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 | 432 | 257 | 0 |
| Samples | 220 | 200 | 0 |
| Peptides | 387 | 216 | 0 |
Function
BLTP1 · Bridge-like lipid transfer protein family member 1
This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000679879 | A0A7P0T938* | 259 | 220 |
| ENST00000264501 | Q2LD37 | 173 | 173 |
Gene Properties
Recurrent Mutations
All 173 amino-acid changes on canonical ENST00000264501 · 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 BLTP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BLTP1 – 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 | 4/40 10% | 0/0 0% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Osteosarcoma | 4/45 9% | 0/166 0% |
| Neuroendocrine Tumour | 11/154 7% | 0/577 0% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Non-Small Cell Lung Carcinoma | 21/304 7% | 3/1390 0% |
| Endometrial Carcinoma | 8/42 19% | 1/612 0% |
| Melanoma | 22/210 10% | 1/1899 0% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Plasma Cell Myeloma | 3/44 7% | 0/305 0% |
| Colorectal Carcinoma | 24/143 17% | 2/3239 0% |
| Ovarian Carcinoma | 7/109 6% | 1/998 0% |
| Gastric Carcinoma | 9/74 12% | 1/1809 0% |
| Bladder Carcinoma | 4/58 7% | 1/956 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Head and Neck Carcinoma | 6/85 7% | 1/1574 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Other Sarcomas | 3/69 4% | 0/699 0% |
| Breast Carcinoma | 11/144 8% | 1/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 9/88 10% | 0/2534 0% |
| Neuroblastoma | 4/87 5% | 0/1331 0% |
| B-Lymphoblastic Leukemia | 7/55 13% | 0/2640 0% |
| Other Solid Cancers | 4/94 4% | 0/1515 0% |
| Non-Cancerous | 2/104 2% | 0/830 0% |
| Biliary Tract Carcinoma | 2/54 4% | 0/950 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Kidney Carcinoma | 2/85 2% | 1/1862 0% |
Mutation Distribution
Where BLTP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in BLTP1 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 432 mutations in BLTP1
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 |
|---|