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 | 1,213 | 236 | 967 |
| Samples | 1,036 | 211 | 815 |
| Peptides | 823 | 143 | 719 |
Function
COL19A1 · Collagen type XIX alpha 1 chain
This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [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 |
|---|---|---|---|
| ENST00000620364 | Q14993 | 1,184 | 810 |
| ENST00000478620 | A0A087WVJ7* | 29 | 24 |
Gene Properties
Recurrent Mutations
All 811 amino-acid changes on canonical ENST00000620364 · 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 COL19A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL19A1 – 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 | 8/40 20% | 0/0 0% |
| Melanoma | 19/210 9% | 156/1899 8% |
| Endometrial Carcinoma | 10/42 24% | 37/612 6% |
| Non-Small Cell Lung Carcinoma | 29/304 10% | 80/1390 6% |
| Other Solid Cancers | 14/94 15% | 87/1515 6% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 44/810 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 13/422 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 18/752 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Other Sarcomas | 10/69 14% | 8/699 1% |
| Neuroendocrine Tumour | 14/154 9% | 3/577 1% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Colorectal Carcinoma | 14/143 10% | 62/3239 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Gastric Carcinoma | 10/74 14% | 28/1809 2% |
| Head and Neck Carcinoma | 5/85 6% | 27/1574 2% |
| Osteosarcoma | 3/45 7% | 1/166 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 42/2550 2% |
| Bladder Carcinoma | 2/58 3% | 15/956 2% |
| Hepatocellular Carcinoma | 0/46 0% | 35/2210 2% |
| Ovarian Carcinoma | 5/109 5% | 12/998 1% |
| Esophageal Carcinoma | 0/23 0% | 12/769 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Biliary Tract Carcinoma | 0/54 0% | 12/950 1% |
| Plasma Cell Myeloma | 0/44 0% | 4/305 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Breast Carcinoma | 13/144 9% | 21/3264 1% |
Mutation Distribution
Where COL19A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL19A1 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 1,213 mutations in COL19A1
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 |
|---|