GAGE12F

Gene

G antigen 12F, the group of GAGE family

Gene summary

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

MANE transcript

NM_001098405.3

Inheritance

—

ClinVar variants

—

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chrX:49,551,278-49,568,218

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~16.9 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 GAGE12F variants in ClinVar

1 Conditions Cataloged
Inborn genetic diseasesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000000
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001098405.3RefSeqNP_001091875.14MANE Select
ENST00000440137.2EnsemblENSP00000404123.14MANE Select
ENST00000639028.1EnsemblENSP00000491865.14Standard
ENST00000931564.1EnsemblENSP00000601623.14Standard

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.
N
Indispensability score
0.0000178
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