TUBGCP3 (tubulin gamma complex component 3)

Gene: TUBGCP3 (tubulin gamma complex component 3) Homo sapiens

Analyze

Symbol:

TUBGCP3

Name:

tubulin gamma complex component 3 (Ensembl:tubulin gamma complex associated protein 3)

RGD ID:

1313927

HGNC Page

HGNC:18598

Description:

Enables gamma-tubulin binding activity. Predicted to be involved in meiotic cell cycle; microtubule cytoskeleton organization; and mitotic cell cycle. Located in cytoplasm and microtubule cytoskeleton.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

104p; ALP6; gamma-ring complex protein 104 kDa; gamma-tubulin complex component 3; GCP-3; GCP3; Grip104; h104p; hGCP3; hGrip104; hSpc98; SPBC98; Spc98; Spc98p; spindle pole body protein Spc98 homolog; tubulin gamma complex associated protein 3; tubulin, gamma complex associated protein 3

RGD Orthologs

Alliance Genes

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):	Tubgcp3 (tubulin, gamma complex component 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tubgcp3 (tubulin gamma complex component 3)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Tubgcp3 (tubulin gamma complex component 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TUBGCP3 (tubulin gamma complex component 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	TUBGCP3 (tubulin gamma complex component 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tubgcp3 (tubulin gamma complex component 3)	NCBI	Ortholog
Sus scrofa (pig):	TUBGCP3 (tubulin gamma complex component 3)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TUBGCP3 (tubulin gamma complex component 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tubgcp3 (tubulin gamma complex component 3)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Sertm1 (serine-rich and transmembrane domain containing 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tubgcp3 (tubulin gamma complex component 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tubgcp3 (tubulin, gamma complex component 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tubgcp3 (tubulin, gamma complex associated protein 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Grip91	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	SPC98	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tubgcp3.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tubgcp3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tubgcp3.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	13	112,485,011 - 112,605,630 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	112,485,011 - 112,588,205 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	113,139,325 - 113,242,467 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	112,187,326 - 112,290,482 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	112,187,328 - 112,290,482	NCBI
Celera	13	93,964,643 - 94,067,798 (-)	NCBI		Celera
Cytogenetic Map	13	q34	NCBI
HuRef	13	93,580,931 - 93,683,836 (-)	NCBI		HuRef
CHM1_1	13	113,105,134 - 113,211,498 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	111,732,118 - 111,854,172 (-)	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

factor X deficiency (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

2-palmitoylglycerol (EXP)

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

avobenzone (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

choline (ISO)

clothianidin (EXP)

cycloheximide (EXP)

cyclosporin A (EXP,ISO)

dimethylarsinous acid (EXP)

dorsomorphin (EXP)

ethanol (ISO)

flutamide (ISO)

folic acid (ISO)

furan (ISO)

indometacin (EXP)

ivermectin (EXP)

L-methionine (ISO)

lead(0) (EXP)

methapyrilene (EXP)

methoxychlor (ISO)

methylmercury chloride (EXP)

N-acetyl-beta-D-glucosamine (EXP)

N-acetyl-D-glucosamine (EXP)

oxaliplatin (ISO)

paracetamol (EXP)

phenylmercury acetate (EXP)

quercetin (EXP)

resveratrol (EXP)

rotenone (ISO)

SB 431542 (EXP)

sunitinib (EXP)

tert-butyl hydroperoxide (EXP)

tetraphene (ISO)

thimerosal (EXP)

titanium dioxide (ISO)

topotecan (EXP,ISO)

tributylstannane (ISO)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cytoplasmic microtubule organization (IBA,IEA)

meiotic cell cycle (IBA,IEA)

microtubule nucleation (IBA,IEA,NAS)

mitotic cell cycle (IBA,IEA)

single fertilization (NAS)

spindle assembly (IBA,IEA)

Cellular Component

centriole (IDA)

centrosome (IBA,IDA,IEA,NAS)

cytoplasm (IDA,IEA)

cytoskeleton (IEA)

cytosol (TAS)

equatorial microtubule organizing center (IBA,IEA)

gamma-tubulin complex (IBA,IEA)

membrane (HDA)

microtubule (IEA)

microtubule organizing center (IEA)

polar microtubule (IDA)

spindle (NAS)

spindle pole (IEA)

Molecular Function

gamma-tubulin binding (IBA,IDA,IEA)

microtubule minus-end binding (IBA,IEA)

protein binding (IPI)

structural constituent of cytoskeleton (NAS)

structural molecule activity (NAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Reduced factor X activity (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:7876350	PMID:8838651	PMID:9138452	PMID:9566967	PMID:9566969	PMID:11694571	PMID:11956313	PMID:12221128	PMID:12477932	PMID:15057823	PMID:15342556	PMID:15489334
PMID:17959831	PMID:19299467	PMID:19322201	PMID:19531213	PMID:19615732	PMID:19786618	PMID:19946888	PMID:20360068	PMID:20379614	PMID:20467437	PMID:20858683	PMID:21135143
PMID:21399614	PMID:21873635	PMID:21900206	PMID:22658674	PMID:23414517	PMID:23443559	PMID:23886939	PMID:24163370	PMID:24509916	PMID:24981860	PMID:25921289	PMID:26079448
PMID:26186194	PMID:26344197	PMID:26496610	PMID:26638075	PMID:26673895	PMID:26687479	PMID:26760575	PMID:26972000	PMID:28514442	PMID:28561026	PMID:28700943	PMID:28712289
PMID:28851027	PMID:29162697	PMID:29467282	PMID:29568061	PMID:29778605	PMID:30033366	PMID:30737378	PMID:31091453	PMID:31240132	PMID:31753913	PMID:31980649	PMID:32353859
PMID:32707033	PMID:33060197	PMID:33239621	PMID:33462405	PMID:33766124	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34515875	PMID:35241646	PMID:35256949
PMID:35271311	PMID:35439318	PMID:35509820	PMID:35563538	PMID:35850772	PMID:35944360	PMID:36114006	PMID:36180527	PMID:36215168	PMID:36244648	PMID:37689310	PMID:37827155
PMID:38113892

Genomics

Comparative Map Data

TUBGCP3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	112,485,011 - 112,605,630 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	112,485,011 - 112,588,205 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	113,139,325 - 113,242,467 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	112,187,326 - 112,290,482 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	112,187,328 - 112,290,482	NCBI
Celera	13	93,964,643 - 94,067,798 (-)	NCBI		Celera
Cytogenetic Map	13	q34	NCBI
HuRef	13	93,580,931 - 93,683,836 (-)	NCBI		HuRef
CHM1_1	13	113,105,134 - 113,211,498 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	111,732,118 - 111,854,172 (-)	NCBI		T2T-CHM13v2.0

Tubgcp3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	12,664,277 - 12,722,141 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	12,664,277 - 12,722,248 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	12,614,277 - 12,672,854 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	12,614,277 - 12,672,248 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	12,614,277 - 12,672,100 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	12,614,254 - 12,672,077 (-)	NCBI		MGSCv36	mm8
Celera	8	12,782,152 - 12,839,981 (-)	NCBI		Celera
Cytogenetic Map	8	A1.1	NCBI
cM Map	8	5.73	NCBI

Tubgcp3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	83,553,950 - 83,614,626 (+)	NCBI		GRCr8
mRatBN7.2	16	76,851,859 - 76,912,499 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	76,851,810 - 76,912,499 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	82,132,372 - 82,193,024 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	85,584,963 - 85,645,615 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	80,835,194 - 80,895,627 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	82,184,362 - 82,245,041 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	82,184,387 - 82,245,041 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	81,670,460 - 81,729,860 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	81,709,041 - 81,769,680 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	81,694,877 - 81,755,530 (+)	NCBI
Celera	16	74,657,945 - 74,716,595 (+)	NCBI		Celera
Cytogenetic Map	16	q12.5	NCBI

Tubgcp3
(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_004955404	969,027 - 1,031,250 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955404	969,027 - 1,027,229 (+)	NCBI	ChiLan1.0	ChiLan1.0

TUBGCP3
(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	113,976,107 - 114,079,938 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	13	112,661,492 - 112,764,169 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	13	93,614,417 - 93,716,589 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	13	112,702,519 - 112,801,429 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	13	112,702,519 - 112,801,429 (-)	Ensembl	panpan1.1		panPan2

TUBGCP3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	22	60,161,219 - 60,237,948 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	22	60,161,639 - 60,237,819 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	22	59,874,057 - 59,950,740 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	22	60,788,598 - 60,865,382 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	22	60,788,636 - 60,865,466 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	22	60,287,612 - 60,364,305 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	22	60,283,378 - 60,360,083 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	22	60,317,624 - 60,394,386 (-)	NCBI		UU_Cfam_GSD_1.0

Tubgcp3
(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	194,986,745 - 195,055,677 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936472	896,488 - 965,915 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936472	896,513 - 965,410 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TUBGCP3
(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	78,190,729 - 78,232,252 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	11	78,190,725 - 78,232,252 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	11	85,779,310 - 85,820,852 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TUBGCP3
(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	90,533,743 - 90,627,963 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	3	90,534,728 - 90,627,859 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666046	47,452,720 - 47,547,283 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tubgcp3
(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_004624793	1,066,697 - 1,123,038 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624793	1,066,746 - 1,123,944 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TUBGCP3
24 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]\|See cases [RCV000050921]	Chr13:107918132..114327173 [GRCh38] Chr13:108570480..115092648 [GRCh37] Chr13:13q33.3-34	pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	copy number loss	See cases [RCV000050922]	Chr13:107918132..114327173 [GRCh38] Chr13:108570480..115092648 [GRCh37] Chr13:107368481..114110750 [NCBI36] Chr13:13q33.3-34	pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	copy number loss	See cases [RCV000050540]	Chr13:108743171..114327173 [GRCh38] Chr13:109395519..115085141 [GRCh37] Chr13:108193520..114110750 [NCBI36] Chr13:13q33.3-34	pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	copy number loss	See cases [RCV000051448]	Chr13:104461586..114327173 [GRCh38] Chr13:105113936..115085141 [GRCh37] Chr13:103911937..114110750 [NCBI36] Chr13:13q33.2-34	pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	copy number loss	See cases [RCV000051449]	Chr13:104698508..114327173 [GRCh38] Chr13:105350859..115085141 [GRCh37] Chr13:104148860..114110750 [NCBI36] Chr13:13q33.2-34	pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1	copy number loss	See cases [RCV000051450]	Chr13:105571072..114327314 [GRCh38] Chr13:106223421..115085141 [GRCh37] Chr13:105021422..114110891 [NCBI36] Chr13:13q33.2-34	pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1	copy number loss	See cases [RCV000051452]	Chr13:107168805..114327314 [GRCh38] Chr13:107821153..115085141 [GRCh37] Chr13:106619154..114110891 [NCBI36] Chr13:13q33.3-34	pathogenic
GRCh38/hg38 13q34(chr13:111541166-113671678)x1	copy number loss	See cases [RCV000051453]	Chr13:111541166..113671678 [GRCh38] Chr13:112193513..114325993 [GRCh37] Chr13:110991514..113648401 [NCBI36] Chr13:13q34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]\|See cases [RCV000051380]	Chr13:82581008..114327173 [GRCh38] Chr13:83155143..115085141 [GRCh37] Chr13:82053144..114110750 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1	copy number loss	See cases [RCV000051418]	Chr13:91366227..114327314 [GRCh38] Chr13:92018481..115085141 [GRCh37] Chr13:90816482..114110891 [NCBI36] Chr13:13q31.3-34	pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]\|See cases [RCV000051421]	Chr13:101049614..114327314 [GRCh38] Chr13:101587036..115085141 [GRCh37] Chr13:100385037..114110891 [NCBI36] Chr13:13q32.3-34	pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	copy number loss	See cases [RCV000051422]	Chr13:101537045..114327173 [GRCh38] Chr13:102189396..115085141 [GRCh37] Chr13:100987397..114110750 [NCBI36] Chr13:13q33.1-34	pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	copy number loss	See cases [RCV000051423]	Chr13:102114025..114327173 [GRCh38] Chr13:102766375..115085141 [GRCh37] Chr13:101564376..114110750 [NCBI36] Chr13:13q33.1-34	pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	copy number loss	See cases [RCV000051180]	Chr13:106157165..114327173 [GRCh38] Chr13:106809514..115085141 [GRCh37] Chr13:105607515..114110750 [NCBI36] Chr13:13q33.2-34	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 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 13q11-34(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(chr13:18946182-114304628)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 13q13.2-34(chr13:33528097-114327173)x3	copy number gain	See cases [RCV000053759]	Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34	pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	copy number gain	See cases [RCV000053792]	Chr13:99472316..114293545 [GRCh38] Chr13:100124570..115059020 [GRCh37] Chr13:98922571..114077122 [NCBI36] Chr13:13q32.3-34	pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3	copy number gain	See cases [RCV000053762]	Chr13:43219125..114327314 [GRCh38] Chr13:43793261..115085141 [GRCh37] Chr13:42691261..114110891 [NCBI36] Chr13:13q14.11-34	pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	copy number gain	See cases [RCV000053795]	Chr13:100039860..114327173 [GRCh38] Chr13:100692114..115085141 [GRCh37] Chr13:99490115..114110750 [NCBI36] Chr13:13q32.3-34	pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]\|See cases [RCV000053797]	Chr13:109162657..114327314 [GRCh38] Chr13:109815005..115085141 [GRCh37] Chr13:108613006..114110891 [NCBI36] Chr13:13q33.3-34	pathogenic
GRCh38/hg38 13q34(chr13:111439396-114327173)x3	copy number gain	See cases [RCV000053798]	Chr13:111439396..114327173 [GRCh38] Chr13:112091743..115085141 [GRCh37] Chr13:110889744..114110750 [NCBI36] Chr13:13q34	pathogenic
GRCh38/hg38 13q34(chr13:112292922-113636272)x3	copy number gain	See cases [RCV000053800]	Chr13:112292922..113636272 [GRCh38] Chr13:112947236..114290587 [GRCh37] Chr13:111995237..113338588 [NCBI36] Chr13:13q34	pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	copy number gain	See cases [RCV000053764]	Chr13:44164751..114327173 [GRCh38] Chr13:44738887..115085141 [GRCh37] Chr13:43636887..114110750 [NCBI36] Chr13:13q14.11-34	pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	copy number gain	See cases [RCV000053767]	Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34	pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3	copy number gain	See cases [RCV000053770]	Chr13:74345951..114327314 [GRCh38] Chr13:74920088..115085141 [GRCh37] Chr13:73818089..114110891 [NCBI36] Chr13:13q22.1-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]\|See cases [RCV000053772]	Chr13:80628584..114327173 [GRCh38] Chr13:81202719..115085141 [GRCh37] Chr13:80100720..114110750 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3	copy number gain	See cases [RCV000050921]	Chr13:107918132..114327173 [GRCh38] Chr13:108570480..115085141 [GRCh37] Chr13:107368481..114110750 [NCBI36] Chr13:13q33.3-34	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 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 13q34(chr13:112505944-112884305)x3	copy number gain	See cases [RCV000137041]	Chr13:112505944..112884305 [GRCh38] Chr13:113105619..113538619 [GRCh37] Chr13:112153620..112586620 [NCBI36] Chr13:13q34	benign
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	copy number gain	See cases [RCV000137102]	Chr13:88937651..114327173 [GRCh38] Chr13:89589905..115085141 [GRCh37] Chr13:88387906..114110750 [NCBI36] Chr13:13q31.2-34	pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	copy number gain	See cases [RCV000136805]	Chr13:101868708..114293545 [GRCh38] Chr13:102521058..115059020 [GRCh37] Chr13:101319059..114077122 [NCBI36] Chr13:13q33.1-34	pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	copy number loss	See cases [RCV000137684]	Chr13:107075477..114340331 [GRCh38] Chr13:107727825..115085141 [GRCh37] Chr13:106525826..114123908 [NCBI36] Chr13:13q33.3-34	pathogenic
GRCh38/hg38 13q34(chr13:111118651-114340331)x3	copy number gain	See cases [RCV000137378]	Chr13:111118651..114340331 [GRCh38] Chr13:111770998..115085141 [GRCh37] Chr13:110568999..114123908 [NCBI36] Chr13:13q34	likely pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	copy number loss	See cases [RCV000137823]	Chr13:102883322..114340331 [GRCh38] Chr13:103535672..115085141 [GRCh37] Chr13:102333673..114123908 [NCBI36] Chr13:13q33.1-34	pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	copy number loss	See cases [RCV000137893]	Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34	pathogenic
GRCh38/hg38 13q34(chr13:111355741-114340331)x1	copy number loss	See cases [RCV000137957]	Chr13:111355741..114340331 [GRCh38] Chr13:112008088..115085141 [GRCh37] Chr13:110806089..114123908 [NCBI36] Chr13:13q34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	copy number gain	See cases [RCV000138742]	Chr13:78999318..114327106 [GRCh38] Chr13:79573453..115085141 [GRCh37] Chr13:78471454..114110683 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	copy number loss	See cases [RCV000138340]	Chr13:86788927..114340331 [GRCh38] Chr13:87441182..115085141 [GRCh37] Chr13:86239183..114123908 [NCBI36] Chr13:13q31.1-34	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 13q32.1-34(chr13:96745059-114327106)x3	copy number gain	See cases [RCV000139160]	Chr13:96745059..114327106 [GRCh38] Chr13:97397313..115085141 [GRCh37] Chr13:96195314..114110683 [NCBI36] Chr13:13q32.1-34	pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	copy number loss	See cases [RCV000140449]	Chr13:105861075..114342258 [GRCh38] Chr13:106513424..115107733 [GRCh37] Chr13:105311425..114125835 [NCBI36] Chr13:13q33.2-34	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 13q33.1-34(chr13:101762788-114340285)x3	copy number gain	See cases [RCV000141331]	Chr13:101762788..114340285 [GRCh38] Chr13:102415138..115105760 [GRCh37] Chr13:101213139..114123862 [NCBI36] Chr13:13q33.1-34	pathogenic
GRCh38/hg38 13q34(chr13:111200986-114340331)x1	copy number loss	See cases [RCV000141232]	Chr13:111200986..114340331 [GRCh38] Chr13:111853333..115085141 [GRCh37] Chr13:110651334..114123908 [NCBI36] Chr13:13q34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	copy number gain	See cases [RCV000141248]	Chr13:78964223..114340331 [GRCh38] Chr13:79538358..115085141 [GRCh37] Chr13:78436359..114123908 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	copy number gain	See cases [RCV000141804]	Chr13:83288131..114342258 [GRCh38] Chr13:83862266..115107733 [GRCh37] Chr13:82760267..114125835 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q34(chr13:110857896-114342258)x1	copy number loss	See cases [RCV000143102]	Chr13:110857896..114342258 [GRCh38] Chr13:111510243..115107733 [GRCh37] Chr13:110308244..114125835 [NCBI36] Chr13:13q34	pathogenic
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 13q33.2-34(chr13:104968135-114340331)x1	copy number loss	See cases [RCV000143330]	Chr13:104968135..114340331 [GRCh38] Chr13:105620486..115085141 [GRCh37] Chr13:104418487..114123908 [NCBI36] Chr13:13q33.2-34	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 13q33.2-34(chr13:105423935-114342258)x3	copy number gain	See cases [RCV000143556]	Chr13:105423935..114342258 [GRCh38] Chr13:106076284..115107733 [GRCh37] Chr13:104874285..114125835 [NCBI36] Chr13:13q33.2-34	uncertain significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	copy number loss	See cases [RCV000148262]	Chr13:107918132..114327173 [GRCh38] Chr13:108570480..115085141 [GRCh37] Chr13:107368481..114110750 [NCBI36] Chr13:13q33.3-34	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 13q31.2-34(chr13:89796110-115083342)x1	copy number loss	See cases [RCV000240161]	Chr13:89796110..115083342 [GRCh37] Chr13:13q31.2-34	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 13q11-34(chr13:19053605-115108528)x3	copy number gain	See cases [RCV001353184]	Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34	pathogenic
NM_006322.6(TUBGCP3):c.1097G>A (p.Arg366His)	single nucleotide variant	Inborn genetic diseases [RCV003268742]	Chr13:112547691 [GRCh38] Chr13:113202005 [GRCh37] Chr13:13q34	uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3	copy number gain	See cases [RCV000449118]	Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34	pathogenic
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 13q34(chr13:111282121-115107733)x1	copy number loss	See cases [RCV000447085]	Chr13:111282121..115107733 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3	copy number gain	See cases [RCV000447545]	Chr13:94269729..115107733 [GRCh37] Chr13:13q31.3-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:106941499-113674752)x3	copy number gain	See cases [RCV000447024]	Chr13:106941499..113674752 [GRCh37] Chr13:13q33.2-34	uncertain significance
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	copy number gain	See cases [RCV000447429]	Chr13:82221361..115092569 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1	copy number loss	See cases [RCV000447192]	Chr13:106450862..115107733 [GRCh37] Chr13:13q33.2-34	pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3	copy number gain	See cases [RCV000447642]	Chr13:101357397..115107733 [GRCh37] Chr13:13q32.3-34	pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	copy number gain	See cases [RCV000510722]	Chr13:56431743..115107733 [GRCh37] Chr13:13q21.1-34	pathogenic
GRCh37/hg19 13q34(chr13:111550457-115107733)x1	copy number loss	See cases [RCV000445865]	Chr13:111550457..115107733 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	See cases [RCV000445886]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q34(chr13:112091743-115092510)x1	copy number loss	See cases [RCV000448192]	Chr13:112091743..115092510 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1	copy number loss	See cases [RCV000448405]	Chr13:88073140..115107733 [GRCh37] Chr13:13q31.2-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1	copy number loss	See cases [RCV000448783]	Chr13:106056749..115107733 [GRCh37] Chr13:13q33.2-34	pathogenic
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1	copy number loss	See cases [RCV000512127]	Chr13:103170306..115107733 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1	copy number loss	See cases [RCV000512069]	Chr13:109151651..115107733 [GRCh37] Chr13:13q33.3-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)	copy number gain	See cases [RCV000510405]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	copy number loss	See cases [RCV000510535]	Chr13:94474530..115107733 [GRCh37] Chr13:13q31.3-34	pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	copy number gain	See cases [RCV000510281]	Chr13:71871468..115107733 [GRCh37] Chr13:13q21.33-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	copy number gain	See cases [RCV000510566]	Chr13:80058840..115107733 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1	copy number loss	See cases [RCV000510433]	Chr13:103880953..115107733 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	copy number gain	See cases [RCV000511880]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	copy number loss	See cases [RCV000512257]	Chr13:96586481..115107733 [GRCh37] Chr13:13q32.1-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	copy number gain	See cases [RCV000512605]	Chr13:83435292..115107733 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	copy number gain	See cases [RCV000512242]	Chr13:85176519..115107733 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1	copy number loss	not provided [RCV000683563]	Chr13:109771548..115107733 [GRCh37] Chr13:13q33.3-34	pathogenic
GRCh37/hg19 13q34(chr13:112530842-115107733)x1	copy number loss	not provided [RCV000683558]	Chr13:112530842..115107733 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	copy number gain	not provided [RCV000683571]	Chr13:78590089..115107733 [GRCh37] Chr13:13q22.3-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1	copy number loss	not provided [RCV000683567]	Chr13:105389857..113467489 [GRCh37] Chr13:13q33.2-34	pathogenic
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	copy number gain	not provided [RCV000683565]	Chr13:108567578..115107733 [GRCh37] Chr13:13q33.3-34	pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	copy number loss	not provided [RCV000683566]	Chr13:108083664..115107733 [GRCh37] Chr13:13q33.3-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3	copy number gain	not provided [RCV000738115]	Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1	copy number loss	not provided [RCV000738357]	Chr13:101075864..115105020 [GRCh37] Chr13:13q32.3-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3	copy number gain	not provided [RCV000750643]	Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1	copy number loss	not provided [RCV000750890]	Chr13:104539503..115103529 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q34(chr13:111152478-114527838)x1	copy number loss	not provided [RCV000750904]	Chr13:111152478..114527838 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13q34(chr13:111217422-115103529)x1	copy number loss	not provided [RCV000750906]	Chr13:111217422..115103529 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	copy number gain	not provided [RCV000767821]	Chr13:101881803..115091330 [GRCh37] Chr13:13q33.1-34	pathogenic
NM_006322.6(TUBGCP3):c.943C>T (p.Arg315Cys)	single nucleotide variant	Inborn genetic diseases [RCV003270625]	Chr13:112554080 [GRCh38] Chr13:113208394 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.1115A>G (p.Tyr372Cys)	single nucleotide variant	Inborn genetic diseases [RCV003248671]	Chr13:112547673 [GRCh38] Chr13:113201987 [GRCh37] Chr13:13q34	uncertain significance
GRCh37/hg19 13q34(chr13:111568865-115107733)x1	copy number loss	not provided [RCV000846886]	Chr13:111568865..115107733 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	not provided [RCV000849129]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
Single allele	deletion	not provided [RCV000845021]	Chr13:107452288..115092569 [GRCh37] Chr13:13q33.3-34	not provided
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	copy number gain	not provided [RCV000848672]	Chr13:109203109..115107733 [GRCh37] Chr13:13q33.3-34	uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	copy number gain	not provided [RCV000847710]	Chr13:94849303..115107733 [GRCh37] Chr13:13q31.3-34	uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	copy number gain	not provided [RCV000848025]	Chr13:61775567..115107733 [GRCh37] Chr13:13q21.2-34	pathogenic
NM_006322.6(TUBGCP3):c.2253C>A (p.His751Gln)	single nucleotide variant	Inborn genetic diseases [RCV003293298]	Chr13:112504086 [GRCh38] Chr13:113158400 [GRCh37] Chr13:13q34	uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	copy number loss	not provided [RCV001006567]	Chr13:53262013..115107733 [GRCh37] Chr13:13q14.3-34	pathogenic
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	copy number loss	not provided [RCV001006591]	Chr13:96895656..115107733 [GRCh37] Chr13:13q32.1-34	pathogenic
GRCh37/hg19 13q34(chr13:112069981-115107733)x3	copy number gain	not provided [RCV001259172]	Chr13:112069981..115107733 [GRCh37] Chr13:13q34	likely pathogenic
Single allele	deletion	not provided [RCV001260932]	Chr13:102175801..115169858 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	copy number loss	not provided [RCV001259170]	Chr13:106256198..115107733 [GRCh37] Chr13:13q33.2-34	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 13q34(chr13:110428062-115107733)	copy number loss	Neurodevelopmental delay [RCV002280627]	Chr13:110428062..115107733 [GRCh37] Chr13:13q34	pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	copy number gain	See cases [RCV001780076]	Chr13:1..115169878 [GRCh37] Chr13:13p13-q34	pathogenic
Single allele	deletion	Factor X deficiency [RCV001807695]	Chr13:110801268..113803893 [GRCh37] Chr13:13q34	likely pathogenic
NC_000013.11:g.109179481_114327244del	deletion	Factor X deficiency [RCV001818108]	Chr13:109179481..114327244 [GRCh38] Chr13:13q33.3-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	copy number gain	not specified [RCV002053073]	Chr13:85037147..115107733 [GRCh37] Chr13:13q31.1-34	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 13q33.2-34(chr13:106450862-115107733)	copy number loss	not specified [RCV002053084]	Chr13:106450862..115107733 [GRCh37] Chr13:13q33.2-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	copy number loss	not specified [RCV002053072]	Chr13:79370012..115107733 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	copy number loss	not specified [RCV002053077]	Chr13:100258328..115107733 [GRCh37] Chr13:13q32.3-34	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)	copy number gain	not specified [RCV002053036]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	copy number loss	not specified [RCV002053074]	Chr13:88073140..115107733 [GRCh37] Chr13:13q31.2-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	copy number loss	not specified [RCV002053083]	Chr13:106056749..115107733 [GRCh37] Chr13:13q33.2-34	pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	copy number gain	not specified [RCV002053071]	Chr13:78514567..115107733 [GRCh37] Chr13:13q22.3-34	pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	copy number gain	not specified [RCV002053063]	Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34	pathogenic
GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	copy number loss	not specified [RCV002053082]	Chr13:104545892..115107733 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	copy number gain	See cases [RCV002286354]	Chr13:89490345..115062235 [GRCh37] Chr13:13q31.2-34	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 13q22.1-34(chr13:75268539-115107733)x3	copy number gain	not provided [RCV002472537]	Chr13:75268539..115107733 [GRCh37] Chr13:13q22.1-34	pathogenic
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	copy number loss	not provided [RCV002474828]	Chr13:97142120..115107733 [GRCh37] Chr13:13q32.1-34	pathogenic
GRCh37/hg19 13q34(chr13:113196617-113800575)x1	copy number loss	not provided [RCV002473601]	Chr13:113196617..113800575 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.463G>A (p.Gly155Ser)	single nucleotide variant	Inborn genetic diseases [RCV002974107]	Chr13:112558281 [GRCh38] Chr13:113212595 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.316A>G (p.Arg106Gly)	single nucleotide variant	Inborn genetic diseases [RCV002907328]	Chr13:112559336 [GRCh38] Chr13:113213650 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.1877T>C (p.Leu626Pro)	single nucleotide variant	Inborn genetic diseases [RCV002732437]	Chr13:112519890 [GRCh38] Chr13:113174204 [GRCh37] Chr13:13q34	uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	copy number gain	not provided [RCV002475671]	Chr13:99421603..115107733 [GRCh37] Chr13:13q32.3-34	pathogenic
NM_006322.6(TUBGCP3):c.406C>T (p.Pro136Ser)	single nucleotide variant	Inborn genetic diseases [RCV002762800]	Chr13:112558338 [GRCh38] Chr13:113212652 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.958G>A (p.Val320Ile)	single nucleotide variant	Inborn genetic diseases [RCV002924571]	Chr13:112554065 [GRCh38] Chr13:113208379 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.769G>A (p.Val257Ile)	single nucleotide variant	Inborn genetic diseases [RCV002704665]	Chr13:112554958 [GRCh38] Chr13:113209272 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.400G>A (p.Ala134Thr)	single nucleotide variant	Inborn genetic diseases [RCV002926041]	Chr13:112558344 [GRCh38] Chr13:113212658 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.2281C>T (p.Arg761Cys)	single nucleotide variant	Inborn genetic diseases [RCV002911466]	Chr13:112504058 [GRCh38] Chr13:113158372 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.296G>A (p.Ser99Asn)	single nucleotide variant	Inborn genetic diseases [RCV002822499]	Chr13:112559356 [GRCh38] Chr13:113213670 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.436C>T (p.Arg146Trp)	single nucleotide variant	Inborn genetic diseases [RCV002846070]	Chr13:112558308 [GRCh38] Chr13:113212622 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.527C>T (p.Ala176Val)	single nucleotide variant	Inborn genetic diseases [RCV002699262]	Chr13:112558217 [GRCh38] Chr13:113212531 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.617C>T (p.Thr206Ile)	single nucleotide variant	Inborn genetic diseases [RCV002879211]	Chr13:112556156 [GRCh38] Chr13:113210470 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.1010G>A (p.Arg337Gln)	single nucleotide variant	Inborn genetic diseases [RCV002809355]	Chr13:112548133 [GRCh38] Chr13:113202447 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.1196C>T (p.Ala399Val)	single nucleotide variant	Inborn genetic diseases [RCV002670006]	Chr13:112545838 [GRCh38] Chr13:113200152 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.1433A>G (p.Asp478Gly)	single nucleotide variant	Inborn genetic diseases [RCV002723825]	Chr13:112527387 [GRCh38] Chr13:113181701 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.2024A>G (p.Tyr675Cys)	single nucleotide variant	Inborn genetic diseases [RCV002655910]	Chr13:112516502 [GRCh38] Chr13:113170816 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.397T>C (p.Tyr133His)	single nucleotide variant	Inborn genetic diseases [RCV003208238]	Chr13:112558347 [GRCh38] Chr13:113212661 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.2278T>C (p.Ser760Pro)	single nucleotide variant	Inborn genetic diseases [RCV003199450]	Chr13:112504061 [GRCh38] Chr13:113158375 [GRCh37] Chr13:13q34	uncertain significance
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	copy number loss	Chromosome 13q33-q34 deletion syndrome [RCV003327641]	Chr13:106425676..114326445 [GRCh38] Chr13:13q33.3-34	pathogenic
NM_006322.6(TUBGCP3):c.314G>A (p.Arg105His)	single nucleotide variant	Inborn genetic diseases [RCV003341484]	Chr13:112559338 [GRCh38] Chr13:113213652 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.10C>T (p.Pro4Ser)	single nucleotide variant	Inborn genetic diseases [RCV003351597]	Chr13:112587971 [GRCh38] Chr13:113242285 [GRCh37] Chr13:13q34	uncertain significance
NM_006322.6(TUBGCP3):c.1168+37CGCGCGACTTTCCCA[2]	microsatellite	not specified [RCV003457239]	Chr13:112547539..112547553 [GRCh38] Chr13:113201853..113201867 [GRCh37] Chr13:13q34	benign
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	copy number gain	not provided [RCV003484899]	Chr13:61534068..115107733 [GRCh37] Chr13:13q21.2-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	copy number loss	not provided [RCV003483192]	Chr13:82131211..115107733 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	copy number gain	not provided [RCV003484901]	Chr13:73488238..115107733 [GRCh37] Chr13:13q22.1-34	pathogenic
NM_006322.6(TUBGCP3):c.1168+73_1168+102del	deletion	not provided [RCV003411008]	Chr13:112547518..112547547 [GRCh38] Chr13:113201832..113201861 [GRCh37] Chr13:13q34	likely benign
GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	copy number loss	not specified [RCV003987016]	Chr13:106591678..115107733 [GRCh37] Chr13:13q33.2-34	pathogenic
GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	copy number loss	not specified [RCV003987029]	Chr13:103149209..115107733 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	copy number loss	not specified [RCV003987038]	Chr13:84669397..115107733 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	copy number gain	not specified [RCV003987031]	Chr13:106430837..114763645 [GRCh37] Chr13:13q33.2-34	uncertain significance
GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	copy number loss	not specified [RCV003987019]	Chr13:104389334..115107733 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	copy number loss	not specified [RCV003987020]	Chr13:105761074..115107733 [GRCh37] Chr13:13q33.2-34	pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	copy number gain	not specified [RCV003987023]	Chr13:82876219..115107733 [GRCh37] Chr13:13q31.1-34	pathogenic
GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	copy number loss	not specified [RCV003987036]	Chr13:102421732..115107733 [GRCh37] Chr13:13q33.1-34	pathogenic
GRCh37/hg19 13q34(chr13:113158346-115091756)x1	copy number loss	not provided [RCV003885459]	Chr13:113158346..115091756 [GRCh37] Chr13:13q34	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1227
Count of miRNA genes:	732
Interacting mature miRNAs:	822
Transcripts:	ENST00000261965, ENST00000375669, ENST00000462580, ENST00000464139, ENST00000469302, ENST00000483532
Prediction methods:	Microtar, 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

RH45555

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	113,139,405 - 113,139,521	UniSTS	GRCh37
Build 36	13	112,187,406 - 112,187,522	RGD	NCBI36
Celera	13	93,964,720 - 93,964,836	RGD
Cytogenetic Map	13	q34	UniSTS
HuRef	13	93,581,008 - 93,581,124	UniSTS
GeneMap99-GB4 RH Map	13	313.33	UniSTS
NCBI RH Map	13	1041.4	UniSTS

D13S503E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	113,139,405 - 113,139,625	UniSTS	GRCh37
Build 36	13	112,187,406 - 112,187,626	RGD	NCBI36
Celera	13	93,964,720 - 93,964,940	RGD
Cytogenetic Map	13	q34	UniSTS
HuRef	13	93,581,008 - 93,581,228	UniSTS

SHGC-149674

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	113,176,202 - 113,176,486	UniSTS	GRCh37
Build 36	13	112,224,203 - 112,224,487	RGD	NCBI36
Celera	13	94,001,519 - 94,001,803	RGD
Cytogenetic Map	13	q34	UniSTS
HuRef	13	93,617,806 - 93,618,090	UniSTS
TNG Radiation Hybrid Map	13	43253.0	UniSTS

RH44376

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	113,139,380 - 113,139,569	UniSTS	GRCh37
Build 36	13	112,187,381 - 112,187,570	RGD	NCBI36
Celera	13	93,964,695 - 93,964,884	RGD
Cytogenetic Map	13	q34	UniSTS
HuRef	13	93,580,983 - 93,581,172	UniSTS
GeneMap99-GB4 RH Map	13	313.33	UniSTS
NCBI RH Map	13	1041.4	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

1112

1200

699

102

1223

3021

556

1221

175

1191

1216

646

1769

Low

1327

1787

1027

522

728

387

1336

1637

2513

244

269

397

134

558

1019

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001286277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286278	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005268293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011537462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017020323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001749455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007063655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA720688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF042378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ003061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ003062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL139384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL160033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007763	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC046634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP381545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT009772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L13800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L13801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000261965 ⟹ ENSP00000261965

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,485,011 - 112,588,153 (-)	Ensembl

RefSeq Acc Id:

ENST00000375669 ⟹ ENSP00000364821

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,498,807 - 112,588,125 (-)	Ensembl

RefSeq Acc Id:

ENST00000462580

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,522,320 - 112,546,203 (-)	Ensembl

RefSeq Acc Id:

ENST00000464139 ⟹ ENSP00000478276

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,546,482 - 112,588,135 (-)	Ensembl

RefSeq Acc Id:

ENST00000469302

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,485,844 - 112,489,823 (-)	Ensembl

RefSeq Acc Id:

ENST00000483532

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,558,196 - 112,587,346 (-)	Ensembl

RefSeq Acc Id:

ENST00000611152 ⟹ ENSP00000482912

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,544,556 - 112,548,172 (-)	Ensembl

RefSeq Acc Id:

ENST00000649778 ⟹ ENSP00000497715

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	112,485,033 - 112,588,205 (-)	Ensembl

RefSeq Acc Id:

NM_001286277 ⟹ NP_001273206

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,485,011 - 112,588,153 (-)	NCBI
HuRef	13	93,580,922 - 93,683,854 (-)	NCBI
CHM1_1	13	113,105,125 - 113,211,516 (-)	NCBI
T2T-CHM13v2.0	13	111,732,118 - 111,835,832 (-)	NCBI

Sequence:

show sequence

GCGCTTTCGGCGGGTTCCGTTAAAATGGCGCCCTGGTGGCCGGCGGCGCCCGCGCCTTAGCCTG
TCAGGAGCAGGGAGCTTGCGGGGCGCAGGAAGGGCGCGGGCCGCGGTCCCTGCGCGTGCGGCGG
CAGTGGCGGCTCTGCCCGGACCACCGTGCACGGCTCCGGGCGAGGATGGCGACCCCGGACCAGA
AGTCGCCGAACGTTCTGCTGCAGAACCTGTGCTGCAGGATCCTGGGCAGGAGCGAAGCTGATGT
AGCCCAGCAGTTCCAGTATGCTGTGCGGGTGATTGGCAGCAACTTCGCCCCAACTGTTGAAAGA
GATGAATTTTTAGTAGCTGAAAAAATCAAGAAAGAGCTTATTCGACAACGAAGAGAAGCAGATG
CTGCATTATTTTCAGAACTCCACAGAAAACTTCATTCACAGGGAGTTTTGAAAAATAAATGGTC
AATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGCCTTACCA
AGAGATGCCCACTCAACCCCTTACTACTATGCCAGGCCTCAGACCCTTCCCCTGAGCTACCAAG
ATCGGAGTGCCCAGTCAGCCCAGAGCTCCGGCAGCGTGGGCAGCAGTGGCATCAGCAGCATTGG
CCTGTGTGCCCTCAGTGGCCCCGCGCCTGCGCCACAATCTCTCCTCCCAGGACAGTCTAATCAA
GCTCCAGGAGTAGGAGATTGCCTTCGACAGCAGTTGGGGTCACGACTCGCATGGACTTTAACTG
CAAATCAGCCTTCTTCACAAGCCACTACCTCAAAAGGTGTCCCCAGTGCTGTGTCTCGCAACAT
GACAAGGTCCAGGAGAGAAGGGGATACGGGTGGTACTATGGAAATTACAGAAGCAGCTCTGGTA
AGGGACATTTTGTACGTCTTTCAGGGCATAGATGGCAAAAACATCAAAATGAACAACACTGAAA
ATTGTTACAAAGTAGAAGGAAAGGCAAATCTAAGTAGGTCTTTGAGAGACACAGCAGTCAGGCT
TTCTGAGTTGGGATGGTTGCATAATAAAATCAGAAGATACACGGACCAGAGGAGCCTGGACCGC
TCATTCGGACTCGTCGGGCAGAGCTTTTGTGCTGCCTTGCACCAGGAACTCAGAGAATACTATC
GATTGCTCTCTGTTTTACATTCTCAGCTACAACTAGAGGATGACCAGGGTGTGAATTTGGGACT
TGAGAGTAGTTTAACACTTCGGCGCCTCCTGGTTTGGACCTATGATCCCAAAATACGACTGAAG
ACCCTTGCGGCCCTAGTGGACCACTGCCAAGGAAGGAAAGGAGGTGAGCTGGCCTCAGCTGTCC
ACGCCTACACAAAAACAGGAGACCCGTACATGCGGTCTCTGGTGCAGCACATCCTCAGCCTCGT
GTCTCATCCTGTTTTGAGCTTCCTGTACCGCTGGATATATGATGGGGAGCTTGAGGACACTTAC
CACGAATTTTTTGTAGCATCAGATCCAACAGTTAAAACAGATCGACTGTGGCACGACAAGTATA
CTTTGAGGAAATCGATGATTCCTTCGTTTATGACGATGGATCAGTCTAGGAAGGTCCTTTTGAT
AGGAAAATCAATAAATTTCTTGCACCAAGTTTGTCATGATCAGACTCCCACTACAAAGATGATA
GCTGTGACCAAGTCTGCAGAGTCACCCCAGGACGCTGCAGACCTATTCACAGACTTGGAAAATG
CATTTCAGGGGAAGATTGATGCTGCTTATTTTGAGACCAGCAAATACCTGTTGGATGTTCTCAA
TAAAAAGTACAGCTTGCTGGACCACATGCAGGCAATGAGGCGGTACCTGCTTCTTGGTCAAGGA
GACTTTATAAGGCACTTAATGGACTTGCTAAAACCAGAACTTGTCCGTCCAGCTACGACTTTGT
ATCAGCATAACTTGACTGGAATTCTAGAAACCGCTGTCAGAGCCACCAACGCACAGTTTGACAG
TCCTGAGATCCTGCGAAGGCTGGACGTGCGGCTGCTGGAGGTCTCTCCAGGTGACACTGGATGG
GATGTCTTCAGCCTCGATTATCATGTTGACGGACCAATTGCAACTGTGTTTACTCGAGAATGTA
TGAGCCACTACCTAAGAGTATTTAACTTCCTCTGGAGGGCGAAGCGGATGGAATACATCCTCAC
TGACATACGGAAGGGACACATGTGCAATGCAAAGCTCCTGAGAAACATGCCAGAGTTCTCCGGG
GTGCTGCACCAGTGTCACATTTTGGCCTCTGAGATGGTCCATTTCATTCATCAGATGCAGTATT
ACATCACATTTGAGGTGCTTGAATGTTCTTGGGATGAGCTTTGGAACAAAGTCCAGCAGGCCCA
GGATTTGGATCACATCATTGCTGCACACGAGGTGTTCTTAGACACCATCATCTCCCGCTGCCTG
CTGGACAGTGACTCCAGGGCACTTTTAAATCAACTTAGAGCTGTGTTTGATCAAATTATTGAAC
TTCAGAATGCTCAAGATGCAATATACAGAGCTGCTCTGGAAGAATTGCAGAGACGATTACAGTT
TGAAGAGAAAAAGAAACAGCGTGAAATTGAGGGCCAGTGGGGAGTGACGGCAGCAGAGGAAGAG
GAGGAAAATAAGAGGATTGGAGAATTTAAAGAATCTATACCAAAAATGTGCTCACAGTTGCGAA
TATTGACCCATTTCTACCAGGGTATCGTGCAGCAGTTTTTGGTGTTACTGACGACCAGCTCTGA
CGAGAGTCTTCGGTTTCTTAGCTTCAGGCTGGACTTCAACGAGCATTACAAAGCCAGGGAGCCC
AGGCTCCGTGTGTCTCTGGGTACCAGGGGGCGGCGCAGCTCCCACACGTGAAGCTCGCGGTCCT
CCCAGGGAGCTGCGGGTGATGTTCGTTGCACTGCTAGACACGAAATTCCCATTGACGTCCTGCA
GGAACTGCATGCTGCAGGTGTCCTGCCCTTCCGCCCACGAGTGCGCCATGTTTCAGCGGAGCGG
CGTGTGGGAGAAGCCACGTCGTGTTTCACATGTCGGAGTCGAATGCATTTGTAAATCCCTAAGT
CAAGTAGGCTGGCTGCACTGTTCACATTTGTCTCTAAAAGTCTTCATCGCTAAAAGATACCATA
ATTTGCTGAGGCTTCTTAAGCTTTCTATGTTATAATTTATATTTGTCACTTTAAAAAATCCATT
TCTTTTAGAAAAAATTAGGGTGATAGGATATTCATTAGTTAAGATGGTAACGTCATTGCTATTT
TTTTAACATCCTCTTTAGAGGTAATTTTTGTTAACATAACCAAAAATTAAATTGAAACAAAATG
TCCCAACTAAGAAAATATATAGAGCATTTTATTTTTTTTTAGTGTTGTAAAATATTAACCTCTG
TGAGATCCTTTGTATCTTAATGCATTACCTTTACACATATTTATTCTTATTTTCTCTCCTTTCA
GAGTTTACATTTTTATATTTAATTTACTATTTCAGATTTTTAAAATAGTATAGAAAAAAGTAGG
AGTGATAGAGAACAAAAATACTCTTATACAGTGCAACCCAAATACCGCGAATGCATCAGCTAAA
GCAGCGTGTAAATAGGAGTGACGAGAAAGTTAATGGAGTATTTTATTTTCAAAGTTCCTGATAA
GCATTGGAAAGAAATCGACATGGATAATGAAGATTTCCTTTTTCCTTGCCTATTTTTTCATTGT
AAATATTTATATACTACTGACCAAGATGTTGGGGTGGGGGGGATTGTTTTTTGTAAAAATGTCA
TTATCAGGTCACATAAATCTGCCTTTATGTTGCATAAGTGAAAATTTAGAAAATTAAAAGCAAT
TATCTTTCA

hide sequence

RefSeq Acc Id:

NM_001286278 ⟹ NP_001273207

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,498,807 - 112,588,153 (-)	NCBI
HuRef	13	93,580,922 - 93,683,854 (-)	NCBI
CHM1_1	13	113,118,927 - 113,211,516 (-)	NCBI
T2T-CHM13v2.0	13	111,745,922 - 111,835,832 (-)	NCBI

Sequence:

show sequence

GCGCTTTCGGCGGGTTCCGTTAAAATGGCGCCCTGGTGGCCGGCGGCGCCCGCGCCTTAGCCTG
TCAGGAGCAGGGAGCTTGCGGGGCGCAGGAAGGGCGCGGGCCGCGGTCCCTGCGCGTGCGGCGG
CAGTGGCGGCTCTGCCCGGACCACCGTGCACGGCTCCGGGCGAGGATGGCGACCCCGGACCAGA
AGTCGCCGAACGTTCTGCTGCAGAACCTGTGCTGCAGGATCCTGGGCAGGAGCGAAGCTGATGT
AGCCCAGCAGTTCCAGTATGCTGTGCGGGTGATTGGCAGCAACTTCGCCCCAACTGTTGAAAGA
GATGAATTTTTAGTAGCTGAAAAAATCAAGAAAGAGCTTATTCGACAACGAAGAGAAGCAGATG
CTGCATTATTTTCAGAACTCCACAGAAAACTTCATTCACAGGGAGTTTTGAAAAATAAATGGTC
AATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTTTCTAGC
TATGCTACGTTATTTGCTCAGGCCTTACCAAGAGATGCCCACTCAACCCCTTACTACTATGCCA
GGCCTCAGACCCTTCCCCTGAGCTACCAAGATCGGAGTGCCCAGTCAGCCCAGAGCTCCGGCAG
CGTGGGCAGCAGTGGCATCAGCAGCATTGGCCTGTGTGCCCTCAGTGGCCCCGCGCCTGCGCCA
CAATCTCTCCTCCCAGGACAGTCTAATCAAGCTCCAGGAGTAGGAGATTGCCTTCGACAGCAGT
TGGGGTCACGACTCGCATGGACTTTAACTGCAAATCAGCCTTCTTCACAAGCCACTACCTCAAA
AGGTGTCCCCAGTGCTGTGTCTCGCAACATGACAAGGTCCAGGAGAGAAGGGGATACGGGTGGT
ACTATGGAAATTACAGAAGCAGCTCTGGTAAGGGACATTTTGTACGTCTTTCAGGGCATAGATG
GCAAAAACATCAAAATGAACAACACTGAAAATTGTTACAAAGTAGAAGGAAAGGCAAATCTAAG
TAGGTCTTTGAGAGACACAGCAGTCAGGCTTTCTGAGTTGGGATGGTTGCATAATAAAATCAGA
AGATACACGGACCAGAGGAGCCTGGACCGCTCATTCGGACTCGTCGGGCAGAGCTTTTGTGCTG
CCTTGCACCAGGAACTCAGAGAATACTATCGATTGCTCTCTGTTTTACATTCTCAGCTACAACT
AGAGGATGACCAGGGTGTGAATTTGGGACTTGAGAGTAGTTTAACACTTCGGCGCCTCCTGGTT
TGGACCTATGATCCCAAAATACGACTGAAGACCCTTGCGGCCCTAGTGGACCACTGCCAAGGAA
GGAAAGGAGGTGAGCTGGCCTCAGCTGTCCACGCCTACACAAAAACAGGAGACCCGTACATGCG
GTCTCTGGTGCAGCACATCCTCAGCCTCGTGTCTCATCCTGTTTTGAGCTTCCTGTACCGCTGG
ATATATGATGGGGAGCTTGAGGACACTTACCACGAATTTTTTGTAGCATCAGATCCAACAGTTA
AAACAGATCGACTGTGGCACGACAAGTATACTTTGAGGAAATCGATGATTCCTTCGTTTATGAC
GATGGATCAGTCTAGGAAGGTCCTTTTGATAGGAAAATCAATAAATTTCTTGCACCAAGTTTGT
CATGATCAGACTCCCACTACAAAGATGATAGCTGTGACCAAGTCTGCAGAGTCACCCCAGGACG
CTGCAGACCTATTCACAGACTTGGAAAATGCATTTCAGGGGAAGATTGATGCTGCTTATTTTGA
GACCAGCAAATACCTGTTGGATGTTCTCAATAAAAAGTACAGCTTGCTGGACCACATGCAGGCA
ATGAGGCGGTACCTGCTTCTTGGTCAAGGAGACTTTATAAGGCACTTAATGGACTTGCTAAAAC
CAGAACTTGTCCGTCCAGCTACGACTTTGTATCAGCATAACTTGACTGGAATTCTAGAAACCGC
TGTCAGAGCCACCAACGCACAGTTTGACAGTCCTGAGATCCTGCGAAGGCTGGACGTGCGGCTG
CTGGAGGTCTCTCCAGGTGACACTGGATGGGATGTCTTCAGCCTCGATTATCATGTTGACGGAC
CAATTGCAACTGTGTTTACTCGAGAATGTATGAGCCACTACCTAAGAGTATTTAACTTCCTCTG
GAGGGCGAAGCGGATGGAATACATCCTCACTGACATACGGAAGGGACACATGTGCAATGCAAAG
CTCCTGAGAAACATGCCAGAGTTCTCCGGGGTGCTGCACCAGTGTCACATTTTGGCCTCTGAGA
TGGTCCATTTCATTCATCAGATGCAGTATTACATCACATTTGAGGTGCTTGAATGTTCTTGGGA
TGAGCTTTGGAACAAAGTCCAGCAGGCCCAGGATTTGGATCACATCATTGCTGCACACGAGGTG
TTCTTAGACACCATCATCTCCCGCTGCCTGCTGGACAGTGACTCCAGGGCACTTTTAAATCAAC
TTAGAGCTGTGTTTGATCAAATTATTGAACTTCAGAATGCTCAAGATGCAATATACAGAGCTGC
TCTGGAAGAATTGCAGAGACGATTACAGTTTGAAGAGAAAAAGAAACAGCGTGAAATTGAGGTT
GAGATGTGCCTATACTGCGTTTGAAGTCCCGAGAAATCACTGACAGTTGTAAAGAGGGAGGGGC
CACCCTCACTGGCATCATCATCCTGTTTCACAAAATAAATAAAAACAGCAGCATTCATGAGAA

hide sequence

RefSeq Acc Id:

NM_001286279 ⟹ NP_001273208

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,546,482 - 112,588,153 (-)	NCBI
HuRef	13	93,580,922 - 93,683,854 (-)	NCBI
CHM1_1	13	113,166,601 - 113,211,516 (-)	NCBI
T2T-CHM13v2.0	13	111,794,152 - 111,835,832 (-)	NCBI

Sequence:

show sequence

GCGCTTTCGGCGGGTTCCGTTAAAATGGCGCCCTGGTGGCCGGCGGCGCCCGCGCCTTAGCCTG
TCAGGAGCAGGGAGCTTGCGGGGCGCAGGAAGGGCGCGGGCCGCGGTCCCTGCGCGTGCGGCGG
CAGTGGCGGCTCTGCCCGGACCACCGTGCACGGCTCCGGGCGAGGATGGCGACCCCGGACCAGA
AGTCGCCGAACGTTCTGCTGCAGAACCTGTGCTGCAGGATCCTGGGCAGGAGCGAAGCTGATGT
AGCCCAGCAGTTCCAGTATGCTGTGCGGGTGATTGGCAGCAACTTCGCCCCAACTGTTGAAAGA
GATGAATTTTTAGTAGCTGAAAAAATCAAGAAAGAGCTTATTCGACAACGAAGAGAAGCAGATG
CTGCATTATTTTCAGAACTCCACAGAAAACTTCATTCACAGGGAGTTTTGAAAAATAAATGGTC
AATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTTTCTAGC
TATGCTACGTTATTTGCTCAGGCCTTACCAAGAGATGCCCACTCAACCCCTTACTACTATGCCA
GGCCTCAGACCCTTCCCCTGAGCTACCAAGATCGGAGTGCCCAGTCAGCCCAGAGCTCCGGCAG
CGTGGGCAGCAGTGGCATCAGCAGCATTGGCCTGTGTGCCCTCAGTGGCCCCGCGCCTGCGCCA
CAATCTCTCCTCCCAGGACAGTCTAATCAAGCTCCAGGAGTAGGAGATTGCCTTCGACAGCAGT
TGGGGTCACGACTCGCATGGACTTTAACTGCAAATCAGCCTTCTTCACAAGCCACTACCTCAAA
AGGTGTCCCCAGTGCTGTGTCTCGCAACATGACAAGGTCCAGGAGAGAAGGGGATACGGGTGGT
ACTATGGAAATTACAGAAGCAGCTCTGGTAAGGGACATTTTGTACGTCTTTCAGGGCATAGATG
GCAAAAACATCAAAATGAACAACACTGAAAATTGTTACAAAGTAGAAGGAAAGGCAAATCTAAG
TAGGTCTTTGAGAGACACAGCAGTCAGGCTTTCTGAGTTGGGATGGTTGCATAATAAAATCAGA
AGATACACGGACCAGAGGAGCCTGGACCGCTCATTCGGACTCGTCGGGCAGAGCTTTTGTGCTG
CCTTGCACCAGGAACTCAGAGAATACTATCGATTGCTCTCTGTTTTACATTCTCAGCTACAACT
AGAGGATGACCAGGGTGTGAATTTGGGACTTGAGAGTAGTTTAACACTTCGGCGCCTCCTGGTT
TGGACCTATGATCCCAAAATACGACTGAAGACCCTTGCGGCCCTAGTGGACCACTGCCAAGGTC
CCACGCGCGTCTTTCCCACGCACGTCTTTCCCACGCGCGACTTTCCCACGCGCGACTTTCCCAC
GCGCGACTTTCCCATGCACGTCTTTCCCACGCGCGTCTTTCCCACGCGCGTCTGGCACTCGCTT
TGTTTCAGAACTCGTTTGTAGGGTGCGCCATCCAGGCTTGCTTTTGTGTCCTGCCCGTTTTTGT
CCTTAATGGCCGTGTTGATTCGATAGGAATCGACAGATGGGAGCCAAGAGGGGACGTAACCACT
TGCCAGTGTGGCCCAGTATTTATATGGTAGAAGCTCGGGCTGGCATTGAGATGGAGGTGGGAAA
GAGGAGGGTGTCTCGTGTTTAAAGATTTCTCTCTTGTGTGGTCCTTGGTTATGGCTCCCCATGG
TGCTTGCTGCTCCCTTGGTCGCCTTTCCTTGCATTTTGCTTTTTGCCTTTAGTCCTTCTGCAGT
CAGGGACCATGTTGGTGACTCTCGGTCAGATGTTCCCATATTTGCATGTCTTGCTTTGGCCTCT
CTGGCTCTAGGTTCTGTATTGCTAGTTGCTTTCTGACATTTTTTCTCATTGTTTGTGCTACCTT
GGCCAAGAACCTCTTTGCCTTCTCCCTCGTTTGTAACATTGAGATCCTAGTAGCAGTTACTTCT
TAGGGTTGTTAGGATGACATGAGATGGGCGAGTTGGCCATCTGCCACACAAGAGTTCCCTTCTC
ACTGCCATCCTCTGCCCAGGGTGTTCCCCAGAATCTGCAGGGCCCCATTGGTCATCTTGCTGTC
TGCACACCTTCCTCTCTCACCTCTTGGCACTTCCCTCAAAAAAGAGAGAAGTGGAGCACAGTAA
ATAAACGCCAGCGTTTTCTCCAGTTCCCAGCACCTCTCCGGAACTGGATCCCCCAAACTCCTCT
GTCACTTTCTGTGTCCAGCGGGCCCCTGGGGTCCTTCACTGTCTTCACTCTGCTCAGCCTGTGC
GCTTGGCCTTGGTGCTGTAGGGACTGTTATAAGAGCTGCTGTCCGATCCCCATATTCAATCTCA
CAGCCCCACTTTGTGTACACACACCAGAGCCATCTTCTTAAAATCAGATCCTGTCACTCCTCTC
CCTAAAATCTACCAGTGGTCTAATAAAATCTTGAATTTTTAGCATAA

hide sequence

RefSeq Acc Id:

NM_006322 ⟹ NP_006313

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,485,011 - 112,588,153 (-)	NCBI
GRCh37	13	113,139,319 - 113,242,494 (-)	NCBI
Build 36	13	112,187,326 - 112,290,482 (-)	NCBI Archive
Celera	13	93,964,643 - 94,067,798 (-)	RGD
HuRef	13	93,580,922 - 93,683,854 (-)	NCBI
CHM1_1	13	113,105,125 - 113,211,516 (-)	NCBI
T2T-CHM13v2.0	13	111,732,118 - 111,835,832 (-)	NCBI

Sequence:

show sequence

GCGCTTTCGGCGGGTTCCGTTAAAATGGCGCCCTGGTGGCCGGCGGCGCCCGCGCCTTAGCCTG
TCAGGAGCAGGGAGCTTGCGGGGCGCAGGAAGGGCGCGGGCCGCGGTCCCTGCGCGTGCGGCGG
CAGTGGCGGCTCTGCCCGGACCACCGTGCACGGCTCCGGGCGAGGATGGCGACCCCGGACCAGA
AGTCGCCGAACGTTCTGCTGCAGAACCTGTGCTGCAGGATCCTGGGCAGGAGCGAAGCTGATGT
AGCCCAGCAGTTCCAGTATGCTGTGCGGGTGATTGGCAGCAACTTCGCCCCAACTGTTGAAAGA
GATGAATTTTTAGTAGCTGAAAAAATCAAGAAAGAGCTTATTCGACAACGAAGAGAAGCAGATG
CTGCATTATTTTCAGAACTCCACAGAAAACTTCATTCACAGGGAGTTTTGAAAAATAAATGGTC
AATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTTTCTAGC
TATGCTACGTTATTTGCTCAGGCCTTACCAAGAGATGCCCACTCAACCCCTTACTACTATGCCA
GGCCTCAGACCCTTCCCCTGAGCTACCAAGATCGGAGTGCCCAGTCAGCCCAGAGCTCCGGCAG
CGTGGGCAGCAGTGGCATCAGCAGCATTGGCCTGTGTGCCCTCAGTGGCCCCGCGCCTGCGCCA
CAATCTCTCCTCCCAGGACAGTCTAATCAAGCTCCAGGAGTAGGAGATTGCCTTCGACAGCAGT
TGGGGTCACGACTCGCATGGACTTTAACTGCAAATCAGCCTTCTTCACAAGCCACTACCTCAAA
AGGTGTCCCCAGTGCTGTGTCTCGCAACATGACAAGGTCCAGGAGAGAAGGGGATACGGGTGGT
ACTATGGAAATTACAGAAGCAGCTCTGGTAAGGGACATTTTGTACGTCTTTCAGGGCATAGATG
GCAAAAACATCAAAATGAACAACACTGAAAATTGTTACAAAGTAGAAGGAAAGGCAAATCTAAG
TAGGTCTTTGAGAGACACAGCAGTCAGGCTTTCTGAGTTGGGATGGTTGCATAATAAAATCAGA
AGATACACGGACCAGAGGAGCCTGGACCGCTCATTCGGACTCGTCGGGCAGAGCTTTTGTGCTG
CCTTGCACCAGGAACTCAGAGAATACTATCGATTGCTCTCTGTTTTACATTCTCAGCTACAACT
AGAGGATGACCAGGGTGTGAATTTGGGACTTGAGAGTAGTTTAACACTTCGGCGCCTCCTGGTT
TGGACCTATGATCCCAAAATACGACTGAAGACCCTTGCGGCCCTAGTGGACCACTGCCAAGGAA
GGAAAGGAGGTGAGCTGGCCTCAGCTGTCCACGCCTACACAAAAACAGGAGACCCGTACATGCG
GTCTCTGGTGCAGCACATCCTCAGCCTCGTGTCTCATCCTGTTTTGAGCTTCCTGTACCGCTGG
ATATATGATGGGGAGCTTGAGGACACTTACCACGAATTTTTTGTAGCATCAGATCCAACAGTTA
AAACAGATCGACTGTGGCACGACAAGTATACTTTGAGGAAATCGATGATTCCTTCGTTTATGAC
GATGGATCAGTCTAGGAAGGTCCTTTTGATAGGAAAATCAATAAATTTCTTGCACCAAGTTTGT
CATGATCAGACTCCCACTACAAAGATGATAGCTGTGACCAAGTCTGCAGAGTCACCCCAGGACG
CTGCAGACCTATTCACAGACTTGGAAAATGCATTTCAGGGGAAGATTGATGCTGCTTATTTTGA
GACCAGCAAATACCTGTTGGATGTTCTCAATAAAAAGTACAGCTTGCTGGACCACATGCAGGCA
ATGAGGCGGTACCTGCTTCTTGGTCAAGGAGACTTTATAAGGCACTTAATGGACTTGCTAAAAC
CAGAACTTGTCCGTCCAGCTACGACTTTGTATCAGCATAACTTGACTGGAATTCTAGAAACCGC
TGTCAGAGCCACCAACGCACAGTTTGACAGTCCTGAGATCCTGCGAAGGCTGGACGTGCGGCTG
CTGGAGGTCTCTCCAGGTGACACTGGATGGGATGTCTTCAGCCTCGATTATCATGTTGACGGAC
CAATTGCAACTGTGTTTACTCGAGAATGTATGAGCCACTACCTAAGAGTATTTAACTTCCTCTG
GAGGGCGAAGCGGATGGAATACATCCTCACTGACATACGGAAGGGACACATGTGCAATGCAAAG
CTCCTGAGAAACATGCCAGAGTTCTCCGGGGTGCTGCACCAGTGTCACATTTTGGCCTCTGAGA
TGGTCCATTTCATTCATCAGATGCAGTATTACATCACATTTGAGGTGCTTGAATGTTCTTGGGA
TGAGCTTTGGAACAAAGTCCAGCAGGCCCAGGATTTGGATCACATCATTGCTGCACACGAGGTG
TTCTTAGACACCATCATCTCCCGCTGCCTGCTGGACAGTGACTCCAGGGCACTTTTAAATCAAC
TTAGAGCTGTGTTTGATCAAATTATTGAACTTCAGAATGCTCAAGATGCAATATACAGAGCTGC
TCTGGAAGAATTGCAGAGACGATTACAGTTTGAAGAGAAAAAGAAACAGCGTGAAATTGAGGGC
CAGTGGGGAGTGACGGCAGCAGAGGAAGAGGAGGAAAATAAGAGGATTGGAGAATTTAAAGAAT
CTATACCAAAAATGTGCTCACAGTTGCGAATATTGACCCATTTCTACCAGGGTATCGTGCAGCA
GTTTTTGGTGTTACTGACGACCAGCTCTGACGAGAGTCTTCGGTTTCTTAGCTTCAGGCTGGAC
TTCAACGAGCATTACAAAGCCAGGGAGCCCAGGCTCCGTGTGTCTCTGGGTACCAGGGGGCGGC
GCAGCTCCCACACGTGAAGCTCGCGGTCCTCCCAGGGAGCTGCGGGTGATGTTCGTTGCACTGC
TAGACACGAAATTCCCATTGACGTCCTGCAGGAACTGCATGCTGCAGGTGTCCTGCCCTTCCGC
CCACGAGTGCGCCATGTTTCAGCGGAGCGGCGTGTGGGAGAAGCCACGTCGTGTTTCACATGTC
GGAGTCGAATGCATTTGTAAATCCCTAAGTCAAGTAGGCTGGCTGCACTGTTCACATTTGTCTC
TAAAAGTCTTCATCGCTAAAAGATACCATAATTTGCTGAGGCTTCTTAAGCTTTCTATGTTATA
ATTTATATTTGTCACTTTAAAAAATCCATTTCTTTTAGAAAAAATTAGGGTGATAGGATATTCA
TTAGTTAAGATGGTAACGTCATTGCTATTTTTTTAACATCCTCTTTAGAGGTAATTTTTGTTAA
CATAACCAAAAATTAAATTGAAACAAAATGTCCCAACTAAGAAAATATATAGAGCATTTTATTT
TTTTTTAGTGTTGTAAAATATTAACCTCTGTGAGATCCTTTGTATCTTAATGCATTACCTTTAC
ACATATTTATTCTTATTTTCTCTCCTTTCAGAGTTTACATTTTTATATTTAATTTACTATTTCA
GATTTTTAAAATAGTATAGAAAAAAGTAGGAGTGATAGAGAACAAAAATACTCTTATACAGTGC
AACCCAAATACCGCGAATGCATCAGCTAAAGCAGCGTGTAAATAGGAGTGACGAGAAAGTTAAT
GGAGTATTTTATTTTCAAAGTTCCTGATAAGCATTGGAAAGAAATCGACATGGATAATGAAGAT
TTCCTTTTTCCTTGCCTATTTTTTCATTGTAAATATTTATATACTACTGACCAAGATGTTGGGG
TGGGGGGGATTGTTTTTTGTAAAAATGTCATTATCAGGTCACATAAATCTGCCTTTATGTTGCA
TAAGTGAAAATTTAGAAAATTAAAAGCAATTATCTTTCA

hide sequence

RefSeq Acc Id:

XM_005268293 ⟹ XP_005268350

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,498,807 - 112,588,153 (-)	NCBI
GRCh37	13	113,139,319 - 113,242,494 (-)	NCBI

Sequence:

show sequence

ATTGTGGGAAGCGCCCGCGCTTTCGGCGGGTTCCGTTAAAATGGCGCCCTGGTGGCCGGCGGCG
CCCGCGCCTTAGCCTGTCAGGAGCAGGGAGCTTGCGGGGCGCAGGAAGGGCGCGGGCCGCGGTC
CCTGCGCGTGCGGCGGCAGTGGCGGCTCTGCCCGGACCACCGTGCACGGCTCCGGGCGAGGATG
GCGACCCCGGACCAGAAGTCGCCGAACGTTCTGCTGCAGAACCTGTGCTGCAGGATCCTGGGCA
GGAGCGAAGCTGATGTAGCCCAGCAGTTCCAGTATGCTGTGCGGGTGATTGGCAGCAACTTCGC
CCCAACTGTTGAAAGAGATGAATTTTTAGTAGCTGAAAAAATCAAGAAAGAGCTTATTCGACAA
CGAAGAGAAGCAGATGCTGCATTATTTTCAGAACTCCACAGAAAACTTCATTCACAGGGAGTTT
TGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCC
AAGCAAGGTTTCTAGCTATGCTACGTTATTTGCTCAGGCCTTACCAAGAGATGCCCACTCAACC
CCTTACTACTATGCCAGGCCTCAGACCCTTCCCCTGAGCTACCAAGATCGGAGTGCCCAGTCAG
CCCAGAGCTCCGGCAGCGTGGGCAGCAGTGGCATCAGCAGCATTGGCCTGTGTGCCCTCAGTGG
CCCCGCGCCTGCGCCACAATCTCTCCTCCCAGGACAGTCTAATCAAGCTCCAGGAGTAGGAGAT
TGCCTTCGACAGCAGTTGGGGTCACGACTCGCATGGACTTTAACTGCAAATCAGCCTTCTTCAC
AAGCCACTACCTCAAAAGGTGTCCCCAGTGCTGTGTCTCGCAACATGACAAGGTCCAGGAGAGA
AGGGGATACGGGTGGTACTATGGAAATTACAGAAGCAGCTCTGGTAAGGGACATTTTGTACGTC
TTTCAGGGCATAGATGGCAAAAACATCAAAATGAACAACACTGAAAATTGTTACAAAGTAGAAG
GAAAGGCAAATCTAAGTAGGTCTTTGAGAGACACAGCAGTCAGGCTTTCTGAGTTGGGATGGTT
GCATAATAAAATCAGAAGATACACGGACCAGAGGAGCCTGGACCGCTCATTCGGACTCGTCGGG
CAGAGCTTTTGTGCTGCCTTGCACCAGGAACTCAGAGAATACTATCGATTGCTCTCTGTTTTAC
ATTCTCAGCTACAACTAGAGGATGACCAGGGTGTGAATTTGGGACTTGAGAGTAGTTTAACACT
TCGGCGCCTCCTGGTTTGGACCTATGATCCCAAAATACGACTGAAGACCCTTGCGGCCCTAGTG
GACCACTGCCAAGGAAGGAAAGGAGGTGAGCTGGCCTCAGCTGTCCACGCCTACACAAAAACAG
GAGACCCGTACATGCGGTCTCTGGTGCAGCACATCCTCAGCCTCGTGTCTCATCCTGTTTTGAG
CTTCCTGTACCGCTGGATATATGATGGGGAGCTTGAGGACACTTACCACGAATTTTTTGTAGCA
TCAGATCCAACAGTTAAAACAGATCGACTGTGGCACGACAAGTATACTTTGAGGAAATCGATGA
TTCCTTCGTTTATGACGATGGATCAGTCTAGGAAGGTCCTTTTGATAGGAAAATCAATAAATTT
CTTGCACCAAGTTTGTCATGATCAGACTCCCACTACAAAGATGATAGCTGTGACCAAGTCTGCA
GAGTCACCCCAGGACGCTGCAGACCTATTCACAGACTTGGAAAATGCATTTCAGGGGAAGATTG
ATGCTGCTTATTTTGAGACCAGCAAATACCTGTTGGATGTTCTCAATAAAAAGTACAGCTTGCT
GGACCACATGCAGGCAATGAGGCGGTACCTGCTTCTTGGTCAAGGAGACTTTATAAGGCACTTA
ATGGACTTGCTAAAACCAGAACTTGTCCGTCCAGCTACGACTTTGTATCAGCATAACTTGACTG
GAATTCTAGAAACCGCTGTCAGAGCCACCAACGCACAGTTTGACAGTCCTGAGATCCTGCGAAG
GCTGGACGTGCGGCTGCTGGAGGTCTCTCCAGGTGACACTGGATGGGATGTCTTCAGCCTCGAT
TATCATGTTGACGGACCAATTGCAACTGTGTTTACTCGAGAATGTATGAGCCACTACCTAAGAG
TATTTAACTTCCTCTGGAGGGCGAAGCGGATGGAATACATCCTCACTGACATACGGAAGGGACA
CATGTGCAATGCAAAGCTCCTGAGAAACATGCCAGAGTTCTCCGGGGTGCTGCACCAGTGTCAC
ATTTTGGCCTCTGAGATGGTCCATTTCATTCATCAGATGCAGTATTACATCACATTTGAGGTGC
TTGAATGTTCTTGGGATGAGCTTTGGAACAAAGTCCAGCAGGCCCAGGATTTGGATCACATCAT
TGCTGCACACGAGGTGTTCTTAGACACCATCATCTCCCGCTGCCTGCTGGACAGTGACTCCAGG
GCACTTTTAAATCAACTTAGAGCTGTGTTTGATCAAATTATTGAACTTCAGAATGCTCAAGATG
CAATATACAGAGCTGCTCTGGAAGAATTGCAGAGACGATTACAGTTTGAAGAGAAAAAGAAACA
GCGTGAAATTGAGACAGGTTGAGATGTGCCTATACTGCGTTTGAAGTCCCGAGAAATCACTGAC
AGTTGTAAAGAGGGAGGGGCCACCCTCACTGGCATCATCATCCTGTTTCACAAAATAAATAAAA
ACAGCAGCATTCATGAGAA

hide sequence

RefSeq Acc Id:

XM_011537462 ⟹ XP_011535764

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,485,011 - 112,588,153 (-)	NCBI

Sequence:

show sequence

TCCGTTAAAATGGCGCCCTGGTGGCCGGCGGCGCCCGCGCCTTAGCCTGTCAGGAGCAGGGAGC
TTGCGGGGCGCAGGAAGGGCGCGGGCCGCGGTCCCTGCGCGTGCGGCGGCAGTGGCGGCTCTGC
CCGGACCACCGTGCACGGCTCCGGGCGAGGATGGCGACCCCGGACCAGAAGTCGCCGAACGTTC
TGCTGCAGAACCTGTGCTGCAGGATCCTGGGCAGGAGCGAAGCTGATGTAGCCCAGCAGTTCCA
GTATGCTGTGCGGGTGATTGGCAGCAACTTCGCCCCAACTGTTGAAAGAGATGAATTTTTAGTA
GCTGAAAAAATCAAGAAAGAGCTTATTCGACAACGAAGAGAAGCAGATGCTGCATTATTTTCAG
AACTCCACAGAAAACTTCATTCACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTT
GCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTTTCTAGCTATGCTACGTTATTT
GCTCAGGCCTTACCAAGAGATGCCCACTCAACCCCTTACTACTATGCCAGGCCTCAGACCCTTC
CCCTGAGCTACCAAGATCGGAGTGCCCAGTCAGCCCAGAGCTCCGGCAGCGTGGGCAGCAGTGG
CATCAGCAGCATTGGCCTGTGTGCCCTCAGTGGCCCCGCGCCTGCGCCACAATCTCTCCTCCCA
GGACAGTCTAATCAAGCTCCAGGAGTAGGAGATTGCCTTCGACAGCAGTTGGGGTCACGACTCG
CATGGACTTTAACTGCAAATCAGCCTTCTTCACAAGCCACTACCTCAAAAGGTGTCCCCAGTGC
TGTGTCTCGCAACATGACAAGGTCCAGGAGAGAAGGGGATACGGGTGGTACTATGGAAATTACA
GAAGCAGCTCTGGTAAGGGACATTTTGTACGTCTTTCAGGGCATAGATGGCAAAAACATCAAAA
TGAACAACACTGAAAATTGTTACAAAGTAGAAGGAAAGGCAAATCTAAGTAGGTCTTTGAGAGA
CACAGCAGTCAGGCTTTCTGAGTTGGGATGGTTGCATAATAAAATCAGAAGATACACGGACCAG
AGGAGCCTGGACCGCTCATTCGGACTCGTCGGGCAGAGCTTTTGTGCTGCCTTGCACCAGGAAC
TCAGAGAATACTATCGATTGCTCTCTGTTTTACATTCTCAGTTTTTTGTAGCATCAGATCCAAC
AGTTAAAACAGATCGACTGTGGCACGACAAGTATACTTTGAGGAAATCGATGATTCCTTCGTTT
ATGACGATGGATCAGTCTAGGAAGGTCCTTTTGATAGGAAAATCAATAAATTTCTTGCACCAAG
TTTGTCATGATCAGACTCCCACTACAAAGATGATAGCTGTGACCAAGTCTGCAGAGTCACCCCA
GGACGCTGCAGACCTATTCACAGACTTGGAAAATGCATTTCAGGGGAAGATTGATGCTGCTTAT
TTTGAGACCAGCAAATACCTGTTGGATGTTCTCAATAAAAAGTACAGCTTGCTGGACCACATGC
AGGCAATGAGGCGGTACCTGCTTCTTGGTCAAGGAGACTTTATAAGGCACTTAATGGACTTGCT
AAAACCAGAACTTGTCCGTCCAGCTACGACTTTGTATCAGCATAACTTGACTGGAATTCTAGAA
ACCGCTGTCAGAGCCACCAACGCACAGTTTGACAGTCCTGAGATCCTGCGAAGGCTGGACGTGC
GGCTGCTGGAGGTCTCTCCAGGTGACACTGGATGGGATGTCTTCAGCCTCGATTATCATGTTGA
CGGACCAATTGCAACTGTGTTTACTCGAGAATGTATGAGCCACTACCTAAGAGTATTTAACTTC
CTCTGGAGGGCGAAGCGGATGGAATACATCCTCACTGACATACGGAAGGGACACATGTGCAATG
CAAAGCTCCTGAGAAACATGCCAGAGTTCTCCGGGGTGCTGCACCAGTGTCACATTTTGGCCTC
TGAGATGGTCCATTTCATTCATCAGATGCAGTATTACATCACATTTGAGGTGCTTGAATGTTCT
TGGGATGAGCTTTGGAACAAAGTCCAGCAGGCCCAGGATTTGGATCACATCATTGCTGCACACG
AGGTGTTCTTAGACACCATCATCTCCCGCTGCCTGCTGGACAGTGACTCCAGGGCACTTTTAAA
TCAACTTAGAGCTGTGTTTGATCAAATTATTGAACTTCAGAATGCTCAAGATGCAATATACAGA
GCTGCTCTGGAAGAATTGCAGAGACGATTACAGTTTGAAGAGAAAAAGAAACAGCGTGAAATTG
AGGGCCAGTGGGGAGTGACGGCAGCAGAGGAAGAGGAGGAAAATAAGAGGATTGGAGAATTTAA
AGAATCTATACCAAAAATGTGCTCACAGTTGCGAATATTGACCCATTTCTACCAGGGTATCGTG
CAGCAGTTTTTGGTGTTACTGACGACCAGCTCTGACGAGAGTCTTCGGTTTCTTAGCTTCAGGC
TGGACTTCAACGAGCATTACAAAGCCAGGGAGCCCAGGCTCCGTGTGTCTCTGGGTACCAGGGG
GCGGCGCAGCTCCCACACGTGAAGCTCGCGGTCCTCCCAGGGAGCTGCGGGTGATGTTCGTTGC
ACTGCTAGACACGAAATTCCCATTGACGTCCTGCAGGAACTGCATGCTGCAGGTGTCCTGCCCT
TCCGCCCACGAGTGCGCCATGTTTCAGCGGAGCGGCGTGTGGGAGAAGCCACGTCGTGTTTCAC
ATGTCGGAGTCGAATGCATTTGTAAATCCCTAAGTCAAGTAGGCTGGCTGCACTGTTCACATTT
GTCTCTAAAAGTCTTCATCGCTAAAAGATACCATAATTTGCTGAGGCTTCTTAAGCTTTCTATG
TTATAATTTATATTTGTCACTTTAAAAAATCCATTTCTTTTAGAAAAAATTAGGGTGATAGGAT
ATTCATTAGTTAAGATGGTAACGTCATTGCTATTTTTTTAACATCCTCTTTAGAGGTAATTTTT
GTTAACATAACCAAAAATTAAATTGAAACAAAATGTCCCAACTAAGAAAATATATAGAGCATTT
TATTTTTTTTTAGTGTTGTAAAATATTAACCTCTGTGAGATCCTTTGTATCTTAATGCATTACC
TTTACACATATTTATTCTTATTTTCTCTCCTTTCAGAGTTTACATTTTTATATTTAATTTACTA
TTTCAGATTTTTAAAATAGTATAGAAAAAAGTAGGAGTGATAGAGAACAAAAATACTCTTATAC
AGTGCAACCCAAATACCGCGAATGCATCAGCTAAAGCAGCGTGTAAATAGGAGTGACGAGAAAG
TTAATGGAGTATTTTATTTTCAAAGTTCCTGATAAGCATTGGAAAGAAATCGACATGGATAATG
AAGATTTCCTTTTTCCTTGCCTATTTTTTCATTGTAAATATTTATATACTACTGACCAAGATGT
TGGGGTGGGGGGGATTGTTTTTTGTAAAAATGTCATTATCAGGTCACATAAATCTGCCTTTATG
TTGCATAAGTGAAAATTTAGAAAATTAAAAGCAATTATCTTTCAGATGCA

hide sequence

RefSeq Acc Id:

XM_017020323 ⟹ XP_016875812

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,485,011 - 112,605,630 (-)	NCBI

Sequence:

show sequence

GGGAAGGGCCTGGCGGGCAAGAGCCTCAGACTGAGGGAAGGAGAGGGCGCCTTTCCGCGCTTCT
GTTTCCCTAGAGGAAGGAAAGAAGTTGAGAAAATTCAGAGCCAAATGTAGATTTTCTCGAGTGC
CTCATTCCCCACAGCGATCTTGCTGGTAACCGGGAGTGTGTTTTTTCTGCATCAAATGCTCAAA
TGCGGTCTTCCAAAATGTTTCCGACTGCGGCAGGAATTTCAAACGAAATCCTCGGAGCTAGAAG
AAGAGTTACAGAAAATCGCGAATTTCCAGGCAACACGCCAGGGATTTGGGGAAGAGAACAGTAA
AACGTAACAGAAATAGCAGCTTCCTGACACGGTGGAAGTCATCTGGCGTCTGTGACATCGTCTT
ACCGACCAGCTGCCCCACTCTGGGACATTTACATCGCTTTGCAGTGGCCGCACTGACGGTCGAC
AGCTGCGCCAGGACTTAAGGCTCCAGCCTGGTCCCCTCCTTGCTTCCCAGCACTGCCTGGTCAA
ATGGTGGAGGACAAAGTGGAGGCAGAAGACGGAGGCGCAGCTGACACGTGGACTAAGGGCTCTC
CAGGCATTCCGACTTCTGAAGAGGTGGCTGACAGCCTGAGCTCCATGGAAAGCTGATGTAGCCC
AGCAGTTCCAGTATGCTGTGCGGGTGATTGGCAGCAACTTCGCCCCAACTGTTGAAAGAGATGA
ATTTTTAGTAGCTGAAAAAATCAAGAAAGAGCTTATTCGACAACGAAGAGAAGCAGATGCTGCA
TTATTTTCAGAACTCCACAGAAAACTTCATTCACAGGGAGTTTTGAAAAATAAATGGTCAATAC
TCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTTTCTAGCTATGC
TACGTTATTTGCTCAGGCCTTACCAAGAGATGCCCACTCAACCCCTTACTACTATGCCAGGCCT
CAGACCCTTCCCCTGAGCTACCAAGATCGGAGTGCCCAGTCAGCCCAGAGCTCCGGCAGCGTGG
GCAGCAGTGGCATCAGCAGCATTGGCCTGTGTGCCCTCAGTGGCCCCGCGCCTGCGCCACAATC
TCTCCTCCCAGGACAGTCTAATCAAGCTCCAGGAGTAGGAGATTGCCTTCGACAGCAGTTGGGG
TCACGACTCGCATGGACTTTAACTGCAAATCAGCCTTCTTCACAAGCCACTACCTCAAAAGGTG
TCCCCAGTGCTGTGTCTCGCAACATGACAAGGTCCAGGAGAGAAGGGGATACGGGTGGTACTAT
GGAAATTACAGAAGCAGCTCTGGTAAGGGACATTTTGTACGTCTTTCAGGGCATAGATGGCAAA
AACATCAAAATGAACAACACTGAAAATTGTTACAAAGTAGAAGGAAAGGCAAATCTAAGTAGGT
CTTTGAGAGACACAGCAGTCAGGCTTTCTGAGTTGGGATGGTTGCATAATAAAATCAGAAGATA
CACGGACCAGAGGAGCCTGGACCGCTCATTCGGACTCGTCGGGCAGAGCTTTTGTGCTGCCTTG
CACCAGGAACTCAGAGAATACTATCGATTGCTCTCTGTTTTACATTCTCAGCTACAACTAGAGG
ATGACCAGGGTGTGAATTTGGGACTTGAGAGTAGTTTAACACTTCGGCGCCTCCTGGTTTGGAC
CTATGATCCCAAAATACGACTGAAGACCCTTGCGGCCCTAGTGGACCACTGCCAAGGAAGGAAA
GGAGGTGAGCTGGCCTCAGCTGTCCACGCCTACACAAAAACAGGAGACCCGTACATGCGGTCTC
TGGTGCAGCACATCCTCAGCCTCGTGTCTCATCCTGTTTTGAGCTTCCTGTACCGCTGGATATA
TGATGGGGAGCTTGAGGACACTTACCACGAATTTTTTGTAGCATCAGATCCAACAGTTAAAACA
GATCGACTGTGGCACGACAAGTATACTTTGAGGAAATCGATGATTCCTTCGTTTATGACGATGG
ATCAGTCTAGGAAGGTCCTTTTGATAGGAAAATCAATAAATTTCTTGCACCAAGTTTGTCATGA
TCAGACTCCCACTACAAAGATGATAGCTGTGACCAAGTCTGCAGAGTCACCCCAGGACGCTGCA
GACCTATTCACAGACTTGGAAAATGCATTTCAGGGGAAGATTGATGCTGCTTATTTTGAGACCA
GCAAATACCTGTTGGATGTTCTCAATAAAAAGTACAGCTTGCTGGACCACATGCAGGCAATGAG
GCGGTACCTGCTTCTTGGTCAAGGAGACTTTATAAGGCACTTAATGGACTTGCTAAAACCAGAA
CTTGTCCGTCCAGCTACGACTTTGTATCAGCATAACTTGACTGGAATTCTAGAAACCGCTGTCA
GAGCCACCAACGCACAGTTTGACAGTCCTGAGATCCTGCGAAGGCTGGACGTGCGGCTGCTGGA
GGTCTCTCCAGGTGACACTGGATGGGATGTCTTCAGCCTCGATTATCATGTTGACGGACCAATT
GCAACTGTGTTTACTCGAGAATGTATGAGCCACTACCTAAGAGTATTTAACTTCCTCTGGAGGG
CGAAGCGGATGGAATACATCCTCACTGACATACGGAAGGGACACATGTGCAATGCAAAGCTCCT
GAGAAACATGCCAGAGTTCTCCGGGGTGCTGCACCAGTGTCACATTTTGGCCTCTGAGATGGTC
CATTTCATTCATCAGATGCAGTATTACATCACATTTGAGGTGCTTGAATGTTCTTGGGATGAGC
TTTGGAACAAAGTCCAGCAGGCCCAGGATTTGGATCACATCATTGCTGCACACGAGGTGTTCTT
AGACACCATCATCTCCCGCTGCCTGCTGGACAGTGACTCCAGGGCACTTTTAAATCAACTTAGA
GCTGTGTTTGATCAAATTATTGAACTTCAGAATGCTCAAGATGCAATATACAGAGCTGCTCTGG
AAGAATTGCAGAGACGATTACAGTTTGAAGAGAAAAAGAAACAGCGTGAAATTGAGGGCCAGTG
GGGAGTGACGGCAGCAGAGGAAGAGGAGGAAAATAAGAGGATTGGAGAATTTAAAGAATCTATA
CCAAAAATGTGCTCACAGTTGCGAATATTGACCCATTTCTACCAGGGTATCGTGCAGCAGTTTT
TGGTGTTACTGACGACCAGCTCTGACGAGAGTCTTCGGTTTCTTAGCTTCAGGCTGGACTTCAA
CGAGCATTACAAAGCCAGGGAGCCCAGGCTCCGTGTGTCTCTGGGTACCAGGGGGCGGCGCAGC
TCCCACACGTGAAGCTCGCGGTCCTCCCAGGGAGCTGCGGGTGATGTTCGTTGCACTGCTAGAC
ACGAAATTCCCATTGACGTCCTGCAGGAACTGCATGCTGCAGGTGTCCTGCCCTTCCGCCCACG
AGTGCGCCATGTTTCAGCGGAGCGGCGTGTGGGAGAAGCCACGTCGTGTTTCACATGTCGGAGT
CGAATGCATTTGTAAATCCCTAAGTCAAGTAGGCTGGCTGCACTGTTCACATTTGTCTCTAAAA
GTCTTCATCGCTAAAAGATACCATAATTTGCTGAGGCTTCTTAAGCTTTCTATGTTATAATTTA
TATTTGTCACTTTAAAAAATCCATTTCTTTTAGAAAAAATTAGGGTGATAGGATATTCATTAGT
TAAGATGGTAACGTCATTGCTATTTTTTTAACATCCTCTTTAGAGGTAATTTTTGTTAACATAA
CCAAAAATTAAATTGAAACAAAATGTCCCAACTAAGAAAATATATAGAGCATTTTATTTTTTTT
TAGTGTTGTAAAATATTAACCTCTGTGAGATCCTTTGTATCTTAATGCATTACCTTTACACATA
TTTATTCTTATTTTCTCTCCTTTCAGAGTTTACATTTTTATATTTAATTTACTATTTCAGATTT
TTAAAATAGTATAGAAAAAAGTAGGAGTGATAGAGAACAAAAATACTCTTATACAGTGCAACCC
AAATACCGCGAATGCATCAGCTAAAGCAGCGTGTAAATAGGAGTGACGAGAAAGTTAATGGAGT
ATTTTATTTTCAAAGTTCCTGATAAGCATTGGAAAGAAATCGACATGGATAATGAAGATTTCCT
TTTTCCTTGCCTATTTTTTCATTGTAAATATTTATATACTACTGACCAAGATGTTGGGGTGGGG
GGGATTGTTTTTTGTAAAAATGTCATTATCAGGTCACATAAATCTGCCTTTATGTTGCATAAGT
GAAAATTTAGAAAATTAAAAGCAATTATCTTTCAGATGCA

hide sequence

RefSeq Acc Id:

XM_047430036 ⟹ XP_047285992

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,498,807 - 112,588,153 (-)	NCBI

RefSeq Acc Id:

XM_047430037 ⟹ XP_047285993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,498,807 - 112,588,153 (-)	NCBI

RefSeq Acc Id:

XM_047430038 ⟹ XP_047285994

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,485,011 - 112,587,421 (-)	NCBI

RefSeq Acc Id:

XM_047430039 ⟹ XP_047285995

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,485,011 - 112,588,153 (-)	NCBI

RefSeq Acc Id:

XM_054374003 ⟹ XP_054229978

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,732,118 - 111,835,553 (-)	NCBI

RefSeq Acc Id:

XM_054374004 ⟹ XP_054229979

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,732,118 - 111,835,832 (-)	NCBI

RefSeq Acc Id:

XM_054374005 ⟹ XP_054229980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,745,922 - 111,835,832 (-)	NCBI

RefSeq Acc Id:

XM_054374006 ⟹ XP_054229981

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,732,118 - 111,835,832 (-)	NCBI

RefSeq Acc Id:

XM_054374007 ⟹ XP_054229982

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,745,922 - 111,835,832 (-)	NCBI

RefSeq Acc Id:

XM_054374008 ⟹ XP_054229983

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,745,922 - 111,835,832 (-)	NCBI

RefSeq Acc Id:

XM_054374009 ⟹ XP_054229984

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,732,118 - 111,854,166 (-)	NCBI

RefSeq Acc Id:

XM_054374010 ⟹ XP_054229985

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,732,118 - 111,854,172 (-)	NCBI

RefSeq Acc Id:

XR_007063655

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,519,937 - 112,588,153 (-)	NCBI

RefSeq Acc Id:

XR_008488725

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	111,767,047 - 111,835,832 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001273206	(Get FASTA)	NCBI Sequence Viewer
	NP_001273207	(Get FASTA)	NCBI Sequence Viewer
	NP_001273208	(Get FASTA)	NCBI Sequence Viewer
	NP_006313	(Get FASTA)	NCBI Sequence Viewer
	XP_005268350	(Get FASTA)	NCBI Sequence Viewer
	XP_011535764	(Get FASTA)	NCBI Sequence Viewer
	XP_016875812	(Get FASTA)	NCBI Sequence Viewer
	XP_047285992	(Get FASTA)	NCBI Sequence Viewer
	XP_047285993	(Get FASTA)	NCBI Sequence Viewer
	XP_047285994	(Get FASTA)	NCBI Sequence Viewer
	XP_047285995	(Get FASTA)	NCBI Sequence Viewer
	XP_054229978	(Get FASTA)	NCBI Sequence Viewer
	XP_054229979	(Get FASTA)	NCBI Sequence Viewer
	XP_054229980	(Get FASTA)	NCBI Sequence Viewer
	XP_054229981	(Get FASTA)	NCBI Sequence Viewer
	XP_054229982	(Get FASTA)	NCBI Sequence Viewer
	XP_054229983	(Get FASTA)	NCBI Sequence Viewer
	XP_054229984	(Get FASTA)	NCBI Sequence Viewer
	XP_054229985	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC39727	(Get FASTA)	NCBI Sequence Viewer
	AAH07763	(Get FASTA)	NCBI Sequence Viewer
	AAH13781	(Get FASTA)	NCBI Sequence Viewer
	AAH46634	(Get FASTA)	NCBI Sequence Viewer
	AAP88774	(Get FASTA)	NCBI Sequence Viewer
	BAG37319	(Get FASTA)	NCBI Sequence Viewer
	BAG63809	(Get FASTA)	NCBI Sequence Viewer
	CAA05832	(Get FASTA)	NCBI Sequence Viewer
	CAA05833	(Get FASTA)	NCBI Sequence Viewer
	EAX09163	(Get FASTA)	NCBI Sequence Viewer
	EAX09164	(Get FASTA)	NCBI Sequence Viewer
	EAX09165	(Get FASTA)	NCBI Sequence Viewer
	EAX09166	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000261965
	ENSP00000261965.3
	ENSP00000364821
	ENSP00000364821.3
	ENSP00000478276
	ENSP00000478276.1
	ENSP00000482912.1
	ENSP00000488256.1
	ENSP00000488264.1
	ENSP00000497715.1
GenBank Protein	Q96CW5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006313 ⟸ NM_006322
- Peptide Label:	isoform 1
- UniProtKB:	Q7Z4K1 (UniProtKB/Swiss-Prot), Q5T8L2 (UniProtKB/Swiss-Prot), O60853 (UniProtKB/Swiss-Prot), O60852 (UniProtKB/Swiss-Prot), O43631 (UniProtKB/Swiss-Prot), Q96I79 (UniProtKB/Swiss-Prot), Q96CW5 (UniProtKB/Swiss-Prot), B4DYP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATPDQKSPNVLLQNLCCRILGRSEADVAQQFQYAVRVIGSNFAPTVERDEFLVAEKIKKELIR QRREADAALFSELHRKLHSQGVLKNKWSILYLLLSLSEDPRRQPSKVSSYATLFAQALPRDAHS TPYYYARPQTLPLSYQDRSAQSAQSSGSVGSSGISSIGLCALSGPAPAPQSLLPGQSNQAPGVG DCLRQQLGSRLAWTLTANQPSSQATTSKGVPSAVSRNMTRSRREGDTGGTMEITEAALVRDILY VFQGIDGKNIKMNNTENCYKVEGKANLSRSLRDTAVRLSELGWLHNKIRRYTDQRSLDRSFGLV GQSFCAALHQELREYYRLLSVLHSQLQLEDDQGVNLGLESSLTLRRLLVWTYDPKIRLKTLAAL VDHCQGRKGGELASAVHAYTKTGDPYMRSLVQHILSLVSHPVLSFLYRWIYDGELEDTYHEFFV ASDPTVKTDRLWHDKYTLRKSMIPSFMTMDQSRKVLLIGKSINFLHQVCHDQTPTTKMIAVTKS AESPQDAADLFTDLENAFQGKIDAAYFETSKYLLDVLNKKYSLLDHMQAMRRYLLLGQGDFIRH LMDLLKPELVRPATTLYQHNLTGILETAVRATNAQFDSPEILRRLDVRLLEVSPGDTGWDVFSL DYHVDGPIATVFTRECMSHYLRVFNFLWRAKRMEYILTDIRKGHMCNAKLLRNMPEFSGVLHQC HILASEMVHFIHQMQYYITFEVLECSWDELWNKVQQAQDLDHIIAAHEVFLDTIISRCLLDSDS RALLNQLRAVFDQIIELQNAQDAIYRAALEELQRRLQFEEKKKQREIEGQWGVTAAEEEEENKR IGEFKESIPKMCSQLRILTHFYQGIVQQFLVLLTTSSDESLRFLSFRLDFNEHYKAREPRLRVS LGTRGRRSSHT hide sequence

RefSeq Acc Id:	XP_005268350 ⟸ XM_005268293
- Peptide Label:	isoform X1
- UniProtKB:	B4DYP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATPDQKSPNVLLQNLCCRILGRSEADVAQQFQYAVRVIGSNFAPTVERDEFLVAEKIKKELIR QRREADAALFSELHRKLHSQGVLKNKWSILYLLLSLSEDPRRQPSKVSSYATLFAQALPRDAHS TPYYYARPQTLPLSYQDRSAQSAQSSGSVGSSGISSIGLCALSGPAPAPQSLLPGQSNQAPGVG DCLRQQLGSRLAWTLTANQPSSQATTSKGVPSAVSRNMTRSRREGDTGGTMEITEAALVRDILY VFQGIDGKNIKMNNTENCYKVEGKANLSRSLRDTAVRLSELGWLHNKIRRYTDQRSLDRSFGLV GQSFCAALHQELREYYRLLSVLHSQLQLEDDQGVNLGLESSLTLRRLLVWTYDPKIRLKTLAAL VDHCQGRKGGELASAVHAYTKTGDPYMRSLVQHILSLVSHPVLSFLYRWIYDGELEDTYHEFFV ASDPTVKTDRLWHDKYTLRKSMIPSFMTMDQSRKVLLIGKSINFLHQVCHDQTPTTKMIAVTKS AESPQDAADLFTDLENAFQGKIDAAYFETSKYLLDVLNKKYSLLDHMQAMRRYLLLGQGDFIRH LMDLLKPELVRPATTLYQHNLTGILETAVRATNAQFDSPEILRRLDVRLLEVSPGDTGWDVFSL DYHVDGPIATVFTRECMSHYLRVFNFLWRAKRMEYILTDIRKGHMCNAKLLRNMPEFSGVLHQC HILASEMVHFIHQMQYYITFEVLECSWDELWNKVQQAQDLDHIIAAHEVFLDTIISRCLLDSDS RALLNQLRAVFDQIIELQNAQDAIYRAALEELQRRLQFEEKKKQREIETG hide sequence

