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GJA9-MYCBP
Chr 1GJA9-MYCBP readthrough
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.
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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools