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GJA9-MYCBP

Chr 1

GJA9-MYCBP readthrough

NCBI Gene: 100527950

This locus represents a read-through transcript between the GJA9 and MYCBP genes that does not produce a functional protein product, as the resulting transcripts either undergo nonsense-mediated decay or lack significant open reading frames. No human disease has been associated with mutations in this read-through transcript.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring GJA9 (gap junction protein, alpha 9, 59kDa) and MYCBP (c-myc binding protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants. These variants are either candidates for nonsense-mediated mRNA decay (NMD) and/or they lack a significant open reading frame, thus they are unlikely to produce protein products. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Clinical Summary— GJA9-MYCBP

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ClinVar Variants

78 VUS of 86 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/GJA9-MYCBP?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

VUS78

Likely Benign2

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	78	0	78
Likely Benign	1	1	2
Benign	2	0	2
Total	81	1	82

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

3 pathogenic / likely-pathogenic (of 4) ClinVar copy-number / structural variants overlap GJA9-MYCBP — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →