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 | 363 | 29 | 333 |
| Samples | 132 | 17 | 114 |
| Peptides | 133 | 14 | 120 |
Function
XBP1 · X-box binding protein 1
This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008].
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 94 amino-acid changes on canonical ENST00000344347 · 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 XBP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in XBP1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Plasma Cell Myeloma | 2/44 5% | 2/305 1% |
| Endometrial Carcinoma | 0/42 0% | 7/612 1% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Colorectal Carcinoma | 6/143 4% | 15/3239 0% |
| Melanoma | 0/210 0% | 10/1899 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 9/2534 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 7/2550 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 4/1390 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Breast Carcinoma | 2/144 1% | 5/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 3/2640 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Other Blood Cancers | 0/61 0% | 3/2725 0% |
Mutation Distribution
Where XBP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in XBP1 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 363 mutations in XBP1
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 |
|---|