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 | 1,362 | 191 | 1,165 |
| Samples | 386 | 72 | 309 |
| Peptides | 332 | 66 | 272 |
Function
HBS1L · HBS1 like translational GTPase
This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009].
Isoforms & Proteins
8 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 214 amino-acid changes on canonical ENST00000367837 · 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 HBS1L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HBS1L – 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 | 8/40 20% | 0/0 0% |
| Chordoma | 3/7 43% | 0/13 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 1/42 2% | 18/612 3% |
| Colorectal Carcinoma | 12/143 8% | 51/3239 2% |
| Burkitts Lymphoma | 0/32 0% | 4/196 2% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Melanoma | 4/210 2% | 25/1899 1% |
| Non-Cancerous | 0/104 0% | 11/830 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 26/2550 1% |
| Other Sarcomas | 2/69 3% | 6/699 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Neuroendocrine Tumour | 7/154 5% | 0/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 21/2210 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Gastric Carcinoma | 1/74 1% | 16/1809 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Head and Neck Carcinoma | 0/85 0% | 13/1574 1% |
| Other Solid Cancers | 4/94 4% | 8/1515 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Bladder Carcinoma | 1/58 2% | 6/956 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 9/1390 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Pancreatic Carcinoma | 3/89 3% | 5/1611 0% |
| Glioma | 0/52 0% | 10/2127 0% |
Mutation Distribution
Where HBS1L is mutated · all tissues, split by cell line vs tissue
How many mutations in HBS1L 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 1,362 mutations in HBS1L
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 |
|---|