TFIP11 (tuftelin interacting protein 11)

Gene: TFIP11 (tuftelin interacting protein 11) Homo sapiens

Analyze

Symbol:

TFIP11

Name:

tuftelin interacting protein 11

RGD ID:

1322916

HGNC Page

HGNC:17165

Description:

Predicted to enable nucleic acid binding activity. Involved in negative regulation of protein-containing complex assembly and spliceosomal complex disassembly. Located in chromosome, telomeric region; nuclear speck; and nucleolus. Part of U2-type post-mRNA release spliceosomal complex and catalytic step 2 spliceosome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

bK445C9.6; FLJ22086; hNtr1; NTR1; septin and tuftelin-interacting protein 1; Spp382; STIP; STIP-1; TIP39; tuftelin-interacting protein 11

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):	Tfip11 (tuftelin interacting protein 11)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tfip11 (tuftelin interacting protein 11)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tfip11 (tuftelin interacting protein 11)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TFIP11 (tuftelin interacting protein 11)	NCBI	Ortholog
Canis lupus familiaris (dog):	TFIP11 (tuftelin interacting protein 11)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tfip11 (tuftelin interacting protein 11)	NCBI	Ortholog
Sus scrofa (pig):	TFIP11 (tuftelin interacting protein 11)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TFIP11 (tuftelin interacting protein 11)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tfip11 (tuftelin interacting protein 11)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Rpl31l9 (ribosomal protein L31 like 9)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tfip11 (tuftelin interacting protein 11)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tfip11 (tuftelin interacting protein 11)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tfip11 (tuftelin interacting protein 11)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	SPP382	Alliance	DIOPT (InParanoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	sip1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	stip-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	tfip11	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tfip11.L	Alliance	DIOPT (Xenbase)

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	22	26,491,240 - 26,512,473 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	26,491,225 - 26,512,505 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	26,887,206 - 26,908,439 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	25,217,893 - 25,238,437 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	25,212,450 - 25,232,991	NCBI
Celera	22	10,691,755 - 10,712,292 (-)	NCBI		Celera
Cytogenetic Map	22	q12.1	NCBI
HuRef	22	9,835,458 - 9,855,829 (-)	NCBI		HuRef
CHM1_1	22	26,847,289 - 26,867,694 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	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

cataract 23 (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-methylcholine (EXP)

4,4'-sulfonyldiphenol (ISO)

acrolein (EXP)

alpha-pinene (EXP)

bisphenol A (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

cocaine (ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

coumarin (EXP)

CU-O LINKAGE (EXP)

diazinon (EXP)

disulfiram (EXP)

epoxiconazole (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

maneb (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

ozone (EXP)

paraquat (ISO)

perfluorooctane-1-sulfonic acid (ISO)

rotenone (ISO)

thapsigargin (ISO)

triptonide (ISO)

tungsten (ISO)

valproic acid (EXP)

vinclozolin (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

biomineral tissue development (IEA)

mRNA processing (IEA)

mRNA splicing, via spliceosome (IC)

negative regulation of double-strand break repair via nonhomologous end joining (ISS)

negative regulation of protein-containing complex assembly (IDA)

protection from non-homologous end joining at telomere (IC)

RNA processing (IC)

RNA splicing (IEA)

spliceosomal complex disassembly (IBA,IEA,IMP)

Cellular Component

catalytic step 2 spliceosome (IDA)

chromosome, telomeric region (IDA)

cytoplasm (IEA)

extracellular matrix (IEA)

nuclear speck (IDA)

nucleolus (IDA)

nucleoplasm (TAS)

nucleus (IEA)

spliceosomal complex (IDA,IEA)

U2-type post-mRNA release spliceosomal complex (IBA,IDA,IEA)

Molecular Function

nucleic acid binding (IEA)

protein binding (IPI)

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:10591208	PMID:10806191	PMID:11042152	PMID:11076863	PMID:11230166	PMID:11256614	PMID:11991638	PMID:12477932	PMID:12529303	PMID:12887888	PMID:15302935	PMID:15461802
PMID:15489334	PMID:15489336	PMID:15868102	PMID:16381901	PMID:16674698	PMID:17043677	PMID:17081983	PMID:17389648	PMID:18367544	PMID:18781068	PMID:19086053	PMID:19103666
PMID:19122807	PMID:19857462	PMID:20360068	PMID:20398908	PMID:20811636	PMID:21081503	PMID:21516116	PMID:21653829	PMID:21873635	PMID:21988832	PMID:22412018	PMID:22658674
PMID:22939629	PMID:23537643	PMID:23752268	PMID:23790503	PMID:24304693	PMID:24457600	PMID:24722188	PMID:25373699	PMID:25416956	PMID:25910212	PMID:25921289	PMID:26186194
PMID:26344197	PMID:26354852	PMID:26460617	PMID:26496610	PMID:26638075	PMID:26871637	PMID:26949251	PMID:27107012	PMID:27229929	PMID:27609421	PMID:27684187	PMID:27758712
PMID:27798625	PMID:28077445	PMID:28514442	PMID:28515276	PMID:28977666	PMID:29180619	PMID:29298432	PMID:29467282	PMID:29511261	PMID:29773831	PMID:29802200	PMID:29884807
PMID:29892012	PMID:30021884	PMID:30415952	PMID:30463901	PMID:30585729	PMID:30804502	PMID:30890647	PMID:31076518	PMID:31091453	PMID:31177093	PMID:31365120	PMID:31413325
PMID:31515488	PMID:31527615	PMID:31553912	PMID:31586073	PMID:32296183	PMID:32433965	PMID:32807901	PMID:33916271	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34133714
PMID:34244791	PMID:34672954	PMID:34732716	PMID:34789764	PMID:34917906	PMID:35013218	PMID:35140242	PMID:35271311	PMID:35439318	PMID:35705031	PMID:35831314	PMID:35850772
PMID:35914814	PMID:35944360	PMID:36114006	PMID:36215168	PMID:36244648	PMID:36373674	PMID:36424410	PMID:36774506	PMID:36949045	PMID:37506885	PMID:37689310	PMID:37827155
PMID:38113892	PMID:38280479	PMID:38341452

Genomics

Comparative Map Data

TFIP11
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	26,491,225 - 26,512,505 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	26,887,206 - 26,908,439 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	25,217,893 - 25,238,437 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	25,212,450 - 25,232,991	NCBI
Celera	22	10,691,755 - 10,712,292 (-)	NCBI		Celera
Cytogenetic Map	22	q12.1	NCBI
HuRef	22	9,835,458 - 9,855,829 (-)	NCBI		HuRef
CHM1_1	22	26,847,289 - 26,867,694 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI		T2T-CHM13v2.0

Tfip11
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	112,474,235 - 112,485,939 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	112,474,224 - 112,485,939 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	112,326,369 - 112,338,073 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	112,326,358 - 112,338,073 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	112,755,389 - 112,767,093 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	112,566,672 - 112,578,376 (+)	NCBI		MGSCv36	mm8
Celera	5	109,446,361 - 109,458,066 (+)	NCBI		Celera
Cytogenetic Map	5	F	NCBI
cM Map	5	54.69	NCBI

Tfip11
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	49,960,025 - 49,972,257 (-)	NCBI		GRCr8
mRatBN7.2	12	44,299,619 - 44,311,851 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	44,299,622 - 44,311,855 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	45,468,598 - 45,480,833 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	46,078,874 - 46,091,106 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	45,139,412 - 45,151,644 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	50,320,820 - 50,333,052 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	50,320,821 - 50,333,052 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	52,077,898 - 52,090,133 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	14,307,576 - 14,319,808 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	14,312,401 - 14,324,633 (+)	NCBI
Celera	12	45,882,783 - 45,895,008 (-)	NCBI		Celera
Cytogenetic Map	12	q16	NCBI

Tfip11
(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	1,083,816 - 1,097,233 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955455	1,083,816 - 1,097,233 (-)	NCBI	ChiLan1.0	ChiLan1.0

TFIP11
(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	23	36,497,448 - 36,517,994 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	39,195,935 - 39,216,439 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	7,553,781 - 7,574,285 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	25,276,657 - 25,296,310 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	25,276,666 - 25,296,310 (-)	Ensembl	panpan1.1		panPan2

TFIP11
(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	20,177,896 - 20,192,466 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	20,177,904 - 20,192,469 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	20,041,657 - 20,056,399 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	20,541,190 - 20,555,750 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	20,541,185 - 20,555,749 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	20,257,931 - 20,272,442 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	20,513,694 - 20,528,253 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	20,583,519 - 20,598,276 (-)	NCBI		UU_Cfam_GSD_1.0

Tfip11
(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	114,742,175 - 114,759,027 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936657	1,112,682 - 1,128,530 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936657	1,112,662 - 1,128,510 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TFIP11
(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	44,096,264 - 44,113,682 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	44,097,026 - 44,113,760 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	46,976,808 - 46,992,501 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TFIP11
(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	19	9,396,221 - 9,416,478 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	9,396,298 - 9,416,476 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	116,688,441 - 116,708,662 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tfip11
(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	3,041,769 - 3,055,726 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624747	3,041,769 - 3,055,751 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TFIP11
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	copy number gain	See cases [RCV000050768]	Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	copy number loss	See cases [RCV000052869]	Chr22:26221273..29477543 [GRCh38] Chr22:26617239..29873532 [GRCh37] Chr22:24947239..28203532 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	copy number loss	See cases [RCV000134954]	Chr22:25003092..28634004 [GRCh38] Chr22:25399059..29029992 [GRCh37] Chr22:23729059..27359992 [NCBI36] Chr22:22q11.23-12.1	likely pathogenic
GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	copy number loss	See cases [RCV000136530]	Chr22:25685148..28217405 [GRCh38] Chr22:26081115..28613393 [GRCh37] Chr22:24411115..26943393 [NCBI36] Chr22:22q12.1	uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	copy number gain	See cases [RCV000138172]	Chr22:23279231..36247369 [GRCh38] Chr22:23621418..36643415 [GRCh37] Chr22:21951418..34973361 [NCBI36] Chr22:22q11.23-12.3	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	copy number gain	See cases [RCV000137926]	Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	copy number loss	See cases [RCV000143415]	Chr22:26451042..31451926 [GRCh38] Chr22:26847008..31847912 [GRCh37] Chr22:25177008..30177912 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	copy number gain	See cases [RCV000240348]	Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	copy number gain	See cases [RCV000511098]	Chr22:23637907..36614412 [GRCh37] Chr22:22q11.23-12.3	pathogenic
NM_012143.4(TFIP11):c.268G>T (p.Ala90Ser)	single nucleotide variant	Inborn genetic diseases [RCV003283655]	Chr22:26506870 [GRCh38] Chr22:26902836 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1711C>T (p.Arg571Cys)	single nucleotide variant	Inborn genetic diseases [RCV003292993]	Chr22:26496211 [GRCh38] Chr22:26892177 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1142A>G (p.Glu381Gly)	single nucleotide variant	Inborn genetic diseases [RCV003256293]	Chr22:26499291 [GRCh38] Chr22:26895257 [GRCh37] Chr22:22q12.1	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	copy number gain	not provided [RCV000684530]	Chr22:22460754..35198232 [GRCh37] Chr22:22q11.22-12.3	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.1(chr22:26337910-28489947)x1	copy number loss	not provided [RCV001007180]	Chr22:26337910..28489947 [GRCh37] Chr22:22q12.1	pathogenic
NC_000022.10:g.(?_26142492)_(27026451_?)del	deletion	Cataract 23 [RCV003107531]	Chr22:26142492..27026451 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1508C>T (p.Pro503Leu)	single nucleotide variant	Inborn genetic diseases [RCV003251213]	Chr22:26496818 [GRCh38] Chr22:26892784 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.23G>A (p.Arg8Gln)	single nucleotide variant	not provided [RCV000973266]	Chr22:26510250 [GRCh38] Chr22:26906216 [GRCh37] Chr22:22q12.1	benign\|likely benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	copy number gain	not provided [RCV001007163]	Chr22:16888899..27657507 [GRCh37] Chr22:22q11.1-12.1	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	copy number loss	not provided [RCV002472563]	Chr22:26614429..29847680 [GRCh37] Chr22:22q12.1-12.2	pathogenic
NM_012143.4(TFIP11):c.269C>T (p.Ala90Val)	single nucleotide variant	Inborn genetic diseases [RCV002945736]	Chr22:26506869 [GRCh38] Chr22:26902835 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.615C>G (p.Phe205Leu)	single nucleotide variant	Inborn genetic diseases [RCV002901994]	Chr22:26503699 [GRCh38] Chr22:26899665 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.584C>G (p.Ser195Cys)	single nucleotide variant	Inborn genetic diseases [RCV002906106]	Chr22:26503730 [GRCh38] Chr22:26899696 [GRCh37] Chr22:22q12.1	uncertain significance
NM_001013694.3(SRRD):c.878C>T (p.Thr293Ile)	single nucleotide variant	Inborn genetic diseases [RCV002974737]	Chr22:26491530 [GRCh38] Chr22:26887496 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.2291T>C (p.Val764Ala)	single nucleotide variant	Inborn genetic diseases [RCV002758872]	Chr22:26492236 [GRCh38] Chr22:26888202 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1312G>A (p.Glu438Lys)	single nucleotide variant	Inborn genetic diseases [RCV002870131]	Chr22:26499121 [GRCh38] Chr22:26895087 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.401G>A (p.Gly134Glu)	single nucleotide variant	Inborn genetic diseases [RCV002759929]	Chr22:26506422 [GRCh38] Chr22:26902388 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1894A>G (p.Met632Val)	single nucleotide variant	Inborn genetic diseases [RCV002987429]	Chr22:26494895 [GRCh38] Chr22:26890861 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1469G>A (p.Arg490Gln)	single nucleotide variant	Inborn genetic diseases [RCV002762956]	Chr22:26496857 [GRCh38] Chr22:26892823 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1205G>A (p.Arg402His)	single nucleotide variant	Inborn genetic diseases [RCV002892720]	Chr22:26499228 [GRCh38] Chr22:26895194 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.2349G>T (p.Glu783Asp)	single nucleotide variant	Inborn genetic diseases [RCV002891851]	Chr22:26492178 [GRCh38] Chr22:26888144 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.487G>A (p.Val163Ile)	single nucleotide variant	Inborn genetic diseases [RCV002961489]	Chr22:26506336 [GRCh38] Chr22:26902302 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.2248G>A (p.Glu750Lys)	single nucleotide variant	Inborn genetic diseases [RCV002878991]	Chr22:26492279 [GRCh38] Chr22:26888245 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1933A>G (p.Ile645Val)	single nucleotide variant	Inborn genetic diseases [RCV002920249]	Chr22:26494856 [GRCh38] Chr22:26890822 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1153C>T (p.Arg385Trp)	single nucleotide variant	Inborn genetic diseases [RCV002965567]	Chr22:26499280 [GRCh38] Chr22:26895246 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1204C>T (p.Arg402Cys)	single nucleotide variant	Inborn genetic diseases [RCV003010785]	Chr22:26499229 [GRCh38] Chr22:26895195 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1850G>A (p.Gly617Glu)	single nucleotide variant	Inborn genetic diseases [RCV003176126]	Chr22:26494939 [GRCh38] Chr22:26890905 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.2288G>C (p.Gly763Ala)	single nucleotide variant	Inborn genetic diseases [RCV003204629]	Chr22:26492239 [GRCh38] Chr22:26888205 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.83A>G (p.Asp28Gly)	single nucleotide variant	Inborn genetic diseases [RCV003179898]	Chr22:26510190 [GRCh38] Chr22:26906156 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1346C>T (p.Thr449Ile)	single nucleotide variant	Inborn genetic diseases [RCV003288076]	Chr22:26498959 [GRCh38] Chr22:26894925 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1970A>T (p.His657Leu)	single nucleotide variant	Inborn genetic diseases [RCV003373391]	Chr22:26494819 [GRCh38] Chr22:26890785 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.2183G>A (p.Arg728Gln)	single nucleotide variant	Inborn genetic diseases [RCV003370645]	Chr22:26492344 [GRCh38] Chr22:26888310 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1330G>A (p.Asp444Asn)	single nucleotide variant	Inborn genetic diseases [RCV003383909]	Chr22:26498975 [GRCh38] Chr22:26894941 [GRCh37] Chr22:22q12.1	uncertain significance
NM_012143.4(TFIP11):c.1347C>T (p.Thr449=)	single nucleotide variant	not provided [RCV003427172]	Chr22:26498958 [GRCh38] Chr22:26894924 [GRCh37] Chr22:22q12.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3014
Count of miRNA genes:	993
Interacting mature miRNAs:	1198
Transcripts:	ENST00000405938, ENST00000407148, ENST00000407431, ENST00000407690, ENST00000418876, ENST00000420242, ENST00000440258, ENST00000450493, ENST00000455080, ENST00000464449, ENST00000472918, ENST00000479489, ENST00000481357, ENST00000492137, ENST00000493698, ENST00000496523
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.

Markers in Region

STS-N30363

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	26,887,699 - 26,887,836	UniSTS	GRCh37
Build 36	22	25,217,699 - 25,217,836	RGD	NCBI36
Celera	22	10,691,561 - 10,691,698	RGD
Cytogenetic Map	22	q12.1	UniSTS
HuRef	22	9,835,264 - 9,835,401	UniSTS
GeneMap99-GB4 RH Map	22	75.21	UniSTS
NCBI RH Map	22	104.5	UniSTS

A007C16

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	26,887,919 - 26,888,182	UniSTS	GRCh37
Build 36	22	25,217,919 - 25,218,182	RGD	NCBI36
Celera	22	10,691,781 - 10,692,044	RGD
Cytogenetic Map	22	q12.1	UniSTS
HuRef	22	9,835,484 - 9,835,747	UniSTS
GeneMap99-GB4 RH Map	22	64.62	UniSTS

RH102578

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	26,890,198 - 26,890,369	UniSTS	GRCh37
Build 36	22	25,220,198 - 25,220,369	RGD	NCBI36
Celera	22	10,694,060 - 10,694,231	RGD
Cytogenetic Map	22	q12.1	UniSTS
HuRef	22	9,837,763 - 9,837,934	UniSTS
GeneMap99-GB4 RH Map	22	75.21	UniSTS

RH66366

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	26,887,364 - 26,887,538	UniSTS	GRCh37
Build 36	22	25,217,364 - 25,217,538	RGD	NCBI36
Celera	22	10,691,226 - 10,691,400	RGD
Cytogenetic Map	22	q12.1	UniSTS
HuRef	22	9,834,929 - 9,835,103	UniSTS
GeneMap99-GB4 RH Map	22	75.11	UniSTS
NCBI RH Map	22	91.4	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1913

1788

1386

347

1713

220

4109

1532

1970

277

1357

1554

143

1104

2571

Low

526

1202

339

276

238

244

248

664

1764

142

103

100

217

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001008697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346858	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_012143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452194	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF070662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI468631	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298303	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL080147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX354919	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CT841511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC411331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z95115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z99714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000405938 ⟹ ENSP00000384297

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,491,986 - 26,512,499 (-)	Ensembl

RefSeq Acc Id:

ENST00000407148 ⟹ ENSP00000385861

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,491,927 - 26,512,496 (-)	Ensembl

RefSeq Acc Id:

ENST00000407431 ⟹ ENSP00000383892

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,491,927 - 26,512,377 (-)	Ensembl

RefSeq Acc Id:

ENST00000407690 ⟹ ENSP00000384421

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,491,240 - 26,512,473 (-)	Ensembl

RefSeq Acc Id:

ENST00000418876 ⟹ ENSP00000404973

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,506,874 - 26,512,478 (-)	Ensembl

RefSeq Acc Id:

ENST00000420242 ⟹ ENSP00000397475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,506,878 - 26,512,496 (-)	Ensembl

RefSeq Acc Id:

ENST00000440258 ⟹ ENSP00000411840

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,510,145 - 26,512,489 (-)	Ensembl

RefSeq Acc Id:

ENST00000450493 ⟹ ENSP00000394266

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,499,414 - 26,506,332 (-)	Ensembl

RefSeq Acc Id:

ENST00000455080 ⟹ ENSP00000399347

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,506,774 - 26,512,460 (-)	Ensembl

RefSeq Acc Id:

ENST00000464449

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,511,689 - 26,512,495 (-)	Ensembl

RefSeq Acc Id:

ENST00000472918

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,506,738 - 26,512,478 (-)	Ensembl

RefSeq Acc Id:

ENST00000479489

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,506,673 - 26,512,505 (-)	Ensembl

RefSeq Acc Id:

ENST00000481357

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,498,703 - 26,499,391 (-)	Ensembl

RefSeq Acc Id:

ENST00000492137

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,491,927 - 26,494,619 (-)	Ensembl

RefSeq Acc Id:

ENST00000493698

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,502,036 - 26,506,712 (-)	Ensembl

RefSeq Acc Id:

ENST00000496523

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,499,537 - 26,506,105 (-)	Ensembl

RefSeq Acc Id:

ENST00000619735 ⟹ ENSP00000480171

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	26,491,225 - 26,510,707 (-)	Ensembl

RefSeq Acc Id:

NM_001008697 ⟹ NP_001008697

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI
GRCh37	22	26,887,893 - 26,908,462 (-)	NCBI
Build 36	22	25,217,893 - 25,238,437 (-)	NCBI Archive
Celera	22	10,691,755 - 10,712,292 (-)	RGD
HuRef	22	9,835,458 - 9,855,829 (-)	RGD
CHM1_1	22	26,847,289 - 26,867,694 (-)	NCBI
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI

Sequence:

show sequence

GCTTCCGGGTTCTGGTGTAGGAGCGGCGTCTTCTCGCGCGGATGGTGAAGCTGAATTTGGTACG
CTGGACCCTCGGACAGACAGCAAGAGAGAGACAAGCCCGAGGCCTGACTTCTAGCACTCCTGAG
TTTGAGCCCTATGAGCAGTGGAACCTAGGTTCTTCAGCTTTGGAACTTGACTGGCTCTCCTTGC
TCCTCAGCCTGCAGACAGCCTATTGTGGGACCTTTTGATCGTGACCACCAAGGATCCAGATATA
ATTCTTTCCTCAGTAATAGAAAAAAGAATCTGGGATCTAAGAAGATACCTACTCATTTTCTAAG
TGACTGGCCATGTCATTGTCCCACTTATACCGGGATGGGGAAGGCCGCATTGATGATGATGATG
ACGAGCGGGAGAACTTTGAGATCACTGACTGGGATCTCCAGAATGAGTTCAACCCCAACCGACA
GCGCCACTGGCAGACCAAGGAAGAAGCCACCTACGGGGTGTGGGCAGAGCGAGACTCGGATGAT
GAGAGGCCCAGCTTTGGAGGCAAACGGGCCCGTGACTACTCTGCGCCAGTCAACTTCATCAGCG
CAGGGCTCAAGAAAGGGGCAGCGGAGGAGGCAGAGTTGGAAGATTCTGATGACGAAGAGAAACC
TGTTAAGCAGGACGACTTTCCTAAGGATTTTGGACCAAGGAAGCTAAAAACGGGTGGCAATTTT
AAGCCCAGCCAGAAAGGTTTTGCAGGAGGAACCAAATCTTTCATGGACTTCGGCAGCTGGGAAA
GACACACAAAAGGAATTGGACAGAAGCTTCTTCAGAAGATGGGCTACGTCCCTGGACGGGGCCT
CGGGAAGAATGCACAAGGTATCATTAACCCAATTGAAGCCAAGCAGAGAAAGGGAAAAGGTGCT
GTGGGGGCTTATGGATCCGAGCGCACCACTCAGTCCATGCAAGACTTCCCTGTGGTTGACTCAG
AGGAAGAAGCTGAAGAGGAGTTTCAGAAGGAGCTGAGCCAGTGGAGGAAAGACCCAAGTGGAAG
CAAGAAGAAGCCCAAATACTCTTACAAGACCGTGGAAGAGTTGAAGGCCAAGGGCAGGATTAGC
AAGAAGCTCACTGCTCCCCAGAAGGAACTTTCTCAAGTCAAGGTCATAGACATGACAGGCCGGG
AGCAGAAGGTCTACTACAGCTACAGTCAGATCAGCCACAAGCACAACGTTCCCGATGATGGGCT
GCCGCTACAGTCCCAACAGCTGCCACAGTCTGGCAAAGAGGCCAAGGCCCCCGGCTTCGCGCTG
CCCGAGCTGGAGCACAACCTGCAGCTGCTCATCGACCTCACGGAGCAGGAGATCATCCAGAATG
ACCGGCAGCTACAGTATGAGCGGGACATGGTGGTCAACCTCTTCCACGAGCTGGAGAAGATGAC
CGAGGTCCTGGACCACGAGGAGCGGGTCATCTCGAACCTCAGCAAGGTCCTGGAGATGGTGGAG
GAGTGCGAGCGGCGGATGCAGCCCGACTGCAGCAACCCCCTCACCCTGGACGAGTGTGCCCGCA
TCTTCGAAACCCTGCAGGACAAGTACTATGAGGAGTACAGGATGTCCGACCGTGTGGACCTTGC
TGTGGCCATCGTCTATCCACTCATGAAGGAGTACTTCAAGGAGTGGGATCCCCTCAAAGACTGC
ACTTATGGCACCGAGATCATCTCTAAGTGGAAAAGCCTCCTAGAGAATGACCAGCTCTTGTCCC
ATGGCGGACAGGACCTCTCAGCAGATGCCTTTCACAGGTTGATATGGGAAGTCTGGATGCCTTT
TGTTCGAAATATTGTCACCCAGTGGCAGCCAAGGAACTGTGACCCGATGGTGGACTTTTTGGAT
AGTTGGGTGCACATTATTCCTGTGTGGATCTTAGATAACATACTGGACCAACTCATCTTCCCCA
AGCTGCAAAAGGAGGTGGAAAACTGGAACCCGCTCACAGACACTGTTCCCATCCACTCTTGGAT
CCACCCATGGCTGCCCCTTATGCAGGCACGGCTGGAGCCACTCTATTCCCCCATCCGTAGTAAG
CTGTCCAGCGCCCTGCAGAAGTGGCACCCCAGCGACTCCTCTGCCAAGCTCATCCTCCAGCCCT
GGAAGGATGTCTTCACTCCTGGCTCCTGGGAAGCATTCATGGTCAAAAACATAGTGCCCAAGCT
GGGGATGTGTCTTGGTGAGCTAGTCATTAACCCCCACCAGCAGCACATGGATGCATTCTATTGG
GTGATTGACTGGGAAGGGATGATCTCTGTCTCTAGCCTGGTGGGACTTCTTGAAAAGCACTTCT
TCCCCAAGTGGCTTCAGGTGCTGTGCTCTTGGCTCAGTAACAGCCCAAATTATGAGGAGATCAC
CAAGTGGTACCTGGGTTGGAAGTCGATGTTCTCAGACCAAGTGCTGGCACATCCATCTGTCAAG
GACAAATTTAATGAGGCACTTGATATCATGAACCGGGCGGTGTCCTCCAACGTTGGTGCCTACA
TGCAGCCAGGAGCACGGGAGAACATTGCCTATCTCACCCACACGGAGCGGAGGAAGGACTTCCA
GTACGAGGCCATGCAGGAGAGGCGGGAGGCTGAGAACATGGCTCAGAGGGGCATTGGCGTGGCC
GCTAGCTCTGTGCCCATGAACTTTAAGGACCTCATTGAGACCAAGGCTGAGGAGCACAACATTG
TCTTCATGCCCGTCATTGGGAAGCGACACGAAGGGAAGCAGCTCTACACCTTTGGCCGCATTGT
GATCTACATCGACCGGGGAGTGGTCTTTGTCCAGGGCGAGAAGACGTGGGTGCCCACCTCACTG
CAGAGCCTGATCGACATGGCCAAGTGAACTGTGGCAGGTCCAGAACCAGTCAGAGACTTGCCCC
TAAGAGGGATGTACTGTAAATAAACAGTATTTTTAGATCACCTTCAAAAGGGTAACTTCTTTAC
TCAGGAGCTACTCCACATCAGGCCAGGTCATGAGGGAAGGATGTAAAATGGGACAATGCCACGT
AGGGCAGGAATCTTTATACCAAGTCCTCATGTGGGGTATCGTCCTCAAAACAGGACAGCCAAGT
TGATGTTCTTTCCTGGCAAAGGAGTTCTCTGTAGTTCCTCCATAGCAGCCTTCCCTTTAGTCTC
TGGTGGCAGCTTCTACCTCAGCCAACACTGAGTACCTCACAACGAGTTCAGTCAGTAGCAGAAG
GATCTTCTCTCTTGTTCCTGATGATTTCAAGGTCCTCACAGTCCTGATAATCTGGTTCTTCCCG
AAACTCCCAAATATCTATGGAGAGCTGTTCTAGCTTTTGCACAGGGAACCAGTGGACAGAGGTA
TCATTAAATATGTCCATGTATTGTGAAGTCTGAGGAAACTCAAGCTCCTCCAGTCCTTTTAAAA
TCTGAGCAGAAAAATTCAAGTATAAAAACTTCAGATAGTCACAGTAATCCCCACTCTTCTGGGA
TAAATTTCCACTTTACTTGTCATCCCCACTTTACTTTTTAAAAAAATAACAAATAGGGTATTTT
GATTTAAATGCTTTTGCACAATGAATTGGGCGCCCCAAGGACAGTGGATATCATGGACTGTGAT
ACTAAGAATAAAGGAAATAAGGAAAAAACTAA

hide sequence

RefSeq Acc Id:

NM_001346857 ⟹ NP_001333786

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI

Sequence:

show sequence

GCTTCCGGGTTCTGGTGTAGGAGCGGCGTCTTCTCGCGCGGATGGTGAAGCTGAATTTGGTACG
CTGGACCCTCGGACAGACAGCAAGAGAGAGACAAGCCCGAGGCCTGACTTCTAGCACTCCTGAG
TTTGAGCCCTATGAGCAGTGGAACCTAGGCCTGCAGACAGCCTATTGTGGGACCTTTTGATCGT
GACCACCAAGGATCCAGATATAATTCTTTCCTCAGTAATAGAAAAAAGAATCTGGGATCTAAGA
AGATACCTACTCATTTTCTAAGTGACTGGCCATGTCATTGTCCCACTTATACCGGGATGGGGAA
GGCCGCATTGATGATGATGATGACGAGCGGGAGAACTTTGAGATCACTGACTGGGATCTCCAGA
ATGAGTTCAACCCCAACCGACAGCGCCACTGGCAGACCAAGGAAGAAGCCACCTACGGGGTGTG
GGCAGAGCGAGACTCGGATGATGAGAGGCCCAGCTTTGGAGGCAAACGGGCCCGTGACTACTCT
GCGCCAGTCAACTTCATCAGCGCAGGGCTCAAGAAAGGGGCAGCGGAGGAGGCAGAGTTGGAAG
ATTCTGATGACGAAGAGAAACCTGTTAAGCAGGACGACTTTCCTAAGGATTTTGGACCAAGGAA
GCTAAAAACGGGTGGCAATTTTAAGCCCAGCCAGAAAGGTTTTGCAGGAGGAACCAAATCTTTC
ATGGACTTCGGCAGCTGGGAAAGACACACAAAAGGAATTGGACAGAAGCTTCTTCAGAAGATGG
GCTACGTCCCTGGACGGGGCCTCGGGAAGAATGCACAAGGTATCATTAACCCAATTGAAGCCAA
GCAGAGAAAGGGAAAAGGTGCTGTGGGGGCTTATGGATCCGAGCGCACCACTCAGTCCATGCAA
GACTTCCCTGTGGTTGACTCAGAGGAAGAAGCTGAAGAGGAGTTTCAGAAGGAGCTGAGCCAGT
GGAGGAAAGACCCAAGTGGAAGCAAGAAGAAGCCCAAATACTCTTACAAGACCGTGGAAGAGTT
GAAGGCCAAGGGCAGGATTAGCAAGAAGCTCACTGCTCCCCAGAAGGAACTTTCTCAAGTCAAG
GTCATAGACATGACAGGCCGGGAGCAGAAGGTCTACTACAGCTACAGTCAGATCAGCCACAAGC
ACAACGTTCCCGATGATGGGCTGCCGCTACAGTCCCAACAGCTGCCACAGTCTGGCAAAGAGGC
CAAGGCCCCCGGCTTCGCGCTGCCCGAGCTGGAGCACAACCTGCAGCTGCTCATCGACCTCACG
GAGCAGGAGATCATCCAGAATGACCGGCAGCTACAGTATGAGCGGGACATGGTGGTCAACCTCT
TCCACGAGCTGGAGAAGATGACCGAGGTCCTGGACCACGAGGAGCGGGTCATCTCGAACCTCAG
CAAGGTCCTGGAGATGGTGGAGGAGTGCGAGCGGCGGATGCAGCCCGACTGCAGCAACCCCCTC
ACCCTGGACGAGTGTGCCCGCATCTTCGAAACCCTGCAGGACAAGTACTATGAGGAGTACAGGA
TGTCCGACCGTGTGGACCTTGCTGTGGCCATCGTCTATCCACTCATGAAGGAGTACTTCAAGGA
GTGGGATCCCCTCAAAGACTGCACTTATGGCACCGAGATCATCTCTAAGTGGAAAAGCCTCCTA
GAGAATGACCAGCTCTTGTCCCATGGCGGACAGGACCTCTCAGCAGATGCCTTTCACAGGTTGA
TATGGGAAGTCTGGATGCCTTTTGTTCGAAATATTGTCACCCAGTGGCAGCCAAGGAACTGTGA
CCCGATGGTGGACTTTTTGGATAGTTGGGTGCACATTATTCCTGTGTGGATCTTAGATAACATA
CTGGACCAACTCATCTTCCCCAAGCTGCAAAAGGAGGTGGAAAACTGGAACCCGCTCACAGACA
CTGTTCCCATCCACTCTTGGATCCACCCATGGCTGCCCCTTATGCAGGCACGGCTGGAGCCACT
CTATTCCCCCATCCGTAGTAAGCTGTCCAGCGCCCTGCAGAAGTGGCACCCCAGCGACTCCTCT
GCCAAGCTCATCCTCCAGCCCTGGAAGGATGTCTTCACTCCTGGCTCCTGGGAAGCATTCATGG
TCAAAAACATAGTGCCCAAGCTGGGGATGTGTCTTGGTGAGCTAGTCATTAACCCCCACCAGCA
GCACATGGATGCATTCTATTGGGTGATTGACTGGGAAGGGATGATCTCTGTCTCTAGCCTGGTG
GGACTTCTTGAAAAGCACTTCTTCCCCAAGTGGCTTCAGGTGCTGTGCTCTTGGCTCAGTAACA
GCCCAAATTATGAGGAGATCACCAAGTGGTACCTGGGTTGGAAGTCGATGTTCTCAGACCAAGT
GCTGGCACATCCATCTGTCAAGGACAAATTTAATGAGGCACTTGATATCATGAACCGGGCGGTG
TCCTCCAACGTTGGTGCCTACATGCAGCCAGGAGCACGGGAGAACATTGCCTATCTCACCCACA
CGGAGCGGAGGAAGGACTTCCAGTACGAGGCCATGCAGGAGAGGCGGGAGGCTGAGAACATGGC
TCAGAGGGGCATTGGCGTGGCCGCTAGCTCTGTGCCCATGAACTTTAAGGACCTCATTGAGACC
AAGGCTGAGGAGCACAACATTGTCTTCATGCCCGTCATTGGGAAGCGACACGAAGGGAAGCAGC
TCTACACCTTTGGCCGCATTGTGATCTACATCGACCGGGGAGTGGTCTTTGTCCAGGGCGAGAA
GACGTGGGTGCCCACCTCACTGCAGAGCCTGATCGACATGGCCAAGTGAACTGTGGCAGGTCCA
GAACCAGTCAGAGACTTGCCCCTAAGAGGGATGTACTGTAAATAAACAGTATTTTTAGATCACC
TTCAAAAGGGTAACTTCTTTACTCAGGAGCTACTCCACATCAGGCCAGGTCATGAGGGAAGGAT
GTAAAATGGGACAATGCCACGTAGGGCAGGAATCTTTATACCAAGTCCTCATGTGGGGTATCGT
CCTCAAAACAGGACAGCCAAGTTGATGTTCTTTCCTGGCAAAGGAGTTCTCTGTAGTTCCTCCA
TAGCAGCCTTCCCTTTAGTCTCTGGTGGCAGCTTCTACCTCAGCCAACACTGAGTACCTCACAA
CGAGTTCAGTCAGTAGCAGAAGGATCTTCTCTCTTGTTCCTGATGATTTCAAGGTCCTCACAGT
CCTGATAATCTGGTTCTTCCCGAAACTCCCAAATATCTATGGAGAGCTGTTCTAGCTTTTGCAC
AGGGAACCAGTGGACAGAGGTATCATTAAATATGTCCATGTATTGTGAAGTCTGAGGAAACTCA
AGCTCCTCCAGTCCTTTTAAAATCTGAGCAGAAAAATTCAAGTATAAAAACTTCAGATAGTCAC
AGTAATCCCCACTCTTCTGGGATAAATTTCCACTTTACTTGTCATCCCCACTTTACTTTTTAAA
AAAATAACAAATAGGGTATTTTGATTTAAATGCTTTTGCACAATGAATTGGGCGCCCCAAGGAC
AGTGGATATCATGGACTGTGATACTAAGAATAAAGGAAATAAGGAAAAAACTAA

