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Gene: THAP5 (THAP domain containing 5) Homo sapiens

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Symbol:

THAP5

Name:

THAP domain containing 5

RGD ID:

1353274

HGNC Page

HGNC:23188

Description:

Enables protease binding activity. Involved in negative regulation of cell cycle and negative regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp313O1132; THAP domain-containing protein 5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

THAP5P1 THAP5P2

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	7	108,541,759 - 108,569,768 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	108,554,543 - 108,569,750 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	108,202,576 - 108,210,212 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	107,991,766 - 107,997,133 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	107,798,482 - 107,803,848	NCBI
Celera	7	103,016,042 - 103,023,538 (-)	NCBI		Celera
Cytogenetic Map	7	q31.1	NCBI
HuRef	7	102,570,894 - 102,578,384 (-)	NCBI		HuRef
CHM1_1	7	108,135,971 - 108,143,453 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	109,865,676 - 109,894,376 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	107,569,889 - 107,577,381 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
THAP5	Human	pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
THAP5	Human	(-)-epigallocatechin 3-gallate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of THAP5 mRNA	CTD	PMID:22079256
THAP5	Human	aflatoxin B1	decreases expression	EXP		6480464	Aflatoxin B1 results in decreased expression of THAP5 mRNA	CTD	PMID:27153756
THAP5	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of THAP5 gene	CTD	PMID:27153756
THAP5	Human	aflatoxin M1	decreases expression	EXP		6480464	Aflatoxin M1 results in decreased expression of THAP5 mRNA	CTD	PMID:30928695
THAP5	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of THAP5 mRNA	CTD	PMID:24449571
THAP5	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of THAP5 mRNA	CTD	PMID:33212167
THAP5	Human	arsenite(3-)	decreases methylation	EXP		6480464	arsenite results in decreased methylation of THAP5 promoter	CTD	PMID:23974009
THAP5	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of THAP5 mRNA	CTD	PMID:35301059
THAP5	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of THAP5 mRNA	CTD	PMID:35301059
THAP5	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of THAP5 protein	CTD	PMID:21110952
THAP5	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of THAP5 mRNA	CTD	PMID:27989131
THAP5	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of THAP5 mRNA	CTD	PMID:37042841
THAP5	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of THAP5 mRNA	CTD	PMID:29803840
THAP5	Human	folic acid	decreases expression	EXP		6480464	Folic Acid results in decreased expression of THAP5 mRNA	CTD	PMID:21867686
THAP5	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of THAP5 mRNA	CTD	PMID:23649840
THAP5	Human	potassium chromate	increases expression	EXP		6480464	potassium chromate(VI) results in increased expression of THAP5 mRNA	CTD	PMID:22079256
THAP5	Human	potassium chromate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of THAP5 mRNA	CTD	PMID:22079256
THAP5	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of THAP5 gene	CTD	PMID:29154799
THAP5	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of THAP5 mRNA	CTD	PMID:29154799

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
THAP5	Human	negative regulation of cell cycle	involved_in	IMP		150520179	PMID:19502560	UniProt	PMID:19502560
THAP5	Human	negative regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:21110952	ARUK-UCL	PMID:21110952

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
THAP5	Human	chromatin	located_in	IDA		150520179	PMID:21110952	ARUK-UCL	PMID:21110952
THAP5	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
THAP5	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
THAP5	Human	nucleus	located_in	IDA		150520179	PMID:19502560	UniProt	PMID:19502560
THAP5	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
THAP5	Human	nucleus	is_active_in	IBA	PANTHER:PTN002930720 and UniProtKB:Q7Z6K1	150520179		GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
THAP5	Human	DNA binding	enables	IEA	UniRule:UR000415608	150520179		UniProt	GO_REF:0000104
THAP5	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
THAP5	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
THAP5	Human	protease binding	enables	IPI	UniProtKB:O43464	150520179	PMID:19502560	UniProt	PMID:19502560
THAP5	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
THAP5	Human	Pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:12575992	PMID:12690205	PMID:15231748	PMID:17207965	PMID:19274049	PMID:19502560	PMID:20602751	PMID:21110952	PMID:21195082	PMID:21873635	PMID:22006218
PMID:31586073	PMID:32393512	PMID:33961781	PMID:34099652	PMID:36724073

THAP5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	108,541,759 - 108,569,768 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	108,554,543 - 108,569,750 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	108,202,576 - 108,210,212 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	107,991,766 - 107,997,133 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	107,798,482 - 107,803,848	NCBI
Celera	7	103,016,042 - 103,023,538 (-)	NCBI		Celera
Cytogenetic Map	7	q31.1	NCBI
HuRef	7	102,570,894 - 102,578,384 (-)	NCBI		HuRef
CHM1_1	7	108,135,971 - 108,143,453 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	109,865,676 - 109,894,376 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	107,569,889 - 107,577,381 (-)	NCBI

Thap5
(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_004955410	12,808,700 - 12,815,193 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955410	12,808,700 - 12,814,915 (-)	NCBI	ChiLan1.0	ChiLan1.0

THAP5
(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	6	145,412,123 - 145,419,606 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	193,682,093 - 193,689,576 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	100,547,874 - 100,555,416 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	113,266,499 - 113,274,038 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	113,266,499 - 113,274,033 (-)	Ensembl	panpan1.1		panPan2

THAP5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	14	48,738,882 - 48,880,295 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	14	48,873,990 - 48,880,266 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	14	48,183,037 - 48,324,132 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	14	48,681,884 - 48,829,752 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	14	48,822,741 - 48,829,735 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	14	48,786,690 - 48,926,847 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	14	48,466,945 - 48,610,709 (-)	NCBI		UNSW_CanFamBas_1.0

Thap5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	68,395,316 - 68,402,923 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936653	1,544,613 - 1,554,216 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936653	1,546,682 - 1,554,347 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

THAP5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	18	36,584,373 - 36,592,252 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	36,584,359 - 36,592,255 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	40,224,757 - 40,232,666 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

