PCDH15 Protocadherin related 15 Q96QU1 PCD15_HUMAN
Protein Coding Chr 10 10q21.1 Swiss-Prot reviewed Entrez 65217
Mutations
39,038
CL 3,346 · Tissue 34,912
Samples
2,647
CL 378 · Tissue 2,216
Peptides
3,181
unique mutant peptides
Transcripts
19
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations39,0383,34634,912
Samples2,6473782,216
Peptides3,1814732,873

Function

PCDH15 · Protocadherin related 15

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008].

Isoforms & Proteins

19 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
ENST00000320301 Q96QU1 3,353 2,062
ENST00000395445 Q96QU1-4 2,930 1,774
ENST00000361849 A2A3E7* 2,618 1,711
ENST00000373957 A2A3D8* 2,618 1,711
ENST00000395430 A2A3E6* 2,615 1,708
ENST00000395433 A2A3E8* 2,596 1,695
ENST00000437009 E7EM53* 2,531 1,644
ENST00000644397 Q96QU1-7 2,465 1,526
ENST00000616114 Q96QU1-6 2,310 1,498
ENST00000613657 A0A087WZN9* 2,297 1,501
ENST00000373965 A9Z1W1* 2,210 1,445
ENST00000621708 A0A087X1T6* 2,210 1,445
ENST00000617271 A0A087WTR6* 2,025 1,310
ENST00000409834 B7ZBT8* 1,522 981
ENST00000373955 Q96QU1-3 1,350 859
ENST00000395446 A2A3E4* 1,271 845
ENST00000395440 A2A3E5* 874 587
ENST00000395442 A2A3E1* 749 513
ENST00000495484 A0A087WX70* 494 338

Gene Properties

Type
Protein Coding
Chromosome
10
Cytoband
10q21.1
Entrez ID
65217
Aliases
CDHR15DFNB23USH1F

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

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 Distribution

Where PCDH15 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PCDH15 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 48 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 39,038 mutations in PCDH15

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 CDSTypeSourcePeptide