hide sequence

RefSeq Acc Id:

NM_001346858 ⟹ NP_001333787

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI

Sequence:

show sequence

GCTTCCGGGTTCTGGTGTAGGAGCGGCGTCTTCTCGCGCGGATGGTGAAGCTGAATTTGGTACG
CTGGACCCTCGGACAGACAGCAAGAGAGAGACAAGCCCGAGGCCTGACTTCTAGCACTCCTGAG
TTTGAGCCCTATGAGCAGTGGAACCTAGGCTGCCAGCACGGCAAGAATATAAGCAGGCAGAAAA
ATGTGAAAAGAGAGACTGGCCTAGCCTCCCAGCCTATATCTTTCTCCTGTGCTGGATGCTTCCT
GCCCTCGAACATTGGACTTCAAGTTCTTCAGCTTTGGAACTTGACTGGCTCTCCTTGCTCCTCA
GCCTGCAGACAGCCTATTGTGGGACCTTTTGATCGTGACCACCAAGGATCCAGATATAATTCTT
TCCTCAGTAATAGAAAAAAGAATCTGGGATCTAAGAAGATACCTACTCATTTTCTAAGTGACTG
GCCATGTCATTGTCCCACTTATACCGGGATGGGGAAGGCCGCATTGATGATGATGATGACGAGC
GGGAGAACTTTGAGATCACTGACTGGGATCTCCAGAATGAGTTCAACCCCAACCGACAGCGCCA
CTGGCAGACCAAGGAAGAAGCCACCTACGGGGTGTGGGCAGAGCGAGACTCGGATGATGAGAGG
CCCAGCTTTGGAGGCAAACGGGCCCGTGACTACTCTGCGCCAGTCAACTTCATCAGCGCAGGGC
TCAAGAAAGGGGCAGCGGAGGAGGCAGAGTTGGAAGATTCTGATGACGAAGAGAAACCTGTTAA
GCAGGACGACTTTCCTAAGGATTTTGGACCAAGGAAGCTAAAAACGGGTGGCAATTTTAAGCCC
AGCCAGAAAGGTTTTGCAGGAGGAACCAAATCTTTCATGGACTTCGGCAGCTGGGAAAGACACA
CAAAAGGAATTGGACAGAAGCTTCTTCAGAAGATGGGCTACGTCCCTGGACGGGGCCTCGGGAA
GAATGCACAAGGTATCATTAACCCAATTGAAGCCAAGCAGAGAAAGGGAAAAGGTGCTGTGGGG
GCTTATGGATCCGAGCGCACCACTCAGTCCATGCAAGACTTCCCTGTGGTTGACTCAGAGGAAG
AAGCTGAAGAGGAGTTTCAGAAGGAGCTGAGCCAGTGGAGGAAAGACCCAAGTGGAAGCAAGAA
GAAGCCCAAATACTCTTACAAGACCGTGGAAGAGTTGAAGGCCAAGGGCAGGATTAGCAAGAAG
CTCACTGCTCCCCAGAAGGAACTTTCTCAAGTCAAGGTCATAGACATGACAGGCCGGGAGCAGA
AGGTCTACTACAGCTACAGTCAGATCAGCCACAAGCACAACGTTCCCGATGATGGGCTGCCGCT
ACAGTCCCAACAGCTGCCACAGTCTGGCAAAGAGGCCAAGGCCCCCGGCTTCGCGCTGCCCGAG
CTGGAGCACAACCTGCAGCTGCTCATCGACCTCACGGAGCAGGAGATCATCCAGAATGACCGGC
AGCTACAGTATGAGCGGGACATGGTGGTCAACCTCTTCCACGAGCTGGAGAAGATGACCGAGGT
CCTGGACCACGAGGAGCGGGTCATCTCGAACCTCAGCAAGGTCCTGGAGATGGTGGAGGAGTGC
GAGCGGCGGATGCAGCCCGACTGCAGCAACCCCCTCACCCTGGACGAGTGTGCCCGCATCTTCG
AAACCCTGCAGGACAAGTACTATGAGGAGTACAGGATGTCCGACCGTGTGGACCTTGCTGTGGC
CATCGTCTATCCACTCATGAAGGAGTACTTCAAGGAGTGGGATCCCCTCAAAGACTGCACTTAT
GGCACCGAGATCATCTCTAAGTGGAAAAGCCTCCTAGAGAATGACCAGCTCTTGTCCCATGGCG
GACAGGACCTCTCAGCAGATGCCTTTCACAGGTTGATATGGGAAGTCTGGATGCCTTTTGTTCG
AAATATTGTCACCCAGTGGCAGCCAAGGAACTGTGACCCGATGGTGGACTTTTTGGATAGTTGG
GTGCACATTATTCCTGTGTGGATCTTAGATAACATACTGGACCAACTCATCTTCCCCAAGCTGC
AAAAGGAGGTGGAAAACTGGAACCCGCTCACAGACACTGTTCCCATCCACTCTTGGATCCACCC
ATGGCTGCCCCTTATGCAGGCACGGCTGGAGCCACTCTATTCCCCCATCCGTAGTAAGCTGTCC
AGCGCCCTGCAGAAGTGGCACCCCAGCGACTCCTCTGCCAAGCTCATCCTCCAGCCCTGGAAGG
ATGTCTTCACTCCTGGCTCCTGGGAAGCATTCATGGTCAAAAACATAGTGCCCAAGCTGGGGAT
GTGTCTTGGTGAGCTAGTCATTAACCCCCACCAGCAGCACATGGATGCATTCTATTGGGTGATT
GACTGGGAAGGGATGATCTCTGTCTCTAGCCTGGTGGGACTTCTTGAAAAGCACTTCTTCCCCA
AGTGGCTTCAGGTGCTGTGCTCTTGGCTCAGTAACAGCCCAAATTATGAGGAGATCACCAAGTG
GTACCTGGGTTGGAAGTCGATGTTCTCAGACCAAGTGCTGGCACATCCATCTGTCAAGGACAAA
TTTAATGAGGCACTTGATATCATGAACCGGGCGGTGTCCTCCAACGTTGGTGCCTACATGCAGC
CAGGAGCACGGGAGAACATTGCCTATCTCACCCACACGGAGCGGAGGAAGGACTTCCAGTACGA
GGCCATGCAGGAGAGGCGGGAGGCTGAGAACATGGCTCAGAGGGGCATTGGCGTGGCCGCTAGC
TCTGTGCCCATGAACTTTAAGGACCTCATTGAGACCAAGGCTGAGGAGCACAACATTGTCTTCA
TGCCCGTCATTGGGAAGCGACACGAAGGGAAGCAGCTCTACACCTTTGGCCGCATTGTGATCTA
CATCGACCGGGGAGTGGTCTTTGTCCAGGGCGAGAAGACGTGGGTGCCCACCTCACTGCAGAGC
CTGATCGACATGGCCAAGTGAACTGTGGCAGGTCCAGAACCAGTCAGAGACTTGCCCCTAAGAG
GGATGTACTGTAAATAAACAGTATTTTTAGATCACCTTCAAAAGGGTAACTTCTTTACTCAGGA
GCTACTCCACATCAGGCCAGGTCATGAGGGAAGGATGTAAAATGGGACAATGCCACGTAGGGCA
GGAATCTTTATACCAAGTCCTCATGTGGGGTATCGTCCTCAAAACAGGACAGCCAAGTTGATGT
TCTTTCCTGGCAAAGGAGTTCTCTGTAGTTCCTCCATAGCAGCCTTCCCTTTAGTCTCTGGTGG
CAGCTTCTACCTCAGCCAACACTGAGTACCTCACAACGAGTTCAGTCAGTAGCAGAAGGATCTT
CTCTCTTGTTCCTGATGATTTCAAGGTCCTCACAGTCCTGATAATCTGGTTCTTCCCGAAACTC
CCAAATATCTATGGAGAGCTGTTCTAGCTTTTGCACAGGGAACCAGTGGACAGAGGTATCATTA
AATATGTCCATGTATTGTGAAGTCTGAGGAAACTCAAGCTCCTCCAGTCCTTTTAAAATCTGAG
CAGAAAAATTCAAGTATAAAAACTTCAGATAGTCACAGTAATCCCCACTCTTCTGGGATAAATT
TCCACTTTACTTGTCATCCCCACTTTACTTTTTAAAAAAATAACAAATAGGGTATTTTGATTTA
AATGCTTTTGCACAATGAATTGGGCGCCCCAAGGACAGTGGATATCATGGACTGTGATACTAAG
AATAAAGGAAATAAGGAAAAAACTAA

hide sequence

RefSeq Acc Id:

NM_001346859 ⟹ NP_001333788

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI

Sequence:

show sequence

GCTTCCGGGTTCTGGTGTAGGAGCGGCGTCTTCTCGCGCGGATGGTGAAGCTGAATTTGGTACG
CTGGACCCTCGGACAGACAGCAAGAGAGAGACAAGCCCGAGGCCTGACTTCTAGCACTCCTGAG
TTTGAGCCCTATGAGCAGTGGAACCTAGGTAATAGAAAAAAGAATCTGGGATCTAAGAAGATAC
CTACTCATTTTCTAAGTGACTGGCCATGTCATTGTCCCACTTATACCGGGATGGGGAAGGCCGC
ATTGATGATGATGATGACGAGCGGGAGAACTTTGAGATCACTGACTGGGATCTCCAGAATGAGT
TCAACCCCAACCGACAGCGCCACTGGCAGACCAAGGAAGAAGCCACCTACGGGGTGTGGGCAGA
GCGAGACTCGGATGATGAGAGGCCCAGCTTTGGAGGCAAACGGGCCCGTGACTACTCTGCGCCA
GTCAACTTCATCAGCGCAGGGCTCAAGAAAGGGGCAGCGGAGGAGGCAGAGTTGGAAGATTCTG
ATGACGAAGAGAAACCTGTTAAGCAGGACGACTTTCCTAAGGATTTTGGACCAAGGAAGCTAAA
AACGGGTGGCAATTTTAAGCCCAGCCAGAAAGGTTTTGCAGGAGGAACCAAATCTTTCATGGAC
TTCGGCAGCTGGGAAAGACACACAAAAGGAATTGGACAGAAGCTTCTTCAGAAGATGGGCTACG
TCCCTGGACGGGGCCTCGGGAAGAATGCACAAGGTATCATTAACCCAATTGAAGCCAAGCAGAG
AAAGGGAAAAGGTGCTGTGGGGGCTTATGGATCCGAGCGCACCACTCAGTCCATGCAAGACTTC
CCTGTGGTTGACTCAGAGGAAGAAGCTGAAGAGGAGTTTCAGAAGGAGCTGAGCCAGTGGAGGA
AAGACCCAAGTGGAAGCAAGAAGAAGCCCAAATACTCTTACAAGACCGTGGAAGAGTTGAAGGC
CAAGGGCAGGATTAGCAAGAAGCTCACTGCTCCCCAGAAGGAACTTTCTCAAGTCAAGGTCATA
GACATGACAGGCCGGGAGCAGAAGGTCTACTACAGCTACAGTCAGATCAGCCACAAGCACAACG
TTCCCGATGATGGGCTGCCGCTACAGTCCCAACAGCTGCCACAGTCTGGCAAAGAGGCCAAGGC
CCCCGGCTTCGCGCTGCCCGAGCTGGAGCACAACCTGCAGCTGCTCATCGACCTCACGGAGCAG
GAGATCATCCAGAATGACCGGCAGCTACAGTATGAGCGGGACATGGTGGTCAACCTCTTCCACG
AGCTGGAGAAGATGACCGAGGTCCTGGACCACGAGGAGCGGGTCATCTCGAACCTCAGCAAGGT
CCTGGAGATGGTGGAGGAGTGCGAGCGGCGGATGCAGCCCGACTGCAGCAACCCCCTCACCCTG
GACGAGTGTGCCCGCATCTTCGAAACCCTGCAGGACAAGTACTATGAGGAGTACAGGATGTCCG
ACCGTGTGGACCTTGCTGTGGCCATCGTCTATCCACTCATGAAGGAGTACTTCAAGGAGTGGGA
TCCCCTCAAAGACTGCACTTATGGCACCGAGATCATCTCTAAGTGGAAAAGCCTCCTAGAGAAT
GACCAGCTCTTGTCCCATGGCGGACAGGACCTCTCAGCAGATGCCTTTCACAGGTTGATATGGG
AAGTCTGGATGCCTTTTGTTCGAAATATTGTCACCCAGTGGCAGCCAAGGAACTGTGACCCGAT
GGTGGACTTTTTGGATAGTTGGGTGCACATTATTCCTGTGTGGATCTTAGATAACATACTGGAC
CAACTCATCTTCCCCAAGCTGCAAAAGGAGGTGGAAAACTGGAACCCGCTCACAGACACTGTTC
CCATCCACTCTTGGATCCACCCATGGCTGCCCCTTATGCAGGCACGGCTGGAGCCACTCTATTC
CCCCATCCGTAGTAAGCTGTCCAGCGCCCTGCAGAAGTGGCACCCCAGCGACTCCTCTGCCAAG
CTCATCCTCCAGCCCTGGAAGGATGTCTTCACTCCTGGCTCCTGGGAAGCATTCATGGTCAAAA
ACATAGTGCCCAAGCTGGGGATGTGTCTTGGTGAGCTAGTCATTAACCCCCACCAGCAGCACAT
GGATGCATTCTATTGGGTGATTGACTGGGAAGGGATGATCTCTGTCTCTAGCCTGGTGGGACTT
CTTGAAAAGCACTTCTTCCCCAAGTGGCTTCAGGTGCTGTGCTCTTGGCTCAGTAACAGCCCAA
ATTATGAGGAGATCACCAAGTGGTACCTGGGTTGGAAGTCGATGTTCTCAGACCAAGTGCTGGC
ACATCCATCTGTCAAGGACAAATTTAATGAGGCACTTGATATCATGAACCGGGCGGTGTCCTCC
AACGTTGGTGCCTACATGCAGCCAGGAGCACGGGAGAACATTGCCTATCTCACCCACACGGAGC
GGAGGAAGGACTTCCAGTACGAGGCCATGCAGGAGAGGCGGGAGGCTGAGAACATGGCTCAGAG
GGGCATTGGCGTGGCCGCTAGCTCTGTGCCCATGAACTTTAAGGACCTCATTGAGACCAAGGCT
GAGGAGCACAACATTGTCTTCATGCCCGTCATTGGGAAGCGACACGAAGGGAAGCAGCTCTACA
CCTTTGGCCGCATTGTGATCTACATCGACCGGGGAGTGGTCTTTGTCCAGGGCGAGAAGACGTG
GGTGCCCACCTCACTGCAGAGCCTGATCGACATGGCCAAGTGAACTGTGGCAGGTCCAGAACCA
GTCAGAGACTTGCCCCTAAGAGGGATGTACTGTAAATAAACAGTATTTTTAGATCACCTTCAAA
AGGGTAACTTCTTTACTCAGGAGCTACTCCACATCAGGCCAGGTCATGAGGGAAGGATGTAAAA
TGGGACAATGCCACGTAGGGCAGGAATCTTTATACCAAGTCCTCATGTGGGGTATCGTCCTCAA
AACAGGACAGCCAAGTTGATGTTCTTTCCTGGCAAAGGAGTTCTCTGTAGTTCCTCCATAGCAG
CCTTCCCTTTAGTCTCTGGTGGCAGCTTCTACCTCAGCCAACACTGAGTACCTCACAACGAGTT
CAGTCAGTAGCAGAAGGATCTTCTCTCTTGTTCCTGATGATTTCAAGGTCCTCACAGTCCTGAT
AATCTGGTTCTTCCCGAAACTCCCAAATATCTATGGAGAGCTGTTCTAGCTTTTGCACAGGGAA
CCAGTGGACAGAGGTATCATTAAATATGTCCATGTATTGTGAAGTCTGAGGAAACTCAAGCTCC
TCCAGTCCTTTTAAAATCTGAGCAGAAAAATTCAAGTATAAAAACTTCAGATAGTCACAGTAAT
CCCCACTCTTCTGGGATAAATTTCCACTTTACTTGTCATCCCCACTTTACTTTTTAAAAAAATA
ACAAATAGGGTATTTTGATTTAAATGCTTTTGCACAATGAATTGGGCGCCCCAAGGACAGTGGA
TATCATGGACTGTGATACTAAGAATAAAGGAAATAAGGAAAAAACTAA

hide sequence

RefSeq Acc Id:

NM_001346861 ⟹ NP_001333790

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI

Sequence:

show sequence

GCTTCCGGGTTCTGGTGTAGGAGCGGCGTCTTCTCGCGCGGATGGTGAAGCTGAATTTGGTACG
CTGGACCCTCGGACAGCAAGAGAGAGACAAGCCCGAGGCCTGACTTCTAGCACTCCTGAGTTTG
AGCCCTATGAGCAGTGGAACCTAGGGACCACCAAGGATCCAGATATAATTCTTTCCTCAGTAAT
AGAAAAAAGAATCTGGGATCTAAGAAGATACCTACTCATTTTCTAAGTGACTGGCCATGTCATT
GTCCCACTTATACCGGGATGGGGAAGGCCGCATTGATGATGATGATGACGAGCGGGAGAACTTT
GAGATCACTGACTGGGATCTCCAGAATGAGTTCAACCCCAACCGACAGCGCCACTGGCAGACCA
AGGAAGAAGCCACCTACGGGGTGTGGGCAGAGCGAGACTCGGATGATGAGAGGCCCAGCTTTGG
AGGCAAACGGGCCCGTGACTACTCTGCGCCAGTCAACTTCATCAGCGCAGGGCTCAAGAAAGGG
GCAGCGGAGGAGGCAGAGTTGGAAGATTCTGATGACGAAGAGAAACCTGTTAAGCAGGACGACT
TTCCTAAGGATTTTGGACCAAGGAAGCTAAAAACGGGTGGCAATTTTAAGCCCAGCCAGAAAGG
TTTTGCAGGAGGAACCAAATCTTTCATGGACTTCGGCAGCTGGGAAAGACACACAAAAGGAATT
GGACAGAAGCTTCTTCAGAAGATGGGCTACGTCCCTGGACGGGGCCTCGGGAAGAATGCACAAG
GTATCATTAACCCAATTGAAGCCAAGCAGAGAAAGGGAAAAGGTGCTGTGGGGGCTTATGGATC
CGAGCGCACCACTCAGTCCATGCAAGACTTCCCTGTGGTTGACTCAGAGGAAGAAGCTGAAGAG
GAGTTTCAGAAGGAGCTGAGCCAGTGGAGGAAAGACCCAAGTGGAAGCAAGAAGAAGCCCAAAT
ACTCTTACAAGACCGTGGAAGAGTTGAAGGCCAAGGGCAGGATTAGCAAGAAGCTCACTGCTCC
CCAGAAGGAACTTTCTCAAGTCAAGGTCATAGACATGACAGGCCGGGAGCAGAAGGTCTACTAC
AGCTACAGTCAGATCAGCCACAAGCACAACGTTCCCGATGATGGGCTGCCGCTACAGTCCCAAC
AGCTGCCACAGTCTGGCAAAGAGGCCAAGGCCCCCGGCTTCGCGCTGCCCGAGCTGGAGCACAA
CCTGCAGCTGCTCATCGACCTCACGGAGCAGGAGATCATCCAGAATGACCGGCAGCTACAGTAT
GAGCGGGACATGGTGGTCAACCTCTTCCACGAGCTGGAGAAGATGACCGAGGTCCTGGACCACG
AGGAGCGGGTCATCTCGAACCTCAGCAAGGTCCTGGAGATGGTGGAGGAGTGCGAGCGGCGGAT
GCAGCCCGACTGCAGCAACCCCCTCACCCTGGACGAGTGTGCCCGCATCTTCGAAACCCTGCAG
GACAAGTACTATGAGGAGTACAGGATGTCCGACCGTGTGGACCTTGCTGTGGCCATCGTCTATC
CACTCATGAAGGAGTACTTCAAGGAGTGGGATCCCCTCAAAGACTGCACTTATGGCACCGAGAT
CATCTCTAAGTGGAAAAGCCTCCTAGAGAATGACCAGCTCTTGTCCCATGGCGGACAGGACCTC
TCAGCAGATGCCTTTCACAGGTTGATATGGGAAGTCTGGATGCCTTTTGTTCGAAATATTGTCA
CCCAGTGGCAGCCAAGGAACTGTGACCCGATGGTGGACTTTTTGGATAGTTGGGTGCACATTAT
TCCTGTGTGGATCTTAGATAACATACTGGACCAACTCATCTTCCCCAAGCTGCAAAAGGAGGTG
GAAAACTGGAACCCGCTCACAGACACTGTTCCCATCCACTCTTGGATCCACCCATGGCTGCCCC
TTATGCAGGCACGGCTGGAGCCACTCTATTCCCCCATCCGTAGTAAGCTGTCCAGCGCCCTGCA
GAAGTGGCACCCCAGCGACTCCTCTGCCAAGCTCATCCTCCAGCCCTGGAAGGATGTCTTCACT
CCTGGCTCCTGGGAAGCATTCATGGTCAAAAACATAGTGCCCAAGCTGGGGATGTGTCTTGGTG
AGCTAGTCATTAACCCCCACCAGCAGCACATGGATGCATTCTATTGGGTGATTGACTGGGAAGG
GATGATCTCTGTCTCTAGCCTGGTGGGACTTCTTGAAAAGCACTTCTTCCCCAAGTGGCTTCAG
GTGCTGTGCTCTTGGCTCAGTAACAGCCCAAATTATGAGGAGATCACCAAGTGGTACCTGGGTT
GGAAGTCGATGTTCTCAGACCAAGTGCTGGCACATCCATCTGTCAAGGACAAATTTAATGAGGC
ACTTGATATCATGAACCGGGCGGTGTCCTCCAACGTTGGTGCCTACATGCAGCCAGGAGCACGG
GAGAACATTGCCTATCTCACCCACACGGAGCGGAGGAAGGACTTCCAGTACGAGGCCATGCAGG
AGAGGCGGGAGGCTGAGAACATGGCTCAGAGGGGCATTGGCGTGGCCGCTAGCTCTGTGCCCAT
GAACTTTAAGGACCTCATTGAGACCAAGGCTGAGGAGCACAACATTGTCTTCATGCCCGTCATT
GGGAAGCGACACGAAGGGAAGCAGCTCTACACCTTTGGCCGCATTGTGATCTACATCGACCGGG
GAGTGGTCTTTGTCCAGGGCGAGAAGACGTGGGTGCCCACCTCACTGCAGAGCCTGATCGACAT
GGCCAAGTGAACTGTGGCAGGTCCAGAACCAGTCAGAGACTTGCCCCTAAGAGGGATGTACTGT
AAATAAACAGTATTTTTAGATCACCTTCAAAAGGGTAACTTCTTTACTCAGGAGCTACTCCACA
TCAGGCCAGGTCATGAGGGAAGGATGTAAAATGGGACAATGCCACGTAGGGCAGGAATCTTTAT
ACCAAGTCCTCATGTGGGGTATCGTCCTCAAAACAGGACAGCCAAGTTGATGTTCTTTCCTGGC
AAAGGAGTTCTCTGTAGTTCCTCCATAGCAGCCTTCCCTTTAGTCTCTGGTGGCAGCTTCTACC
TCAGCCAACACTGAGTACCTCACAACGAGTTCAGTCAGTAGCAGAAGGATCTTCTCTCTTGTTC
CTGATGATTTCAAGGTCCTCACAGTCCTGATAATCTGGTTCTTCCCGAAACTCCCAAATATCTA
TGGAGAGCTGTTCTAGCTTTTGCACAGGGAACCAGTGGACAGAGGTATCATTAAATATGTCCAT
GTATTGTGAAGTCTGAGGAAACTCAAGCTCCTCCAGTCCTTTTAAAATCTGAGCAGAAAAATTC
AAGTATAAAAACTTCAGATAGTCACAGTAATCCCCACTCTTCTGGGATAAATTTCCACTTTACT
TGTCATCCCCACTTTACTTTTTAAAAAAATAACAAATAGGGTATTTTGATTTAAATGCTTTTGC
ACAATGAATTGGGCGCCCCAAGGACAGTGGATATCATGGACTGTGATACTAAGAATAAAGGAAA
TAAGGAAAAAACTAA

hide sequence

RefSeq Acc Id:

NM_001346862 ⟹ NP_001333791

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI

Sequence:

show sequence

GCTTCCGGGTTCTGGTGTAGGAGCGGCGTCTTCTCGCGCGGATGGTGAAGCTGAATTTGGTACG
CTGGACCCTCGGACAGACAGCAAGAGAGAGACAAGCCCGAGGCCTGACTTCTAGCACTCCTGAG
TTTGAGCCCTATGAGCAGTGGAACCTAGGGGCCCGTGACTACTCTGCGCCAGTCAACTTCATCA
GCGCAGGGCTCAAGAAAGGGGCAGCGGAGGAGGCAGAGTTGGAAGATTCTGATGACGAAGAGAA
ACCTGTTAAGCAGGACGACTTTCCTAAGGATTTTGGACCAAGGAAGCTAAAAACGGGTGGCAAT
TTTAAGCCCAGCCAGAAAGGTTTTGCAGGAGGAACCAAATCTTTCATGGACTTCGGCAGCTGGG
AAAGACACACAAAAGGAATTGGACAGAAGCTTCTTCAGAAGATGGGCTACGTCCCTGGACGGGG
CCTCGGGAAGAATGCACAAGGTATCATTAACCCAATTGAAGCCAAGCAGAGAAAGGGAAAAGGT
GCTGTGGGGGCTTATGGATCCGAGCGCACCACTCAGTCCATGCAAGACTTCCCTGTGGTTGACT
CAGAGGAAGAAGCTGAAGAGGAGTTTCAGAAGGAGCTGAGCCAGTGGAGGAAAGACCCAAGTGG
AAGCAAGAAGAAGCCCAAATACTCTTACAAGACCGTGGAAGAGTTGAAGGCCAAGGGCAGGATT
AGCAAGAAGCTCACTGCTCCCCAGAAGGAACTTTCTCAAGTCAAGGTCATAGACATGACAGGCC
GGGAGCAGAAGGTCTACTACAGCTACAGTCAGATCAGCCACAAGCACAACGTTCCCGATGATGG
GCTGCCGCTACAGTCCCAACAGCTGCCACAGTCTGGCAAAGAGGCCAAGGCCCCCGGCTTCGCG
CTGCCCGAGCTGGAGCACAACCTGCAGCTGCTCATCGACCTCACGGAGCAGGAGATCATCCAGA
ATGACCGGCAGCTACAGTATGAGCGGGACATGGTGGTCAACCTCTTCCACGAGCTGGAGAAGAT
GACCGAGGTCCTGGACCACGAGGAGCGGGTCATCTCGAACCTCAGCAAGGTCCTGGAGATGGTG
GAGGAGTGCGAGCGGCGGATGCAGCCCGACTGCAGCAACCCCCTCACCCTGGACGAGTGTGCCC
GCATCTTCGAAACCCTGCAGGACAAGTACTATGAGGAGTACAGGATGTCCGACCGTGTGGACCT
TGCTGTGGCCATCGTCTATCCACTCATGAAGGAGTACTTCAAGGAGTGGGATCCCCTCAAAGAC
TGCACTTATGGCACCGAGATCATCTCTAAGTGGAAAAGCCTCCTAGAGAATGACCAGCTCTTGT
CCCATGGCGGACAGGACCTCTCAGCAGATGCCTTTCACAGGTTGATATGGGAAGTCTGGATGCC
TTTTGTTCGAAATATTGTCACCCAGTGGCAGCCAAGGAACTGTGACCCGATGGTGGACTTTTTG
GATAGTTGGGTGCACATTATTCCTGTGTGGATCTTAGATAACATACTGGACCAACTCATCTTCC
CCAAGCTGCAAAAGGAGGTGGAAAACTGGAACCCGCTCACAGACACTGTTCCCATCCACTCTTG
GATCCACCCATGGCTGCCCCTTATGCAGGCACGGCTGGAGCCACTCTATTCCCCCATCCGTAGT
AAGCTGTCCAGCGCCCTGCAGAAGTGGCACCCCAGCGACTCCTCTGCCAAGCTCATCCTCCAGC
CCTGGAAGGATGTCTTCACTCCTGGCTCCTGGGAAGCATTCATGGTCAAAAACATAGTGCCCAA
GCTGGGGATGTGTCTTGGTGAGCTAGTCATTAACCCCCACCAGCAGCACATGGATGCATTCTAT
TGGGTGATTGACTGGGAAGGGATGATCTCTGTCTCTAGCCTGGTGGGACTTCTTGAAAAGCACT
TCTTCCCCAAGTGGCTTCAGGTGCTGTGCTCTTGGCTCAGTAACAGCCCAAATTATGAGGAGAT
CACCAAGTGGTACCTGGGTTGGAAGTCGATGTTCTCAGACCAAGTGCTGGCACATCCATCTGTC
AAGGACAAATTTAATGAGGCACTTGATATCATGAACCGGGCGGTGTCCTCCAACGTTGGTGCCT
ACATGCAGCCAGGAGCACGGGAGAACATTGCCTATCTCACCCACACGGAGCGGAGGAAGGACTT
CCAGTACGAGGCCATGCAGGAGAGGCGGGAGGCTGAGAACATGGCTCAGAGGGGCATTGGCGTG
GCCGCTAGCTCTGTGCCCATGAACTTTAAGGACCTCATTGAGACCAAGGCTGAGGAGCACAACA
TTGTCTTCATGCCCGTCATTGGGAAGCGACACGAAGGGAAGCAGCTCTACACCTTTGGCCGCAT
TGTGATCTACATCGACCGGGGAGTGGTCTTTGTCCAGGGCGAGAAGACGTGGGTGCCCACCTCA
CTGCAGAGCCTGATCGACATGGCCAAGTGAACTGTGGCAGGTCCAGAACCAGTCAGAGACTTGC
CCCTAAGAGGGATGTACTGTAAATAAACAGTATTTTTAGATCACCTTCAAAAGGGTAACTTCTT
TACTCAGGAGCTACTCCACATCAGGCCAGGTCATGAGGGAAGGATGTAAAATGGGACAATGCCA
CGTAGGGCAGGAATCTTTATACCAAGTCCTCATGTGGGGTATCGTCCTCAAAACAGGACAGCCA
AGTTGATGTTCTTTCCTGGCAAAGGAGTTCTCTGTAGTTCCTCCATAGCAGCCTTCCCTTTAGT
CTCTGGTGGCAGCTTCTACCTCAGCCAACACTGAGTACCTCACAACGAGTTCAGTCAGTAGCAG
AAGGATCTTCTCTCTTGTTCCTGATGATTTCAAGGTCCTCACAGTCCTGATAATCTGGTTCTTC
CCGAAACTCCCAAATATCTATGGAGAGCTGTTCTAGCTTTTGCACAGGGAACCAGTGGACAGAG
GTATCATTAAATATGTCCATGTATTGTGAAGTCTGAGGAAACTCAAGCTCCTCCAGTCCTTTTA
AAATCTGAGCAGAAAAATTCAAGTATAAAAACTTCAGATAGTCACAGTAATCCCCACTCTTCTG
GGATAAATTTCCACTTTACTTGTCATCCCCACTTTACTTTTTAAAAAAATAACAAATAGGGTAT
TTTGATTTAAATGCTTTTGCACAATGAATTGGGCGCCCCAAGGACAGTGGATATCATGGACTGT
GATACTAAGAATAAAGGAAATAAGGAAAAAACTAA

hide sequence

RefSeq Acc Id:

NM_012143 ⟹ NP_036275

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	26,491,240 - 26,512,473 (-)	NCBI
GRCh37	22	26,887,893 - 26,908,462 (-)	NCBI
Build 36	22	25,217,893 - 25,238,437 (-)	NCBI Archive
Celera	22	10,691,755 - 10,712,292 (-)	RGD
HuRef	22	9,835,458 - 9,855,829 (-)	RGD
CHM1_1	22	26,847,289 - 26,867,694 (-)	NCBI
T2T-CHM13v2.0	22	26,953,642 - 26,974,877 (-)	NCBI

Sequence:

show sequence

GCTTCCGGGTTCTGGTGTAGGAGCGGCGTCTTCTCGCGCGGATGGTGAAGCTGAATTTGGTACG
CTGGACCCTCGGACAGACAGCAAGAGAGAGACAAGCCCGAGGCCTGACTTCTAGCACTCCTGAG
TTTGAGCCCTATGAGCAGTGGAACCTAGGGACCACCAAGGATCCAGATATAATTCTTTCCTCAG
TAATAGAAAAAAGAATCTGGGATCTAAGAAGATACCTACTCATTTTCTAAGTGACTGGCCATGT
CATTGTCCCACTTATACCGGGATGGGGAAGGCCGCATTGATGATGATGATGACGAGCGGGAGAA
CTTTGAGATCACTGACTGGGATCTCCAGAATGAGTTCAACCCCAACCGACAGCGCCACTGGCAG
ACCAAGGAAGAAGCCACCTACGGGGTGTGGGCAGAGCGAGACTCGGATGATGAGAGGCCCAGCT
TTGGAGGCAAACGGGCCCGTGACTACTCTGCGCCAGTCAACTTCATCAGCGCAGGGCTCAAGAA
AGGGGCAGCGGAGGAGGCAGAGTTGGAAGATTCTGATGACGAAGAGAAACCTGTTAAGCAGGAC
GACTTTCCTAAGGATTTTGGACCAAGGAAGCTAAAAACGGGTGGCAATTTTAAGCCCAGCCAGA
AAGGTTTTGCAGGAGGAACCAAATCTTTCATGGACTTCGGCAGCTGGGAAAGACACACAAAAGG
AATTGGACAGAAGCTTCTTCAGAAGATGGGCTACGTCCCTGGACGGGGCCTCGGGAAGAATGCA
CAAGGTATCATTAACCCAATTGAAGCCAAGCAGAGAAAGGGAAAAGGTGCTGTGGGGGCTTATG
GATCCGAGCGCACCACTCAGTCCATGCAAGACTTCCCTGTGGTTGACTCAGAGGAAGAAGCTGA
AGAGGAGTTTCAGAAGGAGCTGAGCCAGTGGAGGAAAGACCCAAGTGGAAGCAAGAAGAAGCCC
AAATACTCTTACAAGACCGTGGAAGAGTTGAAGGCCAAGGGCAGGATTAGCAAGAAGCTCACTG
CTCCCCAGAAGGAACTTTCTCAAGTCAAGGTCATAGACATGACAGGCCGGGAGCAGAAGGTCTA
CTACAGCTACAGTCAGATCAGCCACAAGCACAACGTTCCCGATGATGGGCTGCCGCTACAGTCC
CAACAGCTGCCACAGTCTGGCAAAGAGGCCAAGGCCCCCGGCTTCGCGCTGCCCGAGCTGGAGC
ACAACCTGCAGCTGCTCATCGACCTCACGGAGCAGGAGATCATCCAGAATGACCGGCAGCTACA
GTATGAGCGGGACATGGTGGTCAACCTCTTCCACGAGCTGGAGAAGATGACCGAGGTCCTGGAC
CACGAGGAGCGGGTCATCTCGAACCTCAGCAAGGTCCTGGAGATGGTGGAGGAGTGCGAGCGGC
GGATGCAGCCCGACTGCAGCAACCCCCTCACCCTGGACGAGTGTGCCCGCATCTTCGAAACCCT
GCAGGACAAGTACTATGAGGAGTACAGGATGTCCGACCGTGTGGACCTTGCTGTGGCCATCGTC
TATCCACTCATGAAGGAGTACTTCAAGGAGTGGGATCCCCTCAAAGACTGCACTTATGGCACCG
AGATCATCTCTAAGTGGAAAAGCCTCCTAGAGAATGACCAGCTCTTGTCCCATGGCGGACAGGA
CCTCTCAGCAGATGCCTTTCACAGGTTGATATGGGAAGTCTGGATGCCTTTTGTTCGAAATATT
GTCACCCAGTGGCAGCCAAGGAACTGTGACCCGATGGTGGACTTTTTGGATAGTTGGGTGCACA
TTATTCCTGTGTGGATCTTAGATAACATACTGGACCAACTCATCTTCCCCAAGCTGCAAAAGGA
GGTGGAAAACTGGAACCCGCTCACAGACACTGTTCCCATCCACTCTTGGATCCACCCATGGCTG
CCCCTTATGCAGGCACGGCTGGAGCCACTCTATTCCCCCATCCGTAGTAAGCTGTCCAGCGCCC
TGCAGAAGTGGCACCCCAGCGACTCCTCTGCCAAGCTCATCCTCCAGCCCTGGAAGGATGTCTT
CACTCCTGGCTCCTGGGAAGCATTCATGGTCAAAAACATAGTGCCCAAGCTGGGGATGTGTCTT
GGTGAGCTAGTCATTAACCCCCACCAGCAGCACATGGATGCATTCTATTGGGTGATTGACTGGG
AAGGGATGATCTCTGTCTCTAGCCTGGTGGGACTTCTTGAAAAGCACTTCTTCCCCAAGTGGCT
TCAGGTGCTGTGCTCTTGGCTCAGTAACAGCCCAAATTATGAGGAGATCACCAAGTGGTACCTG
GGTTGGAAGTCGATGTTCTCAGACCAAGTGCTGGCACATCCATCTGTCAAGGACAAATTTAATG
AGGCACTTGATATCATGAACCGGGCGGTGTCCTCCAACGTTGGTGCCTACATGCAGCCAGGAGC
ACGGGAGAACATTGCCTATCTCACCCACACGGAGCGGAGGAAGGACTTCCAGTACGAGGCCATG
CAGGAGAGGCGGGAGGCTGAGAACATGGCTCAGAGGGGCATTGGCGTGGCCGCTAGCTCTGTGC
CCATGAACTTTAAGGACCTCATTGAGACCAAGGCTGAGGAGCACAACATTGTCTTCATGCCCGT
CATTGGGAAGCGACACGAAGGGAAGCAGCTCTACACCTTTGGCCGCATTGTGATCTACATCGAC
CGGGGAGTGGTCTTTGTCCAGGGCGAGAAGACGTGGGTGCCCACCTCACTGCAGAGCCTGATCG
ACATGGCCAAGTGAACTGTGGCAGGTCCAGAACCAGTCAGAGACTTGCCCCTAAGAGGGATGTA
CTGTAAATAAACAGTATTTTTAGATCACCTTCAAAAGGGTAACTTCTTTACTCAGGAGCTACTC
CACATCAGGCCAGGTCATGAGGGAAGGATGTAAAATGGGACAATGCCACGTAGGGCAGGAATCT
TTATACCAAGTCCTCATGTGGGGTATCGTCCTCAAAACAGGACAGCCAAGTTGATGTTCTTTCC
TGGCAAAGGAGTTCTCTGTAGTTCCTCCATAGCAGCCTTCCCTTTAGTCTCTGGTGGCAGCTTC
TACCTCAGCCAACACTGAGTACCTCACAACGAGTTCAGTCAGTAGCAGAAGGATCTTCTCTCTT
GTTCCTGATGATTTCAAGGTCCTCACAGTCCTGATAATCTGGTTCTTCCCGAAACTCCCAAATA
TCTATGGAGAGCTGTTCTAGCTTTTGCACAGGGAACCAGTGGACAGAGGTATCATTAAATATGT
CCATGTATTGTGAAGTCTGAGGAAACTCAAGCTCCTCCAGTCCTTTTAAAATCTGAGCAGAAAA
ATTCAAGTATAAAAACTTCAGATAGTCACAGTAATCCCCACTCTTCTGGGATAAATTTCCACTT
TACTTGTCATCCCCACTTTACTTTTTAAAAAAATAACAAATAGGGTATTTTGATTTAAATGCTT
TTGCACAATGAATTGGGCGCCCCAAGGACAGTGGATATCATGGACTGTGATACTAAGAATAAAG
GAAATAAGGAAAAAACTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001008697	(Get FASTA)	NCBI Sequence Viewer
	NP_001333786	(Get FASTA)	NCBI Sequence Viewer
	NP_001333787	(Get FASTA)	NCBI Sequence Viewer
	NP_001333788	(Get FASTA)	NCBI Sequence Viewer
	NP_001333790	(Get FASTA)	NCBI Sequence Viewer
	NP_001333791	(Get FASTA)	NCBI Sequence Viewer
	NP_036275	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD20968	(Get FASTA)	NCBI Sequence Viewer
	AAH11599	(Get FASTA)	NCBI Sequence Viewer
	AAH33080	(Get FASTA)	NCBI Sequence Viewer
	AAP35938	(Get FASTA)	NCBI Sequence Viewer
	BAG60557	(Get FASTA)	NCBI Sequence Viewer
	BAG61790	(Get FASTA)	NCBI Sequence Viewer
	CAB43360	(Get FASTA)	NCBI Sequence Viewer
	CAB45740	(Get FASTA)	NCBI Sequence Viewer
	CAI17878	(Get FASTA)	NCBI Sequence Viewer
	CAJ86441	(Get FASTA)	NCBI Sequence Viewer
	CAQ09360	(Get FASTA)	NCBI Sequence Viewer
	EAW59722	(Get FASTA)	NCBI Sequence Viewer
	EAW59723	(Get FASTA)	NCBI Sequence Viewer
	EAW59724	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000383892.1
	ENSP00000384297
	ENSP00000384297.1
	ENSP00000384421
	ENSP00000384421.1
	ENSP00000385861
	ENSP00000385861.1
	ENSP00000394266.1
	ENSP00000397475.1
	ENSP00000399347.1
	ENSP00000404973.1
	ENSP00000411840.1
	ENSP00000480171
	ENSP00000480171.1
GenBank Protein	Q9UBB9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_036275 ⟸ NM_012143
- Peptide Label:	isoform 1
- UniProtKB:	Q9UGV7 (UniProtKB/Swiss-Prot), Q5H8V8 (UniProtKB/Swiss-Prot), Q20WL0 (UniProtKB/Swiss-Prot), O95908 (UniProtKB/Swiss-Prot), Q9Y2Q8 (UniProtKB/Swiss-Prot), Q9UBB9 (UniProtKB/Swiss-Prot), Q8N523 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERP SFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPS QKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGA YGSERTTQSMQDFPVVDSEEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKL TAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPEL EHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECE RRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYG TEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWV HIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSS ALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQHMDAFYWVID WEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKF NEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASS VPMNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSL IDMAK hide sequence

