GJA9-MYCBP
Chr 1GJA9-MYCBP readthrough
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]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GJA9-MYCBP?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
90 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 2 | 0 | 2 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 78 | 0 | 0 | 78 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 2 | 0 | 0 | 2 |
| Total | 0 | 81 | 4 | 1 | 86 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GJA9-MYCBP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
No open access results found
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools