| Variant ID | 29687 |
|---|---|
| Entrez Gene ID | 135935 |
| Gene | NOBOX (GeneCards) |
| Location | hg19 7:144096873-144096873
hg38 7:144399780-144399780 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.144096873 A>G (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1479 |
| CADD Raw score (version 1.3) | -0.020829 (Deleterious) |
| FATHMM raw prediction score | 0.15794 (Tolerated) |
| Deleterious probability by DeFine | 0.7877 (Deleterious) |
| Entrez Gene ID | 135935 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOBOX (GeneCards) |
| Number of variants in NOBOX in this database | 2 (view all the variants) |
| Full name | NOBOX oogenesis homeobox |
| Band | 7q35 |
| Other IDs | Vega: OTTHUMG00000158051 OMIM: 610934 HGNC: HGNC:22448 Ensembl: ENSG00000106410 |
| Other names | OG2, OG-2, OG2X, POF5, TCAG_12042 |
| Summary | This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011] |
| Individual ID | 28714951.363 (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; |