PMF1-BGLAP readthrough (NMD candidate)
A readthrough transcript between PMF1 and BGLAP, predicted to undergo nonsense-mediated decay (NMD).
Gene Information Card
| Symbol | PMF1-BGLAP |
|---|---|
| Full Name | PMF1-BGLAP readthrough (NMD candidate) |
| Gene Type | readthrough (NMD candidate) |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 100528031 ncbi.nlm.nih.gov/gene/100528031 |
| Ensembl ID | ENSG00000269377 |
| UniProt ID | Not applicable (NMD candidate) |
| OMIM ID | Not listed |
| HGNC ID | HGNC:44287 |
| Aliases | PMF1-BGLAP readthrough |
Description
PMF1-BGLAP is a readthrough transcript that spans the PMF1 and BGLAP genes on chromosome 1q22. This transcript is predicted to undergo nonsense-mediated decay (NMD) and is not expected to produce a functional protein. The readthrough event may represent a natural transcriptional phenomenon or an artifact of RNA sequencing. No disease associations have been established for this specific readthrough product.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not applicable | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| No reliable expression data | N/A | N/A |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No reliable expression data | N/A | N/A |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not applicable
Gain of Function (GOF)
Not applicable
Dominant Negative (DN)
Not applicable
View complete mutation data：
Protein Summary
This readthrough transcript is predicted to undergo nonsense-mediated decay and is not expected to encode a functional protein. No protein product has been characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMF1-BGLAP Knockout HEK293 Cell Line | EDJ-KQ52483 | Human | 100527963 | Details Get a Quote |
| PMF1-BGLAP Knockout HeLa Cell Line | EDJ-KQ60946 | Human | 100527963 | Details Get a Quote |
| PMF1-BGLAP Knockout A-549 Cell Line | EDJ-KQ69421 | Human | 100527963 | Details Get a Quote |
| PMF1-BGLAP Knockout HCT 116 Cell Line | EDJ-KQ77772 | Human | 100527963 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
