C1ORF52

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
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.46667675
2proteasome assembly (GO:0043248)4.43508948
3establishment of protein localization to mitochondrial membrane (GO:0090151)4.27369205
4protein neddylation (GO:0045116)4.25559646
5cullin deneddylation (GO:0010388)4.25462039
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.16847451
7mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.12931308
8mitochondrial respiratory chain complex I assembly (GO:0032981)4.12931308
9NADH dehydrogenase complex assembly (GO:0010257)4.12931308
10chaperone-mediated protein transport (GO:0072321)4.12015631
11protein complex biogenesis (GO:0070271)4.01504813
12ATP synthesis coupled proton transport (GO:0015986)3.95442801
13energy coupled proton transport, down electrochemical gradient (GO:0015985)3.95442801
14protein deneddylation (GO:0000338)3.91078560
15mitochondrial respiratory chain complex assembly (GO:0033108)3.79618878
16nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.78730493
17exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.77606305
18transcription elongation from RNA polymerase III promoter (GO:0006385)3.75083012
19termination of RNA polymerase III transcription (GO:0006386)3.75083012
20protein-cofactor linkage (GO:0018065)3.74709548
21DNA damage response, detection of DNA damage (GO:0042769)3.74125601
22respiratory electron transport chain (GO:0022904)3.51368566
23electron transport chain (GO:0022900)3.45924051
24respiratory chain complex IV assembly (GO:0008535)3.45618729
25platelet dense granule organization (GO:0060155)3.41241367
26regulation of mitotic spindle checkpoint (GO:1903504)3.39728816
27regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.39728816
28DNA double-strand break processing (GO:0000729)3.39373432
29organelle disassembly (GO:1903008)3.37701302
30chromatin remodeling at centromere (GO:0031055)3.33799112
31CENP-A containing nucleosome assembly (GO:0034080)3.24276160
32negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.22547139
33rRNA modification (GO:0000154)3.11907850
34positive regulation of mitochondrial fission (GO:0090141)3.10177401
35regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.08891843
36positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.06070610
37protein localization to mitochondrion (GO:0070585)3.03863338
38regulation of helicase activity (GO:0051095)3.03748771
39ribonucleoprotein complex disassembly (GO:0032988)3.03632280
40histone mRNA metabolic process (GO:0008334)3.03607237
41RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.02946622
42tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.02946622
43protein targeting to mitochondrion (GO:0006626)3.01542086
44water-soluble vitamin biosynthetic process (GO:0042364)2.98580199
45pseudouridine synthesis (GO:0001522)2.98383674
46protein K11-linked ubiquitination (GO:0070979)2.91311923
47replication fork processing (GO:0031297)2.90875336
48cytochrome complex assembly (GO:0017004)2.90260257
49negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.89110697
50negative regulation of ligase activity (GO:0051352)2.89110697
51establishment of protein localization to mitochondrion (GO:0072655)2.86382221
52anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.83929342
53peptidyl-histidine modification (GO:0018202)2.80904597
54positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.78417511
55maturation of 5.8S rRNA (GO:0000460)2.78085440
56spliceosomal snRNP assembly (GO:0000387)2.78077122
57histone exchange (GO:0043486)2.77018563
58single strand break repair (GO:0000012)2.76776502
597-methylguanosine mRNA capping (GO:0006370)2.74532767
60anterograde synaptic vesicle transport (GO:0048490)2.71919419
61regulation of cellular amino acid metabolic process (GO:0006521)2.69706898
62RNA capping (GO:0036260)2.66584276
637-methylguanosine RNA capping (GO:0009452)2.66584276
64regulation of meiosis I (GO:0060631)2.65509881
