| Variant ID | 29362 |
|---|---|
| Entrez Gene ID | 4781 |
| Gene | NFIB (GeneCards) |
| Location | hg19 9:14307297-14307297
hg38 9:14307298-14307298 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.14307297 G>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9257 |
| CADD Raw score (version 1.3) | 6.763937 (Deleterious) |
| FATHMM raw prediction score | 0.96515 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.075 (Deleterious) |
| PROVEAN score | -7 (Deleterious) |
| MetaSVM score | -0.445 (Tolerated) |
| MetaLR score | 0.319 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.71 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.877 |
| Deleterious probability by iFish2 | 0.9517 (Deleterious) |
| Deleterious probability by DeFine | 0.9629 (Deleterious) |
| Entrez Gene ID | 4781 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NFIB (GeneCards) |
| Number of variants in NFIB in this database | 4 (view all the variants) |
| Full name | nuclear factor I B |
| Band | 9p23-p22.3 |
| Other IDs | Vega: OTTHUMG00000021027 OMIM: 600728 HGNC: HGNC:7785 Ensembl: ENSG00000147862 |
| Other names | CTF, NF1-B, NFI-B, NFIB2, NFIB3, NF-I/B, NFI-RED, HMGIC/NFIB |
| Summary | None |
| Individual ID | 28714951.38 (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; |