Overview

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)

Other information

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

Annotations and predictions

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 #1

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

Publication #1: 28867142

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;