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 | 1,730 | 272 | 1,420 |
| Samples | 626 | 163 | 449 |
| Peptides | 518 | 99 | 412 |
Function
TBC1D4 · TBC1 domain family member 4
This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].
Isoforms & Proteins
4 transcripts · 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 |
|---|---|---|---|
| ENST00000377636 | O60343 | 677 | 502 |
| ENST00000431480 | O60343-3 | 543 | 441 |
| ENST00000377625 | O60343-2 | 507 | 412 |
| ENST00000648194 | A0A3B3IRT3* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 502 amino-acid changes on canonical ENST00000377636 · 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 TBC1D4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TBC1D4 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 33/612 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Melanoma | 10/210 5% | 48/1899 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Gastric Carcinoma | 5/74 7% | 43/1809 2% |
| Colorectal Carcinoma | 19/143 13% | 62/3239 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 17/752 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 16/810 2% |
| Neuroendocrine Tumour | 11/154 7% | 4/577 1% |
| Plasma Cell Myeloma | 5/44 11% | 2/305 1% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 21/1390 2% |
| Bladder Carcinoma | 1/58 2% | 16/956 2% |
| Other Solid Cancers | 5/94 5% | 21/1515 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Ovarian Carcinoma | 6/109 6% | 9/998 1% |
| Head and Neck Carcinoma | 4/85 5% | 18/1574 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Cervical Carcinoma | 2/35 6% | 4/422 1% |
| Non-Cancerous | 7/104 7% | 5/830 1% |
| Other Sarcomas | 3/69 4% | 6/699 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Biliary Tract Carcinoma | 2/54 4% | 8/950 1% |
| Hepatocellular Carcinoma | 1/46 2% | 20/2210 1% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 20/2534 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
Mutation Distribution
Where TBC1D4 is mutated · all tissues, split by cell line vs tissue
How many mutations in TBC1D4 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.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 1,730 mutations in TBC1D4
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 |
|---|