PSD4

Pleckstrin and Sec7 domain containing 4 Q8NDX1 PSD4_HUMAN
Protein Coding Chr 2 2q14.1 Swiss-Prot reviewed Entrez 23550
Mutations
1,107
CL 217 · Tissue 879
Samples
551
CL 143 · Tissue 403
Peptides
432
unique mutant peptides
Transcripts
2
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
Mutations1,107217879
Samples551143403
Peptides43290345

Function

PSD4 · Pleckstrin and Sec7 domain containing 4

Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction and regulation of catalytic activity. Located in ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

2 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
ENST00000245796 Q8NDX1 606 418
ENST00000441564 Q8NDX1-2 501 369

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q14.1
Entrez ID
Aliases
EFA6BTIC

Recurrent Mutations

All 418 amino-acid changes on canonical ENST00000245796 · 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 PSD4 · 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 PSD4 – 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
6/40 15%
0/0 0%
Melanoma
14/210 7%
118/1899 6%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
7/42 17%
17/612 3%
Hodgkins Lymphoma
4/16 25%
1/122 1%
Glioblastoma
3/98 3%
0/0 0%
Non-Small Cell Lung Carcinoma
20/304 7%
17/1390 1%
Cervical Carcinoma
2/35 6%
7/422 2%
Colorectal Carcinoma
14/143 10%
42/3239 1%
Neuroendocrine Tumour
11/154 7%
1/577 0%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Squamous Cell Lung Carcinoma
5/57 9%
8/810 1%
Gastric Carcinoma
3/74 4%
24/1809 1%
Osteosarcoma
1/45 2%
2/166 1%
Bladder Carcinoma
0/58 0%
14/956 1%
Other Solid Cancers
3/94 3%
19/1515 1%
Ovarian Carcinoma
7/109 6%
8/998 1%
Small Cell Lung Carcinoma
1/9 11%
9/752 1%
Other Sarcomas
5/69 7%
5/699 1%
Chondrosarcoma
0/14 0%
1/75 1%
Glioma
1/52 2%
18/2127 1%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Biliary Tract Carcinoma
2/54 4%
6/950 1%
Non-Cancerous
0/104 0%
7/830 1%
Head and Neck Carcinoma
1/85 1%
11/1574 1%
Hepatocellular Carcinoma
1/46 2%
14/2210 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Prostate Carcinoma
2/13 15%
10/2105 0%
Thyroid Gland Carcinoma
1/45 2%
8/1592 0%

Mutation Distribution

Where PSD4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PSD4 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 1,107 mutations in PSD4

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