| Variant ID | 29662 |
|---|---|
| Entrez Gene ID | 23152 |
| Gene | CIC (GeneCards) |
| Location | hg19 19:42792016-42792016
hg38 19:42287864-42287864 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.42792016 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 236388 |
| Variant occurences in COSMIC | 1(oesophagus)|1(autonomic_ganglia) |
| EIGEN score | 0.4998 |
| CADD Raw score (version 1.3) | 8.730174 (Deleterious) |
| FATHMM raw prediction score | 0.9647 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.23 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.67 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.431 |
| Deleterious probability by DeFine | 0.9343 (Deleterious) |
| Entrez Gene ID | 23152 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CIC (GeneCards) |
| Number of variants in CIC in this database | 1 (view all the variants) |
| Full name | capicua transcriptional repressor |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182794 OMIM: 612082 HGNC: HGNC:14214 Ensembl: ENSG00000079432 |
| Other names | MRD45 |
| Summary | 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] |
| Individual ID | 28714951.338 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |