| 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; |