ABTB3

Ankyrin repeat and BTB domain containing 3 A6QL63 ABTB3_HUMAN
Protein Coding Chr 12 12q23.3 Swiss-Prot reviewed Entrez 121551
Mutations
128
CL 102 · Tissue 0
Samples
101
CL 93 · Tissue 0
Peptides
110
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
Mutations1281020
Samples101930
Peptides110840

Function

ABTB3 · Ankyrin repeat and BTB domain containing 3

Predicted to enable protein heterodimerization activity. Predicted to be involved in SMAD protein signal transduction. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000280758 A6QL63 126 110
ENST00000357167 A6QL63-5 1 1
ENST00000490090 A6QL63-3 1 1

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q23.3
Entrez ID
Aliases
ABTB2BBTBD11

Recurrent Mutations

All 110 amino-acid changes on canonical ENST00000280758 · 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 ABTB3 · 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 ABTB3 – 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%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Endometrial Carcinoma
8/42 19%
1/612 0%
Osteosarcoma
2/45 4%
0/166 0%
Mesothelioma
2/62 3%
0/165 0%
Non-Small Cell Lung Carcinoma
13/304 4%
1/1390 0%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Melanoma
8/210 4%
2/1899 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Colorectal Carcinoma
9/143 6%
1/3239 0%
Squamous Cell Lung Carcinoma
2/57 4%
0/810 0%
Non-Cancerous
2/104 2%
0/830 0%
Biliary Tract Carcinoma
2/54 4%
0/950 0%
B-Lymphoblastic Leukemia
5/55 9%
0/2640 0%
Breast Carcinoma
6/144 4%
0/3264 0%
Ovarian Carcinoma
2/109 2%
0/998 0%
Gastric Carcinoma
2/74 3%
1/1809 0%
Other Blood Cancers
4/61 7%
0/2725 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Other Sarcomas
1/69 1%
0/699 0%
Thyroid Gland Carcinoma
2/45 4%
0/1592 0%
Head and Neck Carcinoma
2/85 2%
0/1574 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
0/2550 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
0/2534 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Hepatocellular Carcinoma
2/46 4%
0/2210 0%
Neuroblastoma
1/87 1%
0/1331 0%

Mutation Distribution

Where ABTB3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ABTB3 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 128 mutations in ABTB3

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