CIC
Chr 19ADcapicua transcriptional repressor
Also known as: MRD45
This protein functions as a transcriptional repressor that regulates central nervous system development, working in concert with ATXN1 and ATXN1L in brain development. Mutations cause autosomal dominant intellectual developmental disorder. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.18), indicating that heterozygous loss is not well-tolerated in the general population.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
E-Mindfulness Approaches for Living After Breast Cancer
RECRUITINGAdding the Immunotherapy Drug Cemiplimab to Usual Treatment for People With Advanced Non-Small Cell Lung Cancer Who Had Previous Treatment With Platinum Chemotherapy and Immunotherapy (An Expanded Lung-MAP Treatment Trial)
RECRUITINGStudy of Populations at Risk of Developing Chronic Hepatitis Linked to Chronic Enteric Virus Infection in Patients With Primary Immunodeficiency and Secondary Humoral Deficiency
RECRUITINGHormone Therapy With or Without Combination Chemotherapy in Treating Women Who Have Undergone Surgery for Node-Negative Breast Cancer (The TAILORx Trial)
ACTIVE NOT RECRUITINGPromising ROd-cone DYstrophy Gene therapY
RECRUITINGGENES AND AUTISM - IPSC
NOT YET RECRUITINGVascular Function, Sarcopenia and Pain in Postmenopausal Osteoporosis
RECRUITINGCharacterization of Autoreactive Regulatory and Conventional CD4 T Cells in Recent Onset Type 1 Diabetes and Control Individuals
RECRUITINGLung-MAP: A Master Screening Protocol for Previously-Treated Non-Small Cell Lung Cancer
RECRUITINGNCI COVID-19 in Cancer Patients, NCCAPS Study
ACTIVE NOT RECRUITINGProspective Natural History Study of Retinitis Pigmentosa
ACTIVE NOT RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGExternal Resources
Links to major genomics databases and tools