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) |
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 |
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 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 |
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; |