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 | 273 | 29 | 241 |
| Samples | 149 | 21 | 126 |
| Peptides | 127 | 13 | 114 |
Function
ITGB1BP2 · Integrin subunit beta 1 binding protein 2
This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integrin subunit and is thought to act as a chaperone protein. Studies in the mouse ortholog of this gene indicate that absence of this gene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing results in multiple transcript variants encoding different isoforms, including an isoform that lacks several domains, including one of the CHORD domains. [provided by RefSeq, May 2017].
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.
Gene Properties
Recurrent Mutations
All 123 amino-acid changes on canonical ENST00000373829 · 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 ITGB1BP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ITGB1BP2 – 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% |
| Endometrial Carcinoma | 5/42 12% | 10/612 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Melanoma | 0/210 0% | 18/1899 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 10/1592 1% |
| Other Solid Cancers | 1/94 1% | 7/1515 0% |
| Gastric Carcinoma | 0/74 0% | 9/1809 0% |
| Head and Neck Carcinoma | 1/85 1% | 7/1574 0% |
| Colorectal Carcinoma | 2/143 1% | 14/3239 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 8/1390 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 8/2550 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Breast Carcinoma | 2/144 1% | 5/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Other Blood Cancers | 2/61 3% | 1/2725 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
Mutation Distribution
Where ITGB1BP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ITGB1BP2 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 273 mutations in ITGB1BP2
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 |
|---|