PLEKHA5

Pleckstrin homology domain containing A5 Q9HAU0 PKHA5_HUMAN
Protein Coding Chr 12 12p12.3 Swiss-Prot reviewed Entrez 54477
Mutations
1,941
CL 313 · Tissue 1,618
Samples
494
CL 123 · Tissue 368
Peptides
512
unique mutant peptides
Transcripts
7
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
Mutations1,9413131,618
Samples494123368
Peptides512104420

Function

PLEKHA5 · Pleckstrin homology domain containing A5

Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to act upstream of or within reproductive system development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

7 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
ENST00000429027 Q9HAU0-6 569 431
ENST00000538714 Q9HAU0-2 463 367
ENST00000299275 Q9HAU0 445 354
ENST00000424268 Q9HAU0-8 443 357
ENST00000540972 Q9HAU0-7 16 15
ENST00000539256 F6VRM0* 4 4
ENST00000706615 A0A9L9PX43* 1 1

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p12.3
Entrez ID
Aliases
PEPP-2PEPP2

Recurrent Mutations

All 431 amino-acid changes on canonical ENST00000429027 · 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 PLEKHA5 · 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 PLEKHA5 – 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
5/98 5%
0/0 0%
Endometrial Carcinoma
6/42 14%
22/612 4%
Squamous Cell Lung Carcinoma
5/57 9%
18/810 2%
Osteosarcoma
5/45 11%
0/166 0%
Melanoma
3/210 1%
43/1899 2%
Bladder Carcinoma
2/58 3%
19/956 2%
Non-Small Cell Lung Carcinoma
19/304 6%
14/1390 1%
Cervical Carcinoma
4/35 11%
4/422 1%
Germ Cell Tumour
1/25 4%
2/169 1%
Colorectal Carcinoma
10/143 7%
41/3239 1%
Neuroendocrine Tumour
9/154 6%
2/577 0%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Gastric Carcinoma
1/74 1%
24/1809 1%
Hepatocellular Carcinoma
1/46 2%
26/2210 1%
Head and Neck Carcinoma
5/85 6%
14/1574 1%
Chondrosarcoma
0/14 0%
1/75 1%
Other Solid Cancers
3/94 3%
15/1515 1%
Other Sarcomas
2/69 3%
6/699 1%
Ewings Sarcoma
1/63 2%
2/262 1%
Medulloblastoma
0/0 0%
4/450 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Plasma Cell Myeloma
3/44 7%
0/305 0%
Breast Carcinoma
10/144 7%
17/3264 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
18/2550 1%
Ovarian Carcinoma
3/109 3%
5/998 0%
Glioma
1/52 2%
14/2127 1%
Thyroid Gland Carcinoma
0/45 0%
11/1592 1%
Non-Cancerous
0/104 0%
5/830 1%

Mutation Distribution

Where PLEKHA5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PLEKHA5 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 1,941 mutations in PLEKHA5

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