| Variant ID | 29112 |
|---|---|
| Entrez Gene ID | 27237 |
| Gene | ARHGEF16 (GeneCards) |
| Location | hg19 1:3385486-3385486
hg38 1:3468922-3468922 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000001.10:g.3385486 C>T (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) | 0.0000324 |
|---|---|
| EIGEN score | 0.2695 |
| CADD Raw score (version 1.3) | 6.203209 (Deleterious) |
| FATHMM raw prediction score | 0.97109 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.645 (Deleterious) |
| PROVEAN score | -6.51 (Deleterious) |
| MetaSVM score | -0.844 (Tolerated) |
| MetaLR score | 0.168 (Tolerated) |
| MCAP score | 0.042 (Deleterious) |
| FitCons score | 0.696 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.39 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.467 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.291 |
| Deleterious probability by iFish2 | 0.9962 (Deleterious) |
| Deleterious probability by DeFine | 0.939 (Deleterious) |
| Entrez Gene ID | 27237 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGEF16 (GeneCards) |
| Number of variants in ARHGEF16 in this database | 1 (view all the variants) |
| Full name | Rho guanine nucleotide exchange factor 16 |
| Band | 1p36.32 |
| Other IDs | Vega: OTTHUMG00000000625 HGNC: HGNC:15515 Ensembl: ENSG00000130762 |
| Other names | NBR, GEF16 |
| Summary | Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008] |
| Individual ID | 27632392.05 (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; |