PSMG1 (proteasome assembly chaperone 1)

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Gene: PSMG1 (proteasome assembly chaperone 1) Homo sapiens

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Symbol:

PSMG1

Name:

proteasome assembly chaperone 1

RGD ID:

1313491

HGNC Page

HGNC:3043

Description:

Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Part of protein folding chaperone complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C21LRP; chromosome 21 leucine-rich protein; Down syndrome critical region gene 2; Down syndrome critical region protein 2; DSCR2; leucine rich protein C21-LRP; LRPC21; PAC-1; PAC1; Pba1; proteasome (prosome, macropain) assembly chaperone 1; proteasome assembling chaperone 1; proteasome chaperone homolog 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	39,174,769 - 39,183,514 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	39,174,769 - 39,183,488 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	40,546,695 - 40,555,440 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	39,469,254 - 39,477,310 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	39,469,257 - 39,477,310	NCBI
Celera	21	25,745,057 - 25,753,109 (-)	NCBI		Celera
Cytogenetic Map	21	q22.2	NCBI
HuRef	21	26,017,701 - 26,025,770 (-)	NCBI		HuRef
CHM1_1	21	40,108,716 - 40,116,785 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	21	37,559,338 - 37,568,084 (-)	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)

ulcerative colitis (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

(S)-nicotine (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

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

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

4,4'-diaminodiphenylmethane (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

arsenite(3-) (ISO)

bisphenol A (EXP,ISO)

caffeine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chromium(6+) (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

dorsomorphin (EXP)

enzyme inhibitor (EXP)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

folpet (ISO)

formaldehyde (EXP)

furan (ISO)

gentamycin (ISO)

hydrogen peroxide (EXP)

ivermectin (EXP)

menadione (EXP)

nicotine (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (ISO)

quercetin (EXP)

rotenone (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sodium dichromate (ISO)

Soman (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

tungsten (ISO)

uranium atom (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cerebellar granule cell precursor proliferation (IEA,ISO)

chaperone-mediated protein complex assembly (IDA,IGI)

proteasome assembly (IEA)

proteasome core complex assembly (IBA,IEA,ISO)

Cellular Component

cytoplasm (IDA,IEA)

cytosol (IDA)

endoplasmic reticulum (IBA,IDA,IEA)

Golgi apparatus (IDA)

nucleoplasm (IDA)

nucleus (HDA)

protein folding chaperone complex (IDA)

Molecular Function

molecular adaptor activity (IDA,IGI)

proteasome binding (IBA,IEA)

protein binding (IPI)

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:9784380	PMID:10830953	PMID:10872820	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15590417	PMID:15670775	PMID:16251969	PMID:16712791	PMID:17189198	PMID:18758464
PMID:18793612	PMID:19193609	PMID:19379481	PMID:19738201	PMID:20062062	PMID:21079743	PMID:21145461	PMID:21300955	PMID:21509594	PMID:21630459	PMID:21873635	PMID:22593026
PMID:22863883	PMID:22939629	PMID:22990118	PMID:23824909	PMID:23969696	PMID:24811749	PMID:26109405	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26638075	PMID:26760575
PMID:27100087	PMID:27173435	PMID:27182664	PMID:28514442	PMID:29568061	PMID:29955894	PMID:30021884	PMID:30554943	PMID:30833792	PMID:32176739	PMID:32296183	PMID:32338277
PMID:32416067	PMID:32707033	PMID:33545068	PMID:33961781	PMID:34079125	PMID:34189442	PMID:34349018	PMID:34373451	PMID:35235311	PMID:35256949	PMID:35271311	PMID:35696571
PMID:35831314	PMID:35914814	PMID:35944360	PMID:36042349	PMID:36215168	PMID:36575184	PMID:37071682	PMID:37317656	PMID:37827155	PMID:38569033

Genomics

Comparative Map Data

PSMG1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	21	39,174,769 - 39,183,514 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	39,174,769 - 39,183,488 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	40,546,695 - 40,555,440 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	39,469,254 - 39,477,310 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	39,469,257 - 39,477,310	NCBI
Celera	21	25,745,057 - 25,753,109 (-)	NCBI		Celera
Cytogenetic Map	21	q22.2	NCBI
HuRef	21	26,017,701 - 26,025,770 (-)	NCBI		HuRef
CHM1_1	21	40,108,716 - 40,116,785 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	21	37,559,338 - 37,568,084 (-)	NCBI		T2T-CHM13v2.0

Psmg1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	95,781,133 - 95,792,160 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	95,781,133 - 95,792,160 (-)	Ensembl		GRCm39 Ensembl
GRCm38	16	95,979,933 - 95,990,960 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	95,979,933 - 95,990,960 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	96,201,542 - 96,212,510 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	96,084,845 - 96,095,813 (-)	NCBI		MGSCv36	mm8
Celera	16	97,054,046 - 97,065,015 (-)	NCBI		Celera
Cytogenetic Map	16	C4	NCBI
cM Map	16	56.76	NCBI

Psmg1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	48,745,581 - 48,755,040 (-)	NCBI		GRCr8
mRatBN7.2	11	35,276,080 - 35,285,541 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	35,276,011 - 35,285,622 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	43,933,336 - 43,942,793 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	36,604,713 - 36,614,170 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	35,750,492 - 35,759,951 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	36,327,798 - 36,337,289 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	36,327,800 - 36,337,256 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	39,858,073 - 39,867,561 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	36,283,570 - 36,291,750 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	11	36,340,284 - 36,349,713 (-)	NCBI
Celera	11	33,185,477 - 33,193,657 (+)	NCBI		Celera
Cytogenetic Map	11	q11	NCBI

Psmg1
(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	37,993,657 - 38,002,985 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955407	37,993,657 - 38,002,986 (-)	NCBI	ChiLan1.0	ChiLan1.0

PSMG1
(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	35,128,560 - 35,297,511 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	21	30,135,188 - 30,143,255 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	21	25,526,270 - 25,535,005 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	21	38,876,026 - 38,884,027 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	21	38,876,026 - 38,884,027 (-)	Ensembl	panpan1.1		panPan2

PSMG1
(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	33,914,640 - 33,925,925 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	31	33,914,668 - 33,925,883 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	31	33,221,739 - 33,233,022 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	31	33,455,703 - 33,466,983 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	31	33,455,704 - 33,587,841 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	31	33,328,745 - 33,340,221 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	31	33,333,051 - 33,344,336 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	31	33,823,473 - 33,834,757 (-)	NCBI		UU_Cfam_GSD_1.0

Psmg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404971	33,461,429 - 33,470,393 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936500	3,997,379 - 4,006,418 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936500	3,997,415 - 4,006,394 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BRWD1
(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	202,762,512 - 202,775,642 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	202,762,509 - 202,775,601 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	212,903,272 - 212,916,125 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PSMG1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	83,105,263 - 83,113,289 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	83,102,363 - 83,113,229 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	10,963,244 - 10,971,573 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Psmg1
(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	24,850,366 - 24,859,663 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624745	24,850,386 - 24,859,669 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PSMG1
21 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 [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 [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 [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 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
NM_003720.4(PSMG1):c.554C>T (p.Pro185Leu)	single nucleotide variant	not specified [RCV004298488]	Chr21:39178550 [GRCh38] Chr21:40550476 [GRCh37] Chr21:21q22.2	uncertain significance
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 21q22.11-22.2(chr21:33980213-42542987)x3	copy number gain	not provided [RCV000684166]	Chr21:33980213..42542987 [GRCh37] Chr21:21q22.11-22.2	pathogenic
GRCh37/hg19 21q22.2(chr21:40039202-41278694)x1	copy number loss	not provided [RCV000684157]	Chr21:40039202..41278694 [GRCh37] Chr21:21q22.2	uncertain significance
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(chr21:10827533-48100155)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 21q22.2(chr21:40545790-40568528)x3	copy number gain	not provided [RCV000741568]	Chr21:40545790..40568528 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40546717-40566372)x3	copy number gain	not provided [RCV000741569]	Chr21:40546717..40566372 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40546717-40567352)x3	copy number gain	not provided [RCV000741570]	Chr21:40546717..40567352 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40547004-40568528)x3	copy number gain	not provided [RCV000741571]	Chr21:40547004..40568528 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40547004-40669083)x3	copy number gain	not provided [RCV000741572]	Chr21:40547004..40669083 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40547329-40566067)x3	copy number gain	not provided [RCV000741573]	Chr21:40547329..40566067 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40547329-40567352)x3	copy number gain	not provided [RCV000741574]	Chr21:40547329..40567352 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40547387-40566372)x3	copy number gain	not provided [RCV000741575]	Chr21:40547387..40566372 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40549466-40566372)x3	copy number gain	not provided [RCV000741576]	Chr21:40549466..40566372 [GRCh37] Chr21:21q22.2	benign
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 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 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 21q22.2(chr21:39725955-40634132)x1	copy number loss	not provided [RCV000847414]	Chr21:39725955..40634132 [GRCh37] Chr21:21q22.2	uncertain significance
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
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	copy number gain	Down syndrome [RCV002284306]	Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_003720.4(PSMG1):c.496A>G (p.Ile166Val)	single nucleotide variant	not provided [RCV000887207]	Chr21:39178608 [GRCh38] Chr21:40550534 [GRCh37] Chr21:21q22.2	benign
NM_003720.4(PSMG1):c.639C>T (p.His213=)	single nucleotide variant	not provided [RCV000926332]	Chr21:39178465 [GRCh38] Chr21:40550391 [GRCh37] Chr21:21q22.2	likely benign
NM_003720.4(PSMG1):c.828G>C (p.Leu276Phe)	single nucleotide variant	not provided [RCV000907532]	Chr21:39175629 [GRCh38] Chr21:40547555 [GRCh37] Chr21:21q22.2	benign
GRCh37/hg19 21q22.2(chr21:40219284-41569839)x3	copy number gain	not provided [RCV002472434]	Chr21:40219284..41569839 [GRCh37] Chr21:21q22.2	uncertain significance
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 21q22.2(chr21:39892114-40905632)x1	copy number loss	not provided [RCV001836600]	Chr21:39892114..40905632 [GRCh37] Chr21:21q22.2	uncertain significance
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 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(chr21:15006457-48097372)	copy number gain	not specified [RCV002052723]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_003720.4(PSMG1):c.715G>A (p.Val239Met)	single nucleotide variant	not specified [RCV004113661]	Chr21:39177512 [GRCh38] Chr21:40549438 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.429A>T (p.Glu143Asp)	single nucleotide variant	not specified [RCV004214530]	Chr21:39179951 [GRCh38] Chr21:40551877 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.386A>G (p.Asn129Ser)	single nucleotide variant	not specified [RCV004209259]	Chr21:39180292 [GRCh38] Chr21:40552218 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.490A>T (p.Ile164Leu)	single nucleotide variant	not specified [RCV004237101]	Chr21:39178614 [GRCh38] Chr21:40550540 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.38C>G (p.Pro13Arg)	single nucleotide variant	not specified [RCV004196050]	Chr21:39183348 [GRCh38] Chr21:40555274 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.776T>G (p.Leu259Trp)	single nucleotide variant	not specified [RCV004229524]	Chr21:39177451 [GRCh38] Chr21:40549377 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.691A>G (p.Ile231Val)	single nucleotide variant	not specified [RCV004159448]	Chr21:39177536 [GRCh38] Chr21:40549462 [GRCh37] Chr21:21q22.2	likely benign
NM_003720.4(PSMG1):c.524A>T (p.Tyr175Phe)	single nucleotide variant	not specified [RCV004222652]	Chr21:39178580 [GRCh38] Chr21:40550506 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.497T>G (p.Ile166Ser)	single nucleotide variant	not specified [RCV004115056]	Chr21:39178607 [GRCh38] Chr21:40550533 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.323C>T (p.Thr108Ile)	single nucleotide variant	not specified [RCV004123539]	Chr21:39180355 [GRCh38] Chr21:40552281 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.640G>A (p.Asp214Asn)	single nucleotide variant	not specified [RCV004362153]	Chr21:39178464 [GRCh38] Chr21:40550390 [GRCh37] Chr21:21q22.2	uncertain significance
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
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
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
NM_003720.4(PSMG1):c.509G>A (p.Arg170Gln)	single nucleotide variant	not specified [RCV004515401]	Chr21:39178595 [GRCh38] Chr21:40550521 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.634G>A (p.Val212Ile)	single nucleotide variant	not specified [RCV004515403]	Chr21:39178470 [GRCh38] Chr21:40550396 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.591C>G (p.Phe197Leu)	single nucleotide variant	not specified [RCV004515402]	Chr21:39178513 [GRCh38] Chr21:40550439 [GRCh37] Chr21:21q22.2	uncertain significance
NM_003720.4(PSMG1):c.38C>T (p.Pro13Leu)	single nucleotide variant	not specified [RCV004515400]	Chr21:39183348 [GRCh38] Chr21:40555274 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	copy number gain	not provided [RCV004577449]	Chr21:15380398..48100790 [GRCh37] Chr21:21q11.2-22.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1221
Count of miRNA genes:	600
Interacting mature miRNAs:	663
Transcripts:	ENST00000331573, ENST00000380900, ENST00000411828, ENST00000431628, ENST00000481921
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407018675	GWAS667651_H	body height QTL GWAS667651 (human)		7e-11	body height (VT:0001253)	body height (CMO:0000106)	21	39180381	39180382	Human
406921074	GWAS570050_H	triglyceride measurement QTL GWAS570050 (human)		1e-10	triglyceride measurement	blood triglyceride level (CMO:0000118)	21	39181919	39181920	Human
407314240	GWAS963216_H	low density lipoprotein cholesterol measurement QTL GWAS963216 (human)		1e-25	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	21	39182429	39182430	Human
2303081	MAMTS49_H	Mammary tumor susceptibility QTL 49 (human)	1.72		Mammary tumor susceptibility		21	17950448	43950448	Human
407004104	GWAS653080_H	hepatocyte growth factor measurement QTL GWAS653080 (human)		0.000002	hepatocyte growth factor measurement		21	39178134	39178135	Human
406909211	GWAS558187_H	low density lipoprotein cholesterol measurement QTL GWAS558187 (human)		4e-08	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	21	39182429	39182430	Human
406920015	GWAS568991_H	body height QTL GWAS568991 (human)		1e-10	body height (VT:0001253)	body height (CMO:0000106)	21	39181418	39181419	Human

Markers in Region

D11S906

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,457 - 40,547,560	UniSTS	GRCh37
Celera	21	25,745,126 - 25,745,229	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,786 - 26,017,889	UniSTS
Marshfield Genetic Map	11	79.98	RGD
Genethon Genetic Map	11	84.5	UniSTS
deCODE Assembly Map	11	83.55	UniSTS
Whitehead-YAC Contig Map	11		UniSTS
GeneMap99-G3 RH Map	21	1308.0	UniSTS

SHGC-51878

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,446 - 40,547,560	UniSTS	GRCh37
Build 36	21	39,469,316 - 39,469,430	RGD	NCBI36
Celera	21	25,745,115 - 25,745,229	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,775 - 26,017,889	UniSTS
TNG Radiation Hybrid Map	21	15000.0	UniSTS

RH91761

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,403 - 40,547,486	UniSTS	GRCh37
Build 36	21	39,469,273 - 39,469,356	RGD	NCBI36
Celera	21	25,745,072 - 25,745,155	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,732 - 26,017,815	UniSTS
GeneMap99-GB4 RH Map	21	204.15	UniSTS

ECD01337

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,551,539 - 40,552,407	UniSTS	GRCh37
Build 36	21	39,473,409 - 39,474,277	RGD	NCBI36
Celera	21	25,749,208 - 25,750,076	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,021,868 - 26,022,737	UniSTS

ECD06023

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,555,734 - 40,556,453	UniSTS	GRCh37
Build 36	21	39,477,604 - 39,478,323	RGD	NCBI36
Celera	21	25,753,403 - 25,754,122	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,026,066 - 26,026,785	UniSTS

ECD06399

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,549,866 - 40,550,575	UniSTS	GRCh37
Build 36	21	39,471,736 - 39,472,445	RGD	NCBI36
Celera	21	25,747,535 - 25,748,244	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,020,195 - 26,020,904	UniSTS

ECD07460

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,556,497 - 40,557,177	UniSTS	GRCh37
Build 36	21	39,478,367 - 39,479,047	RGD	NCBI36
Celera	21	25,754,166 - 25,754,846	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,026,829 - 26,027,509	UniSTS

ECD09163

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,549,108 - 40,549,743	UniSTS	GRCh37
Build 36	21	39,470,978 - 39,471,613	RGD	NCBI36
Celera	21	25,746,777 - 25,747,412	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,019,437 - 26,020,072	UniSTS

ECD09897

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,554,563 - 40,555,179	UniSTS	GRCh37
Build 36	21	39,476,433 - 39,477,049	RGD	NCBI36
Celera	21	25,752,232 - 25,752,848	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,024,893 - 26,025,509	UniSTS

ECD12502

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,553,540 - 40,554,081	UniSTS	GRCh37
Build 36	21	39,475,410 - 39,475,951	RGD	NCBI36
Celera	21	25,751,209 - 25,751,750	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,023,870 - 26,024,411	UniSTS

ECD15828

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,301 - 40,547,761	UniSTS	GRCh37
Build 36	21	39,469,171 - 39,469,631	RGD	NCBI36
Celera	21	25,744,970 - 25,745,430	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,630 - 26,018,090	UniSTS

ECD16207

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,780 - 40,548,229	UniSTS	GRCh37
Build 36	21	39,469,650 - 39,470,099	RGD	NCBI36
Celera	21	25,745,449 - 25,745,898	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,018,109 - 26,018,558	UniSTS

ECD16495

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,552,609 - 40,553,046	UniSTS	GRCh37
Build 36	21	39,474,479 - 39,474,916	RGD	NCBI36
Celera	21	25,750,278 - 25,750,715	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,022,939 - 26,023,376	UniSTS

ECD20420

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,548,648 - 40,548,932	UniSTS	GRCh37
Build 36	21	39,470,518 - 39,470,802	RGD	NCBI36
Celera	21	25,746,317 - 25,746,601	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,018,977 - 26,019,261	UniSTS

REN19069

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,449,090 - 40,449,342	UniSTS	GRCh37
Build 36	21	39,370,960 - 39,371,212	RGD	NCBI36
Celera	21	25,646,865 - 25,647,117	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	25,919,547 - 25,919,799	UniSTS

REN19070

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,449,251 - 40,449,491	UniSTS	GRCh37
Build 36	21	39,371,121 - 39,371,361	RGD	NCBI36
Celera	21	25,647,026 - 25,647,266	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	25,919,708 - 25,919,948	UniSTS

REN19071

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,449,490 - 40,449,756	UniSTS	GRCh37
Build 36	21	39,371,360 - 39,371,626	RGD	NCBI36
Celera	21	25,647,265 - 25,647,531	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	25,919,947 - 25,920,213	UniSTS

REN19491

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,546,849 - 40,547,099	UniSTS	GRCh37
Build 36	21	39,468,719 - 39,468,969	RGD	NCBI36
Celera	21	25,744,518 - 25,744,768	RGD
HuRef	21	26,017,178 - 26,017,428	UniSTS

REN19492

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,044 - 40,547,308	UniSTS	GRCh37
Build 36	21	39,468,914 - 39,469,178	RGD	NCBI36
Celera	21	25,744,713 - 25,744,977	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,373 - 26,017,637	UniSTS

REN19493

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,174 - 40,547,423	UniSTS	GRCh37
Build 36	21	39,469,044 - 39,469,293	RGD	NCBI36
Celera	21	25,744,843 - 25,745,092	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,503 - 26,017,752	UniSTS

REN19494

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,398 - 40,547,630	UniSTS	GRCh37
Build 36	21	39,469,268 - 39,469,500	RGD	NCBI36
Celera	21	25,745,067 - 25,745,299	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,727 - 26,017,959	UniSTS

REN19495

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,578 - 40,547,849	UniSTS	GRCh37
Build 36	21	39,469,448 - 39,469,719	RGD	NCBI36
Celera	21	25,745,247 - 25,745,518	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,907 - 26,018,178	UniSTS

REN19496

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,820 - 40,548,072	UniSTS	GRCh37
Build 36	21	39,469,690 - 39,469,942	RGD	NCBI36
Celera	21	25,745,489 - 25,745,741	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,018,149 - 26,018,401	UniSTS

REN19497

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,548,049 - 40,548,290	UniSTS	GRCh37
Build 36	21	39,469,919 - 39,470,160	RGD	NCBI36
Celera	21	25,745,718 - 25,745,959	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,018,378 - 26,018,619	UniSTS

REN19498

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,548,285 - 40,548,542	UniSTS	GRCh37
Build 36	21	39,470,155 - 39,470,412	RGD	NCBI36
Celera	21	25,745,954 - 25,746,211	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,018,614 - 26,018,871	UniSTS

REN19499

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,548,527 - 40,548,787	UniSTS	GRCh37
Build 36	21	39,470,397 - 39,470,657	RGD	NCBI36
Celera	21	25,746,196 - 25,746,456	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,018,856 - 26,019,116	UniSTS

REN19500

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,548,757 - 40,548,985	UniSTS	GRCh37
Build 36	21	39,470,627 - 39,470,855	RGD	NCBI36
Celera	21	25,746,426 - 25,746,654	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,019,086 - 26,019,314	UniSTS

REN19501

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,548,961 - 40,549,224	UniSTS	GRCh37
Build 36	21	39,470,831 - 39,471,094	RGD	NCBI36
Celera	21	25,746,630 - 25,746,893	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,019,290 - 26,019,553	UniSTS

REN19502

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,549,217 - 40,549,470	UniSTS	GRCh37
Build 36	21	39,471,087 - 39,471,340	RGD	NCBI36
Celera	21	25,746,886 - 25,747,139	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,019,546 - 26,019,799	UniSTS

REN19503

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,549,460 - 40,549,705	UniSTS	GRCh37
Build 36	21	39,471,330 - 39,471,575	RGD	NCBI36
Celera	21	25,747,129 - 25,747,374	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,019,789 - 26,020,034	UniSTS

REN19504

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,549,629 - 40,549,893	UniSTS	GRCh37
Build 36	21	39,471,499 - 39,471,763	RGD	NCBI36
Celera	21	25,747,298 - 25,747,562	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,019,958 - 26,020,222	UniSTS

REN19505

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,549,870 - 40,550,120	UniSTS	GRCh37
Build 36	21	39,471,740 - 39,471,990	RGD	NCBI36
Celera	21	25,747,539 - 25,747,789	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,020,199 - 26,020,449	UniSTS

REN19506

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,550,091 - 40,550,337	UniSTS	GRCh37
Build 36	21	39,471,961 - 39,472,207	RGD	NCBI36
Celera	21	25,747,760 - 25,748,006	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,020,420 - 26,020,666	UniSTS

REN19507

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,550,309 - 40,550,559	UniSTS	GRCh37
Build 36	21	39,472,179 - 39,472,429	RGD	NCBI36
Celera	21	25,747,978 - 25,748,228	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,020,638 - 26,020,888	UniSTS

REN19508

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,550,550 - 40,550,797	UniSTS	GRCh37
Build 36	21	39,472,420 - 39,472,667	RGD	NCBI36
Celera	21	25,748,219 - 25,748,466	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,020,879 - 26,021,126	UniSTS

REN19509

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,550,750 - 40,551,000	UniSTS	GRCh37
Build 36	21	39,472,620 - 39,472,870	RGD	NCBI36
Celera	21	25,748,419 - 25,748,669	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,021,079 - 26,021,329	UniSTS

REN19510

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,550,987 - 40,551,238	UniSTS	GRCh37
Build 36	21	39,472,857 - 39,473,108	RGD	NCBI36
Celera	21	25,748,656 - 25,748,907	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,021,316 - 26,021,567	UniSTS

REN19511

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,551,197 - 40,551,442	UniSTS	GRCh37
Build 36	21	39,473,067 - 39,473,312	RGD	NCBI36
Celera	21	25,748,866 - 25,749,111	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,021,526 - 26,021,771	UniSTS

REN19512

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,551,427 - 40,551,684	UniSTS	GRCh37
Build 36	21	39,473,297 - 39,473,554	RGD	NCBI36
Celera	21	25,749,096 - 25,749,353	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,021,756 - 26,022,013	UniSTS

REN19513

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,551,661 - 40,551,910	UniSTS	GRCh37
Build 36	21	39,473,531 - 39,473,780	RGD	NCBI36
Celera	21	25,749,330 - 25,749,579	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,021,990 - 26,022,239	UniSTS

REN19514

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,551,887 - 40,552,135	UniSTS	GRCh37
Build 36	21	39,473,757 - 39,474,005	RGD	NCBI36
Celera	21	25,749,556 - 25,749,804	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,022,216 - 26,022,465	UniSTS

REN19515

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,552,102 - 40,552,339	UniSTS	GRCh37
Build 36	21	39,473,972 - 39,474,209	RGD	NCBI36
Celera	21	25,749,771 - 25,750,008	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,022,432 - 26,022,669	UniSTS

REN19516

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,552,323 - 40,552,564	UniSTS	GRCh37
Build 36	21	39,474,193 - 39,474,434	RGD	NCBI36
Celera	21	25,749,992 - 25,750,233	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,022,653 - 26,022,894	UniSTS

REN19517

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,552,561 - 40,552,791	UniSTS	GRCh37
Build 36	21	39,474,431 - 39,474,661	RGD	NCBI36
Celera	21	25,750,230 - 25,750,460	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,022,891 - 26,023,121	UniSTS

REN19518

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,552,770 - 40,553,011	UniSTS	GRCh37
Build 36	21	39,474,640 - 39,474,881	RGD	NCBI36
Celera	21	25,750,439 - 25,750,680	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,023,100 - 26,023,341	UniSTS

REN19519

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,552,877 - 40,553,127	UniSTS	GRCh37
Build 36	21	39,474,747 - 39,474,997	RGD	NCBI36
Celera	21	25,750,546 - 25,750,796	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,023,207 - 26,023,457	UniSTS

REN19520

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,553,108 - 40,553,346	UniSTS	GRCh37
Build 36	21	39,474,978 - 39,475,216	RGD	NCBI36
Celera	21	25,750,777 - 25,751,015	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,023,438 - 26,023,676	UniSTS

REN19521

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,553,349 - 40,553,597	UniSTS	GRCh37
Build 36	21	39,475,219 - 39,475,467	RGD	NCBI36
Celera	21	25,751,018 - 25,751,266	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,023,679 - 26,023,927	UniSTS

REN19522

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,553,548 - 40,553,820	UniSTS	GRCh37
Build 36	21	39,475,418 - 39,475,690	RGD	NCBI36
Celera	21	25,751,217 - 25,751,489	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,023,878 - 26,024,150	UniSTS

REN19523

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,553,797 - 40,554,030	UniSTS	GRCh37
Build 36	21	39,475,667 - 39,475,900	RGD	NCBI36
Celera	21	25,751,466 - 25,751,699	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,024,127 - 26,024,360	UniSTS

REN19524

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,554,027 - 40,554,278	UniSTS	GRCh37
Build 36	21	39,475,897 - 39,476,148	RGD	NCBI36
Celera	21	25,751,696 - 25,751,947	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,024,357 - 26,024,608	UniSTS

REN19525

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,554,269 - 40,554,503	UniSTS	GRCh37
Build 36	21	39,476,139 - 39,476,373	RGD	NCBI36
Celera	21	25,751,938 - 25,752,172	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,024,599 - 26,024,833	UniSTS

REN19526

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,554,451 - 40,554,710	UniSTS	GRCh37
Build 36	21	39,476,321 - 39,476,580	RGD	NCBI36
Celera	21	25,752,120 - 25,752,379	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,024,781 - 26,025,040	UniSTS

REN19527

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,554,704 - 40,554,954	UniSTS	GRCh37
Build 36	21	39,476,574 - 39,476,824	RGD	NCBI36
Celera	21	25,752,373 - 25,752,623	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,025,034 - 26,025,284	UniSTS

REN19528

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,554,939 - 40,555,179	UniSTS	GRCh37
Build 36	21	39,476,809 - 39,477,049	RGD	NCBI36
Celera	21	25,752,608 - 25,752,848	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,025,269 - 26,025,509	UniSTS

REN19529

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,555,132 - 40,555,391	UniSTS	GRCh37
Build 36	21	39,477,002 - 39,477,261	RGD	NCBI36
Celera	21	25,752,801 - 25,753,060	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,025,462 - 26,025,721	UniSTS

REN19530

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,555,660 - 40,555,931	UniSTS	GRCh37
Build 36	21	39,477,530 - 39,477,801	RGD	NCBI36
Celera	21	25,753,329 - 25,753,600	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,025,992 - 26,026,263	UniSTS

REN19531

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,555,928 - 40,556,180	UniSTS	GRCh37
Build 36	21	39,477,798 - 39,478,050	RGD	NCBI36
Celera	21	25,753,597 - 25,753,849	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,026,260 - 26,026,512	UniSTS

REN19532

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,556,157 - 40,556,404	UniSTS	GRCh37
Build 36	21	39,478,027 - 39,478,274	RGD	NCBI36
Celera	21	25,753,826 - 25,754,073	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,026,489 - 26,026,736	UniSTS

REN19533

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,556,331 - 40,556,577	UniSTS	GRCh37
Build 36	21	39,478,201 - 39,478,447	RGD	NCBI36
Celera	21	25,754,000 - 25,754,246	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,026,663 - 26,026,909	UniSTS

REN19534

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,556,551 - 40,556,782	UniSTS	GRCh37
Build 36	21	39,478,421 - 39,478,652	RGD	NCBI36
Celera	21	25,754,220 - 25,754,451	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,026,883 - 26,027,114	UniSTS

REN19535

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,556,757 - 40,556,997	UniSTS	GRCh37
Build 36	21	39,478,627 - 39,478,867	RGD	NCBI36
Celera	21	25,754,426 - 25,754,666	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,027,089 - 26,027,329	UniSTS

REN19536

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,556,977 - 40,557,220	UniSTS	GRCh37
Build 36	21	39,478,847 - 39,479,090	RGD	NCBI36
Celera	21	25,754,646 - 25,754,889	RGD
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,027,309 - 26,027,552	UniSTS

