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GAGE12I
Chr XG antigen 12I
Also known as: AL4, CT4.7, GAGE-7B, GAGE7B
GAGE12I encodes a tumor antigen that is normally expressed only in testis but becomes aberrantly expressed in various tumors, where it can be recognized by cytotoxic T lymphocytes. Based on the available information, there are no established pediatric neurological disorders associated with mutations in this gene. This gene appears to function primarily in cancer immunology rather than normal neurological development.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GAGE12I?content-type=application/json&expand=1
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 79 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 18 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 100 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAGE12I · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools