| Variant ID | 29126 |
|---|---|
| Entrez Gene ID | 2530 |
| Gene | FUT8 (GeneCards) |
| Location | hg19 14:66096265-66096265
hg38 14:65629547-65629547 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.66096265 C>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5243 |
| CADD Raw score (version 1.3) | 7.302768 (Deleterious) |
| FATHMM raw prediction score | 0.83395 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.105 (Deleterious) |
| PROVEAN score | -6.73 (Deleterious) |
| MetaSVM score | 0.838 (Deleterious) |
| MetaLR score | 0.86 (Deleterious) |
| MCAP score | 0.296 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.643 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.321 |
| Deleterious probability by iFish2 | 0.6408 (Deleterious) |
| Deleterious probability by DeFine | 0.906 (Deleterious) |
| Entrez Gene ID | 2530 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FUT8 (GeneCards) |
| Number of variants in FUT8 in this database | 18 (view all the variants) |
| Full name | fucosyltransferase 8 |
| Band | 14q23.3 |
| Other IDs | Vega: OTTHUMG00000142818 OMIM: 602589 HGNC: HGNC:4019 Ensembl: ENSG00000033170 |
| Other names | CDGF |
| Summary | This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] |
| Individual ID | 28503910.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |