MSI1 (musashi RNA binding protein 1)

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Gene: MSI1 (musashi RNA binding protein 1) Homo sapiens

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Symbol:

MSI1

Name:

musashi RNA binding protein 1

RGD ID:

731816

HGNC Page

HGNC:7330

Description:

Enables identical protein binding activity. Predicted to be involved in central nervous system development and regulation of translation. Predicted to be located in nucleus. Predicted to be active in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

musashi RNA-binding protein 1; musashi-1; musashi1; RNA-binding protein Musashi homolog 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Msi1 (musashi RNA-binding protein 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Msi1 (musashi RNA-binding protein 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Msi1 (musashi RNA binding protein 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MSI1 (musashi RNA binding protein 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	MSI1 (musashi RNA binding protein 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Msi1 (musashi RNA binding protein 1)	NCBI	Ortholog
Sus scrofa (pig):	MSI1 (musashi RNA binding protein 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MSI1 (musashi RNA binding protein 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Msi1 (musashi RNA binding protein 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Msi2 (musashi RNA-binding protein 2)	HGNC	OrthoDB
Sus scrofa (pig):	MSI2 (musashi RNA binding protein 2)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Bcl7b (BAF chromatin remodeling complex subunit BCL7B)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Msi1 (musashi RNA-binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Msi1 (musashi RNA-binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	msi1 (musashi RNA-binding protein 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	zgc:110796	Alliance	DIOPT (OrthoFinder\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	HRP1	Alliance	DIOPT (OrthoInspector\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Rbp6	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	msi-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	msi1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	msi1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	msi1.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

LOC268276

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	12	120,339,662 - 120,369,164 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	120,341,330 - 120,369,164 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	120,779,133 - 120,806,967 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	119,263,516 - 119,291,341 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	119,241,852 - 119,269,678	NCBI
Celera	12	120,412,237 - 120,440,052 (-)	NCBI		Celera
Cytogenetic Map	12	q24.31	NCBI
HuRef	12	117,787,331 - 117,814,272 (-)	NCBI		HuRef
CHM1_1	12	120,747,072 - 120,774,927 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	120,326,839 - 120,356,341 (-)	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

brain infarction (ISO)

brain ischemia (ISO)

short chain acyl-CoA dehydrogenase deficiency (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

3,3',5-triiodo-L-thyronine (ISO)

4,4'-sulfonyldiphenol (ISO)

5-aza-2'-deoxycytidine (EXP)

all-trans-retinoic acid (EXP)

alpha-Zearalanol (ISO)

ammonium chloride (ISO)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (EXP)

calcitriol (EXP)

choline (ISO)

cisplatin (EXP)

diarsenic trioxide (EXP)

doxorubicin (EXP)

eckol (EXP)

ethanol (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

genistein (ISO)

gentamycin (ISO)

L-methionine (ISO)

lead(0) (EXP)

lithium chloride (EXP)

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

paracetamol (ISO)

perfluorooctanoic acid (ISO)

permethrin (ISO)

poly(I:C) (EXP)

pyriproxyfen (ISO)

resveratrol (EXP)

SB 431542 (EXP)

tamibarotene (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

central nervous system development (IBA)

epithelial cell differentiation (IEA,ISO)

nervous system development (TAS)

regulation of translation (IBA)

response to hormone (IEA,ISO)

Cellular Component

cytoplasm (IBA,IEA)

nucleus (IEA)

Molecular Function

identical protein binding (IEA,IPI)

molecular condensate scaffold activity (IEA)

mRNA binding (IBA)

poly(U) RNA binding (IEA)

protein binding (IPI)

protein homodimerization activity (IEA)

RNA binding (HDA,IEA,TAS)

single-stranded RNA binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

mRNA decay pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	Differential expression of Musashi1 and nestin in the adult rat hippocampus after ischemia.	Yagita Y, etal., J Neurosci Res 2002 Sep 15;69(6):750-6.
5.	Proliferation and differentiation of neural stem cells in adult rats after cerebral infarction.	Zhang B, etal., Chin Med Sci J. 2004 Jun;19(2):73-7.

Additional References at PubMed

PMID:9790759	PMID:11284014	PMID:11359897	PMID:11588182	PMID:11686236	PMID:11896183	PMID:11951628	PMID:12054577	PMID:12907678	PMID:12924647	PMID:14702039	PMID:16106215
PMID:16169070	PMID:16214366	PMID:16541075	PMID:16777095	PMID:17549630	PMID:18419830	PMID:18471519	PMID:18473332	PMID:18826648	PMID:19214660	PMID:19258308	PMID:19714342
PMID:20020773	PMID:20727204	PMID:21165952	PMID:21199875	PMID:21442350	PMID:21751144	PMID:21829201	PMID:21832049	PMID:21873635	PMID:21881409	PMID:22012766	PMID:22113197
PMID:22258704	PMID:22681889	PMID:22985791	PMID:23017339	PMID:23164718	PMID:23418578	PMID:23715514	PMID:24022895	PMID:24057325	PMID:24061461	PMID:24151393	PMID:24163304
PMID:24365097	PMID:24444033	PMID:24452324	PMID:24525742	PMID:24778252	PMID:24787949	PMID:25362645	PMID:25380226	PMID:25394506	PMID:25747387	PMID:25773390	PMID:25851660
PMID:25888190	PMID:25940441	PMID:25971681	PMID:26100017	PMID:26191146	PMID:26294058	PMID:26563371	PMID:26673327	PMID:26972000	PMID:27142513	PMID:27281208	PMID:27285760
PMID:27470713	PMID:27505670	PMID:28088346	PMID:28143872	PMID:28216140	PMID:28302793	PMID:28380382	PMID:28431233	PMID:28514442	PMID:28572454	PMID:28713964	PMID:28821879
PMID:28853072	PMID:29053956	PMID:29141252	PMID:29298432	PMID:29395067	PMID:29486283	PMID:29745066	PMID:29802200	PMID:29845934	PMID:30097032	PMID:30209976	PMID:30322656
PMID:30362859	PMID:30367664	PMID:30554943	PMID:30940648	PMID:30959276	PMID:31004009	PMID:31052494	PMID:31059073	PMID:31532069	PMID:31603583	PMID:31692135	PMID:31753913
PMID:31822558	PMID:31903115	PMID:31907147	PMID:32203420	PMID:32245259	PMID:32296183	PMID:32707033	PMID:32780197	PMID:32807901	PMID:32855391	PMID:32877691	PMID:32945509
PMID:33001583	PMID:33120728	PMID:33306668	PMID:33541259	PMID:33961781	PMID:34155343	PMID:34291358	PMID:34309875	PMID:34468911	PMID:34687317	PMID:34768932	PMID:35011618
PMID:35241646	PMID:35446349	PMID:35563538	PMID:35803934	PMID:35840700	PMID:36215168	PMID:36244648	PMID:36537216	PMID:36538041	PMID:36854751	PMID:36995659	PMID:36996499
PMID:37267103	PMID:37314180	PMID:37314216	PMID:37481823	PMID:37607966	PMID:37794589	PMID:37858462

Genomics

Comparative Map Data

MSI1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	120,339,662 - 120,369,164 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	120,341,330 - 120,369,164 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	120,779,133 - 120,806,967 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	119,263,516 - 119,291,341 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	119,241,852 - 119,269,678	NCBI
Celera	12	120,412,237 - 120,440,052 (-)	NCBI		Celera
Cytogenetic Map	12	q24.31	NCBI
HuRef	12	117,787,331 - 117,814,272 (-)	NCBI		HuRef
CHM1_1	12	120,747,072 - 120,774,927 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	120,326,839 - 120,356,341 (-)	NCBI		T2T-CHM13v2.0

Msi1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	115,567,734 - 115,593,757 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	115,567,658 - 115,593,757 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	115,359,059 - 115,455,698 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	115,429,599 - 115,455,698 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	115,879,694 - 115,904,211 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	115,690,684 - 115,715,201 (+)	NCBI		MGSCv36	mm8
Celera	5	112,528,152 - 112,553,235 (+)	NCBI		Celera
Cytogenetic Map	5	F	NCBI
cM Map	5	56.09	NCBI

Msi1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	46,815,225 - 46,911,852 (-)	NCBI		GRCr8
mRatBN7.2	12	41,158,301 - 41,251,134 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	41,158,599 - 41,191,076 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	42,329,615 - 42,351,639 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	42,943,282 - 42,965,305 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	42,003,827 - 42,025,850 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	46,899,835 - 46,935,335 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	46,895,447 - 46,920,952 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	48,696,700 - 48,731,989 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	42,425,957 - 42,462,517 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	42,289,344 - 42,310,487 (-)	NCBI
Celera	12	42,786,001 - 42,821,164 (-)	NCBI		Celera
Cytogenetic Map	12	q16	NCBI

Msi1
(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_004955455	11,268,650 - 11,298,378 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955455	11,269,486 - 11,298,342 (+)	NCBI	ChiLan1.0	ChiLan1.0

MSI1
(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	10	128,402,554 - 128,430,509 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	128,398,931 - 128,426,786 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	117,915,879 - 117,943,772 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	121,289,281 - 121,316,276 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	121,289,281 - 121,316,276 (-)	Ensembl	panpan1.1		panPan2

MSI1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	16,266,302 - 16,288,980 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	16,266,586 - 16,289,012 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	16,270,168 - 16,292,838 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	16,533,308 - 16,556,005 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	16,533,366 - 16,555,993 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	16,494,719 - 16,517,389 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	16,571,374 - 16,594,034 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	16,614,085 - 16,635,848 (-)	NCBI		UU_Cfam_GSD_1.0

Msi1
(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_024405118	146,074,570 - 146,097,615 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936668	573,453 - 596,696 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936668	573,459 - 595,278 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MSI1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	40,331,377 - 40,356,788 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	40,331,371 - 40,356,793 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	42,789,298 - 42,812,679 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MSI1
(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	11	115,691,313 - 115,719,268 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666037	129,383,701 - 129,411,767 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Msi1
(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_004624747	13,291,071 - 13,316,532 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624747	13,290,999 - 13,316,410 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MSI1
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	copy number gain	See cases [RCV000050866]	Chr12:118165459..133182322 [GRCh38] Chr12:118603264..133758908 [GRCh37] Chr12:117087647..132268981 [NCBI36] Chr12:12q24.23-24.33	pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	copy number gain	See cases [RCV000051981]	Chr12:119286893..122638552 [GRCh38] Chr12:119724698..123123099 [GRCh37] Chr12:118209081..121689052 [NCBI36] Chr12:12q24.23-24.31	uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	copy number gain	See cases [RCV000053689]	Chr12:115131583..133166920 [GRCh38] Chr12:115569388..133743506 [GRCh37] Chr12:114053771..132253579 [NCBI36] Chr12:12q24.21-24.33	pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]\|See cases [RCV000053691]	Chr12:119417382..133191400 [GRCh38] Chr12:119855187..133767986 [GRCh37] Chr12:118339570..132278059 [NCBI36] Chr12:12q24.23-24.33	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	copy number gain	See cases [RCV000143656]	Chr12:114268403..133201316 [GRCh38] Chr12:114706208..133777902 [GRCh37] Chr12:113190591..132287975 [NCBI36] Chr12:12q24.21-24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)x3	copy number gain	See cases [RCV000447605]	Chr12:118486842..120995382 [GRCh37] Chr12:12q24.23-24.31	likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:120600171-120812991)x3	copy number gain	See cases [RCV000448236]	Chr12:120600171..120812991 [GRCh37] Chr12:12q24.23-24.31	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_002442.4(MSI1):c.1064C>T (p.Thr355Ile)	single nucleotide variant	not specified [RCV004322028]	Chr12:120345616 [GRCh38] Chr12:120783419 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.220G>A (p.Val74Met)	single nucleotide variant	not specified [RCV004293901]	Chr12:120368055 [GRCh38] Chr12:120805858 [GRCh37] Chr12:12q24.31	uncertain significance
GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	copy number gain	not provided [RCV000683452]	Chr12:120516089..121376736 [GRCh37] Chr12:12q24.23-24.31	uncertain significance
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3	copy number gain	not provided [RCV000738070]	Chr12:120367241..133777645 [GRCh37] Chr12:12q24.23-24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_002442.4(MSI1):c.452-3T>C	single nucleotide variant	not provided [RCV000894770]	Chr12:120357901 [GRCh38] Chr12:120795704 [GRCh37] Chr12:12q24.31	likely benign
NM_002442.4(MSI1):c.216G>C (p.Ala72=)	single nucleotide variant	not provided [RCV000917670]	Chr12:120368059 [GRCh38] Chr12:120805862 [GRCh37] Chr12:12q24.31	benign
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213]	Chr12:117461902..133841395 [GRCh37] Chr12:12q24.22-24.33	likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	copy number gain	not specified [RCV002053027]	Chr12:118486842..120995382 [GRCh37] Chr12:12q24.23-24.31	likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3	copy number gain	not provided [RCV002473613]	Chr12:120665945..120951612 [GRCh37] Chr12:12q24.23-24.31	uncertain significance
NM_002442.4(MSI1):c.14C>A (p.Ala5Glu)	single nucleotide variant	not specified [RCV004095093]	Chr12:120369078 [GRCh38] Chr12:120806881 [GRCh37] Chr12:12q24.31	uncertain significance
GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4	copy number gain	not provided [RCV002475870]	Chr12:120761046..121280839 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.832G>A (p.Ala278Thr)	single nucleotide variant	not specified [RCV004218362]	Chr12:120347473 [GRCh38] Chr12:120785276 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.530A>C (p.Lys177Thr)	single nucleotide variant	not specified [RCV004159643]	Chr12:120357820 [GRCh38] Chr12:120795623 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.292C>T (p.Arg98Trp)	single nucleotide variant	not specified [RCV004176943]	Chr12:120364731 [GRCh38] Chr12:120802534 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.938C>T (p.Pro313Leu)	single nucleotide variant	not specified [RCV004148006]	Chr12:120346244 [GRCh38] Chr12:120784047 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.578C>T (p.Thr193Met)	single nucleotide variant	not specified [RCV004299722]	Chr12:120356976 [GRCh38] Chr12:120794779 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.821C>T (p.Ala274Val)	single nucleotide variant	not specified [RCV004337299]	Chr12:120347484 [GRCh38] Chr12:120785287 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.492G>T (p.Glu164Asp)	single nucleotide variant	not specified [RCV004498417]	Chr12:120357858 [GRCh38] Chr12:120795661 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.14C>T (p.Ala5Val)	single nucleotide variant	not specified [RCV004498410]	Chr12:120369078 [GRCh38] Chr12:120806881 [GRCh37] Chr12:12q24.31	uncertain significance
NM_002442.4(MSI1):c.896C>T (p.Ser299Leu)	single nucleotide variant	not specified [RCV004646619]	Chr12:120346286 [GRCh38] Chr12:120784089 [GRCh37] Chr12:12q24.31	uncertain significance
NC_000012.11:g.(?_120270555)_(124242579_?)dup	duplication	Deficiency of butyryl-CoA dehydrogenase [RCV004578383]	Chr12:120270555..124242579 [GRCh37] Chr12:12q24.23-24.31	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR128-1	hsa-miR-128-3p	OncomiRDB	external_info	NA	NA	21881409
MIR101-2	hsa-miR-101-3p	OncomiRDB	external_info	NA	NA	21881409
MIR34A	hsa-miR-34a-5p	OncomiRDB	external_info	NA	NA	21881409
MIR138-2	hsa-miR-138-5p	OncomiRDB	external_info	NA	NA	21881409
MIR138-1	hsa-miR-138-5p	OncomiRDB	external_info	NA	NA	21881409
MIR137	hsa-miR-137	OncomiRDB	external_info	NA	NA	21881409
MIR101-1	hsa-miR-101-3p	OncomiRDB	external_info	NA	NA	21881409

Predicted Target Of

	Summary Value
Count of predictions:	2228
Count of miRNA genes:	875
Interacting mature miRNAs:	1061
Transcripts:	ENST00000257552, ENST00000546622, ENST00000546985
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
407357287	GWAS1006263_H	BMI-adjusted hip circumference QTL GWAS1006263 (human)		2e-08	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	12	120366891	120366892	Human
1298449	UAE2_H	Urinary albumin excretion QTL 2 (human)	2	0.005	Urinary albumin excretion	urine albumin:creatinine ratio (ACR)	12	102836889	128836889	Human
1643258	BW205_H	Body weight QTL 205 (human)	4.08	0.00001	Body fat amount	percent body fat	12	96630114	122630114	Human
1643452	BW104_H	Body weight QTL 104 (human)	1.89	0.005	Body fat amount	abdominal visceral	12	102395874	128395874	Human
407011428	GWAS660404_H	rheumatoid arthritis QTL GWAS660404 (human)		2e-08	rheumatoid arthritis		12	120363020	120363021	Human
406906776	GWAS555752_H	BMI-adjusted waist-hip ratio QTL GWAS555752 (human)		0.000005	BMI-adjusted waist-hip ratio		12	120354050	120354051	Human
406935162	GWAS584138_H	brain volume measurement QTL GWAS584138 (human)		3e-08	brain volume measurement	brain morphological measurement (CMO:0000136)	12	120363296	120363297	Human
406928589	GWAS577565_H	brain volume measurement QTL GWAS577565 (human)		3e-09	brain volume measurement	brain morphological measurement (CMO:0000136)	12	120363296	120363297	Human

Markers in Region

RH118532

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	120,779,360 - 120,779,647	UniSTS	GRCh37
Build 36	12	119,263,743 - 119,264,030	RGD	NCBI36
Celera	12	120,412,464 - 120,412,751	RGD
Cytogenetic Map	12	q24	UniSTS
HuRef	12	117,787,558 - 117,787,845	UniSTS
TNG Radiation Hybrid Map	12	59206.0	UniSTS

WI-17776

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	120,779,166 - 120,779,297	UniSTS	GRCh37
GRCh37	11	73,401,647 - 73,401,783	UniSTS	GRCh37
Build 36	11	73,079,295 - 73,079,431	RGD	NCBI36
Celera	12	120,412,270 - 120,412,401	UniSTS
Celera	11	70,707,030 - 70,707,165	RGD
Cytogenetic Map	11	q13.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	117,787,364 - 117,787,495	UniSTS
GeneMap99-GB4 RH Map	12	465.41	UniSTS
Whitehead-RH Map	12	579.8	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	renal system	reproductive system	respiratory system	sensory system	visual system
1187	2414	2601	2109	4948	1709	2307	4	608	1124	449	2238	6230	5502	49	3725	835	1729	1587	171	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001414485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006719404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538361	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372088	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB012851	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB072590	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB072591	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB072592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB073212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC003982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI583233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX393884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB886867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC944276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000257552 ⟹ ENSP00000257552

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	120,341,330 - 120,369,164 (-)	Ensembl

Ensembl Acc Id:

ENST00000546622

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	120,353,323 - 120,361,508 (-)	Ensembl

Ensembl Acc Id:

ENST00000546985 ⟹ ENSP00000446710

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	120,346,222 - 120,368,069 (-)	Ensembl

RefSeq Acc Id:

NM_001414485 ⟹ NP_001401414

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414486 ⟹ NP_001401415

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414487 ⟹ NP_001401416

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414488 ⟹ NP_001401417

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414489 ⟹ NP_001401418

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,368,277 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,355,454 (-)	NCBI

RefSeq Acc Id:

NM_001414490 ⟹ NP_001401419

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,368,109 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,355,286 (-)	NCBI

RefSeq Acc Id:

NM_001414491 ⟹ NP_001401420

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,368,109 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,355,286 (-)	NCBI

RefSeq Acc Id:

NM_001414492 ⟹ NP_001401421

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,368,109 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,355,286 (-)	NCBI

RefSeq Acc Id:

NM_001414493 ⟹ NP_001401422

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,368,277 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,355,454 (-)	NCBI

RefSeq Acc Id:

NM_001414494 ⟹ NP_001401423

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414495 ⟹ NP_001401424

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414496 ⟹ NP_001401425

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414497 ⟹ NP_001401426

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_001414498 ⟹ NP_001401427

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

NM_002442 ⟹ NP_002433

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI
GRCh37	12	120,779,133 - 120,806,983 (-)	NCBI
Build 36	12	119,263,516 - 119,291,341 (-)	NCBI Archive
HuRef	12	117,787,331 - 117,814,272 (-)	ENTREZGENE
CHM1_1	12	120,747,072 - 120,774,927 (-)	NCBI
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

Sequence:

show sequence

ATCTGCCCCGCGCCGAGCGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCTGCCCGCGCCGCCCG
CGGCTCCCGATGGAGACTGACGCGCCCCAGCCCGGCCTCGCCTCCCCGGACTCGCCGCACGACC
CCTGCAAGATGTTCATCGGGGGACTCAGTTGGCAGACTACGCAGGAAGGGCTGCGCGAATACTT
CGGCCAGTTCGGGGAGGTGAAGGAGTGTCTGGTGATGCGGGACCCCCTGACCAAGAGATCCAGG
GGTTTCGGCTTCGTCACTTTCATGGACCAGGCGGGGGTGGATAAAGTGCTGGCGCAATCGCGGC
ACGAGCTCGACTCCAAAACAATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGAT
GGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTG
AAGCAATATTTTGAGCAGTTTGGGAAGGTGGACGACGCCATGCTGATGTTTGACAAAACCACCA
ACCGGCACCGAGGGTTCGGGTTTGTCACGTTTGAGAGTGAGGACATCGTGGAGAAAGTGTGTGA
AATTCATTTTCATGAAATCAACAACAAAATGGTGGAATGTAAGAAAGCTCAGCCAAAGGAGGTG
ATGTCGCCAACGGGCTCAGCCCGGGGGAGGTCTCGAGTCATGCCCTACGGAATGGACGCCTTCA
TGCTGGGCATCGGCATGCTGGGTTACCCAGGTTTCCAAGCCACAACCTACGCCAGCCGGAGTTA
TACAGGCCTCGCCCCTGGCTACACCTACCAGTTCCCCGAATTCCGTGTAGAGCGGACCCCTCTC
CCGAGCGCCCCAGTCCTCCCCGAGCTTACAGCCATTCCTCTCACTGCCTACGGACCAATGGCGG
CGGCAGCGGCGGCAGCGGCTGTGGTTCGAGGGACAGGCTCTCACCCCTGGACGATGGCTCCCCC
TCCAGGTTCGACTCCCAGCCGCACAGGGGGCTTCCTGGGGACCACCAGCCCCGGCCCCATGGCC
GAGCTCTACGGGGCGGCCAACCAGGACTCGGGGGTCAGCAGTTACATCAGCGCCGCCAGCCCTG
CCCCCAGCACCGGCTTCGGCCACAGTCTTGGGGGCCCTTTGATTGCCACAGCCTTCACCAATGG
GTACCACTGAAGCAGGGGACGGTGGCAGGAGCGCCCCAGCCTGCAGCTGACTGAGGACCACGAG
TGAGCCAGCGAGGGGGCGGGAGACCTCAGCCGCAGCCGCCGCCCCCTCCCCTGCAGCGACTCGG
ACCCGCTACTGCCTGCCCCCAACTCCCCGGGCCCGGCCCCTGCCCTGCTGCCCCCAACAGCGTC
TGGCTCCCCTACTAACGTCCCCCTCTTCGCCCTTGCCCCCATCCCCACCCGCCCCTCTCCCGGC
CCTGCTTTTATTTATTTTGGATTAGCCGGTTGCCCACCCCAGCCCTCTGGTCCATCCCTCCCTC
CGTGCCGCGCCCCCCTAGGACCGCCCCCTCCCCAAAAGGCTTTTGGATTTGTGCATAGCTGGAG
TGAAGGCGGAGGGAGCCTGCTACAGGCCGCAGCCCAACCCCTGTTTTTTATTCAGATTTCCCCT
CCTTTACCCTTTCCCTTTTTTTTTTTTTTTTTTTTTTTAAAGAAACCTTTTTTAAACTATTTCT
AGGTTTGTGAATGTGAAGCCCCAGGCCGCAGGGGGCAAGGGGCCAGGTGCCCCCCACCAGCTGA
GAACAAAGTGTCTATCTGGGTGTGGGCCCCTGGCCGCCTCCCTCCAGCCCTGGAGAGGAGGGCA
GGGCTGCGGGGAGGCCAGGCCGAGCCCCTGGAACCATCCCGTCCTGTATCATATGTAAATACTG
TGAGGTGATGTGCCCACCCCTCTCTAAGACCCCTCGGGGGTGAGGGGCTCCCCCCTCCCCTGTT
TCTGTCCCCTCAGACACCGTTACTGTAAGCTTGCAGGCCTCAGCTGTGGCCACGGCAGGCCCGC
TCTCTCAGGCCCTCAGGGTCAAGGCCTTGGTTGGACCTGCCCACTCCAAAAACCCAGTGTGGGG
GCAAAGGGCGTGGGAAGAGCAGGGCTTGCCCAGCGACACTGCTGGACAGGAATTAACTCTCCAA
AGGTCTCCCCTGCTCCCTACCTAGGTTGGGGCTTCATGGTTTCTGCTCAGTCTGTCCCCCTTCC
CCCTCGACCCCCGCAATGAGTGGGCACCAGGGGACGCTCTGGCGAGGGCAGACCCCAGGGGAAA
GCAAAGGGCGTCTCAGGGAACCCCCACATTCTCTCACTGAAGTTTCCCACCAGGATGACCCCAC
AGCCAGAGTCCCTTGGCAGCCCCTCACCCCAGACCCCCCTTCTAAGGAAAAAGAGAGGTTCAGA
GCGTTGGACCTTCATGAACAGTGGCCTGGCTGGCGTGGCAGGGCCAAGGCCCACCCACTGCCAT
CCCCCTTCTGTGTGTCCCTCTCCCCCAGTTATGAGGCCCAGGGCCTGAGCTCTCTTCCCCAGCA
TTGCCCCCACCCGGAAACCCCACCTTTGGAGAGTTAATTGTCTGTGTGAGGTGCTTAACCTATC
AGCCCTGAGAACACAAAGCAATAATCTTTGTTACTGAGATGCGCGGCTGTTCGTGTTTTGGGTT
TTTTTTTTTTTTAATGTTTCCTAATAAAAGAGAAGCTGCATTTTATTGGTTTTTATTTTTAATT
TTCTACACGTTTGAGCTGAGTCCTGAGACACTTAGCTTCCCTCTCCCTCATTCCCGGACCCTTC
CACCCCACTGGGCCCAACCATGGGCTCAGGACCCTGGAATTCCGTTTTCTGATTTGCTTTGGGA
TTTTTTTTTTTTTTAAGATGTTACATGGTGTTTCGAAGCCAGCAAGTTACCATCCTCCGGTGTC
TCTTCTCTCCACATCTGTAACTTCTTTTTCCAGGTTTTATTTTCAGTTTTAAATTCCTAATAAA
TTATTTGAAAACGTT

hide sequence

RefSeq Acc Id:

XM_006719404 ⟹ XP_006719467

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,363,100 (-)	NCBI

Sequence:

show sequence

AACCGGGCCCCAGGAGAAGCCGTCAGCGGCCGCGTCTTTTGTTCGGGCCTAAATCGGCGTTGGC
ATGTGAAACCGGCCCGGGGAGGCCAGGGGGAGCCGGAGAATAGGCTGCCAGGGAGCGAGGGGGA
CAGCCGGGAATGCCAAGGGCCCCGCGGCGGGGGGCCCCCCGCCCGGATCGAGGGGCCGCCGCCG
AGGGGGGAACAATGGTCAGCCGCCATGGCTGCCACTCAGGCTTAGCGGCCGCCGAACTTGGCGG
CTCGGCTCCTACTGGTGGACGACGCCATGCTGATGTTTGACAAAACCACCAACCGGCACCGAGG
GTTCGGGTTTGTCACGTTTGAGAGTGAGGACATCGTGGAGAAAGTGTGTGAAATTCATTTTCAT
GAAATCAACAACAAAATGGTGGAATGTAAGAAAGCTCAGCCAAAGGAGGTGATGTCGCCAACGG
GCTCAGCCCGGGGGAGGTCTCGAGTCATGCCCTACGGAATGGACGCCTTCATGCTGGGCATCGG
CATGCTGGGTTACCCAGGTTTCCAAGCCACAACCTACGCCAGCCGGAGTTATACAGGCCTCGCC
CCTGGCTACACCTACCAGTTCCCCGAATTCCGTGTAGAGCGGACCCCTCTCCCGAGCGCCCCAG
TCCTCCCCGAGCTTACAGCCATTCCTCTCACTGCCTACGGACCAATGGCGGCGGCAGCGGCGGC
AGCGGCTGTGGTTCGAGGGACAGGCTCTCACCCCTGGACGATGGCTCCCCCTCCAGGTTCGACT
CCCAGCCGCACAGGGGGCTTCCTGGGGACCACCAGCCCCGGCCCCATGGCCGAGCTCTACGGGG
CGGCCAACCAGGACTCGGGGGTCAGCAGTTACATCAGCGCCGCCAGCCCTGCCCCCAGCACCGG
CTTCGGCCACAGTCTTGGGGGCCCTTTGATTGCCACAGCCTTCACCAATGGGTACCACTGAAGC
AGGGGACGGTGGCAGGAGCGCCCCAGCCTGCAGCTGACTGAGGACCACGAGTGAGCCAGCGAGG
GGGCGGGAGACCTCAGCCGCAGCCGCCGCCCCCTCCCCTGCAGCGACTCGGACCCGCTACTGCC
TGCCCCCAACTCCCCGGGCCCGGCCCCTGCCCTGCTGCCCCCAACAGCGTCTGGCTCCCCTACT
AACGTCCCCCTCTTCGCCCTTGCCCCCATCCCCACCCGCCCCTCTCCCGGCCCTGCTTTTATTT
ATTTTGGATTAGCCGGTTGCCCACCCCAGCCCTCTGGTCCATCCCTCCCTCCGTGCCGCGCCCC
CCTAGGACCGCCCCCTCCCCAAAAGGCTTTTGGATTTGTGCATAGCTGGAGTGAAGGCGGAGGG
AGCCTGCTACAGGCCGCAGCCCAACCCCTGTTTTTTATTCAGATTTCCCCTCCTTTACCCTTTC
CCTTTTTTTTTTTTTTTTTTTTTTTAAAGAAACCTTTTTTAAACTATTTCTAGGTTTGTGAATG
TGAAGCCCCAGGCCGCAGGGGGCAAGGGGCCAGGTGCCCCCCACCAGCTGAGAACAAAGTGTCT
ATCTGGGTGTGGGCCCCTGGCCGCCTCCCTCCAGCCCTGGAGAGGAGGGCAGGGCTGCGGGGAG
GCCAGGCCGAGCCCCTGGAACCATCCCGTCCTGTATCATATGTAAATACTGTGAGGTGATGTGC
CCACCCCTCTCTAAGACCCCTCGGGGGTGAGGGGCTCCCCCCTCCCCTGTTTCTGTCCCCTCAG
ACACCGTTACTGTAAGCTTGCAGGCCTCAGCTGTGGCCACGGCAGGCCCGCTCTCTCAGGCCCT
CAGGGTCAAGGCCTTGGTTGGACCTGCCCACTCCAAAAACCCAGTGTGGGGGCAAAGGGCGTGG
GAAGAGCAGGGCTTGCCCAGCGACACTGCTGGACAGGAATTAACTCTCCAAAGGTCTCCCCTGC
TCCCTACCTAGGTTGGGGCTTCATGGTTTCTGCTCAGTCTGTCCCCCTTCCCCCTCGACCCCCG
CAATGAGTGGGCACCAGGGGACGCTCTGGCGAGGGCAGACCCCAGGGGAAAGCAAAGGGCGTCT
CAG

hide sequence

RefSeq Acc Id:

XM_011538361 ⟹ XP_011536663

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,339,662 - 120,369,164 (-)	NCBI

Sequence:

show sequence

CGCGCTCCTCATCTGCCCCGCGCCGAGCGCCGCCGCCGCCGCCGCCGCCGCCGCTCCGCTGCCC
GCGCCGCCCGCGGCTCCCGATGGAGACTGACGCGCCCCAGCCCGGCCTCGCCTCCCCGGACTCG
CCGCACGACCCCTGCAAGATGTTCATCGGGGGACTCAGTTGGCAGACTACGCAGGAAGGGCTGC
GCGAATACTTCGGCCAGTTCGGGGAGGTGAAGGAGTGTCTGGTGATGCGGGACCCCCTGACCAA
GAGATCCAGGGGTTTCGGCTTCGTCACTTTCATGGACCAGGCGGGGGTGGATAAAGTGCTGGCG
CAATCGCGGCACGAGCTCGACTCCAAAACAATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCAC
AGCCCAAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGT
GGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGACGACGCCATGCTGATGTTTGAC
AAAACCACCAACCGGCACCGAGGGTTCGGGTTTGTCACGTTTGAGAGTGAGGACATCGTGGAGA
AAGTGTGTGAAATTCATTTTCATGAAATCAACAACAAAATGGTGGAATGTAAGAAAGCTCAGCC
AAAGGAGGTGATGTCGCCAACGGGCTCAGCCCGGGGGAGGTCTCGAGTCATGCCCTACGGAATG
GACGCCTTCATGCTGGGCATCGGCATGCTGGGTTACCCAGGTTTCCAAGCCACAACCTACGCCA
GCCGGAGTTATACAGGCCTCGCCCCTGGCTACACCTACCAGTTCCCCGAATTCCGTGTAGAGCG
GACCCCTCTCCCGAGCGCCCCAGTCCTCCCCGAGCTTACAGCCATTCCTCTCACTGCCTACGGA
CCAATGGCGGCGGCAGCGGCGGCAGCGGCTGTGGTTCGAGGGACAGGCTCTCACCCCTGGACGA
TGGCTCCCCCTCCAGGTTCGACTCCCAGCCGCACAGGGGGCTTCCTGGGGACCACCAGCCCCGG
CCCCATGGCCGAGCTCTACGGGGCGGCCAACCAGGACTCGGGGGTCAGCAGTTACATCAGCGCC
GCCAGCCCTGCCCCCAGCACCGGCTTCGGCCACAGTCTTGGGGGCCCTTTGATTGCCACAGCCT
TCACCAATGGGTACCACTGAAGCAGGGGACGGTGGCAGGAGTACAGGTTGGGGGTCTTTCACTC
AGGAATTTCATCATCT

hide sequence

RefSeq Acc Id:

XM_011538364 ⟹ XP_011536666

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,364,691 (-)	NCBI

Sequence:

show sequence

GAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATTTTCCCAGTATTTCCTGCTCTGGAAGATG
CTTCTGGAACCTCTGCTTGGAGTGTTTGTGGAATGGGCTGGGCTGGGAAGAGGGGATTCTTGAC
GTCCTTGCTCTGTGGCCTGAAGACACTATATGTCTTTCCACGTGAGCTCTGGGGTGGACTGGAG
AGGGGCTTGTGTGTGTTGGGAGAAAGGGGAGCTACTCAGAGGATTCATCGTCCTGTATTTGAAC
CCAGTAGAGTTTGGAGCCTGAGTCTAATTCCAACATCATAGACCACAGCCTTGATGTCCAGGCC
TCTGGAAGTGAAATACAGGACAGACTTAGACCCTAAGGCCGCGCTACAGGCAGGCTAGGGAGCT
ACCCTTGGATCCCCCCAGTCACCCTTTGCAGAGGCAGAGGGGACCACAGACTCTGTCACCTGTT
GTCTTTCAGTTTAGATGTCTGTGGCTGCTTTCTCAATGCTCTCTTACCCTGCTGCTCTGGCGAG
TTCTCCCAGTGAGAGGGTCAAGGTGCGCAGAAAATGGATTTCTGAGCAGTTGAGTGATACAACA
CTCAAAAAACTTTTGGTGCAGGGCAGGGGCCTAAGAGTCTATTCTAGGCCTCAGGGCAACTAGC
CAGGTCTTCCTTTTGAAGCAATTGAATATAGAGGACAGAAGGAGAGACTGATTGCGGAACATGG
GGTCAGGACCCCTGAGTTTACTGACTTATCATGGGTCCTAGGACGAGGTCCCTCTCTAGGAGAG
TTCGGTTTCCTCCTTTGCCAGGTGGAACTAGAGCTCTTTAAGATTCCGGGCCAGTGAATTCCAT
CAAGTCCCCCAACTCCTGCCAGGGCTGAAGGAGAGGAAGAGTTTTGGGAGACAGGAAAGGGGCA
TCTCTGGAAGGGTCCAGTAGAGGGCCTGAAAGCAATTATGGAGCAGATGGTGACTCGAACGAAG
AAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGC
AGTTTGGGAAGGTGGACGACGCCATGCTGATGTTTGACAAAACCACCAACCGGCACCGAGGGTT
CGGGTTTGTCACGTTTGAGAGTGAGGACATCGTGGAGAAAGTGTGTGAAATTCATTTTCATGAA
ATCAACAACAAAATGGTGGAATGTAAGAAAGCTCAGCCAAAGGAGGTGATGTCGCCAACGGGCT
CAGCCCGGGGGAGGTCTCGAGTCATGCCCTACGGAATGGACGCCTTCATGCTGGGCATCGGCAT
GCTGGGTTACCCAGGTTTCCAAGCCACAACCTACGCCAGCCGGAGTTATACAGGCCTCGCCCCT
GGCTACACCTACCAGTTCCCCGAATTCCGTGTAGAGCGGACCCCTCTCCCGAGCGCCCCAGTCC
TCCCCGAGCTTACAGCCATTCCTCTCACTGCCTACGGACCAATGGCGGCGGCAGCGGCGGCAGC
GGCTGTGGTTCGAGGGACAGGCTCTCACCCCTGGACGATGGCTCCCCCTCCAGGTTCGACTCCC
AGCCGCACAGGGGGCTTCCTGGGGACCACCAGCCCCGGCCCCATGGCCGAGCTCTACGGGGCGG
CCAACCAGGACTCGGGGGTCAGCAGTTACATCAGCGCCGCCAGCCCTGCCCCCAGCACCGGCTT
CGGCCACAGTCTTGGGGGCCCTTTGATTGCCACAGCCTTCACCAATGGGTACCACTGAAGCAGG
GGACGGTGGCAGGAGCGCCCCAGCCTGCAGCTGACTGAGGACCACGAGTGAGCCAGCGAGGGGG
CGGGAGACCTCAGCCGCAGCCGCCGCCCCCTCCCCTGCAGCGACTCGGACCCGCTACTGCCTGC
CCCCAACTCCCCGGGCCCGGCCCCTGCCCTGCTGCCCCCAACAGCGTCTGGCTCCCCTACTAAC
GTCCCCCTCTTCGCCCTTGCCCCCATCCCCACCCGCCCCTCTCCCGGCCCTGCTTTTATTTATT
TTGGATTAGCCGGTTGCCCACCCCAGCCCTCTGGTCCATCCCTCCCTCCGTGCCGCGCCCCCCT
AGGACCGCCCCCTCCCCAAAAGGCTTTTGGATTTGTGCATAGCTGGAGTGAAGGCGGAGGGAGC
CTGCTACAGGCCGCAGCCCAACCCCTGTTTTTTATTCAGATTTCCCCTCCTTTACCCTTTCCCT
TTTTTTTTTTTTTTTTTTTTTTAAAGAAACCTTTTTTAAACTATTTCTAGGTTTGTGAATGTGA
AGCCCCAGGCCGCAGGGGGCAAGGGGCCAGGTGCCCCCCACCAGCTGAGAACAAAGTGTCTATC
TGGGTGTGGGCCCCTGGCCGCCTCCCTCCAGCCCTGGAGAGGAGGGCAGGGCTGCGGGGAGGCC
AGGCCGAGCCCCTGGAACCATCCCGTCCTGTATCATATGTAAATACTGTGAGGTGATGTGCCCA
CCCCTCTCTAAGACCCCTCGGGGGTGAGGGGCTCCCCCCTCCCCTGTTTCTGTCCCCTCAGACA
CCGTTACTGTAAGCTTGCAGGCCTCAGCTGTGGCCACGGCAGGCCCGCTCTCTCAGGCCCTCAG
GGTCAAGGCCTTGGTTGGACCTGCCCACTCCAAAAACCCAGTGTGGGGGCAAAGGGCGTGGGAA
GAGCAGGGCTTGCCCAGCGACACTGCTGGACAGGAATTAACTCTCCAAAGGTCTCCCCTGCTCC
CTACCTAGGTTGGGGCTTCATGGTTTCTGCTCAGTCTGTCCCCCTTCCCCCTCGACCCCCGCAA
TGAGTGGGCACCAGGGGACGCTCTGGCGAGGGCAGACCCCAGGGGAAAGCAAAGGGCGTCTCAG

hide sequence

RefSeq Acc Id:

XM_011538366 ⟹ XP_011536668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,367,955 (-)	NCBI

Sequence:

show sequence

GGAGGCTGCCGGAGGAGAGGGTCAGGACTCTCCCCAGGGGACAGCTGGACGGGGTCCATGAGGA
AGGAGGGAGTTTTTCTGAGTAAGAGGGCTGCCATGCTCTGAAACTTTGTCACTAGAGTTGGGGG
GGAGAGGGAGGAGAAAAATCCCTGGCCTGCCATGAGATGCTACATCCCCCCTCCCCTAGTCCTG
GTGAGGGGAGAGGCAGCCGCCACCCTCTCCCTAGAAGTACTAATCATGATGCCTCAGAGCAGAG
CTTGGGGTGGGGCTAGGTCCCTCCCCCAGCCCAAATTGGGTGAGTCAGGGTAGCACTGACCCAC
CCGGTGGCTTCTGTGAACTCTAACTAGTATTTGGCTCTGCGACACCCCCTCTTCATCCAGACCA
ATGGCAAAGCATCCCTTGAAGCCCCCTCCCTCTCTCCTTCCCTCCTCCCCCGACTTTTGGTCAA
TGAGCTCCTTGCTTTGTGTGGAAGACAGGGACCTGCTTTGCCCACGGAGGGGATTTATGAGAAA
GGCTCTAGCTTGCCTGGAAACGACCCTTCGGAAGACTAGATCTTAGGAGAAGCTGCTTGGTTGG
CATTCAAACTCATGGAACATTTTGCTGTTGTCCCACAGCTCCTTCGTGTCTTAGACCCTGCAGG
GGGCGCTGGCTCCAGGGCAGATGGAAAAGTAGAAAAGTCAGAGGAGGGGGTTACTCCCATGTGA
TGGGGGTGTCTGTCTGCTGGGGGCAGGGATAGTGTGGATCTCTTCTCTCCATGCTTCCCTGCTG
TCCCCCAGCCTTGGGCCTCTCTGCTTGGGTCAGTCCCTGGCTCCCGTTTACCTGCAACAATAGC
TGCTTGTGCCCAAGAATTTGTCAAATTACCGCCTGTCCCCAGCTCCTGTTATCTCTGCCCAGTG
GCTCCCGCTCCCGCTCGCAGTAATGAGCAAATGAGGCCAGGCCTCAACTTTGCCGGCTCTGAAA
GGATCTTCTTGGCGCAGCCTGAGTGACCCAAGCCTGGAAATGGAGAGACAGTGGCCTATTGTTT
TTGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGATGGTGACTCGAACGAAGA
AGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCA
GTTTGGGAAGGTGGACGACGCCATGCTGATGTTTGACAAAACCACCAACCGGCACCGAGGGTTC
GGGTTTGTCACGTTTGAGAGTGAGGACATCGTGGAGAAAGTGTGTGAAATTCATTTTCATGAAA
TCAACAACAAAATGGTGGAATGTAAGAAAGCTCAGCCAAAGGAGGTGATGTCGCCAACGGGCTC
AGCCCGGGGGAGGTCTCGAGTCATGCCCTACGGAATGGACGCCTTCATGCTGGGCATCGGCATG
CTGGGTTACCCAGGTTTCCAAGCCACAACCTACGCCAGCCGGAGTTATACAGGCCTCGCCCCTG
GCTACACCTACCAGTTCCCCGAATTCCGTGTAGAGCGGACCCCTCTCCCGAGCGCCCCAGTCCT
CCCCGAGCTTACAGCCATTCCTCTCACTGCCTACGGACCAATGGCGGCGGCAGCGGCGGCAGCG
GCTGTGGTTCGAGGGACAGGCTCTCACCCCTGGACGATGGCTCCCCCTCCAGGTTCGACTCCCA
GCCGCACAGGGGGCTTCCTGGGGACCACCAGCCCCGGCCCCATGGCCGAGCTCTACGGGGCGGC
CAACCAGGACTCGGGGGTCAGCAGTTACATCAGCGCCGCCAGCCCTGCCCCCAGCACCGGCTTC
GGCCACAGTCTTGGGGGCCCTTTGATTGCCACAGCCTTCACCAATGGGTACCACTGAAGCAGGG
GACGGTGGCAGGAGCGCCCCAGCCTGCAGCTGACTGAGGACCACGAGTGAGCCAGCGAGGGGGC
GGGAGACCTCAGCCGCAGCCGCCGCCCCCTCCCCTGCAGCGACTCGGACCCGCTACTGCCTGCC
CCCAACTCCCCGGGCCCGGCCCCTGCCCTGCTGCCCCCAACAGCGTCTGGCTCCCCTACTAACG
TCCCCCTCTTCGCCCTTGCCCCCATCCCCACCCGCCCCTCTCCCGGCCCTGCTTTTATTTATTT
TGGATTAGCCGGTTGCCCACCCCAGCCCTCTGGTCCATCCCTCCCTCCGTGCCGCGCCCCCCTA
GGACCGCCCCCTCCCCAAAAGGCTTTTGGATTTGTGCATAGCTGGAGTGAAGGCGGAGGGAGCC
TGCTACAGGCCGCAGCCCAACCCCTGTTTTTTATTCAGATTTCCCCTCCTTTACCCTTTCCCTT
TTTTTTTTTTTTTTTTTTTTTAAAGAAACCTTTTTTAAACTATTTCTAGGTTTGTGAATGTGAA
GCCCCAGGCCGCAGGGGGCAAGGGGCCAGGTGCCCCCCACCAGCTGAGAACAAAGTGTCTATCT
GGGTGTGGGCCCCTGGCCGCCTCCCTCCAGCCCTGGAGAGGAGGGCAGGGCTGCGGGGAGGCCA
GGCCGAGCCCCTGGAACCATCCCGTCCTGTATCATATGTAAATACTGTGAGGTGATGTGCCCAC
CCCTCTCTAAGACCCCTCGGGGGTGAGGGGCTCCCCCCTCCCCTGTTTCTGTCCCCTCAGACAC
CGTTACTGTAAGCTTGCAGGCCTCAGCTGTGGCCACGGCAGGCCCGCTCTCTCAGGCCCTCAGG
GTCAAGGCCTTGGTTGGACCTGCCCACTCCAAAAACCCAGTGTGGGGGCAAAGGGCGTGGGAAG
AGCAGGGCTTGCCCAGCGACACTGCTGGACAGGAATTAACTCTCCAAAGGTCTCCCCTGCTCCC
TACCTAGGTTGGGGCTTCATGGTTTCTGCTCAGTCTGTCCCCCTTCCCCCTCGACCCCCGCAAT
GAGTGGGCACCAGGGGACGCTCTGGCGAGGGCAGACCCCAGGGGAAAGCAAAGGGCGTCTCAG

