PLEKHG6

Pleckstrin homology and RhoGEF domain containing G6 Q3KR16 PKHG6_HUMAN
Protein Coding Chr 12 12p13.31 Swiss-Prot reviewed Entrez 55200
Mutations
1,427
CL 161 · Tissue 1,227
Samples
400
CL 67 · Tissue 322
Peptides
302
unique mutant peptides
Transcripts
6
isoforms mutated

Stats by Source

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

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations1,4271611,227
Samples40067322
Peptides30254250

Function

PLEKHG6 · Pleckstrin homology and RhoGEF domain containing G6

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction and centrosome. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

6 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
ENST00000011684 Q3KR16 354 260
ENST00000396988 Q3KR16 349 255
ENST00000449001 Q3KR16-2 328 243
ENST00000536531 F5H731* 227 154
ENST00000304581 Q3KR16-3 129 103
ENST00000684764 Q3KR16 40 37

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p13.31
Entrez ID
Aliases
ARHGEF46MyoGEF

Recurrent Mutations

All 260 amino-acid changes on canonical ENST00000011684 · needle height = samples · drag the mini-map to zoom

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 frequency across cancer types

% of samples with a missense/complex mutation in PLEKHG6 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PLEKHG6 – 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 typeCell linesTissue samples
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Endometrial Carcinoma
5/42 12%
21/612 3%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Melanoma
10/210 5%
51/1899 3%
Other Solid Cancers
5/94 5%
26/1515 2%
Colorectal Carcinoma
12/143 8%
49/3239 2%
Ovarian Carcinoma
7/109 6%
11/998 1%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Bladder Carcinoma
1/58 2%
13/956 1%
Glioma
4/52 8%
20/2127 1%
Non-Small Cell Lung Carcinoma
8/304 3%
10/1390 1%
Gastric Carcinoma
0/74 0%
19/1809 1%
Cervical Carcinoma
1/35 3%
3/422 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Biliary Tract Carcinoma
0/54 0%
8/950 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
20/2550 1%
Neuroendocrine Tumour
3/154 2%
2/577 0%
Other Sarcomas
0/69 0%
5/699 1%
Thyroid Gland Carcinoma
0/45 0%
10/1592 1%
Pancreatic Carcinoma
2/89 2%
7/1611 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Head and Neck Carcinoma
1/85 1%
5/1574 0%
Non-Cancerous
1/104 1%
2/830 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Neuroblastoma
2/87 2%
1/1331 0%

Mutation Distribution

Where PLEKHG6 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PLEKHG6 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 1,427 mutations in PLEKHG6

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 CDSTypeSourceMutant PeptideWild-type Peptide