CEP112

Centrosomal protein 112 Q8N8E3 CE112_HUMAN
Protein Coding Chr 17 17q24.1 Swiss-Prot reviewed Entrez 201134
Mutations
1,490
CL 222 · Tissue 1,221
Samples
485
CL 87 · Tissue 385
Peptides
374
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
Mutations1,4902221,221
Samples48587385
Peptides37466316

Function

CEP112 · Centrosomal protein 112

This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].

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
ENST00000535342 Q8N8E3 506 349
ENST00000392769 Q8N8E3 460 333
ENST00000537949 F5GYE8* 437 316
ENST00000317442 Q8N8E3-2 87 68

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q24.1
Entrez ID
Aliases
CCDC46MACOCOSPGF44

Recurrent Mutations

All 349 amino-acid changes on canonical ENST00000535342 · 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 CEP112 · 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 CEP112 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Endometrial Carcinoma
3/42 7%
25/612 4%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Melanoma
8/210 4%
55/1899 3%
Hodgkins Lymphoma
2/16 12%
2/122 2%
Other Solid Cancers
2/94 2%
34/1515 2%
Glioblastoma
2/98 2%
0/0 0%
Colorectal Carcinoma
17/143 12%
46/3239 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Squamous Cell Lung Carcinoma
2/57 4%
14/810 2%
Cervical Carcinoma
1/35 3%
7/422 2%
Non-Small Cell Lung Carcinoma
7/304 2%
21/1390 2%
Bladder Carcinoma
2/58 3%
14/956 1%
Chondrosarcoma
0/14 0%
1/75 1%
Gastric Carcinoma
1/74 1%
20/1809 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Thyroid Gland Carcinoma
0/45 0%
16/1592 1%
Rhabdomyosarcoma
1/33 3%
1/171 1%
Head and Neck Carcinoma
2/85 2%
14/1574 1%
Neuroendocrine Tumour
3/154 2%
4/577 1%
Esophageal Squamous Cell Carcinoma
4/51 8%
17/2550 1%
Breast Carcinoma
7/144 5%
20/3264 1%
Other Sarcomas
3/69 4%
3/699 0%
Pancreatic Carcinoma
1/89 1%
10/1611 1%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Prostate Carcinoma
1/13 8%
10/2105 0%
Mesothelioma
0/62 0%
1/165 1%
Burkitts Lymphoma
1/32 3%
0/196 0%

Mutation Distribution

Where CEP112 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CEP112 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 1,490 mutations in CEP112

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