GAGE13

G antigen 13, the group of GAGE family

Basic information

Region (hg38): X:49331581-49338949

Previous symbols: [ "GAGE12A" ]

Links

ENSG00000274274 ∙ NCBI:645051 ∙ OMIM:300734 ∙ HGNC:29081 ∙ Uniprot:Q4V321 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GAGE13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAGE13 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in GAGE13

This is a list of pathogenic ClinVar variants found in the GAGE13 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-49332765-T-C		not specified	Uncertain significance (Jan 23, 2024)
X-49332772-C-G		not specified	Likely benign (Mar 19, 2024)
X-49332816-A-G		not specified	Uncertain significance (Mar 11, 2022)
X-49333305-G-A		not specified	Uncertain significance (Sep 20, 2023)
X-49333324-C-T		not specified	Uncertain significance (Dec 17, 2023)
X-49333383-G-A		not specified	Uncertain significance (Jun 21, 2023)
X-49333393-C-G		not specified	Uncertain significance (Sep 21, 2023)
X-49336249-C-T		Inborn genetic diseases	Uncertain significance (Apr 13, 2022)
X-49336262-C-A		not specified	Uncertain significance (Apr 04, 2024)
X-49336273-G-A		not specified	Uncertain significance (Nov 28, 2023)
X-49336330-A-G		Inborn genetic diseases	Likely benign (Sep 17, 2021)
X-49336339-C-T		not specified	Uncertain significance (Jan 11, 2023)
X-49336346-C-T		not specified	Uncertain significance (Apr 09, 2024)
X-49336361-C-G		not specified	Uncertain significance (May 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 2.07e-7