| Variant ID | 16310 |
|---|---|
| Entrez Gene ID | 23085 |
| Gene | ERC1 (GeneCards) |
| Location | hg19 12:1226962-1226962
hg38 12:1117796-1117796 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.1226962 G>A (Genome Assembly: GRCh37) |
| 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 | 0.2199 |
| CADD Raw score (version 1.3) | 0.073904 (Deleterious) |
| FATHMM raw prediction score | 0.19322 (Tolerated) |
| Deleterious probability by DeFine | 0.5371 (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 | 29217584.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |