MUC16

Mucin 16, cell surface associated Q8WXI7 MUC16_HUMAN
Protein Coding Chr 19 19p13.2 Swiss-Prot reviewed Entrez 94025
Mutations
14,680
CL 1,558 · Tissue 12,954
Samples
6,607
CL 701 · Tissue 5,816
Peptides
9,234
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
Mutations14,6801,55812,954
Samples6,6077015,816
Peptides9,2341,2038,209

Function

MUC16 · Mucin 16, cell surface associated

This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017].

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
ENST00000397910 Q8WXI7 14,666 9,222
ENST00000708548 A0AAG2UUZ0* 14 14

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.2
Entrez ID
Aliases
CA125

Recurrent Mutations

All 2500 amino-acid changes on canonical ENST00000397910 · 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 MUC16 · 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 MUC16 – 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
Melanoma
70/210 33%
815/1899 43%
Non-Small Cell Lung Carcinoma
131/304 43%
433/1390 31%
T-Lymphoblastic Leukemia
13/40 32%
0/0 0%
Chronic Myelogenous Leukemia
8/25 32%
0/0 0%
Squamous Cell Lung Carcinoma
23/57 40%
216/810 27%
Other Solid Cancers
13/94 14%
365/1515 24%
Endometrial Carcinoma
8/42 19%
135/612 22%
Gastric Carcinoma
16/74 22%
383/1809 21%
Colorectal Carcinoma
45/143 31%
599/3239 18%
Esophageal Carcinoma
1/23 4%
149/769 19%
Oral Cavity Carcinoma
10/54 19%
0/0 0%
Glioblastoma
18/98 18%
0/0 0%
Small Cell Lung Carcinoma
4/9 44%
130/752 17%
Bladder Carcinoma
10/58 17%
160/956 17%
Hodgkins Lymphoma
3/16 19%
19/122 16%
T-Cell Non-Hodgkins Lymphoma
4/26 15%
0/0 0%
Neuroendocrine Tumour
59/154 38%
50/577 9%
Hepatocellular Carcinoma
13/46 28%
307/2210 14%
Head and Neck Carcinoma
10/85 12%
206/1574 13%
Cervical Carcinoma
4/35 11%
55/422 13%
Esophageal Squamous Cell Carcinoma
15/51 29%
320/2550 13%
Osteosarcoma
9/45 20%
16/166 10%
Acute Myeloid Leukemia
10/90 11%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
14/133 11%
Plasma Cell Myeloma
7/44 16%
29/305 10%
Other Sarcomas
16/69 23%
63/699 9%
Adrenocortical Carcinoma
0/3 0%
11/112 10%
Glioma
2/52 4%
176/2127 8%
Kidney Carcinoma
18/85 21%
139/1862 7%
Unknown
0/10 0%
3/29 10%

Mutation Distribution

Where MUC16 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MUC16 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 14,680 mutations in MUC16

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