ATP6V1G2-DDX39B

ATP6V1G2-DDX39B readthrough (NMD candidate)

Basic information

Region (hg38): 6:31530218-31546608

Links

ENSG00000254870 ∙ NCBI:100532737 ∙ ∙ HGNC:41999 ∙ ∙ ∙ 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 ATP6V1G2-DDX39B gene.

• Inborn genetic diseases (8 variants)
• Neurodevelopmental disorder (5 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATP6V1G2-DDX39B 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1		2	3
splice region						0
non coding			12		1	13
Total	0	0	13	0	3

Variants in ATP6V1G2-DDX39B

This is a list of pathogenic ClinVar variants found in the ATP6V1G2-DDX39B region.

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

Position	Type	Phenotype	Significance	ClinVar
6-31531137-T-C			Benign (Dec 31, 2019)
6-31532784-T-C		not specified	Uncertain significance (Aug 17, 2022)
6-31536546-A-C		not specified	Uncertain significance (Dec 06, 2023)
6-31536684-C-A		Neurodevelopmental disorder	Uncertain significance (Mar 01, 2023)
6-31536689-G-A			Benign (Jan 09, 2019)
6-31538827-C-T		Neurodevelopmental disorder	Uncertain significance (Mar 01, 2023)
6-31539211-C-T		Neurodevelopmental disorder	Uncertain significance (Mar 01, 2023)
6-31539278-A-G			Benign (Jun 15, 2018)
6-31540352-C-A		not specified	Uncertain significance (Jan 04, 2022)
6-31540401-G-C		Neurodevelopmental disorder	Uncertain significance (Mar 01, 2023)
6-31540424-C-A		Neurodevelopmental disorder	Uncertain significance (Mar 01, 2023)
6-31540441-G-A		not specified	Uncertain significance (Dec 31, 2023)
6-31540442-C-G		not specified	Uncertain significance (Jun 16, 2023)
6-31540468-G-C		not specified	Uncertain significance (Nov 07, 2022)
6-31540469-C-G		not specified	Uncertain significance (Dec 16, 2023)
6-31545428-T-C		not specified	Uncertain significance (Jan 08, 2024)
6-31545466-A-G		not specified	Uncertain significance (Jul 13, 2022)
6-31545492-G-C		not specified	Uncertain significance (Nov 01, 2022)
6-31545509-T-A		not specified	Uncertain significance (Feb 05, 2024)
6-31546134-T-C		not specified	Uncertain significance (May 03, 2023)
6-31546200-C-T		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene ontology

• Biological process: proton transmembrane transport
• Cellular component: vacuolar proton-transporting V-type ATPase complex
• Molecular function: proton-exporting ATPase activity, phosphorylative mechanism;ATPase activity, coupled to transmembrane movement of substances