RefSeq Acc Id:	NP_001008697 ⟸ NM_001008697
- Peptide Label:	isoform 1
- UniProtKB:	Q9UGV7 (UniProtKB/Swiss-Prot), Q5H8V8 (UniProtKB/Swiss-Prot), Q20WL0 (UniProtKB/Swiss-Prot), O95908 (UniProtKB/Swiss-Prot), Q9Y2Q8 (UniProtKB/Swiss-Prot), Q9UBB9 (UniProtKB/Swiss-Prot), Q8N523 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERP SFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPS QKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGA YGSERTTQSMQDFPVVDSEEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKL TAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPEL EHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECE RRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYG TEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWV HIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSS ALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQHMDAFYWVID WEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKF NEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASS VPMNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSL IDMAK hide sequence

RefSeq Acc Id:	NP_001333790 ⟸ NM_001346861
- Peptide Label:	isoform 1
- UniProtKB:	Q9UGV7 (UniProtKB/Swiss-Prot), Q5H8V8 (UniProtKB/Swiss-Prot), Q20WL0 (UniProtKB/Swiss-Prot), O95908 (UniProtKB/Swiss-Prot), Q9Y2Q8 (UniProtKB/Swiss-Prot), Q9UBB9 (UniProtKB/Swiss-Prot), Q8N523 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERP SFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPS QKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGA YGSERTTQSMQDFPVVDSEEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKL TAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPEL EHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECE RRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYG TEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWV HIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSS ALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQHMDAFYWVID WEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKF NEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASS VPMNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSL IDMAK hide sequence

RefSeq Acc Id:	NP_001333791 ⟸ NM_001346862
- Peptide Label:	isoform 2
- UniProtKB:	Q8N523 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVKLNLVRWTLGQTARERQARGLTSSTPEFEPYEQWNLGARDYSAPVNFISAGLKKGAAEEAEL EDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPSQKGFAGGTKSFMDFGSWERHTKGIGQKLLQK MGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGAYGSERTTQSMQDFPVVDSEEEAEEEFQKELS QWRKDPSGSKKKPKYSYKTVEELKAKGRISKKLTAPQKELSQVKVIDMTGREQKVYYSYSQISH KHNVPDDGLPLQSQQLPQSGKEAKAPGFALPELEHNLQLLIDLTEQEIIQNDRQLQYERDMVVN LFHELEKMTEVLDHEERVISNLSKVLEMVEECERRMQPDCSNPLTLDECARIFETLQDKYYEEY RMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYGTEIISKWKSLLENDQLLSHGGQDLSADAFHR LIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWVHIIPVWILDNILDQLIFPKLQKEVENWNPLT DTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSSALQKWHPSDSSAKLILQPWKDVFTPGSWEAF MVKNIVPKLGMCLGELVINPHQQHMDAFYWVIDWEGMISVSSLVGLLEKHFFPKWLQVLCSWLS NSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKFNEALDIMNRAVSSNVGAYMQPGARENIAYLT HTERRKDFQYEAMQERREAENMAQRGIGVAASSVPMNFKDLIETKAEEHNIVFMPVIGKRHEGK QLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSLIDMAK hide sequence

RefSeq Acc Id:	NP_001333788 ⟸ NM_001346859
- Peptide Label:	isoform 1
- UniProtKB:	Q9UGV7 (UniProtKB/Swiss-Prot), Q5H8V8 (UniProtKB/Swiss-Prot), Q20WL0 (UniProtKB/Swiss-Prot), O95908 (UniProtKB/Swiss-Prot), Q9Y2Q8 (UniProtKB/Swiss-Prot), Q9UBB9 (UniProtKB/Swiss-Prot), Q8N523 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERP SFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPS QKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGA YGSERTTQSMQDFPVVDSEEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKL TAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPEL EHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECE RRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYG TEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWV HIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSS ALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQHMDAFYWVID WEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKF NEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASS VPMNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSL IDMAK hide sequence

RefSeq Acc Id:	NP_001333786 ⟸ NM_001346857
- Peptide Label:	isoform 1
- UniProtKB:	Q9UGV7 (UniProtKB/Swiss-Prot), Q5H8V8 (UniProtKB/Swiss-Prot), Q20WL0 (UniProtKB/Swiss-Prot), O95908 (UniProtKB/Swiss-Prot), Q9Y2Q8 (UniProtKB/Swiss-Prot), Q9UBB9 (UniProtKB/Swiss-Prot), Q8N523 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERP SFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPS QKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGA YGSERTTQSMQDFPVVDSEEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKL TAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPEL EHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECE RRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYG TEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWV HIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSS ALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQHMDAFYWVID WEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKF NEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASS VPMNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSL IDMAK hide sequence

RefSeq Acc Id:	NP_001333787 ⟸ NM_001346858
- Peptide Label:	isoform 1
- UniProtKB:	Q9UGV7 (UniProtKB/Swiss-Prot), Q5H8V8 (UniProtKB/Swiss-Prot), Q20WL0 (UniProtKB/Swiss-Prot), O95908 (UniProtKB/Swiss-Prot), Q9Y2Q8 (UniProtKB/Swiss-Prot), Q9UBB9 (UniProtKB/Swiss-Prot), Q8N523 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERP SFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPS QKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGA YGSERTTQSMQDFPVVDSEEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKL TAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPEL EHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECE RRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDRVDLAVAIVYPLMKEYFKEWDPLKDCTYG TEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWV HIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQARLEPLYSPIRSKLSS ALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQHMDAFYWVID WEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSVKDKF NEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASS VPMNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSL IDMAK hide sequence

RefSeq Acc Id:

ENSP00000394266 ⟸ ENST00000450493

RefSeq Acc Id:

ENSP00000411840 ⟸ ENST00000440258

RefSeq Acc Id:

ENSP00000399347 ⟸ ENST00000455080

RefSeq Acc Id:

ENSP00000404973 ⟸ ENST00000418876

RefSeq Acc Id:

ENSP00000384297 ⟸ ENST00000405938

RefSeq Acc Id:

ENSP00000385861 ⟸ ENST00000407148

RefSeq Acc Id:

ENSP00000384421 ⟸ ENST00000407690

RefSeq Acc Id:

ENSP00000383892 ⟸ ENST00000407431

RefSeq Acc Id:

ENSP00000480171 ⟸ ENST00000619735

RefSeq Acc Id:

ENSP00000397475 ⟸ ENST00000420242

Protein Domains

G-patch Tuftelin interacting protein N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UBB9-F1-model_v2	AlphaFold	Q9UBB9	1-837	view protein structure

Promoters

RGD ID:

6800410

Promoter ID:

HG_KWN:42131

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000320753

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	25,220,241 - 25,220,741 (-)	MPROMDB

RGD ID:

6800411

Promoter ID:

HG_KWN:42132

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000320764

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	25,225,016 - 25,225,516 (-)	MPROMDB

RGD ID:

6800484

Promoter ID:

HG_KWN:42135

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:

ENST00000405938, ENST00000407148, ENST00000407431, ENST00000407690, OTTHUMT00000320754, OTTHUMT00000320755, OTTHUMT00000320756, OTTHUMT00000320757, OTTHUMT00000320758, OTTHUMT00000320759, OTTHUMT00000320760, UC010GVF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	25,238,156 - 25,238,656 (+)	MPROMDB

RGD ID:

13603566

Promoter ID:

EPDNEW_H27967

Type:

initiation region

Name:

TFIP11_1

Description:

tuftelin interacting protein 11

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	22	26,512,473 - 26,512,533	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17165	AgrOrtholog
COSMIC	TFIP11	COSMIC
Ensembl Genes	ENSG00000100109	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000405938	ENTREZGENE
	ENST00000405938.5	UniProtKB/Swiss-Prot
	ENST00000407148	ENTREZGENE
	ENST00000407148.5	UniProtKB/Swiss-Prot
	ENST00000407431.5	UniProtKB/Swiss-Prot
	ENST00000407690	ENTREZGENE
	ENST00000407690.6	UniProtKB/Swiss-Prot
	ENST00000418876.5	UniProtKB/TrEMBL
	ENST00000420242.5	UniProtKB/TrEMBL
	ENST00000440258.1	UniProtKB/TrEMBL
	ENST00000450493.1	UniProtKB/TrEMBL
	ENST00000455080.5	UniProtKB/TrEMBL
	ENST00000619735	ENTREZGENE
	ENST00000619735.4	UniProtKB/Swiss-Prot
GTEx	ENSG00000100109	GTEx
HGNC ID	HGNC:17165	ENTREZGENE
Human Proteome Map	TFIP11	Human Proteome Map
InterPro	G_patch_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GCFC_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	STIP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	STIP/TFIP11_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TFP11/STIP/Ntr1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:24144	UniProtKB/Swiss-Prot
NCBI Gene	24144	ENTREZGENE
OMIM	612747	OMIM
PANTHER	PTHR23329	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TUFTELIN-INTERACTING PROTEIN 11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	G-patch	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GCFC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TIP_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38441	PharmGKB
PIRSF	TFIP11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	G_PATCH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	G_patch	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B1AHQ3_HUMAN	UniProtKB/TrEMBL
	F6SQZ1_HUMAN	UniProtKB/TrEMBL
	F6UKU9_HUMAN	UniProtKB/TrEMBL
	F6UQ07_HUMAN	UniProtKB/TrEMBL
	F6XM96_HUMAN	UniProtKB/TrEMBL
	H0Y4U8_HUMAN	UniProtKB/TrEMBL
	O95908	ENTREZGENE
	Q20WL0	ENTREZGENE
	Q5H8V8	ENTREZGENE
	Q8N523	ENTREZGENE, UniProtKB/TrEMBL
	Q9UBB9	ENTREZGENE
	Q9UGV7	ENTREZGENE
	Q9Y2Q8	ENTREZGENE
	TFP11_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	O95908	UniProtKB/Swiss-Prot
	Q20WL0	UniProtKB/Swiss-Prot
	Q5H8V8	UniProtKB/Swiss-Prot
	Q9UGV7	UniProtKB/Swiss-Prot
	Q9Y2Q8	UniProtKB/Swiss-Prot

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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Imported Disease Annotations - ClinVar