| Variant ID | 29280 |
|---|---|
| Entrez Gene ID | 2335 |
| Gene | FN1 (GeneCards) |
| Location | hg19 2:216235029-216235029
hg38 2:215370306-215370306 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000002.11:g.216235029 C>G (Genome Assembly: GRCh37) |
| 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3854 |
| CADD Raw score (version 1.3) | 5.733941 (Deleterious) |
| FATHMM raw prediction score | 0.94045 (Tolerated) |
| SIFT score | 0.152 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.165 (Tolerated) |
| PROVEAN score | -1.34 (Tolerated) |
| MetaSVM score | -0.755 (Tolerated) |
| MetaLR score | 0.294 (Tolerated) |
| MCAP score | 0.03 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.989 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.617 |
| Deleterious probability by iFish2 | 0.4875 (Neutral) |
| Deleterious probability by DeFine | 0.9672 (Deleterious) |
| Entrez Gene ID | 2335 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FN1 (GeneCards) |
| Number of variants in FN1 in this database | 2 (view all the variants) |
| Full name | fibronectin 1 |
| Band | 2q35 |
| Other IDs | Vega: OTTHUMG00000133054 OMIM: 135600 HGNC: HGNC:3778 Ensembl: ENSG00000115414 |
| Other names | FN, CIG, FNZ, MSF, ED-B, FINC, GFND, LETS, GFND2, SMDCF |
| Summary | This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016] |
| Individual ID | 28503910.157 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |