PALB2

Partner and localizer of BRCA2 Q86YC2 PALB2_HUMAN
Protein Coding Chr 16 16p12.2 Swiss-Prot reviewed Entrez 79728
Mutations
915
CL 152 · Tissue 742
Samples
497
CL 100 · Tissue 382
Peptides
397
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
Mutations915152742
Samples497100382
Peptides39762340

Function

PALB2 · Partner and localizer of BRCA2

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008].

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
ENST00000261584 Q86YC2 527 394
ENST00000568219 H3BN63* 387 294
ENST00000566069 I3L1Z5* 1 1

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16p12.2
Entrez ID
Aliases
BROVCA5FANCNPNCA3

Recurrent Mutations

All 394 amino-acid changes on canonical ENST00000261584 · 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 PALB2 · 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 PALB2 – 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
Chronic Myelogenous Leukemia
3/25 12%
0/0 0%
T-Lymphoblastic Leukemia
4/40 10%
0/0 0%
Endometrial Carcinoma
5/42 12%
22/612 4%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Bladder Carcinoma
2/58 3%
25/956 3%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Melanoma
5/210 2%
39/1899 2%
Squamous Cell Lung Carcinoma
5/57 9%
13/810 2%
Rhabdomyosarcoma
0/33 0%
4/171 2%
Other Solid Cancers
3/94 3%
28/1515 2%
Non-Small Cell Lung Carcinoma
11/304 4%
21/1390 2%
Colorectal Carcinoma
13/143 9%
50/3239 2%
Adrenocortical Carcinoma
0/3 0%
2/112 2%
Germ Cell Tumour
0/25 0%
3/169 2%
Cervical Carcinoma
3/35 9%
4/422 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Ovarian Carcinoma
3/109 3%
10/998 1%
Chondrosarcoma
0/14 0%
1/75 1%
Gastric Carcinoma
1/74 1%
20/1809 1%
Other Sarcomas
3/69 4%
5/699 1%
Breast Carcinoma
3/144 2%
32/3264 1%
Esophageal Carcinoma
0/23 0%
8/769 1%
Neuroendocrine Tumour
3/154 2%
4/577 1%
Ewings Sarcoma
2/63 3%
1/262 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
21/2550 1%
Meningioma
1/3 33%
1/252 0%
Non-Cancerous
2/104 2%
5/830 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Pancreatic Carcinoma
5/89 6%
6/1611 0%

Mutation Distribution

Where PALB2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PALB2 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 915 mutations in PALB2

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