THAP5
(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	21	77,469,566 - 77,477,190 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	77,471,631 - 77,477,733 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	26,386,093 - 26,393,350 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Thap5
(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_004624739	21,193,484 - 21,199,103 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624739	21,193,399 - 21,220,936 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in THAP5
29 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	copy number loss	See cases [RCV000050924]	Chr7:101807149..112414850 [GRCh38] Chr7:101450429..112054905 [GRCh37] Chr7:101237149..111842141 [NCBI36] Chr7:7q22.1-31.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	copy number loss	See cases [RCV000054158]	Chr7:106261939..111228036 [GRCh38] Chr7:105902385..110868092 [GRCh37] Chr7:105689621..110655328 [NCBI36] Chr7:7q22.3-31.1	pathogenic
NM_012328.2(DNAJB9):c.479C>T (p.Ser160Phe)	single nucleotide variant	Malignant melanoma [RCV000067580]	Chr7:108573160 [GRCh38] Chr7:108213604 [GRCh37] Chr7:108000840 [NCBI36] Chr7:7q31.1	not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	copy number loss	See cases [RCV000137522]	Chr7:102196924..121278641 [GRCh38] Chr7:101912320..120918695 [GRCh37] Chr7:101626924..120705931 [NCBI36] Chr7:7q22.1-31.31	pathogenic
GRCh38/hg38 7q31.1(chr7:108559438-109009742)x1	copy number loss	See cases [RCV000137439]	Chr7:108559438..109009742 [GRCh38] Chr7:108199882..108649799 [GRCh37] Chr7:107987118..108437035 [NCBI36] Chr7:7q31.1	likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3	copy number gain	See cases [RCV000447709]	Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	copy number gain	not provided [RCV000682911]	Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	copy number loss	not provided [RCV000847183]	Chr7:107786826..112356275 [GRCh37] Chr7:7q31.1	uncertain significance
GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	copy number loss	not provided [RCV000846765]	Chr7:107410314..117825549 [GRCh37] Chr7:7q31.1-31.31	pathogenic
GRCh37/hg19 7q31.1(chr7:108094786-108494963)x3	copy number gain	not provided [RCV001005993]	Chr7:108094786..108494963 [GRCh37] Chr7:7q31.1	likely benign
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	copy number loss	not provided [RCV001005991]	Chr7:106617406..123217914 [GRCh37] Chr7:7q22.3-31.32	pathogenic
GRCh37/hg19 7q31.1(chr7:107441501-108433812)x1	copy number loss	not provided [RCV001005992]	Chr7:107441501..108433812 [GRCh37] Chr7:7q31.1	uncertain significance
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	copy number loss	not specified [RCV002053712]	Chr7:100676872..119156160 [GRCh37] Chr7:7q22.1-31.31	pathogenic
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	copy number gain	not specified [RCV002053715]	Chr7:106984287..128949489 [GRCh37] Chr7:7q22.3-32.1	pathogenic
GRCh37/hg19 7q31.1(chr7:108099153-108503957)	copy number gain	not specified [RCV002053716]	Chr7:108099153..108503957 [GRCh37] Chr7:7q31.1	uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	copy number loss	not specified [RCV002053711]	Chr7:99417471..111586308 [GRCh37] Chr7:7q22.1-31.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
NM_001130475.3(THAP5):c.869C>T (p.Ser290Phe)	single nucleotide variant	not specified [RCV004216492]	Chr7:108564510 [GRCh38] Chr7:108204954 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.40C>G (p.Arg14Gly)	single nucleotide variant	not specified [RCV004184880]	Chr7:108569530 [GRCh38] Chr7:108209974 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.957A>T (p.Gln319His)	single nucleotide variant	not specified [RCV004121337]	Chr7:108564422 [GRCh38] Chr7:108204866 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.752C>T (p.Pro251Leu)	single nucleotide variant	not specified [RCV004141820]	Chr7:108564627 [GRCh38] Chr7:108205071 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.716G>C (p.Ser239Thr)	single nucleotide variant	not specified [RCV004218992]	Chr7:108564663 [GRCh38] Chr7:108205107 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.716G>A (p.Ser239Asn)	single nucleotide variant	not specified [RCV004231579]	Chr7:108564663 [GRCh38] Chr7:108205107 [GRCh37] Chr7:7q31.1	likely benign
NM_001130475.3(THAP5):c.698C>T (p.Ala233Val)	single nucleotide variant	not specified [RCV004182118]	Chr7:108564681 [GRCh38] Chr7:108205125 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.392T>A (p.Val131Asp)	single nucleotide variant	not specified [RCV004223466]	Chr7:108564987 [GRCh38] Chr7:108205431 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.961G>C (p.Glu321Gln)	single nucleotide variant	not specified [RCV004152500]	Chr7:108564418 [GRCh38] Chr7:108204862 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.364G>A (p.Val122Ile)	single nucleotide variant	not specified [RCV004133683]	Chr7:108565015 [GRCh38] Chr7:108205459 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.257T>G (p.Leu86Trp)	single nucleotide variant	not specified [RCV004268111]	Chr7:108565846 [GRCh38] Chr7:108206290 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.391G>A (p.Val131Ile)	single nucleotide variant	not specified [RCV004327161]	Chr7:108564988 [GRCh38] Chr7:108205432 [GRCh37] Chr7:7q31.1	uncertain significance
GRCh37/hg19 7q31.1(chr7:107981349-110641907)x3	copy number gain	not provided [RCV003484699]	Chr7:107981349..110641907 [GRCh37] Chr7:7q31.1	uncertain significance
GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	copy number loss	not provided [RCV003482977]	Chr7:104536649..109624996 [GRCh37] Chr7:7q22.3-31.1	pathogenic
NM_001130475.3(THAP5):c.26G>A (p.Cys9Tyr)	single nucleotide variant	not specified [RCV004474765]	Chr7:108569544 [GRCh38] Chr7:108209988 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.709T>C (p.Phe237Leu)	single nucleotide variant	not specified [RCV004474767]	Chr7:108564670 [GRCh38] Chr7:108205114 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.47G>A (p.Arg16Gln)	single nucleotide variant	not specified [RCV004474766]	Chr7:108569523 [GRCh38] Chr7:108209967 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.799A>C (p.Asn267His)	single nucleotide variant	not specified [RCV004474768]	Chr7:108564580 [GRCh38] Chr7:108205024 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.91C>A (p.His31Asn)	single nucleotide variant	not specified [RCV004474769]	Chr7:108566012 [GRCh38] Chr7:108206456 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.685A>G (p.Thr229Ala)	single nucleotide variant	not specified [RCV004668497]	Chr7:108564694 [GRCh38] Chr7:108205138 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.709T>G (p.Phe237Val)	single nucleotide variant	not specified [RCV004668500]	Chr7:108564670 [GRCh38] Chr7:108205114 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.400G>C (p.Asp134His)	single nucleotide variant	not specified [RCV004668498]	Chr7:108564979 [GRCh38] Chr7:108205423 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.155A>T (p.Lys52Ile)	single nucleotide variant	not specified [RCV004668499]	Chr7:108565948 [GRCh38] Chr7:108206392 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.214A>T (p.Ile72Phe)	single nucleotide variant	not specified [RCV004668501]	Chr7:108565889 [GRCh38] Chr7:108206333 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.287C>A (p.Ser96Tyr)	single nucleotide variant	not specified [RCV004867163]	Chr7:108565092 [GRCh38] Chr7:108205536 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.1156C>T (p.His386Tyr)	single nucleotide variant	not specified [RCV004867164]	Chr7:108564223 [GRCh38] Chr7:108204667 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.842C>G (p.Ser281Cys)	single nucleotide variant	not specified [RCV004867165]	Chr7:108564537 [GRCh38] Chr7:108204981 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.737C>T (p.Ser246Leu)	single nucleotide variant	not specified [RCV004867166]	Chr7:108564642 [GRCh38] Chr7:108205086 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.202A>G (p.Ile68Val)	single nucleotide variant	not specified [RCV004867167]	Chr7:108565901 [GRCh38] Chr7:108206345 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.773A>G (p.Asn258Ser)	single nucleotide variant	not specified [RCV004867168]	Chr7:108564606 [GRCh38] Chr7:108205050 [GRCh37] Chr7:7q31.1	uncertain significance
NM_001130475.3(THAP5):c.610A>G (p.Thr204Ala)	single nucleotide variant	not specified [RCV004275045]	Chr7:108564769 [GRCh38] Chr7:108205213 [GRCh37] Chr7:7q31.1	uncertain significance
GRCh37/hg19 7q31.1(chr7:108154329-108464788)x3	copy number gain	not provided [RCV000746963]	Chr7:108154329..108464788 [GRCh37] Chr7:7q31.1	benign

Predicted Target Of

	Summary Value
Count of predictions:	1309
Count of miRNA genes:	681
Interacting mature miRNAs:	776
Transcripts:	ENST00000313516, ENST00000412935, ENST00000415914, ENST00000438865, ENST00000446771, ENST00000468884, ENST00000484452, ENST00000493722
Prediction methods:	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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597469497	GWAS1565571_H	Myopia QTL GWAS1565571 (human)		6e-11	Myopia		7	108553990	108553991	Human

SHGC-36567

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	108,202,976 - 108,203,050	UniSTS	GRCh37
GRCh37	7	158,413,314 - 158,413,388	UniSTS	GRCh37
Build 36	7	107,990,212 - 107,990,286	RGD	NCBI36
Celera	7	103,016,347 - 103,016,421	RGD
Celera	7	152,845,918 - 152,845,992	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
HuRef	7	102,571,199 - 102,571,273	UniSTS
HuRef	7	152,152,537 - 152,152,611	UniSTS
CRA_TCAGchr7v2	7	157,617,972 - 157,618,046	UniSTS
CRA_TCAGchr7v2	7	107,570,194 - 107,570,268	UniSTS

G36369

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	108,207,065 - 108,207,202	UniSTS	GRCh37
Build 36	7	107,994,301 - 107,994,438	RGD	NCBI36
Celera	7	103,020,436 - 103,020,573	RGD
Cytogenetic Map	7	q31.1	UniSTS
HuRef	7	102,575,282 - 102,575,419	UniSTS
CRA_TCAGchr7v2	7	107,574,279 - 107,574,416	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001130475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001287598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001287599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001287601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_182529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007059987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487538	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW407519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF244164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI830307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU567660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000313516 ⟹ ENSP00000322440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,564,086 - 108,569,453 (-)	Ensembl

Ensembl Acc Id:

ENST00000412935

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,564,993 - 108,569,669 (-)	Ensembl

Ensembl Acc Id:

ENST00000415914 ⟹ ENSP00000400500

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,562,132 - 108,569,706 (-)	Ensembl

Ensembl Acc Id:

ENST00000438865 ⟹ ENSP00000415841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,564,570 - 108,569,750 (-)	Ensembl

Ensembl Acc Id:

ENST00000446771

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,564,993 - 108,569,256 (-)	Ensembl

Ensembl Acc Id:

ENST00000468884

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,554,543 - 108,569,597 (-)	Ensembl

Ensembl Acc Id:

ENST00000484452

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,565,171 - 108,569,688 (-)	Ensembl

Ensembl Acc Id:

ENST00000493722

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	108,564,382 - 108,569,645 (-)	Ensembl

RefSeq Acc Id:

NM_001130475 ⟹ NP_001123947

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,562,132 - 108,569,706 (-)	NCBI
GRCh37	7	108,202,671 - 108,210,189 (-)	NCBI
Celera	7	103,016,042 - 103,023,538 (-)	RGD
HuRef	7	102,570,811 - 102,578,429 (-)	NCBI
CHM1_1	7	108,135,888 - 108,143,498 (-)	NCBI
T2T-CHM13v2.0	7	109,886,738 - 109,894,314 (-)	NCBI
CRA_TCAGchr7v2	7	107,569,889 - 107,577,381 (-)	ENTREZGENE

Sequence:

show sequence

AGACGAGGCGGCTTTCCCGGCAGAATGCTAGCGCAGGCGCAGGGGCTCGAGAGGCCTGGACCTGTGGCGCATCCTCAGTGAGGAGGGCCGCCCTGCATCCGTCGCCGGCCCCGGTCTCCAGGGGCCTC
ACCCGAGTCATGCCCCGCTATTGCGCAGCGATTTGTTGTAAGAACCGCCGGGGACGAAACAATAAAGACCGGAAGCTGAGTTTTTATCCATTTCCTCTACATGACAAAGAAAGACTGGAAAAGTGGTT
AAAGAATATGAAGCGAGATTCATGGGTTCCCAGTAAATACCAGTTTCTATGTAGTGACCATTTTACTCCTGACTCTCTTGACATCAGATGGGGTATTCGATATTTAAAACAAACTGCAGTTCCAACAA
TATTTTCTTTGCCTGAAGACAATCAGGGAAAAGACCCTTCTAAAAAAAAATCCCAGAAGAAAAACTTGGAAGATGAGAAAGAAGTATGCCCAAAAGCCAAGTCAGAAGAATCATTTGTATTAAATGAG
ACAAAGAAAAATATAGTTAACACAGATGTGCCCCATCAACATCCAGAATTACTTCATTCATCTTCCTTGGTAAAGCCACCAGCTCCCAAAACAGGAAGTATACAAAATAACATGTTAACTCTTAATCT
AGTTAAACAACATACTGGGAAACCAGAATCTACCTTGGAAACATCAGTTAACCAAGATACAGGTAGAGGTGGTTTTCACACATGTTTTGAGAATCTAAATTCTACAACTATTACTTTGACAACTTCAA
ATTCAGAAAGTATTCATCAATCTTTGGAAACTCAAGAAGTTCTTGAAGTAACTACCAGTCATCTTGCTAATCCAAACTTTACAAGTAATTCCATGGAAATAAAGTCAGCACAGGAAAATCCATTCTTA
TTCAGCACAATTAATCAAACAGTTGAAGAATTAAACACAAATAAAGAATCTGTTATTGCCATTTTTGTACCTGCTGAAAATTCTAAACCCTCAGTTAATTCTTTTATATCTGCACAAAAAGAAACCAC
GGAAATGGAAGACACAGACATTGAAGACTCCTTGTATAAGGATGTAGACTATGGGACAGAAGTTTTACAAATCGAACATTCTTACTGCAGACAAGATATAAATAAGGAACATCTTTGGCAGAAAGTCT
CTAAGCTACATTCAAAGATAACTCTTCTAGAGTTAAAAGAGCAACAAACTCTAGGTAGATTGAAGTCTTTGGAAGCTCTTATAAGGCAGCTAAAGCAGGAAAACTGGCTATCTGAAGAAAACGTCAAG
ATTATAGAAAACCATTTTACAACATATGAAGTCACTATGATATAGAATAACTAGGTTTTAAAACTATGGCTGTTAAATAAGCTTTTTCCAGCCAAACCAAACTACATGTAAAGTGAACTGTTTCCTGT
ATAAAGTTCTCATCTTAATGAACCTATGAGAGTGTTGTAAAGTTATGAACTGTATCCTATTCTTGTAATACTTATTTAAGAAAAACCAGAGAGTTGGGCTGGAGAGAAAAGCAGTTTTATTACTTGAT
AATTTTCCAAATTAAAATTTAGCACATAGAAGGATTCAGTTATAACATGAGAAAACAAAGAAGTGTTCAAAGAGCACAGACTAGAAGTCAGGTTCAGGAATCAGTCCTGGTTCTACCACTGGCATATG
ACTTGGGCAAGTTACTTATGATTGTGCCTCAGTCCCTAATTTGTAAAATAAGCACTTACTGGATTTGTAATTGGTTATTTATAGTCCCTTCCCTTTTTATTAAGATAATTCTATTAGAACACATTTTC
TGTAAGATAATATATACGTAATACTAGAAGTTGGCTAGAATTTGATGATATTAACCATGTATTATTTTCAGTATTTATTGAATTCTGTGGTCTTTGACCTTTTGGCTATAGTTACATATTACAGTTAT
ATTATCTGTAATAGAAAGGAAGATAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCAGCCTCTGC
CTCCCGGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTATAGGCACACACCACCACATCCAGCTTATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTGGCCGGGCTGG
CCTCGAACTCCTGACCCCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGATAGAACTTTTATAATTTTATTCCAGTTGAACTAAACTAAG
GAACCACCCATTAGCCCAGTTCTTAGGAGAGGTACTTCAAACTTGAAAGAATATGTATTTCGGTAACTTATATGTGGCTAACCATCAAATACATAGTCATCTAAGCTAAACTTTCTGTATTTATACAG
TTAAACTTATAAACCAAAAATTTTAATGAGGTTAATTTTAAATATATTTTAGAAATTACAGTTTGTATCTGTTTCTTAGTAGGTGTGGCCTTTAAAATATGTGCTTATTCATTGTTAAATTCCAGAAT
AATAGAGTAATACTTAATACTGTACATTCCCACTTACGTATATTTTATTAAAATTTATAAGCAAGAAATTATACATAAGTGGTCATGATCTTAGGGAGACAAAGAATTTCTCTTAGAAAAGAGAAGTA
ATGGTAATGTAAATAAAAATACTGTTTATATTCACATGATTTTAAGAAAACTGTAAAAGCAAAGATTTTGTAGTAATGACACAAATGTAACAAATAGATGTTTTCTTAAAATTGGCAGTCAGTATAAT
TATGTTTCTGCCTATGATGTTGAGGAAGTTGTATCAGTCTGATTCTTAGTTTTTTCATCTGTTAAGTAGAACGTACTATTACTTACCTTAAAGAGTGGCTTTGAGAATTTTGTAAGGAACAAACATGT
TTTTGGTTCTGGAATATAGGAGGTGCTCAATAAAAGTTGACTCTGACTGGCAAATAATATTGTTTTGTAAATGCATGATGATTATTTTTGGCCATATTTGACTTAGTTTCATTAGGCTAATATTAATT
GGTACTATATGAAAGTGAGTCAACTAATTATAAAAGATTAGAAATGTCTTAGGTGACGATGGGGGAAAAACTTAAAATTTTTGCATAAATTATGGGGAGATGATAGAGTTATTACAGTGTTATTAAGT
ATTCCTATGTTGCATTTTGCAAATACTTAATTTAATACAGATGAAAATAATCTTGAGTCACAATAAAGTAATGATATGTTAAGTTTCAACAGTGTACATTGTAGTAATTTTCTGAAAGTTACAGGTTC
CTCAGAAAAAATTTAAACTAGCTTTATTTCTTTAATAAATTATAAGTAAAAGTTGA

hide sequence

RefSeq Acc Id:

NM_001287598 ⟹ NP_001274527

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,562,144 - 108,569,453 (-)	NCBI
HuRef	7	102,570,811 - 102,578,429 (-)	NCBI
CHM1_1	7	108,135,888 - 108,143,183 (-)	NCBI
T2T-CHM13v2.0	7	109,886,750 - 109,894,061 (-)	NCBI

Sequence:

show sequence

GTGAGGCCTTGGACCTGTGGCCTTTGGGCTTGGGTGTCTCCTGTCCGCTCTGCCAGTGAGTCCT
CAGCTCTCCGTACGTGGCCCGTCGCCCGCGGCAAGACGGAGGGAAGGCGCTAGTTCAGTTTAGCTAGCAATGCCCTTCTTGCGCGAGGACTGCTGGCTGGTGGCGAGGCCCAGGAGCCTGTTTGGGTG
TTAACAGTTAAAACAGTAAAGTTTGCGCGGGCTTCTGTGGTTTTCAGTCTTTTCCCCACTTCACGTGATCTCATTTCATTGAACAACATTAACCACCATTTAAGATACGTGAAACCTGCGAAGTGGAA
AGGTGCACGCAAAGTTAATTTACACCCCCCGCGAGATTTCCTCTACATGACAAAGAAAGACTGGAAAAGTGGTTAAAGAATATGAAGCGAGATTCATGGGTTCCCAGGAAAAGACCCTTCTAAAAAAA
AATCCCAGAAGAAAAACTTGGAAGATGAGAAAGAAGTATGCCCAAAAGCCAAGTCAGAAGAATCATTTGTATTAAATGAGACAAAGAAAAATATAGTTAACACAGATGTGCCCCATCAACATCCAGAA
TTACTTCATTCATCTTCCTTGGTAAAGCCACCAGCTCCCAAAACAGGAAGTATACAAAATAACATGTTAACTCTTAATCTAGTTAAACAACATACTGGGAAACCAGAATCTACCTTGGAAACATCAGT
TAACCAAGATACAGGTAGAGGTGGTTTTCACACATGTTTTGAGAATCTAAATTCTACAACTATTACTTTGACAACTTCAAATTCAGAAAGTATTCATCAATCTTTGGAAACTCAAGAAGTTCTTGAAG
TAACTACCAGTCATCTTGCTAATCCAAACTTTACAAGTAATTCCATGGAAATAAAGTCAGCACAGGAAAATCCATTCTTATTCAGCACAATTAATCAAACAGTTGAAGAATTAAACACAAATAAAGAA
TCTGTTATTGCCATTTTTGTACCTGCTGAAAATTCTAAACCCTCAGTTAATTCTTTTATATCTGCACAAAAAGAAACCACGGAAATGGAAGACACAGACATTGAAGACTCCTTGTATAAGGATGTAGA
CTATGGGACAGAAGTTTTACAAATCGAACATTCTTACTGCAGACAAGATATAAATAAGGAACATCTTTGGCAGAAAGTCTCTAAGCTACATTCAAAGATAACTCTTCTAGAGTTAAAAGAGCAACAAA
CTCTAGGTAGATTGAAGTCTTTGGAAGCTCTTATAAGGCAGCTAAAGCAGGAAAACTGGCTATCTGAAGAAAACGTCAAGATTATAGAAAACCATTTTACAACATATGAAGTCACTATGATATAGAAT
AACTAGGTTTTAAAACTATGGCTGTTAAATAAGCTTTTTCCAGCCAAACCAAACTACATGTAAAGTGAACTGTTTCCTGTATAAAGTTCTCATCTTAATGAACCTATGAGAGTGTTGTAAAGTTATGA
ACTGTATCCTATTCTTGTAATACTTATTTAAGAAAAACCAGAGAGTTGGGCTGGAGAGAAAAGCAGTTTTATTACTTGATAATTTTCCAAATTAAAATTTAGCACATAGAAGGATTCAGTTATAACAT
GAGAAAACAAAGAAGTGTTCAAAGAGCACAGACTAGAAGTCAGGTTCAGGAATCAGTCCTGGTTCTACCACTGGCATATGACTTGGGCAAGTTACTTATGATTGTGCCTCAGTCCCTAATTTGTAAAA
TAAGCACTTACTGGATTTGTAATTGGTTATTTATAGTCCCTTCCCTTTTTATTAAGATAATTCTATTAGAACACATTTTCTGTAAGATAATATATACGTAATACTAGAAGTTGGCTAGAATTTGATGA
TATTAACCATGTATTATTTTCAGTATTTATTGAATTCTGTGGTCTTTGACCTTTTGGCTATAGTTACATATTACAGTTATATTATCTGTAATAGAAAGGAAGATAAACTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTGAGATGGAGTCTCACTCTGTAACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGG
ATTATAGGCACACACCACCACATCCAGCTTATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTGGCCGGGCTGGCCTCGAACTCCTGACCCCAGGTGATCCACCTACCTTGGCCTCCCAAAG
TGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGATAGAACTTTTATAATTTTATTCCAGTTGAACTAAACTAAGGAACCACCCATTAGCCCAGTTCTTAGGAGAGGTACTTCAAACTTGAAA
GAATATGTATTTCGGTAACTTATATGTGGCTAACCATCAAATACATAGTCATCTAAGCTAAACTTTCTGTATTTATACAGTTAAACTTATAAACCAAAAATTTTAATGAGGTTAATTTTAAATATATT
TTAGAAATTACAGTTTGTATCTGTTTCTTAGTAGGTGTGGCCTTTAAAATATGTGCTTATTCATTGTTAAATTCCAGAATAATAGAGTAATACTTAATACTGTACATTCCCACTTACGTATATTTTAT
TAAAATTTATAAGCAAGAAATTATACATAAGTGGTCATGATCTTAGGGAGACAAAGAATTTCTCTTAGAAAAGAGAAGTAATGGTAATGTAAATAAAAATACTGTTTATATTCACATGATTTTAAGAA
AACTGTAAAAGCAAAGATTTTGTAGTAATGACACAAATGTAACAAATAGATGTTTTCTTAAAATTGGCAGTCAGTATAATTATGTTTCTGCCTATGATGTTGAGGAAGTTGTATCAGTCTGATTCTTA
GTTTTTTCATCTGTTAAGTAGAACGTACTATTACTTACCTTAAAGAGTGGCTTTGAGAATTTTGTAAGGAACAAACATGTTTTTGGTTCTGGAATATAGGAGGTGCTCAATAAAAGTTGACTCTGACT
GGCAAATAATATTGTTTTGTAAATGCATGATGATTATTTTTGGCCATATTTGACTTAGTTTCATTAGGCTAATATTAATTGGTACTATATGAAAGTGAGTCAACTAATTATAAAAGATTAGAAATGTC
TTAGGTGACGATGGGGGAAAAACTTAAAATTTTTGCATAAATTATGGGGAGATGATAGAGTTATTACAGTGTTATTAAGTATTCCTATGTTGCATTTTGCAAATACTTAATTTAATACAGATGAAAAT
AATCTTGAGTCACAATAAAGTAATGATATGTTAAGTTTCAACAGTGTACATTGTAGTAATTTTCTGAAAGTTACAGGTTCCTCAGAAAAAATTTAAACTAGCTTTATTTCTTTAATAAATTATA

hide sequence

RefSeq Acc Id:

NM_001287599 ⟹ NP_001274528

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,562,144 - 108,569,768 (-)	NCBI
HuRef	7	102,570,811 - 102,578,429 (-)	NCBI
CHM1_1	7	108,135,888 - 108,143,498 (-)	NCBI
T2T-CHM13v2.0	7	109,886,750 - 109,894,376 (-)	NCBI

Sequence:

show sequence

ACTTCCGGCTTCAACCCCCGAAAAGGCGGTGCTTAAACCGGAGGAGGCGGAAGTGAGTCGACAGACGAGGCGGCTTTCCCGGCAGAATGCTAGCGCAGGCGCAGGGGCTCGAGAGGCCTGGACCTGTG
GCGCATCCTCAGTGAGGAGGGCCGCCCTGCATCCGTCGCCGGCCCCGGTCTCCAGGGGCCTCACCCGAGTCATGCCCCGCTATTGCGCAGCGATTTGTTGTAAGAACCGCCGGGGACGAAACAATAAA
GACCGGAAGCTGAGTTTTTATCCATTTCCTCTACATGACAAAGAAAGACTGGAAAAGTGGTTAAAGAATATGAAGCGAGATTCATGGGTTCCCAGGAAAAGACCCTTCTAAAAAAAAATCCCAGAAGA
AAAACTTGGAAGATGAGAAAGAAGTATGCCCAAAAGCCAAGTCAGAAGAATCATTTGTATTAAATGAGACAAAGAAAAATATAGTTAACACAGATGTGCCCCATCAACATCCAGAATTACTTCATTCA
TCTTCCTTGGTAAAGCCACCAGCTCCCAAAACAGGAAGTATACAAAATAACATGTTAACTCTTAATCTAGTTAAACAACATACTGGGAAACCAGAATCTACCTTGGAAACATCAGTTAACCAAGATAC
AGGTAGAGGTGGTTTTCACACATGTTTTGAGAATCTAAATTCTACAACTATTACTTTGACAACTTCAAATTCAGAAAGTATTCATCAATCTTTGGAAACTCAAGAAGTTCTTGAAGTAACTACCAGTC
ATCTTGCTAATCCAAACTTTACAAGTAATTCCATGGAAATAAAGTCAGCACAGGAAAATCCATTCTTATTCAGCACAATTAATCAAACAGTTGAAGAATTAAACACAAATAAAGAATCTGTTATTGCC
ATTTTTGTACCTGCTGAAAATTCTAAACCCTCAGTTAATTCTTTTATATCTGCACAAAAAGAAACCACGGAAATGGAAGACACAGACATTGAAGACTCCTTGTATAAGGATGTAGACTATGGGACAGA
AGTTTTACAAATCGAACATTCTTACTGCAGACAAGATATAAATAAGGAACATCTTTGGCAGAAAGTCTCTAAGCTACATTCAAAGATAACTCTTCTAGAGTTAAAAGAGCAACAAACTCTAGGTAGAT
TGAAGTCTTTGGAAGCTCTTATAAGGCAGCTAAAGCAGGAAAACTGGCTATCTGAAGAAAACGTCAAGATTATAGAAAACCATTTTACAACATATGAAGTCACTATGATATAGAATAACTAGGTTTTA
AAACTATGGCTGTTAAATAAGCTTTTTCCAGCCAAACCAAACTACATGTAAAGTGAACTGTTTCCTGTATAAAGTTCTCATCTTAATGAACCTATGAGAGTGTTGTAAAGTTATGAACTGTATCCTAT
TCTTGTAATACTTATTTAAGAAAAACCAGAGAGTTGGGCTGGAGAGAAAAGCAGTTTTATTACTTGATAATTTTCCAAATTAAAATTTAGCACATAGAAGGATTCAGTTATAACATGAGAAAACAAAG
AAGTGTTCAAAGAGCACAGACTAGAAGTCAGGTTCAGGAATCAGTCCTGGTTCTACCACTGGCATATGACTTGGGCAAGTTACTTATGATTGTGCCTCAGTCCCTAATTTGTAAAATAAGCACTTACT
GGATTTGTAATTGGTTATTTATAGTCCCTTCCCTTTTTATTAAGATAATTCTATTAGAACACATTTTCTGTAAGATAATATATACGTAATACTAGAAGTTGGCTAGAATTTGATGATATTAACCATGT
ATTATTTTCAGTATTTATTGAATTCTGTGGTCTTTGACCTTTTGGCTATAGTTACATATTACAGTTATATTATCTGTAATAGAAAGGAAGATAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA
GATGGAGTCTCACTCTGTAACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTATAGGCACA
CACCACCACATCCAGCTTATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTGGCCGGGCTGGCCTCGAACTCCTGACCCCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTAC
AGGCGTGAGCCACCGCGCCTGGCCAAGATAGAACTTTTATAATTTTATTCCAGTTGAACTAAACTAAGGAACCACCCATTAGCCCAGTTCTTAGGAGAGGTACTTCAAACTTGAAAGAATATGTATTT
CGGTAACTTATATGTGGCTAACCATCAAATACATAGTCATCTAAGCTAAACTTTCTGTATTTATACAGTTAAACTTATAAACCAAAAATTTTAATGAGGTTAATTTTAAATATATTTTAGAAATTACA
GTTTGTATCTGTTTCTTAGTAGGTGTGGCCTTTAAAATATGTGCTTATTCATTGTTAAATTCCAGAATAATAGAGTAATACTTAATACTGTACATTCCCACTTACGTATATTTTATTAAAATTTATAA
GCAAGAAATTATACATAAGTGGTCATGATCTTAGGGAGACAAAGAATTTCTCTTAGAAAAGAGAAGTAATGGTAATGTAAATAAAAATACTGTTTATATTCACATGATTTTAAGAAAACTGTAAAAGC
AAAGATTTTGTAGTAATGACACAAATGTAACAAATAGATGTTTTCTTAAAATTGGCAGTCAGTATAATTATGTTTCTGCCTATGATGTTGAGGAAGTTGTATCAGTCTGATTCTTAGTTTTTTCATCT
GTTAAGTAGAACGTACTATTACTTACCTTAAAGAGTGGCTTTGAGAATTTTGTAAGGAACAAACATGTTTTTGGTTCTGGAATATAGGAGGTGCTCAATAAAAGTTGACTCTGACTGGCAAATAATAT
TGTTTTGTAAATGCATGATGATTATTTTTGGCCATATTTGACTTAGTTTCATTAGGCTAATATTAATTGGTACTATATGAAAGTGAGTCAACTAATTATAAAAGATTAGAAATGTCTTAGGTGACGAT
GGGGGAAAAACTTAAAATTTTTGCATAAATTATGGGGAGATGATAGAGTTATTACAGTGTTATTAAGTATTCCTATGTTGCATTTTGCAAATACTTAATTTAATACAGATGAAAATAATCTTGAGTCA
CAATAAAGTAATGATATGTTAAGTTTCAACAGTGTACATTGTAGTAATTTTCTGAAAGTTACAGGTTCCTCAGAAAAAATTTAAACTAGCTTTATTTCTTTAATAAATTATA

