Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 141 | 14 | 125 |
| Samples | 137 | 14 | 121 |
| Peptides | 78 | 13 | 67 |
Function
FAM47E-STBD1 · FAM47E-STBD1 readthrough
This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011].
Isoforms & Proteins
1 transcript · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000515604 | Q6ZV65-1 | 141 | 78 |
Gene Properties
Recurrent Mutations
All 78 amino-acid changes on canonical ENST00000515604 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in FAM47E-STBD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FAM47E-STBD1 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Other Solid Cancers | 0/94 0% | 32/1515 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 11/612 2% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Gastric Carcinoma | 0/74 0% | 10/1809 1% |
| Melanoma | 1/210 0% | 8/1899 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Colorectal Carcinoma | 2/143 1% | 10/3239 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 2/1390 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 6/2550 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Other Blood Cancers | 0/61 0% | 5/2725 0% |
| Prostate Carcinoma | 1/13 8% | 2/2105 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 3/2640 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
Mutation Distribution
Where FAM47E-STBD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in FAM47E-STBD1 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
Mutations
All 141 mutations in FAM47E-STBD1
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|