Variant ID | 29850 |
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Entrez Gene ID | 23085 |
Gene | ERC1 (GeneCards) |
Location | hg19 12:1345953-1345953
hg38 12:1236787-1236787 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | NextSeq500 |
Mutation(HGVS format) | NC_000012.11:g.1345953 T>C (Genome Assembly: hg19) |
Exon or Intron | Exon |
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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 | 133851895 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 1.5927 |
CADD Raw score (version 1.3) | 0.295398 (Deleterious) |
FATHMM raw prediction score | 0.97569 (Tolerated) |
Deleterious probability by DeFine | 0.8687 (Deleterious) |
Entrez Gene ID | 23085 (NCBI Gene) |
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Official Gene Symbol | ERC1 (GeneCards) |
Number of variants in ERC1 in this database | 3 (view all the variants) |
Full name | ELKS/RAB6-interacting/CAST family member 1 |
Band | 12p13.33 |
Other IDs | OMIM: 607127 HGNC: HGNC:17072 Ensembl: ENSG00000082805 |
Other names | ELKS, Cast2, ERC-1, RAB6IP2 |
Summary | The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
Individual ID | 28867142.13 (view all the variants in this individual) |
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Pubmed ID | 28867142 |
Whose mosaic mutation | Female Patient |
Origin of mosaic mutation in patients | de novo |
Phenotype | 3 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
OMIM ID | 209850 |
Pubmed ID | 28867142 |
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Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
Journal | American Journal of Human Genetics |
Publication date | 2017.08 |
Disease | Autism Spectrum Disorders |
Incidence | 0.01 |
Number of cases | cases of unknown sex: 247; |