CIC Chromosome 19
Capicua transcriptional repressor
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What This Gene Does
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]
Associated Conditions (15)
Intellectual disability
autosomal dominant 45
Inborn genetic diseases
See cases
CIC-related disorder
Congenital cerebellar hypoplasia
Marfanoid habitus and intellectual disability
Anaplastic oligodendroglioma
Neoplasm
Oligodendroglioma
CIC-related neurodevelopmental disorders
Glioma susceptibility 1
Neurodevelopmental delay
Autism spectrum disorder
Autosomal dominant non-syndromic intellectual disability
Key Variants
RS1044899707
Conflicting classifications of pathogenicity
Health Risk
RS1174760610
Conflicting classifications of pathogenicity
Health Risk
RS139895527
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 45, Inborn genetic diseases
Health Risk
RS145102151
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 45
Health Risk
RS146337288
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 45, Inborn genetic diseases
Health Risk
RS2038071036
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 45, Inborn genetic diseases
Health Risk
RS2147198843
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 45, Intellectual disability
Health Risk
RS2147280018
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 45, Intellectual disability
Health Risk
RS45596843
Conflicting classifications of pathogenicity
Health Risk
RS539540626
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 45, Intellectual disability
Health Risk
RS547565552
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 45, Intellectual disability
Health Risk
RS564911507
Conflicting classifications of pathogenicity
See cases, Intellectual disability, autosomal dominant 45
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752780532 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS951320175 | Health Risk | Likely pathogenic | CIC-related disorder, CIC-related disorder |
| RS1135401823 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS1135401824 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS1282986679 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS1555769289 | Health Risk | Pathogenic | — |
| RS1555769968 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS1555770200 | Health Risk | Pathogenic | — |
| RS1555773554 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1568487734 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS1599892470 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS2037985341 | Health Risk | Pathogenic | — |
| RS2147014804 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS2147313207 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS2513599588 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS2513811168 | Health Risk | Pathogenic | Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability |
| RS2513875542 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2514082917 | Health Risk | Pathogenic | — |
| RS373584239 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS761345552 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |
| RS2513612309 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 45, Intellectual disability |