Overview

Variant ID 29307
Entrez Gene ID 9810
Gene RNF40 (GeneCards)
Location hg19 16:30776827-30776827
hg38 16:30765506-30765506
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method PASM
Mutation(HGVS format) NC_000016.9:g.30776827 G>T (Genome Assembly: GRCh37)

Other information

Exon or Intron Intron
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 90354753

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2384
CADD Raw score (version 1.3) -0.179493 (Deleterious)
FATHMM raw prediction score 0.1488 (Tolerated)
Deleterious probability by DeFine 0.7708 (Deleterious)
Entrez Gene ID 9810 (NCBI Gene)
Official Gene Symbol RNF40 (GeneCards)
Number of variants in RNF40 in this database 2 (view all the variants)
Full name ring finger protein 40
Band 16p11.2
Other IDs Vega: OTTHUMG00000132394
OMIM: 607700
HGNC: HGNC:16867
Ensembl: ENSG00000103549
Other names BRE1B, RBP95, STARING
Summary The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Individual #1

Individual ID 28503910.184 (view all the variants in this individual)
Pubmed ID 28503910
Whose mosaic mutation Patient  
Phenotype 3  
Disease Autism Spectrum Disorders (view all the variants in this disease)
OMIM ID 209850

Publication #1: 28503910

Pubmed ID 28503910
Title Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
Journal Human Mutation
Publication date 2017.05
Disease Autism Spectrum Disorders
Incidence 0.01
Number of cases cases of unknown sex: 215;