THAP5 (THAP domain containing 5) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: THAP5 (THAP domain containing 5) Homo sapiens
Analyze
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
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: THAP5P1   THAP5P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387108,541,759 - 108,569,768 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7108,554,543 - 108,569,750 (-)EnsemblGRCh38hg38GRCh38
GRCh377108,202,576 - 108,210,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,991,766 - 107,997,133 (-)NCBINCBI36Build 36hg18NCBI36
Build 347107,798,482 - 107,803,848NCBI
Celera7103,016,042 - 103,023,538 (-)NCBICelera
Cytogenetic Map7q31.1NCBI
HuRef7102,570,894 - 102,578,384 (-)NCBIHuRef
CHM1_17108,135,971 - 108,143,453 (-)NCBICHM1_1
T2T-CHM13v2.07109,865,676 - 109,894,376 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27107,569,889 - 107,577,381 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# 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
Additional References at PubMed
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  


Genomics

Comparative Map Data
THAP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387108,541,759 - 108,569,768 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7108,554,543 - 108,569,750 (-)EnsemblGRCh38hg38GRCh38
GRCh377108,202,576 - 108,210,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,991,766 - 107,997,133 (-)NCBINCBI36Build 36hg18NCBI36
Build 347107,798,482 - 107,803,848NCBI
Celera7103,016,042 - 103,023,538 (-)NCBICelera
Cytogenetic Map7q31.1NCBI
HuRef7102,570,894 - 102,578,384 (-)NCBIHuRef
CHM1_17108,135,971 - 108,143,453 (-)NCBICHM1_1
T2T-CHM13v2.07109,865,676 - 109,894,376 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27107,569,889 - 107,577,381 (-)NCBI
Thap5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541012,808,700 - 12,815,193 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541012,808,700 - 12,814,915 (-)NCBIChiLan1.0ChiLan1.0
THAP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26145,412,123 - 145,419,606 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17193,682,093 - 193,689,576 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07100,547,874 - 100,555,416 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17113,266,499 - 113,274,038 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7113,266,499 - 113,274,033 (-)Ensemblpanpan1.1panPan2
THAP5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11448,738,882 - 48,880,295 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1448,873,990 - 48,880,266 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1448,183,037 - 48,324,132 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01448,681,884 - 48,829,752 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1448,822,741 - 48,829,735 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11448,786,690 - 48,926,847 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01448,466,945 - 48,610,709 (-)NCBIUNSW_CanFamBas_1.0
Thap5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511868,395,316 - 68,402,923 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366531,544,613 - 1,554,216 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366531,546,682 - 1,554,347 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THAP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1836,584,373 - 36,592,252 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11836,584,359 - 36,592,255 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21840,224,757 - 40,232,666 (+)NCBISscrofa10.2Sscrofa10.2susScr3
THAP5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12177,469,566 - 77,477,190 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2177,471,631 - 77,477,733 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604226,386,093 - 26,393,350 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Thap5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473921,193,484 - 21,199,103 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473921,193,399 - 21,220,936 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in THAP5
18 total Variants

Clinical 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 7q31.1(chr7:108154329-108464788)x3 copy number gain not provided [RCV000746963] Chr7:108154329..108464788 [GRCh37]
Chr7:7q31.1		 benign
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.610A>G (p.Thr204Ala) single nucleotide variant not specified [RCV004275045] Chr7:108564769 [GRCh38]
Chr7:108205213 [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
miRNA Target Status

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407216359GWAS865335_HMyopia QTL GWAS865335 (human)6e-11Myopia7108553990108553991Human

Markers in Region
SHGC-36567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377108,202,976 - 108,203,050UniSTSGRCh37
GRCh377158,413,314 - 158,413,388UniSTSGRCh37
Build 367107,990,212 - 107,990,286RGDNCBI36
Celera7103,016,347 - 103,016,421RGD
Celera7152,845,918 - 152,845,992UniSTS
Cytogenetic Map7q31.1UniSTS
HuRef7102,571,199 - 102,571,273UniSTS
HuRef7152,152,537 - 152,152,611UniSTS
CRA_TCAGchr7v27157,617,972 - 157,618,046UniSTS
CRA_TCAGchr7v27107,570,194 - 107,570,268UniSTS
G36369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377108,207,065 - 108,207,202UniSTSGRCh37
Build 367107,994,301 - 107,994,438RGDNCBI36
Celera7103,020,436 - 103,020,573RGD
Cytogenetic Map7q31.1UniSTS
HuRef7102,575,282 - 102,575,419UniSTS
CRA_TCAGchr7v27107,574,279 - 107,574,416UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
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 AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,564,086 - 108,569,453 (-)Ensembl
Ensembl Acc Id: ENST00000412935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,564,993 - 108,569,669 (-)Ensembl
Ensembl Acc Id: ENST00000415914   ⟹   ENSP00000400500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,562,132 - 108,569,706 (-)Ensembl
Ensembl Acc Id: ENST00000438865   ⟹   ENSP00000415841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,564,570 - 108,569,750 (-)Ensembl
Ensembl Acc Id: ENST00000446771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,564,993 - 108,569,256 (-)Ensembl
Ensembl Acc Id: ENST00000468884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,554,543 - 108,569,597 (-)Ensembl
Ensembl Acc Id: ENST00000484452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,565,171 - 108,569,688 (-)Ensembl
Ensembl Acc Id: ENST00000493722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7108,564,382 - 108,569,645 (-)Ensembl
RefSeq Acc Id: NM_001130475   ⟹   NP_001123947
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,562,132 - 108,569,706 (-)NCBI
GRCh377108,202,671 - 108,210,189 (-)NCBI
Celera7103,016,042 - 103,023,538 (-)RGD
HuRef7102,570,811 - 102,578,429 (-)NCBI
CHM1_17108,135,888 - 108,143,498 (-)NCBI
T2T-CHM13v2.07109,886,738 - 109,894,314 (-)NCBI
CRA_TCAGchr7v27107,569,889 - 107,577,381 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001287598   ⟹   NP_001274527
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,562,144 - 108,569,453 (-)NCBI
HuRef7102,570,811 - 102,578,429 (-)NCBI
CHM1_17108,135,888 - 108,143,183 (-)NCBI
T2T-CHM13v2.07109,886,750 - 109,894,061 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287599   ⟹   NP_001274528
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,562,144 - 108,569,768 (-)NCBI
HuRef7102,570,811 - 102,578,429 (-)NCBI
CHM1_17108,135,888 - 108,143,498 (-)NCBI
T2T-CHM13v2.07109,886,750 - 109,894,376 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287601   ⟹   NP_001274530
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,562,144 - 108,569,768 (-)NCBI
HuRef7102,570,811 - 102,578,429 (-)NCBI
CHM1_17108,135,888 - 108,143,498 (-)NCBI
T2T-CHM13v2.07109,886,750 - 109,894,376 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182529   ⟹   NP_872335
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,562,144 - 108,569,453 (-)NCBI
GRCh377108,202,671 - 108,210,189 (-)NCBI
Build 367107,991,766 - 107,997,133 (-)NCBI Archive
Celera7103,016,042 - 103,023,538 (-)RGD
HuRef7102,570,811 - 102,578,429 (-)NCBI
CHM1_17108,135,888 - 108,143,183 (-)NCBI
T2T-CHM13v2.07109,886,750 - 109,894,061 (-)NCBI
CRA_TCAGchr7v27107,569,889 - 107,577,381 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047419934   ⟹   XP_047275890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,554,545 - 108,569,768 (-)NCBI
RefSeq Acc Id: XM_054357385   ⟹   XP_054213360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07109,879,152 - 109,894,376 (-)NCBI
RefSeq Acc Id: XR_007059987
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,541,759 - 108,569,768 (-)NCBI
RefSeq Acc Id: XR_008487538
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07109,865,676 - 109,894,376 (-)NCBI
RefSeq Acc Id: NP_001123947   ⟸   NM_001130475
- Peptide Label: isoform 1
- UniProtKB: Q7Z6K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_872335   ⟸   NM_182529
- Peptide Label: isoform 2
- UniProtKB: Q7Z6K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274530   ⟸   NM_001287601
- Peptide Label: isoform 3
- UniProtKB: A4D226 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274528   ⟸   NM_001287599
- Peptide Label: isoform 3
- UniProtKB: A4D226 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274527   ⟸   NM_001287598
- Peptide Label: isoform 3
- UniProtKB: A4D226 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000415841   ⟸   ENST00000438865
Ensembl Acc Id: ENSP00000400500   ⟸   ENST00000415914
Ensembl Acc Id: ENSP00000322440   ⟸   ENST00000313516
RefSeq Acc Id: XP_047275890   ⟸   XM_047419934
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213360   ⟸   XM_054357385
- Peptide Label: isoform X1
Protein Domains
THAP-type

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

Promoters
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 AssemblyChrPosition (strand)Source
Build 367107,996,486 - 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 AssemblyChrPosition (strand)Source
GRCh387108,563,536 - 108,563,596EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh387108,569,493 - 108,569,553EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh387108,569,706 - 108,569,766EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23188 AgrOrtholog
COSMIC THAP5 COSMIC
Ensembl Genes ENSG00000177683 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000313516 ENTREZGENE
  ENST00000313516.5 UniProtKB/Swiss-Prot
  ENST00000415914 ENTREZGENE
  ENST00000415914.4 UniProtKB/Swiss-Prot
  ENST00000438865.1 UniProtKB/TrEMBL
GTEx ENSG00000177683 GTEx
HGNC ID HGNC:23188 ENTREZGENE
Human Proteome Map THAP5 Human Proteome Map
InterPro THAP_domain_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THAP_Znf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:168451 UniProtKB/Swiss-Prot
NCBI Gene 168451 ENTREZGENE
OMIM 612534 OMIM
PANTHER AGAP005574-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THAP DOMAIN-CONTAINING PROTEIN 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam THAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134905837 PharmGKB
PROSITE ZF_THAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DM3 UniProtKB/Swiss-Prot
  THAP UniProtKB/Swiss-Prot
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D226 ENTREZGENE, UniProtKB/TrEMBL
  C9JIH7_HUMAN UniProtKB/TrEMBL
  Q7Z6K1 ENTREZGENE, UniProtKB/Swiss-Prot