FAM47E-STBD1
FAM47E-STBD1 readthrough (Nonsense Mediated Decay candidate)
Gene Information Card
| Symbol | FAM47E-STBD1 |
|---|---|
| Full Name | FAM47E-STBD1 readthrough (NMD candidate) |
| Gene Type | Readthrough (Nonsense Mediated Decay candidate) |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | 100528017 ncbi.nlm.nih.gov/gene/100528017 |
| Ensembl ID | ENSG00000259330 |
| UniProt ID | None (NMD candidate) |
| OMIM ID | None |
| HGNC ID | HGNC:40009 |
| Aliases | FAM47E-STBD1, STBD1-FAM47E |
Description
FAM47E-STBD1 is a readthrough transcript located on chromosome 4q21.1, produced by the natural fusion of the FAM47E and STBD1 genes. This transcript is classified as a nonsense-mediated decay (NMD) candidate, meaning it is likely degraded before translation. No protein product has been experimentally confirmed, and its biological significance remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| No tissue expression data | N/A | N/A |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line expression data | N/A | N/A |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported 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
No protein product has been identified for FAM47E-STBD1. The transcript is predicted to undergo nonsense-mediated decay, and no UniProt entry exists. The individual parent genes, FAM47E and STBD1, encode proteins involved in cellular processes, but the readthrough product is not expected to be translated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM47E-STBD1 Knockout HEK293 Cell Line | EDJ-KQ52513 | Human | 100631383 | Details Get a Quote |
| FAM47E-STBD1 Knockout HeLa Cell Line | EDJ-KQ60978 | Human | 100631383 | Details Get a Quote |
| FAM47E-STBD1 Knockout A-549 Cell Line | EDJ-KQ69453 | Human | 100631383 | Details Get a Quote |
| FAM47E-STBD1 Knockout HCT 116 Cell Line | EDJ-KQ77804 | Human | 100631383 | Details Get a Quote |
