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 | 749 | 97 | 636 |
| Samples | 379 | 65 | 304 |
| Peptides | 284 | 35 | 251 |
Function
TBL1XR1 · TBL1X/Y related 1
This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016].
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 284 amino-acid changes on canonical ENST00000457928 · 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 TBL1XR1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TBL1XR1 – 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% |
| Hodgkins Lymphoma | 2/16 12% | 4/122 3% |
| Endometrial Carcinoma | 3/42 7% | 19/612 3% |
| Cervical Carcinoma | 0/35 0% | 8/422 2% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 41/2534 2% |
| Colorectal Carcinoma | 15/143 10% | 33/3239 1% |
| Bladder Carcinoma | 1/58 2% | 13/956 1% |
| Mesothelioma | 1/62 2% | 2/165 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 14/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Gastric Carcinoma | 1/74 1% | 16/1809 1% |
| Hepatocellular Carcinoma | 1/46 2% | 19/2210 1% |
| Melanoma | 2/210 1% | 16/1899 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Other Blood Cancers | 2/61 3% | 16/2725 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 16/2550 1% |
| Breast Carcinoma | 4/144 3% | 15/3264 0% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Glioma | 2/52 4% | 10/2127 0% |
| Head and Neck Carcinoma | 2/85 2% | 7/1574 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| B-Lymphoblastic Leukemia | 5/55 9% | 5/2640 0% |
Mutation Distribution
Where TBL1XR1 is mutated · all tissues, split by cell line vs tissue
How many mutations in TBL1XR1 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 749 mutations in TBL1XR1
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 |
|---|