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 | 631 | 138 | 483 |
| Samples | 525 | 118 | 399 |
| Peptides | 374 | 76 | 306 |
Function
IFIH1 · Interferon induced with helicase C domain 1
IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020].
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 369 amino-acid changes on canonical ENST00000649979 · 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 IFIH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in IFIH1 – 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 | 3/40 8% | 0/0 0% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Rhabdomyosarcoma | 2/33 6% | 12/171 7% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 5/42 12% | 13/612 2% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 24/1390 2% |
| Melanoma | 5/210 2% | 44/1899 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 18/810 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 18/143 13% | 51/3239 2% |
| Bladder Carcinoma | 1/58 2% | 17/956 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Other Solid Cancers | 2/94 2% | 24/1515 2% |
| Neuroendocrine Tumour | 7/154 5% | 4/577 1% |
| Esophageal Carcinoma | 3/23 13% | 8/769 1% |
| Gastric Carcinoma | 7/74 9% | 15/1809 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Head and Neck Carcinoma | 3/85 4% | 12/1574 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Glioma | 3/52 6% | 16/2127 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 11/1592 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Ovarian Carcinoma | 0/109 0% | 8/998 1% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 16/2550 1% |
Mutation Distribution
Where IFIH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in IFIH1 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 631 mutations in IFIH1
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 |
|---|