| Variant ID | 29712 |
|---|---|
| Entrez Gene ID | 55277 |
| Gene | FGGY (GeneCards) |
| Location | hg19 1:60106970-60106970
hg38 1:59641298-59641298 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.60106970 T>G (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.4597 |
| CADD Raw score (version 1.3) | -0.768155 (Deleterious) |
| FATHMM raw prediction score | 0.00322 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.001 |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | -0.13 (Tolerated) |
| MetaSVM score | -1.007 (Tolerated) |
| MetaLR score | 0.014 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -4.62 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.246 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.391 |
| Deleterious probability by iFish2 | 0.007 (Neutral) |
| Deleterious probability by DeFine | 0.3304 (Neutral) |
| Entrez Gene ID | 55277 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FGGY (GeneCards) |
| Number of variants in FGGY in this database | 5 (view all the variants) |
| Full name | FGGY carbohydrate kinase domain containing |
| Band | 1p32.1 |
| Other IDs | Vega: OTTHUMG00000008424 OMIM: 611370 HGNC: HGNC:25610 Ensembl: ENSG00000172456 |
| Other names | None |
| Summary | This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
| Individual ID | 28867142.87 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |