| Disease ID | Disease name | Source of annotation with PRPF8 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS268000 | RETINITIS PIGMENTOSA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 69 | PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Spliceosome | hsa03040 | 5.73 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Gene Expression | R-HSA-74160 | 2.72 |
| mRNA Splicing - Minor Pathway | R-HSA-72165 | 7.59 |
| mRNA Splicing - Major Pathway | R-HSA-72163 | 6.15 |
| Processing of Capped Intron-Containing Pre-mRNA | R-HSA-72203 | 6.1 |
| mRNA Splicing | R-HSA-72172 | 6.15 |
| GO term | GO ID | GO IC |
|---|---|---|
| pre-mRNA binding | GO:0036002 | 6.52 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| second spliceosomal transesterification activity | GO:0000386 | 7.95 |
| U1 snRNA binding | GO:0030619 | 8.13 |
| snRNA binding | GO:0017069 | 6.21 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| U5 snRNA binding | GO:0030623 | 9.74 |
| polyubiquitin binding | GO:0031593 | 5.98 |
| ubiquitin-like protein binding | GO:0032182 | 4.93 |
| pre-mRNA intronic binding | GO:0097157 | 7.66 |
| catalytic activity | GO:0003824 | 1.05 |
| ubiquitin binding | GO:0043130 | 5.09 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| U2 snRNA binding | GO:0030620 | 8.35 |
| K63-linked polyubiquitin binding | GO:0070530 | 6.79 |
| U6 snRNA binding | GO:0017070 | 7.44 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleic acid binding | GO:0003676 | 1.44 |
| binding | GO:0005488 | 0.18 |