D12S2018

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,411 - 40,547,560	UniSTS	GRCh37
Build 36	21	39,469,281 - 39,469,430	RGD	NCBI36
Celera	21	25,745,080 - 25,745,229	RGD
Cytogenetic Map	21	q22.3	UniSTS
HuRef	21	26,017,740 - 26,017,889	UniSTS
Whitehead-YAC Contig Map	12		UniSTS

stSG622582

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,547,463 - 40,548,746	UniSTS	GRCh37
Build 36	21	39,469,333 - 39,470,616	RGD	NCBI36
Celera	21	25,745,132 - 25,746,415	RGD
HuRef	21	26,017,792 - 26,019,075	UniSTS

stSG622583

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,548,770 - 40,549,885	UniSTS	GRCh37
Build 36	21	39,470,640 - 39,471,755	RGD	NCBI36
Celera	21	25,746,439 - 25,747,554	RGD
HuRef	21	26,019,099 - 26,020,214	UniSTS

stSG622584

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,549,873 - 40,551,366	UniSTS	GRCh37
Build 36	21	39,471,743 - 39,473,236	RGD	NCBI36
Celera	21	25,747,542 - 25,749,035	RGD
HuRef	21	26,020,202 - 26,021,695	UniSTS

stSG622585

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,551,352 - 40,552,407	UniSTS	GRCh37
Build 36	21	39,473,222 - 39,474,277	RGD	NCBI36
Celera	21	25,749,021 - 25,750,076	RGD
HuRef	21	26,021,681 - 26,022,737	UniSTS

stSG622586

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,552,602 - 40,553,870	UniSTS	GRCh37
Build 36	21	39,474,472 - 39,475,740	RGD	NCBI36
Celera	21	25,750,271 - 25,751,539	RGD
HuRef	21	26,022,932 - 26,024,200	UniSTS

stSG622587

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,553,851 - 40,554,045	UniSTS	GRCh37
Build 36	21	39,475,721 - 39,475,915	RGD	NCBI36
Celera	21	25,751,520 - 25,751,714	RGD
HuRef	21	26,024,181 - 26,024,375	UniSTS

stSG622588

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,554,058 - 40,555,265	UniSTS	GRCh37
Build 36	21	39,475,928 - 39,477,135	RGD	NCBI36
Celera	21	25,751,727 - 25,752,934	RGD
HuRef	21	26,024,388 - 26,025,595	UniSTS

stSG622589

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	40,555,246 - 40,556,516	UniSTS	GRCh37
Build 36	21	39,477,116 - 39,478,386	RGD	NCBI36
Celera	21	25,752,915 - 25,754,185	RGD
HuRef	21	26,025,576 - 26,026,848	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001261824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003720	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_203433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_049728	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054324908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA731200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB451468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF129408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF417108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ006291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315406	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL163279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW594615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY463963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012809	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE779375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM013494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM460414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM462074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM476420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ008489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BR000236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU543452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB160221	(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
	CR541821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR541852	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FN152980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000331573 ⟹ ENSP00000329915

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,174,769 - 39,183,451 (-)	Ensembl

Ensembl Acc Id:

ENST00000380900 ⟹ ENSP00000370286

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,175,590 - 39,183,488 (-)	Ensembl

Ensembl Acc Id:

ENST00000411828 ⟹ ENSP00000410810

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,175,588 - 39,183,287 (-)	Ensembl

Ensembl Acc Id:

ENST00000431628 ⟹ ENSP00000398569

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,175,590 - 39,183,385 (-)	Ensembl

Ensembl Acc Id:

ENST00000481921

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	39,175,458 - 39,178,820 (-)	Ensembl

RefSeq Acc Id:

NM_001261824 ⟹ NP_001248753

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,175,446 - 39,183,514 (-)	NCBI
GRCh37	21	40,449,076 - 40,555,440 (-)	NCBI
HuRef	21	26,017,701 - 26,025,770 (-)	NCBI
CHM1_1	21	40,108,716 - 40,116,785 (-)	NCBI
T2T-CHM13v2.0	21	37,560,015 - 37,568,084 (-)	NCBI

Sequence:

show sequence

CTGTGCGCGGAGGGCGTGGCCTGTGCGGGGCGGGACTTATTGCCCGCGCGGTGAGGGAGCGTGG
TCTCGCGCAAGCCGGCGTGCGGTCCCGCGGCGCTGCAGTTGTGTCCAGCCGGTCACGGGGCGGC
TATGGCGGCCACGTTCTTCGGAGAGGTGGTGAAGGCGCCGTGCCGAGCTGGGACTGAGGACGAA
GAGGAGGAGGAGGAGGGGCGGAGGGAGACGCCCGAGGACAGGGAGGTGCGTCTGCAGCTGGCGC
GGAAGAGGGAAGTGCGGCTCCTTCGAAGACAAACAAAAACATCTTTGGAAGTTTCTTTGCTAGA
AAAATATCCGTGCTCCAAGTTTATAATTGCTATAGGAAATAATGCAGTAGCATTTCTGTCATCA
TTTGTTATGAATTCAGGAGTCTGGGAGGAAGTTGGTTGTGCTAAACTCTGGAATGAATGGTGTA
GAACAACAGACACTACACATCTGTCCTCCACAGAGGCTTTTTGTGTGTTTTATCATCTAAAATC
CAATCCCTCGTGCAGTTGCTATGTTGCAGAAGATCAACAGTATCAGTGGCTGGAAAAGGTTTTT
GGCTCTTGTCCAAGGAAGAACATGCAGATAACTATTCTCACATGTCGACATGTTACCGATTATA
AAACCTCAGAATCCACCGGCAGCCTTCCTTCTCCTTTCCTGAGAGCCCTAAAAACACAGAATTT
CAAAGACTCGGCGTGTTGTCCATTGCTAGAACAACCGAATATAGTACACGACCTTCCTGCAGCA
GTTCTAAGCTACTGTCAAGTATGGAAAATCCCAGCAATTCTGTACTTGTGTTATACTGATGTGA
TGAAATTAGACCTAATCACAGTGGAAGCTTTTAAGCCTATACTTTCTACCAGAAGCTTGAAGGG
TTTGGTTAAGAATATTCCCCAAAGCACTGAGATACTAAAGAAATTGATGACAACAAATGAGATT
CAGAGTAACATTTATACATGATCTTAAACATTGTTTTGTAGTGTATATTACTTGTCCATTCCTT
TAAGGGGAGCAGCCTGCACTCTTTTGTAGATTACTTTTGGGGGATATATTTTGAGAATGATGAA
ACGGAATAAAATTGTAAAAAATTAATTGTAGTTTTAA

hide sequence

RefSeq Acc Id:

NM_001320795 ⟹ NP_001307724

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,175,458 - 39,183,514 (-)	NCBI
CHM1_1	21	40,108,732 - 40,116,785 (-)	NCBI
T2T-CHM13v2.0	21	37,560,031 - 37,568,084 (-)	NCBI

