C5ORF42

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 protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.67705887
2interkinetic nuclear migration (GO:0022027)3.52379638
3cilium or flagellum-dependent cell motility (GO:0001539)3.50903086
4nucleus localization (GO:0051647)3.32896879
5presynaptic membrane assembly (GO:0097105)3.25517465
6cilium movement (GO:0003341)3.22186431
7negative regulation of cytosolic calcium ion concentration (GO:0051481)3.18854506
8establishment of nucleus localization (GO:0040023)3.10910032
9intraciliary transport (GO:0042073)3.08506599
10limb development (GO:0060173)3.06155416
11appendage development (GO:0048736)3.06155416
12neural tube formation (GO:0001841)3.01705405
13epithelial cilium movement (GO:0003351)3.00442275
14cilium organization (GO:0044782)2.98046970
15dorsal/ventral axis specification (GO:0009950)2.96125662
16negative regulation of neurotransmitter transport (GO:0051589)2.96067874
17cilium assembly (GO:0042384)2.95624737
18regulation of pigment cell differentiation (GO:0050932)2.92508539
19establishment of protein localization to Golgi (GO:0072600)2.92483496
20presynaptic membrane organization (GO:0097090)2.92481458
21mitotic sister chromatid cohesion (GO:0007064)2.92480115
22pericardium development (GO:0060039)2.89769892
23negative regulation of translation, ncRNA-mediated (GO:0040033)2.86990308
24regulation of translation, ncRNA-mediated (GO:0045974)2.86990308
25negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.86990308
26nonmotile primary cilium assembly (GO:0035058)2.86231847
27regulation of hippo signaling (GO:0035330)2.85358489
28response to pheromone (GO:0019236)2.76273998
29microtubule anchoring (GO:0034453)2.76035124
30central nervous system neuron axonogenesis (GO:0021955)2.75579595
31monoubiquitinated protein deubiquitination (GO:0035520)2.74945713
32cilium morphogenesis (GO:0060271)2.72748697
33axoneme assembly (GO:0035082)2.69771719
34regulation of establishment of cell polarity (GO:2000114)2.65379238
35photoreceptor cell maintenance (GO:0045494)2.62434639
36cyclic nucleotide catabolic process (GO:0009214)2.60348215
37cAMP catabolic process (GO:0006198)2.59058446
38pyrimidine nucleobase catabolic process (GO:0006208)2.58228133
39cellular component assembly involved in morphogenesis (GO:0010927)2.57064563
40behavioral response to ethanol (GO:0048149)2.55971229
41gamma-aminobutyric acid transport (GO:0015812)2.53815663
42central nervous system projection neuron axonogenesis (GO:0021952)2.53507551
43retinal cone cell development (GO:0046549)2.51841095
44left/right axis specification (GO:0070986)2.48713131
45fibroblast migration (GO:0010761)2.48280203
46retina layer formation (GO:0010842)2.46709662
47regulation of DNA endoreduplication (GO:0032875)2.45154759
48phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.44195571
49snRNA transcription (GO:0009301)2.43697818
50negative regulation of neurotransmitter secretion (GO:0046929)2.40990965
51positive regulation of developmental pigmentation (GO:0048087)2.40230836
52regulation of sarcomere organization (GO:0060297)2.39805097
53reflex (GO:0060004)2.39679997
54cerebral cortex radially oriented cell migration (GO:0021799)2.39581034
55serotonin metabolic process (GO:0042428)2.38505838
56atrial cardiac muscle cell action potential (GO:0086014)2.37634466
57behavioral response to nicotine (GO:0035095)2.35772869
58detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.34979501
59nucleobase catabolic process (GO:0046113)2.34566380
60retinal ganglion cell axon guidance (GO:0031290)2.33198847
61genitalia morphogenesis (GO:0035112)2.33076252
62mechanosensory behavior (GO:0007638)2.31938964
63prenylation (GO:0097354)2.30479232
64protein prenylation (GO:0018342)2.30479232
65retinal rod cell development (GO:0046548)2.30299376
66retrograde transport, vesicle recycling within Golgi (GO:0000301)2.29848628
67regulation of establishment or maintenance of cell polarity (GO:0032878)2.29610922
68protein targeting to Golgi (GO:0000042)2.29456084
69phospholipid translocation (GO:0045332)2.28825844
70lipid translocation (GO:0034204)2.28825844
71regulation of centriole replication (GO:0046599)2.28491507
72replication fork processing (GO:0031297)2.28475897
73postsynaptic membrane organization (GO:0001941)2.27913586
74embryonic retina morphogenesis in camera-type eye (GO:0060059)2.27736671
75axonal fasciculation (GO:0007413)2.27450355
76indolalkylamine metabolic process (GO:0006586)2.26030421
77cytoplasmic mRNA processing body assembly (GO:0033962)2.25405402
78protein localization to cilium (GO:0061512)2.24751919
79olfactory bulb development (GO:0021772)2.22465590
80regulation of centrosome duplication (GO:0010824)2.21459758
81auditory behavior (GO:0031223)2.21397358
82embryonic foregut morphogenesis (GO:0048617)2.21236047
83limb bud formation (GO:0060174)2.21070057
84G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.20009023
85centriole replication (GO:0007099)2.19633963
86smoothened signaling pathway (GO:0007224)2.18325886
87ventricular system development (GO:0021591)2.18311838
88brain morphogenesis (GO:0048854)2.18065185
89primary amino compound metabolic process (GO:1901160)2.17697884
90regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.16304715
91regulation of non-canonical Wnt signaling pathway (GO:2000050)2.16201039
92spinal cord motor neuron differentiation (GO:0021522)2.15417327
93negative regulation of dendrite development (GO:2000171)2.14922163
94protein K11-linked deubiquitination (GO:0035871)2.14412719
95positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.14193335
96pancreas development (GO:0031016)2.13355920
97neuron recognition (GO:0008038)2.12429522
98Golgi to endosome transport (GO:0006895)2.10938150
99sister chromatid cohesion (GO:0007062)2.10636129
100cerebral cortex cell migration (GO:0021795)2.10222288

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.53522743
2SALL1_21062744_ChIP-ChIP_HESCs_Human3.25706860
3CEBPD_23245923_ChIP-Seq_MEFs_Mouse3.05498399
4ZFP57_27257070_Chip-Seq_ESCs_Mouse2.81666783
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.77779505
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.63202112
7TAF15_26573619_Chip-Seq_HEK293_Human2.57856041
8FUS_26573619_Chip-Seq_HEK293_Human2.44918547
9ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.41610728
10* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.32911433
11SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.30146679
12BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.22728108
13IGF1R_20145208_ChIP-Seq_DFB_Human2.20924576
14* PIAS1_25552417_ChIP-Seq_VCAP_Human2.18995426
15ZNF274_21170338_ChIP-Seq_K562_Hela2.14370885
16* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13696777
17SMAD4_21799915_ChIP-Seq_A2780_Human2.11774712
18P300_19829295_ChIP-Seq_ESCs_Human2.11169192
19PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.05770101
20EWS_26573619_Chip-Seq_HEK293_Human2.04476014
21EZH2_22144423_ChIP-Seq_EOC_Human1.97397912
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.95048610
23VDR_22108803_ChIP-Seq_LS180_Human1.94155613
24* STAT3_23295773_ChIP-Seq_U87_Human1.91804817
25MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.82973054
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.77907133
27FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.75098424
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75067923
29SMAD3_21741376_ChIP-Seq_EPCs_Human1.73268636
30SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.71857141
31OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.70422678
32CDX2_19796622_ChIP-Seq_MESCs_Mouse1.68355629
33TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.66450310
34* TCF4_23295773_ChIP-Seq_U87_Human1.65032769
35SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.64962430
36ER_23166858_ChIP-Seq_MCF-7_Human1.60590415
37NR3C1_21868756_ChIP-Seq_MCF10A_Human1.60515503
38ZNF217_24962896_ChIP-Seq_MCF-7_Human1.55762544
39TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.55009671
40TOP2B_26459242_ChIP-Seq_MCF-7_Human1.54410724
41* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.51940571
42* AR_25329375_ChIP-Seq_VCAP_Human1.50341832
43TP53_16413492_ChIP-PET_HCT116_Human1.50043550
44BCAT_22108803_ChIP-Seq_LS180_Human1.48271805
45PCGF2_27294783_Chip-Seq_ESCs_Mouse1.48182066
46NANOG_18555785_Chip-Seq_ESCs_Mouse1.48067362
47IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.47136100
48CBP_20019798_ChIP-Seq_JUKART_Human1.47136100
49AHR_22903824_ChIP-Seq_MCF-7_Human1.46893211
50TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46864542
51POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.46864542
52ARNT_22903824_ChIP-Seq_MCF-7_Human1.42429787
53RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39087294
54AR_21572438_ChIP-Seq_LNCaP_Human1.38314777
55* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.37552109
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37082082
57EZH2_27294783_Chip-Seq_NPCs_Mouse1.36145895
58CBX2_27304074_Chip-Seq_ESCs_Mouse1.33786736
59EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.33687449
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.33378554
61PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.31374059
62* RUNX2_22187159_ChIP-Seq_PCA_Human1.31126132
63NRF2_20460467_ChIP-Seq_MEFs_Mouse1.30359293
64NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.30359293
65TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29429795
66HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.27617883
67SOX2_21211035_ChIP-Seq_LN229_Gbm1.27299769
68E2F1_18555785_Chip-Seq_ESCs_Mouse1.25833919
69RNF2_27304074_Chip-Seq_NSC_Mouse1.25101266
70* TCF4_22108803_ChIP-Seq_LS180_Human1.25030147
71PCGF2_27294783_Chip-Seq_NPCs_Mouse1.23443602
72STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.23332012
73RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23116926
74TP53_18474530_ChIP-ChIP_U2OS_Human1.22954230
75TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22318571
76FLI1_21867929_ChIP-Seq_TH2_Mouse1.22026777
77P53_22387025_ChIP-Seq_ESCs_Mouse1.20374063
78KLF5_20875108_ChIP-Seq_MESCs_Mouse1.20112645
79CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18854765
80NFE2_27457419_Chip-Seq_LIVER_Mouse1.18230820
81EP300_21415370_ChIP-Seq_HL-1_Mouse1.14219429
82CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.14187362
83CMYC_18555785_Chip-Seq_ESCs_Mouse1.13143544
84CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.12714478
85* CJUN_26792858_Chip-Seq_BT549_Human1.11077431
86TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.10559011
87KDM2B_26808549_Chip-Seq_REH_Human1.09082819
88SMAD4_21741376_ChIP-Seq_EPCs_Human1.08488898
