Pathway analysis
Pathway commons enrichment analysis 
| Term | Number of reference genes | Number of genes | Expecteed number | Ratio of enrichment | P-Value | Adjusted P-Value | Genes related |
|---|---|---|---|---|---|---|---|
| Visual signal transduction: Rods | 24 | 17 | 0.11 | 157.47 | 2.08e-35 | 2.14e-33 | |
| LRAT|GUCA1B|SAG|PDE6G|RGS9|SLC24A1|RPE65|GUCY2D|PDE6A|RDH5|RHO|RGS9BP|RDH12|CNGA1|PDE6B|GUCA1A|GRK1| | | |||||||
| Visual signal transduction: Cones | 23 | 15 | 0.10 | 144.98 | 1.71e-30 | 8.81e-29 | |
| RGS9|GNAT2|PDE6C|GUCY2D|RPE65|RDH5|PDE6H|RGS9BP|RDH12|GUCA1A|CNGA3|GRK1|LRAT|CNGB3|GUCA1B | | |||||||
| Loss of Nlp from mitotic centrosomes | 61 | 6 | 0.27 | 21.87 | 3.47e-07 | 6.56e-06 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Golgi Cisternae Pericentriolar Stack Reorganization | 62 | 6 | 0.28 | 21.51 | 3.82e-07 | 6.56e-06 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Loss of proteins required for interphase microtubule organizationà from the centrosome | 61 | 6 | 0.27 | 21.87 | 3.47e-07 | 6.56e-06 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Mitotic Prophase | 62 | 6 | 0.28 | 21.51 | 3.82e-07 | 6.56e-06 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Centrosome maturation | 70 | 6 | 0.31 | 19.05 | 7.91e-07 | 1.02e-05 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Recruitment of mitotic centrosome proteins and complexes | 70 | 6 | 0.31 | 19.05 | 7.91e-07 | 1.02e-05 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Opsins | 6 | 3 | 0.03 | 111.15 | 1.77e-06 | 2.03e-05 | |
| RHO|OPN1LW|OPN1MW | | |||||||
| G2/M Transition | 96 | 6 | 0.43 | 13.89 | 5.08e-06 | 5.23e-05 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Mitotic G2-G2/M phases | 99 | 6 | 0.45 | 13.47 | 6.07e-06 | 5.68e-05 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| G alpha (i) signalling events | 32 | 4 | 0.14 | 27.79 | 1.29e-05 | 0.0001 | |
| RHO|GNAT2|OPN1LW|OPN1MW | | |||||||
| M Phase | 158 | 6 | 0.71 | 8.44 | 8.54e-05 | 0.0007 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| DNA Replication | 261 | 7 | 1.17 | 5.96 | 0.0002 | 0.0015 | |
| CEP164|RB1|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Cell Cycle, Mitotic | 318 | 7 | 1.43 | 4.89 | 0.0006 | 0.0041 | |
| CEP164|RB1|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| Mitotic M-M/G1 phases | 242 | 6 | 1.09 | 5.51 | 0.0008 | 0.0052 | |
| CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 | | |||||||
| mRNA Splicing - Minor Pathway | 42 | 3 | 0.19 | 15.88 | 0.0009 | 0.0055 | |
| PRPF8|SNRNP200|PRPF6 | | |||||||
| mRNA Splicing | 107 | 4 | 0.48 | 8.31 | 0.0014 | 0.0076 | |
| PRPF8|PRPF4|SNRNP200|PRPF6 | | |||||||
| mRNA Splicing - Major Pathway | 107 | 4 | 0.48 | 8.31 | 0.0014 | 0.0076 | |
| PRPF8|PRPF4|SNRNP200|PRPF6 | | |||||||
| Processing of Capped Intron-Containing Pre-mRNA | 138 | 4 | 0.62 | 6.44 | 0.0036 | 0.0185 | |
| PRPF8|PRPF4|SNRNP200|PRPF6 | | |||||||
| mRNA Processing | 157 | 4 | 0.71 | 5.66 | 0.0057 | 0.0267 | |
| PRPF8|PRPF4|SNRNP200|PRPF6 | | |||||||
| ABC-family proteins mediated transport | 25 | 2 | 0.11 | 17.78 | 0.0056 | 0.0267 | |
| ABCA4|ABCC6 | | |||||||
| Wnt | 82 | 3 | 0.37 | 8.13 | 0.0061 | 0.0273 | |
| LRP5|FZD4|PAX2 | | |||||||
| Formation and Maturation of mRNA Transcript | 185 | 4 | 0.83 | 4.81 | 0.0100 | 0.0429 | |
| PRPF8|PRPF4|SNRNP200|PRPF6 | | |||||||
KEGG pathway
| Term | Number of reference genes | Number of genes | Expecteed number | Ratio of enrichment | P-Value | Adjusted P-Value | Genes related |
|---|---|---|---|---|---|---|---|
| Phototransduction | 29 | 12 | 0.13 | 91.99 | 2.36e-21 | 5.66e-20 | |
| RGS9|PDE6G|GNAT2|SLC24A1|GUCY2D|PDE6A|RHO|CNGA1|PDE6B|GUCA1A|GRK1|GUCA1B | | |||||||
| Purine metabolism | 162 | 7 | 0.73 | 9.61 | 9.46e-06 | 0.0001 | |
| IMPDH1|PDE6G|PDE6C|PDE6B|GUCY2D|PDE6A|PDE6H | | |||||||
| Spliceosome | 127 | 6 | 0.57 | 10.50 | 2.52e-05 | 0.0002 | |
| PRPF4|PRPF8|PRPF3|SNRNP200|PRPF6|PRPF31 | | |||||||
| Peroxisome | 79 | 5 | 0.36 | 14.07 | 3.01e-05 | 0.0002 | |
| PEX7|MVK|PEX2|PHYH|PEX1 | | |||||||
| Retinol metabolism | 64 | 4 | 0.29 | 13.89 | 0.0002 | 0.0010 | |
| RDH12|RPE65|LRAT|RDH5 | | |||||||
| Terpenoid backbone biosynthesis | 15 | 2 | 0.07 | 29.64 | 0.0020 | 0.0080 | |
| DHDDS|MVK | | |||||||
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | 74 | 3 | 0.33 | 9.01 | 0.0046 | 0.0158 | |
| CACNA1F|DMD|CACNA2D4 | | |||||||
| Hypertrophic cardiomyopathy (HCM) | 83 | 3 | 0.37 | 8.04 | 0.0063 | 0.0168 | |
| CACNA1F|DMD|CACNA2D4 | | |||||||
| Protein digestion and absorption | 81 | 3 | 0.36 | 8.23 | 0.0059 | 0.0168 | |
| COL11A1|COL9A1|COL2A1 | | |||||||
| Dilated cardiomyopathy | 90 | 3 | 0.40 | 7.41 | 0.0079 | 0.0190 | |
| CACNA1F|DMD|CACNA2D4 | | |||||||
| ABC transporters | 44 | 2 | 0.20 | 10.10 | 0.0168 | 0.0367 | |
| ABCA4|ABCC6 | | |||||||
WIKI pathway
| Term | Number of reference genes | Number of genes | Expecteed number | Ratio of enrichment | P-Value | Adjusted P-Value | Genes related |
|---|---|---|---|---|---|---|---|
| Vitamin A and carotenoid metabolism | 49 | 6 | 0.22 | 27.22 | 9.13e-08 | 1.00e-06 | |
| RBP4|RDH12|RPE65|LRAT|RDH5|RLBP | | |||||||
| ID signaling pathway | 15 | 2 | 0.07 | 29.64 | 0.0020 | 0.0110 | |
| RB1|PAX2 | | |||||||
| mRNA processing | 132 | 4 | 0.59 | 6.74 | 0.0031 | 0.0114 | |
| PRPF4|PRPF8|PRPF3|PRPF6 | | |||||||
| Arrhythmogenic right ventricular cardiomyopathy | 108 | 3 | 0.49 | 6.18 | 0.0130 | 0.0357 | |
| CACNA1F|DMD|CACNA2D4 | | |||||||