ATP6V1G2-DDX39B

Chr 6

ATP6V1G2-DDX39B readthrough (NMD candidate)

NCBI Gene: 100532737ENSG00000254870

This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

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ClinVar variants
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Pathogenic / LP
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pLI score
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Active trials
Clinical Summary— ATP6V1G2-DDX39B

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATP6V1G2-DDX39B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for ATP6V1G2-DDX39B

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

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External Resources

Links to major genomics databases and tools