Gene
ATXN7
ataxin 7
Explore in graph →CI-GENE-00021470HGNC:10560 ENSG00000163635 NCBI 6314 CIViC Approved
Curated evidence
Clinical evidence (4)
CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 28584132
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| ATXN7 P40Q1 | ||||||||
| (oncogenic) | Malignant Thyroid Gland Neoplasm | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID9863Mutations in the polyglutamine domain of ATXN7 were identified in a forward genetic screen of HRAS G12V mutant thyroid follicular cells using a transposon-based mutagenesis system. Thyroid cancer-deri… (full text at CIViC) PMID 28584132 · Montero-Conde et al., 2017 · Open in CIViC | civic |
| ATXN7 P42_P43insP1 | ||||||||
| (oncogenic) | Malignant Thyroid Gland Neoplasm | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID9864Mutations in the polyglutamine domain of ATXN7 were identified in a forward genetic screen of HRAS G12V mutant thyroid follicular cells using a transposon-based mutagenesis system. Thyroid cancer-deri… (full text at CIViC) | |
Cohorts
Alteration frequency by cohort (12)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
- Source
- cBioPortal for Cancer Genomics (public studies)
- Dataset
- cBioPortal mutated genes by study
- Version
- cbioportal-2026-09-01
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- ODC Open Database License (ODC-ODbL) unless otherwise noted per study; attribution to the original studies required
- PMID
- 36355783
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Colorectal Cancer (MSK, Cancer Discovery 2022) coadread_mskresistance_2022 | Colorectal Adenocarcinoma | Ssm | 8 |
Literature
Linked publications (0)
Data not yet available