Overview

Variant ID 29350
Entrez Gene ID 9147
Gene NEMF (GeneCards)
Location hg19 14:50307512-50307512
hg38 14:49840794-49840794
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method MiSeq
Mutation(HGVS format) NC_000014.8:g.50307512 C>A (Genome Assembly: hg19)

Other information

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 107349540

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.6184
CADD Raw score (version 1.3) 6.773881 (Deleterious)
FATHMM raw prediction score 0.98581 (Tolerated)
SIFT score 0.003 (Deleterious)
LRT score 0 (Deleterious)
MutationTaster score 1 (Deleterious)
MutatioinAssessor score 3.16 (Deleterious)
PROVEAN score -5.29 (Deleterious)
MetaSVM score -0.48 (Tolerated)
MetaLR score 0.293 (Tolerated)
MCAP score 0.09 (Deleterious)
FitCons score 0.707 (Highly Significant p < 0.003 )
Genomic Evolutionary Rate Profiling (GERP) score 5.49
PhyloP score based on multiple alignment of 100 vertebrates 7.347
PhastCons score based on multiple alignment of 100 vertebrates 1
SiPhy log transformed odds ratio on multiple alignment of 29 mammals 18.947
Deleterious probability by iFish2 0.9665 (Deleterious)
Deleterious probability by DeFine 0.9658 (Deleterious)
Entrez Gene ID 9147 (NCBI Gene)
Official Gene Symbol NEMF (GeneCards)
Number of variants in NEMF in this database 1 (view all the variants)
Full name nuclear export mediator factor
Band 14q21.3
Other IDs Vega: OTTHUMG00000170857
OMIM: 608378
HGNC: HGNC:10663
Ensembl: ENSG00000165525
Other names NY-CO-1, SDCCAG1
Summary This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]

Individual #1

Individual ID 28714951.26 (view all the variants in this individual)
Pubmed ID 28714951
Whose mosaic mutation Patient  
Phenotype 3  
Disease Autism Spectrum Disorders (view all the variants in this disease)
OMIM ID 209850

Publication #1: 28714951

Pubmed ID 28714951
Title Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Journal Nat Neurosci
Publication date 2017.07
Disease Autism Spectrum Disorders
Incidence 0.01
Number of cases cases of unknown sex: 376;