hide sequence

RefSeq Acc Id:

XM_011538368 ⟹ XP_011536670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,361,471 (-)	NCBI

Sequence:

show sequence

CCAGGAGGGGACACCGGTGGGGCTAACCCGGACCCCCAGCCATCTTCCTTGCCCCCTGCCCTGG
CCTCAACCCCACCGTCCCACTAGGGGCCTCTCCAGCCAAGGCCCAGGTGGACGACGCCATGCTG
ATGTTTGACAAAACCACCAACCGGCACCGAGGGTTCGGGTTTGTCACGTTTGAGAGTGAGGACA
TCGTGGAGAAAGTGTGTGAAATTCATTTTCATGAAATCAACAACAAAATGGTGGAATGTAAGAA
AGCTCAGCCAAAGGAGGTGATGTCGCCAACGGGCTCAGCCCGGGGGAGGTCTCGAGTCATGCCC
TACGGAATGGACGCCTTCATGCTGGGCATCGGCATGCTGGGTTACCCAGGTTTCCAAGCCACAA
CCTACGCCAGCCGGAGTTATACAGGCCTCGCCCCTGGCTACACCTACCAGTTCCCCGAATTCCG
TGTAGAGCGGACCCCTCTCCCGAGCGCCCCAGTCCTCCCCGAGCTTACAGCCATTCCTCTCACT
GCCTACGGACCAATGGCGGCGGCAGCGGCGGCAGCGGCTGTGGTTCGAGGGACAGGCTCTCACC
CCTGGACGATGGCTCCCCCTCCAGGTTCGACTCCCAGCCGCACAGGGGGCTTCCTGGGGACCAC
CAGCCCCGGCCCCATGGCCGAGCTCTACGGGGCGGCCAACCAGGACTCGGGGGTCAGCAGTTAC
ATCAGCGCCGCCAGCCCTGCCCCCAGCACCGGCTTCGGCCACAGTCTTGGGGGCCCTTTGATTG
CCACAGCCTTCACCAATGGGTACCACTGAAGCAGGGGACGGTGGCAGGAGCGCCCCAGCCTGCA
GCTGACTGAGGACCACGAGTGAGCCAGCGAGGGGGCGGGAGACCTCAGCCGCAGCCGCCGCCCC
CTCCCCTGCAGCGACTCGGACCCGCTACTGCCTGCCCCCAACTCCCCGGGCCCGGCCCCTGCCC
TGCTGCCCCCAACAGCGTCTGGCTCCCCTACTAACGTCCCCCTCTTCGCCCTTGCCCCCATCCC
CACCCGCCCCTCTCCCGGCCCTGCTTTTATTTATTTTGGATTAGCCGGTTGCCCACCCCAGCCC
TCTGGTCCATCCCTCCCTCCGTGCCGCGCCCCCCTAGGACCGCCCCCTCCCCAAAAGGCTTTTG
GATTTGTGCATAGCTGGAGTGAAGGCGGAGGGAGCCTGCTACAGGCCGCAGCCCAACCCCTGTT
TTTTATTCAGATTTCCCCTCCTTTACCCTTTCCCTTTTTTTTTTTTTTTTTTTTTTTAAAGAAA
CCTTTTTTAAACTATTTCTAGGTTTGTGAATGTGAAGCCCCAGGCCGCAGGGGGCAAGGGGCCA
GGTGCCCCCCACCAGCTGAGAACAAAGTGTCTATCTGGGTGTGGGCCCCTGGCCGCCTCCCTCC
AGCCCTGGAGAGGAGGGCAGGGCTGCGGGGAGGCCAGGCCGAGCCCCTGGAACCATCCCGTCCT
GTATCATATGTAAATACTGTGAGGTGATGTGCCCACCCCTCTCTAAGACCCCTCGGGGGTGAGG
GGCTCCCCCCTCCCCTGTTTCTGTCCCCTCAGACACCGTTACTGTAAGCTTGCAGGCCTCAGCT
GTGGCCACGGCAGGCCCGCTCTCTCAGGCCCTCAGGGTCAAGGCCTTGGTTGGACCTGCCCACT
CCAAAAACCCAGTGTGGGGGCAAAGGGCGTGGGAAGAGCAGGGCTTGCCCAGCGACACTGCTGG
ACAGGAATTAACTCTCCAAAGGTCTCCCCTGCTCCCTACCTAGGTTGGGGCTTCATGGTTTCTG
CTCAGTCTGTCCCCCTTCCCCCTCGACCCCCGCAATGAGTGGGCACCAGGGGACGCTCTGGCGA
GGGCAGACCCCAGGGGAAAGCAAAGGGCGTCTCAG

hide sequence

RefSeq Acc Id:

XM_011538370 ⟹ XP_011536672

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,361,369 (-)	NCBI

Sequence:

show sequence

GATGGTGGCCTTCCTTGCAGGGTTGGGTGGAGGAAGGTGGACGACGCCATGCTGATGTTTGACA
AAACCACCAACCGGCACCGAGGGTTCGGGTTTGTCACGTTTGAGAGTGAGGACATCGTGGAGAA
AGTGTGTGAAATTCATTTTCATGAAATCAACAACAAAATGGTGGAATGTAAGAAAGCTCAGCCA
AAGGAGGTGATGTCGCCAACGGGCTCAGCCCGGGGGAGGTCTCGAGTCATGCCCTACGGAATGG
ACGCCTTCATGCTGGGCATCGGCATGCTGGGTTACCCAGGTTTCCAAGCCACAACCTACGCCAG
CCGGAGTTATACAGGCCTCGCCCCTGGCTACACCTACCAGTTCCCCGAATTCCGTGTAGAGCGG
ACCCCTCTCCCGAGCGCCCCAGTCCTCCCCGAGCTTACAGCCATTCCTCTCACTGCCTACGGAC
CAATGGCGGCGGCAGCGGCGGCAGCGGCTGTGGTTCGAGGGACAGGCTCTCACCCCTGGACGAT
GGCTCCCCCTCCAGGTTCGACTCCCAGCCGCACAGGGGGCTTCCTGGGGACCACCAGCCCCGGC
CCCATGGCCGAGCTCTACGGGGCGGCCAACCAGGACTCGGGGGTCAGCAGTTACATCAGCGCCG
CCAGCCCTGCCCCCAGCACCGGCTTCGGCCACAGTCTTGGGGGCCCTTTGATTGCCACAGCCTT
CACCAATGGGTACCACTGAAGCAGGGGACGGTGGCAGGAGCGCCCCAGCCTGCAGCTGACTGAG
GACCACGAGTGAGCCAGCGAGGGGGCGGGAGACCTCAGCCGCAGCCGCCGCCCCCTCCCCTGCA
GCGACTCGGACCCGCTACTGCCTGCCCCCAACTCCCCGGGCCCGGCCCCTGCCCTGCTGCCCCC
AACAGCGTCTGGCTCCCCTACTAACGTCCCCCTCTTCGCCCTTGCCCCCATCCCCACCCGCCCC
TCTCCCGGCCCTGCTTTTATTTATTTTGGATTAGCCGGTTGCCCACCCCAGCCCTCTGGTCCAT
CCCTCCCTCCGTGCCGCGCCCCCCTAGGACCGCCCCCTCCCCAAAAGGCTTTTGGATTTGTGCA
TAGCTGGAGTGAAGGCGGAGGGAGCCTGCTACAGGCCGCAGCCCAACCCCTGTTTTTTATTCAG
ATTTCCCCTCCTTTACCCTTTCCCTTTTTTTTTTTTTTTTTTTTTTTAAAGAAACCTTTTTTAA
ACTATTTCTAGGTTTGTGAATGTGAAGCCCCAGGCCGCAGGGGGCAAGGGGCCAGGTGCCCCCC
ACCAGCTGAGAACAAAGTGTCTATCTGGGTGTGGGCCCCTGGCCGCCTCCCTCCAGCCCTGGAG
AGGAGGGCAGGGCTGCGGGGAGGCCAGGCCGAGCCCCTGGAACCATCCCGTCCTGTATCATATG
TAAATACTGTGAGGTGATGTGCCCACCCCTCTCTAAGACCCCTCGGGGGTGAGGGGCTCCCCCC
TCCCCTGTTTCTGTCCCCTCAGACACCGTTACTGTAAGCTTGCAGGCCTCAGCTGTGGCCACGG
CAGGCCCGCTCTCTCAGGCCCTCAGGGTCAAGGCCTTGGTTGGACCTGCCCACTCCAAAAACCC
AGTGTGGGGGCAAAGGGCGTGGGAAGAGCAGGGCTTGCCCAGCGACACTGCTGGACAGGAATTA
ACTCTCCAAAGGTCTCCCCTGCTCCCTACCTAGGTTGGGGCTTCATGGTTTCTGCTCAGTCTGT
CCCCCTTCCCCCTCGACCCCCGCAATGAGTGGGCACCAGGGGACGCTCTGGCGAGGGCAGACCC
CAGGGGAAAGCAAAGGGCGTCTCAG

hide sequence

RefSeq Acc Id:

XM_011538371 ⟹ XP_011536673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,361,549 (-)	NCBI

Sequence:

show sequence

CCTATTAAGGACACTGGGCCGGGAGCCTCCCTCCCCTCAGCTCGCCCCAGGAGGGGACACCGGT
GGACGACGCCATGCTGATGTTTGACAAAACCACCAACCGGCACCGAGGGTTCGGGTTTGTCACG
TTTGAGAGTGAGGACATCGTGGAGAAAGTGTGTGAAATTCATTTTCATGAAATCAACAACAAAA
TGGTGGAATGTAAGAAAGCTCAGCCAAAGGAGGTGATGTCGCCAACGGGCTCAGCCCGGGGGAG
GTCTCGAGTCATGCCCTACGGAATGGACGCCTTCATGCTGGGCATCGGCATGCTGGGTTACCCA
GGTTTCCAAGCCACAACCTACGCCAGCCGGAGTTATACAGGCCTCGCCCCTGGCTACACCTACC
AGTTCCCCGAATTCCGTGTAGAGCGGACCCCTCTCCCGAGCGCCCCAGTCCTCCCCGAGCTTAC
AGCCATTCCTCTCACTGCCTACGGACCAATGGCGGCGGCAGCGGCGGCAGCGGCTGTGGTTCGA
GGGACAGGCTCTCACCCCTGGACGATGGCTCCCCCTCCAGGTTCGACTCCCAGCCGCACAGGGG
GCTTCCTGGGGACCACCAGCCCCGGCCCCATGGCCGAGCTCTACGGGGCGGCCAACCAGGACTC
GGGGGTCAGCAGTTACATCAGCGCCGCCAGCCCTGCCCCCAGCACCGGCTTCGGCCACAGTCTT
GGGGGCCCTTTGATTGCCACAGCCTTCACCAATGGGTACCACTGAAGCAGGGGACGGTGGCAGG
AGCGCCCCAGCCTGCAGCTGACTGAGGACCACGAGTGAGCCAGCGAGGGGGCGGGAGACCTCAG
CCGCAGCCGCCGCCCCCTCCCCTGCAGCGACTCGGACCCGCTACTGCCTGCCCCCAACTCCCCG
GGCCCGGCCCCTGCCCTGCTGCCCCCAACAGCGTCTGGCTCCCCTACTAACGTCCCCCTCTTCG
CCCTTGCCCCCATCCCCACCCGCCCCTCTCCCGGCCCTGCTTTTATTTATTTTGGATTAGCCGG
TTGCCCACCCCAGCCCTCTGGTCCATCCCTCCCTCCGTGCCGCGCCCCCCTAGGACCGCCCCCT
CCCCAAAAGGCTTTTGGATTTGTGCATAGCTGGAGTGAAGGCGGAGGGAGCCTGCTACAGGCCG
CAGCCCAACCCCTGTTTTTTATTCAGATTTCCCCTCCTTTACCCTTTCCCTTTTTTTTTTTTTT
TTTTTTTTTAAAGAAACCTTTTTTAAACTATTTCTAGGTTTGTGAATGTGAAGCCCCAGGCCGC
AGGGGGCAAGGGGCCAGGTGCCCCCCACCAGCTGAGAACAAAGTGTCTATCTGGGTGTGGGCCC
CTGGCCGCCTCCCTCCAGCCCTGGAGAGGAGGGCAGGGCTGCGGGGAGGCCAGGCCGAGCCCCT
GGAACCATCCCGTCCTGTATCATATGTAAATACTGTGAGGTGATGTGCCCACCCCTCTCTAAGA
CCCCTCGGGGGTGAGGGGCTCCCCCCTCCCCTGTTTCTGTCCCCTCAGACACCGTTACTGTAAG
CTTGCAGGCCTCAGCTGTGGCCACGGCAGGCCCGCTCTCTCAGGCCCTCAGGGTCAAGGCCTTG
GTTGGACCTGCCCACTCCAAAAACCCAGTGTGGGGGCAAAGGGCGTGGGAAGAGCAGGGCTTGC
CCAGCGACACTGCTGGACAGGAATTAACTCTCCAAAGGTCTCCCCTGCTCCCTACCTAGGTTGG
GGCTTCATGGTTTCTGCTCAGTCTGTCCCCCTTCCCCCTCGACCCCCGCAATGAGTGGGCACCA
GGGGACGCTCTGGCGAGGGCAGACCCCAGGGGAAAGCAAAGGGCGTCTCAG

hide sequence

RefSeq Acc Id:

XM_047428872 ⟹ XP_047284828

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	120,341,330 - 120,369,164 (-)	NCBI

RefSeq Acc Id:

XM_054372081 ⟹ XP_054228056

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,326,839 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

XM_054372082 ⟹ XP_054228057

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,328,507 - 120,351,868 (-)	NCBI

RefSeq Acc Id:

XM_054372083 ⟹ XP_054228058

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,328,507 - 120,355,132 (-)	NCBI

RefSeq Acc Id:

XM_054372084 ⟹ XP_054228059

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,328,507 - 120,356,341 (-)	NCBI

RefSeq Acc Id:

XM_054372085 ⟹ XP_054228060

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,328,507 - 120,348,912 (-)	NCBI

RefSeq Acc Id:

XM_054372086 ⟹ XP_054228061

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,328,507 - 120,348,648 (-)	NCBI

RefSeq Acc Id:

XM_054372087 ⟹ XP_054228062

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,328,507 - 120,348,726 (-)	NCBI

RefSeq Acc Id:

XM_054372088 ⟹ XP_054228063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	120,328,507 - 120,348,546 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001401414	(Get FASTA)	NCBI Sequence Viewer
	NP_001401415	(Get FASTA)	NCBI Sequence Viewer
	NP_001401416	(Get FASTA)	NCBI Sequence Viewer
	NP_001401417	(Get FASTA)	NCBI Sequence Viewer
	NP_001401418	(Get FASTA)	NCBI Sequence Viewer
	NP_001401419	(Get FASTA)	NCBI Sequence Viewer
	NP_001401420	(Get FASTA)	NCBI Sequence Viewer
	NP_001401421	(Get FASTA)	NCBI Sequence Viewer
	NP_001401422	(Get FASTA)	NCBI Sequence Viewer
	NP_001401423	(Get FASTA)	NCBI Sequence Viewer
	NP_001401424	(Get FASTA)	NCBI Sequence Viewer
	NP_001401425	(Get FASTA)	NCBI Sequence Viewer
	NP_001401426	(Get FASTA)	NCBI Sequence Viewer
	NP_001401427	(Get FASTA)	NCBI Sequence Viewer
	NP_002433	(Get FASTA)	NCBI Sequence Viewer
	XP_006719467	(Get FASTA)	NCBI Sequence Viewer
	XP_011536663	(Get FASTA)	NCBI Sequence Viewer
	XP_011536666	(Get FASTA)	NCBI Sequence Viewer
	XP_011536668	(Get FASTA)	NCBI Sequence Viewer
	XP_011536670	(Get FASTA)	NCBI Sequence Viewer
	XP_011536672	(Get FASTA)	NCBI Sequence Viewer
	XP_011536673	(Get FASTA)	NCBI Sequence Viewer
	XP_047284828	(Get FASTA)	NCBI Sequence Viewer
	XP_054228056	(Get FASTA)	NCBI Sequence Viewer
	XP_054228057	(Get FASTA)	NCBI Sequence Viewer
	XP_054228058	(Get FASTA)	NCBI Sequence Viewer
	XP_054228059	(Get FASTA)	NCBI Sequence Viewer
	XP_054228060	(Get FASTA)	NCBI Sequence Viewer
	XP_054228061	(Get FASTA)	NCBI Sequence Viewer
	XP_054228062	(Get FASTA)	NCBI Sequence Viewer
	XP_054228063	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB95636	(Get FASTA)	NCBI Sequence Viewer
	BAA33962	(Get FASTA)	NCBI Sequence Viewer
	BAB69767	(Get FASTA)	NCBI Sequence Viewer
	BAB69768	(Get FASTA)	NCBI Sequence Viewer
	BAB69769	(Get FASTA)	NCBI Sequence Viewer
	BAB70469	(Get FASTA)	NCBI Sequence Viewer
	BAG51178	(Get FASTA)	NCBI Sequence Viewer
	CBF67590	(Get FASTA)	NCBI Sequence Viewer
	CBU92464	(Get FASTA)	NCBI Sequence Viewer
	EAW98185	(Get FASTA)	NCBI Sequence Viewer
	EAW98186	(Get FASTA)	NCBI Sequence Viewer
	EAW98187	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000257552
	ENSP00000257552.2
	ENSP00000446710
	ENSP00000446710.1
GenBank Protein	O43347	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_002433 ⟸ NM_002442
- Peptide Label:	isoform a
- UniProtKB:	Q96PU2 (UniProtKB/Swiss-Prot), Q96PU1 (UniProtKB/Swiss-Prot), Q96PU0 (UniProtKB/Swiss-Prot), Q96PU3 (UniProtKB/Swiss-Prot), O43347 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFG FVTFMDQAGVDKVLAQSRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQY FEQFGKVDDAMLMFDKTTNRHRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSP TGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYTYQFPEFRVERTPLPSA PVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELY GAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH hide sequence

RefSeq Acc Id:	XP_006719467 ⟸ XM_006719404
- Peptide Label:	isoform X5
- UniProtKB:	B3KN16 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLMFDKTTNRHRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRV MPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIP LTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVS SYISAASPAPSTGFGHSLGGPLIATAFTNGYH hide sequence

RefSeq Acc Id:	XP_011536663 ⟸ XM_011538361
- Peptide Label:	isoform X1
- UniProtKB:	Q96PU2 (UniProtKB/Swiss-Prot), Q96PU1 (UniProtKB/Swiss-Prot), Q96PU0 (UniProtKB/Swiss-Prot), Q96PU3 (UniProtKB/Swiss-Prot), O43347 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFG FVTFMDQAGVDKVLAQSRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQY FEQFGKVDDAMLMFDKTTNRHRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSP TGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYTYQFPEFRVERTPLPSA PVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELY GAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH hide sequence

RefSeq Acc Id:

XP_011536668 ⟸ XM_011538366

- Peptide Label:

isoform X3

- Sequence:

show sequence

MVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESEDIVEKVC
EIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRS
YTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAP
PPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTN
GYH

hide sequence

RefSeq Acc Id:

XP_011536666 ⟸ XM_011538364

- Peptide Label:

isoform X2

- Sequence:

show sequence

MEQMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESEDIVE
KVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYA
SRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWT
MAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATA
FTNGYH

hide sequence

RefSeq Acc Id:	XP_011536673 ⟸ XM_011538371
- Peptide Label:	isoform X5
- UniProtKB:	B3KN16 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLMFDKTTNRHRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRV MPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIP LTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVS SYISAASPAPSTGFGHSLGGPLIATAFTNGYH hide sequence

RefSeq Acc Id:	XP_011536670 ⟸ XM_011538368
- Peptide Label:	isoform X5
- UniProtKB:	B3KN16 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLMFDKTTNRHRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRV MPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIP LTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVS SYISAASPAPSTGFGHSLGGPLIATAFTNGYH hide sequence

RefSeq Acc Id:	XP_011536672 ⟸ XM_011538370
- Peptide Label:	isoform X5
- UniProtKB:	B3KN16 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLMFDKTTNRHRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRV MPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIP LTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVS SYISAASPAPSTGFGHSLGGPLIATAFTNGYH hide sequence

Ensembl Acc Id:

ENSP00000257552 ⟸ ENST00000257552

Ensembl Acc Id:

ENSP00000446710 ⟸ ENST00000546985

RefSeq Acc Id:	XP_047284828 ⟸ XM_047428872
- Peptide Label:	isoform X4

RefSeq Acc Id:	NP_001401426 ⟸ NM_001414497
- Peptide Label:	isoform l

RefSeq Acc Id:	NP_001401425 ⟸ NM_001414496
- Peptide Label:	isoform k

RefSeq Acc Id:	NP_001401424 ⟸ NM_001414495
- Peptide Label:	isoform j

RefSeq Acc Id:	NP_001401414 ⟸ NM_001414485
- Peptide Label:	isoform b

RefSeq Acc Id:	NP_001401417 ⟸ NM_001414488
- Peptide Label:	isoform e

RefSeq Acc Id:	NP_001401416 ⟸ NM_001414487
- Peptide Label:	isoform d

RefSeq Acc Id:	NP_001401415 ⟸ NM_001414486
- Peptide Label:	isoform c

RefSeq Acc Id:	NP_001401427 ⟸ NM_001414498
- Peptide Label:	isoform l

RefSeq Acc Id:	NP_001401423 ⟸ NM_001414494
- Peptide Label:	isoform j

RefSeq Acc Id:	NP_001401422 ⟸ NM_001414493
- Peptide Label:	isoform j

RefSeq Acc Id:	NP_001401418 ⟸ NM_001414489
- Peptide Label:	isoform f

RefSeq Acc Id:	NP_001401421 ⟸ NM_001414492
- Peptide Label:	isoform i

RefSeq Acc Id:	NP_001401420 ⟸ NM_001414491
- Peptide Label:	isoform h

RefSeq Acc Id:	NP_001401419 ⟸ NM_001414490
- Peptide Label:	isoform g

RefSeq Acc Id:	XP_054228056 ⟸ XM_054372081
- Peptide Label:	isoform X1
- UniProtKB:	Q96PU2 (UniProtKB/Swiss-Prot), Q96PU1 (UniProtKB/Swiss-Prot), Q96PU0 (UniProtKB/Swiss-Prot), O43347 (UniProtKB/Swiss-Prot), Q96PU3 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054228059 ⟸ XM_054372084
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054228058 ⟸ XM_054372083
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054228057 ⟸ XM_054372082
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054228060 ⟸ XM_054372085
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054228062 ⟸ XM_054372087
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054228061 ⟸ XM_054372086
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054228063 ⟸ XM_054372088
- Peptide Label:	isoform X5

Protein Domains

RRM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O43347-F1-model_v2	AlphaFold	O43347	1-362	view protein structure

Promoters

RGD ID:

6790270

Promoter ID:

HG_KWN:16823

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

NM_002442

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	119,291,411 - 119,291,911 (-)	MPROMDB

RGD ID:

7225599

Promoter ID:

EPDNEW_H18545

Type:

initiation region

Name:

MSI1_1

Description:

musashi RNA binding protein 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	12	120,369,164 - 120,369,224	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:7330	AgrOrtholog
COSMIC	MSI1	COSMIC
Ensembl Genes	ENSG00000135097	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000257552	ENTREZGENE
	ENST00000257552.7	UniProtKB/Swiss-Prot
	ENST00000546985	ENTREZGENE
	ENST00000546985.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.70.330	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000135097	GTEx
HGNC ID	HGNC:7330	ENTREZGENE
Human Proteome Map	MSI1	Human Proteome Map
InterPro	MSI_RRM2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Nucleotide-bd_a/b_plait_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RBD_domain_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RRM_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:4440	UniProtKB/Swiss-Prot
NCBI Gene	4440	ENTREZGENE
OMIM	603328	OMIM
PANTHER	RNA-BINDING PROTEIN MUSASHI HOMOLOG 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNA-BINDING PROTEIN MUSASHI HOMOLOG RBP6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RRM_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA31137	PharmGKB
PROSITE	RRM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	RRM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF54928	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B3KN16	ENTREZGENE, UniProtKB/TrEMBL
	H0YHB7_HUMAN	UniProtKB/TrEMBL
	MSI1H_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q96PU0	ENTREZGENE
	Q96PU1	ENTREZGENE
	Q96PU2	ENTREZGENE
	Q96PU3	ENTREZGENE
UniProt Secondary	Q96PU0	UniProtKB/Swiss-Prot
	Q96PU1	UniProtKB/Swiss-Prot
	Q96PU2	UniProtKB/Swiss-Prot
	Q96PU3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-10	MSI1	musashi RNA binding protein 1	MSI1	musashi RNA-binding protein 1	Symbol and/or name change	5135510	APPROVED
2013-01-02	MSI1	musashi RNA-binding protein 1	MSI1	musashi homolog 1 (Drosophila)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)