| Variant ID | 29115 |
|---|---|
| Entrez Gene ID | 2262 |
| Gene | GPC5 (GeneCards) |
| Location | hg19 13:92345513-92345513
hg38 13:91693259-91693259 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000013.10:g.92345513 T>C (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7561 |
| CADD Raw score (version 1.3) | 4.503283 (Deleterious) |
| FATHMM raw prediction score | 0.9866 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.998 (Deleterious) |
| MutatioinAssessor score | 2.885 (Deleterious) |
| PROVEAN score | -4.6 (Deleterious) |
| MetaSVM score | -0.291 (Tolerated) |
| MetaLR score | 0.341 (Tolerated) |
| MCAP score | 0.074 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.07 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.152 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.01 |
| Deleterious probability by iFish2 | 0.9758 (Deleterious) |
| Deleterious probability by DeFine | 0.9521 (Deleterious) |
| Entrez Gene ID | 2262 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPC5 (GeneCards) |
| Number of variants in GPC5 in this database | 20 (view all the variants) |
| Full name | glypican 5 |
| Band | 13q31.3 |
| Other IDs | Vega: OTTHUMG00000017200 OMIM: 602446 HGNC: HGNC:4453 Ensembl: ENSG00000179399 |
| Other names | None |
| Summary | Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] |
| Individual ID | 27632392.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27632392 |
| Whose mosaic mutation | 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 | 27632392 |
|---|---|
| Title | The Contribution of Mosaic Variants to Autism Spectrum Disorder |
| Journal | PLoS Genetics |
| Publication date | 2016.09 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 16; |