| Variant ID | 29327 |
|---|---|
| Entrez Gene ID | 55599 |
| Gene | RNPC3 (GeneCards) |
| Location | hg19 1:104093562-104093562
hg38 1:103550940-103550940 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.104093562 G>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 |
|---|---|
| EIGEN score | 1.1583 |
| CADD Raw score (version 1.3) | 4.70241 (Deleterious) |
| FATHMM raw prediction score | 0.99568 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.106 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.79 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.516 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.223 |
| Deleterious probability by DeFine | 0.8792 (Deleterious) |
| Entrez Gene ID | 55599 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNPC3 (GeneCards) |
| Number of variants in RNPC3 in this database | 2 (view all the variants) |
| Full name | RNA binding region (RNP1, RRM) containing 3 |
| Band | 1p21.1 |
| Other IDs | Vega: OTTHUMG00000166613 OMIM: 618016 HGNC: HGNC:18666 Ensembl: ENSG00000185946 |
| Other names | RNP, RBM40, SNRNP65 |
| Summary | Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.03 (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; |