CCDC192

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.37504768
2male meiosis (GO:0007140)4.86545901
3positive regulation of catecholamine secretion (GO:0033605)4.85494619
4multicellular organism reproduction (GO:0032504)4.81381105
5acrosome reaction (GO:0007340)4.68475123
6regulation of posttranscriptional gene silencing (GO:0060147)4.67621118
7regulation of gene silencing by miRNA (GO:0060964)4.67621118
8regulation of gene silencing by RNA (GO:0060966)4.67621118
9epithelial cilium movement (GO:0003351)4.51700892
10spermatid development (GO:0007286)4.46500996
11L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.42810962
12sperm motility (GO:0030317)4.40730273
13piRNA metabolic process (GO:0034587)4.24011993
14motile cilium assembly (GO:0044458)4.19339219
15regulation of phosphoprotein phosphatase activity (GO:0043666)3.95043274
16cilium or flagellum-dependent cell motility (GO:0001539)3.93550460
17ubiquinone biosynthetic process (GO:0006744)3.91633266
18response to pheromone (GO:0019236)3.85637218
19amino acid salvage (GO:0043102)3.83082046
20L-methionine salvage (GO:0071267)3.83082046
21L-methionine biosynthetic process (GO:0071265)3.83082046
22activation of protein kinase B activity (GO:0032148)3.72307127
23sperm-egg recognition (GO:0035036)3.69866345
24tryptophan catabolic process (GO:0006569)3.69368442
25indole-containing compound catabolic process (GO:0042436)3.69368442
26indolalkylamine catabolic process (GO:0046218)3.69368442
27negative regulation of gene silencing (GO:0060969)3.66015572
28fatty acid elongation (GO:0030497)3.65730405
29organic cation transport (GO:0015695)3.63389765
30binding of sperm to zona pellucida (GO:0007339)3.58249129
31intra-S DNA damage checkpoint (GO:0031573)3.54927401
32cilium movement (GO:0003341)3.54064026
33relaxation of smooth muscle (GO:0044557)3.52234149
34base-excision repair, AP site formation (GO:0006285)3.49477091
35DNA damage response, detection of DNA damage (GO:0042769)3.49378402
36positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.48838423
37ubiquinone metabolic process (GO:0006743)3.47213449
38preassembly of GPI anchor in ER membrane (GO:0016254)3.46353352
39epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.36190950
40regulation of dopamine secretion (GO:0014059)3.35600656
41axonemal dynein complex assembly (GO:0070286)3.30778675
42single fertilization (GO:0007338)3.28025612
43cell-cell recognition (GO:0009988)3.27266100
44DNA double-strand break processing (GO:0000729)3.25025312
45L-fucose catabolic process (GO:0042355)3.23312804
46fucose catabolic process (GO:0019317)3.23312804
47L-fucose metabolic process (GO:0042354)3.23312804
48histone H4-K12 acetylation (GO:0043983)3.22389219
49DNA integration (GO:0015074)3.19380865
50quinone biosynthetic process (GO:1901663)3.19376526
51response to nitrosative stress (GO:0051409)3.15922390
52reproduction (GO:0000003)3.15797532
53intraciliary transport (GO:0042073)3.14455218
54regulation of protein kinase A signaling (GO:0010738)3.12919291
55mannosylation (GO:0097502)3.12163004
56cilium morphogenesis (GO:0060271)3.10060248
57cellular ketone body metabolic process (GO:0046950)3.09658277
58zinc ion homeostasis (GO:0055069)3.08036500
59seminiferous tubule development (GO:0072520)3.03199167
60coenzyme catabolic process (GO:0009109)3.00335936
61protein polyglutamylation (GO:0018095)2.97756710
62RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.96791919
63tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.96791919
64serine family amino acid catabolic process (GO:0009071)2.92757131
65methionine biosynthetic process (GO:0009086)2.88178266
66negative regulation of reactive oxygen species metabolic process (GO:2000378)2.86241802
67indolalkylamine metabolic process (GO:0006586)2.82606915
68gene silencing by RNA (GO:0031047)2.82301052
69cellular biogenic amine catabolic process (GO:0042402)2.82160326
70amine catabolic process (GO:0009310)2.82160326
71detection of chemical stimulus involved in sensory perception of smell (GO:0050911)2.81433435
72platelet dense granule organization (GO:0060155)2.80981222
73male meiosis I (GO:0007141)2.78605061
74cellular zinc ion homeostasis (GO:0006882)2.77760020
75synapsis (GO:0007129)2.74072298
76regulation of cellular respiration (GO:0043457)2.74061858
77androgen biosynthetic process (GO:0006702)2.72611254
78regulation of oxidative stress-induced neuron death (GO:1903203)2.72320918
79proteasome assembly (GO:0043248)2.71302056
80regulation of rhodopsin mediated signaling pathway (GO:0022400)2.70997528
81membrane tubulation (GO:0097320)2.69999227
82ketone body metabolic process (GO:1902224)2.69633820
83tongue development (GO:0043586)2.67378201
84GPI anchor metabolic process (GO:0006505)2.65636253
85regulation of autophagic vacuole assembly (GO:2000785)2.65278539
86mitochondrion morphogenesis (GO:0070584)2.63519479
87cellular response to zinc ion (GO:0071294)2.63396649
88kidney morphogenesis (GO:0060993)2.62956498
89tryptophan metabolic process (GO:0006568)2.62236883
90rhodopsin mediated signaling pathway (GO:0016056)2.61877366
91detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.57853578
92cilium organization (GO:0044782)2.57588626
93myoblast migration (GO:0051451)2.56852965
94sulfation (GO:0051923)2.56787151
95DNA methylation involved in gamete generation (GO:0043046)2.56668703
96estrogen biosynthetic process (GO:0006703)2.52912103
97methionine metabolic process (GO:0006555)2.51069605
98cilium assembly (GO:0042384)2.49423104
99neuromuscular synaptic transmission (GO:0007274)2.48314505
100negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.48057671

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.43297602
2ZNF274_21170338_ChIP-Seq_K562_Hela3.95839579
3IGF1R_20145208_ChIP-Seq_DFB_Human3.93699115
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.75958463
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.67429481
6VDR_22108803_ChIP-Seq_LS180_Human3.52607036
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.46532496
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.25437158
9FUS_26573619_Chip-Seq_HEK293_Human2.80813147
10GBX2_23144817_ChIP-Seq_PC3_Human2.53068207
11EZH2_22144423_ChIP-Seq_EOC_Human2.48110540
12CTBP1_25329375_ChIP-Seq_LNCAP_Human2.42703783
13CTBP2_25329375_ChIP-Seq_LNCAP_Human2.35912625
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.28846169
15RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.16092029
16ER_23166858_ChIP-Seq_MCF-7_Human2.06988629
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.05343549
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02719886
19P300_19829295_ChIP-Seq_ESCs_Human1.96513275
20ZFP57_27257070_Chip-Seq_ESCs_Mouse1.96223578
21IRF1_19129219_ChIP-ChIP_H3396_Human1.79134624
22TAF15_26573619_Chip-Seq_HEK293_Human1.75749792
23CBP_20019798_ChIP-Seq_JUKART_Human1.69295871
24IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.69295871
25KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.60225254
26EWS_26573619_Chip-Seq_HEK293_Human1.58793811
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.55397315
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.55309748
