| Variant ID | 29882 |
|---|---|
| Entrez Gene ID | 79890 |
| Gene | RIN3 (GeneCards) |
| Location | hg19 14:93081784-93081784
hg38 14:92615439-92615439 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000014.8:g.93081784 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8074 |
| CADD Raw score (version 1.3) | 5.195033 (Deleterious) |
| FATHMM raw prediction score | 0.72048 (Tolerated) |
| SIFT score | 0.128 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.8 (Deleterious) |
| PROVEAN score | -2.3 (Tolerated) |
| MetaSVM score | -0.812 (Tolerated) |
| MetaLR score | 0.199 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.983 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.765 |
| Deleterious probability by iFish2 | 0.8916 (Deleterious) |
| Deleterious probability by DeFine | 0.9642 (Deleterious) |
| Entrez Gene ID | 79890 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RIN3 (GeneCards) |
| Number of variants in RIN3 in this database | 1 (view all the variants) |
| Full name | Ras and Rab interactor 3 |
| Band | 14q32.12 |
| Other IDs | Vega: OTTHUMG00000171198 OMIM: 610223 HGNC: HGNC:18751 Ensembl: ENSG00000100599 |
| Other names | None |
| Summary | Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| Individual ID | 28867142.17 (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; |