GAGE13

Gene

G antigen 13, the group of GAGE family

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:
  • GAGE12A

MANE transcript

NM_001098412.4

Inheritance

—

ClinVar variants

U:32B:5

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chrX:49,331,582-49,338,949

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~7.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GAGE13 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 35
Inborn genetic diseasesTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001098412.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
32
clinvar
5
clinvar
37
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00325037
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001098412.4RefSeqNP_001091882.24MANE Select
ENST00000612958.2EnsemblENSP00000483811.14MANE Select
ENST00000932315.1EnsemblENSP00000602374.14Standard
ENST00000932315.2EnsemblENSP00000602374.14Standard

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.
N
Indispensability score
2.07e-7
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