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 | 1,276 | 188 | 1,062 |
| Samples | 423 | 81 | 331 |
| Peptides | 338 | 58 | 280 |
Function
SPECC1L · Sperm antigen with calponin homology and coiled-coil domains 1 like
This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013].
Isoforms & Proteins
3 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 332 amino-acid changes on canonical ENST00000314328 · 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 SPECC1L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPECC1L – 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 | 5/40 12% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 7/42 17% | 22/612 4% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Bladder Carcinoma | 1/58 2% | 20/956 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 19/143 13% | 47/3239 1% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 18/1390 1% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Melanoma | 4/210 2% | 32/1899 2% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Gastric Carcinoma | 3/74 4% | 26/1809 1% |
| Osteosarcoma | 1/45 2% | 2/166 1% |
| Hepatocellular Carcinoma | 0/46 0% | 28/2210 1% |
| Other Solid Cancers | 0/94 0% | 20/1515 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Breast Carcinoma | 1/144 1% | 21/3264 1% |
| Glioma | 0/52 0% | 14/2127 1% |
| Ovarian Carcinoma | 3/109 3% | 4/998 0% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Kidney Carcinoma | 2/85 2% | 7/1862 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Pancreatic Carcinoma | 0/89 0% | 7/1611 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
Mutation Distribution
Where SPECC1L is mutated · all tissues, split by cell line vs tissue
How many mutations in SPECC1L 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 1,276 mutations in SPECC1L
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 |
|---|