BLCAP

BLCAP apoptosis inducing factor P62952 BLCAP_HUMAN
Protein Coding Chr 20 20q11.23 Swiss-Prot reviewed Entrez 10904
Mutations
279
CL 33 · Tissue 246
Samples
46
CL 6 · Tissue 40
Peptides
35
unique mutant peptides
Transcripts
6
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
Mutations27933246
Samples46640
Peptides35729

Function

BLCAP · BLCAP apoptosis inducing factor

This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015].

Isoforms & Proteins

6 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
ENST00000373537 P62952 49 35
ENST00000397131 P62952 46 33
ENST00000397134 P62952 46 33
ENST00000397135 P62952 46 33
ENST00000397137 P62952 46 33
ENST00000414542 P62952 46 33

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q11.23
Entrez ID
Aliases
BC10

Recurrent Mutations

All 35 amino-acid changes on canonical ENST00000373537 · 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 BLCAP · 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 BLCAP – 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
Chordoma
1/7 14%
0/13 0%
Endometrial Carcinoma
0/42 0%
2/612 0%
Non-Small Cell Lung Carcinoma
2/304 1%
2/1390 0%
Colorectal Carcinoma
1/143 1%
7/3239 0%
Melanoma
2/210 1%
3/1899 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
B-Lymphoblastic Leukemia
0/55 0%
5/2640 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Other Blood Cancers
0/61 0%
2/2725 0%
Other Solid Cancers
0/94 0%
1/1515 0%
Prostate Carcinoma
0/13 0%
1/2105 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in BLCAP 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 279 mutations in BLCAP

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