RefSeq Acc Id:	NP_001273206 ⟸ NM_001286277
- Peptide Label:	isoform 2
- UniProtKB:	B4DYP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATPDQKSPNVLLQNLCCRILGRSEADVAQQFQYAVRVIGSNFAPTVERDEFLVAEKIKKELIR QRREADAALFSELHRKLHSQGVLKNKWSILYLLLSLSEDPRRQPSKALPRDAHSTPYYYARPQT LPLSYQDRSAQSAQSSGSVGSSGISSIGLCALSGPAPAPQSLLPGQSNQAPGVGDCLRQQLGSR LAWTLTANQPSSQATTSKGVPSAVSRNMTRSRREGDTGGTMEITEAALVRDILYVFQGIDGKNI KMNNTENCYKVEGKANLSRSLRDTAVRLSELGWLHNKIRRYTDQRSLDRSFGLVGQSFCAALHQ ELREYYRLLSVLHSQLQLEDDQGVNLGLESSLTLRRLLVWTYDPKIRLKTLAALVDHCQGRKGG ELASAVHAYTKTGDPYMRSLVQHILSLVSHPVLSFLYRWIYDGELEDTYHEFFVASDPTVKTDR LWHDKYTLRKSMIPSFMTMDQSRKVLLIGKSINFLHQVCHDQTPTTKMIAVTKSAESPQDAADL FTDLENAFQGKIDAAYFETSKYLLDVLNKKYSLLDHMQAMRRYLLLGQGDFIRHLMDLLKPELV RPATTLYQHNLTGILETAVRATNAQFDSPEILRRLDVRLLEVSPGDTGWDVFSLDYHVDGPIAT VFTRECMSHYLRVFNFLWRAKRMEYILTDIRKGHMCNAKLLRNMPEFSGVLHQCHILASEMVHF IHQMQYYITFEVLECSWDELWNKVQQAQDLDHIIAAHEVFLDTIISRCLLDSDSRALLNQLRAV FDQIIELQNAQDAIYRAALEELQRRLQFEEKKKQREIEGQWGVTAAEEEEENKRIGEFKESIPK MCSQLRILTHFYQGIVQQFLVLLTTSSDESLRFLSFRLDFNEHYKAREPRLRVSLGTRGRRSSH T hide sequence

RefSeq Acc Id:	NP_001273207 ⟸ NM_001286278
- Peptide Label:	isoform 3
- UniProtKB:	B4DYP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATPDQKSPNVLLQNLCCRILGRSEADVAQQFQYAVRVIGSNFAPTVERDEFLVAEKIKKELIR QRREADAALFSELHRKLHSQGVLKNKWSILYLLLSLSEDPRRQPSKVSSYATLFAQALPRDAHS TPYYYARPQTLPLSYQDRSAQSAQSSGSVGSSGISSIGLCALSGPAPAPQSLLPGQSNQAPGVG DCLRQQLGSRLAWTLTANQPSSQATTSKGVPSAVSRNMTRSRREGDTGGTMEITEAALVRDILY VFQGIDGKNIKMNNTENCYKVEGKANLSRSLRDTAVRLSELGWLHNKIRRYTDQRSLDRSFGLV GQSFCAALHQELREYYRLLSVLHSQLQLEDDQGVNLGLESSLTLRRLLVWTYDPKIRLKTLAAL VDHCQGRKGGELASAVHAYTKTGDPYMRSLVQHILSLVSHPVLSFLYRWIYDGELEDTYHEFFV ASDPTVKTDRLWHDKYTLRKSMIPSFMTMDQSRKVLLIGKSINFLHQVCHDQTPTTKMIAVTKS AESPQDAADLFTDLENAFQGKIDAAYFETSKYLLDVLNKKYSLLDHMQAMRRYLLLGQGDFIRH LMDLLKPELVRPATTLYQHNLTGILETAVRATNAQFDSPEILRRLDVRLLEVSPGDTGWDVFSL DYHVDGPIATVFTRECMSHYLRVFNFLWRAKRMEYILTDIRKGHMCNAKLLRNMPEFSGVLHQC HILASEMVHFIHQMQYYITFEVLECSWDELWNKVQQAQDLDHIIAAHEVFLDTIISRCLLDSDS RALLNQLRAVFDQIIELQNAQDAIYRAALEELQRRLQFEEKKKQREIEVEMCLYCV hide sequence

RefSeq Acc Id:	NP_001273208 ⟸ NM_001286279
- Peptide Label:	isoform 4
- UniProtKB:	A0A087WU06 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATPDQKSPNVLLQNLCCRILGRSEADVAQQFQYAVRVIGSNFAPTVERDEFLVAEKIKKELIR QRREADAALFSELHRKLHSQGVLKNKWSILYLLLSLSEDPRRQPSKVSSYATLFAQALPRDAHS TPYYYARPQTLPLSYQDRSAQSAQSSGSVGSSGISSIGLCALSGPAPAPQSLLPGQSNQAPGVG DCLRQQLGSRLAWTLTANQPSSQATTSKGVPSAVSRNMTRSRREGDTGGTMEITEAALVRDILY VFQGIDGKNIKMNNTENCYKVEGKANLSRSLRDTAVRLSELGWLHNKIRRYTDQRSLDRSFGLV GQSFCAALHQELREYYRLLSVLHSQLQLEDDQGVNLGLESSLTLRRLLVWTYDPKIRLKTLAAL VDHCQGPTRVFPTHVFPTRDFPTRDFPTRDFPMHVFPTRVFPTRVWHSLCFRTRL hide sequence

RefSeq Acc Id:	XP_011535764 ⟸ XM_011537462
- Peptide Label:	isoform X2
- UniProtKB:	B4DYP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATPDQKSPNVLLQNLCCRILGRSEADVAQQFQYAVRVIGSNFAPTVERDEFLVAEKIKKELIR QRREADAALFSELHRKLHSQGVLKNKWSILYLLLSLSEDPRRQPSKVSSYATLFAQALPRDAHS TPYYYARPQTLPLSYQDRSAQSAQSSGSVGSSGISSIGLCALSGPAPAPQSLLPGQSNQAPGVG DCLRQQLGSRLAWTLTANQPSSQATTSKGVPSAVSRNMTRSRREGDTGGTMEITEAALVRDILY VFQGIDGKNIKMNNTENCYKVEGKANLSRSLRDTAVRLSELGWLHNKIRRYTDQRSLDRSFGLV GQSFCAALHQELREYYRLLSVLHSQFFVASDPTVKTDRLWHDKYTLRKSMIPSFMTMDQSRKVL LIGKSINFLHQVCHDQTPTTKMIAVTKSAESPQDAADLFTDLENAFQGKIDAAYFETSKYLLDV LNKKYSLLDHMQAMRRYLLLGQGDFIRHLMDLLKPELVRPATTLYQHNLTGILETAVRATNAQF DSPEILRRLDVRLLEVSPGDTGWDVFSLDYHVDGPIATVFTRECMSHYLRVFNFLWRAKRMEYI LTDIRKGHMCNAKLLRNMPEFSGVLHQCHILASEMVHFIHQMQYYITFEVLECSWDELWNKVQQ AQDLDHIIAAHEVFLDTIISRCLLDSDSRALLNQLRAVFDQIIELQNAQDAIYRAALEELQRRL QFEEKKKQREIEGQWGVTAAEEEEENKRIGEFKESIPKMCSQLRILTHFYQGIVQQFLVLLTTS SDESLRFLSFRLDFNEHYKAREPRLRVSLGTRGRRSSHT hide sequence

RefSeq Acc Id:

XP_016875812 ⟸ XM_017020323

- Peptide Label:

isoform X5

- Sequence:

show sequence

MTRSRREGDTGGTMEITEAALVRDILYVFQGIDGKNIKMNNTENCYKVEGKANLSRSLRDTAVR
LSELGWLHNKIRRYTDQRSLDRSFGLVGQSFCAALHQELREYYRLLSVLHSQLQLEDDQGVNLG
LESSLTLRRLLVWTYDPKIRLKTLAALVDHCQGRKGGELASAVHAYTKTGDPYMRSLVQHILSL
VSHPVLSFLYRWIYDGELEDTYHEFFVASDPTVKTDRLWHDKYTLRKSMIPSFMTMDQSRKVLL
IGKSINFLHQVCHDQTPTTKMIAVTKSAESPQDAADLFTDLENAFQGKIDAAYFETSKYLLDVL
NKKYSLLDHMQAMRRYLLLGQGDFIRHLMDLLKPELVRPATTLYQHNLTGILETAVRATNAQFD
SPEILRRLDVRLLEVSPGDTGWDVFSLDYHVDGPIATVFTRECMSHYLRVFNFLWRAKRMEYIL
TDIRKGHMCNAKLLRNMPEFSGVLHQCHILASEMVHFIHQMQYYITFEVLECSWDELWNKVQQA
QDLDHIIAAHEVFLDTIISRCLLDSDSRALLNQLRAVFDQIIELQNAQDAIYRAALEELQRRLQ
FEEKKKQREIEGQWGVTAAEEEEENKRIGEFKESIPKMCSQLRILTHFYQGIVQQFLVLLTTSS
DESLRFLSFRLDFNEHYKAREPRLRVSLGTRGRRSSHT

hide sequence

RefSeq Acc Id:

ENSP00000497715 ⟸ ENST00000649778

RefSeq Acc Id:

ENSP00000478276 ⟸ ENST00000464139

RefSeq Acc Id:

ENSP00000482912 ⟸ ENST00000611152

RefSeq Acc Id:

ENSP00000364821 ⟸ ENST00000375669

RefSeq Acc Id:

ENSP00000261965 ⟸ ENST00000261965

RefSeq Acc Id:	XP_047285995 ⟸ XM_047430039
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_047285994 ⟸ XM_047430038
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_047285992 ⟸ XM_047430036
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_047285993 ⟸ XM_047430037
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054229985 ⟸ XM_054374010
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054229984 ⟸ XM_054374009
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054229981 ⟸ XM_054374006
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054229979 ⟸ XM_054374004
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_054229978 ⟸ XM_054374003
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_054229982 ⟸ XM_054374007
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054229983 ⟸ XM_054374008
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054229980 ⟸ XM_054374005
- Peptide Label:	isoform X1

Protein Domains

Gamma tubulin complex component C-terminal Gamma tubulin complex component protein N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96CW5-F1-model_v2	AlphaFold	Q96CW5	1-907	view protein structure

Promoters

RGD ID:

6791176

Promoter ID:

HG_KWN:18596

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000045830

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	13	112,249,161 - 112,249,661 (-)	MPROMDB

RGD ID:

6791175

Promoter ID:

HG_KWN:18597

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000045829

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	13	112,289,831 - 112,290,537 (-)	MPROMDB

RGD ID:

6791174

Promoter ID:

HG_KWN:18598

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:

OTTHUMT00000045825, OTTHUMT00000045826, UC001VSG.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	13	112,290,391 - 112,291,292 (-)	MPROMDB

RGD ID:

7226859

Promoter ID:

EPDNEW_H19175

Type:

initiation region

Name:

TUBGCP3_1

Description:

tubulin gamma complex associated protein 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19176

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,588,151 - 112,588,211	EPDNEW

RGD ID:

7226867

Promoter ID:

EPDNEW_H19176

Type:

initiation region

Name:

TUBGCP3_2

Description:

tubulin gamma complex associated protein 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19175

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	112,588,271 - 112,588,331	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18598	AgrOrtholog
COSMIC	TUBGCP3	COSMIC
Ensembl Genes	ENSG00000126216	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000282003	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000261965	ENTREZGENE
	ENST00000261965.8	UniProtKB/Swiss-Prot
	ENST00000375669	ENTREZGENE
	ENST00000375669.7	UniProtKB/Swiss-Prot
	ENST00000464139	ENTREZGENE
	ENST00000464139.5	UniProtKB/TrEMBL
	ENST00000611152.1	UniProtKB/TrEMBL
	ENST00000631451.1	UniProtKB/TrEMBL
	ENST00000633234.1	UniProtKB/TrEMBL
	ENST00000649778.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.120.1900	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000126216	GTEx
	ENSG00000282003	GTEx
HGNC ID	HGNC:18598	ENTREZGENE
Human Proteome Map	TUBGCP3	Human Proteome Map
InterPro	GCP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GCP_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GCP_C_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GCP_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10426	UniProtKB/Swiss-Prot
NCBI Gene	10426	ENTREZGENE
OMIM	617818	OMIM
PANTHER	GAMMA-TUBULIN COMPLEX COMPONENT 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR19302	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	GCP_C_terminal	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GCP_N_terminal	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38597	PharmGKB
UniProt	A0A087WU06	ENTREZGENE, UniProtKB/TrEMBL
	A0A087WZV5_HUMAN	UniProtKB/TrEMBL
	A0A0J9YX56_HUMAN	UniProtKB/TrEMBL
	A0A0J9YX63_HUMAN	UniProtKB/TrEMBL
	A0A3B3ITE3_HUMAN	UniProtKB/TrEMBL
	B4DYP7	ENTREZGENE, UniProtKB/TrEMBL
	GCP3_HUMAN	UniProtKB/Swiss-Prot
	O43631	ENTREZGENE
	O60852	ENTREZGENE
	O60853	ENTREZGENE
	Q5T8L2	ENTREZGENE
	Q7Z4K1	ENTREZGENE
	Q96CW5	ENTREZGENE
	Q96I79	ENTREZGENE
UniProt Secondary	O43631	UniProtKB/Swiss-Prot
	O60852	UniProtKB/Swiss-Prot
	O60853	UniProtKB/Swiss-Prot
	Q5T8L2	UniProtKB/Swiss-Prot
	Q7Z4K1	UniProtKB/Swiss-Prot
	Q96I79	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-06-19	TUBGCP3	tubulin gamma complex component 3	TUBGCP3	tubulin gamma complex associated protein 3	Symbol and/or name change	19259463	PROVISIONAL
2015-12-22	TUBGCP3	tubulin gamma complex associated protein 3		tubulin, gamma complex associated protein 3	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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