Sequence:

show sequence

CTGTGCGCGGAGGGCGTGGCCTGTGCGGGGCGGGACTTATTGCCCGCGCGGTGAGGGAGCGTGG
TCTCGCGCAAGCCGGCGTGCGGTCCCGCGGCGCTGCAGTTGTGTCCAGCCGGTCACGGGGCGGC
TATGGCGGCCACGTTCTTCGGAGAGGTGGTGAAGGCGCCGTGCCGAGCTGGGACTGAGGACGAA
GAGGAGGAGGAGGAGGGGCGGAGGGAGACGCCCGAGGACAGGGAGGTGCGTCTGCAGCTGGCGC
GGAAGAGGTGAGGCACCGGGATAAGGGCAGCGCGCTCACCGCAGCTGGAAGGTGCGCGGGCCTG
GCAGCCGCGACGGCGCCTAAGGCCGGGGCTCCGCGGTCTTCCGAGTGGCCCCCGCGGTTGCCGC
CGCTCCTTGGCTCTGCTTGGGCCCTGGGTCTCCGTGAAGCCGCGGCGTCCAGCGGCGCCAGCCC
CAGGGAAGTGCGGCTCCTTCGAAGACAAACAAAAACATCTTTGGAAGTTTCTTTGCTAGAAAAA
TATCCGTGCTCCAAGTTTATAATTGCTATAGGAAATAATGCAGTAGCATTTCTGTCATCATTTG
TTATGAATTCAGGAGTCTGGGAGGAAGTTGGTTGTGCTAAACTCTGGAATGAATGGTGTAGAAC
AACAGACACTACACATCTGTCCTCCACAGAGGCTTTTTGTGTGTTTTATCATCTAAAATCCAAT
CCCTCGGTTTTTCTCTGTCAGTGCAGTTGCTATGTTGCAGAAGATCAACAGTATCAGTGGCTGG
AAAAGGTTTTTGGCTCTTGTCCAAGGAAGAACATGCAGATAACTATTCTCACATGTCGACATGT
TACCGATTATAAAACCTCAGAATCCACCGGCAGCCTTCCTTCTCCTTTCCTGAGAGCCCTAAAA
ACACAGAATTTCAAAGACTCGGCGTGTTGTCCATTGCTAGAACAACCGAATATAGTACACGACC
TTCCTGCAGCAGTTCTAAGCTACTGTCAAGTATGGAAAATCCCAGCAATTCTGTACTTGTGTTA
TACTGATGTGATGAAATTAGACCTAATCACAGTGGAAGCTTTTAAGCCTATACTTTCTACCAGA
AGCTTGAAGGGTTTGGTTAAGAATATTCCCCAAAGCACTGAGATACTAAAGAAATTGATGACAA
CAAATGAGATTCAGAGTAACATTTATACATGATCTTAAACATTGTTTTGTAGTGTATATTACTT
GTCCATTCCTTTAAGGGGAGCAGCCTGCACTCTTTTGTAGATTACTTTTGGGGGATATATTTTG
AGAATGATGAAACGGAATAAAATTGTAAAAAATTAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_003720 ⟹ NP_003711

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,174,769 - 39,183,451 (-)	NCBI
GRCh37	21	40,449,076 - 40,555,440 (-)	NCBI
Build 36	21	39,469,254 - 39,477,310 (-)	NCBI Archive
HuRef	21	26,017,701 - 26,025,770 (-)	NCBI
CHM1_1	21	40,108,716 - 40,116,785 (-)	NCBI
T2T-CHM13v2.0	21	37,559,338 - 37,568,021 (-)	NCBI

Sequence:

show sequence

GTCTCGCGCAAGCCGGCGTGCGGTCCCGCGGCGCTGCAGTTGTGTCCAGCCGGTCACGGGGCGG
CTATGGCGGCCACGTTCTTCGGAGAGGTGGTGAAGGCGCCGTGCCGAGCTGGGACTGAGGACGA
AGAGGAGGAGGAGGAGGGGCGGAGGGAGACGCCCGAGGACAGGGAGGTGCGTCTGCAGCTGGCG
CGGAAGAGGGAAGTGCGGCTCCTTCGAAGACAAACAAAAACATCTTTGGAAGTTTCTTTGCTAG
AAAAATATCCGTGCTCCAAGTTTATAATTGCTATAGGAAATAATGCAGTAGCATTTCTGTCATC
ATTTGTTATGAATTCAGGAGTCTGGGAGGAAGTTGGTTGTGCTAAACTCTGGAATGAATGGTGT
AGAACAACAGACACTACACATCTGTCCTCCACAGAGGCTTTTTGTGTGTTTTATCATCTAAAAT
CCAATCCCTCGGTTTTTCTCTGTCAGTGCAGTTGCTATGTTGCAGAAGATCAACAGTATCAGTG
GCTGGAAAAGGTTTTTGGCTCTTGTCCAAGGAAGAACATGCAGATAACTATTCTCACATGTCGA
CATGTTACCGATTATAAAACCTCAGAATCCACCGGCAGCCTTCCTTCTCCTTTCCTGAGAGCCC
TAAAAACACAGAATTTCAAAGACTCGGCGTGTTGTCCATTGCTAGAACAACCGAATATAGTACA
CGACCTTCCTGCAGCAGTTCTAAGCTACTGTCAAGTATGGAAAATCCCAGCAATTCTGTACTTG
TGTTATACTGATGTGATGAAATTAGACCTAATCACAGTGGAAGCTTTTAAGCCTATACTTTCTA
CCAGAAGCTTGAAGGGTTTGGTTAAGAATATTCCCCAAAGCACTGAGATACTAAAGAAATTGAT
GACAACAAATGAGATTCAGAGTAACATTTATACATGATCTTAAACATTGTTTTGTAGTGTATAT
TACTTGTCCATTCCTTTAAGGGGAGCAGCCTGCACTCTTTTGTAGATTACTTTTGGGGGATATA
TTTTGAGAATGATGAAACGGAATAAAATTGTAAAAAATTAATTGTAGTTTTAATTCCTTATTTA
TGGTGGTATTATTCACAACCAAAATAAGCCAAGCATTTTCCTTTTATCCACTAGGTGGGAGTAT
TGTTGTATTTGAATATTTTAAGGTACTATAGTTAAATTTTTATCTTATTTATTTATTTATTTAT
TTTTTGAGGCTGGGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGTGTGCTATCATGGTTCACTG
CATCCTCGACCTCCTGGGCTCAAGCATTTCCCCCGCCTCGGCCTCCCAAAATGCTGGGATTACA
GGTGTGAGCCACTGTGCCCAACTTTAGTTAAATTTTTCAAAGCTACAGATATCAGCAGATGGTA
TTCATGTGGCAAAGTGTAGTTAATTAGGTGTAACTATTCATTGACCTGTTGGTGATTCTTAATA
TGTGGAAAGTTTCTGGATATTTTAGGAGTCCTGCAGTTTTTTTTATCTTGTGGGTAAAAATTGA
TGACAAAGTAACAAAATTATATATTTACTAAAAATGAAACAGAAATGTGTATGTCCTCACTTTT
TAGTAATATCTGACAGATAGCCTCTTCACCCAGACTTTCCCAGGGCTCTCTTTCAAGGCTGGCT
CTGCGCGTGTCAGCAGTTCTCTTACAGTCATGTGTTATCATTAGGAGTGTGAATGGAATCATGA
ACCCGGAGTAGCCACACAACTTCACA

hide sequence

RefSeq Acc Id:

NM_203433 ⟹ NP_982257

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,175,446 - 39,183,514 (-)	NCBI
GRCh37	21	40,449,076 - 40,555,440 (-)	NCBI
Build 36	21	39,469,254 - 39,477,310 (-)	NCBI Archive
HuRef	21	26,017,701 - 26,025,770 (-)	NCBI
CHM1_1	21	40,108,716 - 40,116,785 (-)	NCBI
T2T-CHM13v2.0	21	37,560,015 - 37,568,084 (-)	NCBI

Sequence:

show sequence

CTGTGCGCGGAGGGCGTGGCCTGTGCGGGGCGGGACTTATTGCCCGCGCGGTGAGGGAGCGTGG
TCTCGCGCAAGCCGGCGTGCGGTCCCGCGGCGCTGCAGTTGTGTCCAGCCGGTCACGGGGCGGC
TATGGCGGCCACGTTCTTCGGAGAGGTGGTGAAGGCGCCGTGCCGAGCTGGGACTGAGGACGAA
GAGGAGGAGGAGGAGGGGCGGAGGGAGACGCCCGAGGACAGGGAGGTGCGTCTGCAGCTGGCGC
GGAAGAGGGAAGTGCGGCTCCTTCGAAGACAAACAAAAACATCTTTGGAAGTTTCTTTGCTAGA
AAAATATCCGTGCTCCAAGTTTATAATTGCTATAGGAAATAATGCAGTAGCATTTCTGTCATCA
TTTGTTATGAATTCAGGAGTCTGGGAGGAAGTTGGTTGTGCTAAACTCTGGAATGAATGGTGTA
GAACAACAGACACTACACATCTGTCCTCCACAGAGGCTTTTTGTGTGTTTTATCATCTAAAATC
CAATCCCTCGGTTTTTGGCTCTTGTCCAAGGAAGAACATGCAGATAACTATTCTCACATGTCGA
CATGTTACCGATTATAAAACCTCAGAATCCACCGGCAGCCTTCCTTCTCCTTTCCTGAGAGCCC
TAAAAACACAGAATTTCAAAGACTCGGCGTGTTGTCCATTGCTAGAACAACCGAATATAGTACA
CGACCTTCCTGCAGCAGTTCTAAGCTACTGTCAAGTATGGAAAATCCCAGCAATTCTGTACTTG
TGTTATACTGATGTGATGAAATTAGACCTAATCACAGTGGAAGCTTTTAAGCCTATACTTTCTA
CCAGAAGCTTGAAGGGTTTGGTTAAGAATATTCCCCAAAGCACTGAGATACTAAAGAAATTGAT
GACAACAAATGAGATTCAGAGTAACATTTATACATGATCTTAAACATTGTTTTGTAGTGTATAT
TACTTGTCCATTCCTTTAAGGGGAGCAGCCTGCACTCTTTTGTAGATTACTTTTGGGGGATATA
TTTTGAGAATGATGAAACGGAATAAAATTGTAAAAAATTAATTGTAGTTTTAA

hide sequence

RefSeq Acc Id:

NR_049728

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,175,446 - 39,183,514 (-)	NCBI
GRCh37	21	40,449,076 - 40,555,440 (-)	NCBI
HuRef	21	26,017,701 - 26,025,770 (-)	NCBI
CHM1_1	21	40,108,716 - 40,116,785 (-)	NCBI
T2T-CHM13v2.0	21	37,560,015 - 37,568,084 (-)	NCBI

Sequence:

show sequence

CTGTGCGCGGAGGGCGTGGCCTGTGCGGGGCGGGACTTATTGCCCGCGCGGTGAGGGAGCGTGG
TCTCGCGCAAGCCGGCGTGCGGTCCCGCGGCGCTGCAGTTGTGTCCAGCCGGTCACGGGGCGGC
TATGGCGGCCACGTTCTTCGGAGAGGTGGTGAAGGCGCCGTGCCGAGCTGGGACTGAGGACGAA
GAGGAGGAGGAGGAGGGGCGGAGGGAGACGCCCGAGGACAGGGAGGTGCGTCTGCAGCTGGCGC
GGAAGAGCATTTCTGTCATCATTTGTTATGAATTCAGGAGTCTGGGAGGAAGTTGGTTGTGCTA
AACTCTGGAATGAATGGTGTAGAACAACAGACACTACACATCTGTCCTCCACAGAGGCTTTTTG
TGTGTTTTATCATCTAAAATCCAATCCCTCGGTTTTTCTCTGTCAGTGCAGTTGCTATGTTGCA
GAAGATCAACAGTATCAGTGGCTGGAAAAGGTTTTTGGCTCTTGTCCAAGGAAGAACATGCAGA
TAACTATTCTCACATGTCGACATGTTACCGATTATAAAACCTCAGAATCCACCGGCAGCCTTCC
TTCTCCTTTCCTGAGAGCCCTAAAAACACAGAATTTCAAAGACTCGGCGTGTTGTCCATTGCTA
GAACAACCGAATATAGTACACGACCTTCCTGCAGCAGTTCTAAGCTACTGTCAAGTATGGAAAA
TCCCAGCAATTCTGTACTTGTGTTATACTGATGTGATGAAATTAGACCTAATCACAGTGGAAGC
TTTTAAGCCTATACTTTCTACCAGAAGCTTGAAGGGTTTGGTTAAGAATATTCCCCAAAGCACT
GAGATACTAAAGAAATTGATGACAACAAATGAGATTCAGAGTAACATTTATACATGATCTTAAA
CATTGTTTTGTAGTGTATATTACTTGTCCATTCCTTTAAGGGGAGCAGCCTGCACTCTTTTGTA
GATTACTTTTGGGGGATATATTTTGAGAATGATGAAACGGAATAAAATTGTAAAAAATTAATTG
TAGTTTTAA

hide sequence

RefSeq Acc Id:

XM_024452135 ⟹ XP_024307903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,174,769 - 39,183,514 (-)	NCBI

Sequence:

show sequence

GGCGGCTATGGCGGCCACGTTCTTCGGAGAGGTGGTGAAGGCGCCGTGCCGAGCTGGGACTGAG
GACGAAGAGGAGGAGGAGGAGGGGCGGAGGGAGACGCCCGAGGACAGGGAGGTGCGTCTGCAGC
TGGCGCGGAAGAGTTTCATCTTGTTTCTTGTGTTAGGGAAGTGCGGCTCCTTCGAAGACAAACA
AAAACATCTTTGGAAGTTTCTTTGCTAGAAAAATATCCGTGCTCCAAGTTTATAATTGCTATAG
GAAATAATGCAGTAGCATTTCTGTCATCATTTGTTATGAATTCAGGAGTCTGGGAGGAAGTTGG
TTGTGCTAAACTCTGGAATGAATGGTGTAGAACAACAGACACTACACATCTGTCCTCCACAGAG
GCTTTTTGTGTGTTTTATCATCTAAAATCCAATCCCTCGGTTTTTCTCTGTCAGTGCAGTTGCT
ATGTTGCAGAAGATCAACAGTATCAGTGGCTGGAAAAGGTTTTTGGCTCTTGTCCAAGGAAGAA
CATGCAGATAACTATTCTCACATGTCGACATGTTACCGATTATAAAACCTCAGAATCCACCGGC
AGCCTTCCTTCTCCTTTCCTGAGAGCCCTAAAAACACAGAATTTCAAAGACTCGGCGTGTTGTC
CATTGCTAGAACAACCGAATATAGTACACGACCTTCCTGCAGCAGTTCTAAGCTACTGTCAAGT
ATGGAAAATCCCAGCAATTCTGTACTTGTGTTATACTGATGTGATGAAATTAGACCTAATCACA
GTGGAAGCTTTTAAGCCTATACTTTCTACCAGAAGCTTGAAGGGTTTGGTTAAGAATATTCCCC
AAAGCACTGAGATACTAAAGAAATTGATGACAACAAATGAGATTCAGAGTAACATTTATACATG
ATCTTAAACATTGTTTTGTAGTGTATATTACTTGTCCATTCCTTTAAGGGGAGCAGCCTGCACT
CTTTTGTAGATTACTTTTGGGGGATATATTTTGAGAATGATGAAACGGAATAAAATTGTAAAAA
ATTAA

hide sequence

RefSeq Acc Id:

XM_054324908 ⟹ XP_054180883

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	21	37,559,338 - 37,568,084 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001248753	(Get FASTA)	NCBI Sequence Viewer
	NP_001307724	(Get FASTA)	NCBI Sequence Viewer
	NP_003711	(Get FASTA)	NCBI Sequence Viewer
	NP_982257	(Get FASTA)	NCBI Sequence Viewer
	XP_024307903	(Get FASTA)	NCBI Sequence Viewer
	XP_054180883	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH03619	(Get FASTA)	NCBI Sequence Viewer
	AAH10424	(Get FASTA)	NCBI Sequence Viewer
	AAH11755	(Get FASTA)	NCBI Sequence Viewer
	AAH12809	(Get FASTA)	NCBI Sequence Viewer
	AAR25628	(Get FASTA)	NCBI Sequence Viewer
	BAG37798	(Get FASTA)	NCBI Sequence Viewer
	BAG70282	(Get FASTA)	NCBI Sequence Viewer
	CAA06957	(Get FASTA)	NCBI Sequence Viewer
	CAB90451	(Get FASTA)	NCBI Sequence Viewer
	CAG46620	(Get FASTA)	NCBI Sequence Viewer
	CAG46650	(Get FASTA)	NCBI Sequence Viewer
	EAX09664	(Get FASTA)	NCBI Sequence Viewer
	EAX09665	(Get FASTA)	NCBI Sequence Viewer
	EAX09666	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000329915
	ENSP00000329915.3
	ENSP00000370286
	ENSP00000370286.2
	ENSP00000398569.1
	ENSP00000410810.1
GenBank Protein	FAA00022	(Get FASTA)	NCBI Sequence Viewer
	O95456	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_982257 ⟸ NM_203433
- Peptide Label:	isoform b
- UniProtKB:	B2RD51 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAATFFGEVVKAPCRAGTEDEEEEEEGRRETPEDREVRLQLARKREVRLLRRQTKTSLEVSLLE KYPCSKFIIAIGNNAVAFLSSFVMNSGVWEEVGCAKLWNEWCRTTDTTHLSSTEAFCVFYHLKS NPSVFGSCPRKNMQITILTCRHVTDYKTSESTGSLPSPFLRALKTQNFKDSACCPLLEQPNIVH DLPAAVLSYCQVWKIPAILYLCYTDVMKLDLITVEAFKPILSTRSLKGLVKNIPQSTEILKKLM TTNEIQSNIYT hide sequence

RefSeq Acc Id:	NP_003711 ⟸ NM_003720
- Peptide Label:	isoform a
- UniProtKB:	Q6FHD3 (UniProtKB/Swiss-Prot), Q6FHA3 (UniProtKB/Swiss-Prot), B5BUN2 (UniProtKB/Swiss-Prot), Q6S713 (UniProtKB/Swiss-Prot), O95456 (UniProtKB/Swiss-Prot), B2RD51 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAATFFGEVVKAPCRAGTEDEEEEEEGRRETPEDREVRLQLARKREVRLLRRQTKTSLEVSLLE KYPCSKFIIAIGNNAVAFLSSFVMNSGVWEEVGCAKLWNEWCRTTDTTHLSSTEAFCVFYHLKS NPSVFLCQCSCYVAEDQQYQWLEKVFGSCPRKNMQITILTCRHVTDYKTSESTGSLPSPFLRAL KTQNFKDSACCPLLEQPNIVHDLPAAVLSYCQVWKIPAILYLCYTDVMKLDLITVEAFKPILST RSLKGLVKNIPQSTEILKKLMTTNEIQSNIYT hide sequence

RefSeq Acc Id:	NP_001248753 ⟸ NM_001261824
- Peptide Label:	isoform 3
- UniProtKB:	B2RD51 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAATFFGEVVKAPCRAGTEDEEEEEEGRRETPEDREVRLQLARKREVRLLRRQTKTSLEVSLLE KYPCSKFIIAIGNNAVAFLSSFVMNSGVWEEVGCAKLWNEWCRTTDTTHLSSTEAFCVFYHLKS NPSCSCYVAEDQQYQWLEKVFGSCPRKNMQITILTCRHVTDYKTSESTGSLPSPFLRALKTQNF KDSACCPLLEQPNIVHDLPAAVLSYCQVWKIPAILYLCYTDVMKLDLITVEAFKPILSTRSLKG LVKNIPQSTEILKKLMTTNEIQSNIYT hide sequence

RefSeq Acc Id:

NP_001307724 ⟸ NM_001320795

- Peptide Label:

isoform d

- Sequence:

show sequence

MNSGVWEEVGCAKLWNEWCRTTDTTHLSSTEAFCVFYHLKSNPSVFLCQCSCYVAEDQQYQWLE
KVFGSCPRKNMQITILTCRHVTDYKTSESTGSLPSPFLRALKTQNFKDSACCPLLEQPNIVHDL
PAAVLSYCQVWKIPAILYLCYTDVMKLDLITVEAFKPILSTRSLKGLVKNIPQSTEILKKLMTT
NEIQSNIYT

hide sequence

RefSeq Acc Id:

XP_024307903 ⟸ XM_024452135

- Peptide Label:

isoform X1

- Sequence:

show sequence

MNSGVWEEVGCAKLWNEWCRTTDTTHLSSTEAFCVFYHLKSNPSVFLCQCSCYVAEDQQYQWLE
KVFGSCPRKNMQITILTCRHVTDYKTSESTGSLPSPFLRALKTQNFKDSACCPLLEQPNIVHDL
PAAVLSYCQVWKIPAILYLCYTDVMKLDLITVEAFKPILSTRSLKGLVKNIPQSTEILKKLMTT
NEIQSNIYT

hide sequence

Ensembl Acc Id:

ENSP00000329915 ⟸ ENST00000331573

Ensembl Acc Id:

ENSP00000410810 ⟸ ENST00000411828

Ensembl Acc Id:

ENSP00000398569 ⟸ ENST00000431628

Ensembl Acc Id:

ENSP00000370286 ⟸ ENST00000380900

RefSeq Acc Id:	XP_054180883 ⟸ XM_054324908
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O95456-F1-model_v2	AlphaFold	O95456	1-288	view protein structure

Promoters

RGD ID:

13602832

Promoter ID:

EPDNEW_H27600

Type:

initiation region

Name:

PSMG1_1

Description:

proteasome assembly chaperone 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	39,183,414 - 39,183,474	EPDNEW

RGD ID:

6799561

Promoter ID:

HG_KWN:40890

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:

ENST00000380900, OTTHUMT00000141404, OTTHUMT00000141408, UC010GOB.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	39,477,136 - 39,477,897 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3043	AgrOrtholog
COSMIC	PSMG1	COSMIC
Ensembl Genes	ENSG00000183527	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000331573	ENTREZGENE
	ENST00000331573.8	UniProtKB/Swiss-Prot
	ENST00000380900	ENTREZGENE
	ENST00000380900.2	UniProtKB/Swiss-Prot
	ENST00000411828.5	UniProtKB/TrEMBL
	ENST00000431628.1	UniProtKB/TrEMBL
GTEx	ENSG00000183527	GTEx
HGNC ID	HGNC:3043	ENTREZGENE
Human Proteome Map	PSMG1	Human Proteome Map
InterPro	Proteasome_assmbl_chp_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8624	UniProtKB/Swiss-Prot
NCBI Gene	8624	ENTREZGENE
OMIM	605296	OMIM
PANTHER	PROTEASOME ASSEMBLY CHAPERONE 1	UniProtKB/Swiss-Prot
	PROTEASOME ASSEMBLY CHAPERONE 1	UniProtKB/TrEMBL
	PROTEASOME ASSEMBLY CHAPERONE 1	UniProtKB/TrEMBL
	PTHR15069	UniProtKB/Swiss-Prot
Pfam	PAC1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162400229	PharmGKB
PIRSF	Psome_chaperone-1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B2RD51	ENTREZGENE, UniProtKB/TrEMBL
	B5BUN2	ENTREZGENE
	F8WBH7_HUMAN	UniProtKB/TrEMBL
	H7C3B4_HUMAN	UniProtKB/TrEMBL
	O95456	ENTREZGENE, UniProtKB/Swiss-Prot
	Q6FHA3	ENTREZGENE
	Q6FHD3	ENTREZGENE
	Q6S713	ENTREZGENE
UniProt Secondary	B5BUN2	UniProtKB/Swiss-Prot
	Q6FHA3	UniProtKB/Swiss-Prot
	Q6FHD3	UniProtKB/Swiss-Prot
	Q6S713	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-10	PSMG1	proteasome assembly chaperone 1		proteasome (prosome, macropain) assembly chaperone 1	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)

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