ATAD3B

ATPase family AAA domain containing 3B Q5T9A4 ATD3B_HUMAN
Protein Coding Chr 1 1p36.33 Swiss-Prot reviewed Entrez 83858
Mutations
468
CL 101 · Tissue 354
Samples
433
CL 99 · Tissue 325
Peptides
227
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
Mutations468101354
Samples43399325
Peptides22749183

Function

ATAD3B · ATPase family AAA domain containing 3B

The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015].

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
ENST00000673477 Q5T9A4 445 208
ENST00000308647 A0A5K1VW56* 23 20

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p36.33
Entrez ID
Aliases
AAA-TOB3TOB3

Recurrent Mutations

All 210 amino-acid changes on canonical ENST00000673477 · 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 ATAD3B · 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 ATAD3B – 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
4/40 10%
0/0 0%
Burkitts Lymphoma
1/32 3%
11/196 6%
Chordoma
1/7 14%
0/13 0%
Endometrial Carcinoma
8/42 19%
21/612 3%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Rhabdomyosarcoma
2/33 6%
3/171 2%
Non-Small Cell Lung Carcinoma
22/304 7%
18/1390 1%
Glioblastoma
2/98 2%
0/0 0%
Thyroid Gland Carcinoma
1/45 2%
25/1592 2%
Colorectal Carcinoma
9/143 6%
41/3239 1%
Other Solid Cancers
4/94 4%
17/1515 1%
Melanoma
1/210 0%
26/1899 1%
Gastric Carcinoma
2/74 3%
21/1809 1%
Biliary Tract Carcinoma
0/54 0%
12/950 1%
Chondrosarcoma
1/14 7%
0/75 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Cervical Carcinoma
1/35 3%
4/422 1%
Bladder Carcinoma
2/58 3%
9/956 1%
Germ Cell Tumour
1/25 4%
1/169 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
25/2550 1%
Plasma Cell Myeloma
3/44 7%
0/305 0%
Squamous Cell Lung Carcinoma
4/57 7%
3/810 0%
Hepatocellular Carcinoma
0/46 0%
16/2210 1%
Neuroendocrine Tumour
1/154 1%
4/577 1%
Other Sarcomas
2/69 3%
3/699 0%
Esophageal Carcinoma
1/23 4%
4/769 1%
Osteosarcoma
0/45 0%
1/166 1%
Pancreatic Carcinoma
3/89 3%
5/1611 0%

Mutation Distribution

Where ATAD3B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ATAD3B 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 468 mutations in ATAD3B

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