hide sequence

RefSeq Acc Id:

NM_001287601 ⟹ NP_001274530

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,562,144 - 108,569,768 (-)	NCBI
HuRef	7	102,570,811 - 102,578,429 (-)	NCBI
CHM1_1	7	108,135,888 - 108,143,498 (-)	NCBI
T2T-CHM13v2.0	7	109,886,750 - 109,894,376 (-)	NCBI

Sequence:

show sequence

ACTTCCGGCTTCAACCCCCGAAAAGGCGGTGCTTAAACCGGAGGAGGCGGAAGTGAGTCGACAGACGAGGCGGCTTTCCCGGCAGAATGCTAGCGCAGGCGCAGGGGCTCGAGAGGCCTGGACCTGTG
GCGCATCCTCAGTGAGGAGGGCCGCCCTGCATCCGTCGCCGGCCCCGGTCTCCAGGGGCCTCACCCGAGTCATGCCCCGCTATTGCGCAGCGATTTGTTGTAAGAACCGCCGGGGACGAAACAATAAA
GACCGGAAGCTGAGTTTTTATCCGGAAAAGACCCTTCTAAAAAAAAATCCCAGAAGAAAAACTTGGAAGATGAGAAAGAAGTATGCCCAAAAGCCAAGTCAGAAGAATCATTTGTATTAAATGAGACA
AAGAAAAATATAGTTAACACAGATGTGCCCCATCAACATCCAGAATTACTTCATTCATCTTCCTTGGTAAAGCCACCAGCTCCCAAAACAGGAAGTATACAAAATAACATGTTAACTCTTAATCTAGT
TAAACAACATACTGGGAAACCAGAATCTACCTTGGAAACATCAGTTAACCAAGATACAGGTAGAGGTGGTTTTCACACATGTTTTGAGAATCTAAATTCTACAACTATTACTTTGACAACTTCAAATT
CAGAAAGTATTCATCAATCTTTGGAAACTCAAGAAGTTCTTGAAGTAACTACCAGTCATCTTGCTAATCCAAACTTTACAAGTAATTCCATGGAAATAAAGTCAGCACAGGAAAATCCATTCTTATTC
AGCACAATTAATCAAACAGTTGAAGAATTAAACACAAATAAAGAATCTGTTATTGCCATTTTTGTACCTGCTGAAAATTCTAAACCCTCAGTTAATTCTTTTATATCTGCACAAAAAGAAACCACGGA
AATGGAAGACACAGACATTGAAGACTCCTTGTATAAGGATGTAGACTATGGGACAGAAGTTTTACAAATCGAACATTCTTACTGCAGACAAGATATAAATAAGGAACATCTTTGGCAGAAAGTCTCTA
AGCTACATTCAAAGATAACTCTTCTAGAGTTAAAAGAGCAACAAACTCTAGGTAGATTGAAGTCTTTGGAAGCTCTTATAAGGCAGCTAAAGCAGGAAAACTGGCTATCTGAAGAAAACGTCAAGATT
ATAGAAAACCATTTTACAACATATGAAGTCACTATGATATAGAATAACTAGGTTTTAAAACTATGGCTGTTAAATAAGCTTTTTCCAGCCAAACCAAACTACATGTAAAGTGAACTGTTTCCTGTATA
AAGTTCTCATCTTAATGAACCTATGAGAGTGTTGTAAAGTTATGAACTGTATCCTATTCTTGTAATACTTATTTAAGAAAAACCAGAGAGTTGGGCTGGAGAGAAAAGCAGTTTTATTACTTGATAAT
TTTCCAAATTAAAATTTAGCACATAGAAGGATTCAGTTATAACATGAGAAAACAAAGAAGTGTTCAAAGAGCACAGACTAGAAGTCAGGTTCAGGAATCAGTCCTGGTTCTACCACTGGCATATGACT
TGGGCAAGTTACTTATGATTGTGCCTCAGTCCCTAATTTGTAAAATAAGCACTTACTGGATTTGTAATTGGTTATTTATAGTCCCTTCCCTTTTTATTAAGATAATTCTATTAGAACACATTTTCTGT
AAGATAATATATACGTAATACTAGAAGTTGGCTAGAATTTGATGATATTAACCATGTATTATTTTCAGTATTTATTGAATTCTGTGGTCTTTGACCTTTTGGCTATAGTTACATATTACAGTTATATT
ATCTGTAATAGAAAGGAAGATAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCAGCCTCTGCCTC
CCGGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTATAGGCACACACCACCACATCCAGCTTATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTGGCCGGGCTGGCCT
CGAACTCCTGACCCCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGATAGAACTTTTATAATTTTATTCCAGTTGAACTAAACTAAGGAA
CCACCCATTAGCCCAGTTCTTAGGAGAGGTACTTCAAACTTGAAAGAATATGTATTTCGGTAACTTATATGTGGCTAACCATCAAATACATAGTCATCTAAGCTAAACTTTCTGTATTTATACAGTTA
AACTTATAAACCAAAAATTTTAATGAGGTTAATTTTAAATATATTTTAGAAATTACAGTTTGTATCTGTTTCTTAGTAGGTGTGGCCTTTAAAATATGTGCTTATTCATTGTTAAATTCCAGAATAAT
AGAGTAATACTTAATACTGTACATTCCCACTTACGTATATTTTATTAAAATTTATAAGCAAGAAATTATACATAAGTGGTCATGATCTTAGGGAGACAAAGAATTTCTCTTAGAAAAGAGAAGTAATG
GTAATGTAAATAAAAATACTGTTTATATTCACATGATTTTAAGAAAACTGTAAAAGCAAAGATTTTGTAGTAATGACACAAATGTAACAAATAGATGTTTTCTTAAAATTGGCAGTCAGTATAATTAT
GTTTCTGCCTATGATGTTGAGGAAGTTGTATCAGTCTGATTCTTAGTTTTTTCATCTGTTAAGTAGAACGTACTATTACTTACCTTAAAGAGTGGCTTTGAGAATTTTGTAAGGAACAAACATGTTTT
TGGTTCTGGAATATAGGAGGTGCTCAATAAAAGTTGACTCTGACTGGCAAATAATATTGTTTTGTAAATGCATGATGATTATTTTTGGCCATATTTGACTTAGTTTCATTAGGCTAATATTAATTGGT
ACTATATGAAAGTGAGTCAACTAATTATAAAAGATTAGAAATGTCTTAGGTGACGATGGGGGAAAAACTTAAAATTTTTGCATAAATTATGGGGAGATGATAGAGTTATTACAGTGTTATTAAGTATT
CCTATGTTGCATTTTGCAAATACTTAATTTAATACAGATGAAAATAATCTTGAGTCACAATAAAGTAATGATATGTTAAGTTTCAACAGTGTACATTGTAGTAATTTTCTGAAAGTTACAGGTTCCTC
AGAAAAAATTTAAACTAGCTTTATTTCTTTAATAAATTATA

hide sequence

RefSeq Acc Id:

NM_182529 ⟹ NP_872335

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,562,144 - 108,569,453 (-)	NCBI
GRCh37	7	108,202,671 - 108,210,189 (-)	NCBI
Build 36	7	107,991,766 - 107,997,133 (-)	NCBI Archive
Celera	7	103,016,042 - 103,023,538 (-)	RGD
HuRef	7	102,570,811 - 102,578,429 (-)	NCBI
CHM1_1	7	108,135,888 - 108,143,183 (-)	NCBI
T2T-CHM13v2.0	7	109,886,750 - 109,894,061 (-)	NCBI
CRA_TCAGchr7v2	7	107,569,889 - 107,577,381 (-)	ENTREZGENE

Sequence:

show sequence

GTGAGGCCTTGGACCTGTGGCCTTTGGGCTTGGGTGTCTCCTGTCCGCTCTGCCAGTGAGTCCT
CAGCTCTCCGTACGTGGCCCGTCGCCCGCGGCAAGACGGAGGGAAGGCGCTAGTTCAGTTTAGCTAGCAATGCCCTTCTTGCGCGAGGACTGCTGGCTGGTGGCGAGGCCCAGGAGCCTGTTTGGGTG
TTAACAGTTAAAACAGTAAAGTTTGCGCGGGCTTCTGTGGTTTTCAGTCTTTTCCCCACTTCACGTGATCTCATTTCATTGAACAACATTAACCACCATTTAAGATACGTGAAACCTGCGAAGTGGAA
AGGTGCACGCAAAGTTAATTTACACCCCCCGCGAGATTTCCTCTACATGACAAAGAAAGACTGGAAAAGTGGTTAAAGAATATGAAGCGAGATTCATGGGTTCCCAGTAAATACCAGTTTCTATGTAG
TGACCATTTTACTCCTGACTCTCTTGACATCAGATGGGGTATTCGATATTTAAAACAAACTGCAGTTCCAACAATATTTTCTTTGCCTGAAGACAATCAGGGAAAAGACCCTTCTAAAAAAAAATCCC
AGAAGAAAAACTTGGAAGATGAGAAAGAAGTATGCCCAAAAGCCAAGTCAGAAGAATCATTTGTATTAAATGAGACAAAGAAAAATATAGTTAACACAGATGTGCCCCATCAACATCCAGAATTACTT
CATTCATCTTCCTTGGTAAAGCCACCAGCTCCCAAAACAGGAAGTATACAAAATAACATGTTAACTCTTAATCTAGTTAAACAACATACTGGGAAACCAGAATCTACCTTGGAAACATCAGTTAACCA
AGATACAGGTAGAGGTGGTTTTCACACATGTTTTGAGAATCTAAATTCTACAACTATTACTTTGACAACTTCAAATTCAGAAAGTATTCATCAATCTTTGGAAACTCAAGAAGTTCTTGAAGTAACTA
CCAGTCATCTTGCTAATCCAAACTTTACAAGTAATTCCATGGAAATAAAGTCAGCACAGGAAAATCCATTCTTATTCAGCACAATTAATCAAACAGTTGAAGAATTAAACACAAATAAAGAATCTGTT
ATTGCCATTTTTGTACCTGCTGAAAATTCTAAACCCTCAGTTAATTCTTTTATATCTGCACAAAAAGAAACCACGGAAATGGAAGACACAGACATTGAAGACTCCTTGTATAAGGATGTAGACTATGG
GACAGAAGTTTTACAAATCGAACATTCTTACTGCAGACAAGATATAAATAAGGAACATCTTTGGCAGAAAGTCTCTAAGCTACATTCAAAGATAACTCTTCTAGAGTTAAAAGAGCAACAAACTCTAG
GTAGATTGAAGTCTTTGGAAGCTCTTATAAGGCAGCTAAAGCAGGAAAACTGGCTATCTGAAGAAAACGTCAAGATTATAGAAAACCATTTTACAACATATGAAGTCACTATGATATAGAATAACTAG
GTTTTAAAACTATGGCTGTTAAATAAGCTTTTTCCAGCCAAACCAAACTACATGTAAAGTGAACTGTTTCCTGTATAAAGTTCTCATCTTAATGAACCTATGAGAGTGTTGTAAAGTTATGAACTGTA
TCCTATTCTTGTAATACTTATTTAAGAAAAACCAGAGAGTTGGGCTGGAGAGAAAAGCAGTTTTATTACTTGATAATTTTCCAAATTAAAATTTAGCACATAGAAGGATTCAGTTATAACATGAGAAA
ACAAAGAAGTGTTCAAAGAGCACAGACTAGAAGTCAGGTTCAGGAATCAGTCCTGGTTCTACCACTGGCATATGACTTGGGCAAGTTACTTATGATTGTGCCTCAGTCCCTAATTTGTAAAATAAGCA
CTTACTGGATTTGTAATTGGTTATTTATAGTCCCTTCCCTTTTTATTAAGATAATTCTATTAGAACACATTTTCTGTAAGATAATATATACGTAATACTAGAAGTTGGCTAGAATTTGATGATATTAA
CCATGTATTATTTTCAGTATTTATTGAATTCTGTGGTCTTTGACCTTTTGGCTATAGTTACATATTACAGTTATATTATCTGTAATAGAAAGGAAGATAAACTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTGAGATGGAGTCTCACTCTGTAACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTATA
GGCACACACCACCACATCCAGCTTATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTGGCCGGGCTGGCCTCGAACTCCTGACCCCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGG
GATTACAGGCGTGAGCCACCGCGCCTGGCCAAGATAGAACTTTTATAATTTTATTCCAGTTGAACTAAACTAAGGAACCACCCATTAGCCCAGTTCTTAGGAGAGGTACTTCAAACTTGAAAGAATAT
GTATTTCGGTAACTTATATGTGGCTAACCATCAAATACATAGTCATCTAAGCTAAACTTTCTGTATTTATACAGTTAAACTTATAAACCAAAAATTTTAATGAGGTTAATTTTAAATATATTTTAGAA
ATTACAGTTTGTATCTGTTTCTTAGTAGGTGTGGCCTTTAAAATATGTGCTTATTCATTGTTAAATTCCAGAATAATAGAGTAATACTTAATACTGTACATTCCCACTTACGTATATTTTATTAAAAT
TTATAAGCAAGAAATTATACATAAGTGGTCATGATCTTAGGGAGACAAAGAATTTCTCTTAGAAAAGAGAAGTAATGGTAATGTAAATAAAAATACTGTTTATATTCACATGATTTTAAGAAAACTGT
AAAAGCAAAGATTTTGTAGTAATGACACAAATGTAACAAATAGATGTTTTCTTAAAATTGGCAGTCAGTATAATTATGTTTCTGCCTATGATGTTGAGGAAGTTGTATCAGTCTGATTCTTAGTTTTT
TCATCTGTTAAGTAGAACGTACTATTACTTACCTTAAAGAGTGGCTTTGAGAATTTTGTAAGGAACAAACATGTTTTTGGTTCTGGAATATAGGAGGTGCTCAATAAAAGTTGACTCTGACTGGCAAA
TAATATTGTTTTGTAAATGCATGATGATTATTTTTGGCCATATTTGACTTAGTTTCATTAGGCTAATATTAATTGGTACTATATGAAAGTGAGTCAACTAATTATAAAAGATTAGAAATGTCTTAGGT
GACGATGGGGGAAAAACTTAAAATTTTTGCATAAATTATGGGGAGATGATAGAGTTATTACAGTGTTATTAAGTATTCCTATGTTGCATTTTGCAAATACTTAATTTAATACAGATGAAAATAATCTT
GAGTCACAATAAAGTAATGATATGTTAAGTTTCAACAGTGTACATTGTAGTAATTTTCTGAAAGTTACAGGTTCCTCAGAAAAAATTTAAACTAGCTTTATTTCTTTAATAAATTATA

hide sequence

RefSeq Acc Id:

