| Variant ID | 29850 |
|---|---|
| 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 |
|---|---|
| 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 | 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) |
|---|---|
| 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) |
|---|---|
| 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 |
|---|---|
| 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; |