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 | 722 | 135 | 581 |
| Samples | 636 | 130 | 500 |
| Peptides | 516 | 81 | 451 |
Function
TCHHL1 · Trichohyalin like 1
This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000368806 | Q5QJ38 | 722 | 516 |
Gene Properties
Recurrent Mutations
All 516 amino-acid changes on canonical ENST00000368806 · 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 TCHHL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TCHHL1 – 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 |
|---|---|---|
| Melanoma | 19/210 9% | 165/1899 9% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Chordoma | 0/7 0% | 1/13 8% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 19/612 3% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 41/1390 3% |
| Other Solid Cancers | 4/94 4% | 39/1515 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Squamous Cell Lung Carcinoma | 11/57 19% | 11/810 1% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Germ Cell Tumour | 2/25 8% | 2/169 1% |
| Bladder Carcinoma | 3/58 5% | 15/956 2% |
| Colorectal Carcinoma | 11/143 8% | 41/3239 1% |
| Other Sarcomas | 2/69 3% | 9/699 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Gastric Carcinoma | 4/74 5% | 22/1809 1% |
| Neuroendocrine Tumour | 7/154 5% | 2/577 0% |
| Biliary Tract Carcinoma | 0/54 0% | 11/950 1% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Hepatocellular Carcinoma | 1/46 2% | 17/2210 1% |
| Breast Carcinoma | 3/144 2% | 24/3264 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Glioma | 0/52 0% | 15/2127 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Ovarian Carcinoma | 1/109 1% | 6/998 1% |
| Prostate Carcinoma | 2/13 15% | 11/2105 1% |
| Neuroblastoma | 2/87 2% | 6/1331 0% |
Mutation Distribution
Where TCHHL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in TCHHL1 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 5 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 722 mutations in TCHHL1
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 |
|---|