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 | 269 | 65 | 201 |
| Samples | 252 | 58 | 192 |
| Peptides | 196 | 48 | 152 |
Function
SHH · Sonic hedgehog signaling molecule
This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [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.
Gene Properties
Recurrent Mutations
All 195 amino-acid changes on canonical ENST00000297261 · 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 SHH · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SHH – 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 |
|---|---|---|
| Endometrial Carcinoma | 7/42 17% | 10/612 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Burkitts Lymphoma | 1/32 3% | 3/196 2% |
| Colorectal Carcinoma | 11/143 8% | 33/3239 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 17/1592 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Melanoma | 3/210 1% | 16/1899 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Cervical Carcinoma | 3/35 9% | 1/422 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Other Solid Cancers | 2/94 2% | 10/1515 1% |
| Gastric Carcinoma | 1/74 1% | 13/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Glioma | 2/52 4% | 8/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 6/1390 0% |
| B-Lymphoblastic Leukemia | 5/55 9% | 2/2640 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
Mutation Distribution
Where SHH is mutated · all tissues, split by cell line vs tissue
How many mutations in SHH 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 49 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 269 mutations in SHH
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 |
|---|