| Variant ID | 29175 |
|---|---|
| Entrez Gene ID | 9453 |
| Gene | GGPS1 (GeneCards) |
| Location | hg19 1:235505485-235505485
hg38 1:235342170-235342170 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.235505485 G>A (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0332 |
| CADD Raw score (version 1.3) | 2.240701 (Deleterious) |
| FATHMM raw prediction score | 0.97044 (Tolerated) |
| SIFT score | 0.317 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.32 (Tolerated) |
| PROVEAN score | -2.04 (Tolerated) |
| MetaSVM score | -0.833 (Tolerated) |
| MetaLR score | 0.206 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.26 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.855 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.684 |
| Deleterious probability by iFish2 | 0.6642 (Deleterious) |
| Deleterious probability by DeFine | 0.9657 (Deleterious) |
| Entrez Gene ID | 9453 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GGPS1 (GeneCards) |
| Number of variants in GGPS1 in this database | 1 (view all the variants) |
| Full name | geranylgeranyl diphosphate synthase 1 |
| Band | 1q42.3 |
| Other IDs | Vega: OTTHUMG00000037963 OMIM: 606982 HGNC: HGNC:4249 Ensembl: ENSG00000152904 |
| Other names | GGPPS, GGPPS1 |
| Summary | This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010] |
| Individual ID | 28503910.52 (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; |