| Variant ID | 29867 |
|---|---|
| Entrez Gene ID | 56163 |
| Gene | RNF17 (GeneCards) |
| Location | hg19 13:25373552-25373552
hg38 13:24799414-24799414 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000013.10:g.25373552 C>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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3924 |
| CADD Raw score (version 1.3) | 2.872581 (Deleterious) |
| FATHMM raw prediction score | 0.59923 (Tolerated) |
| SIFT score | 0.075 (Tolerated) |
| LRT score | 0.648 (Tolerated) |
| MutationTaster score | 0.972 (Tolerated) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | 0.26 (Tolerated) |
| MetaSVM score | -0.96 (Tolerated) |
| MetaLR score | 0.012 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.54 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.038 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.983 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.319 |
| Deleterious probability by iFish2 | 0.0319 (Neutral) |
| Deleterious probability by DeFine | 0.8982 (Deleterious) |
| Entrez Gene ID | 56163 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNF17 (GeneCards) |
| Number of variants in RNF17 in this database | 5 (view all the variants) |
| Full name | ring finger protein 17 |
| Band | 13q12.12 |
| Other IDs | Vega: OTTHUMG00000016589 OMIM: 605793 HGNC: HGNC:10060 Ensembl: ENSG00000132972 |
| Other names | TDRD4, Mmip-2, SPATA23 |
| Summary | This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010] |
| Individual ID | 28867142.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |