ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 O43307 ARHG9_HUMAN
Protein Coding Chr X Xq11.1 Swiss-Prot reviewed Entrez 23229
Mutations
4,701
CL 269 · Tissue 4,308
Samples
272
CL 35 · Tissue 230
Peptides
304
unique mutant peptides
Transcripts
22
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations4,7012694,308
Samples27235230
Peptides30433276

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)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000253401 O43307 264 213
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

Type
Protein Coding
Chromosome
X
Cytoband
Xq11.1
Entrez ID
23229
Aliases
COLLYBISTINDEE8EIEE8HPEM-2PEM-2PEM2

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

What this lollipop shows
Recurrent Mutations

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 Distribution

Where ARHGEF9 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

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

GTEx Portal ↗
About the expression data
GTEx Expression

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 4,701 mutations in ARHGEF9

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourcePeptide