Detailed information for PRPF8
Basic information
| Official symbol | PRPF8 |
|---|---|
| Official full name | pre-mRNA processing factor 8 |
| Location | 17p13.3 |
| Gene type | protein-coding |
| Synonyms | HPRP8|PRP8|PRPC8|RP13|SNRNP220 |
| Quick links | Entrez ID:10594; HGNC:17340; MIM:607300; Ensembl:ENSG00000174231; HPRD:06295; Vega:OTTHUMG00000090553 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0005682 | U5 snRNP | 6 | 3 | 0.07 | 45.84 | 2.49e-05 | 0.0001 |
| GO:0030532 | small nuclear ribonucleoprotein complex | 33 | 5 | 0.36 | 13.89 | 2.71e-05 | 0.0002 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| mRNA Splicing - Minor Pathway | Pathway commons | 42 | 3 | 0.19 | 15.88 | 0.0009 | 0.0055 |
| mRNA Splicing | Pathway commons | 107 | 4 | 0.48 | 8.31 | 0.0014 | 0.0076 |
| mRNA Splicing - Major Pathway | Pathway commons | 107 | 4 | 0.48 | 8.31 | 0.0014 | 0.0076 |
| Processing of Capped Intron-Containing Pre-mRNA | Pathway commons | 138 | 4 | 0.62 | 6.44 | 0.0036 | 0.0185 |
| mRNA Processing | Pathway commons | 157 | 4 | 0.71 | 5.66 | 0.0057 | 0.0267 |
| Formation and Maturation of mRNA Transcript | Pathway commons | 185 | 4 | 0.83 | 4.81 | 0.0100 | 0.0429 |
| Spliceosome | KEGG | 127 | 6 | 0.57 | 10.50 | 2.52e-05 | 0.0002 |
| mRNA processing | WIKI | 132 | 4 | 0.59 | 6.74 | 0.0031 | 0.0114 |
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|
| Hsapiens_Module_918 | 87 | 6 | 0.89 | 6.72 | 0.0003 | 0.0022 |
| Hsapiens_Module_691 | 121 | 6 | 1.24 | 4.83 | 0.0016 | 0.0092 |
| Hsapiens_Module_981 | 8 | 2 | 0.08 | 24.34 | 0.0028 | 0.0132 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr17 | 1552922 | 1589176 | 600059 | Retinitis pigmentosa 13 | 3 | 607300 | 17p13.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr17 | 1552922 | 1589176 | 10594 | Prpf8 | MGI:2179381 | MP:0001186 | pigmentation phenotype |
| chr17 | 1552922 | 1589176 | 10594 | Prpf8 | MGI:2179381 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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