Advanced Search (OLGA)

Gene: SKA3 (spindle and kinetochore associated complex subunit 3) Homo sapiens

Analyze

Symbol:

SKA3

Name:

spindle and kinetochore associated complex subunit 3

RGD ID:

1316254

HGNC Page

HGNC:20262

Description:

Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore; negative regulation of mitotic spindle assembly checkpoint signaling; and regulation of microtubule polymerization or depolymerization. Located in cytosol; kinetochore; and microtubule cytoskeleton. Part of SKA complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C13orf3; MGC4832; RAMA1; spindle and kinetochore-associated protein 3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	21,153,595 - 21,176,552 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	21,153,595 - 21,176,552 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	21,727,734 - 21,750,691 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	20,625,734 - 20,648,710 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	20,625,734 - 20,648,710	NCBI
Celera	13	2,789,717 - 2,812,399 (-)	NCBI		Celera
Cytogenetic Map	13	q12.11	NCBI
HuRef	13	2,529,177 - 2,551,862 (-)	NCBI		HuRef
CHM1_1	13	21,695,750 - 21,718,428 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	20,346,668 - 20,369,632 (-)	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

hepatocellular carcinoma (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-naphthyl isothiocyanate (ISO)

17beta-estradiol (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

2-palmitoylglycerol (EXP)

acetamide (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

arsenous acid (ISO)

atrazine (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

calcitriol (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

chromium(6+) (EXP,ISO)

copper(II) sulfate (EXP)

coumestrol (EXP)

DDE (EXP)

diarsenic trioxide (ISO)

Enterolactone (EXP)

enzyme inhibitor (EXP)

ethanol (EXP)

folic acid (EXP)

FR900359 (EXP)

hydrogen peroxide (EXP)

lead(0) (EXP)

lidocaine (ISO)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

menadione (EXP)

methotrexate (EXP)

N-Nitrosopyrrolidine (EXP)

oxaliplatin (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

PCB138 (ISO)

perfluorooctanoic acid (EXP)

phenethyl isothiocyanate (EXP)

resveratrol (EXP)

silicon dioxide (EXP,ISO)

sodium arsenite (EXP,ISO)

sunitinib (EXP)

temozolomide (EXP)

tert-butyl hydroperoxide (EXP)

testosterone (EXP)

thioacetamide (ISO)

thiram (EXP)

topotecan (ISO)

trovafloxacin (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

attachment of mitotic spindle microtubules to kinetochore (IDA,IMP)

cell division (IEA)

chromosome segregation (IBA,IEA)

establishment of meiotic spindle orientation (IEA,ISS)

metaphase chromosome alignment (IMP)

mitotic cell cycle (IBA)

mitotic metaphase chromosome alignment (IPI)

mitotic sister chromatid segregation (IMP)

negative regulation of mitotic spindle assembly checkpoint signaling (IMP)

regulation of microtubule polymerization or depolymerization (IDA)

spindle assembly involved in female meiosis (IEA,ISS)

Cellular Component

centrosome (IDA)

chromosome (IEA)

chromosome, centromeric region (IEA)

cytoplasm (IEA)

cytoskeleton (IEA)

cytosol (IDA)

kinetochore (IBA,IDA,IEA,IPI)

meiotic spindle (IEA)

microtubule (IEA)

mitotic spindle (IDA)

outer kinetochore (IBA,IDA,IEA)

SKA complex (IDA)

spindle (IEA)

spindle microtubule (IBA,IDA)

Molecular Function

microtubule binding (IDA)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:15057823	PMID:15144186	PMID:15489334	PMID:15592455	PMID:16565220	PMID:17207965	PMID:19156129	PMID:19289083	PMID:19360002	PMID:19387489
PMID:19458608	PMID:19549680	PMID:19646878	PMID:20813266	PMID:21633384	PMID:21832049	PMID:21873635	PMID:22371557	PMID:22483620	PMID:22939629	PMID:22990118	PMID:24613305
PMID:24705354	PMID:25281560	PMID:26186194	PMID:26429724	PMID:26496610	PMID:26638075	PMID:26972000	PMID:27329586	PMID:28330616	PMID:28479321	PMID:28495837	PMID:28514442
PMID:29268205	PMID:29487209	PMID:29509190	PMID:29513927	PMID:30033366	PMID:30995489	PMID:31091453	PMID:31515488	PMID:31551363	PMID:31762063	PMID:31804178	PMID:31804459
PMID:32068236	PMID:32229309	PMID:32296183	PMID:32491969	PMID:32687490	PMID:32694731	PMID:32799774	PMID:33001583	PMID:33106477	PMID:33423159	PMID:33760206	PMID:33775353
PMID:33895155	PMID:33916271	PMID:33961781	PMID:34045512	PMID:34079125	PMID:34544967	PMID:34672954	PMID:34709266	PMID:34711122	PMID:35271311	PMID:35439318	PMID:35546682
PMID:36114006	PMID:36567903	PMID:36652389	PMID:36724073	PMID:36728910	PMID:36931259	PMID:37821935	PMID:37827155	PMID:37973787	PMID:38228236	PMID:38280479	PMID:39098523

Genomics

Comparative Map Data

SKA3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	21,153,595 - 21,176,552 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	21,153,595 - 21,176,552 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	21,727,734 - 21,750,691 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	20,625,734 - 20,648,710 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	20,625,734 - 20,648,710	NCBI
Celera	13	2,789,717 - 2,812,399 (-)	NCBI		Celera
Cytogenetic Map	13	q12.11	NCBI
HuRef	13	2,529,177 - 2,551,862 (-)	NCBI		HuRef
CHM1_1	13	21,695,750 - 21,718,428 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	20,346,668 - 20,369,632 (-)	NCBI		T2T-CHM13v2.0

Ska3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	58,044,016 - 58,063,748 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	58,044,018 - 58,063,642 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	57,806,558 - 57,826,291 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	57,806,561 - 57,826,185 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	58,425,398 - 58,445,000 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	56,760,671 - 56,780,273 (-)	NCBI		MGSCv36	mm8
Celera	14	55,603,097 - 55,622,698 (-)	NCBI		Celera
Cytogenetic Map	14	C3	NCBI
cM Map	14	30.51	NCBI

Ska3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	36,067,372 - 36,086,563 (-)	NCBI		GRCr8
mRatBN7.2	15	31,951,812 - 31,971,010 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	31,951,825 - 31,971,010 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	33,944,005 - 33,962,337 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	35,094,675 - 35,113,007 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	33,352,759 - 33,371,092 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	38,077,903 - 38,097,100 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	38,077,909 - 38,096,875 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	41,918,694 - 41,937,891 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	36,848,694 - 36,867,026 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	36,864,972 - 36,877,317 (-)	NCBI
Celera	15	31,663,336 - 31,681,669 (-)	NCBI		Celera
Cytogenetic Map	15	p12	NCBI

Ska3
(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_004955497	1,875,695 - 1,896,587 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955497	1,874,911 - 1,896,588 (-)	NCBI	ChiLan1.0	ChiLan1.0

SKA3
(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	14	20,784,341 - 20,818,841 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	13	11,897,684 - 11,925,841 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	13	2,481,513 - 2,503,849 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	13	20,790,236 - 20,812,638 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	13	20,790,516 - 20,812,554 (-)	Ensembl	panpan1.1		panPan2

SKA3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	25	16,982,174 - 17,011,496 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	25	16,981,931 - 17,001,803 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	17,078,828 - 17,108,137 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	17,118,457 - 17,147,871 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	17,118,211 - 17,138,178 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	16,993,044 - 17,022,404 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	17,004,451 - 17,033,873 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	17,060,592 - 17,089,963 (+)	NCBI		UU_Cfam_GSD_1.0

Ska3
(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_024404945	119,039,152 - 119,062,514 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936720	586,850 - 605,406 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936720	586,730 - 610,397 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SKA3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	11	1,302,886 - 1,320,981 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	11	1,302,880 - 1,321,132 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	11	439,296 - 450,351 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SKA3
(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	3	32,645 - 57,771 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666057	44,559,055 - 44,584,244 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ska3
(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_004624776	16,413,048 - 16,445,892 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624776	16,412,683 - 16,450,784 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SKA3
23 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]\|See cases [RCV000051347]	Chr13:19837195..22574567 [GRCh38] Chr13:20411335..23148706 [GRCh37] Chr13:19309335..22046706 [NCBI36] Chr13:13q12.11	pathogenic
GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	copy number loss	See cases [RCV000051348]	Chr13:20026650..21967789 [GRCh38] Chr13:20600790..22541928 [GRCh37] Chr13:19498790..21439928 [NCBI36] Chr13:13q12.11	pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]\|See cases [RCV000052343]	Chr13:19837395..24884509 [GRCh38] Chr13:20411535..25458647 [GRCh37] Chr13:19309535..24356647 [NCBI36] Chr13:13q12.11-12.12	pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	copy number gain	See cases [RCV000053726]	Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	copy number gain	See cases [RCV000053729]	Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	See cases [RCV000053731]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]\|See cases [RCV000053733]	Chr13:19837395..22904755 [GRCh38] Chr13:20411535..23478894 [GRCh37] Chr13:19309535..22376894 [NCBI36] Chr13:13q12.11-12.12	pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	copy number gain	See cases [RCV000053719]	Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	copy number gain	See cases [RCV000053721]	Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3	pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	copy number gain	See cases [RCV000053723]	Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	copy number gain	See cases [RCV000134104]	Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	copy number loss	See cases [RCV000134754]	Chr13:19885283..22014498 [GRCh38] Chr13:20459423..22588637 [GRCh37] Chr13:19357423..21486637 [NCBI36] Chr13:13q12.11	pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	copy number loss	See cases [RCV000135610]	Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	copy number loss	See cases [RCV000137093]	Chr13:19837395..21967789 [GRCh38] Chr13:20411535..22541928 [GRCh37] Chr13:19309535..21439928 [NCBI36] Chr13:13q12.11	uncertain significance
GRCh38/hg38 13q12.11-12.12(chr13:21164677-22802191)x3	copy number gain	See cases [RCV000137123]	Chr13:21164677..22802191 [GRCh38] Chr13:21738816..23376330 [GRCh37] Chr13:20636816..22274330 [NCBI36] Chr13:13q12.11-12.12	uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	copy number gain	See cases [RCV000137892]	Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	copy number gain	See cases [RCV000139078]	Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	copy number gain	See cases [RCV000140004]	Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	copy number gain	See cases [RCV000141867]	Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2	pathogenic
GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	copy number gain	See cases [RCV000142006]	Chr13:18862146..22489174 [GRCh38] Chr13:19436286..23063313 [GRCh37] Chr13:18334286..21961313 [NCBI36] Chr13:13q11-12.11	pathogenic
GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1	copy number loss	See cases [RCV000143091]	Chr13:20344898..21521293 [GRCh38] Chr13:20919037..22095432 [GRCh37] Chr13:19817037..20993432 [NCBI36] Chr13:13q12.11	uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	copy number gain	See cases [RCV000142924]	Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	copy number loss	See cases [RCV000143197]	Chr13:19671934..24985872 [GRCh38] Chr13:20246074..25560010 [GRCh37] Chr13:19144074..24458010 [NCBI36] Chr13:13q12.11-12.13	pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	copy number gain	See cases [RCV000143462]	Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	See cases [RCV000148126]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	copy number gain	See cases [RCV000240150]	Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:21728320-21742457)x3	copy number gain	See cases [RCV000449351]	Chr13:21728320..21742457 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	copy number gain	See cases [RCV000449142]	Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:20523271-21972234)x1	copy number loss	See cases [RCV000447580]	Chr13:20523271..21972234 [GRCh37] Chr13:13q12.11	likely pathogenic
GRCh37/hg19 13q12.11(chr13:21728320-21753176)x1	copy number loss	See cases [RCV000447456]	Chr13:21728320..21753176 [GRCh37] Chr13:13q12.11	likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	See cases [RCV000445886]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:21721135-21742457)x1	copy number loss	See cases [RCV000448639]	Chr13:21721135..21742457 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21728320-21751682)x1	copy number loss	See cases [RCV000448915]	Chr13:21728320..21751682 [GRCh37] Chr13:13q12.11	likely benign
GRCh37/hg19 13q11-34(chr13:19436287-115107733)	copy number gain	See cases [RCV000510405]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	copy number gain	See cases [RCV000511880]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
NM_145061.6(SKA3):c.1174C>A (p.Pro392Thr)	single nucleotide variant	not specified [RCV004330754]	Chr13:21155757 [GRCh38] Chr13:21729896 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.384T>G (p.Asn128Lys)	single nucleotide variant	not specified [RCV004320633]	Chr13:21168347 [GRCh38] Chr13:21742486 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:21547909-21759494)x3	copy number gain	not provided [RCV000683500]	Chr13:21547909..21759494 [GRCh37] Chr13:13q12.11	likely benign
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1	copy number loss	not provided [RCV000683544]	Chr13:20605484..21759494 [GRCh37] Chr13:13q12.11	likely pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	copy number loss	not provided [RCV000683564]	Chr13:20008480..25534121 [GRCh37] Chr13:13q12.11-12.13	pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	copy number gain	not provided [RCV000683572]	Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1	pathogenic
