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 | 369 | 62 | 305 |
| Samples | 163 | 33 | 128 |
| Peptides | 138 | 33 | 109 |
Function
CSH1 · Chorionic somatomammotropin hormone 1
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000329882 | A6NFB4* | 121 | 88 |
| ENST00000316193 | P0DML2 | 105 | 69 |
| ENST00000610991 | A0A087WUG6* | 73 | 49 |
| ENST00000453363 | B1A4H2* | 70 | 45 |
Gene Properties
Recurrent Mutations
All 69 amino-acid changes on canonical ENST00000316193 · 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 CSH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CSH1 – 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% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 11/810 1% |
| Endometrial Carcinoma | 0/42 0% | 6/612 1% |
| Neuroendocrine Tumour | 6/154 4% | 0/577 0% |
| Melanoma | 0/210 0% | 17/1899 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 6/1390 0% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Colorectal Carcinoma | 5/143 4% | 14/3239 0% |
| Gastric Carcinoma | 2/74 3% | 8/1809 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Pancreatic Carcinoma | 1/89 1% | 3/1611 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Breast Carcinoma | 1/144 1% | 6/3264 0% |
| Other Blood Cancers | 0/61 0% | 5/2725 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
Mutation Distribution
Where CSH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CSH1 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 2 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 369 mutations in CSH1
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 |
|---|