| Variant ID | 29620 |
|---|---|
| Entrez Gene ID | 2314 |
| Gene | FLII (GeneCards) |
| Location | hg19 17:18152174-18152174
hg38 17:18248860-18248860 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.18152174 C>T (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9022 |
| CADD Raw score (version 1.3) | 6.884757 (Deleterious) |
| FATHMM raw prediction score | 0.97088 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.4 (Deleterious) |
| PROVEAN score | -7.59 (Deleterious) |
| MetaSVM score | 0.191 (Deleterious) |
| MetaLR score | 0.498 (Tolerated) |
| MCAP score | 0.271 (Deleterious) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.32 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.749 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.978 |
| Deleterious probability by iFish2 | 0.4196 (Neutral) |
| Deleterious probability by DeFine | 0.9591 (Deleterious) |
| Entrez Gene ID | 2314 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FLII (GeneCards) |
| Number of variants in FLII in this database | 2 (view all the variants) |
| Full name | FLII, actin remodeling protein |
| Band | 17p11.2 |
| Other IDs | Vega: OTTHUMG00000059389 OMIM: 600362 HGNC: HGNC:3750 Ensembl: ENSG00000177731 |
| Other names | FLI, FLIL, Fli1 |
| Summary | This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.296 (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; |