| Variant ID | 29692 |
|---|---|
| Entrez Gene ID | 1272 |
| Gene | CNTN1 (GeneCards) |
| Location | hg19 12:41410611-41410611
hg38 12:41016809-41016809 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.41410611 A>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3868 |
| CADD Raw score (version 1.3) | 5.318109 (Deleterious) |
| FATHMM raw prediction score | 0.95655 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.895 (Tolerated) |
| PROVEAN score | -5.02 (Deleterious) |
| MetaSVM score | -0.737 (Tolerated) |
| MetaLR score | 0.236 (Tolerated) |
| MCAP score | 0.05 (Deleterious) |
| FitCons score | 0.693 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.662 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.044 |
| Deleterious probability by iFish2 | 0.6935 (Deleterious) |
| Deleterious probability by DeFine | 0.9676 (Deleterious) |
| Entrez Gene ID | 1272 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNTN1 (GeneCards) |
| Number of variants in CNTN1 in this database | 6 (view all the variants) |
| Full name | contactin 1 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000169362 OMIM: 600016 HGNC: HGNC:2171 Ensembl: ENSG00000018236 |
| Other names | F3, GP135, MYPCN |
| Summary | The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 28714951.368 (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; |