| Variant ID | 29452 |
|---|---|
| Entrez Gene ID | 64864 |
| Gene | RFX7 (GeneCards) |
| Location | hg19 15:56388396-56388396
hg38 15:56096198-56096198 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.56388396 C>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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2807 |
| CADD Raw score (version 1.3) | 1.535749 (Deleterious) |
| FATHMM raw prediction score | 0.83896 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.879 (Deleterious) |
| MutatioinAssessor score | 0.97 (Tolerated) |
| PROVEAN score | -1.62 (Tolerated) |
| MetaSVM score | -0.968 (Tolerated) |
| MetaLR score | 0.09 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.646 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.127 |
| Deleterious probability by iFish2 | 0.2305 (Neutral) |
| Deleterious probability by DeFine | 0.9456 (Deleterious) |
| Entrez Gene ID | 64864 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RFX7 (GeneCards) |
| Number of variants in RFX7 in this database | 2 (view all the variants) |
| Full name | regulatory factor X7 |
| Band | 15q21.3 |
| Other IDs | Vega: OTTHUMG00000172508 OMIM: 612660 HGNC: HGNC:25777 Ensembl: ENSG00000181827 |
| Other names | RFXDC2 |
| Summary | RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009] |
| Individual ID | 28714951.128 (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; |