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 | 685 | 111 | 561 |
| Samples | 253 | 63 | 187 |
| Peptides | 223 | 40 | 184 |
Function
SHOX2 · SHOX homeobox 2
This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009].
Isoforms & Proteins
3 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 185 amino-acid changes on canonical ENST00000483851 · 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 SHOX2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SHOX2 – 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 |
|---|---|---|
| Non-Small Cell Lung Carcinoma | 17/304 6% | 22/1390 2% |
| Endometrial Carcinoma | 3/42 7% | 10/612 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 10/810 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 3/74 4% | 15/1809 1% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Melanoma | 3/210 1% | 15/1899 1% |
| Hepatocellular Carcinoma | 1/46 2% | 18/2210 1% |
| Colorectal Carcinoma | 10/143 7% | 14/3239 0% |
| Biliary Tract Carcinoma | 0/54 0% | 7/950 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 8/1592 0% |
| Other Solid Cancers | 0/94 0% | 10/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Head and Neck Carcinoma | 2/85 2% | 5/1574 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 7/2550 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Breast Carcinoma | 2/144 1% | 7/3264 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Kidney Carcinoma | 1/85 1% | 3/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 3/2534 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 3/2640 0% |
Mutation Distribution
Where SHOX2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SHOX2 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 685 mutations in SHOX2
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 |
|---|