BIVM-ERCC5 readthrough (NMD candidate)
A readthrough transcript spanning the BIVM and ERCC5 genes, involved in DNA repair and potential cancer susceptibility.
Gene Information Card
| Symbol | BIVM-ERCC5 |
|---|---|
| Full Name | BIVM-ERCC5 readthrough (NMD candidate) |
| Gene Type | readthrough transcript (nonsense-mediated decay candidate) |
| Chromosomal Location | 13q33.1 |
| NCBI Gene ID | 100526760 ncbi.nlm.nih.gov/gene/100526760 |
| Ensembl ID | ENSG00000259330 |
| UniProt ID | Not applicable (readthrough transcript) |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:44021 |
| Aliases | BIVM-ERCC5 readthrough |
Description
BIVM-ERCC5 is a readthrough transcript that spans the BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementation group 5) genes on chromosome 13q33.1. This transcript is a candidate for nonsense-mediated decay (NMD), and its biological significance is not fully characterized. ERCC5 encodes a key endonuclease in nucleotide excision repair (NER), and mutations in ERCC5 cause xeroderma pigmentosum complementation group G (XP-G) and Cockayne syndrome. The readthrough transcript may regulate ERCC5 expression or produce a truncated protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Xeroderma pigmentosum group G (XP-G) | Mutations in ERCC5 disrupt NER, leading to UV sensitivity and skin cancer predisposition. The readthrough transcript may modulate ERCC5 expression. | ClinVar, OMIM |
| Cockayne syndrome (CS) | Certain ERCC5 mutations cause CS, characterized by growth failure and neurological abnormalities. The readthrough transcript's role is unclear. | ClinVar, OMIM |
| Cutaneous melanoma | ERCC5 polymorphisms are associated with melanoma risk. The readthrough transcript may influence ERCC5 activity. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Skin | 0.1 | Low |
| Lung | 0.1 | Low |
| Breast | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression; readthrough transcript detected by RNA-seq |
| HeLa | 0.1 | Low expression; NMD candidate |
| A549 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | SNV | <0.01% | Likely loss of start codon; may affect readthrough transcript initiation |
| c.123C>T (p.?) | SNV | <0.01% | Synonymous; uncertain effect on NMD |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations for the readthrough transcript; ERCC5 loss-of-function mutations cause XP-G.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair, inferred from ERCC5 component (GO:0006281) | • nucleotide-excision repair, inferred from ERCC5 component (GO:0006289) |
Pathways
• Nucleotide excision repair (Reactome: R-HSA-5696398)
• DNA damage bypass (Reactome: R-HSA-73893)
Protein Summary
The BIVM-ERCC5 readthrough transcript is predicted to produce a fusion protein of unknown function, likely subject to nonsense-mediated decay. No stable protein product has been experimentally verified. The ERCC5 portion encodes a functional endonuclease involved in nucleotide excision repair, but the readthrough transcript's contribution to cellular repair processes remains unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIVM-ERCC5 Knockout HEK293 Cell Line | EDJ-KQ52506 | Human | 100533467 | Details Get a Quote |
| BIVM-ERCC5 Knockout HeLa Cell Line | EDJ-KQ60971 | Human | 100533467 | Details Get a Quote |
| BIVM-ERCC5 Knockout A-549 Cell Line | EDJ-KQ69446 | Human | 100533467 | Details Get a Quote |
| BIVM-ERCC5 Knockout HCT 116 Cell Line | EDJ-KQ77797 | Human | 100533467 | Details Get a Quote |
