TP53I13 (tumor protein p53 inducible protein 13)

Gene: TP53I13 (tumor protein p53 inducible protein 13) Homo sapiens

Analyze

Symbol:

TP53I13

Name:

tumor protein p53 inducible protein 13

RGD ID:

1605319

HGNC Page

HGNC:25102

Description:

Involved in several processes, including negative regulation of cell cycle; response to UV; and response to xenobiotic stimulus. Located in cytoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

damage-stimulated cytoplasmic protein 1; DSCP1; tumor protein p53-inducible protein 13

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	29,566,300 - 29,582,340 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	29,566,052 - 29,573,157 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	27,895,294 - 27,900,175 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	24,919,865 - 24,924,301 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	24,756,546 - 24,761,040 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	24,105,093 - 24,109,514 (+)	NCBI		HuRef
CHM1_1	17	27,958,401 - 27,962,837 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	30,510,000 - 30,525,212 (+)	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

Developmental Disease (IAGP)

genetic disease (IAGP)

neurofibromatosis 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

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

3,3',4,4'-tetrachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

acetylsalicylic acid (EXP)

all-trans-retinoic acid (ISO)

alpha-Zearalanol (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium atom (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

cyclosporin A (EXP)

dicrotophos (EXP)

diuron (EXP)

doxorubicin (EXP)

gentamycin (ISO)

methyl methanesulfonate (EXP)

paracetamol (ISO)

perfluorooctanoic acid (ISO)

pirinixic acid (EXP,ISO)

sunitinib (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of cell cycle (IDA)

response to organic cyclic compound (IEP)

response to UV (IEP)

response to xenobiotic stimulus (IEP)

Cellular Component

cytoplasm (IBA,IDA,IEA)

membrane (IEA)

plasma membrane (IEA)

Molecular Function

molecular_function (ND)

protein binding (IPI)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:14767535	PMID:16303743	PMID:21873635	PMID:28514442	PMID:32296183	PMID:33961781	PMID:35748872

Genomics

Comparative Map Data

TP53I13
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	29,566,300 - 29,582,340 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	29,566,052 - 29,573,157 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	27,895,294 - 27,900,175 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	24,919,865 - 24,924,301 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	24,756,546 - 24,761,040 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	24,105,093 - 24,109,514 (+)	NCBI		HuRef
CHM1_1	17	27,958,401 - 27,962,837 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	30,510,000 - 30,525,212 (+)	NCBI		T2T-CHM13v2.0

Trp53i13
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	77,398,925 - 77,404,214 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	77,398,925 - 77,406,806 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	77,508,099 - 77,515,921 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	77,508,099 - 77,515,980 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	77,321,601 - 77,326,775 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	77,324,294 - 77,329,468 (-)	NCBI		MGSCv36	mm8
Celera	11	85,006,660 - 85,011,834 (-)	NCBI		Celera
Cytogenetic Map	11	B5	NCBI
cM Map	11	46.62	NCBI

Tp53i13
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	62,854,851 - 62,861,241 (-)	NCBI		GRCr8
mRatBN7.2	10	62,356,722 - 62,363,122 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	62,356,722 - 62,361,343 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	67,006,522 - 67,010,883 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	66,512,008 - 66,516,369 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	61,985,260 - 61,989,881 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	62,650,640 - 62,655,327 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	62,650,719 - 62,655,362 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	62,347,086 - 62,352,210 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	66,604,992 - 66,609,609 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	61,360,147 - 61,364,512 (-)	NCBI		Celera
Cytogenetic Map	10	q24	NCBI

Tp53i13
(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_004955481	3,681,724 - 3,685,051 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955481	3,681,495 - 3,685,051 (-)	NCBI	ChiLan1.0	ChiLan1.0

TP53I13
(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	19	34,883,251 - 34,887,987 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	36,765,494 - 36,770,239 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	27,201,464 - 27,207,347 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	27,718,175 - 27,722,447 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	27,718,175 - 27,722,447 (-)	Ensembl	panpan1.1		panPan2

TP53I13
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	43,671,184 - 43,676,330 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	43,671,229 - 43,676,983 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	42,824,207 - 42,829,434 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	44,487,285 - 44,492,525 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	44,487,415 - 44,492,525 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	43,271,698 - 43,276,894 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	43,562,413 - 43,567,597 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	43,642,444 - 43,647,674 (+)	NCBI		UU_Cfam_GSD_1.0

Tp53i13
(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_024405602	42,802,119 - 42,805,869 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936538	5,680,045 - 5,684,397 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936538	5,680,048 - 5,683,814 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TP53I13
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	45,763,614 - 45,768,156 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	45,763,680 - 45,767,755 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	47,714,450 - 47,718,807 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TP53I13
(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	16	23,307,144 - 23,313,272 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	23,308,112 - 23,313,264 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	6,759,184 - 6,764,281 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tp53i13
(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_004624786	2,067,232 - 2,070,851 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624786	2,065,682 - 2,071,089 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TP53I13
45 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	copy number loss	See cases [RCV000143027]	Chr17:28947825..32490020 [GRCh38] Chr17:27274843..30817038 [GRCh37] Chr17:24298969..27841151 [NCBI36] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	copy number gain	not provided [RCV000762776]	Chr17:25403446..31685464 [GRCh37] Chr17:17q11.1-11.2	likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_138349.4(TP53I13):c.314C>G (p.Pro105Arg)	single nucleotide variant	not specified [RCV004319115]	Chr17:29571858 [GRCh38] Chr17:27898876 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	copy number loss	Mitogen-activated protein kinase kinase inhibitor response [RCV000626439]	Chr17:25248166..30645676 [GRCh37] Chr17:17q11.1-11.2	drug response
NM_014030.4(GIT1):c.1751C>T (p.Thr584Met)	single nucleotide variant	Inborn genetic diseases [RCV003252855]	Chr17:29575813 [GRCh38] Chr17:27902831 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1039A>G (p.Ile347Val)	single nucleotide variant	Inborn genetic diseases [RCV003279296]	Chr17:29577190 [GRCh38] Chr17:27904208 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
NM_198147.3(ABHD15):c.578G>C (p.Arg193Pro)	single nucleotide variant	not specified [RCV004284084]	Chr17:29566389 [GRCh38] Chr17:27893407 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.169G>A (p.Val57Met)	single nucleotide variant	not specified [RCV004293943]	Chr17:29569345 [GRCh38] Chr17:27896363 [GRCh37] Chr17:17q11.2	likely benign
NM_138349.4(TP53I13):c.464C>T (p.Ser155Phe)	single nucleotide variant	not specified [RCV004290720]	Chr17:29572008 [GRCh38] Chr17:27899026 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	copy number gain	not provided [RCV001006886]	Chr17:25274363..28450707 [GRCh37] Chr17:17q11.1-11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3	copy number gain	not provided [RCV001259333]	Chr17:27573641..28206747 [GRCh37] Chr17:17q11.2	uncertain significance
NC_000017.10:g.(?_27573882)_(29576157_?)del	deletion	Neurofibromatosis, type 1 [RCV003109263]	Chr17:27573882..29576157 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	copy number gain	not specified [RCV002052591]	Chr17:21690653..28281232 [GRCh37] Chr17:17p11.2-q11.2	pathogenic
NM_014030.4(GIT1):c.1110T>G (p.Ser370=)	single nucleotide variant	not provided [RCV000890258]	Chr17:29576980 [GRCh38] Chr17:27903998 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.1568dup (p.Gly524fs)	duplication	Developmental disorder [RCV001843818]	Chr17:29576262..29576263 [GRCh38] Chr17:27903280..27903281 [GRCh37] Chr17:17q11.2	uncertain significance
NC_000017.10:g.(?_26684694)_(29701173_?)dup	duplication	not provided [RCV003123018]	Chr17:26684694..29701173 [GRCh37] Chr17:17q11.2	uncertain significance
NM_198147.3(ABHD15):c.439G>A (p.Gly147Ser)	single nucleotide variant	not specified [RCV004313844]	Chr17:29566528 [GRCh38] Chr17:27893546 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.710C>T (p.Ala237Val)	single nucleotide variant	not specified [RCV004329118]	Chr17:29572338 [GRCh38] Chr17:27899356 [GRCh37] Chr17:17q11.2	likely benign
NM_198147.3(ABHD15):c.560A>G (p.Tyr187Cys)	single nucleotide variant	not specified [RCV004081003]	Chr17:29566407 [GRCh38] Chr17:27893425 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.508G>A (p.Val170Met)	single nucleotide variant	not specified [RCV004133164]	Chr17:29572052 [GRCh38] Chr17:27899070 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.28C>G (p.Leu10Val)	single nucleotide variant	not specified [RCV004135763]	Chr17:29568786 [GRCh38] Chr17:27895804 [GRCh37] Chr17:17q11.2	uncertain significance
NM_198147.3(ABHD15):c.565G>T (p.Val189Phe)	single nucleotide variant	not specified [RCV004121934]	Chr17:29566402 [GRCh38] Chr17:27893420 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.914C>G (p.Pro305Arg)	single nucleotide variant	not specified [RCV004199519]	Chr17:29572542 [GRCh38] Chr17:27899560 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.830G>A (p.Ser277Asn)	single nucleotide variant	not specified [RCV004214213]	Chr17:29572458 [GRCh38] Chr17:27899476 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.538C>T (p.Arg180Trp)	single nucleotide variant	not specified [RCV004152041]	Chr17:29572166 [GRCh38] Chr17:27899184 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.370T>C (p.Trp124Arg)	single nucleotide variant	not specified [RCV004245573]	Chr17:29571914 [GRCh38] Chr17:27898932 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.642G>C (p.Gln214His)	single nucleotide variant	not specified [RCV004102231]	Chr17:29572270 [GRCh38] Chr17:27899288 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1462G>A (p.Ala488Thr)	single nucleotide variant	Inborn genetic diseases [RCV002976991]	Chr17:29576369 [GRCh38] Chr17:27903387 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.931G>T (p.Ala311Ser)	single nucleotide variant	not specified [RCV004207895]	Chr17:29572559 [GRCh38] Chr17:27899577 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1364G>A (p.Arg455Gln)	single nucleotide variant	Inborn genetic diseases [RCV002662216]	Chr17:29576538 [GRCh38] Chr17:27903556 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.556C>G (p.Leu186Val)	single nucleotide variant	Inborn genetic diseases [RCV002799603]	Chr17:29581994 [GRCh38] Chr17:27909012 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1447C>T (p.Leu483Phe)	single nucleotide variant	Inborn genetic diseases [RCV002911597]	Chr17:29576384 [GRCh38] Chr17:27903402 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.932C>T (p.Ala311Val)	single nucleotide variant	Inborn genetic diseases [RCV002662254]	Chr17:29577694 [GRCh38] Chr17:27904712 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.649C>T (p.Arg217Cys)	single nucleotide variant	not specified [RCV004074396]	Chr17:29572277 [GRCh38] Chr17:27899295 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.69C>G (p.Ser23Arg)	single nucleotide variant	not specified [RCV004168603]	Chr17:29568827 [GRCh38] Chr17:27895845 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.860C>T (p.Ala287Val)	single nucleotide variant	not specified [RCV004238959]	Chr17:29572488 [GRCh38] Chr17:27899506 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.103G>A (p.Ala35Thr)	single nucleotide variant	not specified [RCV004199043]	Chr17:29569048 [GRCh38] Chr17:27896066 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1241C>T (p.Ser414Leu)	single nucleotide variant	Inborn genetic diseases [RCV002803665]	Chr17:29576661 [GRCh38] Chr17:27903679 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.49G>T (p.Ala17Ser)	single nucleotide variant	not specified [RCV004097907]	Chr17:29568807 [GRCh38] Chr17:27895825 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1226G>A (p.Arg409Gln)	single nucleotide variant	Inborn genetic diseases [RCV002941404]	Chr17:29576864 [GRCh38] Chr17:27903882 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1663C>T (p.Arg555Trp)	single nucleotide variant	Inborn genetic diseases [RCV002651972]	Chr17:29576080 [GRCh38] Chr17:27903098 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.739A>G (p.Ile247Val)	single nucleotide variant	Inborn genetic diseases [RCV002746961]	Chr17:29581360 [GRCh38] Chr17:27908378 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.1141C>T (p.Pro381Ser)	single nucleotide variant	not specified [RCV004093961]	Chr17:29572883 [GRCh38] Chr17:27899901 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.878C>T (p.Ala293Val)	single nucleotide variant	not specified [RCV004320916]	Chr17:29572506 [GRCh38] Chr17:27899524 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1463C>T (p.Ala488Val)	single nucleotide variant	Inborn genetic diseases [RCV003176044]	Chr17:29576368 [GRCh38] Chr17:27903386 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.2119G>A (p.Ala707Thr)	single nucleotide variant	Inborn genetic diseases [RCV003204163]	Chr17:29574869 [GRCh38] Chr17:27901887 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.527C>A (p.Ala176Asp)	single nucleotide variant	not specified [RCV004255829]	Chr17:29572155 [GRCh38] Chr17:27899173 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.1054C>G (p.Gln352Glu)	single nucleotide variant	not specified [RCV004258433]	Chr17:29572682 [GRCh38] Chr17:27899700 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.500G>C (p.Arg167Thr)	single nucleotide variant	not specified [RCV004251371]	Chr17:29572044 [GRCh38] Chr17:27899062 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.286C>T (p.Pro96Ser)	single nucleotide variant	not specified [RCV004347680]	Chr17:29571693 [GRCh38] Chr17:27898711 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1834G>T (p.Gly612Trp)	single nucleotide variant	Inborn genetic diseases [RCV003369247]	Chr17:29575463 [GRCh38] Chr17:27902481 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1415G>A (p.Arg472Gln)	single nucleotide variant	not provided [RCV003428209]	Chr17:29576416 [GRCh38] Chr17:27903434 [GRCh37] Chr17:17q11.2	likely benign
NM_198147.3(ABHD15):c.46G>C (p.Ala16Pro)	single nucleotide variant	not provided [RCV003413188]	Chr17:29566921 [GRCh38] Chr17:27893939 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.2010-4G>A	single nucleotide variant	GIT1-related condition [RCV003939572]	Chr17:29575146 [GRCh38] Chr17:27902164 [GRCh37] Chr17:17q11.2	likely benign
NM_198147.3(ABHD15):c.145G>A (p.Glu49Lys)	single nucleotide variant	not specified [RCV004422930]	Chr17:29566822 [GRCh38] Chr17:27893840 [GRCh37] Chr17:17q11.2	uncertain significance
NM_198147.3(ABHD15):c.413A>C (p.Asp138Ala)	single nucleotide variant	not specified [RCV004422933]	Chr17:29566554 [GRCh38] Chr17:27893572 [GRCh37] Chr17:17q11.2	uncertain significance
NM_198147.3(ABHD15):c.550C>T (p.Arg184Cys)	single nucleotide variant	not specified [RCV004422943]	Chr17:29566417 [GRCh38] Chr17:27893435 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1545C>T (p.Ala515=)	single nucleotide variant	GIT1-related condition [RCV003904128]	Chr17:29576286 [GRCh38] Chr17:27903304 [GRCh37] Chr17:17q11.2	likely benign
NM_198147.3(ABHD15):c.44T>C (p.Leu15Pro)	single nucleotide variant	not specified [RCV004422941]	Chr17:29566923 [GRCh38] Chr17:27893941 [GRCh37] Chr17:17q11.2	uncertain significance
NM_198147.3(ABHD15):c.638C>A (p.Ser213Tyr)	single nucleotide variant	not specified [RCV004422954]	Chr17:29566329 [GRCh38] Chr17:27893347 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1548G>C (p.Leu516=)	single nucleotide variant	GIT1-related condition [RCV003914495]	Chr17:29576283 [GRCh38] Chr17:27903301 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.750G>A (p.Gln250=)	single nucleotide variant	GIT1-related condition [RCV003921500]	Chr17:29581349 [GRCh38] Chr17:27908367 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.663G>A (p.Glu221=)	single nucleotide variant	GIT1-related condition [RCV003931483]	Chr17:29581797 [GRCh38] Chr17:27908815 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.1254C>T (p.Asp418=)	single nucleotide variant	GIT1-related condition [RCV003951879]	Chr17:29576648 [GRCh38] Chr17:27903666 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.2151G>A (p.Arg717=)	single nucleotide variant	GIT1-related condition [RCV003961836]	Chr17:29574837 [GRCh38] Chr17:27901855 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.*3TC[2]	microsatellite	GIT1-related condition [RCV003917220]	Chr17:29574694..29574695 [GRCh38] Chr17:27901712..27901713 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.1641G>A (p.Val547=)	single nucleotide variant	GIT1-related condition [RCV003929767]	Chr17:29576102 [GRCh38] Chr17:27903120 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.1866A>G (p.Glu622=)	single nucleotide variant	GIT1-related condition [RCV003967106]	Chr17:29575431 [GRCh38] Chr17:27902449 [GRCh37] Chr17:17q11.2	likely benign
NM_014030.4(GIT1):c.1200C>T (p.Thr400=)	single nucleotide variant	GIT1-related condition [RCV003926897]	Chr17:29576890 [GRCh38] Chr17:27903908 [GRCh37] Chr17:17q11.2	benign
NM_138349.4(TP53I13):c.1004G>A (p.Arg335Lys)	single nucleotide variant	not specified [RCV004468293]	Chr17:29572632 [GRCh38] Chr17:27899650 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.766C>T (p.Pro256Ser)	single nucleotide variant	not specified [RCV004468298]	Chr17:29572394 [GRCh38] Chr17:27899412 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.1070C>A (p.Ala357Asp)	single nucleotide variant	not specified [RCV004468294]	Chr17:29572812 [GRCh38] Chr17:27899830 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1592T>C (p.Leu531Pro)	single nucleotide variant	Inborn genetic diseases [RCV004390732]	Chr17:29576239 [GRCh38] Chr17:27903257 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1708T>G (p.Ser570Ala)	single nucleotide variant	Inborn genetic diseases [RCV004390734]	Chr17:29575856 [GRCh38] Chr17:27902874 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.775G>A (p.Glu259Lys)	single nucleotide variant	Inborn genetic diseases [RCV004390740]	Chr17:29578766 [GRCh38] Chr17:27905784 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.13C>T (p.Pro5Ser)	single nucleotide variant	not specified [RCV004468295]	Chr17:29568771 [GRCh38] Chr17:27895789 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.263G>T (p.Cys88Phe)	single nucleotide variant	not specified [RCV004468296]	Chr17:29571670 [GRCh38] Chr17:27898688 [GRCh37] Chr17:17q11.2	uncertain significance
NM_138349.4(TP53I13):c.311G>A (p.Arg104Gln)	single nucleotide variant	not specified [RCV004468297]	Chr17:29571718 [GRCh38] Chr17:27898736 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1844T>A (p.Phe615Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004390736]	Chr17:29575453 [GRCh38] Chr17:27902471 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1100T>C (p.Leu367Pro)	single nucleotide variant	Inborn genetic diseases [RCV004390728]	Chr17:29576990 [GRCh38] Chr17:27904008 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1556T>A (p.Phe519Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004390731]	Chr17:29576275 [GRCh38] Chr17:27903293 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.2129A>G (p.Tyr710Cys)	single nucleotide variant	Inborn genetic diseases [RCV004390737]	Chr17:29574859 [GRCh38] Chr17:27901877 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1156G>A (p.Val386Met)	single nucleotide variant	Inborn genetic diseases [RCV004390729]	Chr17:29576934 [GRCh38] Chr17:27903952 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1639G>T (p.Val547Leu)	single nucleotide variant	Inborn genetic diseases [RCV004390733]	Chr17:29576104 [GRCh38] Chr17:27903122 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.548C>G (p.Ala183Gly)	single nucleotide variant	Inborn genetic diseases [RCV004390739]	Chr17:29582002 [GRCh38] Chr17:27909020 [GRCh37] Chr17:17q11.2	uncertain significance
NM_014030.4(GIT1):c.1790A>C (p.Asp597Ala)	single nucleotide variant	Inborn genetic diseases [RCV003357860]	Chr17:29575666 [GRCh38] Chr17:27902684 [GRCh37] Chr17:17q11.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4351
Count of miRNA genes:	973
Interacting mature miRNAs:	1206
Transcripts:	ENST00000301057, ENST00000378818, ENST00000577934, ENST00000578073, ENST00000578749, ENST00000579674, ENST00000580132, ENST00000580183, ENST00000581411, ENST00000582829, ENST00000583940, ENST00000584522
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

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

2399

2616

1628

539

1352

382

3997

1750

2095

341

1427

1572

173

1204

2445

Low

375

595

360

447

1639

343

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001346077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001346082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_138349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451018	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB110209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB110214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC104564	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093030	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL551604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS051131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000301057 ⟹ ENSP00000301057

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,568,701 - 29,573,157 (+)	Ensembl

RefSeq Acc Id:

ENST00000378818 ⟹ ENSP00000368095

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,572,430 - 29,573,157 (+)	Ensembl

RefSeq Acc Id:

ENST00000577934 ⟹ ENSP00000462026

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,568,517 - 29,572,307 (+)	Ensembl

RefSeq Acc Id:

ENST00000578073

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,566,052 - 29,568,341 (+)	Ensembl

RefSeq Acc Id:

ENST00000578749 ⟹ ENSP00000468265

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,568,047 - 29,572,288 (+)	Ensembl

RefSeq Acc Id:

ENST00000579674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,570,689 - 29,573,156 (+)	Ensembl

RefSeq Acc Id:

ENST00000580132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,568,760 - 29,569,392 (+)	Ensembl

RefSeq Acc Id:

ENST00000580183 ⟹ ENSP00000466027

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,568,027 - 29,572,259 (+)	Ensembl

RefSeq Acc Id:

ENST00000581411 ⟹ ENSP00000462693

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,568,591 - 29,572,173 (+)	Ensembl

RefSeq Acc Id:

ENST00000582829 ⟹ ENSP00000465112

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,568,056 - 29,572,229 (+)	Ensembl

RefSeq Acc Id:

ENST00000583940 ⟹ ENSP00000465824

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,567,180 - 29,571,702 (+)	Ensembl

RefSeq Acc Id:

ENST00000584522

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	29,566,301 - 29,567,491 (+)	Ensembl

