| Variant ID | 29601 |
|---|---|
| Entrez Gene ID | 54751 |
| Gene | FBLIM1 (GeneCards) |
| Location | hg19 1:16101147-16101147
hg38 1:15774652-15774652 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.16101147 T>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3527 |
| CADD Raw score (version 1.3) | 3.931778 (Deleterious) |
| FATHMM raw prediction score | 0.856 (Tolerated) |
| SIFT score | 0.289 (Tolerated) |
| LRT score | 0.003 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.155 (Deleterious) |
| PROVEAN score | -2.46 (Tolerated) |
| MetaSVM score | -0.542 (Tolerated) |
| MetaLR score | 0.429 (Tolerated) |
| MCAP score | 0.074 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.171 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.865 |
| Deleterious probability by iFish2 | 0.0885 (Neutral) |
| Deleterious probability by DeFine | 0.9074 (Deleterious) |
| Entrez Gene ID | 54751 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBLIM1 (GeneCards) |
| Number of variants in FBLIM1 in this database | 1 (view all the variants) |
| Full name | filamin binding LIM protein 1 |
| Band | 1p36.21 |
| Other IDs | Vega: OTTHUMG00000003079 OMIM: 607747 HGNC: HGNC:24686 Ensembl: ENSG00000162458 |
| Other names | CAL, FBLP1, FBLP-1 |
| Summary | This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.277 (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; |