ATP5F1D

ATP synthase F1 subunit delta P30049 ATPD_HUMAN
Protein Coding Chr 19 19p13.3 Swiss-Prot reviewed Entrez 513
Mutations
125
CL 26 · Tissue 93
Samples
46
CL 13 · Tissue 31
Peptides
34
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
Mutations1252693
Samples461331
Peptides34925

Function

ATP5F1D · ATP synthase F1 subunit delta

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008].

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
ENST00000215375 P30049 47 34
ENST00000395633 P30049 39 29
ENST00000591660 P30049 39 29

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.3
Entrez ID
Aliases
ATP5DMC5DN5

Recurrent Mutations

All 34 amino-acid changes on canonical ENST00000215375 · 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 ATP5F1D · 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 ATP5F1D – 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%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Colorectal Carcinoma
0/143 0%
9/3239 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Other Sarcomas
1/69 1%
1/699 0%
Melanoma
1/210 0%
4/1899 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Non-Cancerous
1/104 1%
1/830 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Endometrial Carcinoma
0/42 0%
1/612 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Kidney Carcinoma
1/85 1%
1/1862 0%
Bladder Carcinoma
0/58 0%
1/956 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
1/2534 0%
Neuroblastoma
1/87 1%
0/1331 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
0/2550 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

Where ATP5F1D is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ATP5F1D 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 125 mutations in ATP5F1D

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