| Variant ID | 29906 |
|---|---|
| Entrez Gene ID | 85302 |
| Gene | FBF1 (GeneCards) |
| Location | hg19 17:73906883-73906883
hg38 17:75910802-75910802 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000017.10:g.73906883 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6078 |
| CADD Raw score (version 1.3) | 4.181304 (Deleterious) |
| FATHMM raw prediction score | 0.12643 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.495 (Tolerated) |
| MetaSVM score | -0.992 (Tolerated) |
| MetaLR score | 0.103 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.781 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.16 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.174 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.026 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.96 |
| Deleterious probability by iFish2 | 0.5485 (Deleterious) |
| Deleterious probability by DeFine | 0.7295 (Deleterious) |
| Entrez Gene ID | 85302 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBF1 (GeneCards) |
| Number of variants in FBF1 in this database | 1 (view all the variants) |
| Full name | Fas binding factor 1 |
| Band | 17q25.1 |
| Other IDs | Vega: OTTHUMG00000179919 OMIM: 616807 HGNC: HGNC:24674 Ensembl: ENSG00000188878 |
| Other names | Alb, FBF-1 |
| Summary | None |
| Individual ID | 28867142.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |