Homo sapiens

104 known processes

CEP290

centrosomal protein 290kDa

(Aliases: POC3,NPHP6,rd16,JBTS5,JBTS6,3H11Ag,KIAA0373,LCA10,FLJ13615,BBS14,FLJ21979,SLSN6,CT87,MKS4)

CEP290 biological process predictions


Filter by process size:
Biological process GO term ID Process size Probability Func Analog Org
intraciliary transport GO:0042073 7 0.257
cilium morphogenesis GO:0060271 75 0.142
cilium assembly GO:0042384 63 0.140
cilium organization GO:0044782 68 0.091
organelle assembly GO:0070925 176 0.066
post embryonic development GO:0009791 2 0.051
retina homeostasis GO:0001895 42 0.050
microtubule based process GO:0007017 210 0.044
cell morphogenesis GO:0000902 296 0.043
photoreceptor cell maintenance GO:0045494 13 0.043
segmentation GO:0035282 4 0.040
cell projection assembly GO:0030031 126 0.033
anatomical structure formation involved in morphogenesis GO:0048646 284 0.032
axis elongation GO:0003401 4 0.030
tissue homeostasis GO:0001894 63 0.027
cellular response to dna damage stimulus GO:0006974 379 0.027
cell projection organization GO:0030030 252 0.027
regulation of cell cycle GO:0051726 393 0.026
cellular amino acid metabolic process GO:0006520 116 0.026
microtubule cytoskeleton organization GO:0000226 176 0.025
regulation of cytokinesis GO:0032465 45 0.025
amine metabolic process GO:0009308 44 0.025
regulation of cell motility GO:2000145 299 0.024
regulation of microtubule based process GO:0032886 74 0.024
cell division GO:0051301 168 0.024
sensory perception of smell GO:0007608 2 0.024
microtubule organizing center organization GO:0031023 62 0.024
anatomical structure homeostasis GO:0060249 100 0.023
proteolysis involved in cellular protein catabolic process GO:0051603 244 0.023
positive regulation of transport GO:0051050 336 0.022
protein modification by small protein conjugation GO:0032446 342 0.022
multicellular organismal homeostasis GO:0048871 67 0.022
negative regulation of cell differentiation GO:0045596 171 0.022
regulation of cell division GO:0051302 116 0.021
negative regulation of developmental process GO:0051093 247 0.021
regulation of cell cycle process GO:0010564 266 0.021
protein localization to organelle GO:0033365 280 0.021
purine containing compound catabolic process GO:0072523 411 0.021
transmembrane transport GO:0055085 399 0.021
cellular ketone metabolic process GO:0042180 80 0.021
spermatid differentiation GO:0048515 4 0.020
cell part morphogenesis GO:0032990 137 0.020
regulation of cellular amino acid metabolic process GO:0006521 6 0.020
cellular amine metabolic process GO:0044106 41 0.020
regulation of locomotion GO:0040012 329 0.020
microtubule based movement GO:0007018 32 0.020
regulation of cellular amine metabolic process GO:0033238 11 0.020
regulation of organelle assembly GO:1902115 40 0.019
maintenance of location GO:0051235 112 0.019
centrosome organization GO:0051297 58 0.019
positive regulation of cellular amino acid metabolic process GO:0045764 3 0.019
response to abiotic stimulus GO:0009628 336 0.019
regulation of cell differentiation GO:0045595 393 0.019
protein localization to cytoskeleton GO:0044380 11 0.019
female gamete generation GO:0007292 2 0.019
vesicle mediated transport GO:0016192 371 0.018
neurogenesis GO:0022008 169 0.018
cellular component morphogenesis GO:0032989 314 0.018
cytoplasmic transport GO:0016482 379 0.018
negative regulation of catalytic activity GO:0043086 335 0.017
negative regulation of programmed cell death GO:0043069 321 0.017
purine nucleotide catabolic process GO:0006195 405 0.017
nucleoside catabolic process GO:0009164 408 0.017
determination of adult lifespan GO:0008340 2 0.017
purine ribonucleoside triphosphate metabolic process GO:0009205 411 0.017
organophosphate catabolic process GO:0046434 430 0.016
regulation of intracellular transport GO:0032386 195 0.016
proteasomal protein catabolic process GO:0010498 176 0.016
nucleocytoplasmic transport GO:0006913 176 0.016
actin filament based process GO:0030029 224 0.016
oogenesis GO:0048477 2 0.016
negative regulation of cellular protein metabolic process GO:0032269 353 0.016
negative regulation of protein metabolic process GO:0051248 391 0.016
negative regulation of cell cycle process GO:0010948 121 0.016
regulation of dna metabolic process GO:0051052 153 0.015
ribonucleotide catabolic process GO:0009261 405 0.015
photoreceptor cell differentiation GO:0046530 2 0.015
cell projection morphogenesis GO:0048858 129 0.015
cellular component assembly involved in morphogenesis GO:0010927 73 0.015
protein processing GO:0016485 226 0.015
embryonic epithelial tube formation GO:0001838 4 0.015
positive regulation of cellular amine metabolic process GO:0033240 7 0.015
regulation of cytoskeleton organization GO:0051493 177 0.015
regeneration GO:0031099 4 0.015
nervous system development GO:0007399 293 0.015
positive regulation of programmed cell death GO:0043068 249 0.015
chemical homeostasis GO:0048878 306 0.015
nucleoside phosphate catabolic process GO:1901292 412 0.015
regulation of cell migration GO:0030334 289 0.015
positive regulation of cellular catabolic process GO:0031331 284 0.015
nucleotide catabolic process GO:0009166 408 0.015
ribonucleoside triphosphate metabolic process GO:0009199 412 0.015
protein catabolic process GO:0030163 325 0.015
regulation of cell morphogenesis GO:0022604 153 0.015
regulation of proteolysis GO:0030162 293 0.014
purine nucleoside triphosphate catabolic process GO:0009146 392 0.014
spermatid development GO:0007286 4 0.014
positive regulation of intracellular protein transport GO:0090316 76 0.014
circulatory system development GO:0072359 262 0.014
inner ear morphogenesis GO:0042472 4 0.014
positive regulation of developmental process GO:0051094 314 0.014
notch signaling pathway GO:0007219 31 0.014
purine ribonucleoside triphosphate catabolic process GO:0009207 391 0.014
purine nucleoside catabolic process GO:0006152 398 0.014
morphogenesis of embryonic epithelium GO:0016331 4 0.014
response to radiation GO:0009314 151 0.014
positive regulation of catabolic process GO:0009896 310 0.014
enzyme linked receptor protein signaling pathway GO:0007167 303 0.014
nucleoside triphosphate metabolic process GO:0009141 422 0.014
ribonucleoside catabolic process GO:0042454 406 0.014
negative regulation of multicellular organismal process GO:0051241 317 0.014
regulation of anatomical structure morphogenesis GO:0022603 286 0.014
regulation of transcription during mitosis GO:0045896 2 0.013
nerve development GO:0021675 4 0.013
ribonucleoside triphosphate catabolic process GO:0009203 391 0.013
purine ribonucleoside catabolic process GO:0046130 398 0.013
regulation of cellular component movement GO:0051270 334 0.013
purine ribonucleotide catabolic process GO:0009154 404 0.013
lipid metabolic process GO:0006629 381 0.013
regulation of protein localization GO:0032880 296 0.013
cellular response to cytokine stimulus GO:0071345 181 0.013
cellular protein catabolic process GO:0044257 261 0.013
single organism cellular localization GO:1902580 332 0.013
purine ribonucleoside metabolic process GO:0046128 437 0.013
regulation of protein catabolic process GO:0042176 155 0.013
cell proliferation in forebrain GO:0021846 1 0.013
purine nucleoside triphosphate metabolic process GO:0009144 412 0.013
regulation of transcription from rna polymerase ii promoter mitotic GO:0046021 1 0.013
mitotic cell cycle GO:0000278 326 0.012
positive regulation of cell death GO:0010942 263 0.012
cytokinesis GO:0000910 96 0.012
regulation of transmembrane receptor protein serine threonine kinase signaling pathway GO:0090092 90 0.012
regulation of bmp signaling pathway GO:0030510 27 0.012
epithelium development GO:0060429 227 0.012
ion homeostasis GO:0050801 230 0.012
negative regulation of transcription from rna polymerase ii promoter GO:0000122 281 0.012
cytoskeleton dependent intracellular transport GO:0030705 21 0.012
protein maturation GO:0051604 233 0.012
regulation of intracellular protein transport GO:0033157 123 0.012
locomotory behavior GO:0007626 1 0.012
purine nucleoside monophosphate metabolic process GO:0009126 186 0.012
negative regulation of cellular amine metabolic process GO:0033239 3 0.012
positive regulation of hydrolase activity GO:0051345 331 0.012
transmembrane receptor protein serine threonine kinase signaling pathway GO:0007178 125 0.012
positive regulation of transmembrane receptor protein serine threonine kinase signaling pathway GO:0090100 41 0.012
intracellular protein transport GO:0006886 270 0.012
posttranscriptional regulation of gene expression GO:0010608 213 0.012
regulation of cellular ketone metabolic process GO:0010565 50 0.012
positive regulation of transcription during mitosis GO:0045897 2 0.012
immune response GO:0006955 307 0.012
nucleoside triphosphate catabolic process GO:0009143 394 0.012
regulation of cellular component biogenesis GO:0044087 281 0.012
nitrogen compound transport GO:0071705 191 0.011
positive regulation of cellular component biogenesis GO:0044089 158 0.011
mapk cascade GO:0000165 288 0.011
actin cytoskeleton organization GO:0030036 207 0.011
nuclear transport GO:0051169 179 0.011
modification dependent protein catabolic process GO:0019941 209 0.011
protein targeting GO:0006605 187 0.011
regulation of cytoplasmic transport GO:1903649 149 0.011
negative regulation of cell cycle GO:0045786 193 0.011
wnt signaling pathway GO:0016055 156 0.011
negative regulation of cellular amino acid metabolic process GO:0045763 2 0.011
positive regulation of phosphorylation GO:0042327 394 0.011
convergent extension GO:0060026 1 0.011
negative regulation of cell death GO:0060548 345 0.011
positive regulation of protein transport GO:0051222 135 0.011
cell development GO:0048468 328 0.011
neural tube formation GO:0001841 3 0.011
regulation of response to external stimulus GO:0032101 222 0.011
regulation of purine nucleotide metabolic process GO:1900542 264 0.011
sequestering of metal ion GO:0051238 24 0.011
cellular macromolecule catabolic process GO:0044265 380 0.011
positive regulation of intracellular transport GO:0032388 104 0.011
symbiosis encompassing mutualism through parasitism GO:0044403 156 0.011
biological adhesion GO:0022610 331 0.011
response to cytokine GO:0034097 232 0.011
negative regulation of cell proliferation GO:0008285 228 0.011
negative regulation of hydrolase activity GO:0051346 182 0.011
positive regulation of cellular component organization GO:0051130 376 0.011
cell growth GO:0016049 160 0.011
cellular response to endogenous stimulus GO:0071495 336 0.011
proteasome mediated ubiquitin dependent protein catabolic process GO:0043161 156 0.010
organelle localization GO:0051640 84 0.010
glycosyl compound catabolic process GO:1901658 413 0.010
regulation of cellular response to stress GO:0080135 244 0.010
purine ribonucleoside monophosphate metabolic process GO:0009167 186 0.010
sequestering of calcium ion GO:0051208 17 0.010
cellular homeostasis GO:0019725 196 0.010
negative regulation of protein modification process GO:0031400 200 0.010
positive regulation of cell cycle process GO:0090068 106 0.010
modification dependent macromolecule catabolic process GO:0043632 212 0.010
neuromuscular junction development GO:0007528 3 0.010
response to axon injury GO:0048678 1 0.010
defense response GO:0006952 315 0.010
negative regulation of phosphorus metabolic process GO:0010563 267 0.010
primary neural tube formation GO:0014020 3 0.010
regulation of nucleotide metabolic process GO:0006140 269 0.010
regulation of cell cycle phase transition GO:1901987 126 0.010
release of cytoplasmic sequestered nf kappab GO:0008588 4 0.010
innate immune response GO:0045087 178 0.010
atp metabolic process GO:0046034 176 0.010
apoptotic signaling pathway GO:0097190 268 0.010
sensory perception GO:0007600 103 0.010
maintenance of location in cell GO:0051651 62 0.010
cranial nerve development GO:0021545 4 0.010
negative regulation of apoptotic process GO:0043066 316 0.010
regulation of establishment of protein localization GO:0070201 242 0.010

CEP290 disease predictions

Disease DO term ID Size Probability Func Analog Org
disease of cellular proliferation DOID:14566 174 0.031
nephronophthisis DOID:12712 13 0.030
sensory system disease DOID:0050155 203 0.030
nervous system disease DOID:863 431 0.030
cancer DOID:162 167 0.022
organ system cancer DOID:0050686 164 0.022
musculoskeletal system disease DOID:17 223 0.015
retinal disease DOID:5679 118 0.013
eye and adnexa disease DOID:1492 150 0.013
eye disease DOID:5614 149 0.013
central nervous system disease DOID:331 186 0.013
immune system disease DOID:2914 155 0.011
joubert syndrome DOID:0050777 18 0.008
meckel syndrome DOID:0050778 11 0.003
leber congenital amaurosis DOID:14791 16 0.002
senior loken syndrome DOID:0050576 5 0.001