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 | 94 | 50 | 0 |
| Samples | 64 | 48 | 0 |
| Peptides | 80 | 41 | 0 |
Function
SKIC2 · SKI2 subunit of superkiller complex
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000375394 | Q15477 | 91 | 80 |
| ENST00000421789 | - | 3 | 1 |
Gene Properties
Recurrent Mutations
All 80 amino-acid changes on canonical ENST00000375394 · 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 SKIC2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SKIC2 – 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% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 1/612 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Colorectal Carcinoma | 13/143 9% | 4/3239 0% |
| Melanoma | 9/210 4% | 1/1899 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 0/1390 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Bladder Carcinoma | 1/58 2% | 1/956 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Non-Cancerous | 1/104 1% | 0/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Breast Carcinoma | 2/144 1% | 1/3264 0% |
| Hepatocellular Carcinoma | 1/46 2% | 1/2210 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Gastric Carcinoma | 0/74 0% | 1/1809 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 0/2534 0% |
Mutation Distribution
Where SKIC2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SKIC2 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.
Mutations
All 94 mutations in SKIC2
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 |
|---|