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 | 203 | 31 | 169 |
| Samples | 67 | 12 | 52 |
| Peptides | 66 | 9 | 58 |
Function
RAB7A · RAB7A, member RAS oncogene family
RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
6 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.
Gene Properties
Recurrent Mutations
All 50 amino-acid changes on canonical ENST00000265062 · 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 RAB7A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RAB7A – 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 | 1/40 2% | 0/0 0% |
| Plasma Cell Myeloma | 0/44 0% | 4/305 1% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Ovarian Carcinoma | 3/109 3% | 2/998 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Colorectal Carcinoma | 2/143 1% | 9/3239 0% |
| Melanoma | 0/210 0% | 7/1899 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 2/1390 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Gastric Carcinoma | 1/74 1% | 2/1809 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 1/2640 0% |
Mutation Distribution
Where RAB7A is mutated · all tissues, split by cell line vs tissue
How many mutations in RAB7A 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 203 mutations in RAB7A
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 |
|---|