65somatic hypermutation of immunoglobulin genes (GO:0016446)2.65490352
66somatic diversification of immune receptors via somatic mutation (GO:0002566)2.65490352
67negative regulation of DNA-dependent DNA replication (GO:2000104)2.65469434
68negative regulation of telomere maintenance (GO:0032205)2.65216769
69positive regulation of ligase activity (GO:0051351)2.65155244
70transcription from RNA polymerase III promoter (GO:0006383)2.64900873
71tRNA processing (GO:0008033)2.62776564
72inner mitochondrial membrane organization (GO:0007007)2.61699616
73resolution of meiotic recombination intermediates (GO:0000712)2.61450030
74negative regulation of DNA recombination (GO:0045910)2.61196835
75protein polyglutamylation (GO:0018095)2.61069875
76DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.60699842
77signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.57048355
78signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.57048355
79signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.57048355
80regulation of cilium movement (GO:0003352)2.56850635
81oxidative phosphorylation (GO:0006119)2.53715304
82L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.52603874
83intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.51295956
84signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.51295956
85pyrimidine nucleobase catabolic process (GO:0006208)2.49563331
86rRNA methylation (GO:0031167)2.49487622
87regulation of mitochondrial translation (GO:0070129)2.49081658
88hydrogen ion transmembrane transport (GO:1902600)2.49070768
89ubiquinone metabolic process (GO:0006743)2.48276015
90signal transduction involved in cell cycle checkpoint (GO:0072395)2.47705532
91regulation of ubiquitin-protein transferase activity (GO:0051438)2.47282148
92ribosomal large subunit biogenesis (GO:0042273)2.47268485
93intracellular protein transmembrane import (GO:0044743)2.47166933
94tRNA metabolic process (GO:0006399)2.46517384
95DNA deamination (GO:0045006)2.46205027
96histone H2A acetylation (GO:0043968)2.45850699
97DNA-templated transcription, termination (GO:0006353)2.45046888
98mannosylation (GO:0097502)2.44801547
99regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.44575589
100signal transduction involved in DNA integrity checkpoint (GO:0072401)2.44066640

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.49309391
2* GABP_17652178_ChIP-ChIP_JURKAT_Human4.09722168
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.62074750
4HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.28589299
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.91404287
6CREB1_15753290_ChIP-ChIP_HEK293T_Human2.83208340
7ZNF274_21170338_ChIP-Seq_K562_Hela2.76709646
8ELK1_19687146_ChIP-ChIP_HELA_Human2.73797111
9MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.57846683
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.56519631
11JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.54052744
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.49298401
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.40056967
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.38546237
15VDR_23849224_ChIP-Seq_CD4+_Human2.36640880
16E2F4_17652178_ChIP-ChIP_JURKAT_Human2.24602975
17VDR_22108803_ChIP-Seq_LS180_Human2.24333321
18FUS_26573619_Chip-Seq_HEK293_Human2.23871430
19IGF1R_20145208_ChIP-Seq_DFB_Human2.23489744
20EWS_26573619_Chip-Seq_HEK293_Human2.22668663
21POU3F2_20337985_ChIP-ChIP_501MEL_Human2.11452970
22PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97923494
23MYC_18555785_ChIP-Seq_MESCs_Mouse1.97470124
24SALL1_21062744_ChIP-ChIP_HESCs_Human1.95831976
25TAF15_26573619_Chip-Seq_HEK293_Human1.91130200
26FOXP3_21729870_ChIP-Seq_TREG_Human1.88241884
27MYC_18940864_ChIP-ChIP_HL60_Human1.81437295
28ZFP57_27257070_Chip-Seq_ESCs_Mouse1.80191349
29NOTCH1_21737748_ChIP-Seq_TLL_Human1.79033607
30FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.76494435
31GBX2_23144817_ChIP-Seq_PC3_Human1.74500448
