| Variant ID | 29911 |
|---|---|
| Entrez Gene ID | 57724 |
| Gene | EPG5 (GeneCards) |
| Location | hg19 18:43535061-43535061
hg38 18:45955095-45955095 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000018.9:g.43535061 G>A (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.2587 |
| CADD Raw score (version 1.3) | 0.80186 (Deleterious) |
| FATHMM raw prediction score | 0.07009 (Tolerated) |
| SIFT score | 0.659 (Tolerated) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -0.51 (Tolerated) |
| MetaSVM score | -1.007 (Tolerated) |
| MetaLR score | 0.012 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.66 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.244 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.227 |
| Deleterious probability by iFish2 | 0.0562 (Neutral) |
| Deleterious probability by DeFine | 0.8325 (Deleterious) |
| Entrez Gene ID | 57724 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPG5 (GeneCards) |
| Number of variants in EPG5 in this database | 1 (view all the variants) |
| Full name | ectopic P-granules autophagy protein 5 homolog |
| Band | 18q12.3-q21.1 |
| Other IDs | Vega: OTTHUMG00000132626 OMIM: 615068 HGNC: HGNC:29331 Ensembl: ENSG00000152223 |
| Other names | HEEW1, VICIS, KIAA1632 |
| Summary | This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015] |
| Individual ID | 28867142.21 (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; |