GAGE12E
Chr XG antigen 12E
Also known as: GAGE-12B
Clinical Summary— GAGE12E
📋
ClinVar Variants
82 unique Pathogenic / Likely Pathogenic· 16 VUS of 100 total submissions
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Pathogenic80
Likely Pathogenic2
VUS16
Likely Benign2
80
Pathogenic
2
Likely Pathogenic
16
VUS
2
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 80 | 0 | 80 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 8 | 8 | 0 | 16 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 10 | 90 | 0 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAGE12E · 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 →Clinical Literature
Open Research Assistant →Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Growth differentiation factor 1-induced tumour plasticity provides a therapeutic window for immunotherapy in hepatocellular carcinoma
Cheng W et al.·Nat Commun
2021
Global identification of mammalian host and nested gene pairs reveal tissue-specific transcriptional interplay
Montibus B et al.·Genome Res
2024
Case Report: Sequential Chemotherapy and Immunotherapy Produce Sustained Response in Osteosarcoma With High Tumor Mutational Burden
Zheng S et al.·Front Endocrinol (Lausanne)
2021Case report
A new 12-gene diagnostic biomarker signature of melanoma revealed by integrated microarray analysis
Liu W et al.·PeerJ
2013
An NMF-Based Methodology for Selecting Biomarkers in the Landscape of Genes of Heterogeneous Cancer-Associated Fibroblast Populations
Esposito F et al.·Bioinform Biol Insights
2020
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools