CEP170

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine nucleobase catabolic process (GO:0006208)4.65590928
2layer formation in cerebral cortex (GO:0021819)4.48348183
3dendrite morphogenesis (GO:0048813)4.40090676
4axonal fasciculation (GO:0007413)4.34524681
5cell migration in hindbrain (GO:0021535)4.28330846
6neuron cell-cell adhesion (GO:0007158)4.25787648
7establishment of mitochondrion localization (GO:0051654)4.24585170
8central nervous system projection neuron axonogenesis (GO:0021952)4.15452110
9neuron recognition (GO:0008038)3.97796621
10dendritic spine morphogenesis (GO:0060997)3.72740371
11locomotory exploration behavior (GO:0035641)3.62289696
12nucleobase catabolic process (GO:0046113)3.60248082
13regulation of short-term neuronal synaptic plasticity (GO:0048172)3.58057451
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.52015350
15establishment of nucleus localization (GO:0040023)3.51905125
16axon extension (GO:0048675)3.48823331
17establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.47762386
18mitochondrion transport along microtubule (GO:0047497)3.47762386
19cerebral cortex radially oriented cell migration (GO:0021799)3.34497448
20central nervous system neuron axonogenesis (GO:0021955)3.29336488
21synaptic vesicle maturation (GO:0016188)3.29240518
22vocalization behavior (GO:0071625)3.27966741
23protein localization to synapse (GO:0035418)3.21899857
24clathrin coat assembly (GO:0048268)3.21785564
25positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.10469388
26ganglion development (GO:0061548)3.09887113
27regulation of glutamate receptor signaling pathway (GO:1900449)3.08954810
28auditory behavior (GO:0031223)3.07485409
29neuron projection extension (GO:1990138)3.06216868
30exploration behavior (GO:0035640)3.05583730
31innervation (GO:0060384)3.01291268
32sympathetic nervous system development (GO:0048485)3.01262722
33positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.00762815
34membrane assembly (GO:0071709)2.97941130
35regulation of axon guidance (GO:1902667)2.97225223
36regulation of synapse structural plasticity (GO:0051823)2.96997373
37response to pheromone (GO:0019236)2.94977879
38cerebellar Purkinje cell differentiation (GO:0021702)2.94511537
39negative regulation of axon guidance (GO:1902668)2.94224918
40cerebellum development (GO:0021549)2.92608346
41retinal ganglion cell axon guidance (GO:0031290)2.92041744
42regulation of axon extension involved in axon guidance (GO:0048841)2.91184206
43postsynaptic membrane organization (GO:0001941)2.90621980
44negative regulation of dendrite development (GO:2000171)2.90306893
45positive regulation of synapse maturation (GO:0090129)2.89662191
46epithelial cell differentiation involved in kidney development (GO:0035850)2.89344934
47ionotropic glutamate receptor signaling pathway (GO:0035235)2.88553001
48axon extension involved in axon guidance (GO:0048846)2.88363192
49neuron projection extension involved in neuron projection guidance (GO:1902284)2.88363192
50cerebellar granule cell differentiation (GO:0021707)2.87978364
51presynaptic membrane assembly (GO:0097105)2.85499001
52positive regulation of dendritic spine morphogenesis (GO:0061003)2.84988785
53synaptic vesicle exocytosis (GO:0016079)2.83941296
54gamma-aminobutyric acid transport (GO:0015812)2.83933003
55negative regulation of axon extension involved in axon guidance (GO:0048843)2.83489822
56nerve growth factor signaling pathway (GO:0038180)2.82619074
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.82230410
58neuron migration (GO:0001764)2.78845563
59heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157)2.76267323
60regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.76201679
61negative regulation of axon extension (GO:0030517)2.75926947
62calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.75407682
63regulation of synaptic vesicle exocytosis (GO:2000300)2.74960880
64positive regulation of synapse assembly (GO:0051965)2.72625251
65spinal cord development (GO:0021510)2.72276099
66positive regulation of axon extension (GO:0045773)2.68961770
67olfactory bulb development (GO:0021772)2.68526542
68positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.68431460
69presynaptic membrane organization (GO:0097090)2.67753386
70regulation of NFAT protein import into nucleus (GO:0051532)2.67626156
71cranial nerve morphogenesis (GO:0021602)2.67558141
72regulation of axon extension (GO:0030516)2.66392519
73regulation of dendritic spine morphogenesis (GO:0061001)2.66191184
74cardiac ventricle formation (GO:0003211)2.65801813
75glutamate receptor signaling pathway (GO:0007215)2.63628510
