ATP6V1G2-DDX39B

ncRNA

ATP6V1G2-DDX39B readthrough (NMD candidate)

Gene summary

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]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:1B:2

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr6:31,530,219-31,546,608

External References & Databases

Ensembl (ENSG00000254870)

NCBI Gene (100532737)

HGNC:41999

GenCC

ClinVar (ATP6V1G2-DDX39B)

Transcript & Mutation Effects

hg38 • Region Span ~16.4 kb

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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 ATP6V1G2-DDX39B variants in ClinVar

3 Conditions Cataloged

Inborn genetic diseasesTotal: 8

Neurodevelopmental disorderTotal: 5

not providedTotal: 3

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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar		2 clinvar	3
Total	0	0	1	0	2	3

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000376185.5	Ensembl	ENSP00000365356.1	3	Standard
ENST00000480131.1	Ensembl	ENSP00000420191.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proton transmembrane transport

Molecular Function

proton-exporting ATPase activity, phosphorylative mechanism
ATPase activity, coupled to transmembrane movement of substances

Cellular Component

vacuolar proton-transporting V-type ATPase complex

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.: N
Indispensability score: 0.114