CEP83

Centrosomal protein 83 Q9Y592 CEP83_HUMAN
Protein Coding Chr 12 12q22 Swiss-Prot reviewed Entrez 51134
Mutations
682
CL 102 · Tissue 576
Samples
266
CL 53 · Tissue 210
Peptides
234
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
Mutations682102576
Samples26653210
Peptides23437198

Function

CEP83 · Centrosomal protein 83

The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016].

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
ENST00000397809 Q9Y592 292 229
ENST00000339839 Q9Y592 252 207
ENST00000547575 F8VYN8* 138 115

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q22
Entrez ID
Aliases
CCDC41NPHP18NY-REN-58

Recurrent Mutations

All 229 amino-acid changes on canonical ENST00000397809 · 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 CEP83 · 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 CEP83 – 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-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
Acute Myeloid Leukemia
5/90 6%
0/0 0%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
5/42 12%
16/612 3%
Colorectal Carcinoma
7/143 5%
39/3239 1%
Bladder Carcinoma
3/58 5%
10/956 1%
Melanoma
1/210 0%
24/1899 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
2/304 1%
15/1390 1%
Medulloblastoma
0/0 0%
4/450 1%
Mesothelioma
2/62 3%
0/165 0%
Burkitts Lymphoma
0/32 0%
2/196 1%
Other Solid Cancers
3/94 3%
10/1515 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Other Sarcomas
1/69 1%
5/699 1%
Gastric Carcinoma
0/74 0%
12/1809 1%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Hepatocellular Carcinoma
3/46 7%
9/2210 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Glioma
2/52 4%
8/2127 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Breast Carcinoma
5/144 3%
8/3264 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Ovarian Carcinoma
0/109 0%
3/998 0%
Kidney Carcinoma
0/85 0%
5/1862 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
6/2534 0%

Mutation Distribution

Where CEP83 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CEP83 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 682 mutations in CEP83

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