PLEKHA4

Pleckstrin homology domain containing A4 Q9H4M7 PKHA4_HUMAN
Protein Coding Chr 19 19q13.33 Swiss-Prot reviewed Entrez 57664
Mutations
958
CL 152 · Tissue 791
Samples
528
CL 107 · Tissue 411
Peptides
416
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
Mutations958152791
Samples528107411
Peptides41681351

Function

PLEKHA4 · Pleckstrin homology domain containing A4

This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017].

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
ENST00000263265 Q9H4M7 574 384
ENST00000355496 Q9H4M7-2 383 267
ENST00000594100 M0R0J1* 1 1

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.33
Entrez ID
Aliases
PEPP1

Recurrent Mutations

All 384 amino-acid changes on canonical ENST00000263265 · 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 PLEKHA4 · 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 PLEKHA4 – 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
5/40 12%
0/0 0%
Glioblastoma
6/98 6%
0/0 0%
Endometrial Carcinoma
7/42 17%
24/612 4%
Melanoma
7/210 3%
75/1899 4%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Other Solid Cancers
3/94 3%
34/1515 2%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Colorectal Carcinoma
11/143 8%
61/3239 2%
Squamous Cell Lung Carcinoma
6/57 11%
12/810 1%
Ewings Sarcoma
4/63 6%
2/262 1%
Cervical Carcinoma
0/35 0%
8/422 2%
Non-Small Cell Lung Carcinoma
20/304 7%
9/1390 1%
Bladder Carcinoma
1/58 2%
13/956 1%
Gastric Carcinoma
1/74 1%
25/1809 1%
Neuroendocrine Tumour
5/154 3%
5/577 1%
Thyroid Gland Carcinoma
0/45 0%
19/1592 1%
Plasma Cell Myeloma
2/44 5%
2/305 1%
Non-Cancerous
0/104 0%
9/830 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
21/2550 1%
Head and Neck Carcinoma
3/85 4%
12/1574 1%
Esophageal Carcinoma
0/23 0%
7/769 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Biliary Tract Carcinoma
2/54 4%
5/950 1%
Other Sarcomas
4/69 6%
1/699 0%
Ovarian Carcinoma
3/109 3%
3/998 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Hepatocellular Carcinoma
0/46 0%
11/2210 0%
Pancreatic Carcinoma
1/89 1%
7/1611 0%
Glioma
0/52 0%
10/2127 0%

Mutation Distribution

Where PLEKHA4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PLEKHA4 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 958 mutations in PLEKHA4

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