PLEKHG1

Pleckstrin homology and RhoGEF domain containing G1 Q9ULL1 PKHG1_HUMAN
Protein Coding Chr 6 6q25.1 Swiss-Prot reviewed Entrez 57480
Mutations
1,383
CL 173 · Tissue 1,190
Samples
634
CL 108 · Tissue 518
Peptides
474
unique mutant peptides
Transcripts
3
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
Mutations1,3831731,190
Samples634108518
Peptides47475403

Function

PLEKHG1 · Pleckstrin homology and RhoGEF domain containing G1

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

Isoforms & Proteins

3 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
ENST00000644968 Q9ULL1 661 450
ENST00000358517 Q9ULL1 654 443
ENST00000696526 Q9ULL1 68 55

Gene Properties

Type
Protein Coding
Chromosome
6
Cytoband
6q25.1
Entrez ID
Aliases
ARHGEF41

Recurrent Mutations

All 450 amino-acid changes on canonical ENST00000644968 · 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 PLEKHG1 · 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 PLEKHG1 – 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
4/42 10%
31/612 5%
Other Solid Cancers
3/94 3%
69/1515 5%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Melanoma
7/210 3%
60/1899 3%
Gastric Carcinoma
2/74 3%
56/1809 3%
Colorectal Carcinoma
16/143 11%
77/3239 2%
Squamous Cell Lung Carcinoma
8/57 14%
11/810 1%
Cervical Carcinoma
2/35 6%
7/422 2%
Non-Small Cell Lung Carcinoma
12/304 4%
21/1390 2%
Mesothelioma
3/62 5%
1/165 1%
Head and Neck Carcinoma
5/85 6%
21/1574 1%
Hodgkins Lymphoma
1/16 6%
1/122 1%
Ovarian Carcinoma
6/109 6%
8/998 1%
Ewings Sarcoma
1/63 2%
3/262 1%
Other Sarcomas
4/69 6%
4/699 1%
Glioblastoma
1/98 1%
0/0 0%
Rhabdomyosarcoma
1/33 3%
1/171 1%
Osteosarcoma
0/45 0%
2/166 1%
Glioma
2/52 4%
18/2127 1%
Bladder Carcinoma
1/58 2%
8/956 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Non-Cancerous
0/104 0%
8/830 1%
Biliary Tract Carcinoma
0/54 0%
8/950 1%
Hepatocellular Carcinoma
3/46 7%
15/2210 1%
Breast Carcinoma
3/144 2%
21/3264 1%
Neuroendocrine Tumour
2/154 1%
3/577 1%
Kidney Carcinoma
1/85 1%
12/1862 1%
Esophageal Squamous Cell Carcinoma
1/51 2%
14/2550 1%

Mutation Distribution

Where PLEKHG1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PLEKHG1 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 1,383 mutations in PLEKHG1

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