29MYC_18940864_ChIP-ChIP_HL60_Human1.53468526
30POU3F2_20337985_ChIP-ChIP_501MEL_Human1.46778309
31KLF5_20875108_ChIP-Seq_MESCs_Mouse1.44765700
32UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42819128
33TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41690340
34POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.41690340
35AR_21572438_ChIP-Seq_LNCaP_Human1.41383424
36NANOG_20526341_ChIP-Seq_ESCs_Human1.40064244
37SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39881304
38PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.38964125
39EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.36124296
40BCAT_22108803_ChIP-Seq_LS180_Human1.34673923
41ESR1_20079471_ChIP-ChIP_T-47D_Human1.34438368
42EST1_17652178_ChIP-ChIP_JURKAT_Human1.33080556
43CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.30241512
44AR_20517297_ChIP-Seq_VCAP_Human1.29479750
45MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.28438501
46NANOG_19829295_ChIP-Seq_ESCs_Human1.27903110
47SOX2_19829295_ChIP-Seq_ESCs_Human1.27903110
48NOTCH1_21737748_ChIP-Seq_TLL_Human1.26473450
49RUNX2_22187159_ChIP-Seq_PCA_Human1.25405335
50CBX2_27304074_Chip-Seq_ESCs_Mouse1.24271691
51SMAD4_21799915_ChIP-Seq_A2780_Human1.24123222
52AR_25329375_ChIP-Seq_VCAP_Human1.23333998
53JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.22611510
54AUTS2_25519132_ChIP-Seq_293T-REX_Human1.21125558
55TP53_22573176_ChIP-Seq_HFKS_Human1.20673244
56VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.20221189
57GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.18993989
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.18929331
59EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.18405293
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14292441
61PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13686170
62ERA_21632823_ChIP-Seq_H3396_Human1.13403071
63ETS1_20019798_ChIP-Seq_JURKAT_Human1.11893950
64RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.10375942
65STAT3_23295773_ChIP-Seq_U87_Human1.10240968
66TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10157536
67MYC_19829295_ChIP-Seq_ESCs_Human1.09954615
68SMAD3_21741376_ChIP-Seq_EPCs_Human1.09434612
69SRF_21415370_ChIP-Seq_HL-1_Mouse1.08399446
70FLI1_27457419_Chip-Seq_LIVER_Mouse1.08132615
71CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.07225582
72NCOR_22424771_ChIP-Seq_293T_Human1.06789150
73SMAD4_21741376_ChIP-Seq_EPCs_Human1.06742719
74GATA3_21878914_ChIP-Seq_MCF-7_Human1.05385171
75VDR_23849224_ChIP-Seq_CD4+_Human1.03678031
76ELK1_19687146_ChIP-ChIP_HELA_Human1.02632143
77HOXB7_26014856_ChIP-Seq_BT474_Human1.02433908
78FOXH1_21741376_ChIP-Seq_EPCs_Human1.02420856
79ERG_20517297_ChIP-Seq_VCAP_Human1.00877911
80EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.00545446
81BMI1_23680149_ChIP-Seq_NPCS_Mouse1.00398705
82CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.99116268
83TCF4_22108803_ChIP-Seq_LS180_Human0.98136408
84WDR5_24793694_ChIP-Seq_LNCAP_Human0.97726111
85FOXA1_21572438_ChIP-Seq_LNCaP_Human0.97003659
86PRDM14_20953172_ChIP-Seq_ESCs_Human0.96095988
87EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.95155236
88TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95124128
89MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94185514
90TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.92510465
91FOXA1_27270436_Chip-Seq_PROSTATE_Human0.92240988
92FOXA1_25329375_ChIP-Seq_VCAP_Human0.92240988
93RAC3_21632823_ChIP-Seq_H3396_Human0.91267033
94NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90979332
95CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.89670312
96OCT1_27270436_Chip-Seq_PROSTATE_Human0.88888835
97OCT4_20526341_ChIP-Seq_ESCs_Human0.88808255
98TCF4_23295773_ChIP-Seq_U87_Human0.88243280
99GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.87891798
100TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.87777791

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization4.81782842
2MP0002102_abnormal_ear_morphology3.95821187
3MP0005646_abnormal_pituitary_gland3.29978874
4MP0003950_abnormal_plasma_membrane3.19388597
5MP0008004_abnormal_stomach_pH3.01224870
6MP0003315_abnormal_perineum_morphology2.96041447
7MP0005499_abnormal_olfactory_system2.59641475
8MP0005394_taste/olfaction_phenotype2.59641475
9MP0008789_abnormal_olfactory_epithelium2.50153762
10MP0001968_abnormal_touch/_nociception2.44455377
11MP0006072_abnormal_retinal_apoptosis2.34739896
12MP0010030_abnormal_orbit_morphology2.13495489
13MP0002160_abnormal_reproductive_system2.05028914
14MP0005551_abnormal_eye_electrophysiolog2.02212283
15MP0002736_abnormal_nociception_after2.00627567
16MP0001984_abnormal_olfaction2.00616491
17MP0001929_abnormal_gametogenesis1.94817478
18MP0003698_abnormal_male_reproductive1.84527339
19MP0002653_abnormal_ependyma_morphology1.80158996
20MP0005253_abnormal_eye_physiology1.79052287
21MP0010368_abnormal_lymphatic_system1.77525212
22MP0008877_abnormal_DNA_methylation1.76866148
23MP0003718_maternal_effect1.74846571
24MP0008875_abnormal_xenobiotic_pharmacok1.73173337
25MP0009697_abnormal_copulation1.73110593
26MP0005248_abnormal_Harderian_gland1.68970986
27MP0000631_abnormal_neuroendocrine_gland1.63464685
28MP0003880_abnormal_central_pattern1.62820794
29MP0002837_dystrophic_cardiac_calcinosis1.60090080
30MP0001905_abnormal_dopamine_level1.51634883
31MP0001661_extended_life_span1.48116929
32MP0000049_abnormal_middle_ear1.48086127
33MP0008995_early_reproductive_senescence1.47207977
34MP0001764_abnormal_homeostasis1.42166541
35MP0006276_abnormal_autonomic_nervous1.38247026
36MP0001188_hyperpigmentation1.36728629
37MP0002234_abnormal_pharynx_morphology1.34559857
38MP0000750_abnormal_muscle_regeneration1.34188685
39MP0004885_abnormal_endolymph1.28969025
40MP0002735_abnormal_chemical_nociception1.27733003
41MP0008872_abnormal_physiological_respon1.23218327
42MP0005075_abnormal_melanosome_morpholog1.20635966
43MP0005360_urolithiasis1.20377782
44MP0002210_abnormal_sex_determination1.19836403
45MP0002272_abnormal_nervous_system1.18858449
46MP0009745_abnormal_behavioral_response1.18852944
47MP0001986_abnormal_taste_sensitivity1.14872452
48MP0003567_abnormal_fetal_cardiomyocyte1.12811081
49MP0000653_abnormal_sex_gland1.12575585
50MP0000026_abnormal_inner_ear1.11966423
51MP0004147_increased_porphyrin_level1.11612634
52MP0001501_abnormal_sleep_pattern1.11464826
53MP0005187_abnormal_penis_morphology1.11263028
54MP0002295_abnormal_pulmonary_circulatio1.09186187
55MP0006036_abnormal_mitochondrial_physio1.09164595
56MP0008058_abnormal_DNA_repair1.08808328
57MP0005389_reproductive_system_phenotype1.08793638
58MP0009046_muscle_twitch1.07970201
59MP0010386_abnormal_urinary_bladder1.07275599
60MP0003136_yellow_coat_color1.06025018
61MP0002127_abnormal_cardiovascular_syste1.05466811
62MP0001145_abnormal_male_reproductive1.05354631
63MP0001664_abnormal_digestion1.04951338
64MP0002138_abnormal_hepatobiliary_system1.01360819
65MP0003195_calcinosis0.99422479
66MP0002938_white_spotting0.97889858
67MP0005174_abnormal_tail_pigmentation0.97714972
68MP0003011_delayed_dark_adaptation0.97559119
69MP0001485_abnormal_pinna_reflex0.96166560
70MP0002638_abnormal_pupillary_reflex0.95743811
71MP0001963_abnormal_hearing_physiology0.94584899
72MP0002161_abnormal_fertility/fecundity0.92905662
73MP0000749_muscle_degeneration0.90860616
74MP0001486_abnormal_startle_reflex0.90503142
75MP0004145_abnormal_muscle_electrophysio0.89165530
76MP0002751_abnormal_autonomic_nervous0.87590399
77MP0001529_abnormal_vocalization0.86903001
78MP0006292_abnormal_olfactory_placode0.86292307
79MP0005391_vision/eye_phenotype0.86287484
80MP0005195_abnormal_posterior_eye0.85610058
81MP0002233_abnormal_nose_morphology0.85255991
82MP0000566_synostosis0.84243157
83MP0002752_abnormal_somatic_nervous0.83991562
84MP0005647_abnormal_sex_gland0.83278469
85MP0002733_abnormal_thermal_nociception0.80885498
86MP0003936_abnormal_reproductive_system0.80199470
87MP0005084_abnormal_gallbladder_morpholo0.79494490
88MP0002064_seizures0.78010976
89MP0005379_endocrine/exocrine_gland_phen0.76039603
90MP0003252_abnormal_bile_duct0.76019002
91MP0002572_abnormal_emotion/affect_behav0.75217126
92MP0003938_abnormal_ear_development0.75034703
93MP0001970_abnormal_pain_threshold0.74656243
94MP0003806_abnormal_nucleotide_metabolis0.73497319
95MP0004484_altered_response_of0.72810223
96MP0001119_abnormal_female_reproductive0.72577783
97MP0002067_abnormal_sensory_capabilities0.70862707
98MP0004142_abnormal_muscle_tone0.68912126
99MP0004084_abnormal_cardiac_muscle0.68309937
100MP0000230_abnormal_systemic_arterial0.68175779

Predicted human phenotypes

RankGene SetZ-score
1True hermaphroditism (HP:0010459)4.63605913
2Pancreatic fibrosis (HP:0100732)4.39131174
3Pancreatic cysts (HP:0001737)3.92047991
43-Methylglutaconic aciduria (HP:0003535)3.75304896
5Aplasia/hypoplasia of the uterus (HP:0008684)3.62174995
6Duplicated collecting system (HP:0000081)3.48196469
7Large for gestational age (HP:0001520)3.42704457
8Abnormality of the renal collecting system (HP:0004742)3.35659085
9Absent rod-and cone-mediated responses on ERG (HP:0007688)3.21150858
10Molar tooth sign on MRI (HP:0002419)3.16263938
11Abnormality of midbrain morphology (HP:0002418)3.16263938
12Male pseudohermaphroditism (HP:0000037)3.11337595
13Decreased activity of mitochondrial respiratory chain (HP:0008972)3.10588383
14Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.10588383
15Cystic liver disease (HP:0006706)2.95448723
16Sex reversal (HP:0012245)2.94623776
17Abnormal sex determination (HP:0012244)2.94623776
18Congenital stationary night blindness (HP:0007642)2.91893183
19Hepatocellular necrosis (HP:0001404)2.90815578
20Abnormal rod and cone electroretinograms (HP:0008323)2.88386430
21Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.86400456
22Aplasia/Hypoplasia of the tongue (HP:0010295)2.83858743
23Hypoplasia of the uterus (HP:0000013)2.79280598
24Cerebral hypomyelination (HP:0006808)2.76939888
25Absent/shortened dynein arms (HP:0200106)2.70537711
26Dynein arm defect of respiratory motile cilia (HP:0012255)2.70537711
27Reduced antithrombin III activity (HP:0001976)2.66816149
28Nephronophthisis (HP:0000090)2.66429327
29Atonic seizures (HP:0010819)2.59618031
30Hepatic necrosis (HP:0002605)2.59221257
31Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.57361083
32Abnormality of alanine metabolism (HP:0010916)2.57361083
33Hyperalaninemia (HP:0003348)2.57361083
34Inability to walk (HP:0002540)2.57207550
35Chronic hepatic failure (HP:0100626)2.55426642
36Dyschromatopsia (HP:0007641)2.55103743
37Retinal dysplasia (HP:0007973)2.52259235
38Abnormal respiratory motile cilium physiology (HP:0012261)2.49041968
39Attenuation of retinal blood vessels (HP:0007843)2.48811312
