| Variant ID | 29471 |
|---|---|
| Entrez Gene ID | 3995 |
| Gene | FADS3 (GeneCards) |
| Location | hg19 11:61646061-61646061
hg38 11:61878589-61878589 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.61646061 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2037986 |
| Variant occurences in COSMIC | 3(large_intestine) |
| EIGEN score | 0.5464 |
| CADD Raw score (version 1.3) | 7.287807 (Deleterious) |
| FATHMM raw prediction score | 0.96035 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.995 (Deleterious) |
| PROVEAN score | -3.23 (Deleterious) |
| MetaSVM score | -1.025 (Tolerated) |
| MetaLR score | 0.1 (Tolerated) |
| MCAP score | 0.038 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.439 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.418 |
| Deleterious probability by iFish2 | 0.5457 (Deleterious) |
| Deleterious probability by DeFine | 0.9775 (Deleterious) |
| Entrez Gene ID | 3995 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FADS3 (GeneCards) |
| Number of variants in FADS3 in this database | 1 (view all the variants) |
| Full name | fatty acid desaturase 3 |
| Band | 11q12.2 |
| Other IDs | Vega: OTTHUMG00000167500 OMIM: 606150 HGNC: HGNC:3576 Ensembl: ENSG00000221968 |
| Other names | CYB5RP, LLCDL3 |
| Summary | The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.147 (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; |