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 | 682 | 31 | 650 |
| Samples | 85 | 8 | 76 |
| Peptides | 93 | 7 | 87 |
Function
LITAF · Lipopolysaccharide induced TNF factor
Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014].
Isoforms & Proteins
11 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000622633 | Q99732 | 80 | 58 |
| ENST00000339430 | Q99732 | 75 | 54 |
| ENST00000570904 | Q99732 | 75 | 54 |
| ENST00000571688 | Q99732 | 75 | 54 |
| ENST00000574763 | Q99732 | 75 | 54 |
| ENST00000576036 | Q99732 | 75 | 54 |
| ENST00000413364 | Q99732-3 | 70 | 48 |
| ENST00000571976 | I3L329* | 66 | 46 |
| ENST00000574703 | I3L2T6* | 37 | 31 |
| ENST00000571459 | I3L2E2* | 32 | 29 |
| ENST00000572255 | I3L1H3* | 22 | 20 |
Gene Properties
Recurrent Mutations
All 58 amino-acid changes on canonical ENST00000622633 · 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 LITAF · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in LITAF – 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% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Endometrial Carcinoma | 1/42 2% | 7/612 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Melanoma | 1/210 0% | 8/1899 0% |
| Head and Neck Carcinoma | 2/85 2% | 4/1574 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Colorectal Carcinoma | 0/143 0% | 12/3239 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 4/1592 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 2/1390 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| Gastric Carcinoma | 0/74 0% | 1/1809 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where LITAF is mutated · all tissues, split by cell line vs tissue
How many mutations in LITAF 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 682 mutations in LITAF
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 |
|---|