| Variant ID | 29291 |
|---|---|
| Entrez Gene ID | 10594 |
| Gene | PRPF8 (GeneCards) |
| Location | hg19 17:1582562-1582562
hg38 17:1679268-1679268 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.1582562 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| EIGEN score | 0.2422 |
| CADD Raw score (version 1.3) | -0.739502 (Deleterious) |
| FATHMM raw prediction score | 0.27475 (Tolerated) |
| Deleterious probability by DeFine | 0.8359 (Deleterious) |
| Entrez Gene ID | 10594 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRPF8 (GeneCards) |
| Number of variants in PRPF8 in this database | 2 (view all the variants) |
| Full name | pre-mRNA processing factor 8 |
| Band | 17p13.3 |
| Other IDs | Vega: OTTHUMG00000090553 OMIM: 607300 HGNC: HGNC:17340 Ensembl: ENSG00000174231 |
| Other names | PRP8, RP13, HPRP8, PRPC8, SNRNP220 |
| Summary | Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.168 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |