CIC
Chr 19capicua transcriptional repressor
Also known as: MRD45
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CIC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Efficacy Safety Study of Gene Therapy for Sickle Cell DiseaseSCD Using Autologous CD34+ Cells Transduced ex Vivo, Carrying a Corrected Globin Gene and a Silencing RNA.
RECRUITINGDuloxetine to Prevent Oxaliplatin-Induced Peripheral Neuropathy in Patients With Stage II-III Colorectal Cancer
ACTIVE NOT RECRUITINGFEcal tranSplantation in HidradeniTIs suppuratiVA : a piLot Study
NOT YET RECRUITINGVascular Function, Sarcopenia and Pain in Postmenopausal Osteoporosis
RECRUITINGBreast Cancer WEight Loss Study (BWEL Study)
ACTIVE NOT RECRUITINGRisk of Posterior Staphyloma in Highly Myopic Europeans : From Epidemiology to Anatomy.
RECRUITINGHealth Economic Evaluation of Non-Invasive Prenatal Exclusion Diagnosis
RECRUITINGEfficacy and Safety of Olaparib (MK-7339) in Participants With Previously Treated, Homologous Recombination Repair Mutation (HRRm) or Homologous Recombination Deficiency (HRD) Positive Advanced Cancer (MK-7339-002 / LYNK-002)
ACTIVE NOT RECRUITINGCognitive Training for Cancer Related Cognitive Impairment in Breast Cancer Survivors
ACTIVE NOT RECRUITINGBirdshot Chorioretinopathy : Prospective Follow-up and Immunogenetic Studies(CO-BIRD)
RECRUITINGQuantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies
ACTIVE NOT RECRUITINGModeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
RECRUITINGExternal Resources
Links to major genomics databases and tools