RefSeq Acc Id:

NM_001346077 ⟹ NP_001333006

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,276 - 29,573,157 (+)	NCBI
T2T-CHM13v2.0	17	30,511,145 - 30,516,033 (+)	NCBI

Sequence:

show sequence

AGGTCACACCGACAAATCTGAAGCGGGTTTGCCAGGGGAGTGTACCCGTCTCCCCAGCCTGGGC
CACCCGGTCCACAGGGATTCCATTTCCGGCCTTACACTCCGCTCCACGATCTCATCCAGGCGCT
GCAGCTGTGCAGCTGCTCTACAGACTGCAGGGACCTGCTGAGACGAATCCCCGGACGAGGAAAG
GGGCCCCCCGCCTGCCCTACTGAGCCTTGCGCGCTGACCCGGTTCCTACACTTAACTTTTCCGG
CTTCGGGTTTAAGACGCGTGATGGCTGGACCGGCGGAGGAGGCGGGAGCCCATTGTCCCGAGAG
CCTGTGGCCTCTGCCTCCGCAGGTGTCACCAAGAGTGACCTACACACGAGTGAGCCCAGGGCAG
GCTGAGGATGTCACCTTCCTCTACCACCCCTGTGCCCATCCCTGGCTGAAGCTCCAGCTTGCCC
TCCTGGCCTATGCTTGTATGGCTAACCCTTCCCTCACCCCTGACTTCAGCCTCACGCAGGATCG
GCCCCTGGTGCTGACTGCATGGGGGCTGGCGCTGGAGATGGCCTGGGTAGAGCCAGCCTGGGCT
GCCCACTGGCTGATGAGGAGGCGGAGGAGGAAGCAGAGGAAGAAGAAGGCATGGATCTACTGTG
AAAGCCTTTCAGGGCCTGCTCCCTCCGAGCCAACTCCCGGTAGAGGGAGGCTGTGCCGAAGAGG
GTGTGTGCAGGCCCTGGCTCTGGCCTTTGCTCTGCGGAGCTGGCGGCCCCCTGGCACAGAGGTG
ACATCTCAAGGGCCCAGGCAGCCCTCTTCTAGTGGTGCCAAGAGGCGGAGGCTGCGGGCTGCCC
TTGGTCCCCAGCCCACTCGCTCAGCCCTGAGGTTTCCCTCTGCTTCCCCAGGGAGCTTGAAGGC
CAAGCAGTCCATGGCGGGAATCCCTGGTAGGGAGAGTAATGCCCCATCTGTGCCCACTGTCTCC
CTGCTGCCGGGGGCGCCTGGAGGCAATGCCAGCTCCAGGACAGAGGCTCAGGTGCCCAACGGGC
AAGGCAGCCCAGGGGGCTGTGTCTGTTCAAGTCAGGCTTCCCCGGCCCCTCGCGCAGCAGCGCC
TCCACGGGCAGCCCGGGGCCCCACCCCACGCACTGAAGAGGCCGCCTGGGCTGCCATGGCCCTG
ACCTTCCTGCTGGTGCTGCTCACCCTGGCCACGCTCTGCACACGGCTGCACAGAAACTTCCGAC
GCGGGGAGAGCATCTACTGGGGGCCCACAGCGGACAGCCAGGACACAGTGGCTGCTGTGCTGAA
GCGGAGGCTGCTGCAGCCCTCGCGCCGGGTCAAGCGCTCGCGCCGGAGACCCCTCCTCCCGCCC
ACGCCGGACAGCGGCCCGGAAGGCGAGAGCTCGGAGTGACGGCCTGGGACCTGCCACTGTGGCG
TGCGGCTCCTCCCCGCGCCGCGAGGCCGCGACCTCTGCCACGTGGACCGCGCGCGGGGCGCTCC
CTGGTGGCGATGGCGCGGCACTGGCCGAGCACTGCGGGGGCTTTCCTCCTTGTTGGTTGCTGAG
TGGGCGGCCAAGGGGAGAAAAGGAGCCGCTTCTGCCTCCCTTGCCAAAACTCCGTTTCTAATTA
AATTATTTTTAGTAGA

hide sequence

RefSeq Acc Id:

NM_001346078 ⟹ NP_001333007

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,276 - 29,573,157 (+)	NCBI
T2T-CHM13v2.0	17	30,511,145 - 30,516,033 (+)	NCBI

Sequence:

show sequence

AGGTCACACCGACAAATCTGAAGCGGGTTTGCCAGGGGAGTGTACCCGTCTCCCCAGCCTGGGC
CACCCGGTCCACAGGGATTCCATTTCCGGCCTTACACTCCGCTCCACGATCTCATCCAGGCGCT
GCAGCTGTGCAGCTGCTCTACAGACTGCAGGGACCTGCTGAGACGAATCCCCGGACGAGGAAAG
GGGCCCCCCGCCTGCCCTACTGAGCCTTGCGCGCTGACCCGGTGATGGCTGGACCGGCGGAGGA
GGCGGGAGCCCATTGTCCCGAGAGCCTGTGGCCTCTGCCTCCGCAGGTGTCACCAAGAGTGACC
TACACACGAGTGAGCCCAGGGCAGGCTGAGGATGTCACCTTCCTCTACCACCCCTGTGCCCATC
CCTGGCTGAAGCTCCAGCTTGCCCTCCTGGCCTATGCTTGTATGGCTAACCCTTCCCTCACCCC
TGACTTCAGCCTCACGCAGGATCGGCCCCTGGTGCTGACTGCATGGGGGCTGGCGCTGGAGATG
GCCTGGGTAGAGCCAGCCTGGGCTGCCCACTGGCTGATGAGGAGGCGGAGGAGGAAGCAGAGGA
AGAAGAAGGCATGGATCTACTGTGAAAGCCTTTCAGGGCCTGCTCCCTCCGAGCCAACTCCCGG
TAGAGGGAGGCTGTGCCGAAGAGGGTGTGTGCAGGCCCTGGCTCTGGCCTTTGCTCTGCGGAGC
TGGCGGCCCCCTGGCACAGAGGTGACATCTCAAGGGCCCAGGCAGCCCTCTTCTAGTGGTGCCA
AGAGGCGGAGGCTGCGGGCTGCCCTTGGTCCCCAGCCCACTCGCTCAGCCCTGAGGTTTCCCTC
TGCTTCCCCAGGGAGCTTGAAGGCCAAGCAGTCCATGGCGGGAATCCCTGGTAGGGAGAGTAAT
GCCCCATCTGTGCCCACTGTCTCCCTGCTGCCGGGGGCGCCTGGAGGCAATGCCAGCTCCAGGA
CAGAGGCTCAGGTGCCCAACGGGCAAGGCAGCCCAGGGGGCTGTGTCTGTTCAAGTCAGGCTTC
CCCGGCCCCTCGCGCAGCAGCGCCTCCACGGGCAGCCCGGGGCCCCACCCCACGCACTGAAGAG
GCCGCCTGGGCTGCCATGGCCCTGACCTTCCTGCTGGTGCTGCTCACCCTGGCCACGCTCTGCA
CACGGCTGCACAGAAACTTCCGACGCGGGGAGAGCATCTACTGGGGGCCCACAGCGGACAGCCA
GGACACAGTGGCTGCTGTGCTGAAGCGGAGGCTGCTGCAGCCCTCGCGCCGGGTCAAGCGCTCG
CGCCGGAGACCCCTCCTCCCGCCCACGCCGGACAGCGGCCCGGAAGGCGAGAGCTCGGAGTGAC
GGCCTGGGACCTGCCACTGTGGCGTGCGGCTCCTCCCCGCGCCGCGAGGCCGCGACCTCTGCCA
CGTGGACCGCGCGCGGGGCGCTCCCTGGTGGCGATGGCGCGGCACTGGCCGAGCACTGCGGGGG
CTTTCCTCCTTGTTGGTTGCTGAGTGGGCGGCCAAGGGGAGAAAAGGAGCCGCTTCTGCCTCCC
TTGCCAAAACTCCGTTTCTAATTAAATTATTTTTAGTAGA

hide sequence

RefSeq Acc Id:

NM_001346079 ⟹ NP_001333008

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,701 - 29,573,157 (+)	NCBI
T2T-CHM13v2.0	17	30,511,577 - 30,516,033 (+)	NCBI

Sequence:

show sequence

GCGCGCTCCCTCGCTGGCGGAGCGGCTGGGCGGCGGGCCGGGCCCGGGGCCGCTTGGAATGGCG
CCTCCTCCGCCTTCGCCCCAACTGCTTCTCCTGGCAGCCCTCGCGAGGCTCCTGGGTCCCAGCG
AGGTGATGGCTGGACCGGCGGAGGAGGCGGGAGCCCATTGTCCCGAGAGCCTGTGGCCTCTGCC
TCCGCAGGTGTCACCAAGAGTGACCTACACACGAGTGAGCCCAGGGCAGCCCCTGGTGCTGACT
GCATGGGGGCTGGCGCTGGAGATGGCCTGGGTAGAGCCAGCCTGGGCTGCCCACTGGCTGATGA
GGAGGCGGAGGAGGAAGCAGAGGAAGAAGAAGGCATGGATCTACTGTGAAAGCCTTTCAGGGCC
TGCTCCCTCCGAGCCAACTCCCGGTAGAGGGAGGCTGTGCCGAAGAGGGTGTGTGCAGGCCCTG
GCTCTGGCCTTTGCTCTGCGGAGCTGGCGGCCCCCTGGCACAGAGGTGACATCTCAAGGGCCCA
GGCAGCCCTCTTCTAGTGGTGCCAAGAGGCGGAGGCTGCGGGCTGCCCTTGGTCCCCAGCCCAC
TCGCTCAGCCCTGAGGTTTCCCTCTGCTTCCCCAGGGAGCTTGAAGGCCAAGCAGTCCATGGCG
GGAATCCCTGGTAGGGAGAGTAATGCCCCATCTGTGCCCACTGTCTCCCTGCTGCCGGGGGCGC
CTGGAGGCAATGCCAGCTCCAGGACAGAGGCTCAGGTGCCCAACGGGCAAGGCAGCCCAGGGGG
CTGTGTCTGTTCAAGTCAGGCTTCCCCGGCCCCTCGCGCAGCAGCGCCTCCACGGGCAGCCCGG
GGCCCCACCCCACGCACTGAAGAGGCCGCCTGGGCTGCCATGGCCCTGACCTTCCTGCTGGTGC
TGCTCACCCTGGCCACGCTCTGCACACGGCTGCACAGAAACTTCCGACGCGGGGAGAGCATCTA
CTGGGGGCCCACAGCGGACAGCCAGGACACAGTGGCTGCTGTGCTGAAGCGGAGGCTGCTGCAG
CCCTCGCGCCGGGTCAAGCGCTCGCGCCGGAGACCCCTCCTCCCGCCCACGCCGGACAGCGGCC
CGGAAGGCGAGAGCTCGGAGTGACGGCCTGGGACCTGCCACTGTGGCGTGCGGCTCCTCCCCGC
GCCGCGAGGCCGCGACCTCTGCCACGTGGACCGCGCGCGGGGCGCTCCCTGGTGGCGATGGCGC
GGCACTGGCCGAGCACTGCGGGGGCTTTCCTCCTTGTTGGTTGCTGAGTGGGCGGCCAAGGGGA
GAAAAGGAGCCGCTTCTGCCTCCCTTGCCAAAACTCCGTTTCTAATTAAATTATTTTTAGTAGA

hide sequence

RefSeq Acc Id:

NM_001346081 ⟹ NP_001333010

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,701 - 29,573,157 (+)	NCBI
T2T-CHM13v2.0	17	30,511,577 - 30,516,033 (+)	NCBI

Sequence:

show sequence

GCGCGCTCCCTCGCTGGCGGAGCGGCTGGGCGGCGGGCCGGGCCCGGGGCCGCTTGGAATGGCG
CCTCCTCCGCCTTCGCCCCAACTGCTTCTCCTGGCAGCCCTCGCGAGGCTCCTGGGTCCCAGCG
AGGTGATGGCTGGACCGGCGGAGGAGGCGGGAGCCCATTGTCCCGAGAGCCTGTGGCCTCTGCC
TCCGCAGGTGTCACCAAGAGTGACCTACACACGAGTGAGCCCAGGGCAGCTCTAACAGTTACCT
CCTCTCGTAGCCCCTGGTGCTGACTGCATGGGGGCTGGCGCTGGAGATGGCCTGGGTAGAGCCA
GCCTGGGCTGCCCACTGGCTGATGAGGAGGCGGAGGAGGAAGCAGAGGAAGAAGAAGGCATGGA
TCTACTGTGAAAGCCTTTCAGGGCCTGCTCCCTCCGAGCCAACTCCCGGTAGAGGGAGGCTGTG
CCGAAGAGGGTGTGTGCAGGCCCTGGCTCTGGCCTTTGCTCTGCGGAGCTGGCGGCCCCCTGGC
ACAGAGGTGACATCTCAAGGGCCCAGGCAGCCCTCTTCTAGTGGTGCCAAGAGGCGGAGGCTGC
GGGCTGCCCTTGGTCCCCAGCCCACTCGCTCAGCCCTGAGGTTTCCCTCTGCTTCCCCAGGGAG
CTTGAAGGCCAAGCAGTCCATGGCGGGAATCCCTGGTAGGGAGAGTAATGCCCCATCTGTGCCC
ACTGTCTCCCTGCTGCCGGGGGCGCCTGGAGGCAATGCCAGCTCCAGGACAGAGGCTCAGGTGC
CCAACGGGCAAGGCAGCCCAGGGGGCTGTGTCTGTTCAAGTCAGGCTTCCCCGGCCCCTCGCGC
AGCAGCGCCTCCACGGGCAGCCCGGGGCCCCACCCCACGCACTGAAGAGGCCGCCTGGGCTGCC
ATGGCCCTGACCTTCCTGCTGGTGCTGCTCACCCTGGCCACGCTCTGCACACGGCTGCACAGAA
ACTTCCGACGCGGGGAGAGCATCTACTGGGGGCCCACAGCGGACAGCCAGGACACAGTGGCTGC
TGTGCTGAAGCGGAGGCTGCTGCAGCCCTCGCGCCGGGTCAAGCGCTCGCGCCGGAGACCCCTC
CTCCCGCCCACGCCGGACAGCGGCCCGGAAGGCGAGAGCTCGGAGTGACGGCCTGGGACCTGCC
ACTGTGGCGTGCGGCTCCTCCCCGCGCCGCGAGGCCGCGACCTCTGCCACGTGGACCGCGCGCG
GGGCGCTCCCTGGTGGCGATGGCGCGGCACTGGCCGAGCACTGCGGGGGCTTTCCTCCTTGTTG
GTTGCTGAGTGGGCGGCCAAGGGGAGAAAAGGAGCCGCTTCTGCCTCCCTTGCCAAAACTCCGT
TTCTAATTAAATTATTTTTAGTAGA

hide sequence

RefSeq Acc Id:

NM_001346082 ⟹ NP_001333011

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,276 - 29,573,157 (+)	NCBI
T2T-CHM13v2.0	17	30,511,145 - 30,516,033 (+)	NCBI

Sequence:

show sequence

AGGTCACACCGACAAATCTGAAGCGGGTTTGCCAGGGGAGTGTACCCGTCTCCCCAGCCTGGGC
CACCCGGTCCACAGGGATTCCATTTCCGGCCTTACACTCCGCTCCACGATCTCATCCAGGCGCT
GCAGCTGTGCAGCTGCTCTACAGACTGCAGGGACCTGCTGAGACGAATCCCCGGACGAGGAAAG
GGGCCCCCCGCCTGCCCTACTGAGCCTTGCGCGCTGACCCGGTTCCTACACTTAACTTTTCCGG
CTTCGGGTTTAAGACGCGTGATGGCTGGACCGGCGGAGGAGGCGGGAGCCCATTGTCCCGAGAG
CCTGTGGCCTCTGCCTCCGCAGGTGTCACCAAGAGTGACCTACACACGAGTGAGCCCAGGGCAG
GCTGAGGATGTCACCTTCCTCTACCACCCCTGTGCCCATCCCTGGCTGAAGCTCCAGCTTGCCC
TCCTGGCCTATGCTTGTATGGCTAACCCTTCCCTCACCCCTGACTTCAGCCTCACGCAGGATCG
GCTCTAACAGTTACCTCCTCTCGTAGCCCCTGGTGCTGACTGCATGGGGGCTGGCGCTGGAGAT
GGCCTGGGTAGAGCCAGCCTGGGCTGCCCACTGGCTGATGAGGAGGCGGAGGAGGAAGCAGAGG
AAGAAGAAGGCATGGATCTACTGTGAAAGCCTTTCAGGGCCTGCTCCCTCCGAGCCAACTCCCG
GTAGAGGGAGGCTGTGCCGAAGAGGGTGTGTGCAGGCCCTGGCTCTGGCCTTTGCTCTGCGGAG
CTGGCGGCCCCCTGGCACAGAGGTGACATCTCAAGGGCCCAGGCAGCCCTCTTCTAGTGGTGCC
AAGAGGCGGAGGCTGCGGGCTGCCCTTGGTCCCCAGCCCACTCGCTCAGCCCTGAGGTTTCCCT
CTGCTTCCCCAGGGAGCTTGAAGGCCAAGCAGTCCATGGCGGGAATCCCTGGTAGGGAGAGTAA
TGCCCCATCTGTGCCCACTGTCTCCCTGCTGCCGGGGGCGCCTGGAGGCAATGCCAGCTCCAGG
ACAGAGGCTCAGGTGCCCAACGGGCAAGGCAGCCCAGGGGGCTGTGTCTGTTCAAGTCAGGCTT
CCCCGGCCCCTCGCGCAGCAGCGCCTCCACGGGCAGCCCGGGGCCCCACCCCACGCACTGAAGA
GGCCGCCTGGGCTGCCATGGCCCTGACCTTCCTGCTGGTGCTGCTCACCCTGGCCACGCTCTGC
ACACGGCTGCACAGAAACTTCCGACGCGGGGAGAGCATCTACTGGGGGCCCACAGCGGACAGCC
AGGACACAGTGGCTGCTGTGCTGAAGCGGAGGCTGCTGCAGCCCTCGCGCCGGGTCAAGCGCTC
GCGCCGGAGACCCCTCCTCCCGCCCACGCCGGACAGCGGCCCGGAAGGCGAGAGCTCGGAGTGA
CGGCCTGGGACCTGCCACTGTGGCGTGCGGCTCCTCCCCGCGCCGCGAGGCCGCGACCTCTGCC
ACGTGGACCGCGCGCGGGGCGCTCCCTGGTGGCGATGGCGCGGCACTGGCCGAGCACTGCGGGG
GCTTTCCTCCTTGTTGGTTGCTGAGTGGGCGGCCAAGGGGAGAAAAGGAGCCGCTTCTGCCTCC
CTTGCCAAAACTCCGTTTCTAATTAAATTATTTTTAGTAGA

hide sequence

RefSeq Acc Id:

NM_138349 ⟹ NP_612358

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,701 - 29,573,157 (+)	NCBI
GRCh37	17	27,894,198 - 27,900,175 (+)	NCBI
Build 36	17	24,919,865 - 24,924,301 (+)	NCBI Archive
Celera	17	24,756,546 - 24,761,040 (+)	RGD
HuRef	17	24,105,093 - 24,109,514 (+)	ENTREZGENE
CHM1_1	17	27,958,401 - 27,962,837 (+)	NCBI
T2T-CHM13v2.0	17	30,511,577 - 30,516,033 (+)	NCBI

Sequence:

show sequence

GCGCGCTCCCTCGCTGGCGGAGCGGCTGGGCGGCGGGCCGGGCCCGGGGCCGCTTGGAATGGCG
CCTCCTCCGCCTTCGCCCCAACTGCTTCTCCTGGCAGCCCTCGCGAGGCTCCTGGGTCCCAGCG
AGGTGATGGCTGGACCGGCGGAGGAGGCGGGAGCCCATTGTCCCGAGAGCCTGTGGCCTCTGCC
TCCGCAGGTGTCACCAAGAGTGACCTACACACGAGTGAGCCCAGGGCAGGCTGAGGATGTCACC
TTCCTCTACCACCCCTGTGCCCATCCCTGGCTGAAGCTCCAGCTTGCCCTCCTGGCCTATGCTT
GTATGGCTAACCCTTCCCTCACCCCTGACTTCAGCCTCACGCAGGATCGGCCCCTGGTGCTGAC
TGCATGGGGGCTGGCGCTGGAGATGGCCTGGGTAGAGCCAGCCTGGGCTGCCCACTGGCTGATG
AGGAGGCGGAGGAGGAAGCAGAGGAAGAAGAAGGCATGGATCTACTGTGAAAGCCTTTCAGGGC
CTGCTCCCTCCGAGCCAACTCCCGGTAGAGGGAGGCTGTGCCGAAGAGGGTGTGTGCAGGCCCT
GGCTCTGGCCTTTGCTCTGCGGAGCTGGCGGCCCCCTGGCACAGAGGTGACATCTCAAGGGCCC
AGGCAGCCCTCTTCTAGTGGTGCCAAGAGGCGGAGGCTGCGGGCTGCCCTTGGTCCCCAGCCCA
CTCGCTCAGCCCTGAGGTTTCCCTCTGCTTCCCCAGGGAGCTTGAAGGCCAAGCAGTCCATGGC
GGGAATCCCTGGTAGGGAGAGTAATGCCCCATCTGTGCCCACTGTCTCCCTGCTGCCGGGGGCG
CCTGGAGGCAATGCCAGCTCCAGGACAGAGGCTCAGGTGCCCAACGGGCAAGGCAGCCCAGGGG
GCTGTGTCTGTTCAAGTCAGGCTTCCCCGGCCCCTCGCGCAGCAGCGCCTCCACGGGCAGCCCG
GGGCCCCACCCCACGCACTGAAGAGGCCGCCTGGGCTGCCATGGCCCTGACCTTCCTGCTGGTG
CTGCTCACCCTGGCCACGCTCTGCACACGGCTGCACAGAAACTTCCGACGCGGGGAGAGCATCT
ACTGGGGGCCCACAGCGGACAGCCAGGACACAGTGGCTGCTGTGCTGAAGCGGAGGCTGCTGCA
GCCCTCGCGCCGGGTCAAGCGCTCGCGCCGGAGACCCCTCCTCCCGCCCACGCCGGACAGCGGC
CCGGAAGGCGAGAGCTCGGAGTGACGGCCTGGGACCTGCCACTGTGGCGTGCGGCTCCTCCCCG
CGCCGCGAGGCCGCGACCTCTGCCACGTGGACCGCGCGCGGGGCGCTCCCTGGTGGCGATGGCG
CGGCACTGGCCGAGCACTGCGGGGGCTTTCCTCCTTGTTGGTTGCTGAGTGGGCGGCCAAGGGG
AGAAAAGGAGCCGCTTCTGCCTCCCTTGCCAAAACTCCGTTTCTAATTAAATTATTTTTAGTAG
A

hide sequence

RefSeq Acc Id:

XM_047436999 ⟹ XP_047292955

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,701 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437000 ⟹ XP_047292956

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,567,173 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437001 ⟹ XP_047292957

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,567,418 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437002 ⟹ XP_047292958

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,567,969 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437003 ⟹ XP_047292959

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,566,300 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437004 ⟹ XP_047292960

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,276 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437005 ⟹ XP_047292961

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,047 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437006 ⟹ XP_047292962

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,701 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437007 ⟹ XP_047292963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,569,048 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_047437008 ⟹ XP_047292964

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,571,627 - 29,582,340 (+)	NCBI

RefSeq Acc Id:

XM_054317686 ⟹ XP_054173661

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,511,577 - 30,525,212 (+)	NCBI

RefSeq Acc Id:

XM_054317687 ⟹ XP_054173662

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,511,145 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317688 ⟹ XP_054173663

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,510,000 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317689 ⟹ XP_054173664

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,510,287 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317690 ⟹ XP_054173665

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,510,838 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317691 ⟹ XP_054173666

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,511,145 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317692 ⟹ XP_054173667

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,510,944 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317693 ⟹ XP_054173668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,511,577 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317694 ⟹ XP_054173669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,511,924 - 30,524,622 (+)	NCBI

RefSeq Acc Id:

XM_054317695 ⟹ XP_054173670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	30,514,503 - 30,524,622 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001333006	(Get FASTA)	NCBI Sequence Viewer
	NP_001333007	(Get FASTA)	NCBI Sequence Viewer
	NP_001333008	(Get FASTA)	NCBI Sequence Viewer
	NP_001333010	(Get FASTA)	NCBI Sequence Viewer
	NP_001333011	(Get FASTA)	NCBI Sequence Viewer
	NP_612358	(Get FASTA)	NCBI Sequence Viewer
	XP_047292955	(Get FASTA)	NCBI Sequence Viewer
	XP_047292956	(Get FASTA)	NCBI Sequence Viewer
	XP_047292957	(Get FASTA)	NCBI Sequence Viewer
	XP_047292958	(Get FASTA)	NCBI Sequence Viewer
	XP_047292959	(Get FASTA)	NCBI Sequence Viewer
	XP_047292960	(Get FASTA)	NCBI Sequence Viewer
	XP_047292961	(Get FASTA)	NCBI Sequence Viewer
	XP_047292962	(Get FASTA)	NCBI Sequence Viewer
	XP_047292963	(Get FASTA)	NCBI Sequence Viewer
	XP_047292964	(Get FASTA)	NCBI Sequence Viewer
	XP_054173661	(Get FASTA)	NCBI Sequence Viewer
	XP_054173662	(Get FASTA)	NCBI Sequence Viewer
	XP_054173663	(Get FASTA)	NCBI Sequence Viewer
	XP_054173664	(Get FASTA)	NCBI Sequence Viewer
	XP_054173665	(Get FASTA)	NCBI Sequence Viewer
	XP_054173666	(Get FASTA)	NCBI Sequence Viewer
	XP_054173667	(Get FASTA)	NCBI Sequence Viewer
	XP_054173668	(Get FASTA)	NCBI Sequence Viewer
	XP_054173669	(Get FASTA)	NCBI Sequence Viewer
	XP_054173670	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH01593	(Get FASTA)	NCBI Sequence Viewer
	BAC11555	(Get FASTA)	NCBI Sequence Viewer
	BAD08203	(Get FASTA)	NCBI Sequence Viewer
	BAD08208	(Get FASTA)	NCBI Sequence Viewer
	CAB70727	(Get FASTA)	NCBI Sequence Viewer
	CAI72061	(Get FASTA)	NCBI Sequence Viewer
	EAW51192	(Get FASTA)	NCBI Sequence Viewer
	EAW51193	(Get FASTA)	NCBI Sequence Viewer
	EAW51194	(Get FASTA)	NCBI Sequence Viewer
	EAW51195	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000301057
	ENSP00000301057.7
	ENSP00000368095.2
	ENSP00000462026.1
	ENSP00000462693.2
	ENSP00000465112.1
	ENSP00000465824.1
	ENSP00000466027.1
	ENSP00000468265.1
GenBank Protein	Q8NBR0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_612358 ⟸ NM_138349
- Peptide Label:	isoform a precursor
- UniProtKB:	Q7L5U3 (UniProtKB/Swiss-Prot), Q8NBR0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAPPPPSPQLLLLAALARLLGPSEVMAGPAEEAGAHCPESLWPLPPQVSPRVTYTRVSPGQAED VTFLYHPCAHPWLKLQLALLAYACMANPSLTPDFSLTQDRPLVLTAWGLALEMAWVEPAWAAHW LMRRRRRKQRKKKAWIYCESLSGPAPSEPTPGRGRLCRRGCVQALALAFALRSWRPPGTEVTSQ GPRQPSSSGAKRRRLRAALGPQPTRSALRFPSASPGSLKAKQSMAGIPGRESNAPSVPTVSLLP GAPGGNASSRTEAQVPNGQGSPGGCVCSSQASPAPRAAAPPRAARGPTPRTEEAAWAAMALTFL LVLLTLATLCTRLHRNFRRGESIYWGPTADSQDTVAAVLKRRLLQPSRRVKRSRRRPLLPPTPD SGPEGESSE hide sequence

RefSeq Acc Id:

NP_001333011 ⟸ NM_001346082

- Peptide Label:

isoform d

- Sequence:

show sequence

MAWVEPAWAAHWLMRRRRRKQRKKKAWIYCESLSGPAPSEPTPGRGRLCRRGCVQALALAFALR
SWRPPGTEVTSQGPRQPSSSGAKRRRLRAALGPQPTRSALRFPSASPGSLKAKQSMAGIPGRES
NAPSVPTVSLLPGAPGGNASSRTEAQVPNGQGSPGGCVCSSQASPAPRAAAPPRAARGPTPRTE
EAAWAAMALTFLLVLLTLATLCTRLHRNFRRGESIYWGPTADSQDTVAAVLKRRLLQPSRRVKR
SRRRPLLPPTPDSGPEGESSE

hide sequence

RefSeq Acc Id:

NP_001333006 ⟸ NM_001346077

- Peptide Label:

isoform b

- Sequence:

show sequence

MAGPAEEAGAHCPESLWPLPPQVSPRVTYTRVSPGQAEDVTFLYHPCAHPWLKLQLALLAYACM
ANPSLTPDFSLTQDRPLVLTAWGLALEMAWVEPAWAAHWLMRRRRRKQRKKKAWIYCESLSGPA
PSEPTPGRGRLCRRGCVQALALAFALRSWRPPGTEVTSQGPRQPSSSGAKRRRLRAALGPQPTR
SALRFPSASPGSLKAKQSMAGIPGRESNAPSVPTVSLLPGAPGGNASSRTEAQVPNGQGSPGGC
VCSSQASPAPRAAAPPRAARGPTPRTEEAAWAAMALTFLLVLLTLATLCTRLHRNFRRGESIYW
GPTADSQDTVAAVLKRRLLQPSRRVKRSRRRPLLPPTPDSGPEGESSE

hide sequence

RefSeq Acc Id:

NP_001333007 ⟸ NM_001346078

- Peptide Label:

isoform b

- Sequence:

show sequence

MAGPAEEAGAHCPESLWPLPPQVSPRVTYTRVSPGQAEDVTFLYHPCAHPWLKLQLALLAYACM
ANPSLTPDFSLTQDRPLVLTAWGLALEMAWVEPAWAAHWLMRRRRRKQRKKKAWIYCESLSGPA
PSEPTPGRGRLCRRGCVQALALAFALRSWRPPGTEVTSQGPRQPSSSGAKRRRLRAALGPQPTR
SALRFPSASPGSLKAKQSMAGIPGRESNAPSVPTVSLLPGAPGGNASSRTEAQVPNGQGSPGGC
VCSSQASPAPRAAAPPRAARGPTPRTEEAAWAAMALTFLLVLLTLATLCTRLHRNFRRGESIYW
GPTADSQDTVAAVLKRRLLQPSRRVKRSRRRPLLPPTPDSGPEGESSE

hide sequence

RefSeq Acc Id:

NP_001333010 ⟸ NM_001346081

- Peptide Label:

isoform d

- Sequence:

show sequence

MAWVEPAWAAHWLMRRRRRKQRKKKAWIYCESLSGPAPSEPTPGRGRLCRRGCVQALALAFALR
SWRPPGTEVTSQGPRQPSSSGAKRRRLRAALGPQPTRSALRFPSASPGSLKAKQSMAGIPGRES
NAPSVPTVSLLPGAPGGNASSRTEAQVPNGQGSPGGCVCSSQASPAPRAAAPPRAARGPTPRTE
EAAWAAMALTFLLVLLTLATLCTRLHRNFRRGESIYWGPTADSQDTVAAVLKRRLLQPSRRVKR
SRRRPLLPPTPDSGPEGESSE

hide sequence

RefSeq Acc Id:

NP_001333008 ⟸ NM_001346079

- Peptide Label:

isoform c precursor

- Sequence:

show sequence

MAPPPPSPQLLLLAALARLLGPSEVMAGPAEEAGAHCPESLWPLPPQVSPRVTYTRVSPGQPLV
LTAWGLALEMAWVEPAWAAHWLMRRRRRKQRKKKAWIYCESLSGPAPSEPTPGRGRLCRRGCVQ
ALALAFALRSWRPPGTEVTSQGPRQPSSSGAKRRRLRAALGPQPTRSALRFPSASPGSLKAKQS
MAGIPGRESNAPSVPTVSLLPGAPGGNASSRTEAQVPNGQGSPGGCVCSSQASPAPRAAAPPRA
ARGPTPRTEEAAWAAMALTFLLVLLTLATLCTRLHRNFRRGESIYWGPTADSQDTVAAVLKRRL
LQPSRRVKRSRRRPLLPPTPDSGPEGESSE

hide sequence

RefSeq Acc Id:

ENSP00000466027 ⟸ ENST00000580183

RefSeq Acc Id:

ENSP00000462693 ⟸ ENST00000581411

RefSeq Acc Id:

ENSP00000465112 ⟸ ENST00000582829

RefSeq Acc Id:

ENSP00000465824 ⟸ ENST00000583940

RefSeq Acc Id:

ENSP00000368095 ⟸ ENST00000378818

RefSeq Acc Id:

ENSP00000462026 ⟸ ENST00000577934

RefSeq Acc Id:

ENSP00000468265 ⟸ ENST00000578749

RefSeq Acc Id:

ENSP00000301057 ⟸ ENST00000301057

RefSeq Acc Id:	XP_047292959 ⟸ XM_047437003
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047292956 ⟸ XM_047437000
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047292957 ⟸ XM_047437001
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047292958 ⟸ XM_047437002
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047292961 ⟸ XM_047437005
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047292960 ⟸ XM_047437004
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047292955 ⟸ XM_047436999
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047292962 ⟸ XM_047437006
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_047292963 ⟸ XM_047437007
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_047292964 ⟸ XM_047437008
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054173663 ⟸ XM_054317688
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173664 ⟸ XM_054317689
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173665 ⟸ XM_054317690
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173667 ⟸ XM_054317692
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173662 ⟸ XM_054317687
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173666 ⟸ XM_054317691
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173661 ⟸ XM_054317686
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054173668 ⟸ XM_054317693
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054173669 ⟸ XM_054317694
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054173670 ⟸ XM_054317695
- Peptide Label:	isoform X5

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NBR0-F1-model_v2	AlphaFold	Q8NBR0	1-393	view protein structure

Promoters

RGD ID:

7234483

Promoter ID:

EPDNEW_H22988

Type:

initiation region

Name:

TP53I13_1

Description:

tumor protein p53 inducible protein 13

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	29,568,713 - 29,568,773	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25102	AgrOrtholog
COSMIC	TP53I13	COSMIC
Ensembl Genes	ENSG00000167543	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000301057	ENTREZGENE
	ENST00000301057.8	UniProtKB/Swiss-Prot
	ENST00000378818.2	UniProtKB/TrEMBL
	ENST00000577934.5	UniProtKB/TrEMBL
	ENST00000578749.5	UniProtKB/TrEMBL
	ENST00000580183.6	UniProtKB/TrEMBL
	ENST00000581411.6	UniProtKB/TrEMBL
	ENST00000582829.6	UniProtKB/TrEMBL
	ENST00000583940.5	UniProtKB/TrEMBL
GTEx	ENSG00000167543	GTEx
HGNC ID	HGNC:25102	ENTREZGENE
Human Proteome Map	TP53I13	Human Proteome Map
KEGG Report	hsa:90313	UniProtKB/Swiss-Prot
NCBI Gene	90313	ENTREZGENE
PANTHER	TUMOR PROTEIN P53-INDUCIBLE PROTEIN 13	UniProtKB/Swiss-Prot
	TUMOR PROTEIN P53-INDUCIBLE PROTEIN 13	UniProtKB/Swiss-Prot
	TUMOR PROTEIN P53-INDUCIBLE PROTEIN 13	UniProtKB/TrEMBL
	TUMOR PROTEIN P53-INDUCIBLE PROTEIN 13	UniProtKB/TrEMBL
PharmGKB	PA143485659	PharmGKB
UniProt	H0Y3E9_HUMAN	UniProtKB/TrEMBL
	J3KRJ1_HUMAN	UniProtKB/TrEMBL
	J3KSX2_HUMAN	UniProtKB/TrEMBL
	K7EJC6_HUMAN	UniProtKB/TrEMBL
	K7EKX3_HUMAN	UniProtKB/TrEMBL
	K7ELD4_HUMAN	UniProtKB/TrEMBL
	K7ERH9_HUMAN	UniProtKB/TrEMBL
	P5I13_HUMAN	UniProtKB/Swiss-Prot
	Q7L5U3	ENTREZGENE
	Q8NBR0	ENTREZGENE
UniProt Secondary	Q7L5U3	UniProtKB/Swiss-Prot

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

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

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

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

Send us a Message

Imported Disease Annotations - ClinVar