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 | 4,707 | 349 | 4,308 |
| Samples | 277 | 39 | 230 |
| Peptides | 310 | 34 | 276 |
Function
ARHGEF9 · Cdc42 guanine nucleotide exchange factor 9
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
Isoforms & Proteins
22 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 |
|---|---|---|---|
| ENST00000253401 | O43307 | 270 | 219 |
| ENST00000635729 | A0A1B0GWI5* | 252 | 208 |
| ENST00000374870 | A0A0A6YYF8* | 251 | 207 |
| ENST00000374872 | B1AMR3* | 237 | 197 |
| ENST00000374878 | B1AMR4* | 237 | 196 |
| ENST00000624210 | B1AMR3* | 237 | 197 |
| ENST00000635967 | B1AMR3* | 237 | 197 |
| ENST00000636048 | B1AMR3* | 237 | 197 |
| ENST00000636392 | B1AMR3* | 237 | 197 |
| ENST00000637178 | B1AMR3* | 237 | 197 |
| ENST00000637417 | B1AMR3* | 237 | 197 |
| ENST00000637520 | B1AMR3* | 237 | 197 |
| ENST00000637557 | B1AMR3* | 237 | 197 |
| ENST00000638021 | A0A1B0GV84* | 236 | 196 |
| ENST00000437457 | A0A0A6YYB3* | 226 | 187 |
| ENST00000623517 | O43307-2 | 225 | 185 |
| ENST00000636926 | A0A1B0GVV2* | 224 | 185 |
| ENST00000637040 | A0A1B0GVC4* | 213 | 175 |
| ENST00000636276 | A0A1B0GV82* | 210 | 175 |
| ENST00000624843 | O43307-3 | 193 | 160 |
| ENST00000671741 | A0A5F9ZHY9* | 25 | 22 |
| ENST00000637723 | B1AMR3* | 12 | 11 |
Gene Properties
Recurrent Mutations
All 219 amino-acid changes on canonical ENST00000253401 · 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 ARHGEF9 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ARHGEF9 – 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% |
| Endometrial Carcinoma | 2/42 5% | 20/612 3% |
| Cervical Carcinoma | 2/35 6% | 8/422 2% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 15/1390 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 9/752 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 11/810 1% |
| Colorectal Carcinoma | 3/143 2% | 36/3239 1% |
| Melanoma | 5/210 2% | 18/1899 1% |
| Ovarian Carcinoma | 1/109 1% | 7/998 1% |
| Gastric Carcinoma | 1/74 1% | 11/1809 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Breast Carcinoma | 4/144 3% | 15/3264 0% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Neuroendocrine Tumour | 1/154 1% | 3/577 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 5/2550 0% |
| Neuroblastoma | 0/87 0% | 3/1331 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 5/2534 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
Mutation Distribution
Where ARHGEF9 is mutated · all tissues, split by cell line vs tissue
How many mutations in ARHGEF9 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 4,707 mutations in ARHGEF9
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 |
|---|