Detailed information for PRPF31
Basic information
| Official symbol | PRPF31 |
|---|---|
| Official full name | pre-mRNA processing factor 31 |
| Location | 19q13.42 |
| Gene type | protein-coding |
| Synonyms | NY-BR-99|PRP31|RP11|SNRNP61 |
| Quick links | Entrez ID:26121; HGNC:15446; MIM:606419; Ensembl:ENSG00000105618; HPRD:05917; Vega:OTTHUMG00000066040 |
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 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
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 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr19 | 54617789 | 54636150 | 600138 | Retinitis pigmentosa 11 | 3 | 606419 | 19q13.42 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr19 | 54617789 | 54636150 | 26121 | Prpf31 | MGI:1916238 | MP:0001186 | pigmentation phenotype |
| chr19 | 54617789 | 54636150 | 26121 | Prpf31 | MGI:1916238 | MP:0005391 | vision/eye phenotype |
| chr19 | 54617789 | 54636150 | 26121 | Prpf31 | MGI:1916238 | MP:0010768 | mortality/aging |
Mutation spectrum
If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.
Gene-disease network
If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.
Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.