| Variant ID | 29634 |
|---|---|
| Entrez Gene ID | 54856 |
| Gene | GON4L (GeneCards) |
| Location | hg19 1:155735530-155735530
hg38 1:155765739-155765739 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.155735530 A>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2494 |
| CADD Raw score (version 1.3) | 3.147189 (Deleterious) |
| FATHMM raw prediction score | 0.05561 (Tolerated) |
| SIFT score | 0.035 (Deleterious) |
| LRT score | 0.343 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.845 (Tolerated) |
| PROVEAN score | -1.71 (Tolerated) |
| MetaSVM score | -1.054 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.152 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.641 |
| Deleterious probability by iFish2 | 0.0171 (Neutral) |
| Deleterious probability by DeFine | 0.8614 (Deleterious) |
| Entrez Gene ID | 54856 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GON4L (GeneCards) |
| Number of variants in GON4L in this database | 1 (view all the variants) |
| Full name | gon-4 like |
| Band | 1q22 |
| Other IDs | Vega: OTTHUMG00000014106 OMIM: 610393 HGNC: HGNC:25973 Ensembl: ENSG00000116580 |
| Other names | GON4, YARP, GON-4 |
| Summary | None |
| Individual ID | 28714951.310 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |