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 | 1,454 | 154 | 1,290 |
| Samples | 699 | 103 | 591 |
| Peptides | 463 | 61 | 427 |
Function
SIM1 · SIM bHLH transcription factor 1
SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [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.
Gene Properties
Recurrent Mutations
All 463 amino-acid changes on canonical ENST00000369208 · 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 SIM1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SIM1 – 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 | 6/40 15% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 35/612 6% |
| Melanoma | 11/210 5% | 88/1899 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 22/810 3% |
| Other Solid Cancers | 2/94 2% | 50/1515 3% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 45/1390 3% |
| Colorectal Carcinoma | 18/143 13% | 77/3239 2% |
| Gastric Carcinoma | 4/74 5% | 44/1809 2% |
| Head and Neck Carcinoma | 2/85 2% | 27/1574 2% |
| Bladder Carcinoma | 0/58 0% | 17/956 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Neuroendocrine Tumour | 3/154 2% | 7/577 1% |
| Non-Cancerous | 1/104 1% | 11/830 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Glioma | 2/52 4% | 21/2127 1% |
| Other Sarcomas | 4/69 6% | 4/699 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Biliary Tract Carcinoma | 0/54 0% | 10/950 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Ovarian Carcinoma | 3/109 3% | 7/998 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 20/2550 1% |
| Hepatocellular Carcinoma | 0/46 0% | 18/2210 1% |
| Breast Carcinoma | 3/144 2% | 15/3264 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
Mutation Distribution
Where SIM1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SIM1 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 23 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 1,454 mutations in SIM1
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 |
|---|