BPIFA2

BPI fold containing family A member 2 Q96DR5 BPIA2_HUMAN
Protein Coding Chr 20 20q11.21 Swiss-Prot reviewed Entrez 140683
Mutations
261
CL 30 · Tissue 228
Samples
131
CL 21 · Tissue 107
Peptides
110
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
Mutations26130228
Samples13121107
Peptides1101595

Function

BPIFA2 · BPI fold containing family A member 2

This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].

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
ENST00000354932 Q96DR5 136 109
ENST00000253362 Q96DR5 125 104

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q11.21
Entrez ID
Aliases
C20orf70PSPSPLUNC2bA49G10.1

Recurrent Mutations

All 109 amino-acid changes on canonical ENST00000354932 · 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 BPIFA2 · 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 BPIFA2 – 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
Endometrial Carcinoma
5/42 12%
7/612 1%
Melanoma
1/210 0%
18/1899 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Colorectal Carcinoma
2/143 1%
18/3239 1%
Gastric Carcinoma
0/74 0%
11/1809 1%
Ovarian Carcinoma
1/109 1%
5/998 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Osteosarcoma
0/45 0%
1/166 1%
Squamous Cell Lung Carcinoma
2/57 4%
2/810 0%
Mesothelioma
1/62 2%
0/165 0%
Neuroendocrine Tumour
1/154 1%
2/577 0%
Non-Small Cell Lung Carcinoma
0/304 0%
7/1390 0%
Other Sarcomas
1/69 1%
2/699 0%
Other Solid Cancers
0/94 0%
6/1515 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Pancreatic Carcinoma
0/89 0%
4/1611 0%
Hepatocellular Carcinoma
1/46 2%
4/2210 0%
Medulloblastoma
0/0 0%
1/450 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Esophageal Carcinoma
1/23 4%
0/769 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Non-Cancerous
0/104 0%
1/830 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Glioma
0/52 0%
2/2127 0%
Neuroblastoma
0/87 0%
1/1331 0%
B-Lymphoblastic Leukemia
2/55 4%
0/2640 0%
Other Blood Cancers
1/61 2%
1/2725 0%

Mutation Distribution

Where BPIFA2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in BPIFA2 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 10 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 261 mutations in BPIFA2

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