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 | 171 | 102 | 0 |
| Samples | 109 | 91 | 0 |
| Peptides | 152 | 85 | 0 |
Function
BLTP2 · Bridge-like lipid transfer protein family member 2
This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017].
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 |
|---|---|---|---|
| ENST00000528896 | Q14667 | 171 | 152 |
Gene Properties
Recurrent Mutations
All 152 amino-acid changes on canonical ENST00000528896 · 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 BLTP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BLTP2 – 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 | 2/40 5% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Plasma Cell Myeloma | 4/44 9% | 3/305 1% |
| Endometrial Carcinoma | 6/42 14% | 1/612 0% |
| Melanoma | 11/210 5% | 2/1899 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Colorectal Carcinoma | 13/143 9% | 2/3239 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Biliary Tract Carcinoma | 4/54 7% | 0/950 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Ovarian Carcinoma | 3/109 3% | 1/998 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Pancreatic Carcinoma | 5/89 6% | 0/1611 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Gastric Carcinoma | 3/74 4% | 1/1809 0% |
| Breast Carcinoma | 6/144 4% | 1/3264 0% |
| B-Lymphoblastic Leukemia | 5/55 9% | 0/2640 0% |
| Thyroid Gland Carcinoma | 3/45 7% | 0/1592 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 1/1390 0% |
| Head and Neck Carcinoma | 2/85 2% | 1/1574 0% |
| Esophageal Carcinoma | 1/23 4% | 0/769 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 0/2534 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 0/2550 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Other Solid Cancers | 1/94 1% | 0/1515 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
Mutation Distribution
Where BLTP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in BLTP2 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 171 mutations in BLTP2
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 |
|---|