40Abnormal ciliary motility (HP:0012262)2.48433397
41Abolished electroretinogram (ERG) (HP:0000550)2.44537144
42Anencephaly (HP:0002323)2.41634017
43Type II lissencephaly (HP:0007260)2.40487725
44Decreased central vision (HP:0007663)2.39502703
45Sclerocornea (HP:0000647)2.38932736
46B lymphocytopenia (HP:0010976)2.38193793
47Abnormality of B cell number (HP:0010975)2.35601593
48Severe visual impairment (HP:0001141)2.34641963
49Adactyly (HP:0009776)2.33999447
50Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.33503301
51Mitochondrial inheritance (HP:0001427)2.31914244
52Lipid accumulation in hepatocytes (HP:0006561)2.29968510
53Abnormal respiratory motile cilium morphology (HP:0005938)2.29251247
54Abnormal respiratory epithelium morphology (HP:0012253)2.29251247
55Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.28457665
56Abnormal protein N-linked glycosylation (HP:0012347)2.28457665
57Abnormal protein glycosylation (HP:0012346)2.28457665
58Abnormal glycosylation (HP:0012345)2.28457665
59Unsteady gait (HP:0002317)2.25697792
60Cerebellar dysplasia (HP:0007033)2.25219661
61Scotoma (HP:0000575)2.24896695
62Abnormality of the pons (HP:0007361)2.24402963
63Protruding tongue (HP:0010808)2.21256361
64Abnormality of the renal medulla (HP:0100957)2.19325449
65Gonadal dysgenesis (HP:0000133)2.18237253
66Renal cortical cysts (HP:0000803)2.15976830
67Increased CSF lactate (HP:0002490)2.15780699
68Congenital hepatic fibrosis (HP:0002612)2.14940195
69Occipital encephalocele (HP:0002085)2.14781387
70Bile duct proliferation (HP:0001408)2.14356184
71Abnormal biliary tract physiology (HP:0012439)2.14356184
72Postnatal microcephaly (HP:0005484)2.11329553
73Optic nerve hypoplasia (HP:0000609)2.10268281
74Abnormality of macular pigmentation (HP:0008002)2.10092127
75Furrowed tongue (HP:0000221)2.07938921
76Central scotoma (HP:0000603)2.05383804
77Exercise-induced muscle cramps (HP:0003710)2.02738376
78Type 2 muscle fiber atrophy (HP:0003554)1.95551902
79Abnormality of the renal cortex (HP:0011035)1.95285245
80Absent speech (HP:0001344)1.94464351
81Increased serum lactate (HP:0002151)1.94262517
82Hyperglycinuria (HP:0003108)1.92547342
83Widely spaced teeth (HP:0000687)1.90862782
84Gaze-evoked nystagmus (HP:0000640)1.89253325
85Exercise-induced myalgia (HP:0003738)1.89237793
86Hyperglycinemia (HP:0002154)1.88583906
87Postaxial foot polydactyly (HP:0001830)1.88180846
88Medial flaring of the eyebrow (HP:0010747)1.87518075
89Severe muscular hypotonia (HP:0006829)1.86453741
90Abnormality of the columella (HP:0009929)1.83770828
91Pendular nystagmus (HP:0012043)1.83515814
92Aplastic anemia (HP:0001915)1.81216148
93Progressive microcephaly (HP:0000253)1.80757851
94CNS demyelination (HP:0007305)1.80221913
95Congenital primary aphakia (HP:0007707)1.76264618
96Optic disc pallor (HP:0000543)1.74957150
97Febrile seizures (HP:0002373)1.74064126
98Gait imbalance (HP:0002141)1.71592141
99Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.70706643
100Pachygyria (HP:0001302)1.70513134

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK17.84922855
2ZAK3.45656006
3MARK33.29751864
4TLK13.28033726
5BCKDK2.90698810
6ADRBK22.39704707
7AKT32.38176126
8MAP4K22.04312365
9GRK12.00624787
10MAP2K72.00590036
11LATS11.89709359
12VRK11.77023444
13CSNK1G11.74525015
14OBSCN1.71861509
15BMPR1B1.65865780
16CSNK1G31.64717002
17FRK1.62722117
18INSRR1.61632023
19CSNK1A1L1.55184446
20CDK191.40864090
21RPS6KA51.40283097
22MYLK1.37522453
23CSNK1G21.25576358
24NUAK11.23800448
25CCNB11.20841292
26TRIM281.19289051
27PRKCQ1.18282425
28CASK1.16837944
29VRK21.11187753
30TAF11.08983865
31SGK4941.05432750
32SGK2231.05432750
33SGK20.99469631
34MAP3K90.97160524
35MAP3K40.95847298
36PTK2B0.95523639
37EIF2AK30.94159510
38ERBB30.93788140
39BCR0.93636641
40ILK0.92536734
41KSR10.92497853
42RPS6KA40.89507295
43IRAK40.86089332
44NEK20.85493248
45PIK3CG0.79050871
46WNK30.77827031
47BRAF0.75828501
48STK38L0.75475771
49FLT30.73154368
50STK390.73074571
51PAK30.72829205
52ARAF0.71644669
53STK380.68539137
54DYRK20.67571362
55MAPK130.66337318
56TIE10.64507449
57DAPK10.63718300
58PRKCI0.62765797
59TGFBR10.62496148
60KIT0.60870598
61CDK80.59772140
62CDK30.55817791
63NTRK20.55478216
64CSNK1A10.53716496
65WNK40.53443219
66OXSR10.52163214
67ADRBK10.50611468
68DAPK20.50429827
69PIK3CA0.49237193
70PRKCE0.48340397
71NLK0.47838388
72PRKD20.46364275
73MAPKAPK30.44047332
74TNK20.41334354
75PHKG20.37811238
76PHKG10.37811238
77SYK0.37093170
78PLK20.37092885
79MKNK10.36592495
80CAMK2A0.36038859
81PAK10.35415651
82MAP3K50.35046010
83TXK0.34939224
84PRKG10.34869168
85MAP3K10.30758636
86DYRK30.30694455
87MAP2K40.30622586
88MAP2K60.30440965
89CDC70.28817117
90SRPK10.28680570
91TAOK30.26849614
92PRKCG0.26766612
93RAF10.26174616
94SGK30.26160738
95CAMK2B0.25602199
96MAPK150.25546985
97MINK10.25454998
98PAK60.25452103
99MUSK0.24234416
100CSNK1D0.23474470

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.44307650
2Phototransduction_Homo sapiens_hsa047443.00542315
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.91981431
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.82847834
5Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.45844831
6Butanoate metabolism_Homo sapiens_hsa006502.44989863
7Oxidative phosphorylation_Homo sapiens_hsa001902.39588263
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.37366463
9Parkinsons disease_Homo sapiens_hsa050122.19873013
10Hedgehog signaling pathway_Homo sapiens_hsa043402.18858567
11Olfactory transduction_Homo sapiens_hsa047402.18530943
12Basal transcription factors_Homo sapiens_hsa030222.08145867
13Propanoate metabolism_Homo sapiens_hsa006402.03155763
14Regulation of autophagy_Homo sapiens_hsa041401.96259365
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.82157481
16Proteasome_Homo sapiens_hsa030501.79072856
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.74224082
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.71736122
19Peroxisome_Homo sapiens_hsa041461.59483585
20Chemical carcinogenesis_Homo sapiens_hsa052041.58329408
21Ribosome_Homo sapiens_hsa030101.57474522
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.52177278
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.50289581
24RNA polymerase_Homo sapiens_hsa030201.44636740
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.41788829
26Fatty acid elongation_Homo sapiens_hsa000621.41128428
27Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.38632985
28Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.36757921
29Primary immunodeficiency_Homo sapiens_hsa053401.34931547
30Base excision repair_Homo sapiens_hsa034101.34005881
31Gap junction_Homo sapiens_hsa045401.33462009
32Linoleic acid metabolism_Homo sapiens_hsa005911.30298711
33Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.28031530
34Caffeine metabolism_Homo sapiens_hsa002321.27693616
35Alzheimers disease_Homo sapiens_hsa050101.23603905
36Tryptophan metabolism_Homo sapiens_hsa003801.23540299
37alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.23388602
38Purine metabolism_Homo sapiens_hsa002301.22080610
39Huntingtons disease_Homo sapiens_hsa050161.21284002
40Nicotine addiction_Homo sapiens_hsa050331.19545211
41Taste transduction_Homo sapiens_hsa047421.16267530
42Homologous recombination_Homo sapiens_hsa034401.15513098
43Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.14857533
44RNA degradation_Homo sapiens_hsa030181.13135329
45Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.10231159
46Systemic lupus erythematosus_Homo sapiens_hsa053221.07527524
47Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.01152710
48Protein export_Homo sapiens_hsa030601.00900017
49Cysteine and methionine metabolism_Homo sapiens_hsa002700.96821879
50Steroid biosynthesis_Homo sapiens_hsa001000.96721112
51Cardiac muscle contraction_Homo sapiens_hsa042600.94234873
52Pyrimidine metabolism_Homo sapiens_hsa002400.91266111
53Glutathione metabolism_Homo sapiens_hsa004800.86622250
54Pyruvate metabolism_Homo sapiens_hsa006200.86183310
55Alcoholism_Homo sapiens_hsa050340.84859741
56Metabolic pathways_Homo sapiens_hsa011000.82146795
57Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81594178
58Fanconi anemia pathway_Homo sapiens_hsa034600.80183183
59Pentose and glucuronate interconversions_Homo sapiens_hsa000400.80098930
60Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.76958341
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.76035704
62Retinol metabolism_Homo sapiens_hsa008300.75183674
63Selenocompound metabolism_Homo sapiens_hsa004500.74776063
64Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.74480045
65Fatty acid biosynthesis_Homo sapiens_hsa000610.72861504
66Oocyte meiosis_Homo sapiens_hsa041140.67210741
67Dorso-ventral axis formation_Homo sapiens_hsa043200.65486018
68Circadian rhythm_Homo sapiens_hsa047100.65139304
69Vascular smooth muscle contraction_Homo sapiens_hsa042700.63068128
70One carbon pool by folate_Homo sapiens_hsa006700.61840193
71Arachidonic acid metabolism_Homo sapiens_hsa005900.61687419
72Ether lipid metabolism_Homo sapiens_hsa005650.61506433
73Glycerolipid metabolism_Homo sapiens_hsa005610.60616916
74Mineral absorption_Homo sapiens_hsa049780.57270674
75Collecting duct acid secretion_Homo sapiens_hsa049660.56876347
76Calcium signaling pathway_Homo sapiens_hsa040200.55243828
77beta-Alanine metabolism_Homo sapiens_hsa004100.55082556
78Primary bile acid biosynthesis_Homo sapiens_hsa001200.54093226
79Phagosome_Homo sapiens_hsa041450.53649524
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52101494
81Circadian entrainment_Homo sapiens_hsa047130.52044270
82Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.51302804
83Fatty acid degradation_Homo sapiens_hsa000710.50433092
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47892487
85Basal cell carcinoma_Homo sapiens_hsa052170.46632338
86Ovarian steroidogenesis_Homo sapiens_hsa049130.46160551
87RNA transport_Homo sapiens_hsa030130.44604898
88Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.44008814
89Fatty acid metabolism_Homo sapiens_hsa012120.43439280
90GABAergic synapse_Homo sapiens_hsa047270.41226398
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40976962
92Arginine biosynthesis_Homo sapiens_hsa002200.40731388
93Apoptosis_Homo sapiens_hsa042100.40614556
94Oxytocin signaling pathway_Homo sapiens_hsa049210.37211337
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.32767799
96Drug metabolism - other enzymes_Homo sapiens_hsa009830.32663731
97Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32488045
98Spliceosome_Homo sapiens_hsa030400.31046337
99Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30367453
100Salivary secretion_Homo sapiens_hsa049700.28500377

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