NM_145061.6(SKA3):c.38C>A (p.Ser13Tyr)	single nucleotide variant	not specified [RCV004669965]	Chr13:21176440 [GRCh38] Chr13:21750579 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3	copy number gain	not provided [RCV000738115]	Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:21723281-21729064)x3	copy number gain	not provided [RCV000738136]	Chr13:21723281..21729064 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21727842-21729226)x3	copy number gain	not provided [RCV000738137]	Chr13:21727842..21729226 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21727842-21729267)x3	copy number gain	not provided [RCV000738138]	Chr13:21727842..21729267 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21727842-21729452)x3	copy number gain	not provided [RCV000738139]	Chr13:21727842..21729452 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21727842-21732094)x3	copy number gain	not provided [RCV000738140]	Chr13:21727842..21732094 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21728012-21732348)x3	copy number gain	not provided [RCV000738141]	Chr13:21728012..21732348 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21728134-21746637)x3	copy number gain	not provided [RCV000738142]	Chr13:21728134..21746637 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21728320-21732094)x3	copy number gain	not provided [RCV000738143]	Chr13:21728320..21732094 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q12.11(chr13:21728483-21732094)x3	copy number gain	not provided [RCV000738144]	Chr13:21728483..21732094 [GRCh37] Chr13:13q12.11	benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3	copy number gain	not provided [RCV000750643]	Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:19540031-22849981)	copy number loss	not provided [RCV000767820]	Chr13:19540031..22849981 [GRCh37] Chr13:13q12.11	likely pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	copy number gain	not provided [RCV000847640]	Chr13:20069228..27474401 [GRCh37] Chr13:13q12.11-12.13	pathogenic
GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1	copy number loss	not provided [RCV000847185]	Chr13:20562171..22993375 [GRCh37] Chr13:13q12.11	pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1	copy number loss	not provided [RCV000846015]	Chr13:19436286..23274540 [GRCh37] Chr13:13q11-12.11	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	not provided [RCV000849129]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1	copy number loss	not provided [RCV001006546]	Chr13:20668070..23029230 [GRCh37] Chr13:13q12.11	pathogenic
GRCh37/hg19 13q12.11(chr13:21555292-21759494)x3	copy number gain	not provided [RCV001006549]	Chr13:21555292..21759494 [GRCh37] Chr13:13q12.11	likely benign
GRCh37/hg19 13q12.11(chr13:21555292-21776649)x3	copy number gain	not provided [RCV001006550]	Chr13:21555292..21776649 [GRCh37] Chr13:13q12.11	likely benign
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	copy number loss	not provided [RCV001006544]	Chr13:19436286..24970361 [GRCh37] Chr13:13q11-12.12	pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	copy number gain	not provided [RCV002473574]	Chr13:19436287..22405375 [GRCh37] Chr13:13q11-12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:21683950-21963121)x3	copy number gain	not provided [RCV001260184]	Chr13:21683950..21963121 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:21555059-22772929)x3	copy number gain	not provided [RCV001260185]	Chr13:21555059..22772929 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	copy number gain	See cases [RCV001353184]	Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	copy number gain	See cases [RCV001780076]	Chr13:1..115169878 [GRCh37] Chr13:13p13-q34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)	copy number gain	not specified [RCV002053036]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726)	copy number gain	not specified [RCV002053035]	Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	not provided [RCV001834436]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)	copy number gain	Complete trisomy 13 syndrome [RCV002280659]	Chr13:1..115169878 [GRCh37] Chr13:13p13-q34	pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	copy number gain	not provided [RCV002291540]	Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:21683287-22009220)x3	copy number gain	not provided [RCV002472482]	Chr13:21683287..22009220 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.211G>C (p.Glu71Gln)	single nucleotide variant	not specified [RCV004083921]	Chr13:21172459 [GRCh38] Chr13:21746598 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.26G>A (p.Gly9Glu)	single nucleotide variant	not specified [RCV004115432]	Chr13:21176452 [GRCh38] Chr13:21750591 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	copy number loss	not provided [RCV002475689]	Chr13:19436287..22089005 [GRCh37] Chr13:13q11-12.11	pathogenic
NM_145061.6(SKA3):c.365A>G (p.Glu122Gly)	single nucleotide variant	not specified [RCV004192225]	Chr13:21168366 [GRCh38] Chr13:21742505 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.928T>C (p.Tyr310His)	single nucleotide variant	not specified [RCV004079615]	Chr13:21158113 [GRCh38] Chr13:21732252 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.63G>C (p.Glu21Asp)	single nucleotide variant	not specified [RCV004208226]	Chr13:21176415 [GRCh38] Chr13:21750554 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.545A>G (p.Tyr182Cys)	single nucleotide variant	not specified [RCV004245129]	Chr13:21168186 [GRCh38] Chr13:21742325 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.1177C>T (p.Pro393Ser)	single nucleotide variant	not specified [RCV004071216]	Chr13:21155754 [GRCh38] Chr13:21729893 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.657A>G (p.Lys219=)	single nucleotide variant	not provided [RCV003398329]	Chr13:21168074 [GRCh38] Chr13:21742213 [GRCh37] Chr13:13q12.11	likely benign
NM_145061.6(SKA3):c.271A>G (p.Met91Val)	single nucleotide variant	not specified [RCV004355874]	Chr13:21172399 [GRCh38] Chr13:21746538 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.1042A>T (p.Thr348Ser)	single nucleotide variant	not specified [RCV004334796]	Chr13:21157999 [GRCh38] Chr13:21732138 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:21525247-21769194)x3	copy number gain	not provided [RCV003484890]	Chr13:21525247..21769194 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	copy number gain	not provided [RCV004442747]	Chr13:19436287..36278224 [GRCh37] Chr13:13q11-13.3	uncertain significance
NM_145061.6(SKA3):c.461G>A (p.Arg154His)	single nucleotide variant	not specified [RCV004455993]	Chr13:21168270 [GRCh38] Chr13:21742409 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.305A>G (p.Tyr102Cys)	single nucleotide variant	not specified [RCV004455992]	Chr13:21172365 [GRCh38] Chr13:21746504 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.863C>A (p.Thr288Lys)	single nucleotide variant	not specified [RCV004455995]	Chr13:21159954 [GRCh38] Chr13:21734093 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.986C>T (p.Ser329Leu)	single nucleotide variant	not specified [RCV004455997]	Chr13:21158055 [GRCh38] Chr13:21732194 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.514C>G (p.Leu172Val)	single nucleotide variant	not specified [RCV004455994]	Chr13:21168217 [GRCh38] Chr13:21742356 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.916G>A (p.Val306Ile)	single nucleotide variant	not specified [RCV004455996]	Chr13:21158125 [GRCh38] Chr13:21732264 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.911C>T (p.Ala304Val)	single nucleotide variant	not specified [RCV004669966]	Chr13:21159906 [GRCh38] Chr13:21734045 [GRCh37] Chr13:13q12.11	uncertain significance
NC_000013.10:g.(?_20472281)_(24052335_?)del	deletion	not provided [RCV004578334]	Chr13:20472281..24052335 [GRCh37] Chr13:13q12.11-12.12	pathogenic
GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3	copy number gain	not provided [RCV004819310]	Chr13:19436287..92292639 [GRCh37] Chr13:13q11-31.3	pathogenic
NM_145061.6(SKA3):c.673A>G (p.Ile225Val)	single nucleotide variant	not specified [RCV004864445]	Chr13:21168058 [GRCh38] Chr13:21742197 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.1064T>G (p.Leu355Arg)	single nucleotide variant	not specified [RCV004864442]	Chr13:21157977 [GRCh38] Chr13:21732116 [GRCh37] Chr13:13q12.11	uncertain significance
NM_145061.6(SKA3):c.630G>A (p.Met210Ile)	single nucleotide variant	not specified [RCV004864443]	Chr13:21168101 [GRCh38] Chr13:21742240 [GRCh37] Chr13:13q12.11	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2554
Count of miRNA genes:	758
Interacting mature miRNAs:	857
Transcripts:	ENST00000298260, ENST00000314759, ENST00000400018, ENST00000462482, ENST00000465471, ENST00000475251, ENST00000536239
Prediction methods:	Miranda, Rnahybrid
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

RH93582

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	21,738,897 - 21,739,016	UniSTS	GRCh37
Build 36	13	20,636,897 - 20,637,016	RGD	NCBI36
Celera	13	2,800,564 - 2,800,683	RGD
Cytogenetic Map	13	q12.11	UniSTS
HuRef	13	2,540,026 - 2,540,145	UniSTS
GeneMap99-GB4 RH Map	13	44.53	UniSTS

STS-T26585

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	21,751,307 - 21,751,427	UniSTS	GRCh37
GRCh37	13	21,751,312 - 21,751,440	UniSTS	GRCh37
Build 36	13	20,649,312 - 20,649,440	RGD	NCBI36
Celera	13	2,812,970 - 2,813,098	RGD
Celera	13	2,812,965 - 2,813,085	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
HuRef	13	2,552,433 - 2,552,561	UniSTS
HuRef	13	2,552,428 - 2,552,548	UniSTS
GeneMap99-GB4 RH Map	13	46.75	UniSTS
NCBI RH Map	13	113.9	UniSTS

STS-T26585

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	13	q12.11	UniSTS
GeneMap99-GB4 RH Map	13	46.53	UniSTS
NCBI RH Map	13	113.9	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1162	2294	2640	2040	4927	1640	2276	6	591	1910	435	2240	6918	6105	53	3666	1	834	1697	1582	172	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001166017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_145061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005266288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011534994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF361358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK090584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL158032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC048988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI460315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000298260 ⟹ ENSP00000298260

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	21,153,595 - 21,176,548 (-)	Ensembl

Ensembl Acc Id:

ENST00000314759 ⟹ ENSP00000319417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	21,153,595 - 21,176,552 (-)	Ensembl

Ensembl Acc Id:

ENST00000400018 ⟹ ENSP00000382896

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	21,153,595 - 21,176,547 (-)	Ensembl

Ensembl Acc Id:

ENST00000462482 ⟹ ENSP00000443543

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	21,154,697 - 21,176,551 (-)	Ensembl

Ensembl Acc Id:

ENST00000465471 ⟹ ENSP00000441632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	21,161,790 - 21,176,551 (-)	Ensembl

Ensembl Acc Id:

ENST00000475251

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	21,172,269 - 21,176,473 (-)	Ensembl

Ensembl Acc Id:

ENST00000536239

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	21,168,222 - 21,172,713 (-)	Ensembl

RefSeq Acc Id:

NM_001166017 ⟹ NP_001159489

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	21,153,595 - 21,176,552 (-)	NCBI
GRCh37	13	21,727,734 - 21,750,741 (-)	RGD
Celera	13	2,789,717 - 2,812,399 (-)	RGD
HuRef	13	2,529,177 - 2,551,862 (-)	RGD
CHM1_1	13	21,695,750 - 21,718,428 (-)	NCBI
T2T-CHM13v2.0	13	20,346,668 - 20,369,632 (-)	NCBI

Sequence:

show sequence

AAACTAGTGGCGGGAGGCTGTGAGCTGAGCGGTGGGGTCTGCGTACGCCTGGAGTCCTTCCCCG
CTGTGCTCAGCATGGACCCTATCCGGAGCTTCTGCGGGAAGCTGCGGTCTCTGGCCAGCACGCT
GGACTGCGAGACGGCCCGGCTGCAGCGAGCGCTGGACGGAGAGGAAAGCGACTTTGAAGATTAT
CCAATGAGAATTTTATATGACCTTCATTCAGAAGTTCAGACTCTAAAGGATGATGTTAATATTC
TTCTTGATAAAGCAAGATTGGAAAATCAAGAAGGCATTGATTTCATAAAGGCAACAAAAGTACT
AATGGAAAAAAATTCAATGGATATTATGAAAATAAGAGAGTATTTCCAGAAGTATGGATATAGT
CCACGTGTCAAGAAAAATTCAGTACACGAGCAAGAAGCCATTAACTCTGACCCAGAGTTGTCTA
ATTGTGAAAATTTTCAGAAGACTGATGTGAAAGATGATCTGTCTGATCCTCCTGTTGCAAGCAG
TTGTATTTCTGAGAAGTCTCCACGTAGTCCACAACTTTCAGATTTTGGACTTGAGCGGTACATC
GTATCCCAAGTTCTACCAAACCCTCCACAGGCAGTGAACAACTATAAGGAAGAGCCCGTAATTG
TAACCCCACCTACCAAACAATCACTAGTAAAAGTACTAAAAACTCCAAAATGTGCACTAAAAAT
GGATGATTTTGAGTGTGTAACTCCTAAATTAGAACACTTTGGTATCTCTGAATATACTATGTGT
TTAAATGAAGATTACACAATGGGACTTAAAAATGCGAGGAATAATAAAAGTGAGGAGGCCATAG
ATACAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGA
AAAAAGTGATGCCGAATATACCAACTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAA
ATTCCATCTACAAAGAACAGCATAGCTTTGGTATCCACAAATTACCCATTATCAAAAACAAATA
GTTCATCAAATGATTTGGAAGTTGAAGATCGTACTTCGTTGGTTTTAAATTCAGACACATGCTT
TGAGAATTTAACAGATCCCTCTTCACCTACGATTTCTTCTTATGAGAATCTGCTCAGAACACCT
ACACCTCCGGAAGTAACTAAAATTCCAGAAGATATTCTCCAGAAATTCCAGTGGATCTATCCAA
CACAGAAACTGAACAAAATGAGATGAAAGCCGAGCTGGACCGATTTTAACATTCACATTGCCCT
GCCTCTGTCCCCCTTTAAACGTTGACCCATTTTAAAGACAAACATGAACATTAACATCATAATA
TGCTTTTTATGAAGTTTCAATAAGGTTTAACCTTAGTCTTGTTGACATGTAGCCCAGTCATTCA
CTCTTTAAGGATTATTAGTGTTTCATTGATACTAAATTACCCAGCTTAATCAACAGAATGGTTT
AAGTAGTACCAGGAAGTAGGACAAGTAATTTCAAAAATATAAAGGTGTTTGCTACTCAGATGAG
GCCGCCCCTGACCTTCTGGCCAGAGAGACATTGCTGCCAGCCAGCTCTGCCTTCCCATCATCTC
CTTTCAGGACCGTCCCACACCTTTTACTTGCTCAGTGCTGTCTGAAGATGCAGTTGCTGTTTGC
AAACAACAGGAACACCAGTTAAACTAATTAGGAAAAGAGGGAGATTTCCAGGCCTGGGTAACTA
TATACTGTGACCATTGGAGGTAGAGACAGGTCTCAACAGTTGGAACCAGGAACTCTGCTGTCAG
GTTGAGAGTTTTGTTTCTCTTCCAGCTTTTCACTGTGTGGGGGTCTTTTCTCTTATGTCAGCTC
TTTCTATCACATGGCAGCTGACCTCTCACGCTCCACTCTGCAGCTTGGACACCCAGTAGACCCT
GAATTTCACTCTCTCTAAAAGGTTCTGAGGGCTCATCCTGGGCCAGGGGCCCTCCTGTGCACTG
TTAGCTATGGCCACGGGAGCCTCCAGAGCTGCCTGGTAGCTTCAGGTTGACCTGCTTATCAGGC
CTACGATCCTTCTGATTTAAGTACAGCTGGAAAGTATTATCTAATTAAGTTCATGATAGTGCTT
TTGGAGAACTTGTCAAATTACAGCCAATGAGAAAATAAGGACCTAGCATACTGTGGAGAACCAT
TAAAAATTTGAGAAGAAACAACAAGTATTATGTCAACTTACTTCAAAGGCGTAGTTTTGGGAAT
TTGATGCAGTAAAGATTACCCTGTTTTATGATTGTTCCTTGAAAGTCAAATGGGGGACCTGTCC
ATTGTGCTCTATTAATCTTGTCAGAAAACTGTCACCAAAACAAAACTTGAGTTTGTCCTTGTTC
TAGGAGTTACTGGGTAGTTGTAAGTATTATTTTTATTAAATATAATGTAAAATAAAATGTTAAG
ATACTTAGTTTTGTTTTTCAAAGTAAAGCTGTAGTCAGCCTTATGTATGCCATTGACTCTGAAA
TGTATACCAGCCTTTCACTGTGTACCGTGTGTATATAAATCCACAGAACCGGATGAGCTGCTTA
GGGAGGGAATATATTCAAAGTGTACCAAGGACCAAATCCTGGAGTTCTCCCAACTTTAGAGGAT
GGAAAGGGGCAGAGTAATCTAGCAAAGGAGACTGAGGCCAGTGAAGTAGGAAGAAAGTATTTCA
AGGAGAGTGATGATTCTGTGAATATTGCTGAGAATTCAAATAAAAAGAGGACTGAGAACTGA

hide sequence

RefSeq Acc Id:

NM_145061 ⟹ NP_659498

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	21,153,595 - 21,176,552 (-)	NCBI
GRCh37	13	21,727,734 - 21,750,741 (-)	RGD
Build 36	13	20,625,734 - 20,648,710 (-)	NCBI Archive
Celera	13	2,789,717 - 2,812,399 (-)	RGD
HuRef	13	2,529,177 - 2,551,862 (-)	RGD
CHM1_1	13	21,695,750 - 21,718,428 (-)	NCBI
T2T-CHM13v2.0	13	20,346,668 - 20,369,632 (-)	NCBI

Sequence:

show sequence

AAACTAGTGGCGGGAGGCTGTGAGCTGAGCGGTGGGGTCTGCGTACGCCTGGAGTCCTTCCCCG
CTGTGCTCAGCATGGACCCTATCCGGAGCTTCTGCGGGAAGCTGCGGTCTCTGGCCAGCACGCT
GGACTGCGAGACGGCCCGGCTGCAGCGAGCGCTGGACGGAGAGGAAAGCGACTTTGAAGATTAT
CCAATGAGAATTTTATATGACCTTCATTCAGAAGTTCAGACTCTAAAGGATGATGTTAATATTC
TTCTTGATAAAGCAAGATTGGAAAATCAAGAAGGCATTGATTTCATAAAGGCAACAAAAGTACT
AATGGAAAAAAATTCAATGGATATTATGAAAATAAGAGAGTATTTCCAGAAGTATGGATATAGT
CCACGTGTCAAGAAAAATTCAGTACACGAGCAAGAAGCCATTAACTCTGACCCAGAGTTGTCTA
ATTGTGAAAATTTTCAGAAGACTGATGTGAAAGATGATCTGTCTGATCCTCCTGTTGCAAGCAG
TTGTATTTCTGAGAAGTCTCCACGTAGTCCACAACTTTCAGATTTTGGACTTGAGCGGTACATC
GTATCCCAAGTTCTACCAAACCCTCCACAGGCAGTGAACAACTATAAGGAAGAGCCCGTAATTG
TAACCCCACCTACCAAACAATCACTAGTAAAAGTACTAAAAACTCCAAAATGTGCACTAAAAAT
GGATGATTTTGAGTGTGTAACTCCTAAATTAGAACACTTTGGTATCTCTGAATATACTATGTGT
TTAAATGAAGATTACACAATGGGACTTAAAAATGCGAGGAATAATAAAAGTGAGGAGGCCATAG
ATACAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGA
AAAAAGTGATGCCGAATATACCAACTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAA
ATTCCATCTACAAAGAACAGCATAGCTTTGGTATCCACAAATTACCCATTATCAAAAACAAATA
GTTCATCAAATGATTTGGAAGTTGAAGATCGTACTTCGTTGGTTTTAAATTCAGACACATGCTT
TGAGAATTTAACAGATCCCTCTTCACCTACGATTTCTTCTTATGAGAATCTGCTCAGAACACCT
ACACCTCCGGAAGTAACTAAAATTCCAGAAGATATTCTCCAGCTTTTATCAAAATACAACTCAA
ACCTAGCTACTCCAATAGCAATTAAAGCAGTGCCACCCAGTAAAAGGTTCCTTAAACATGGACA
GAACATCCGAGATGTCAGCAACAAAGAAAACTGAAATTCCAGTGGATCTATCCAACACAGAAAC
TGAACAAAATGAGATGAAAGCCGAGCTGGACCGATTTTAACATTCACATTGCCCTGCCTCTGTC
CCCCTTTAAACGTTGACCCATTTTAAAGACAAACATGAACATTAACATCATAATATGCTTTTTA
TGAAGTTTCAATAAGGTTTAACCTTAGTCTTGTTGACATGTAGCCCAGTCATTCACTCTTTAAG
GATTATTAGTGTTTCATTGATACTAAATTACCCAGCTTAATCAACAGAATGGTTTAAGTAGTAC
CAGGAAGTAGGACAAGTAATTTCAAAAATATAAAGGTGTTTGCTACTCAGATGAGGCCGCCCCT
GACCTTCTGGCCAGAGAGACATTGCTGCCAGCCAGCTCTGCCTTCCCATCATCTCCTTTCAGGA
CCGTCCCACACCTTTTACTTGCTCAGTGCTGTCTGAAGATGCAGTTGCTGTTTGCAAACAACAG
GAACACCAGTTAAACTAATTAGGAAAAGAGGGAGATTTCCAGGCCTGGGTAACTATATACTGTG
ACCATTGGAGGTAGAGACAGGTCTCAACAGTTGGAACCAGGAACTCTGCTGTCAGGTTGAGAGT
TTTGTTTCTCTTCCAGCTTTTCACTGTGTGGGGGTCTTTTCTCTTATGTCAGCTCTTTCTATCA
CATGGCAGCTGACCTCTCACGCTCCACTCTGCAGCTTGGACACCCAGTAGACCCTGAATTTCAC
TCTCTCTAAAAGGTTCTGAGGGCTCATCCTGGGCCAGGGGCCCTCCTGTGCACTGTTAGCTATG
GCCACGGGAGCCTCCAGAGCTGCCTGGTAGCTTCAGGTTGACCTGCTTATCAGGCCTACGATCC
TTCTGATTTAAGTACAGCTGGAAAGTATTATCTAATTAAGTTCATGATAGTGCTTTTGGAGAAC
TTGTCAAATTACAGCCAATGAGAAAATAAGGACCTAGCATACTGTGGAGAACCATTAAAAATTT
GAGAAGAAACAACAAGTATTATGTCAACTTACTTCAAAGGCGTAGTTTTGGGAATTTGATGCAG
TAAAGATTACCCTGTTTTATGATTGTTCCTTGAAAGTCAAATGGGGGACCTGTCCATTGTGCTC
TATTAATCTTGTCAGAAAACTGTCACCAAAACAAAACTTGAGTTTGTCCTTGTTCTAGGAGTTA
CTGGGTAGTTGTAAGTATTATTTTTATTAAATATAATGTAAAATAAAATGTTAAGATACTTAGT
TTTGTTTTTCAAAGTAAAGCTGTAGTCAGCCTTATGTATGCCATTGACTCTGAAATGTATACCA
GCCTTTCACTGTGTACCGTGTGTATATAAATCCACAGAACCGGATGAGCTGCTTAGGGAGGGAA
TATATTCAAAGTGTACCAAGGACCAAATCCTGGAGTTCTCCCAACTTTAGAGGATGGAAAGGGG
CAGAGTAATCTAGCAAAGGAGACTGAGGCCAGTGAAGTAGGAAGAAAGTATTTCAAGGAGAGTG
ATGATTCTGTGAATATTGCTGAGAATTCAAATAAAAAGAGGACTGAGAACTGA

hide sequence

RefSeq Acc Id:

XM_005266288 ⟹ XP_005266345

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	21,153,595 - 21,176,552 (-)	NCBI
GRCh37	13	21,727,734 - 21,750,741 (-)	NCBI

Sequence:

show sequence

GGCGCCGAGATTCAAACTAGTGGCGGGAGGCTGTGAGCTGAGCGGTGGGGTCTGCGTACGCCTG
GAGTCCTTCCCCGCTGTGCTCAGCATGGACCCTATCCGGAGCTTCTGCGGGAAGCTGCGGTCTC
TGGCCAGCACGCTGGACTGCGAGACGGCCCGGCTGCAGCGAGCGCTGGACGGAGAGGAAAGCGG
ATGATGTTAATATTCTTCTTGATAAAGCAAGATTGGAAAATCAAGAAGGCATTGATTTCATAAA
GGCAACAAAAGTACTAATGGAAAAAAATTCAATGGATATTATGAAAATAAGAGAGTATTTCCAG
AAGTATGGATATAGTCCACGTGTCAAGAAAAATTCAGTACACGAGCAAGAAGCCATTAACTCTG
ACCCAGAGTTGTCTAATTGTGAAAATTTTCAGAAGACTGATGTGAAAGATGATCTGTCTGATCC
TCCTGTTGCAAGCAGTTGTATTTCTGAGAAGTCTCCACGTAGTCCACAACTTTCAGATTTTGGA
CTTGAGCGGTACATCGTATCCCAAGTTCTACCAAACCCTCCACAGGCAGTGAACAACTATAAGG
AAGAGCCCGTAATTGTAACCCCACCTACCAAACAATCACTAGTAAAAGTACTAAAAACTCCAAA
ATGTGCACTAAAAATGGATGATTTTGAGTGTGTAACTCCTAAATTAGAACACTTTGGTATCTCT
GAATATACTATGTGTTTAAATGAAGATTACACAATGGGACTTAAAAATGCGAGGAATAATAAAA
GTGAGGAGGCCATAGATACAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCAT
CATCCAGCAGTTGGAAAAAAGTGATGCCGAATATACCAACTCTCCTTTGGTACCTACATTCTGT
ACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTTGGTATCCACAAATTACCCAT
TATCAAAAACAAATAGTTCATCAAATGATTTGGAAGTTGAAGATCGTACTTCGTTGGTTTTAAA
TTCAGACACATGCTTTGAGAATTTAACAGATCCCTCTTCACCTACGATTTCTTCTTATGAGAAT
CTGCTCAGAACACCTACACCTCCGGAAGTAACTAAAATTCCAGAAGATATTCTCCAGCTTTTAT
CAAAATACAACTCAAACCTAGCTACTCCAATAGCAATTAAAGCAGTGCCACCCAGTAAAAGGTT
CCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTGAAATTCCAGTGGATCT
ATCCAACACAGAAACTGAACAAAATGAGATGAAAGCCGAGCTGGACCGATTTTAACATTCACAT
TGCCCTGCCTCTGTCCCCCTTTAAACGTTGACCCATTTTAAAGACAAACATGAACATTAACATC
ATAATATGCTTTTTATGAAGTTTCAATAAGGTTTAACCTTAGTCTTGTTGACATGTAGCCCAGT
CATTCACTCTTTAAGGATTATTAGTGTTTCATTGATACTAAATTACCCAGCTTAATCAACAGAA
TGGTTTAAGTAGTACCAGGAAGTAGGACAAGTAATTTCAAAAATATAAAGGTGTTTGCTACTCA
GATGAGGCCGCCCCTGACCTTCTGGCCAGAGAGACATTGCTGCCAGCCAGCTCTGCCTTCCCAT
CATCTCCTTTCAGGACCGTCCCACACCTTTTACTTGCTCAGTGCTGTCTGAAGATGCAGTTGCT
GTTTGCAAACAACAGGAACACCAGTTAAACTAATTAGGAAAAGAGGGAGATTTCCAGGCCTGGG
TAACTATATACTGTGACCATTGGAGGTAGAGACAGGTCTCAACAGTTGGAACCAGGAACTCTGC
TGTCAGGTTGAGAGTTTTGTTTCTCTTCCAGCTTTTCACTGTGTGGGGGTCTTTTCTCTTATGT
CAGCTCTTTCTATCACATGGCAGCTGACCTCTCACGCTCCACTCTGCAGCTTGGACACCCAGTA
GACCCTGAATTTCACTCTCTCTAAAAGGTTCTGAGGGCTCATCCTGGGCCAGGGGCCCTCCTGT
GCACTGTTAGCTATGGCCACGGGAGCCTCCAGAGCTGCCTGGTAGCTTCAGGTTGACCTGCTTA
TCAGGCCTACGATCCTTCTGATTTAAGTACAGCTGGAAAGTATTATCTAATTAAGTTCATGATA
GTGCTTTTGGAGAACTTGTCAAATTACAGCCAATGAGAAAATAAGGACCTAGCATACTGTGGAG
AACCATTAAAAATTTGAGAAGAAACAACAAGTATTATGTCAACTTACTTCAAAGGCGTAGTTTT
GGGAATTTGATGCAGTAAAGATTACCCTGTTTTATGATTGTTCCTTGAAAGTCAAATGGGGGAC
CTGTCCATTGTGCTCTATTAATCTTGTCAGAAAACTGTCACCAAAACAAAACTTGAGTTTGTCC
TTGTTCTAGGAGTTACTGGGTAGTTGTAAGTATTATTTTTATTAAATATAATGTAAAATAAAAT
GTTAAGATACTTAGTTTTGTTTTTCAAAGTAAAGCTGTAGTCAGCCTTATGTATGCCATTGACT
CTGAAATGTATACCAGCCTTTCACTGTGTACCGTGTGTATATAAATCCACAGAACCGGATGAGC
TGCTTAGGGAGGGAATATATTCAAAGTGTACCAAGGACCAAATCCTGGAGTTCTCCCAACTTTA
GAGGATGGAAAGGGGCAGAGTAATCTAGCAAAGGAGACTGAGGCCAGTGAAGTAGGAAGAAAGT
ATTTCAAGGAGAGTGATGATTCTGTGAATATTGCTGAGAATTCAAATAAAAAGAGGACTGAGAA
CTGA

hide sequence

RefSeq Acc Id:

XM_011534994 ⟹ XP_011533296

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	21,153,595 - 21,176,378 (-)	NCBI

Sequence:

show sequence

TGTGAGCTGAGCGGTGGGGTCTGCGTACGCCTGGAGTCCTTCCCCGCTGTGCTCAGCATGGACC
CTATCCGGAGCTTCTGCGGGAAGCTGCGGTCTCTGGCCAGCACGCTGGACTGCGAGACGGCCCG
GCTGCAGCGAGCGCTGGACGGAGAGGAAAGCGGTGCGTGAGGCGGGCGGCCAGGGCACGACTTT
GAAGATTATCCAATGAGAATTTTATATGACCTTCATTCAGAAGTTCAGACTCTAAAGGATGATG
TTAATATTCTTCTTGATAAAGCAAGATTGGAAAATCAAGAAGGCATTGATTTCATAAAGGCAAC
AAAAGTACTAATGGAAAAAAATTCAATGGATATTATGAAAATAAGAGAGTATTTCCAGAAGTAT
GGATATAGTCCACGTGTCAAGAAAAATTCAGTACACGAGCAAGAAGCCATTAACTCTGACCCAG
AGTTGTCTAATTGTGAAAATTTTCAGAAGACTGATGTGAAAGATGATCTGTCTGATCCTCCTGT
TGCAAGCAGTTGTATTTCTGAGAAGTCTCCACGTAGTCCACAACTTTCAGATTTTGGACTTGAG
CGGTACATCGTATCCCAAGTTCTACCAAACCCTCCACAGGCAGTGAACAACTATAAGGAAGAGC
CCGTAATTGTAACCCCACCTACCAAACAATCACTAGTAAAAGTACTAAAAACTCCAAAATGTGC
ACTAAAAATGGATGATTTTGAGTGTGTAACTCCTAAATTAGAACACTTTGGTATCTCTGAATAT
ACTATGTGTTTAAATGAAGATTACACAATGGGACTTAAAAATGCGAGGAATAATAAAAGTGAGG
AGGCCATAGATACAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCA
GCAGTTGGAAAAAAGTGATGCCGAATATACCAACTCTCCTTTGGTACCTACATTCTGTACTCCT
GGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTTGGTATCCACAAATTACCCATTATCAA
AAACAAATAGTTCATCAAATGATTTGGAAGTTGAAGATCGTACTTCGTTGGTTTTAAATTCAGA
CACATGCTTTGAGAATTTAACAGATCCCTCTTCACCTACGATTTCTTCTTATGAGAATCTGCTC
AGAACACCTACACCTCCGGAAGTAACTAAAATTCCAGAAGATATTCTCCAGCTTTTATCAAAAT
ACAACTCAAACCTAGCTACTCCAATAGCAATTAAAGCAGTGCCACCCAGTAAAAGGTTCCTTAA
ACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTGAAATTCCAGTGGATCTATCCAA
CACAGAAACTGAACAAAATGAGATGAAAGCCGAGCTGGACCGATTTTAACATTCACATTGCCCT
GCCTCTGTCCCCCTTTAAACGTTGACCCATTTTAAAGACAAACATGAACATTAACATCATAATA
TGCTTTTTATGAAGTTTCAATAAGGTTTAACCTTAGTCTTGTTGACATGTAGCCCAGTCATTCA
CTCTTTAAGGATTATTAGTGTTTCATTGATACTAAATTACCCAGCTTAATCAACAGAATGGTTT
AAGTAGTACCAGGAAGTAGGACAAGTAATTTCAAAAATATAAAGGTGTTTGCTACTCAGATGAG
GCCGCCCCTGACCTTCTGGCCAGAGAGACATTGCTGCCAGCCAGCTCTGCCTTCCCATCATCTC
CTTTCAGGACCGTCCCACACCTTTTACTTGCTCAGTGCTGTCTGAAGATGCAGTTGCTGTTTGC
AAACAACAGGAACACCAGTTAAACTAATTAGGAAAAGAGGGAGATTTCCAGGCCTGGGTAACTA
TATACTGTGACCATTGGAGGTAGAGACAGGTCTCAACAGTTGGAACCAGGAACTCTGCTGTCAG
GTTGAGAGTTTTGTTTCTCTTCCAGCTTTTCACTGTGTGGGGGTCTTTTCTCTTATGTCAGCTC
TTTCTATCACATGGCAGCTGACCTCTCACGCTCCACTCTGCAGCTTGGACACCCAGTAGACCCT
GAATTTCACTCTCTCTAAAAGGTTCTGAGGGCTCATCCTGGGCCAGGGGCCCTCCTGTGCACTG
TTAGCTATGGCCACGGGAGCCTCCAGAGCTGCCTGGTAGCTTCAGGTTGACCTGCTTATCAGGC
CTACGATCCTTCTGATTTAAGTACAGCTGGAAAGTATTATCTAATTAAGTTCATGATAGTGCTT
TTGGAGAACTTGTCAAATTACAGCCAATGAGAAAATAAGGACCTAGCATACTGTGGAGAACCAT
TAAAAATTTGAGAAGAAACAACAAGTATTATGTCAACTTACTTCAAAGGCGTAGTTTTGGGAAT
TTGATGCAGTAAAGATTACCCTGTTTTATGATTGTTCCTTGAAAGTCAAATGGGGGACCTGTCC
ATTGTGCTCTATTAATCTTGTCAGAAAACTGTCACCAAAACAAAACTTGAGTTTGTCCTTGTTC
TAGGAGTTACTGGGTAGTTGTAAGTATTATTTTTATTAAATATAATGTAAAATAAAATGTTAAG
ATACTTAGTTTTGTTTTTCAAAGTAAAGCTGTAGTCAGCCTTATGTATGCCATTGACTCTGAAA
TGTATACCAGCCTTTCACTGTGTACCGTGTGTATATAAATCCACAGAACCGGATGAGCTGCTTA
GGGAGGGAATATATTCAAAGTGTACCAAGGACCAAATCCTGGAGTTCTCCCAACTTTAGAGGAT
GGAAAGGGGCAGAGTAATCTAGCAAAGGAGACTGAGGCCAGTGAAGTAGGAAGAAAGTATTTCA
AGGAGAGTGATGATTCTGTGAATATTGCTGAGAATTCAAATAAAAAGAGGACTGAGAACTGA

hide sequence

RefSeq Acc Id:

XM_054374206 ⟹ XP_054230181

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	20,346,668 - 20,369,485 (-)	NCBI

RefSeq Acc Id:

XM_054374207 ⟹ XP_054230182

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	20,346,668 - 20,369,632 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001159489	(Get FASTA)	NCBI Sequence Viewer
	NP_659498	(Get FASTA)	NCBI Sequence Viewer
	XP_005266345	(Get FASTA)	NCBI Sequence Viewer
	XP_011533296	(Get FASTA)	NCBI Sequence Viewer
	XP_054230181	(Get FASTA)	NCBI Sequence Viewer
	XP_054230182	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH13418	(Get FASTA)	NCBI Sequence Viewer
	AAH48988	(Get FASTA)	NCBI Sequence Viewer
	AAO13796	(Get FASTA)	NCBI Sequence Viewer
	BAC03484	(Get FASTA)	NCBI Sequence Viewer
	BAG37379	(Get FASTA)	NCBI Sequence Viewer
	EAX08293	(Get FASTA)	NCBI Sequence Viewer
	EAX08294	(Get FASTA)	NCBI Sequence Viewer
	EAX08295	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000298260.4
	ENSP00000319417
	ENSP00000319417.5
	ENSP00000382896
	ENSP00000382896.3
	ENSP00000441632.1
	ENSP00000443543.1
GenBank Protein	Q8IX90	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_659498 ⟸ NM_145061
- Peptide Label:	isoform 1
- UniProtKB:	Q8NBG1 (UniProtKB/Swiss-Prot), Q86WR2 (UniProtKB/Swiss-Prot), Q5VZV5 (UniProtKB/Swiss-Prot), B2RBY2 (UniProtKB/Swiss-Prot), A2A331 (UniProtKB/Swiss-Prot), A2A330 (UniProtKB/Swiss-Prot), Q96D22 (UniProtKB/Swiss-Prot), Q8IX90 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDPIRSFCGKLRSLASTLDCETARLQRALDGEESDFEDYPMRILYDLHSEVQTLKDDVNILLDK ARLENQEGIDFIKATKVLMEKNSMDIMKIREYFQKYGYSPRVKKNSVHEQEAINSDPELSNCEN FQKTDVKDDLSDPPVASSCISEKSPRSPQLSDFGLERYIVSQVLPNPPQAVNNYKEEPVIVTPP TKQSLVKVLKTPKCALKMDDFECVTPKLEHFGISEYTMCLNEDYTMGLKNARNNKSEEAIDTES RLNDNVFATPSPIIQQLEKSDAEYTNSPLVPTFCTPGLKIPSTKNSIALVSTNYPLSKTNSSSN DLEVEDRTSLVLNSDTCFENLTDPSSPTISSYENLLRTPTPPEVTKIPEDILQLLSKYNSNLAT PIAIKAVPPSKRFLKHGQNIRDVSNKEN hide sequence

RefSeq Acc Id:	NP_001159489 ⟸ NM_001166017
- Peptide Label:	isoform 2
- UniProtKB:	Q8IX90 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDPIRSFCGKLRSLASTLDCETARLQRALDGEESDFEDYPMRILYDLHSEVQTLKDDVNILLDK ARLENQEGIDFIKATKVLMEKNSMDIMKIREYFQKYGYSPRVKKNSVHEQEAINSDPELSNCEN FQKTDVKDDLSDPPVASSCISEKSPRSPQLSDFGLERYIVSQVLPNPPQAVNNYKEEPVIVTPP TKQSLVKVLKTPKCALKMDDFECVTPKLEHFGISEYTMCLNEDYTMGLKNARNNKSEEAIDTES RLNDNVFATPSPIIQQLEKSDAEYTNSPLVPTFCTPGLKIPSTKNSIALVSTNYPLSKTNSSSN DLEVEDRTSLVLNSDTCFENLTDPSSPTISSYENLLRTPTPPEVTKIPEDILQKFQWIYPTQKL NKMR hide sequence

RefSeq Acc Id:	XP_005266345 ⟸ XM_005266288
- Peptide Label:	isoform X2
- UniProtKB:	Q8IX90 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEKNSMDIMKIREYFQKYGYSPRVKKNSVHEQEAINSDPELSNCENFQKTDVKDDLSDPPVASS CISEKSPRSPQLSDFGLERYIVSQVLPNPPQAVNNYKEEPVIVTPPTKQSLVKVLKTPKCALKM DDFECVTPKLEHFGISEYTMCLNEDYTMGLKNARNNKSEEAIDTESRLNDNVFATPSPIIQQLE KSDAEYTNSPLVPTFCTPGLKIPSTKNSIALVSTNYPLSKTNSSSNDLEVEDRTSLVLNSDTCF ENLTDPSSPTISSYENLLRTPTPPEVTKIPEDILQLLSKYNSNLATPIAIKAVPPSKRFLKHGQ NIRDVSNKEN hide sequence

RefSeq Acc Id:

XP_011533296 ⟸ XM_011534994

- Peptide Label:

isoform X1

- Sequence:

show sequence

MRILYDLHSEVQTLKDDVNILLDKARLENQEGIDFIKATKVLMEKNSMDIMKIREYFQKYGYSP
RVKKNSVHEQEAINSDPELSNCENFQKTDVKDDLSDPPVASSCISEKSPRSPQLSDFGLERYIV
SQVLPNPPQAVNNYKEEPVIVTPPTKQSLVKVLKTPKCALKMDDFECVTPKLEHFGISEYTMCL
NEDYTMGLKNARNNKSEEAIDTESRLNDNVFATPSPIIQQLEKSDAEYTNSPLVPTFCTPGLKI
PSTKNSIALVSTNYPLSKTNSSSNDLEVEDRTSLVLNSDTCFENLTDPSSPTISSYENLLRTPT
PPEVTKIPEDILQLLSKYNSNLATPIAIKAVPPSKRFLKHGQNIRDVSNKEN

hide sequence

Ensembl Acc Id:

ENSP00000441632 ⟸ ENST00000465471

Ensembl Acc Id:

ENSP00000382896 ⟸ ENST00000400018

Ensembl Acc Id:

ENSP00000298260 ⟸ ENST00000298260

Ensembl Acc Id:

ENSP00000319417 ⟸ ENST00000314759

Ensembl Acc Id:

ENSP00000443543 ⟸ ENST00000462482

RefSeq Acc Id:	XP_054230182 ⟸ XM_054374207
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054230181 ⟸ XM_054374206
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IX90-F1-model_v2	AlphaFold	Q8IX90	1-412	view protein structure

Promoters

RGD ID:

6790769

Promoter ID:

HG_KWN:17226

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:

ENST00000314759, ENST00000400018, OTTHUMT00000044105, OTTHUMT00000044118, OTTHUMT00000044119, OTTHUMT00000044120, UC001UNV.1, UC009ZZT.1, UC009ZZU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	13	20,648,581 - 20,649,081 (-)	MPROMDB

RGD ID:

7225995

Promoter ID:

EPDNEW_H18743

Type:

initiation region

Name:

SKA3_1

Description:

spindle and kinetochore associated complex subunit 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H18747

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	21,176,547 - 21,176,607	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20262	AgrOrtholog
COSMIC	SKA3	COSMIC
Ensembl Genes	ENSG00000165480	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000298260.8	UniProtKB/Swiss-Prot
	ENST00000314759	ENTREZGENE
	ENST00000314759.6	UniProtKB/Swiss-Prot
	ENST00000400018	ENTREZGENE
	ENST00000400018.7	UniProtKB/Swiss-Prot
	ENST00000462482.1	UniProtKB/TrEMBL
	ENST00000465471.5	UniProtKB/TrEMBL
Gene3D-CATH	6.10.250.1400	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000165480	GTEx
HGNC ID	HGNC:20262	ENTREZGENE
Human Proteome Map	SKA3	Human Proteome Map
InterPro	SKA3	UniProtKB/Swiss-Prot
KEGG Report	hsa:221150	UniProtKB/Swiss-Prot
NCBI Gene	221150	ENTREZGENE
OMIM	619247	OMIM
PANTHER	PTHR48118	UniProtKB/Swiss-Prot
	SPINDLE AND KINETOCHORE-ASSOCIATED PROTEIN 3	UniProtKB/Swiss-Prot
PharmGKB	PA165505498	PharmGKB
UniProt	A2A330	ENTREZGENE
	A2A331	ENTREZGENE
	B2RBY2	ENTREZGENE
	F5GWG1_HUMAN	UniProtKB/TrEMBL
	F5H8H7_HUMAN	UniProtKB/TrEMBL
	Q5VZV5	ENTREZGENE
	Q86WR2	ENTREZGENE
	Q8IX90	ENTREZGENE
	Q8NBG1	ENTREZGENE
	Q96D22	ENTREZGENE
	SKA3_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A2A330	UniProtKB/Swiss-Prot
	A2A331	UniProtKB/Swiss-Prot
	B2RBY2	UniProtKB/Swiss-Prot
	Q5VZV5	UniProtKB/Swiss-Prot
	Q86WR2	UniProtKB/Swiss-Prot
	Q8NBG1	UniProtKB/Swiss-Prot
	Q96D22	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)

Send us a Message

Imported Disease Annotations - CTD