89SUZ12_18555785_Chip-Seq_ESCs_Mouse1.07872171
90LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07412619
91CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06519690
92CTNNB1_20460455_ChIP-Seq_HCT116_Human1.06497832
93PRDM14_20953172_ChIP-Seq_ESCs_Human1.05846637
94RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.05224291
95* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04718699
96MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04022885
97ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.03333778
98NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02895253
99SOX9_26525672_Chip-Seq_HEART_Mouse1.02762790
100CRX_20693478_ChIP-Seq_RETINA_Mouse1.01423075

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation4.28016984
2MP0008057_abnormal_DNA_replication2.99547804
3MP0003890_abnormal_embryonic-extraembry2.22261076
4MP0009046_muscle_twitch2.06180753
5MP0003880_abnormal_central_pattern2.04160507
6MP0000383_abnormal_hair_follicle1.88086476
7MP0008877_abnormal_DNA_methylation1.83357259
8MP0005551_abnormal_eye_electrophysiolog1.79748094
9MP0000778_abnormal_nervous_system1.77851579
10MP0002102_abnormal_ear_morphology1.76567064
11MP0001984_abnormal_olfaction1.72448369
12MP0003950_abnormal_plasma_membrane1.68831548
13MP0003787_abnormal_imprinting1.68828513
14MP0003937_abnormal_limbs/digits/tail_de1.65889061
15MP0009780_abnormal_chondrocyte_physiolo1.65281458
16MP0000427_abnormal_hair_cycle1.64220509
17MP0005253_abnormal_eye_physiology1.60356018
18MP0002736_abnormal_nociception_after1.53924320
19MP0006072_abnormal_retinal_apoptosis1.50697263
20MP0001968_abnormal_touch/_nociception1.47880244
21MP0005646_abnormal_pituitary_gland1.46971214
22MP0005187_abnormal_penis_morphology1.44569519
23MP0006276_abnormal_autonomic_nervous1.43889352
24MP0001486_abnormal_startle_reflex1.43628999
25MP0004145_abnormal_muscle_electrophysio1.41547250
26MP0002638_abnormal_pupillary_reflex1.38979594
27MP0002938_white_spotting1.36036906
28MP0000631_abnormal_neuroendocrine_gland1.33818227
29MP0001299_abnormal_eye_distance/1.33437676
30MP0010678_abnormal_skin_adnexa1.30290409
31MP0004043_abnormal_pH_regulation1.28227368
32MP0003646_muscle_fatigue1.26744879
33MP0009745_abnormal_behavioral_response1.24107906
34MP0003136_yellow_coat_color1.23491249
35MP0002184_abnormal_innervation1.22689686
36MP0004924_abnormal_behavior1.22303153
37MP0005386_behavior/neurological_phenoty1.22303153
38MP0002233_abnormal_nose_morphology1.21966536
39MP0002272_abnormal_nervous_system1.21102210
40MP0005645_abnormal_hypothalamus_physiol1.17772203
41MP0005174_abnormal_tail_pigmentation1.17416655
42MP0003195_calcinosis1.17238521
43MP0004270_analgesia1.14237582
44MP0002168_other_aberrant_phenotype1.13130779
45MP0005171_absent_coat_pigmentation1.13029088
46MP0002557_abnormal_social/conspecific_i1.12022977
47MP0002572_abnormal_emotion/affect_behav1.11688176
48MP0002734_abnormal_mechanical_nocicepti1.11080799
49MP0003635_abnormal_synaptic_transmissio1.10736854
50MP0005423_abnormal_somatic_nervous1.10185139
51MP0000955_abnormal_spinal_cord1.10088500
52MP0002009_preneoplasia1.09390420
53MP0000516_abnormal_urinary_system1.09207749
54MP0005367_renal/urinary_system_phenotyp1.09207749
55MP0005503_abnormal_tendon_morphology1.06568359
56MP0004215_abnormal_myocardial_fiber1.05996166
57MP0003045_fibrosis1.04959012
58MP0003121_genomic_imprinting1.04887120
59MP0003935_abnormal_craniofacial_develop1.04385574
60MP0004142_abnormal_muscle_tone1.03562940
61MP0010386_abnormal_urinary_bladder1.02253504
62MP0001485_abnormal_pinna_reflex1.02160810
63MP0001501_abnormal_sleep_pattern1.01947969
64MP0006054_spinal_hemorrhage1.01193953
65MP0002067_abnormal_sensory_capabilities1.00548699
66MP0000647_abnormal_sebaceous_gland1.00303172
67MP0004133_heterotaxia1.00252242
68MP0002234_abnormal_pharynx_morphology0.99848798
69MP0002160_abnormal_reproductive_system0.98785552
70MP0002064_seizures0.97571517
71MP0002837_dystrophic_cardiac_calcinosis0.97328912
72MP0000372_irregular_coat_pigmentation0.95713728
73MP0003755_abnormal_palate_morphology0.94916022
74MP0005391_vision/eye_phenotype0.94534168
75MP0002882_abnormal_neuron_morphology0.94213532
76MP0004859_abnormal_synaptic_plasticity0.93914310
77MP0002063_abnormal_learning/memory/cond0.93338630
78MP0004134_abnormal_chest_morphology0.90793852
79MP0002928_abnormal_bile_duct0.90517254
80MP0002752_abnormal_somatic_nervous0.90174302
81MP0005195_abnormal_posterior_eye0.89307451
82MP0002735_abnormal_chemical_nociception0.88389775
83MP0000428_abnormal_craniofacial_morphol0.88047581
84MP0003385_abnormal_body_wall0.87305893
85MP0002108_abnormal_muscle_morphology0.85928364
86MP0004085_abnormal_heartbeat0.84713358
87MP0002109_abnormal_limb_morphology0.83864986
88MP0009703_decreased_birth_body0.83831329
89MP0009250_abnormal_appendicular_skeleto0.83015380
90MP0002751_abnormal_autonomic_nervous0.82918777
91MP0001188_hyperpigmentation0.81800704
92MP0009697_abnormal_copulation0.81688624
93MP0002876_abnormal_thyroid_physiology0.81013438
94MP0004885_abnormal_endolymph0.79957707
95MP0004811_abnormal_neuron_physiology0.79654153
96MP0003633_abnormal_nervous_system0.79601535
97MP0005623_abnormal_meninges_morphology0.78687959
98MP0010368_abnormal_lymphatic_system0.78657304
99MP0003942_abnormal_urinary_system0.77822203
100MP0001286_abnormal_eye_development0.77254520

Predicted human phenotypes

RankGene SetZ-score
1Volvulus (HP:0002580)3.78964329
2Pancreatic fibrosis (HP:0100732)3.65942899
3Pancreatic cysts (HP:0001737)3.49867432
4Abnormality of midbrain morphology (HP:0002418)3.30826837
5Molar tooth sign on MRI (HP:0002419)3.30826837
6Medial flaring of the eyebrow (HP:0010747)3.23241166
7Nephronophthisis (HP:0000090)3.23151426
8True hermaphroditism (HP:0010459)3.17844126
9Chronic hepatic failure (HP:0100626)3.14838320
10Abnormality of the renal medulla (HP:0100957)3.13899344
11Gait imbalance (HP:0002141)2.93266073
12Gaze-evoked nystagmus (HP:0000640)2.92120487
13Abnormality of the renal cortex (HP:0011035)2.91663689
14Aplasia/Hypoplasia of the tibia (HP:0005772)2.90620428
15Tubulointerstitial nephritis (HP:0001970)2.85256245
16Congenital primary aphakia (HP:0007707)2.81812168
17Genital tract atresia (HP:0001827)2.73787145
18Broad-based gait (HP:0002136)2.71760498
19Abnormality of the ischium (HP:0003174)2.67125660
20* Hyperventilation (HP:0002883)2.61458934
21Vaginal atresia (HP:0000148)2.58310754
22Poor coordination (HP:0002370)2.53697874
23Intestinal atresia (HP:0011100)2.51949689
24Cystic liver disease (HP:0006706)2.51222982
25Nephrogenic diabetes insipidus (HP:0009806)2.48046063
26Tubular atrophy (HP:0000092)2.45443116
27Genetic anticipation (HP:0003743)2.42798404
28Drooling (HP:0002307)2.40381736
29Fair hair (HP:0002286)2.38188134
30Hypoplastic labia majora (HP:0000059)2.36931837
31Cerebellar dysplasia (HP:0007033)2.35255599
32Oligodactyly (hands) (HP:0001180)2.34726803
33Postaxial foot polydactyly (HP:0001830)2.33492253
34Aplasia/Hypoplasia of the tongue (HP:0010295)2.31315688
35Febrile seizures (HP:0002373)2.27606962
36Protruding tongue (HP:0010808)2.22955399
37Abnormality of the labia majora (HP:0012881)2.21944251
38Tubulointerstitial abnormality (HP:0001969)2.19477371
39Absent speech (HP:0001344)2.18952439
40Progressive cerebellar ataxia (HP:0002073)2.13318692
41Abnormal ciliary motility (HP:0012262)2.12847299
42Postaxial hand polydactyly (HP:0001162)2.11189226
43Widely spaced teeth (HP:0000687)2.09455972
44Congenital hepatic fibrosis (HP:0002612)2.08418692
45Occipital encephalocele (HP:0002085)2.07871696
46Abnormality of the astrocytes (HP:0100707)2.07657699
47Astrocytoma (HP:0009592)2.07657699
48Excessive salivation (HP:0003781)2.07375467
49Renal cortical cysts (HP:0000803)2.07307040
50Papillary thyroid carcinoma (HP:0002895)2.05655959
51Short foot (HP:0001773)2.03919311
52Absent/shortened dynein arms (HP:0200106)2.01369666
53Dynein arm defect of respiratory motile cilia (HP:0012255)2.01369666
54Short tibia (HP:0005736)2.01086997
55Preaxial hand polydactyly (HP:0001177)2.00143463
56Focal seizures (HP:0007359)1.98566337
57Preaxial foot polydactyly (HP:0001841)1.97830860
58Cutaneous finger syndactyly (HP:0010554)1.96984178
59Hypoplastic ischia (HP:0003175)1.96291900
60Hemiparesis (HP:0001269)1.92113573
61Aqueductal stenosis (HP:0002410)1.89775507
62Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.88958054
63Aplasia/Hypoplasia of the lens (HP:0008063)1.87751410
64Fibular hypoplasia (HP:0003038)1.86918547
65Astigmatism (HP:0000483)1.86763384
66Rhinitis (HP:0012384)1.84722313
67Abnormal respiratory motile cilium physiology (HP:0012261)1.83994738
68Lissencephaly (HP:0001339)1.81750164
69Short chin (HP:0000331)1.81689890
70Glioma (HP:0009733)1.81581484
71Labial hypoplasia (HP:0000066)1.80872140
72Generalized hypopigmentation of hair (HP:0011358)1.78882132
73Type II lissencephaly (HP:0007260)1.77341207
74Truncal obesity (HP:0001956)1.76900530
75* Highly arched eyebrow (HP:0002553)1.76087272
76Small hand (HP:0200055)1.75739486
77Anencephaly (HP:0002323)1.75574251
78Abnormal respiratory epithelium morphology (HP:0012253)1.75047168
79Abnormal respiratory motile cilium morphology (HP:0005938)1.75047168
80Chromsome breakage (HP:0040012)1.73751629
81Abnormality of the nasal septum (HP:0000419)1.73004915
82Renal hypoplasia (HP:0000089)1.71422375
83Ectopic kidney (HP:0000086)1.71218099
84Cupped ear (HP:0000378)1.70334586
85Tented upper lip vermilion (HP:0010804)1.67609979
86Atonic seizures (HP:0010819)1.65977825
87Abnormality of chromosome stability (HP:0003220)1.65072048
88Chorioretinal atrophy (HP:0000533)1.64787608
89Gastrointestinal atresia (HP:0002589)1.64619330
90Sclerocornea (HP:0000647)1.64360667
91* Prominent nasal bridge (HP:0000426)1.63970088
92Aplasia/Hypoplasia of the fibula (HP:0006492)1.63672399
93Hypothermia (HP:0002045)1.62731911
94Aplasia/Hypoplasia of the uvula (HP:0010293)1.62166503
95Pachygyria (HP:0001302)1.62052836
96Keratoconus (HP:0000563)1.60735103
97Increased corneal curvature (HP:0100692)1.60735103
98Exotropia (HP:0000577)1.60093070
99Specific learning disability (HP:0001328)1.59649966
100* Bifid tongue (HP:0010297)1.59187695

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.97905855
2ACVR1B3.15249417
3CASK3.15242824
4BMPR1B3.06166337
5PNCK2.53018808
6AKT32.42095862
7MAP3K42.24720340
8WNK32.13071766
9MARK12.09895073
10STK391.99570678
11MAPK131.98326972
12CAMK1G1.72460758
13MKNK21.66328991
14TNIK1.63191492
15BRD41.62881507
16STK38L1.56527472
17LATS11.56218717
18NTRK31.47081081
19SGK21.43110216
20NUAK11.37297873
21OXSR11.34708970
22FGFR21.32463515
23ERBB31.31910841
24BRSK21.28869519
25PINK11.23652525
26MAP4K21.19357289
27PAK31.18063170
28EPHA41.15309124
29BCR1.12980136
30CSNK1G11.10617931
31WNK41.08747891
32TGFBR11.06981378
33CAMKK21.06041967
34PRKCE1.00549910
35CAMK1D0.97724751
36MAP2K70.97438085
37PLK20.94471385
38CSNK1G20.92481409
39SGK4940.91925816
40SGK2230.91925816
41ADRBK20.90623157
42FER0.88787306
43ZAK0.88022761
44TRIM280.87121876
45EIF2AK30.86309388
46INSRR0.85687292
47MKNK10.84779069
48PDK20.84315923
49MET0.83686544
50PIK3CA0.82364034
51NLK0.81667345
52NTRK20.80280054
53STK30.78285691
54SGK30.77508836
55CSNK1A1L0.75609362
56CSNK1G30.71223296
57GRK10.70697487
58ADRBK10.69839128
59MELK0.67382944
60PHKG10.65502259
61PHKG20.65502259
62OBSCN0.64722311
63PRKCG0.60965482
64CCNB10.60076463
65MAP3K20.59443714
66MUSK0.59111383
67PKN10.58073973
68PRKD30.56423175
69WEE10.54459516
70CAMK40.53935747
71ATM0.52805986
72DAPK20.52001556
73TRPM70.51749339
74PRKAA10.50831812
75CDK30.50502506
76SGK10.49914418
77STK380.49394375
78CAMK10.49288206
79FGFR10.49050067
80PLK40.48940427
81CSNK1D0.48643047
82PIK3CG0.48578819
83MAPK150.48170555
84STK110.47986301
85PTK2B0.47896658
86WNK10.47806111
87CAMK2A0.47190591
88EPHA30.47006461
89MAP2K40.46578485
90CDK120.46092922
91PRKAA20.42986019
92MAP3K70.42774956
93PDGFRB0.41804459
94PRKACB0.37293900
95ATR0.36671925
96YES10.36114884
97PRKG10.35377492
98NEK60.34530606
99ROCK10.33840251
100FLT30.33519052

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.55703601
2Circadian rhythm_Homo sapiens_hsa047102.10407191
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.01973688
4Fanconi anemia pathway_Homo sapiens_hsa034602.00222782
5Non-homologous end-joining_Homo sapiens_hsa034501.82865054
6Phototransduction_Homo sapiens_hsa047441.72746957
7Circadian entrainment_Homo sapiens_hsa047131.67783292
8Butanoate metabolism_Homo sapiens_hsa006501.67441853
9Dorso-ventral axis formation_Homo sapiens_hsa043201.66526725
10Nitrogen metabolism_Homo sapiens_hsa009101.66064245
11Taste transduction_Homo sapiens_hsa047421.65038924
12Lysine degradation_Homo sapiens_hsa003101.63292009
13Glutamatergic synapse_Homo sapiens_hsa047241.59971242
14Propanoate metabolism_Homo sapiens_hsa006401.57908044
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.48109813
16Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.46031694
17ABC transporters_Homo sapiens_hsa020101.45436006
18Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.44686091
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.43056592
20Morphine addiction_Homo sapiens_hsa050321.42123115
21TGF-beta signaling pathway_Homo sapiens_hsa043501.38902530
22Dopaminergic synapse_Homo sapiens_hsa047281.38238158
23GABAergic synapse_Homo sapiens_hsa047271.30464299
24Insulin secretion_Homo sapiens_hsa049111.28179922
25Renin secretion_Homo sapiens_hsa049241.27380955
26Tryptophan metabolism_Homo sapiens_hsa003801.26295537
27Cocaine addiction_Homo sapiens_hsa050301.23844021
28Amphetamine addiction_Homo sapiens_hsa050311.22970767
29Hedgehog signaling pathway_Homo sapiens_hsa043401.22452595
30Primary bile acid biosynthesis_Homo sapiens_hsa001201.22207097
31Selenocompound metabolism_Homo sapiens_hsa004501.20824040
32Serotonergic synapse_Homo sapiens_hsa047261.18190319
33Hippo signaling pathway_Homo sapiens_hsa043901.17272568
34Long-term depression_Homo sapiens_hsa047301.17046750
35Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.15397261
36Salivary secretion_Homo sapiens_hsa049701.15392079
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.13245988
38Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.12564628
39Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.11104414
40Basal transcription factors_Homo sapiens_hsa030221.04802811
41Calcium signaling pathway_Homo sapiens_hsa040201.03637876
42Homologous recombination_Homo sapiens_hsa034401.03405846
43Axon guidance_Homo sapiens_hsa043601.02922690
44Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.01261408
45Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.01102289
46cAMP signaling pathway_Homo sapiens_hsa040241.00632240
47Olfactory transduction_Homo sapiens_hsa047400.99241785
48Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.98563385
49Linoleic acid metabolism_Homo sapiens_hsa005910.96703747
50ECM-receptor interaction_Homo sapiens_hsa045120.96627232
51Fatty acid biosynthesis_Homo sapiens_hsa000610.96384769
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.94923629
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.93508682
54Aldosterone synthesis and secretion_Homo sapiens_hsa049250.93263309
55cGMP-PKG signaling pathway_Homo sapiens_hsa040220.92955692
56beta-Alanine metabolism_Homo sapiens_hsa004100.92709552
57Ether lipid metabolism_Homo sapiens_hsa005650.92284863
58Adherens junction_Homo sapiens_hsa045200.91515917
59Steroid hormone biosynthesis_Homo sapiens_hsa001400.91086747
60alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.90365349
61Basal cell carcinoma_Homo sapiens_hsa052170.89930945
62Histidine metabolism_Homo sapiens_hsa003400.89290778
63Maturity onset diabetes of the young_Homo sapiens_hsa049500.87744935
64Oxytocin signaling pathway_Homo sapiens_hsa049210.84175253
65Tight junction_Homo sapiens_hsa045300.83905523
66Cholinergic synapse_Homo sapiens_hsa047250.82936707
67Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.81278697
68Phosphatidylinositol signaling system_Homo sapiens_hsa040700.79147664
69Regulation of autophagy_Homo sapiens_hsa041400.79104539
70Dilated cardiomyopathy_Homo sapiens_hsa054140.78592622
71Ovarian steroidogenesis_Homo sapiens_hsa049130.78134499
72Wnt signaling pathway_Homo sapiens_hsa043100.74712606
73Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.74304793
74Caffeine metabolism_Homo sapiens_hsa002320.73667731
75Oocyte meiosis_Homo sapiens_hsa041140.72278742
76Type II diabetes mellitus_Homo sapiens_hsa049300.71548972
77Glycerolipid metabolism_Homo sapiens_hsa005610.71490781
78Melanoma_Homo sapiens_hsa052180.69453900
79Gastric acid secretion_Homo sapiens_hsa049710.69348226
80Alcoholism_Homo sapiens_hsa050340.69037398
81Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.68270256
82Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.68175161
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.63346573
84Chemical carcinogenesis_Homo sapiens_hsa052040.61165257
85Thyroid hormone synthesis_Homo sapiens_hsa049180.60083678
86MicroRNAs in cancer_Homo sapiens_hsa052060.59992889
87Sphingolipid metabolism_Homo sapiens_hsa006000.59213612
88Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.59140246
89Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.57780294
90Inositol phosphate metabolism_Homo sapiens_hsa005620.57020790
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56597183
92Gap junction_Homo sapiens_hsa045400.55911208
93Glucagon signaling pathway_Homo sapiens_hsa049220.54935898
94Pancreatic secretion_Homo sapiens_hsa049720.53785690
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.52289164
96Protein export_Homo sapiens_hsa030600.52045939
97Peroxisome_Homo sapiens_hsa041460.51970149
98Steroid biosynthesis_Homo sapiens_hsa001000.51501567
99Focal adhesion_Homo sapiens_hsa045100.50915517
100FoxO signaling pathway_Homo sapiens_hsa040680.49969868

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