FRMPD3

FERM and PDZ domain containing 3 Q5JV73 FRPD3_HUMAN
Protein Coding Chr X Xq22.3 Swiss-Prot reviewed Entrez 84443
Mutations
156
CL 106 · Tissue 38
Samples
144
CL 98 · Tissue 38
Peptides
134
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
Mutations15610638
Samples1449838
Peptides1349628

Function

FRMPD3 · FERM and PDZ domain containing 3

This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017].

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
ENST00000683843 Q5JV73 111 102
ENST00000276185 Q5JV73 45 32

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq22.3
Entrez ID

Recurrent Mutations

All 102 amino-acid changes on canonical ENST00000683843 · 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 FRMPD3 · 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 FRMPD3 – 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
2/40 5%
0/0 0%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Endometrial Carcinoma
9/42 21%
3/612 0%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Neuroendocrine Tumour
7/154 5%
0/577 0%
Osteosarcoma
2/45 4%
0/166 0%
Burkitts Lymphoma
2/32 6%
0/196 0%
Plasma Cell Myeloma
3/44 7%
0/305 0%
Colorectal Carcinoma
15/143 10%
6/3239 0%
Ovarian Carcinoma
5/109 5%
1/998 0%
Non-Small Cell Lung Carcinoma
6/304 2%
3/1390 0%
Melanoma
6/210 3%
5/1899 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Gastric Carcinoma
0/74 0%
8/1809 0%
Other Solid Cancers
2/94 2%
4/1515 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Biliary Tract Carcinoma
1/54 2%
2/950 0%
Other Sarcomas
1/69 1%
1/699 0%
Cervical Carcinoma
1/35 3%
0/422 0%
Bladder Carcinoma
1/58 2%
1/956 0%
Glioma
2/52 4%
2/2127 0%
Breast Carcinoma
5/144 3%
0/3264 0%
Esophageal Squamous Cell Carcinoma
4/51 8%
0/2550 0%
Neuroblastoma
2/87 2%
0/1331 0%
Small Cell Lung Carcinoma
1/9 11%
0/752 0%
Squamous Cell Lung Carcinoma
1/57 2%
0/810 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
2/2534 0%

Mutation Distribution

Where FRMPD3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FRMPD3 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 156 mutations in FRMPD3

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