Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55145
MIM: 609520
HGNC: 20856
Ensembl: ENSG00000131931
Variants:
dbSNP: 55145
ClinVar: 55145
TCGA: ENSG00000131931
COSMIC: THAP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000131931 | ENST00000254250 | Q9NVV9 |
| ENSG00000131931 | ENST00000345117 | Q9NVV9 |
| ENSG00000131931 | ENST00000529779 | E9PIS9 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34686877 | 2022 | A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding. | 5 |
| 35015830 | 2022 | DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. | 5 |
| 34686877 | 2022 | A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding. | 5 |
| 35015830 | 2022 | DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. | 5 |
| 33369735 | 2021 | Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6. | 12 |
| 33547842 | 2021 | Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model. | 10 |
| 34672987 | 2021 | Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. | 9 |
| 33369735 | 2021 | Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6. | 12 |
| 33547842 | 2021 | Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model. | 10 |
| 34672987 | 2021 | Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. | 9 |
| 32112337 | 2020 | Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia. | 7 |
| 32112337 | 2020 | Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia. | 7 |
| 29364887 | 2018 | Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. | 34 |
| 29364887 | 2018 | Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. | 34 |
| 26940431 | 2017 | New THAP1 mutation and role of putative modifier in TOR1A. | 0 |
Citation
Dessen P
THAP1 (THAP domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2004-02-01
Online version: http://atlasgeneticsoncology.org/gene/42546/thap1-(thap-domain-containing-1)
