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 | 1,085 | 136 | 939 |
| Samples | 281 | 52 | 225 |
| Peptides | 223 | 33 | 193 |
Function
BMPR1B · Bone morphogenetic protein receptor type 1B
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].
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.
Gene Properties
Recurrent Mutations
All 217 amino-acid changes on canonical ENST00000515059 · 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 BMPR1B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BMPR1B – 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 |
|---|---|---|
| Endometrial Carcinoma | 4/42 10% | 12/612 2% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 17/1390 1% |
| Melanoma | 8/210 4% | 24/1899 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Mesothelioma | 0/62 0% | 3/165 2% |
| Colorectal Carcinoma | 9/143 6% | 33/3239 1% |
| Other Solid Cancers | 2/94 2% | 18/1515 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Other Sarcomas | 4/69 6% | 2/699 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 20/2550 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Hepatocellular Carcinoma | 0/46 0% | 14/2210 1% |
| Head and Neck Carcinoma | 3/85 4% | 7/1574 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Pancreatic Carcinoma | 1/89 1% | 7/1611 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Prostate Carcinoma | 2/13 15% | 4/2105 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 5/2534 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 0/144 0% | 7/3264 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
Mutation Distribution
Where BMPR1B is mutated · all tissues, split by cell line vs tissue
How many mutations in BMPR1B 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 1,085 mutations in BMPR1B
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 |
|---|