| Variant ID | 2584 |
|---|---|
| Entrez Gene ID | 55599 |
| Gene | RNPC3 (GeneCards) |
| Location | hg19 1:104084350-104084350
hg38 1:103541728-103541728 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.104084350 G>A (Genome Assembly: GRCh37) |
| 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 | 0.0037 |
| CADD Raw score (version 1.3) | 0.804494 (Deleterious) |
| FATHMM raw prediction score | 0.1065 (Tolerated) |
| Deleterious probability by DeFine | 0.5003 (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 | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |