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 | 1,401 | 270 | 1,089 |
| Samples | 1,163 | 238 | 899 |
| Peptides | 985 | 160 | 826 |
Function
HTT · Huntingtin
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016].
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 |
|---|---|---|---|
| ENST00000355072 | P42858 | 1,400 | 985 |
| ENST00000680239 | A0A7P0TAN5* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 985 amino-acid changes on canonical ENST00000355072 · 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 HTT · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HTT – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 6/25 24% | 0/0 0% |
| T-Lymphoblastic Leukemia | 7/40 18% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 58/612 9% |
| Melanoma | 19/210 9% | 117/1899 6% |
| Rhabdomyosarcoma | 1/33 3% | 10/171 6% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| Colorectal Carcinoma | 31/143 22% | 131/3239 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 31/304 10% | 43/1390 3% |
| Hodgkins Lymphoma | 1/16 6% | 5/122 4% |
| Gastric Carcinoma | 7/74 9% | 71/1809 4% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 24/810 3% |
| Other Solid Cancers | 7/94 7% | 54/1515 4% |
| Cervical Carcinoma | 0/35 0% | 17/422 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Bladder Carcinoma | 3/58 5% | 27/956 3% |
| Neuroendocrine Tumour | 11/154 7% | 9/577 2% |
| Hepatocellular Carcinoma | 3/46 7% | 55/2210 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 17/752 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Other Sarcomas | 4/69 6% | 12/699 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Plasma Cell Myeloma | 6/44 14% | 1/305 0% |
| Non-Cancerous | 3/104 3% | 15/830 2% |
| Ewings Sarcoma | 0/63 0% | 6/262 2% |
| Biliary Tract Carcinoma | 2/54 4% | 16/950 2% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
Mutation Distribution
Where HTT is mutated · all tissues, split by cell line vs tissue
How many mutations in HTT 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 1,401 mutations in HTT
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 |
|---|