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Analyze GeneStrainQTL List |
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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | (-)-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 | aflatoxin B1 | decreases expression | EXP | | 6480464 | Aflatoxin B1 results in decreased expression of THAP5 mRNA | CTD | PMID:27153756 | aflatoxin B1 | decreases methylation | EXP | | 6480464 | Aflatoxin B1 results in decreased methylation of THAP5 gene | CTD | PMID:27153756 | aflatoxin M1 | decreases expression | EXP | | 6480464 | Aflatoxin M1 results in decreased expression of THAP5 mRNA | CTD | PMID:30928695 | antirheumatic drug | increases expression | EXP | | 6480464 | Antirheumatic Agents results in increased expression of THAP5 mRNA | CTD | PMID:24449571 | arsenite(3-) | decreases methylation | EXP | | 6480464 | arsenite results in decreased methylation of THAP5 promoter | CTD | PMID:23974009 | cisplatin | increases expression | EXP | | 6480464 | Cisplatin results in increased expression of THAP5 protein | CTD | PMID:21110952 | cyclosporin A | increases expression | EXP | | 6480464 | Cyclosporine results in increased expression of THAP5 mRNA | CTD | PMID:27989131 | doxorubicin | decreases expression | EXP | | 6480464 | Doxorubicin results in decreased expression of THAP5 mRNA | CTD | PMID:29803840 | methyl methanesulfonate | increases expression | EXP | | 6480464 | Methyl Methanesulfonate results in increased expression of THAP5 mRNA | CTD | PMID:23649840 | potassium chromate | increases expression | EXP | | 6480464 | potassium chromate(VI) results in increased expression of THAP5 mRNA | CTD | PMID:22079256 | potassium chromate | multiple interactions | EXP | | 6480464 | [potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of THAP5 mRNA | CTD | PMID:22079256 | valproic acid | decreases methylation | EXP | | 6480464 | Valproic Acid results in decreased methylation of THAP5 gene | CTD | PMID:29154799 | valproic acid | increases expression | EXP | | 6480464 | Valproic Acid results in increased expression of THAP5 mRNA | CTD | PMID:29154799 | |
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1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 12477932 12575992 12690205 15231748 17207965 19274049 19502560 20602751 21110952 21195082 22006218 |
THAP5 (Homo sapiens - human) |
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Thap5 (Chinchilla lanigera - long-tailed chinchilla) |
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THAP5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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THAP5 (Canis lupus familiaris - dog) |
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Thap5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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THAP5 (Sus scrofa - pig) |
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SHGC-36567 |
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G36369 |
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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. |
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 | |
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 |
RefSeq Acc Id: | NM_001130475 ⟹ NP_001123947 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
ACTTCCGGCTTCAACCCCCGAAAAGGCGGTGCTTAAACCGGAGGAGGCGGAAGTGAGTCGACAGhide sequence |
RefSeq Acc Id: | NM_001287598 ⟹ NP_001274527 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
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Sequence: |
GTGAGGCCTTGGACCTGTGGCCTTTGGGCTTGGGTGTCTCCTGTCCGCTCTGCCAGTGAGTCCThide sequence |
RefSeq Acc Id: | NM_001287599 ⟹ NP_001274528 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
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Sequence: |
ACTTCCGGCTTCAACCCCCGAAAAGGCGGTGCTTAAACCGGAGGAGGCGGAAGTGAGTCGACAGhide sequence |
RefSeq Acc Id: | NM_001287601 ⟹ NP_001274530 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
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Sequence: |
ACTTCCGGCTTCAACCCCCGAAAAGGCGGTGCTTAAACCGGAGGAGGCGGAAGTGAGTCGACAGhide sequence |
RefSeq Acc Id: | NM_182529 ⟹ NP_872335 | |||||||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GTGAGGCCTTGGACCTGTGGCCTTTGGGCTTGGGTGTCTCCTGTCCGCTCTGCCAGTGAGTCCThide sequence |
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 | |
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 | |
Q7Z6K1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001123947 ⟸ NM_001130475 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q7Z6K1 (UniProtKB/Swiss-Prot) |
- Sequence: |
MPRYCAAICCKNRRGRNNKDRKLSFYPFPLHDKERLEKWLKNMKRDSWVPSKYQFLCSDHFTPDhide sequence |
RefSeq Acc Id: | NP_872335 ⟸ NM_182529 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q7Z6K1 (UniProtKB/Swiss-Prot) |
- Sequence: |
MKRDSWVPSKYQFLCSDHFTPDSLDIRWGIRYLKQTAVPTIFSLPEDNQGKDPSKKKSQKKNLEhide sequence |
RefSeq Acc Id: | NP_001274530 ⟸ NM_001287601 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q7Z6K1 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEhide sequence |
RefSeq Acc Id: | NP_001274528 ⟸ NM_001287599 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q7Z6K1 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEhide sequence |
RefSeq Acc Id: | NP_001274527 ⟸ NM_001287598 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q7Z6K1 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLTLNLVKQHTGKPESTLETSVNQDTGRGGFHTCFENLNSTTITLTTSNSESIHQSLETQEVLEhide sequence |
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: |
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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/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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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/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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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/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 | copy number loss | Global developmental delay [RCV000050924]|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 | Ambiguous genitalia [RCV000052250]|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 | Autism [RCV000054158]|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 | Speech-language disorder 1 [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 |
Database | Acc Id | Source(s) |
COSMIC | THAP5 | COSMIC |
Ensembl Genes | ENSG00000177683 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000322440 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000400500 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000415841 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000313516 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000415914 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000438865 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.40.180 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000177683 | GTEx |
HGNC ID | HGNC:23188 | ENTREZGENE |
Human Proteome Map | THAP5 | Human Proteome Map |
InterPro | THAP_Znf | UniProtKB/Swiss-Prot |
THAP_Znf_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:168451 | UniProtKB/Swiss-Prot |
NCBI Gene | 168451 | ENTREZGENE |
OMIM | 612534 | OMIM |
Pfam | THAP | UniProtKB/Swiss-Prot |
PharmGKB | PA134905837 | PharmGKB |
PROSITE | ZF_THAP | UniProtKB/Swiss-Prot |
SMART | DM3 | UniProtKB/Swiss-Prot |
THAP | UniProtKB/Swiss-Prot | |
UniGene | Hs.707689 | ENTREZGENE |
UniProt | C9JIH7_HUMAN | UniProtKB/TrEMBL |
Q7Z6K1 | ENTREZGENE, UniProtKB/Swiss-Prot |
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More on THAP5 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1353274 |
Created: | 2005-03-08 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.