76synapse assembly (GO:0007416)2.63043952
77nucleus localization (GO:0051647)2.61496171
78neuron-neuron synaptic transmission (GO:0007270)2.61288739
79response to auditory stimulus (GO:0010996)2.61018838
80regulation of synapse assembly (GO:0051963)2.60965376
81nuclear pore complex assembly (GO:0051292)2.59023034
82neurotransmitter-gated ion channel clustering (GO:0072578)2.58943139
83negative regulation of synaptic transmission, GABAergic (GO:0032229)2.57939278
84regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.57341423
85neural tube formation (GO:0001841)2.56797457
86axonogenesis (GO:0007409)2.56716783
87negative regulation of axonogenesis (GO:0050771)2.56597491
88neuron projection morphogenesis (GO:0048812)2.55671013
89positive regulation of dendrite morphogenesis (GO:0050775)2.55630681
90cytoplasmic mRNA processing body assembly (GO:0033962)2.55532651
91mechanosensory behavior (GO:0007638)2.54150702
92hippocampus development (GO:0021766)2.53605802
93regulation of extent of cell growth (GO:0061387)2.53531422
94synaptic vesicle endocytosis (GO:0048488)2.53207562
95cardiac chamber formation (GO:0003207)2.51600999
96regulation of synaptic transmission, glutamatergic (GO:0051966)2.51032375
97organelle transport along microtubule (GO:0072384)2.51009389
98proline transport (GO:0015824)2.50281203
99microtubule nucleation (GO:0007020)2.50111802
100neurofilament cytoskeleton organization (GO:0060052)2.48017456
101regulation of synapse organization (GO:0050807)2.47019683
102semaphorin-plexin signaling pathway (GO:0071526)2.46911366
103dendrite development (GO:0016358)2.46761954
104cell differentiation in hindbrain (GO:0021533)2.43958504
105nuclear pore organization (GO:0006999)2.43232905
106regulation of neuron migration (GO:2001222)2.42326601
107neuromuscular synaptic transmission (GO:0007274)2.40715760
108vesicle transport along microtubule (GO:0047496)2.40698354
109synapse organization (GO:0050808)2.40331613
110neuronal ion channel clustering (GO:0045161)2.39602143
111cytoskeleton-dependent intracellular transport (GO:0030705)2.39265273
112regulation of cAMP-dependent protein kinase activity (GO:2000479)2.39050602
113dendritic spine organization (GO:0097061)2.39032646
114positive regulation of dendritic spine development (GO:0060999)2.38405008
115positive regulation of cardiac muscle cell differentiation (GO:2000727)2.37400920
116homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156)2.37334469
117glutamate secretion (GO:0014047)2.36949205
118regulation of sarcomere organization (GO:0060297)2.36715583
119cerebral cortex cell migration (GO:0021795)2.36409768
120negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.36315895
121glial cell proliferation (GO:0014009)2.35224303
122synaptic transmission, glutamatergic (GO:0035249)2.34871812
123regulation of dendritic spine development (GO:0060998)2.32952486
124limb bud formation (GO:0060174)2.31572339
125stress granule assembly (GO:0034063)2.30902875
126regulation of synapse maturation (GO:0090128)2.30674437
127transmission of nerve impulse (GO:0019226)2.29362134
128regulation of respiratory system process (GO:0044065)2.29356184
129synaptic vesicle docking involved in exocytosis (GO:0016081)2.28332596
130negative chemotaxis (GO:0050919)2.28004837
131positive regulation of filopodium assembly (GO:0051491)2.28001517
132developmental cell growth (GO:0048588)2.27636533
133regulation of synaptic vesicle transport (GO:1902803)2.25597556
134regulation of excitatory postsynaptic membrane potential (GO:0060079)2.25053863

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.63018188
2* GBX2_23144817_ChIP-Seq_PC3_Human3.38429993
3ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.55240188
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.49688763
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.36801447
6SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.31226699
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.30307190
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.23998802
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.20954051
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.08566312
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.08566312
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.02413405
13PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.98809681
14BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.98101192
15RNF2_27304074_Chip-Seq_ESCs_Mouse1.96975436
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.96280229
17EED_16625203_ChIP-ChIP_MESCs_Mouse1.95067281
18DROSHA_22980978_ChIP-Seq_HELA_Human1.91344836
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.91311065
20AR_21572438_ChIP-Seq_LNCaP_Human1.91307963
21CTBP2_25329375_ChIP-Seq_LNCAP_Human1.90161493
22JARID2_20075857_ChIP-Seq_MESCs_Mouse1.90052331
23IGF1R_20145208_ChIP-Seq_DFB_Human1.89396224
24SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.85750477
25SALL1_21062744_ChIP-ChIP_HESCs_Human1.85510839
26RBPJ_22232070_ChIP-Seq_NCS_Mouse1.84710562
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.80578815
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.77784505
29* REST_21632747_ChIP-Seq_MESCs_Mouse1.76660672
30MTF2_20144788_ChIP-Seq_MESCs_Mouse1.75866879
31ZNF274_21170338_ChIP-Seq_K562_Hela1.74821198
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.74568299
33EZH2_27294783_Chip-Seq_ESCs_Mouse1.73939890
34RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.73329732
35* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.71495426
36SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.70445733
37SMAD_19615063_ChIP-ChIP_OVARY_Human1.69912160
38CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.69853866
39OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.63126380
40SUZ12_27294783_Chip-Seq_ESCs_Mouse1.60977951
41SMAD4_21799915_ChIP-Seq_A2780_Human1.60177024
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.55932034
43P300_19829295_ChIP-Seq_ESCs_Human1.55849757
44SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.55020051
45TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.52922412
46AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.52192495
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.50564266
48VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.50503969
49TAF15_26573619_Chip-Seq_HEK293_Human1.48885846
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.48552023
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.47829359
52ZNF217_24962896_ChIP-Seq_MCF-7_Human1.47186866
53ARNT_22903824_ChIP-Seq_MCF-7_Human1.45603281
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44457477
55AHR_22903824_ChIP-Seq_MCF-7_Human1.41601454
56STAT3_23295773_ChIP-Seq_U87_Human1.41106324
57EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.40934834
58RARB_27405468_Chip-Seq_BRAIN_Mouse1.37701069
59GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36623908
60UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.36517774
61CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35332549
62* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.35217281
63* SOX2_21211035_ChIP-Seq_LN229_Gbm1.34849553
64TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34645061
65POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.34645061
66EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.34088559
67TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33987582
68WT1_19549856_ChIP-ChIP_CCG9911_Human1.33686328
69CBP_20019798_ChIP-Seq_JUKART_Human1.32103246
70IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32103246
71RNF2_27304074_Chip-Seq_NSC_Mouse1.31013225
72TP53_16413492_ChIP-PET_HCT116_Human1.30562780
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.30486146
74YAP1_20516196_ChIP-Seq_MESCs_Mouse1.29993372
75TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28160612
76AR_25329375_ChIP-Seq_VCAP_Human1.28139369
77FUS_26573619_Chip-Seq_HEK293_Human1.27948210
78RING1B_27294783_Chip-Seq_NPCs_Mouse1.27245808
79KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.26640070
80HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.23064894
81REST_18959480_ChIP-ChIP_MESCs_Mouse1.22447326
82NR3C1_23031785_ChIP-Seq_PC12_Mouse1.21953252
83POU5F1_16153702_ChIP-ChIP_HESCs_Human1.21780007
84LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20380703
85ER_23166858_ChIP-Seq_MCF-7_Human1.20186032
86* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.20164516
87* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.19987974
88TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.19796719
89NR3C1_21868756_ChIP-Seq_MCF10A_Human1.19664919
90BMI1_23680149_ChIP-Seq_NPCS_Mouse1.19547717
91RING1B_27294783_Chip-Seq_ESCs_Mouse1.19382428
92* AR_19668381_ChIP-Seq_PC3_Human1.19167517
93TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19004588
94* JUN_21703547_ChIP-Seq_K562_Human1.18631251
95* TCF4_23295773_ChIP-Seq_U87_Human1.17937011
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.17788711
97KDM2B_26808549_Chip-Seq_REH_Human1.14075352
98* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.14003747
99* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.14003747
100WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13874908
101EWS_26573619_Chip-Seq_HEK293_Human1.13544008
102ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.13148213
103RUNX2_22187159_ChIP-Seq_PCA_Human1.13117559
104* E2F1_18555785_Chip-Seq_ESCs_Mouse1.09117990
105HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.08796524
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08625671
107DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.08228661
108* TP53_18474530_ChIP-ChIP_U2OS_Human1.06889686
109MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06790913
110TBX3_20139965_ChIP-Seq_MESCs_Mouse1.06623337
111FLI1_27457419_Chip-Seq_LIVER_Mouse1.06489487
112VDR_22108803_ChIP-Seq_LS180_Human1.06431339
113TBX3_20139965_ChIP-Seq_ESCs_Mouse1.06084340
114NANOG_18555785_Chip-Seq_ESCs_Mouse1.05697617
115SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.05016764
116FLI1_21867929_ChIP-Seq_TH2_Mouse1.04779187
117SMAD3_21741376_ChIP-Seq_ESCs_Human1.04259826
118P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03558219
119MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01314386
120TCF4_18268006_ChIP-ChIP_LS174T_Human0.99660607
121SOX9_26525672_Chip-Seq_HEART_Mouse0.98893705
122FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.97634176

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation4.56475021
2MP0004859_abnormal_synaptic_plasticity4.15574095
3MP0000778_abnormal_nervous_system3.15400754
4MP0003880_abnormal_central_pattern2.85801999
5MP0002822_catalepsy2.84465731
6MP0004270_analgesia2.77453411
7MP0005423_abnormal_somatic_nervous2.69928565
8MP0003635_abnormal_synaptic_transmissio2.57351572
9MP0002063_abnormal_learning/memory/cond2.26913412
10MP0002184_abnormal_innervation2.26855094
11MP0003787_abnormal_imprinting2.07174795
12MP0001299_abnormal_eye_distance/1.95867557
13MP0003122_maternal_imprinting1.91648030
14MP0002734_abnormal_mechanical_nocicepti1.89496438
15MP0004811_abnormal_neuron_physiology1.80698399
16MP0006276_abnormal_autonomic_nervous1.77631497
17MP0001968_abnormal_touch/_nociception1.76462942
18MP0009046_muscle_twitch1.74483147
19MP0002572_abnormal_emotion/affect_behav1.70917181
20MP0000955_abnormal_spinal_cord1.69596306
21MP0009745_abnormal_behavioral_response1.67948758
22MP0003121_genomic_imprinting1.66682721
23MP0002064_seizures1.63863295
24MP0009780_abnormal_chondrocyte_physiolo1.61710629
25MP0001486_abnormal_startle_reflex1.61474144
26MP0002735_abnormal_chemical_nociception1.57204931
27MP0002557_abnormal_social/conspecific_i1.54140413
28MP0002067_abnormal_sensory_capabilities1.47168229
29MP0005645_abnormal_hypothalamus_physiol1.45525971
30MP0002882_abnormal_neuron_morphology1.44790983
31MP0003861_abnormal_nervous_system1.44745299
32MP0003890_abnormal_embryonic-extraembry1.43260755
33MP0005623_abnormal_meninges_morphology1.43240887
34MP0002152_abnormal_brain_morphology1.41263603
35MP0002733_abnormal_thermal_nociception1.38579755
36MP0003385_abnormal_body_wall1.33347298
37MP0004858_abnormal_nervous_system1.33291284
38MP0000631_abnormal_neuroendocrine_gland1.33255021
39MP0002751_abnormal_autonomic_nervous1.32074822
40MP0005386_behavior/neurological_phenoty1.31619526
41MP0004924_abnormal_behavior1.31619526
42MP0001188_hyperpigmentation1.27974724
43MP0000537_abnormal_urethra_morphology1.27880195
44MP0001440_abnormal_grooming_behavior1.27492004
45MP0005187_abnormal_penis_morphology1.27274304
46MP0004742_abnormal_vestibular_system1.26754557
47MP0002272_abnormal_nervous_system1.18976773
48MP0002736_abnormal_nociception_after1.18217667
49MP0001970_abnormal_pain_threshold1.16060380
50MP0002102_abnormal_ear_morphology1.14620988
51MP0005171_absent_coat_pigmentation1.10652900
52MP0005257_abnormal_intraocular_pressure1.09638688
53MP0008569_lethality_at_weaning1.09628613
54MP0003755_abnormal_palate_morphology1.09057545
55MP0005248_abnormal_Harderian_gland1.08910626
56MP0002938_white_spotting1.08843398
57MP0004134_abnormal_chest_morphology1.06800762
58MP0001984_abnormal_olfaction1.06308485
59MP0003634_abnormal_glial_cell1.03311674
60MP0004885_abnormal_endolymph1.03235887
61MP0001502_abnormal_circadian_rhythm1.02147084
62MP0003942_abnormal_urinary_system1.00965260
63MP0001879_abnormal_lymphatic_vessel1.00903037
64MP0005499_abnormal_olfactory_system1.00613072
65MP0005394_taste/olfaction_phenotype1.00613072
66MP0002066_abnormal_motor_capabilities/c0.99586146
67MP0002116_abnormal_craniofacial_bone0.99512895
68MP0005503_abnormal_tendon_morphology0.99216678
69MP0000534_abnormal_ureter_morphology0.98817780
70MP0003937_abnormal_limbs/digits/tail_de0.98500706
71MP0005076_abnormal_cell_differentiation0.97844301
72MP0003221_abnormal_cardiomyocyte_apopto0.97149725
73MP0004133_heterotaxia0.96669129
74MP0008789_abnormal_olfactory_epithelium0.96435666
75MP0000015_abnormal_ear_pigmentation0.96028917
76MP0002177_abnormal_outer_ear0.95779684
77MP0009250_abnormal_appendicular_skeleto0.94985508
78MP0000733_abnormal_muscle_development0.94714359
79MP0002697_abnormal_eye_size0.94707004
80MP0002081_perinatal_lethality0.94397820
81MP0003935_abnormal_craniofacial_develop0.94095237
82MP0001529_abnormal_vocalization0.92748012
83MP0008438_abnormal_cutaneous_collagen0.92151467
84MP0003091_abnormal_cell_migration0.90171279
85MP0000566_synostosis0.89731659
86MP0000428_abnormal_craniofacial_morphol0.88673222
87MP0002752_abnormal_somatic_nervous0.88082588
88MP0002638_abnormal_pupillary_reflex0.87305133
89MP0001293_anophthalmia0.86860617
90MP0010368_abnormal_lymphatic_system0.84113232
91MP0000647_abnormal_sebaceous_gland0.83718848
92MP0001286_abnormal_eye_development0.83355981
93MP0003938_abnormal_ear_development0.82432242
94MP0005253_abnormal_eye_physiology0.82044311
95MP0008057_abnormal_DNA_replication0.81584637
96MP0000049_abnormal_middle_ear0.80741472
97MP0005391_vision/eye_phenotype0.80362996
98MP0003283_abnormal_digestive_organ0.79915520
99MP0000516_abnormal_urinary_system0.79812715
100MP0005367_renal/urinary_system_phenotyp0.79812715
101MP0004272_abnormal_basement_membrane0.79804258
102MP0002084_abnormal_developmental_patter0.79541903
103MP0001348_abnormal_lacrimal_gland0.78973870
104MP0003633_abnormal_nervous_system0.78269594
105MP0004142_abnormal_muscle_tone0.77745449
106MP0002092_abnormal_eye_morphology0.77520789
107MP0002233_abnormal_nose_morphology0.77507969
108MP0003632_abnormal_nervous_system0.77150186
109MP0003119_abnormal_digestive_system0.75401739
110MP0003631_nervous_system_phenotype0.75280721
111MP0001177_atelectasis0.74956736
112MP0003115_abnormal_respiratory_system0.74697984
113MP0003567_abnormal_fetal_cardiomyocyte0.74117907
114MP0002114_abnormal_axial_skeleton0.73449979
115MP0010352_gastrointestinal_tract_polyps0.72947484
116MP0008877_abnormal_DNA_methylation0.72746547
117MP0002909_abnormal_adrenal_gland0.72399126
118MP0005409_darkened_coat_color0.71089679
119MP0001943_abnormal_respiration0.70403654
120MP0002234_abnormal_pharynx_morphology0.68727229
121MP0004145_abnormal_muscle_electrophysio0.68627169
122MP0002896_abnormal_bone_mineralization0.67377908
123MP0005646_abnormal_pituitary_gland0.66574491
124MP0004233_abnormal_muscle_weight0.65290343
125MP0010030_abnormal_orbit_morphology0.64623701

Predicted human phenotypes

RankGene SetZ-score
1Aqueductal stenosis (HP:0002410)3.06277533
2Drooling (HP:0002307)2.96796368
3Excessive salivation (HP:0003781)2.96796368
4Short 4th metacarpal (HP:0010044)2.90826026
5Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.90826026
6Macroorchidism (HP:0000053)2.70373033
7Focal seizures (HP:0007359)2.62552747
8Abnormality of the corticospinal tract (HP:0002492)2.60127115
9Shallow orbits (HP:0000586)2.57762233
10Focal motor seizures (HP:0011153)2.51071785
11Progressive cerebellar ataxia (HP:0002073)2.48236430
12Inappropriate behavior (HP:0000719)2.39222248
13Abnormality of the lower motor neuron (HP:0002366)2.39209536
14Epileptic encephalopathy (HP:0200134)2.39061131
15Termporal pattern (HP:0011008)2.34183725
16Insidious onset (HP:0003587)2.34183725
17Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.33776527
18Broad-based gait (HP:0002136)2.31363940
19Supranuclear gaze palsy (HP:0000605)2.27174930
20Exotropia (HP:0000577)2.26204948
21Action tremor (HP:0002345)2.23263546
22Retinal dysplasia (HP:0007973)2.23142974
23Absent speech (HP:0001344)2.22677498
24Papilledema (HP:0001085)2.20147019
25Abnormality of the astrocytes (HP:0100707)2.18552946
26Astrocytoma (HP:0009592)2.18552946
27Genetic anticipation (HP:0003743)2.16986391
28Mutism (HP:0002300)2.16796250
29Medulloblastoma (HP:0002885)2.15766584
30Hepatoblastoma (HP:0002884)2.14304687
31Thyroid carcinoma (HP:0002890)2.11156422
32Cortical dysplasia (HP:0002539)2.11076092
33Heterotopia (HP:0002282)2.09391591
34Abnormality of the musculature of the pelvis (HP:0001469)2.08765954
35Abnormality of the hip-girdle musculature (HP:0001445)2.08765954
36Febrile seizures (HP:0002373)2.06200838
37Amyotrophic lateral sclerosis (HP:0007354)2.03895984
38Intestinal atresia (HP:0011100)2.03304724
39Hammertoe (HP:0001765)2.03118654
40Urinary bladder sphincter dysfunction (HP:0002839)2.02599644
41Gait imbalance (HP:0002141)2.00949860
42Akinesia (HP:0002304)2.00917812
43Truncal ataxia (HP:0002078)2.00283408
44Urinary urgency (HP:0000012)2.00015200
45Large earlobe (HP:0009748)1.98617278
46Pheochromocytoma (HP:0002666)1.98068510
47Abnormality of salivation (HP:0100755)1.96400372
48Lissencephaly (HP:0001339)1.96078681
49Abnormality of the 4th metacarpal (HP:0010012)1.95466706
50Open mouth (HP:0000194)1.95321722
51Hyperacusis (HP:0010780)1.95206422
52Ankle clonus (HP:0011448)1.94662233
53Neoplasm of the oral cavity (HP:0100649)1.94287966
54Agitation (HP:0000713)1.94134779
55Aplasia/Hypoplasia of the brainstem (HP:0007362)1.93878469
56Hypoplasia of the brainstem (HP:0002365)1.93878469
57Polymicrogyria (HP:0002126)1.92360621
58Papillary thyroid carcinoma (HP:0002895)1.90946496
59Widely spaced teeth (HP:0000687)1.90911605
60Elfin facies (HP:0004428)1.90590175
61Visual hallucinations (HP:0002367)1.90276339
62Volvulus (HP:0002580)1.89634143
63Obsessive-compulsive behavior (HP:0000722)1.89509453
64Wrist flexion contracture (HP:0001239)1.88442255
65Morphological abnormality of the middle ear (HP:0008609)1.88297123
66Abnormality of the labia minora (HP:0012880)1.88027032
67Intellectual disability, moderate (HP:0002342)1.87436593
68Megalencephaly (HP:0001355)1.86243564
69Protruding tongue (HP:0010808)1.85631675
70Limb dystonia (HP:0002451)1.85179624
71Pachygyria (HP:0001302)1.84860616
72Subacute progressive viral hepatitis (HP:0006572)1.84528209
73Sacral dimple (HP:0000960)1.83425623
74Degeneration of the lateral corticospinal tracts (HP:0002314)1.83291281
75Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.83291281
76Myokymia (HP:0002411)1.83002913
77Pointed chin (HP:0000307)1.82422186
78Pulmonic stenosis (HP:0001642)1.81640680
79EEG with generalized epileptiform discharges (HP:0011198)1.79694993
80Genital tract atresia (HP:0001827)1.79609312
81Spastic gait (HP:0002064)1.79071236
82Transitional cell carcinoma of the bladder (HP:0006740)1.77932923
83Renovascular hypertension (HP:0100817)1.77903619
84Buphthalmos (HP:0000557)1.76445054
85Absent frontal sinuses (HP:0002688)1.76204273
86Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.75375897
87Epileptiform EEG discharges (HP:0011182)1.74788173
88Inability to walk (HP:0002540)1.74615763
89Vaginal atresia (HP:0000148)1.74553135
90Disinhibition (HP:0000734)1.74433337
91Overriding aorta (HP:0002623)1.73642532
92Trigonocephaly (HP:0000243)1.73549354
93Failure to thrive in infancy (HP:0001531)1.73521458
94Hypsarrhythmia (HP:0002521)1.73520655
95Atonic seizures (HP:0010819)1.73083361
96Renal duplication (HP:0000075)1.72469038
97Bowel diverticulosis (HP:0005222)1.71961676
98Midline defect of the nose (HP:0004122)1.71827569
99Glioma (HP:0009733)1.71431351
100Hyperventilation (HP:0002883)1.70744247
101Hemiparesis (HP:0001269)1.70159560
102Aplasia/Hypoplasia of the sternum (HP:0006714)1.69685010
103Lower limb muscle weakness (HP:0007340)1.69438602
104Shoulder girdle muscle weakness (HP:0003547)1.69338737
105Flat cornea (HP:0007720)1.69098371
106Broad ribs (HP:0000885)1.68669712
107Impaired vibration sensation in the lower limbs (HP:0002166)1.68268990
108Vitreoretinal degeneration (HP:0000655)1.67919456
109Overgrowth (HP:0001548)1.67306415
110Neoplasm of the adrenal cortex (HP:0100641)1.67222740
111Cutaneous finger syndactyly (HP:0010554)1.67031566
112Generalized tonic-clonic seizures (HP:0002069)1.66552327
113Progressive inability to walk (HP:0002505)1.66430125
114Cutaneous syndactyly (HP:0012725)1.66079870
115Spastic tetraplegia (HP:0002510)1.65622412
116Lower limb amyotrophy (HP:0007210)1.64717213
117Blue irides (HP:0000635)1.64677965
118Absence seizures (HP:0002121)1.64648938
119Congenital primary aphakia (HP:0007707)1.64545010
120Asymmetry of the thorax (HP:0001555)1.64422439
121Uterine leiomyosarcoma (HP:0002891)1.64054902
122Leiomyosarcoma (HP:0100243)1.64054902
123Hypoplasia of the corpus callosum (HP:0002079)1.63675358
124Dialeptic seizures (HP:0011146)1.63334472
125Polyphagia (HP:0002591)1.63170791
126Amblyopia (HP:0000646)1.61186344
127Limb-girdle muscle weakness (HP:0003325)1.60691448
128Tented upper lip vermilion (HP:0010804)1.60400659
129Bladder carcinoma (HP:0002862)1.60168875
130Bladder neoplasm (HP:0009725)1.60168875
131Narrow palate (HP:0000189)1.58799459
132Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.58309890
133Paraplegia (HP:0010550)1.57791604
134Bladder diverticulum (HP:0000015)1.57066943
135Intellectual disability, severe (HP:0010864)1.56722716
136High anterior hairline (HP:0009890)1.56642398
137Peripheral hypomyelination (HP:0007182)1.56005935
138Specific learning disability (HP:0001328)1.55832481
139Neuroendocrine neoplasm (HP:0100634)1.55718324
140Esotropia (HP:0000565)1.55666705
141Sporadic (HP:0003745)1.55625805

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK16.53562372
2ERBB32.64626620
3NTRK22.53247376
4NTRK32.45317333
5MAP3K42.44076507
6MAPK132.21570950
7MAP3K92.20712338
8KSR12.17468676
9SIK22.14507185
10CASK2.02924888
11DYRK22.00762771
12MINK11.96369123
13CAMK1G1.95226139
14TRIM281.86105814
15FGFR21.78529132
16PAK61.78157171
17MAP2K71.68870676
18SIK31.45819775
19BCR1.44671752
20UHMK11.41765593
21TYRO31.40198407
22LATS11.32201101
23CAMK1D1.30335191
24CSNK1G21.29739438
25CCNB11.29424116
26PDGFRA1.27582646
27PNCK1.25063840
28PLK21.24919192
29CSNK1A1L1.24449121
30SRPK11.24005718
31DDR21.20367888
32CDK51.18209950
33PHKG11.16485637
34PHKG21.16485637
35ICK1.15364643
36PAK31.09757936
37TNIK1.08655290
38EPHB21.04591175
39PKN11.04081271
40MKNK21.03736909
41MARK21.01296224
42AKT31.00741116
43PRPF4B0.97859059
44DYRK30.96019778
45CSNK1G30.95682895
46RET0.94084259
47CAMKK10.92537294
48WNK30.91499401
49LATS20.89850724
50EPHA40.89564998
51FRK0.89360002
52MAP4K20.89297345
53SGK4940.88754130
54SGK2230.88754130
55PDGFRB0.88714397
56TIE10.86484339
57MKNK10.84815895
58CDK180.84509524
59NTRK10.82747404
60BRD40.81574403
61LIMK10.81040545
62DYRK1A0.80499914
63MAP2K40.78824616
64EPHA30.78743169
65DAPK20.77051658
66SGK20.76648241
67CDK140.75474095
68DMPK0.75344740
69CDK150.75320172
70CSNK1G10.74491545
71RPS6KA40.73430531
72PINK10.70068003
73FGFR10.69454077
74PLK40.69026519
75NUAK10.68436482
76STK38L0.67300693
77CAMKK20.65643049
78SGK10.63956553
79CDC42BPA0.63644330
80ROCK10.61099546
81SGK30.60972168
82PRKD30.60139974
83WNK10.59917016
84RIPK10.59708978
85CDK11A0.59642075
86PRKCG0.58806368
87PRKCZ0.57111820
88STK110.56909731
89RPS6KA20.56412393
90SCYL20.56370785
91FYN0.56150250
92ERBB20.55803812
93MAPK100.55378462
94NEK20.55320384
95INSRR0.54608523
96DYRK1B0.54343164
97CAMK2B0.53154170
98FER0.52629481
99PRKCH0.52244912
100FGR0.51141258
101YES10.51076684
102CLK10.50635182
103MAPK80.50387694
104FGFR30.50279459
105MAPK90.50254466
106ERBB40.48987102
107PRKCE0.48778588
108MAP3K20.46991695
109CAMK40.45942458
110CDC70.45166989
111TSSK60.44082455
112BMPR1B0.44045445
113CSNK1E0.43973850
114GSK3B0.43746145
115CDK30.43541762
116ATM0.42816468
117FLT30.41913950
118CAMK2A0.41686267
119CSNK1D0.41099708
120MAP3K60.40500748
121RPS6KA30.39787005
122MTOR0.39144117
123PAK20.38430048
124KSR20.37841203
125PRKDC0.36940556
126PRKG10.36785500
127CDK10.36435471
128PRKACB0.36088253
129ALK0.35871627
130EGFR0.35758308
131RAF10.30366733
132MAP3K50.27851218

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.17593976
2Axon guidance_Homo sapiens_hsa043602.11158442
3Circadian entrainment_Homo sapiens_hsa047131.76900671
4Glutamatergic synapse_Homo sapiens_hsa047241.70598616
5Morphine addiction_Homo sapiens_hsa050321.63226186
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.63163749
7Dopaminergic synapse_Homo sapiens_hsa047281.61698011
8GABAergic synapse_Homo sapiens_hsa047271.60953750
9Synaptic vesicle cycle_Homo sapiens_hsa047211.60674105
10Olfactory transduction_Homo sapiens_hsa047401.54310551
11Long-term potentiation_Homo sapiens_hsa047201.51830950
12Cholinergic synapse_Homo sapiens_hsa047251.50051599
13ErbB signaling pathway_Homo sapiens_hsa040121.44029694
14Colorectal cancer_Homo sapiens_hsa052101.41431118
15Type II diabetes mellitus_Homo sapiens_hsa049301.39982203
16Glioma_Homo sapiens_hsa052141.38122669
17Endometrial cancer_Homo sapiens_hsa052131.37332700
18Gap junction_Homo sapiens_hsa045401.36294961
19Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.34277638
20Long-term depression_Homo sapiens_hsa047301.33314005
21Serotonergic synapse_Homo sapiens_hsa047261.25309048
22Renal cell carcinoma_Homo sapiens_hsa052111.23869352
23Amphetamine addiction_Homo sapiens_hsa050311.23286012
24Cocaine addiction_Homo sapiens_hsa050301.23167786
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.23157271
26Renin secretion_Homo sapiens_hsa049241.22662176
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.19594304
28Oxytocin signaling pathway_Homo sapiens_hsa049211.18173869
29Dorso-ventral axis formation_Homo sapiens_hsa043201.17900170
30Insulin secretion_Homo sapiens_hsa049111.17285561
31Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.16062790
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.13697445
33Non-homologous end-joining_Homo sapiens_hsa034501.13556694
34Neurotrophin signaling pathway_Homo sapiens_hsa047221.13116618
35GnRH signaling pathway_Homo sapiens_hsa049121.11996882
36Estrogen signaling pathway_Homo sapiens_hsa049151.11844745
37Aldosterone synthesis and secretion_Homo sapiens_hsa049251.11794653
38Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.09476148
39Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.09451071
40Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.08479586
41Taste transduction_Homo sapiens_hsa047421.07984844
42Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.04422336
43mTOR signaling pathway_Homo sapiens_hsa041501.04161975
44Salivary secretion_Homo sapiens_hsa049701.03263993
45Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.01664674
46mRNA surveillance pathway_Homo sapiens_hsa030151.00243449
47Hedgehog signaling pathway_Homo sapiens_hsa043400.99624925
48Melanogenesis_Homo sapiens_hsa049160.99410921
49Wnt signaling pathway_Homo sapiens_hsa043100.99321258
50Chronic myeloid leukemia_Homo sapiens_hsa052200.99125262
51MicroRNAs in cancer_Homo sapiens_hsa052060.98904661
52Basal cell carcinoma_Homo sapiens_hsa052170.98327228
53Basal transcription factors_Homo sapiens_hsa030220.97003053
54Phototransduction_Homo sapiens_hsa047440.96027587
55Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.94497213
56Phosphatidylinositol signaling system_Homo sapiens_hsa040700.94154642
57Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.93802756
58MAPK signaling pathway_Homo sapiens_hsa040100.93224754
59Alcoholism_Homo sapiens_hsa050340.93180057
60Oocyte meiosis_Homo sapiens_hsa041140.93086201
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.92118381
62Hippo signaling pathway_Homo sapiens_hsa043900.91733038
63Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.91632300
64Pancreatic cancer_Homo sapiens_hsa052120.91090475
65Gastric acid secretion_Homo sapiens_hsa049710.91060523
66cAMP signaling pathway_Homo sapiens_hsa040240.90955051
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89378146
68Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.89108488
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.89089032
70Viral myocarditis_Homo sapiens_hsa054160.88861461
71Choline metabolism in cancer_Homo sapiens_hsa052310.87141971
72cGMP-PKG signaling pathway_Homo sapiens_hsa040220.85664181
73Dilated cardiomyopathy_Homo sapiens_hsa054140.85023049
74Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.84999105
75ECM-receptor interaction_Homo sapiens_hsa045120.84820244
76Steroid biosynthesis_Homo sapiens_hsa001000.83747987
77Proteoglycans in cancer_Homo sapiens_hsa052050.82584166
78Ras signaling pathway_Homo sapiens_hsa040140.82387258
79Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.81763253
80Non-small cell lung cancer_Homo sapiens_hsa052230.81252213
81Endocytosis_Homo sapiens_hsa041440.81209746
82Circadian rhythm_Homo sapiens_hsa047100.80884046
83Adherens junction_Homo sapiens_hsa045200.80428928
84Focal adhesion_Homo sapiens_hsa045100.79944478
85VEGF signaling pathway_Homo sapiens_hsa043700.79503037
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.78738776
87Sphingolipid signaling pathway_Homo sapiens_hsa040710.78009281
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77633478
89Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.77037753
90Calcium signaling pathway_Homo sapiens_hsa040200.76348350
91Rap1 signaling pathway_Homo sapiens_hsa040150.76103109
92Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76066929
93Melanoma_Homo sapiens_hsa052180.73965363
94Tight junction_Homo sapiens_hsa045300.69238920
95Regulation of actin cytoskeleton_Homo sapiens_hsa048100.69203971
96Prolactin signaling pathway_Homo sapiens_hsa049170.68793748
97Phagosome_Homo sapiens_hsa041450.67610086
98Pathways in cancer_Homo sapiens_hsa052000.67436715
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.67317659
100Salmonella infection_Homo sapiens_hsa051320.67227761
101Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66700449
102Chemokine signaling pathway_Homo sapiens_hsa040620.66378519
103Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66206046
104Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.66111923
105Prostate cancer_Homo sapiens_hsa052150.65666069
106Notch signaling pathway_Homo sapiens_hsa043300.65655911
107PI3K-Akt signaling pathway_Homo sapiens_hsa041510.65236309
108Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63686905
109Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.63302927
110AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.63227170
111Central carbon metabolism in cancer_Homo sapiens_hsa052300.62565328
112FoxO signaling pathway_Homo sapiens_hsa040680.61704500
113TGF-beta signaling pathway_Homo sapiens_hsa043500.60309073
114Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.60061746
115Cell cycle_Homo sapiens_hsa041100.59576488
116Insulin signaling pathway_Homo sapiens_hsa049100.59148831
117Carbohydrate digestion and absorption_Homo sapiens_hsa049730.58299188
118Vascular smooth muscle contraction_Homo sapiens_hsa042700.58074820

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