XM_047419934 ⟹ XP_047275890

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,554,545 - 108,569,768 (-)	NCBI

RefSeq Acc Id:

XM_054357385 ⟹ XP_054213360

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	109,879,152 - 109,894,376 (-)	NCBI

RefSeq Acc Id:

XR_007059987

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,541,759 - 108,569,768 (-)	NCBI

RefSeq Acc Id:

XR_008487538

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	109,865,676 - 109,894,376 (-)	NCBI


Protein RefSeqs	NP_001123947	(Get FASTA)	NCBI Sequence Viewer
	NP_001274527	(Get FASTA)	NCBI Sequence Viewer
	NP_001274528	(Get FASTA)	NCBI Sequence Viewer
	NP_001274530	(Get FASTA)	NCBI Sequence Viewer
	NP_872335	(Get FASTA)	NCBI Sequence Viewer
	XP_047275890	(Get FASTA)	NCBI Sequence Viewer
	XP_054213360	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH53634	(Get FASTA)	NCBI Sequence Viewer
	EAL24383	(Get FASTA)	NCBI Sequence Viewer
	EAW83436	(Get FASTA)	NCBI Sequence Viewer
	EAW83437	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000322440
	ENSP00000322440.5
	ENSP00000400500
	ENSP00000400500.2
GenBank Protein	Q7Z6K1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001123947 ⟸ NM_001130475
- Peptide Label:	isoform 1
- UniProtKB:	Q7Z6K1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPRYCAAICCKNRRGRNNKDRKLSFYPFPLHDKERLEKWLKNMKRDSWVPSKYQFLCSDHFTPDSLDIRWGIRYLKQTAVPTIFSLPEDNQGKDPSKKKSQKKNLEDEKEVCPKAKSEESFVLNETKK NIVNTDVPHQHPELLHSSSLVKPPAPKTGSIQNNMLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEVTTSHLANPNFTSNSMEIKSAQENPFLFST INQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSLEALIRQLKQENWLSEENVKIIE NHFTTYEVTMI hide sequence

RefSeq Acc Id:	NP_872335 ⟸ NM_182529
- Peptide Label:	isoform 2
- UniProtKB:	Q7Z6K1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKRDSWVPSKYQFLCSDHFTPDSLDIRWGIRYLKQTAVPTIFSLPEDNQGKDPSKKKSQKKNLE DEKEVCPKAKSEESFVLNETKKNIVNTDVPHQHPELLHSSSLVKPPAPKTGSIQNNMLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEVTTSHLAN PNFTSNSMEIKSAQENPFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQTLGRLKSL EALIRQLKQENWLSEENVKIIENHFTTYEVTMI hide sequence

RefSeq Acc Id:	NP_001274530 ⟸ NM_001287601
- Peptide Label:	isoform 3
- UniProtKB:	A4D226 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLE VTTSHLANPNFTSNSMEIKSAQENPFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQ TLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI hide sequence

RefSeq Acc Id:	NP_001274528 ⟸ NM_001287599
- Peptide Label:	isoform 3
- UniProtKB:	A4D226 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLE VTTSHLANPNFTSNSMEIKSAQENPFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQ TLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI hide sequence

RefSeq Acc Id:	NP_001274527 ⟸ NM_001287598
- Peptide Label:	isoform 3
- UniProtKB:	A4D226 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLE VTTSHLANPNFTSNSMEIKSAQENPFLFSTINQTVEELNTNKESVIAIFVPAENSKPSVNSFISAQKETTEMEDTDIEDSLYKDVDYGTEVLQIEHSYCRQDINKEHLWQKVSKLHSKITLLELKEQQ TLGRLKSLEALIRQLKQENWLSEENVKIIENHFTTYEVTMI hide sequence

Protein Domains

THAP-type

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q7Z6K1-F1-model_v2	AlphaFold	Q7Z6K1	1-395	view protein structure

RGD ID:

6806042

Promoter ID:

HG_KWN:59274

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001130475, NM_182529, OTTHUMT00000337481, OTTHUMT00000337779, OTTHUMT00000337780, OTTHUMT00000337781, OTTHUMT00000337782, OTTHUMT00000337783, OTTHUMT00000337784, OTTHUMT00000337785

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	107,996,486 - 107,998,302 (-)	MPROMDB

RGD ID:

7211661

Promoter ID:

EPDNEW_H11576

Type:

multiple initiation site

Name:

THAP5_2

Description:

THAP domain containing 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H11577 EPDNEW_H11578

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,563,536 - 108,563,596	EPDNEW

RGD ID:

7211663

Promoter ID:

EPDNEW_H11577

Type:

initiation region

Name:

THAP5_3

Description:

THAP domain containing 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H11576 EPDNEW_H11578

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,569,493 - 108,569,553	EPDNEW

RGD ID:

7211665

Promoter ID:

EPDNEW_H11578

Type:

initiation region

Name:

THAP5_1

Description:

THAP domain containing 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H11576 EPDNEW_H11577

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	108,569,706 - 108,569,766	EPDNEW

Database	Acc Id	Source(s)
COSMIC	THAP5	COSMIC
Ensembl Genes	ENSG00000177683	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000313516	ENTREZGENE
	ENST00000313516.5	UniProtKB/Swiss-Prot
	ENST00000415914	ENTREZGENE
	ENST00000415914.4	UniProtKB/Swiss-Prot
GTEx	ENSG00000177683	GTEx
HGNC ID	HGNC:23188	ENTREZGENE
Human Proteome Map	THAP5	Human Proteome Map
InterPro	THAP_domain_protein	UniProtKB/Swiss-Prot
	THAP_Znf	UniProtKB/Swiss-Prot
KEGG Report	hsa:168451	UniProtKB/Swiss-Prot
NCBI Gene	168451	ENTREZGENE
OMIM	612534	OMIM
PANTHER	AGAP005574-PA	UniProtKB/Swiss-Prot
	THAP DOMAIN-CONTAINING PROTEIN 5	UniProtKB/Swiss-Prot
Pfam	THAP	UniProtKB/Swiss-Prot
PharmGKB	PA134905837	PharmGKB
PROSITE	ZF_THAP	UniProtKB/Swiss-Prot
SMART	DM3	UniProtKB/Swiss-Prot
	THAP	UniProtKB/Swiss-Prot
Superfamily-SCOP	Glucocorticoid receptor-like (DNA-binding domain)	UniProtKB/Swiss-Prot
UniProt	A4D226	ENTREZGENE, UniProtKB/TrEMBL
	C9JIH7_HUMAN	UniProtKB/TrEMBL
	Q7Z6K1	ENTREZGENE, UniProtKB/Swiss-Prot

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar