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 | 743 | 95 | 645 |
| Samples | 151 | 27 | 122 |
| Peptides | 145 | 24 | 122 |
Function
HP · Haptoglobin
This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014].
Isoforms & Proteins
7 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 119 amino-acid changes on canonical ENST00000355906 · 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 HP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HP – 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 | 2/40 5% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 11/612 2% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Melanoma | 1/210 0% | 21/1899 1% |
| Ewings Sarcoma | 3/63 5% | 0/262 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Colorectal Carcinoma | 1/143 1% | 20/3239 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 1/810 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 5/1390 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 6/2534 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 5/2550 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 2/2640 0% |
| Prostate Carcinoma | 2/13 15% | 1/2105 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Bladder Carcinoma | 1/58 2% | 0/956 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
Mutation Distribution
Where HP is mutated · all tissues, split by cell line vs tissue
How many mutations in HP 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 743 mutations in HP
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 |
|---|