CCDC51

Coiled-coil domain containing 51 Q96ER9 MITOK_HUMAN
Protein Coding Chr 3 3p21.31 Swiss-Prot reviewed Entrez 79714
Mutations
547
CL 71 · Tissue 468
Samples
169
CL 34 · Tissue 133
Peptides
128
unique mutant peptides
Transcripts
4
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
Mutations54771468
Samples16934133
Peptides12821109

Function

CCDC51 · Coiled-coil domain containing 51

Enables mitochondrial ATP-gated potassium channel activity. Involved in potassium ion transmembrane transport. Is integral component of mitochondrial inner membrane. Part of mitochondrial ATP-gated potassium channel complex. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000395694 Q96ER9 172 126
ENST00000412398 Q96ER9-2 125 93
ENST00000442740 Q96ER9-2 125 93
ENST00000447018 Q96ER9-2 125 93

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p21.31
Entrez ID
Aliases
MITOK

Recurrent Mutations

All 126 amino-acid changes on canonical ENST00000395694 · 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 CCDC51 · 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 CCDC51 – 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
1/40 2%
0/0 0%
Chondrosarcoma
2/14 14%
0/75 0%
Endometrial Carcinoma
3/42 7%
8/612 1%
Colorectal Carcinoma
9/143 6%
29/3239 1%
Melanoma
0/210 0%
21/1899 1%
Burkitts Lymphoma
0/32 0%
2/196 1%
Bladder Carcinoma
0/58 0%
7/956 1%
Gastric Carcinoma
0/74 0%
11/1809 1%
Ovarian Carcinoma
1/109 1%
5/998 0%
Non-Small Cell Lung Carcinoma
4/304 1%
5/1390 0%
Other Solid Cancers
1/94 1%
7/1515 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Glioma
0/52 0%
7/2127 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Breast Carcinoma
7/144 5%
2/3264 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Medulloblastoma
0/0 0%
1/450 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
4/2550 0%
Prostate Carcinoma
2/13 15%
1/2105 0%
Other Sarcomas
0/69 0%
1/699 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Other Blood Cancers
0/61 0%
2/2725 0%
B-Lymphoblastic Leukemia
0/55 0%
2/2640 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

Where CCDC51 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CCDC51 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 547 mutations in CCDC51

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