BCLAF3

BCLAF1 and THRAP3 family member 3 A2AJT9 BCLA3_HUMAN
Protein Coding Chr X Xp22.12 Swiss-Prot reviewed Entrez 256643
Mutations
525
CL 72 · Tissue 444
Samples
261
CL 47 · Tissue 208
Peptides
237
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
Mutations52572444
Samples26147208
Peptides23734201

Function

BCLAF3 · BCLAF1 and THRAP3 family member 3

Predicted to enable DNA binding activity and transcription coregulator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be part of mediator complex. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000379682 A2AJT9 282 226
ENST00000379687 A2AJT9-2 243 207

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xp22.12
Entrez ID
Aliases
CXorf23TOBF1

Recurrent Mutations

All 226 amino-acid changes on canonical ENST00000379682 · 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 BCLAF3 · 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 BCLAF3 – 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%
Endometrial Carcinoma
7/42 17%
23/612 4%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Unknown
0/10 0%
1/29 3%
Hodgkins Lymphoma
1/16 6%
1/122 1%
Melanoma
2/210 1%
23/1899 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Glioblastoma
1/98 1%
0/0 0%
Other Solid Cancers
2/94 2%
13/1515 1%
Squamous Cell Lung Carcinoma
0/57 0%
8/810 1%
Non-Small Cell Lung Carcinoma
5/304 2%
10/1390 1%
Colorectal Carcinoma
4/143 3%
25/3239 1%
Gastric Carcinoma
0/74 0%
14/1809 1%
Bladder Carcinoma
0/58 0%
7/956 1%
Neuroendocrine Tumour
2/154 1%
3/577 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Biliary Tract Carcinoma
0/54 0%
6/950 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Glioma
0/52 0%
11/2127 1%
Hepatocellular Carcinoma
0/46 0%
10/2210 0%
Non-Cancerous
0/104 0%
4/830 0%
Thyroid Gland Carcinoma
3/45 7%
4/1592 0%
Head and Neck Carcinoma
2/85 2%
5/1574 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
10/2550 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Neuroblastoma
4/87 5%
0/1331 0%
Breast Carcinoma
3/144 2%
6/3264 0%
Other Sarcomas
0/69 0%
2/699 0%

Mutation Distribution

Where BCLAF3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in BCLAF3 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.

Mutations

All 525 mutations in BCLAF3

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