C5ORF45

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
1cellular response to ATP (GO:0071318)6.24953420
2behavioral response to nicotine (GO:0035095)5.76261044
3indolalkylamine catabolic process (GO:0046218)4.42403156
4tryptophan catabolic process (GO:0006569)4.42403156
5indole-containing compound catabolic process (GO:0042436)4.42403156
6positive regulation of protein kinase C signaling (GO:0090037)4.19578312
7cilium or flagellum-dependent cell motility (GO:0001539)4.16510591
8kynurenine metabolic process (GO:0070189)4.03904713
9regulation of memory T cell differentiation (GO:0043380)3.96641588
10indolalkylamine metabolic process (GO:0006586)3.96284087
11purinergic nucleotide receptor signaling pathway (GO:0035590)3.91441949
12epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.73578892
13negative regulation of multicellular organism growth (GO:0040015)3.72950937
14detection of light stimulus involved in sensory perception (GO:0050962)3.72687500
15detection of light stimulus involved in visual perception (GO:0050908)3.72687500
16meiotic chromosome segregation (GO:0045132)3.66340140
17tryptophan metabolic process (GO:0006568)3.64740522
18peristalsis (GO:0030432)3.61936504
19NAD biosynthetic process (GO:0009435)3.50893177
20synaptic transmission, cholinergic (GO:0007271)3.48620944
21positive regulation of heat generation (GO:0031652)3.43359834
22regulation of skeletal muscle contraction (GO:0014819)3.40220227
23regulation of MHC class I biosynthetic process (GO:0045343)3.39250558
24L-fucose catabolic process (GO:0042355)3.38790120
25fucose catabolic process (GO:0019317)3.38790120
26L-fucose metabolic process (GO:0042354)3.38790120
27axoneme assembly (GO:0035082)3.38120144
28urinary tract smooth muscle contraction (GO:0014848)3.31865576
29phosphatidylglycerol biosynthetic process (GO:0006655)3.27779223
30sex differentiation (GO:0007548)3.24768263
31sex determination (GO:0007530)3.20412607
32regulation of action potential (GO:0098900)3.19582390
333-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.18909115
34purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.18909115
35amine catabolic process (GO:0009310)3.15818117
36cellular biogenic amine catabolic process (GO:0042402)3.15818117
37cellular response to exogenous dsRNA (GO:0071360)3.15535208
38response to ATP (GO:0033198)3.13852750
39DNA strand renaturation (GO:0000733)3.13733829
40positive regulation of defense response to virus by host (GO:0002230)3.06718044
41cilium movement (GO:0003341)3.06080899
42rRNA methylation (GO:0031167)3.05792660
43snRNA transcription (GO:0009301)3.02376725
44negative regulation of mast cell activation (GO:0033004)2.95385343
45epithelial cilium movement (GO:0003351)2.93311218
46regulation of heat generation (GO:0031650)2.84374393
47regulation of establishment of cell polarity (GO:2000114)2.84146268
48cornea development in camera-type eye (GO:0061303)2.82097854
49detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.80187019
50indole-containing compound metabolic process (GO:0042430)2.77686354
51nucleotide transmembrane transport (GO:1901679)2.76021964
52transepithelial transport (GO:0070633)2.75183548
53nephron tubule morphogenesis (GO:0072078)2.74004560
54nephron epithelium morphogenesis (GO:0072088)2.74004560
55water-soluble vitamin biosynthetic process (GO:0042364)2.73903707
56positive regulation of triglyceride biosynthetic process (GO:0010867)2.72830864
57negative regulation of cell aging (GO:0090344)2.70875921
58neuronal action potential (GO:0019228)2.69084786
59regulation of nuclear cell cycle DNA replication (GO:0033262)2.66422578
60GDP-mannose metabolic process (GO:0019673)2.65884167
61cardiolipin metabolic process (GO:0032048)2.63867034
62pyridine nucleotide biosynthetic process (GO:0019363)2.63213315
63nicotinamide nucleotide biosynthetic process (GO:0019359)2.63213315
64negative regulation of Rho protein signal transduction (GO:0035024)2.62867954
65positive regulation of fatty acid beta-oxidation (GO:0032000)2.61710988
66negative regulation of reactive oxygen species metabolic process (GO:2000378)2.60674051
67interferon-gamma production (GO:0032609)2.60424925
68G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.59538686
69regulation of gene silencing by RNA (GO:0060966)2.59411985
70regulation of posttranscriptional gene silencing (GO:0060147)2.59411985
71regulation of gene silencing by miRNA (GO:0060964)2.59411985
72cellular ketone body metabolic process (GO:0046950)2.58657269
73cerebellar Purkinje cell differentiation (GO:0021702)2.58589122
74gamma-aminobutyric acid transport (GO:0015812)2.58533532
75photoreceptor cell development (GO:0042461)2.57494495
76purinergic receptor signaling pathway (GO:0035587)2.57176117
77positive regulation of CREB transcription factor activity (GO:0032793)2.56845198
78negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.55498970
79aromatic amino acid family catabolic process (GO:0009074)2.55462442
80regulation of establishment or maintenance of cell polarity (GO:0032878)2.53532000
81sensory perception of taste (GO:0050909)2.51326269
82regulation of hydrogen peroxide metabolic process (GO:0010310)2.48909687
83neuromuscular synaptic transmission (GO:0007274)2.47966234
84phasic smooth muscle contraction (GO:0014821)2.47051788
85startle response (GO:0001964)2.46683687
86positive regulation of fatty acid oxidation (GO:0046321)2.46353010
87reciprocal DNA recombination (GO:0035825)2.46214509
88reciprocal meiotic recombination (GO:0007131)2.46214509
89lens fiber cell differentiation (GO:0070306)2.45327300
90regulation of synapse structural plasticity (GO:0051823)2.44831918
91eye photoreceptor cell development (GO:0042462)2.44687826
92L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.44534548
93rRNA modification (GO:0000154)2.44064977
94sialylation (GO:0097503)2.44025312
95alkaloid metabolic process (GO:0009820)2.43761893
96positive regulation of protein homooligomerization (GO:0032464)2.42591487
97nucleoside transmembrane transport (GO:1901642)2.42467645
98sulfation (GO:0051923)2.40525769
99photoreceptor cell maintenance (GO:0045494)2.39947846
100regulation of triglyceride biosynthetic process (GO:0010866)2.39770745

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_22108803_ChIP-Seq_LS180_Human2.51561217
2EZH2_22144423_ChIP-Seq_EOC_Human2.33972976
3CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.31982863
4ZNF274_21170338_ChIP-Seq_K562_Hela2.31154621
5DROSHA_22980978_ChIP-Seq_HELA_Human2.17648571
6IKZF1_21737484_ChIP-ChIP_HCT116_Human2.09009923
7NOTCH1_21737748_ChIP-Seq_TLL_Human2.08880019
8STAT6_21828071_ChIP-Seq_BEAS2B_Human2.03151993
9ERA_21632823_ChIP-Seq_H3396_Human1.94896795
10BCL6_27268052_Chip-Seq_Bcells_Human1.72468565
11P68_20966046_ChIP-Seq_HELA_Human1.70816334
12GBX2_23144817_ChIP-Seq_PC3_Human1.69701578
13VDR_21846776_ChIP-Seq_THP-1_Human1.69388744
14E2F1_20622854_ChIP-Seq_HELA_Human1.66467241
15EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.65050615
16BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.63955711
17CTCF_27219007_Chip-Seq_Bcells_Human1.60133799
18EZH2_27294783_Chip-Seq_ESCs_Mouse1.58138493
19PHF8_20622854_ChIP-Seq_HELA_Human1.56882435
20BCOR_27268052_Chip-Seq_Bcells_Human1.55807477
21OCT4_20526341_ChIP-Seq_ESCs_Human1.50429854
22EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.49503832
23REST_21632747_ChIP-Seq_MESCs_Mouse1.48835493
24SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.47464224
25IRF8_22096565_ChIP-ChIP_GC-B_Human1.47295633
26P53_21459846_ChIP-Seq_SAOS-2_Human1.45372592
27GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44250676
28GATA3_21878914_ChIP-Seq_MCF-7_Human1.43502209
29* TAF2_19829295_ChIP-Seq_ESCs_Human1.41239565
30JARID2_20075857_ChIP-Seq_MESCs_Mouse1.40416921
31SUZ12_27294783_Chip-Seq_ESCs_Mouse1.40237906
32EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.36413375
33ER_23166858_ChIP-Seq_MCF-7_Human1.34878762
34MYC_19829295_ChIP-Seq_ESCs_Human1.34568829
35RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.34294611
36PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.31932716
37TP53_22573176_ChIP-Seq_HFKS_Human1.31121653
38CTCF_20526341_ChIP-Seq_ESCs_Human1.28859681
39NANOG_20526341_ChIP-Seq_ESCs_Human1.28263195
40CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.28234619
41MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.28018021
42RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.24555507
43TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.23562754
44BCAT_22108803_ChIP-Seq_LS180_Human1.23469338
45MAF_26560356_Chip-Seq_TH2_Human1.21405433
46EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.20507125
47P300_27268052_Chip-Seq_Bcells_Human1.20076713
48E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.19599673
49RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.19465416
50ETV2_25802403_ChIP-Seq_MESCs_Mouse1.19231983
51CTBP2_25329375_ChIP-Seq_LNCAP_Human1.16094131
52NCOR_22424771_ChIP-Seq_293T_Human1.15334717
53SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.15222840
54TAF15_26573619_Chip-Seq_HEK293_Human1.14694163
55OCT4_19829295_ChIP-Seq_ESCs_Human1.14283707
56RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09556332
57PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.08809647
58BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08538670
59CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.08354359
60ZFP57_27257070_Chip-Seq_ESCs_Mouse1.07375957
61GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.07271075
62SMC4_20622854_ChIP-Seq_HELA_Human1.06901101
63ERG_21242973_ChIP-ChIP_JURKAT_Human1.06787882
64NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.06611469
65RXRA_24833708_ChIP-Seq_LIVER_Mouse1.06483490
66RARB_24833708_ChIP-Seq_LIVER_Mouse1.05088014
67EWS_26573619_Chip-Seq_HEK293_Human1.05068485
68TDRD3_21172665_ChIP-Seq_MCF-7_Human1.03980037
69EGR1_23403033_ChIP-Seq_LIVER_Mouse1.03386477
70EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.02993121
71RAC3_21632823_ChIP-Seq_H3396_Human1.01962835
72CTBP1_25329375_ChIP-Seq_LNCAP_Human1.01181300
73P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.00811897
74LXR_22292898_ChIP-Seq_THP-1_Human1.00534965
75TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.99611675
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99016010
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99016010
78YY1_22570637_ChIP-Seq_MALME-3M_Human0.98552558
79TP63_22573176_ChIP-Seq_HFKS_Human0.97584434
80* ELF1_20517297_ChIP-Seq_JURKAT_Human0.96404531
81NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.95515169
82FUS_26573619_Chip-Seq_HEK293_Human0.95294444
83VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.95208487
84BMI1_23680149_ChIP-Seq_NPCS_Mouse0.95182573
85SA1_27219007_Chip-Seq_Bcells_Human0.93762881
86VDR_24763502_ChIP-Seq_THP-1_Human0.93736973
87NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92862298
88MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91239708
89OCT1_27270436_Chip-Seq_PROSTATE_Human0.90051665
90LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.89493384
91JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88687688
92FOXH1_21741376_ChIP-Seq_ESCs_Human0.88021363
93CBP_20019798_ChIP-Seq_JUKART_Human0.87805247
94IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.87805247
95TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.87414059
96KLF4_19829295_ChIP-Seq_ESCs_Human0.87047745
97FOXA1_27270436_Chip-Seq_PROSTATE_Human0.87017930
98FOXA1_25329375_ChIP-Seq_VCAP_Human0.87017930
99REST_18959480_ChIP-ChIP_MESCs_Mouse0.86628374
100CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.86006961

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001986_abnormal_taste_sensitivity5.19141408
2MP0003136_yellow_coat_color4.76090057
3MP0005174_abnormal_tail_pigmentation4.64316895
4MP0005171_absent_coat_pigmentation3.54111458
5MP0005423_abnormal_somatic_nervous3.50043878
6MP0001968_abnormal_touch/_nociception3.16159319
7MP0004043_abnormal_pH_regulation3.06456023
8MP0002638_abnormal_pupillary_reflex2.68554922
9MP0003195_calcinosis2.48868950
10MP0001188_hyperpigmentation2.37165644
11MP0008875_abnormal_xenobiotic_pharmacok2.28765723
12MP0002736_abnormal_nociception_after2.22543646
13MP0002138_abnormal_hepatobiliary_system2.19701251
14MP0005551_abnormal_eye_electrophysiolog2.17931562
15MP0001502_abnormal_circadian_rhythm2.06646075
16MP0000015_abnormal_ear_pigmentation1.96245593
17MP0010386_abnormal_urinary_bladder1.87935193
18MP0004381_abnormal_hair_follicle1.73983150
19MP0001873_stomach_inflammation1.70233546
20MP0001501_abnormal_sleep_pattern1.68154732
21MP0003646_muscle_fatigue1.63686988
22MP0002876_abnormal_thyroid_physiology1.62517124
23MP0004130_abnormal_muscle_cell1.57377882
24MP0001756_abnormal_urination1.56165945
25MP0009745_abnormal_behavioral_response1.54479557
26MP0003011_delayed_dark_adaptation1.52357840
27MP0000569_abnormal_digit_pigmentation1.51139523
28MP0002837_dystrophic_cardiac_calcinosis1.44003127
29MP0009046_muscle_twitch1.42038667
30MP0005083_abnormal_biliary_tract1.39487083
31MP0003878_abnormal_ear_physiology1.39305650
32MP0005377_hearing/vestibular/ear_phenot1.39305650
33MP0003879_abnormal_hair_cell1.38423307
34MP0000538_abnormal_urinary_bladder1.31163653
35MP0000427_abnormal_hair_cycle1.30677365
36MP0003252_abnormal_bile_duct1.30021150
37MP0001970_abnormal_pain_threshold1.28023810
38MP0005365_abnormal_bile_salt1.26917149
39MP0002272_abnormal_nervous_system1.25559609
40MP0004142_abnormal_muscle_tone1.25540848
41MP0002064_seizures1.20292403
42MP0006276_abnormal_autonomic_nervous1.19963725
43MP0002928_abnormal_bile_duct1.18347371
44MP0002735_abnormal_chemical_nociception1.18311419
45MP0000013_abnormal_adipose_tissue1.16863031
46MP0008961_abnormal_basal_metabolism1.15108931
47MP0005084_abnormal_gallbladder_morpholo1.11789981
48MP0002653_abnormal_ependyma_morphology1.09294317
49MP0005646_abnormal_pituitary_gland1.08339196
50MP0005332_abnormal_amino_acid1.07929427
51MP0001486_abnormal_startle_reflex1.06461542
52MP0005310_abnormal_salivary_gland1.06224636
53MP0000371_diluted_coat_color1.04591697
54MP0001485_abnormal_pinna_reflex1.03919536
55MP0004019_abnormal_vitamin_homeostasis1.03770610
56MP0004885_abnormal_endolymph1.03117722
57MP0008872_abnormal_physiological_respon1.02769881
58MP0001664_abnormal_digestion1.02734920
59MP0005253_abnormal_eye_physiology0.99179589
60MP0002139_abnormal_hepatobiliary_system0.99014471
61MP0003137_abnormal_impulse_conducting0.98926956
62MP0002572_abnormal_emotion/affect_behav0.98672094
63MP0005085_abnormal_gallbladder_physiolo0.98230133
64MP0000230_abnormal_systemic_arterial0.95565016
65MP0005409_darkened_coat_color0.92118887
66MP0003172_abnormal_lysosome_physiology0.90216617
67MP0002063_abnormal_learning/memory/cond0.87836032
68MP0005448_abnormal_energy_balance0.87592559
69MP0002693_abnormal_pancreas_physiology0.86722047
70MP0004742_abnormal_vestibular_system0.85186189
71MP0006292_abnormal_olfactory_placode0.83127213
72MP0002102_abnormal_ear_morphology0.83089260
73MP0001765_abnormal_ion_homeostasis0.81867791
74MP0002067_abnormal_sensory_capabilities0.81820070
75MP0002095_abnormal_skin_pigmentation0.81001240
76MP0004133_heterotaxia0.80033860
77MP0009764_decreased_sensitivity_to0.78160335
78MP0000026_abnormal_inner_ear0.78091892
79MP0003635_abnormal_synaptic_transmissio0.77758590
80MP0002557_abnormal_social/conspecific_i0.77687904
81MP0000470_abnormal_stomach_morphology0.75889614
82MP0000685_abnormal_immune_system0.74429294
83MP0005410_abnormal_fertilization0.74155234
84MP0002733_abnormal_thermal_nociception0.73269397
85MP0003787_abnormal_imprinting0.73148711
86MP0002118_abnormal_lipid_homeostasis0.71944458
87MP0005167_abnormal_blood-brain_barrier0.71300187
88MP0005387_immune_system_phenotype0.70783891
89MP0001790_abnormal_immune_system0.70783891
90MP0002933_joint_inflammation0.68947834
91MP0001944_abnormal_pancreas_morphology0.68463196
92MP0004924_abnormal_behavior0.68009503
93MP0005386_behavior/neurological_phenoty0.68009503
94MP0010329_abnormal_lipoprotein_level0.67451130
95MP0000631_abnormal_neuroendocrine_gland0.67443688
96MP0003880_abnormal_central_pattern0.66933817
97MP0002277_abnormal_respiratory_mucosa0.66790307
98MP0002160_abnormal_reproductive_system0.66354801
99MP0005389_reproductive_system_phenotype0.66285386
100MP0002148_abnormal_hypersensitivity_rea0.66137228

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)5.35032985
2Genetic anticipation (HP:0003743)4.88858272
3Rib fusion (HP:0000902)4.43915106
4Attenuation of retinal blood vessels (HP:0007843)4.31784386
5Molar tooth sign on MRI (HP:0002419)3.56106680
6Abnormality of midbrain morphology (HP:0002418)3.56106680
7Polydipsia (HP:0001959)3.54562219
8Abnormal drinking behavior (HP:0030082)3.54562219
9Progressive cerebellar ataxia (HP:0002073)3.52012968
10Bony spicule pigmentary retinopathy (HP:0007737)3.43812172
11Pancreatic cysts (HP:0001737)3.43778553
12Decreased circulating renin level (HP:0003351)3.41608161
13Nephronophthisis (HP:0000090)3.36609576
14Tubular atrophy (HP:0000092)3.35169287
15Pendular nystagmus (HP:0012043)3.33503136
16Chorioretinal atrophy (HP:0000533)3.10370265
17Gaze-evoked nystagmus (HP:0000640)3.03552254
18Chronic hepatic failure (HP:0100626)2.98021075
19Patellar aplasia (HP:0006443)2.89820824
20Abnormality of the renal medulla (HP:0100957)2.87752566
21Pancreatic fibrosis (HP:0100732)2.85775372
22Absent/shortened dynein arms (HP:0200106)2.83311607
23Dynein arm defect of respiratory motile cilia (HP:0012255)2.83311607
24Protruding tongue (HP:0010808)2.81443207
25Poikiloderma (HP:0001029)2.79196353
26Hyperventilation (HP:0002883)2.77211435
27Aplasia/Hypoplasia of the patella (HP:0006498)2.75557162
28Clumsiness (HP:0002312)2.74801078
29Testicular atrophy (HP:0000029)2.68787016
30True hermaphroditism (HP:0010459)2.62579775
31Polyuria (HP:0000103)2.59361805
32Rectal fistula (HP:0100590)2.58942072
33Rectovaginal fistula (HP:0000143)2.58942072
34Intestinal fistula (HP:0100819)2.47334775
35Birth length less than 3rd percentile (HP:0003561)2.46460676
36Decreased central vision (HP:0007663)2.45261851
37Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.44558400
38Hypoplasia of the pons (HP:0012110)2.43792216
39Annular pancreas (HP:0001734)2.42220311
40Congenital sensorineural hearing impairment (HP:0008527)2.41903072
41Cystic liver disease (HP:0006706)2.39620175
42Decreased electroretinogram (ERG) amplitude (HP:0000654)2.37015692
43Abnormality of the hepatic vasculature (HP:0006707)2.36356614
44Hypoalbuminemia (HP:0003073)2.36326709
45Abnormal albumin level (HP:0012116)2.36326709
46Abnormality of the pons (HP:0007361)2.34957685
47Abnormal respiratory epithelium morphology (HP:0012253)2.33904052
48Abnormal respiratory motile cilium morphology (HP:0005938)2.33904052
49Facial hemangioma (HP:0000329)2.25229512
50Facial diplegia (HP:0001349)2.21578055
51Absent speech (HP:0001344)2.20987571
52Increased neuronal autofluorescent lipopigment (HP:0002074)2.20271454
53Abnormal biliary tract physiology (HP:0012439)2.18726837
54Bile duct proliferation (HP:0001408)2.18726837
55Abnormal urine output (HP:0012590)2.16074717
56Vaginal fistula (HP:0004320)2.15760759
57Medial flaring of the eyebrow (HP:0010747)2.14663723
58Abnormal rod and cone electroretinograms (HP:0008323)2.14133154
59Abnormal ciliary motility (HP:0012262)2.13994153
60Type II lissencephaly (HP:0007260)2.13857452
61Abnormality of the renal cortex (HP:0011035)2.13429718
62Hypochromic anemia (HP:0001931)2.12812014
63Retinitis pigmentosa (HP:0000510)2.11826833
64Congenital hepatic fibrosis (HP:0002612)2.08634469
65Short chin (HP:0000331)2.07594421
66Absent thumb (HP:0009777)2.07242172
67Dysmetric saccades (HP:0000641)2.06656512
68Impaired smooth pursuit (HP:0007772)2.05153072
69Severe visual impairment (HP:0001141)2.03183781
70Abolished electroretinogram (ERG) (HP:0000550)1.99180360
71Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.97566967
72Methylmalonic aciduria (HP:0012120)1.96489160
73Abnormal respiratory motile cilium physiology (HP:0012261)1.94334877
74Abnormal number of erythroid precursors (HP:0012131)1.93704870
75Abnormality of renal excretion (HP:0011036)1.93276697
76Macular degeneration (HP:0000608)1.91926559
77Abnormality of renin-angiotensin system (HP:0000847)1.85925582
78Ketosis (HP:0001946)1.82490853
79Absence seizures (HP:0002121)1.81577464
80Aplasia of the musculature (HP:0100854)1.79575543
81Male pseudohermaphroditism (HP:0000037)1.78460824
82Hypophosphatemic rickets (HP:0004912)1.78273812
83Febrile seizures (HP:0002373)1.77556434
84Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.76939352
85Small hand (HP:0200055)1.75831937
86Tachypnea (HP:0002789)1.75663764
87Large for gestational age (HP:0001520)1.75592535
88Homocystinuria (HP:0002156)1.74409181
89Abnormality of homocysteine metabolism (HP:0010919)1.74409181
90Lip pit (HP:0100267)1.74252629
91Enlarged epiphyses (HP:0010580)1.74016666
92Ketoacidosis (HP:0001993)1.73932217
93Squamous cell carcinoma (HP:0002860)1.72880479
94Cerebellar dysplasia (HP:0007033)1.72292772
95Macroglossia (HP:0000158)1.72244872
96Urinary bladder sphincter dysfunction (HP:0002839)1.72042121
97Dialeptic seizures (HP:0011146)1.70156823
98Turricephaly (HP:0000262)1.68658251
99Increased cerebral lipofuscin (HP:0011813)1.66172675
100Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.65617274

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.12655321
2MAPK154.35052076
3TLK13.74154494
4ACVR1B3.66299883
5WNK43.15072497
6BMPR1B2.99937191
7ADRBK22.90849597
8SIK22.47796388
9TAOK32.42236235
10OXSR12.32010402
11CDK192.11364879
12GRK12.11072447
13BLK2.04900686
14ZAK1.58798723
15DAPK21.55554512
16TXK1.52956896
17AKT31.47837479
18TNK21.44059726
19ADRBK11.37245507
20GRK61.37083656
21MAP2K61.35282674
22INSRR1.31795155
23IKBKB1.31682035
24MAP3K71.19606685
25PINK11.15810532
26CHUK1.11671643
27WNK31.10934715
28MAPK131.07273119
29PIK3CA1.01492962
30CAMK1D1.00029606
31NTRK30.98284872
32STK390.95152000
33MAP4K10.93092596
34TGFBR10.92440244
35PRKD20.87355334
36STK160.86871159
37MAP4K20.82441392
38STK110.82190483
39CAMKK20.81416675
40PDK20.76133441
41RPS6KA60.75659796
42MKNK20.75161731
43CAMK10.74222695
44PRKCG0.71742829
45MAPK120.71328820
46WNK10.71007091
47MUSK0.69866147
48PAK30.67631395
49IKBKE0.66435646
50PRKAA20.62925618
51TBK10.62197944
52HIPK20.62183424
53MARK20.61509971
54PHKG10.60235950
55PHKG20.60235950
56PDPK10.57213885
57KIT0.56855338
58PRKAA10.56219168
59PRKCQ0.56071141
60MAPK110.55339392
61MAPKAPK30.55164311
62PKN10.54497923
63NEK20.53320191
64NUAK10.52437496
65TRPM70.51949560
66CAMK1G0.51123122
67TEC0.50797330
68SYK0.50738800
69SGK4940.49602396
70SGK2230.49602396
71CASK0.48139642
72CDC42BPA0.46937158
73PRKCH0.46694792
74NTRK20.45463786
75MARK30.44730062
76GRK70.42668648
77PDK10.41758912
78PIM20.41148683
79STK380.40702679
80PTK2B0.39589259
81MAP3K40.39575442
82CSNK1D0.39165617
83PRKCZ0.38615157
84MELK0.38599219
85BTK0.38348682
86PRKD10.37328801
87MAP2K40.37193635
88CAMKK10.36871723
89MAPK80.36511174
90RPS6KL10.36297124
91RPS6KC10.36297124
92RPS6KA20.36113471
93PRKACA0.35738026
94TIE10.35077190
95ITK0.34977518
96ZAP700.31817783
97SGK20.31396021
98TYRO30.31307551
99MAPK70.30442968
100MAP2K20.30157628

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006044.50778335
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.23349735
3Sulfur relay system_Homo sapiens_hsa041222.95133052
4Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.75133576
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.63834600
6Linoleic acid metabolism_Homo sapiens_hsa005912.23277665
7Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.11487509
8alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.08191948
9Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.05573101
10Nicotine addiction_Homo sapiens_hsa050331.98601171
11ABC transporters_Homo sapiens_hsa020101.83586991
12Primary bile acid biosynthesis_Homo sapiens_hsa001201.81589317
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.80797536
14Intestinal immune network for IgA production_Homo sapiens_hsa046721.73605825
15Phototransduction_Homo sapiens_hsa047441.72645650
16Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.69491246
17Taste transduction_Homo sapiens_hsa047421.64269733
18Ether lipid metabolism_Homo sapiens_hsa005651.52891891
19Circadian rhythm_Homo sapiens_hsa047101.45612041
20Maturity onset diabetes of the young_Homo sapiens_hsa049501.41826654
21Glycosaminoglycan degradation_Homo sapiens_hsa005311.34713284
22Caffeine metabolism_Homo sapiens_hsa002321.31352838
23Tryptophan metabolism_Homo sapiens_hsa003801.30143480
24Nitrogen metabolism_Homo sapiens_hsa009101.29376976
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.27787128
26Chemical carcinogenesis_Homo sapiens_hsa052041.26757698
27Morphine addiction_Homo sapiens_hsa050321.21185958
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.20556331
29Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13153437
30Vitamin digestion and absorption_Homo sapiens_hsa049771.10907487
31Glycerolipid metabolism_Homo sapiens_hsa005611.07039273
32Ovarian steroidogenesis_Homo sapiens_hsa049131.06205196
33Retinol metabolism_Homo sapiens_hsa008301.05057413
34RNA polymerase_Homo sapiens_hsa030201.03803641
35Carbohydrate digestion and absorption_Homo sapiens_hsa049731.02063991
36Graft-versus-host disease_Homo sapiens_hsa053320.99939937
37Sphingolipid metabolism_Homo sapiens_hsa006000.99593537
38Dorso-ventral axis formation_Homo sapiens_hsa043200.99223166
39Calcium signaling pathway_Homo sapiens_hsa040200.98279291
40Insulin secretion_Homo sapiens_hsa049110.94071242
41Selenocompound metabolism_Homo sapiens_hsa004500.93071983
42Butanoate metabolism_Homo sapiens_hsa006500.92584175
43Fanconi anemia pathway_Homo sapiens_hsa034600.91434657
44Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.86759042
45Asthma_Homo sapiens_hsa053100.86656546
46Arachidonic acid metabolism_Homo sapiens_hsa005900.86632173
47Mineral absorption_Homo sapiens_hsa049780.85228734
48Histidine metabolism_Homo sapiens_hsa003400.83933968
49Allograft rejection_Homo sapiens_hsa053300.83289461
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.80911694
51Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.80329840
52Type I diabetes mellitus_Homo sapiens_hsa049400.79053691
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.78989332
54Glutamatergic synapse_Homo sapiens_hsa047240.77371942
55Olfactory transduction_Homo sapiens_hsa047400.75532112
56Autoimmune thyroid disease_Homo sapiens_hsa053200.74755631
57NOD-like receptor signaling pathway_Homo sapiens_hsa046210.74125454
58Glycerophospholipid metabolism_Homo sapiens_hsa005640.73190504
59Homologous recombination_Homo sapiens_hsa034400.73003165
60Lysosome_Homo sapiens_hsa041420.72671643
61Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72353955
62Fat digestion and absorption_Homo sapiens_hsa049750.68803527
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67803914
64Serotonergic synapse_Homo sapiens_hsa047260.66851382
65Staphylococcus aureus infection_Homo sapiens_hsa051500.65123940
66Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.64026219
67Cocaine addiction_Homo sapiens_hsa050300.63866376
68Circadian entrainment_Homo sapiens_hsa047130.62795919
69Salivary secretion_Homo sapiens_hsa049700.62283691
70Basal transcription factors_Homo sapiens_hsa030220.60663980
71cAMP signaling pathway_Homo sapiens_hsa040240.60179957
72Cholinergic synapse_Homo sapiens_hsa047250.56024532
73GABAergic synapse_Homo sapiens_hsa047270.55337214
74Regulation of autophagy_Homo sapiens_hsa041400.54556684
75Rheumatoid arthritis_Homo sapiens_hsa053230.50007695
76Primary immunodeficiency_Homo sapiens_hsa053400.49057171
77NF-kappa B signaling pathway_Homo sapiens_hsa040640.46335075
78Lysine degradation_Homo sapiens_hsa003100.46234300
79Cyanoamino acid metabolism_Homo sapiens_hsa004600.46125058
80MAPK signaling pathway_Homo sapiens_hsa040100.45718349
81Hedgehog signaling pathway_Homo sapiens_hsa043400.45411251
82Vascular smooth muscle contraction_Homo sapiens_hsa042700.44687654
83Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.44057750
84RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.43812444
85beta-Alanine metabolism_Homo sapiens_hsa004100.43553940
86Other glycan degradation_Homo sapiens_hsa005110.40644455
87TNF signaling pathway_Homo sapiens_hsa046680.40628054
88Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39812913
89Oxidative phosphorylation_Homo sapiens_hsa001900.37608777
90Bile secretion_Homo sapiens_hsa049760.37280037
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36722500
92Collecting duct acid secretion_Homo sapiens_hsa049660.36669727
93Jak-STAT signaling pathway_Homo sapiens_hsa046300.36627522
94Oxytocin signaling pathway_Homo sapiens_hsa049210.34554665
95African trypanosomiasis_Homo sapiens_hsa051430.34397451
96Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.34260505
97Pancreatic secretion_Homo sapiens_hsa049720.33879236
98Insulin resistance_Homo sapiens_hsa049310.32159843
99Adipocytokine signaling pathway_Homo sapiens_hsa049200.31615353
100PPAR signaling pathway_Homo sapiens_hsa033200.31614377

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