCGC
AACTGACAAGTGGCTGTTAACTGAGTCACCATATCCCAGTAAAGCTGAATTTTCTCACTA

hide sequence

RefSeq Acc Id:

NM_001350294 ⟹ NP_001337223

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,380,326 - 39,397,889 (+)	NCBI
T2T-CHM13v2.0	21	37,764,912 - 37,782,474 (+)	NCBI

Sequence:

show sequence

GTTGTTGTGGTCCCCATGGAGCTGCCGTAGCGGACCCAGCACAGCCAGGAGCGTCCGGGATGAG
CTCAGCCGCGGCCGACCACTGGGCGTGGTTGCTGGTGCTCAGCTTCGTGTTTGGATGCAATGTT
CTTAGGATCCTCCTCCCGTCCTTCTCATCCTTCGTAAGTGGCTGCCTGGCCTCCCAAGGGCCGG
TGGGGATGCCGCCCCAGTCCCCCGGCGGGTCTGGCGTAGATGTCCAGGGTGCTGCAGAAGGACG
CGGAGCAGGAGTCACAGATGAGAGCGGAGATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAA
CATGATGGACGAGTTTGCCAGATATGCCAGGCTGGAAAGAAAGATCAACAAGATGACGGATAAG
CTCAAAACCCATGTGAAAGCTCGGACAGCTCAATTAGCCAAGATAAAATGGGTGATAAGTGTCG
CTTTCTACGTATTGCAGGCTGCCCTGATGATCTCACTCATTTGGAAGTATTATTCTGTCCCTGT
GGCTGTCGTGCCGAGTAAATGGATAACCCCTCTAGACCGCCTGGTAGCCTTTCCTACTAGAGTA
GCAGGTGGTGTTGGAATTACCTGTTGGATTTTAGTCTGTAACAAAGTTGTCGCTATTGTGCTTC
ATCCGTTCAGCTGAACAGGAGGATGGATACAGCCGCGAGGCTAAAAAACGGATTTCCTCTTCCT
AGCTTAAAATCTGATTTACACTGTTTTGTTTTTTAAGAAACAAAAGTGCATAGTTTAGATTTTT
TTTTTGTTGAATATGTTTGTTCTTGGACTTTATGAGAGAGTCTTATAAGAATCACGATTTTCTA
CACCTGTCATTGAGCCAAGAAAGTCCAGTTTATGACACGTATGTACTAGTGAACACCGTCCTCG
ATCTGTACGAAATGTGAAATGTTTAGGGACATCTCCATGCTGTCACTTGTGATTTGCCCTCTTA
TGTATTTTGGTCATATTGCCAACTGGAAAGTCAAAATTTTCTAACAACTTTAAGTAAGTTCTTT
GAAGACTTAGTGCTGTTTTTAATCCAGTTTAGAAAGTAACTTAATTTTAATACCACTACTAAAA
ATTCGAAAATTTCTTCTTTAATCACATTCAATATGGTTAAAAGAACAACACTAATTGACATTGC
GTGGGCTTTTTCTCCCTTTGTTTAAAATGTCATTTGTTGAGCAAGAGTTGTATAGTATTATCTA
CTTACTTGAGGCTGTTAATTTTTCATTACAGTGTTTTGTAAATGTATCCACGAGACCATGATGC
ATTGTTTTGTGCTCAACTTGTGTTTTGTATTTAAAGCATTTTGAATGAAGTGTATTTTATAAGC
ATTTAATATTTATGCTCTTTAGAATGGAACACAGAAAACAAACCTTATAAGTCCTGATTAATCT
GAACCAATAACCTGTGTGGCCTACAAAGTATAATTCTATTAAATGTTCCTTAAAACACTTTTTT
CTAATTAAAATCTTTGCAAATGCTTGTGTAACTTCCTGCCTTACAGCTACTTGTTTGCTGTGAG
CCACCCGCAACTGACAAGTGGCTGTTAACTGAGTCACCATATCCCAGTAAAGCTGAATTTTCTC
ACTA

hide sequence

RefSeq Acc Id:

NM_001350295 ⟹ NP_001337224

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,380,326 - 39,397,889 (+)	NCBI
T2T-CHM13v2.0	21	37,764,912 - 37,782,474 (+)	NCBI

Sequence:

show sequence

GTTGTTGTGGTCCCCATGGAGCTGCCGTAGCGGACCCAGCACAGCCAGGAGCGTCCGGGATGAG
CTCAGCCGCGGCCGACCACTGGGCGTGGTTGCTGGTGCTCAGCTTCGTGTTTGGATGCAATGTT
CTTAGGATCCTCCTCCCGTCCTTCTCATCCTTCGTAAGTGGCTGCCTGGCCTCCCAAGGGCCGG
TGGGGATGCCGCCCCAGTCCCCCGGCGGGTCTGGCGTAGGTACAGGGGTCTCAACTGGGCGACT
GAAGGCCGTAGTAGCGTCTTGGTTGGTCCGTAAGCTTTTTTGAGATAGTTGTTAGCGTCTAAAA
GATGTCCAGGGTGCTGCAGAAGGACGCGGAGCAGGAGTCACAGATGAGAGCGGAGATCCAGGAC
ATGAAGCAGGAGCTCTCCACAGTCAACATGATGGACGAGTTTGCCAGATATGCCAGGCTGGAAA
GAAAGATCAACAAGATGACGGATAAGCTCAAAACCCATGTGAAAGCTCGGACAGCTCAATTAGC
CAAGATAAAATGGGTGATAAGTGTCGCTTTCTACGTATTGCAGGCTGCCCTGATGATCTCACTC
ATTTGGAAGTATTATTCTGTCCCTGTGGCTGTCGTGCCGAGTAAATGGATAACCCCTCTAGACC
GCCTGGTAGCCTTTCCTACTAGAGTAGCAGGTGGTGTTGGAATTACCTGTTGGATTTTAGTCTG
TAACAAAGTTGTCGCTATTGTGCTTCATCCGTTCAGCTGAACAGGAGGATGGATACAGCCGCGA
GGCTAAAAAACGGATTTCCTCTTCCTAGCTTAAAATCTGATTTACACTGTTTTGTTTTTTAAGA
AACAAAAGTGCATAGTTTAGATTTTTTTTTTGTTGAATATGTTTGTTCTTGGACTTTATGAGAG
AGTCTTATAAGAATCACGATTTTCTACACCTGTCATTGAGCCAAGAAAGTCCAGTTTATGACAC
GTATGTACTAGTGAACACCGTCCTCGATCTGTACGAAATGTGAAATGTTTAGGGACATCTCCAT
GCTGTCACTTGTGATTTGCCCTCTTATGTATTTTGGTCATATTGCCAACTGGAAAGTCAAAATT
TTCTAACAACTTTAAGTAAGTTCTTTGAAGACTTAGTGCTGTTTTTAATCCAGTTTAGAAAGTA
ACTTAATTTTAATACCACTACTAAAAATTCGAAAATTTCTTCTTTAATCACATTCAATATGGTT
AAAAGAACAACACTAATTGACATTGCGTGGGCTTTTTCTCCCTTTGTTTAAAATGTCATTTGTT
GAGCAAGAGTTGTATAGTATTATCTACTTACTTGAGGCTGTTAATTTTTCATTACAGTGTTTTG
TAAATGTATCCACGAGACCATGATGCATTGTTTTGTGCTCAACTTGTGTTTTGTATTTAAAGCA
TTTTGAATGAAGTGTATTTTATAAGCATTTAATATTTATGCTCTTTAGAATGGAACACAGAAAA
CAAACCTTATAAGTCCTGATTAATCTGAACCAATAACCTGTGTGGCCTACAAAGTATAATTCTA
TTAAATGTTCCTTAAAACACTTTTTTCTAATTAAAATCTTTGCAAATGCTTGTGTAACTTCCTG
CCTTACAGCTACTTGTTTGCTGTGAGCCACCCGCAACTGACAAGTGGCTGTTAACTGAGTCACC
ATATCCCAGTAAAGCTGAATTTTCTCACTA

hide sequence

RefSeq Acc Id:

NM_001350296 ⟹ NP_001337225

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,380,326 - 39,397,889 (+)	NCBI
T2T-CHM13v2.0	21	37,764,912 - 37,782,474 (+)	NCBI

Sequence:

show sequence

GTTGTTGTGGTCCCCATGGAGCTGCCGTAGCGGACCCAGCACAGCCAGGAGCGTCCGGGATGAG
CTCAGCCGCGGCCGACCACTGGGCGTGGTTGCTGGTGCTCAGCTTCGTGTTTGGATGCAATGTT
CTTAGGATCCTCCTCCCGTCCTTCTCATCCTTCGTAAGTGGCTGCCTGGCCTCCCAAGGGCCGG
TGGGGATGCCGCCCCAGTCCCCCGGCGGGTCTGGCGTAGGTACAGGGGTCTCAACTGGGCGACT
GAAGGCCGTAGTAGCGTCTTGGTTGGTCCGTAAGCTTTTTTGAGATAGTTGTTAGCGTCTAAAA
GGTACGACGCTTTACCCCAAAATCAGACTTTCTGGGTTCTAGGGGGTTGGGAGAAACACCGGGC
AACCCTGGACTCTTCTGGCTGTGGGTGGCGGCGGCGAACCTCACACTGGGAGTTCCTAGTGCCC
CGCTGTCAGCCTCGTTTCCGTTAATCCTGGTTCCTAGAGGCATTCGAGCAGCCCTCGGCCAGGG
TTTCCCAGAGGCCTGGCGGGCGAAGTCAGCTGTTCCAGGTCCCGGAGAGATGGATCCTCGCGTC
CAGGAGCCCACATTCTTGGGATGTCCAGGGTGCTGCAGAAGGACGCGGAGCAGGAGTCACAGAT
GAGAGCGGAGATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGATGGACGAGTTTGCC
AGATATGCCAGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAAACCCATGTGAAAG
CTCGGACAGCTCAATTAGCCAAGATAAAATGGGTGATAAGTGTCGCTTTCTACGTATTGCAGGC
TGCCCTGATGATCTCACTCATTTGGAAGTATTATTCTGTCCCTGTGGCTGTCGTGCCGAGTAAA
TGGATAACCCCTCTAGACCGCCTGGTAGCCTTTCCTACTAGAGTAGCAGGTGGTGTTGGAATTA
CCTGTTGGATTTTAGTCTGTAACAAAGTTGTCGCTATTGTGCTTCATCCGTTCAGCTGAACAGG
AGGATGGATACAGCCGCGAGGCTAAAAAACGGATTTCCTCTTCCTAGCTTAAAATCTGATTTAC
ACTGTTTTGTTTTTTAAGAAACAAAAGTGCATAGTTTAGATTTTTTTTTTGTTGAATATGTTTG
TTCTTGGACTTTATGAGAGAGTCTTATAAGAATCACGATTTTCTACACCTGTCATTGAGCCAAG
AAAGTCCAGTTTATGACACGTATGTACTAGTGAACACCGTCCTCGATCTGTACGAAATGTGAAA
TGTTTAGGGACATCTCCATGCTGTCACTTGTGATTTGCCCTCTTATGTATTTTGGTCATATTGC
CAACTGGAAAGTCAAAATTTTCTAACAACTTTAAGTAAGTTCTTTGAAGACTTAGTGCTGTTTT
TAATCCAGTTTAGAAAGTAACTTAATTTTAATACCACTACTAAAAATTCGAAAATTTCTTCTTT
AATCACATTCAATATGGTTAAAAGAACAACACTAATTGACATTGCGTGGGCTTTTTCTCCCTTT
GTTTAAAATGTCATTTGTTGAGCAAGAGTTGTATAGTATTATCTACTTACTTGAGGCTGTTAAT
TTTTCATTACAGTGTTTTGTAAATGTATCCACGAGACCATGATGCATTGTTTTGTGCTCAACTT
GTGTTTTGTATTTAAAGCATTTTGAATGAAGTGTATTTTATAAGCATTTAATATTTATGCTCTT
TAGAATGGAACACAGAAAACAAACCTTATAAGTCCTGATTAATCTGAACCAATAACCTGTGTGG
CCTACAAAGTATAATTCTATTAAATGTTCCTTAAAACACTTTTTTCTAATTAAAATCTTTGCAA
ATGCTTGTGTAACTTCCTGCCTTACAGCTACTTGTTTGCTGTGAGCCACCCGCAACTGACAAGT
GGCTGTTAACTGAGTCACCATATCCCAGTAAAGCTGAATTTTCTCACTA

hide sequence

RefSeq Acc Id:

NM_004627 ⟹ NP_004618

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,380,326 - 39,397,889 (+)	NCBI
GRCh37	21	40,752,213 - 40,769,815 (+)	RGD
Build 36	21	39,674,140 - 39,691,496 (+)	NCBI Archive
Celera	21	25,949,901 - 25,967,508 (+)	RGD
HuRef	21	26,220,985 - 26,238,560 (+)	ENTREZGENE
CHM1_1	21	40,313,371 - 40,330,979 (+)	NCBI
T2T-CHM13v2.0	21	37,764,912 - 37,782,474 (+)	NCBI

Sequence:

show sequence

GTTGTTGTGGTCCCCATGGAGCTGCCGTAGCGGACCCAGCACAGCCAGGAGCGTCCGGGATGAG
CTCAGCCGCGGCCGACCACTGGGCGTGGTTGCTGGTGCTCAGCTTCGTGTTTGGATGCAATGTT
CTTAGGATCCTCCTCCCGTCCTTCTCATCCTTCATGTCCAGGGTGCTGCAGAAGGACGCGGAGC
AGGAGTCACAGATGAGAGCGGAGATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGAT
GGACGAGTTTGCCAGATATGCCAGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAA
ACCCATGTGAAAGCTCGGACAGCTCAATTAGCCAAGATAAAATGGGTGATAAGTGTCGCTTTCT
ACGTATTGCAGGCTGCCCTGATGATCTCACTCATTTGGAAGTATTATTCTGTCCCTGTGGCTGT
CGTGCCGAGTAAATGGATAACCCCTCTAGACCGCCTGGTAGCCTTTCCTACTAGAGTAGCAGGT
GGTGTTGGAATTACCTGTTGGATTTTAGTCTGTAACAAAGTTGTCGCTATTGTGCTTCATCCGT
TCAGCTGAACAGGAGGATGGATACAGCCGCGAGGCTAAAAAACGGATTTCCTCTTCCTAGCTTA
AAATCTGATTTACACTGTTTTGTTTTTTAAGAAACAAAAGTGCATAGTTTAGATTTTTTTTTTG
TTGAATATGTTTGTTCTTGGACTTTATGAGAGAGTCTTATAAGAATCACGATTTTCTACACCTG
TCATTGAGCCAAGAAAGTCCAGTTTATGACACGTATGTACTAGTGAACACCGTCCTCGATCTGT
ACGAAATGTGAAATGTTTAGGGACATCTCCATGCTGTCACTTGTGATTTGCCCTCTTATGTATT
TTGGTCATATTGCCAACTGGAAAGTCAAAATTTTCTAACAACTTTAAGTAAGTTCTTTGAAGAC
TTAGTGCTGTTTTTAATCCAGTTTAGAAAGTAACTTAATTTTAATACCACTACTAAAAATTCGA
AAATTTCTTCTTTAATCACATTCAATATGGTTAAAAGAACAACACTAATTGACATTGCGTGGGC
TTTTTCTCCCTTTGTTTAAAATGTCATTTGTTGAGCAAGAGTTGTATAGTATTATCTACTTACT
TGAGGCTGTTAATTTTTCATTACAGTGTTTTGTAAATGTATCCACGAGACCATGATGCATTGTT
TTGTGCTCAACTTGTGTTTTGTATTTAAAGCATTTTGAATGAAGTGTATTTTATAAGCATTTAA
TATTTATGCTCTTTAGAATGGAACACAGAAAACAAACCTTATAAGTCCTGATTAATCTGAACCA
ATAACCTGTGTGGCCTACAAAGTATAATTCTATTAAATGTTCCTTAAAACACTTTTTTCTAATT
AAAATCTTTGCAAATGCTTGTGTAACTTCCTGCCTTACAGCTACTTGTTTGCTGTGAGCCACCC
GCAACTGACAAGTGGCTGTTAACTGAGTCACCATATCCCAGTAAAGCTGAATTTTCTCACTA

hide sequence

RefSeq Acc Id:

NR_146614

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,380,326 - 39,397,889 (+)	NCBI
T2T-CHM13v2.0	21	37,764,912 - 37,782,474 (+)	NCBI

Sequence:

show sequence

GTTGTTGTGGTCCCCATGGAGCTGCCGTAGCGGACCCAGCACAGCCAGGAGCGTCCGGGATGAG
CTCAGCCGCGGCCGACCACTGGGCGTGGTTGCTGGTGCTCAGCTTCGTGTTTGGATGCAATGTT
CTTAGGATCCTCCTCCCGTCCTTCTCATCCTTCATGTCCAGGGTGCTGCAGAAGGACGCGGAGC
AGGAGTCACAGATGAGAGCGGAGATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGAT
GGACGAGTTTGCCAGATATGCCAGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAA
ACCCATGGTACTGTGTCCCTTGCAGCCTGGAGGCTTCATGAGAGCGGATGAATAGAGAAGTCTG
TATGTGAAGATTAGTAGAATACATACTTTGCTTCTTGGATGTTCTGAATATTGATGGAAACTTA
AGTTATCTGGAGGAAACTCAGTAATAAGTATTACTTTCCTCTTATTTGCTGGTGAACCTTTGCT
TTCTAAGCACAGAAATATCTAAGATCCTCTCAGATTTTCCTCAGAGCCAACTCTTTAAAATTTT
AAGCTAACTCTTAAAAATTGTAGGTTTTCATTTTTAAATTCATCACTTTTCTGAGAGAAGCCCA
GAAAAAAAGTCTCACAGTGGATTCCCAGAGGCTTTTGTTCCACTCTCTAGAAAAATGCCCAGCA
GTGTCCTCTTCTGAGTGTCACCTCCCGGGTCCAGTGTCCTGTGATGAAGAGCGCTTTCTCAGGG
CAGCCCGTGTGCTGAGGGACCCCGGTCACAGTGTGTGCACAGTCAGAGAGCTGTCTCTGTGGCT
AGGAAAACAGACAGAGGGGCCTGTCCAGGCCCAGGACAAGCTGGACTCCCACCAGGGGTTCGTG
TACTGTGCACACTGGGAAATAAGGAGGAAAATTTAGTCCTGTTGTGAAAGCTCGGACAGCTCAA
TTAGCCAAGATAAAATGGGTGATAAGTGTCGCTTTCTACGTATTGCAGGCTGCCCTGATGATCT
CACTCATTTGGAAGTATTATTCTGTCCCTGTGGCTGTCGTGCCGAGTAAATGGATAACCCCTCT
AGACCGCCTGGTAGCCTTTCCTACTAGAGTAGCAGGTGGTGTTGGAATTACCTGTTGGATTTTA
GTCTGTAACAAAGTTGTCGCTATTGTGCTTCATCCGTTCAGCTGAACAGGAGGATGGATACAGC
CGCGAGGCTAAAAAACGGATTTCCTCTTCCTAGCTTAAAATCTGATTTACACTGTTTTGTTTTT
TAAGAAACAAAAGTGCATAGTTTAGATTTTTTTTTTGTTGAATATGTTTGTTCTTGGACTTTAT
GAGAGAGTCTTATAAGAATCACGATTTTCTACACCTGTCATTGAGCCAAGAAAGTCCAGTTTAT
GACACGTATGTACTAGTGAACACCGTCCTCGATCTGTACGAAATGTGAAATGTTTAGGGACATC
TCCATGCTGTCACTTGTGATTTGCCCTCTTATGTATTTTGGTCATATTGCCAACTGGAAAGTCA
AAATTTTCTAACAACTTTAAGTAAGTTCTTTGAAGACTTAGTGCTGTTTTTAATCCAGTTTAGA
AAGTAACTTAATTTTAATACCACTACTAAAAATTCGAAAATTTCTTCTTTAATCACATTCAATA
TGGTTAAAAGAACAACACTAATTGACATTGCGTGGGCTTTTTCTCCCTTTGTTTAAAATGTCAT
TTGTTGAGCAAGAGTTGTATAGTATTATCTACTTACTTGAGGCTGTTAATTTTTCATTACAGTG
TTTTGTAAATGTATCCACGAGACCATGATGCATTGTTTTGTGCTCAACTTGTGTTTTGTATTTA
AAGCATTTTGAATGAAGTGTATTTTATAAGCATTTAATATTTATGCTCTTTAGAATGGAACACA
GAAAACAAACCTTATAAGTCCTGATTAATCTGAACCAATAACCTGTGTGGCCTACAAAGTATAA
TTCTATTAAATGTTCCTTAAAACACTTTTTTCTAATTAAAATCTTTGCAAATGCTTGTGTAACT
TCCTGCCTTACAGCTACTTGTTTGCTGTGAGCCACCCGCAACTGACAAGTGGCTGTTAACTGAG
TCACCATATCCCAGTAAAGCTGAATTTTCTCACTA

hide sequence

RefSeq Acc Id:

NR_146615

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,380,326 - 39,428,528 (+)	NCBI
T2T-CHM13v2.0	21	37,764,912 - 37,813,128 (+)	NCBI

Sequence:

show sequence

GTTGTTGTGGTCCCCATGGAGCTGCCGTAGCGGACCCAGCACAGCCAGGAGCGTCCGGGATGAG
CTCAGCCGCGGCCGACCACTGGGCGTGGTTGCTGGTGCTCAGCTTCGTGTTTGGATGCAATGTT
CTTAGGATCCTCCTCCCGTCCTTCTCATCCTTCATGTCCAGGGTGCTGCAGAAGGACGCGGAGC
AGGAGTCACAGATGAGAGCGGAGATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGAT
GGACGAGTTTGCCAGATATGCCAGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAA
ACCCATGTGAAAGCTCGGACAGCTCAATTAGCCAAGATAAAATGGGTGATAAGTGTCGCTTTCT
ACGTATTGCAGGCTGCCCTGATGATCTCACTCATTTGGAAGTATTATTCTGTCCCTGTGGCTGT
CGTGCCGAGTAAATGGATAACCCCTCTAGACCGCCTGGTAGCCTTTCCTACTAGAGTAGCAGGT
GACGATGGCTTAATAGAATTTACCACAGTTACTTTAGAGTCTCCGAAAGCATGGCTGGTGGAGG
CCTGACTGGGAGGCAGGGGATGCGACTCCTTACTTTGCAAAGGCTCCTCTGAGCCTTTTGCAAC
ACCAGGACTTGATTGTATTCTCCAGCAGTATTTGGACTTCCAAATGTTTCTCTTCCCCTGATAA
ATCTATATTAGAAAAATAGGCAATTTAGTGCTGTTTAAAATGAATGGATCTCTATTTCAAGATG
GCATGTCTAGTACACTTACGTGCACCGCCTCACAAGCACACTGAAATGACAGAAAAGGACACTA
TGAATTAGGACAATGGACTGAAAAATAAGCAGAAAATTTAAACACACCAGTGACCACAGTGCAA
CTGCAACTGACGATCAGTTTCCACCAAACTGCAACAGAGAGAGTGGCTTTGCCGTCTGGGCCAG
CTGAGGACTCTCCTTGGAACCCAAAGAAGCAGTTTGTTTCCACCTACTCCCAAGAGCTGAAGAT
TATAAGCCAGAAGCAAACAAAGGCAGGCAAGGAAATTTGAGGTTGTTGCATCTGGAAGTAAACA
TGTAGCTACTTCTTCTAATAAAACAGAGGTCAGCAACCGAGAGCAGGAAGGAGGCACAGCAACA
ACAGAACAACAACAAGAGGCTGCGACAGGGGCGGCGTGGGTCAAAAGGAAGCAACCTGGAGGAC
GGTCCTCCTTGCGGCTTGGAGCAGAGCTTCAGCTCTTAGGTGCTCTGACCCTGGAGGAGAGGGA
TTTCACTGAGATGAGAAGGATGCGTGATGGGATCCATGGGCACTGGAGGCTTATATTTCCCTCT
CATGCCATGCTCAAGTGATGGGAGGGCAGAGGCATGAGAGGGTGCTAAGGGACTAAACGCCATG
GCCACAGGAGCTCTGGCCAAGGCCCCAGGAGTCAAGAAGTGCACAGAGGGCATGGATGCGTTGG
AAAGGGGAGGTGCTGGCCTTTTAAAGATCATATGGCTTGGACAAGGAACATGCTGCTTTAAATA
ATTTCTATTAATAGCCTTTTCTGAACAATCACAGAGAAAGTCTTCTGAATAATCATACTGAGAA
CTTAAACTTCCACAGGAGCACTGAGATCTGCTATAATCAACACTCTTATTGGAAGCATTACTGT
TCCGTGAAAAATCGCCTGTGCCTGGGCTTCTCTTGCATGCTGCAGACCTCCTATTGTTTTCTAA
TGCCACGCCGAAGAAATGCTCATCTATATTTGTTTTTGTTAGATCAGCCAAAGACATAGCAAAC
AACCTAATAAAAGAAAAGTAAAACCTAA

hide sequence

RefSeq Acc Id:

NR_146616

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,387,781 - 39,397,889 (+)	NCBI
T2T-CHM13v2.0	21	37,772,367 - 37,782,474 (+)	NCBI

Sequence:

show sequence

AGGCGACTGGCGGGTCGCGGCTTCCAAGCTCTAAATGGAGAGTTGTCCCTACTGTGCGGCAGGC
GGAGGAGACCTATGTCCAGGGTGCTGCAGAAGGACGCGGAGCAGGAGTCACAGATGAGAGCGGA
GATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGATGGACGAGTTTGCCAGATATGCC
AGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAAACCCATGGTACTGTGTCCCTTG
CAGCCTGGAGGCTTCATGAGAGCGGATGAATAGAGAAGTCTGTATGTGAAGATTAGTAGAATAC
ATACTTTGCTTCTTGGATGTTCTGAATATTGATGGAAACTTAAGTTATCTGGAGGAAACTCAGT
AATAAGTATTACTTTCCTCTTATTTGCTGGTGAACCTTTGCTTTCTAAGCACAGAAATATCTAA
GATCCTCTCAGATTTTCCTCAGAGCCAACTCTTTAAAATTTTAAGCTAACTCTTAAAAATTGTA
GGTTTTCATTTTTAAATTCATCACTTTTCTGAGAGAAGCCCAGAAAAAAAGTCTCACAGTGGAT
TCCCAGAGGCTTTTGTTCCACTCTCTAGAAAAATGCCCAGCAGTGTCCTCTTCTGAGTGTCACC
TCCCGGGTCCAGTGTCCTGTGATGAAGAGCGCTTTCTCAGGGCAGCCCGTGTGCTGAGGGACCC
CGGTCACAGTGTGTGCACAGTCAGAGAGCTGTCTCTGTGGCTAGGAAAACAGACAGAGGGGCCT
GTCCAGGCCCAGGACAAGCTGGACTCCCACCAGGGGTTCGTGTACTGTGCACACTGGGAAATAA
GGAGGAAAATTTAGTCCTGTTGTGAAAGCTCGGACAGCTCAATTAGCCAAGATAAAATGGGTGA
TAAGTGTCGCTTTCTACGTATTGCAGGCTGCCCTGATGATCTCACTCATTTGGAAGTATTATTC
TGTCCCTGTGGCTGTCGTGCCGAGTAAATGGATAACCCCTCTAGACCGCCTGGTAGCCTTTCCT
ACTAGAGTAGCAGGTGGTGTTGGAATTACCTGTTGGATTTTAGTCTGTAACAAAGTTGTCGCTA
TTGTGCTTCATCCGTTCAGCTGAACAGGAGGATGGATACAGCCGCGAGGCTAAAAAACGGATTT
CCTCTTCCTAGCTTAAAATCTGATTTACACTGTTTTGTTTTTTAAGAAACAAAAGTGCATAGTT
TAGATTTTTTTTTTGTTGAATATGTTTGTTCTTGGACTTTATGAGAGAGTCTTATAAGAATCAC
GATTTTCTACACCTGTCATTGAGCCAAGAAAGTCCAGTTTATGACACGTATGTACTAGTGAACA
CCGTCCTCGATCTGTACGAAATGTGAAATGTTTAGGGACATCTCCATGCTGTCACTTGTGATTT
GCCCTCTTATGTATTTTGGTCATATTGCCAACTGGAAAGTCAAAATTTTCTAACAACTTTAAGT
AAGTTCTTTGAAGACTTAGTGCTGTTTTTAATCCAGTTTAGAAAGTAACTTAATTTTAATACCA
CTACTAAAAATTCGAAAATTTCTTCTTTAATCACATTCAATATGGTTAAAAGAACAACACTAAT
TGACATTGCGTGGGCTTTTTCTCCCTTTGTTTAAAATGTCATTTGTTGAGCAAGAGTTGTATAG
TATTATCTACTTACTTGAGGCTGTTAATTTTTCATTACAGTGTTTTGTAAATGTATCCACGAGA
CCATGATGCATTGTTTTGTGCTCAACTTGTGTTTTGTATTTAAAGCATTTTGAATGAAGTGTAT
TTTATAAGCATTTAATATTTATGCTCTTTAGAATGGAACACAGAAAACAAACCTTATAAGTCCT
GATTAATCTGAACCAATAACCTGTGTGGCCTACAAAGTATAATTCTATTAAATGTTCCTTAAAA
CACTTTTTTCTAATTAAAATCTTTGCAAATGCTTGTGTAACTTCCTGCCTTACAGCTACTTGTT
TGCTGTGAGCCACCCGCAACTGACAAGTGGCTGTTAACTGAGTCACCATATCCCAGTAAAGCTG
AATTTTCTCACTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001139690	(Get FASTA)	NCBI Sequence Viewer
	NP_001337222	(Get FASTA)	NCBI Sequence Viewer
	NP_001337223	(Get FASTA)	NCBI Sequence Viewer
	NP_001337224	(Get FASTA)	NCBI Sequence Viewer
	NP_001337225	(Get FASTA)	NCBI Sequence Viewer
	NP_004618	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH12415	(Get FASTA)	NCBI Sequence Viewer
	AAI11394	(Get FASTA)	NCBI Sequence Viewer
	BAF85802	(Get FASTA)	NCBI Sequence Viewer
	BAG59675	(Get FASTA)	NCBI Sequence Viewer
	BAG61196	(Get FASTA)	NCBI Sequence Viewer
	BAG61276	(Get FASTA)	NCBI Sequence Viewer
	BAH11617	(Get FASTA)	NCBI Sequence Viewer
	CAA73081	(Get FASTA)	NCBI Sequence Viewer
	CAB90454	(Get FASTA)	NCBI Sequence Viewer
	EAX09645	(Get FASTA)	NCBI Sequence Viewer
	EAX09646	(Get FASTA)	NCBI Sequence Viewer
	EAX09647	(Get FASTA)	NCBI Sequence Viewer
	EAX09648	(Get FASTA)	NCBI Sequence Viewer
	EAX09649	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000370084
	ENSP00000370084.1
	ENSP00000370089.3
	ENSP00000381737
	ENSP00000381737.1
	ENSP00000409030.1
	ENSP00000410228.3
	ENSP00000485087.1
	ENSP00000485215.1
	ENSP00000485555.1
	ENSP00000496813
	ENSP00000496813.1
	ENSP00000497103.1
	ENSP00000497111.1
	ENSP00000497171.1
	ENSP00000497189.1
	ENSP00000497322.1
	ENSP00000497593.1
	ENSP00000498209.1
GenBank Protein	O00258	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_004618 ⟸ NM_004627
- Peptide Label:	isoform 1
- UniProtKB:	D3DSH9 (UniProtKB/Swiss-Prot), A8MQ44 (UniProtKB/Swiss-Prot), A8KAP8 (UniProtKB/Swiss-Prot), O60740 (UniProtKB/Swiss-Prot), O00258 (UniProtKB/Swiss-Prot), A0A3B3ISE9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSSAAADHWAWLLVLSFVFGCNVLRILLPSFSSFMSRVLQKDAEQESQMRAEIQDMKQELSTVN MMDEFARYARLERKINKMTDKLKTHVKARTAQLAKIKWVISVAFYVLQAALMISLIWKYYSVPV AVVPSKWITPLDRLVAFPTRVAGGVGITCWILVCNKVVAIVLHPFS hide sequence

RefSeq Acc Id:	NP_001139690 ⟸ NM_001146218
- Peptide Label:	isoform 2
- UniProtKB:	H7BYE5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSRVLQKDAEQESQMRAEIQDMKQELSTVNMMDEFARYARLERKINKMTDKLKTHVKARTAQLA KIKWVISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVAGGVGITCWILVC NKVVAIVLHPFS hide sequence

RefSeq Acc Id:	NP_001337225 ⟸ NM_001350296
- Peptide Label:	isoform 2
- UniProtKB:	H7BYE5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSRVLQKDAEQESQMRAEIQDMKQELSTVNMMDEFARYARLERKINKMTDKLKTHVKARTAQLA KIKWVISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVAGGVGITCWILVC NKVVAIVLHPFS hide sequence

RefSeq Acc Id:	NP_001337224 ⟸ NM_001350295
- Peptide Label:	isoform 2
- UniProtKB:	H7BYE5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSRVLQKDAEQESQMRAEIQDMKQELSTVNMMDEFARYARLERKINKMTDKLKTHVKARTAQLA KIKWVISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVAGGVGITCWILVC NKVVAIVLHPFS hide sequence

RefSeq Acc Id:	NP_001337223 ⟸ NM_001350294
- Peptide Label:	isoform 2
- UniProtKB:	H7BYE5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSRVLQKDAEQESQMRAEIQDMKQELSTVNMMDEFARYARLERKINKMTDKLKTHVKARTAQLA KIKWVISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVAGGVGITCWILVC NKVVAIVLHPFS hide sequence

RefSeq Acc Id:	NP_001337222 ⟸ NM_001350293
- Peptide Label:	isoform 3
- UniProtKB:	Q0VGA7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPPQSPGGSGMSRVLQKDAEQESQMRAEIQDMKQELSTVNMMDEFARYARLERKINKMTDKLKT HVKARTAQLAKIKWVISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVAGG VGITCWILVCNKVVAIVLHPFS hide sequence

RefSeq Acc Id:

ENSP00000381737 ⟸ ENST00000398753

RefSeq Acc Id:

ENSP00000497593 ⟸ ENST00000649499

RefSeq Acc Id:

ENSP00000497189 ⟸ ENST00000649224

RefSeq Acc Id:

ENSP00000496813 ⟸ ENST00000649170

RefSeq Acc Id:

ENSP00000498209 ⟸ ENST00000649822

RefSeq Acc Id:

ENSP00000497111 ⟸ ENST00000649100

RefSeq Acc Id:

ENSP00000485087 ⟸ ENST00000478273

RefSeq Acc Id:

ENSP00000485555 ⟸ ENST00000623703

RefSeq Acc Id:

ENSP00000485215 ⟸ ENST00000466787

RefSeq Acc Id:

ENSP00000497103 ⟸ ENST00000650376

RefSeq Acc Id:

ENSP00000410228 ⟸ ENST00000415847

RefSeq Acc Id:

ENSP00000409030 ⟸ ENST00000442773

RefSeq Acc Id:

ENSP00000370084 ⟸ ENST00000380708

RefSeq Acc Id:

ENSP00000370089 ⟸ ENST00000380713

RefSeq Acc Id:

ENSP00000497322 ⟸ ENST00000647678

RefSeq Acc Id:

ENSP00000497171 ⟸ ENST00000647911

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O00258-F1-model_v2	AlphaFold	O00258	1-174	view protein structure

Promoters

RGD ID:

13602842

Promoter ID:

EPDNEW_H27605

Type:

initiation region

Name:

WRB_2

Description:

tryptophan rich basic protein

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27606

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,387,781 - 39,387,841	EPDNEW

RGD ID:

13602840

Promoter ID:

EPDNEW_H27606

Type:

initiation region

Name:

WRB_1

Description:

tryptophan rich basic protein

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27605

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,387,792 - 39,387,852	EPDNEW

RGD ID:

6799430

Promoter ID:

HG_KWN:40905

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000398753, OTTHUMT00000141745, OTTHUMT00000141747, OTTHUMT00000141749, OTTHUMT00000194972

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	39,673,879 - 39,674,379 (+)	MPROMDB

RGD ID:

6852626

Promoter ID:

EP74125

Type:

initiation region

Name:

HS_WRB_1

Description:

Tryptophan rich basic protein.

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74126

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	39,674,106 - 39,674,166	EPD

RGD ID:

6852628

Promoter ID:

EP74126

Type:

initiation region

Name:

HS_WRB_2

Description:

Tryptophan rich basic protein.

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74125

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	39,674,168 - 39,674,228	EPD

RGD ID:

6799638

Promoter ID:

HG_KWN:40906

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000194973

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	39,679,706 - 39,680,206 (+)	MPROMDB

RGD ID:

6799640

Promoter ID:

HG_KWN:40907

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000380708, UC010GOJ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	39,681,306 - 39,681,806 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12790	AgrOrtholog
COSMIC	GET1	COSMIC
Ensembl Genes	ENSG00000182093	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000380708	ENTREZGENE
	ENST00000380708.5	UniProtKB/Swiss-Prot
	ENST00000380713.7	UniProtKB/TrEMBL
	ENST00000398753	ENTREZGENE
	ENST00000398753.5	UniProtKB/Swiss-Prot
	ENST00000415847.3	UniProtKB/TrEMBL
	ENST00000442773.1	UniProtKB/TrEMBL
	ENST00000466787.1	UniProtKB/TrEMBL
	ENST00000478273.5	UniProtKB/TrEMBL
	ENST00000623703.3	UniProtKB/TrEMBL
	ENST00000647678.1	UniProtKB/TrEMBL
	ENST00000647911.1	UniProtKB/TrEMBL
	ENST00000649100.1	UniProtKB/TrEMBL
	ENST00000649170	ENTREZGENE
	ENST00000649170.1	UniProtKB/Swiss-Prot
	ENST00000649224.1	UniProtKB/TrEMBL
	ENST00000649499.1	UniProtKB/TrEMBL
	ENST00000649822.1	UniProtKB/TrEMBL
	ENST00000650376.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.287.660	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000182093	GTEx
HGNC ID	HGNC:12790	ENTREZGENE
Human Proteome Map	GET1	Human Proteome Map
InterPro	Get1	UniProtKB/TrEMBL
	Helix_hairpin_bin_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WRB/Get1	UniProtKB/Swiss-Prot
KEGG Report	hsa:7485	UniProtKB/Swiss-Prot
NCBI Gene	7485	ENTREZGENE
OMIM	602915	OMIM
PANTHER	GUIDED ENTRY OF TAIL-ANCHORED PROTEINS FACTOR 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TAIL-ANCHORED PROTEIN INSERTION RECEPTOR WRB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	CHD5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A096LNK8_HUMAN	UniProtKB/TrEMBL
	A0A096LNT6_HUMAN	UniProtKB/TrEMBL
	A0A3B3ISA8_HUMAN	UniProtKB/TrEMBL
	A0A3B3ISE5_HUMAN	UniProtKB/TrEMBL
	A0A3B3ISE9	ENTREZGENE
	A0A3B3IT79_HUMAN	UniProtKB/TrEMBL
	A0A3B3IUG4_HUMAN	UniProtKB/TrEMBL
	A8KAP8	ENTREZGENE
	A8MQ44	ENTREZGENE
	B4DLW3_HUMAN	UniProtKB/TrEMBL
	B7Z1T1_HUMAN	UniProtKB/TrEMBL
	C9JLV3_HUMAN	UniProtKB/TrEMBL
	D3DSH9	ENTREZGENE
	H7BYE5	ENTREZGENE, UniProtKB/TrEMBL
	H7C384_HUMAN	UniProtKB/TrEMBL
	O00258	ENTREZGENE
	O60740	ENTREZGENE
	Q0VGA7	ENTREZGENE, UniProtKB/TrEMBL
	WRB_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8KAP8	UniProtKB/Swiss-Prot
	A8MQ44	UniProtKB/Swiss-Prot
	D3DSH9	UniProtKB/Swiss-Prot
	O60740	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-05-21	GET1	guided entry of tail-anchored proteins factor 1	WRB	tryptophan rich basic protein	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - ClinVar