CIC

Capicua transcriptional repressor Q96RK0 CIC_HUMAN
Protein Coding Chr 19 19q13.2 Swiss-Prot reviewed Entrez 23152
Mutations
2,837
CL 404 · Tissue 2,367
Samples
971
CL 203 · Tissue 751
Peptides
803
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
Mutations2,8374042,367
Samples971203751
Peptides803180624

Function

CIC · Capicua transcriptional repressor

The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015].

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
ENST00000572681 I3L2J0* 924 663
ENST00000575354 Q96RK0-2 874 621
ENST00000160740 A0A0A0MQR4* 872 619
ENST00000681038 Q96RK0 167 145

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.2
Entrez ID
Aliases
MRD45

Recurrent Mutations

All 621 amino-acid changes on canonical ENST00000575354 · 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 CIC · 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 CIC – 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
7/40 18%
0/0 0%
Chordoma
3/7 43%
0/13 0%
Endometrial Carcinoma
18/42 43%
38/612 6%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
Rhabdomyosarcoma
3/33 9%
10/171 6%
Melanoma
12/210 6%
104/1899 5%
Bladder Carcinoma
2/58 3%
45/956 5%
Glioma
1/52 2%
98/2127 5%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Colorectal Carcinoma
24/143 17%
96/3239 3%
Cervical Carcinoma
0/35 0%
15/422 4%
Glioblastoma
3/98 3%
0/0 0%
Gastric Carcinoma
7/74 9%
50/1809 3%
Non-Small Cell Lung Carcinoma
22/304 7%
26/1390 2%
Unknown
0/10 0%
1/29 3%
Other Solid Cancers
5/94 5%
31/1515 2%
Hodgkins Lymphoma
0/16 0%
3/122 2%
Plasma Cell Myeloma
6/44 14%
1/305 0%
Ovarian Carcinoma
12/109 11%
9/998 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Thyroid Gland Carcinoma
1/45 2%
25/1592 2%
Head and Neck Carcinoma
3/85 4%
23/1574 1%
Germ Cell Tumour
2/25 8%
1/169 1%
Neuroendocrine Tumour
8/154 5%
3/577 1%
Osteosarcoma
2/45 4%
1/166 1%
Biliary Tract Carcinoma
2/54 4%
12/950 1%
Squamous Cell Lung Carcinoma
0/57 0%
12/810 1%
Esophageal Squamous Cell Carcinoma
5/51 10%
30/2550 1%
Ewings Sarcoma
3/63 5%
1/262 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in CIC 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 2,837 mutations in CIC

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