| Variant ID | 29444 |
|---|---|
| Entrez Gene ID | 9620 |
| Gene | CELSR1 (GeneCards) |
| Location | hg19 22:46777752-46777752
hg38 22:46381855-46381855 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.46777752 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6457 |
| CADD Raw score (version 1.3) | 6.796809 (Deleterious) |
| FATHMM raw prediction score | 0.98765 (Tolerated) |
| SIFT score | 0.024 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.815 (Deleterious) |
| PROVEAN score | -3.93 (Deleterious) |
| MetaSVM score | -1.03 (Tolerated) |
| MetaLR score | 0.096 (Tolerated) |
| MCAP score | 0.129 (Deleterious) |
| FitCons score | 0.696 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.89 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.952 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.804 |
| Deleterious probability by iFish2 | 0.5536 (Deleterious) |
| Deleterious probability by DeFine | 0.9796 (Deleterious) |
| Entrez Gene ID | 9620 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CELSR1 (GeneCards) |
| Number of variants in CELSR1 in this database | 2 (view all the variants) |
| Full name | cadherin EGF LAG seven-pass G-type receptor 1 |
| Band | 22q13.31 |
| Other IDs | Vega: OTTHUMG00000150423 OMIM: 604523 HGNC: HGNC:1850 Ensembl: ENSG00000075275 |
| Other names | ME2, FMI2, CDHF9, HFMI2, ADGRC1 |
| Summary | The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.120 (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; |