Variant ID | 29658 |
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Entrez Gene ID | 1952 |
Gene | CELSR2 (GeneCards) |
Location | hg19 1:109801415-109801415
hg38 1:109258793-109258793 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | MiSeq |
Mutation(HGVS format) | NC_000001.10:g.109801415 G>A (Genome Assembly: hg19) |
Exon or Intron | NA |
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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 | 249250621 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 1.8659 |
CADD Raw score (version 1.3) | 0.569802 (Deleterious) |
FATHMM raw prediction score | 0.97617 (Tolerated) |
Deleterious probability by DeFine | 0.9743 (Deleterious) |
Entrez Gene ID | 1952 (NCBI Gene) |
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Official Gene Symbol | CELSR2 (GeneCards) |
Number of variants in CELSR2 in this database | 1 (view all the variants) |
Full name | cadherin EGF LAG seven-pass G-type receptor 2 |
Band | 1p13.3 |
Other IDs | Vega: OTTHUMG00000012003 OMIM: 604265 HGNC: HGNC:3231 Ensembl: ENSG00000143126 |
Other names | EGFL2, MEGF3, ADGRC2, CDHF10, Flamingo1 |
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. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008] |
Individual ID | 28714951.334 (view all the variants in this individual) |
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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 |
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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; |