32PADI4_21655091_ChIP-ChIP_MCF-7_Human1.72457738
33FLI1_27457419_Chip-Seq_LIVER_Mouse1.69392732
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.64677988
35DCP1A_22483619_ChIP-Seq_HELA_Human1.61717517
36PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.59838020
37P300_19829295_ChIP-Seq_ESCs_Human1.58929510
38POU5F1_16153702_ChIP-ChIP_HESCs_Human1.57475337
39THAP11_20581084_ChIP-Seq_MESCs_Mouse1.56410728
40SRF_21415370_ChIP-Seq_HL-1_Mouse1.53246550
41GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.51896921
42TTF2_22483619_ChIP-Seq_HELA_Human1.50751785
43HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.50735206
44CTBP2_25329375_ChIP-Seq_LNCAP_Human1.50285035
45* GABP_19822575_ChIP-Seq_HepG2_Human1.49143771
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44636457
47CTBP1_25329375_ChIP-Seq_LNCAP_Human1.42105844
48IRF1_19129219_ChIP-ChIP_H3396_Human1.41974790
49MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.41513292
50RBPJ_22232070_ChIP-Seq_NCS_Mouse1.39875965
51MYC_19030024_ChIP-ChIP_MESCs_Mouse1.39463638
52ELF1_17652178_ChIP-ChIP_JURKAT_Human1.35081340
53FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.31421346
54TP53_22573176_ChIP-Seq_HFKS_Human1.31318880
55MYC_18358816_ChIP-ChIP_MESCs_Mouse1.28726977
56GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27528546
57* XRN2_22483619_ChIP-Seq_HELA_Human1.27450767
58SOX2_16153702_ChIP-ChIP_HESCs_Human1.27056466
59E2F1_18555785_ChIP-Seq_MESCs_Mouse1.24614328
60ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.23711574
61TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.23376104
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.22961264
63PCGF2_27294783_Chip-Seq_ESCs_Mouse1.22822499
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.20520156
65NELFA_20434984_ChIP-Seq_ESCs_Mouse1.19236245
66EZH2_22144423_ChIP-Seq_EOC_Human1.17943666
67EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.14552816
68KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.13329658
69GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.12581060
70SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.09564693
71CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.09350081
72FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.09324869
73SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07783575
74NANOG_16153702_ChIP-ChIP_HESCs_Human1.05952793
75SOX2_19829295_ChIP-Seq_ESCs_Human1.05393624
76NANOG_19829295_ChIP-Seq_ESCs_Human1.05393624
77RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.05007343
78RNF2_27304074_Chip-Seq_NSC_Mouse1.04572930
79UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04554442
80CBP_20019798_ChIP-Seq_JUKART_Human1.03405734
81IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03405734
82MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.03019116
83ER_23166858_ChIP-Seq_MCF-7_Human1.02505317
84YY1_21170310_ChIP-Seq_MESCs_Mouse1.02312584
85MYC_19079543_ChIP-ChIP_MESCs_Mouse1.01672521
86ELK1_22589737_ChIP-Seq_MCF10A_Human0.97554933
87POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.96865041
88MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.96399756
89HTT_18923047_ChIP-ChIP_STHdh_Human0.94982964
90MYCN_18555785_ChIP-Seq_MESCs_Mouse0.94978751
91ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.94463136
92EZH2_27294783_Chip-Seq_NPCs_Mouse0.93360793
93CBX2_27304074_Chip-Seq_ESCs_Mouse0.93327773
94BMI1_23680149_ChIP-Seq_NPCS_Mouse0.91389456
95POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.89748542
96SUZ12_27294783_Chip-Seq_NPCs_Mouse0.89621130
97CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89395035
98TP63_19390658_ChIP-ChIP_HaCaT_Human0.88652267
99OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87919198
100TOP2B_26459242_ChIP-Seq_MCF-7_Human0.86795090

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002102_abnormal_ear_morphology3.07547288
2MP0008877_abnormal_DNA_methylation3.01085704
3MP0003880_abnormal_central_pattern2.93808373
4MP0008058_abnormal_DNA_repair2.80534062
5MP0006292_abnormal_olfactory_placode2.52894232
6MP0001529_abnormal_vocalization2.52258953
7MP0003787_abnormal_imprinting2.52236643
8MP0003890_abnormal_embryonic-extraembry2.09260670
9MP0003693_abnormal_embryo_hatching2.07746882
10MP0006072_abnormal_retinal_apoptosis2.01742800
11MP0009046_muscle_twitch1.99795255
12MP0002638_abnormal_pupillary_reflex1.94940443
13MP0003121_genomic_imprinting1.91659649
14MP0002736_abnormal_nociception_after1.89812061
15MP0006276_abnormal_autonomic_nervous1.82839869
16MP0001188_hyperpigmentation1.74978073
17MP0002938_white_spotting1.73533980
18MP0005084_abnormal_gallbladder_morpholo1.71513588
19MP0010094_abnormal_chromosome_stability1.70830134
20MP0000372_irregular_coat_pigmentation1.69396784
21MP0003122_maternal_imprinting1.69387573
22MP0009745_abnormal_behavioral_response1.66772566
23MP0005551_abnormal_eye_electrophysiolog1.65264065
24MP0000569_abnormal_digit_pigmentation1.61912383
25MP0001984_abnormal_olfaction1.60546190
26MP0006035_abnormal_mitochondrial_morpho1.60426842
27MP0004142_abnormal_muscle_tone1.60080593
28MP0003011_delayed_dark_adaptation1.58930582
29MP0002277_abnormal_respiratory_mucosa1.55286139
30MP0002272_abnormal_nervous_system1.54640478
31MP0001968_abnormal_touch/_nociception1.54235721
32MP0002837_dystrophic_cardiac_calcinosis1.52564656
33MP0001293_anophthalmia1.50435350
34MP0005253_abnormal_eye_physiology1.50376689
35MP0000778_abnormal_nervous_system1.47829299
36MP0003718_maternal_effect1.45041042
37MP0008789_abnormal_olfactory_epithelium1.42492220
38MP0008995_early_reproductive_senescence1.41690229
39MP0004147_increased_porphyrin_level1.41456511
40MP0006036_abnormal_mitochondrial_physio1.39144270
41MP0003136_yellow_coat_color1.37573883
42MP0004957_abnormal_blastocyst_morpholog1.37048352
43MP0008932_abnormal_embryonic_tissue1.34756603
44MP0001764_abnormal_homeostasis1.32676412
45MP0003786_premature_aging1.32006498
46MP0004859_abnormal_synaptic_plasticity1.31701521
47MP0004133_heterotaxia1.30288217
48MP0000049_abnormal_middle_ear1.30167647
49MP0005499_abnormal_olfactory_system1.30112632
50MP0005394_taste/olfaction_phenotype1.30112632
51MP0001485_abnormal_pinna_reflex1.27304487
52MP0003186_abnormal_redox_activity1.26462923
53MP0009697_abnormal_copulation1.26087063
54MP0002653_abnormal_ependyma_morphology1.24956223
55MP0000631_abnormal_neuroendocrine_gland1.24654143
56MP0001905_abnormal_dopamine_level1.23832167
57MP0002064_seizures1.23808885
58MP0001486_abnormal_startle_reflex1.23700435
59MP0002735_abnormal_chemical_nociception1.23553439
60MP0002572_abnormal_emotion/affect_behav1.22516114
61MP0008007_abnormal_cellular_replicative1.22281940
62MP0003111_abnormal_nucleus_morphology1.21635624
63MP0005423_abnormal_somatic_nervous1.19839314
64MP0003635_abnormal_synaptic_transmissio1.19523873
65MP0003937_abnormal_limbs/digits/tail_de1.18539066
66MP0003077_abnormal_cell_cycle1.18177736
67MP0003567_abnormal_fetal_cardiomyocyte1.17861534
68MP0005187_abnormal_penis_morphology1.10904555
69MP0002557_abnormal_social/conspecific_i1.08755197
70MP0003195_calcinosis1.08229010
71MP0005386_behavior/neurological_phenoty1.07654546
72MP0004924_abnormal_behavior1.07654546
73MP0002734_abnormal_mechanical_nocicepti1.06214750
74MP0002090_abnormal_vision1.05905784
75MP0002160_abnormal_reproductive_system1.05471291
76MP0000647_abnormal_sebaceous_gland1.05266022
77MP0002067_abnormal_sensory_capabilities1.04052403
78MP0002063_abnormal_learning/memory/cond1.03537598
79MP0005367_renal/urinary_system_phenotyp1.02055057
80MP0000516_abnormal_urinary_system1.02055057
81MP0002751_abnormal_autonomic_nervous1.01403685
82MP0008872_abnormal_physiological_respon0.99356149
83MP0001986_abnormal_taste_sensitivity0.99206359
84MP0002210_abnormal_sex_determination0.98844289
85MP0002233_abnormal_nose_morphology0.98153577
86MP0003221_abnormal_cardiomyocyte_apopto0.97433084
87MP0002752_abnormal_somatic_nervous0.97001154
88MP0001286_abnormal_eye_development0.96905847
89MP0004215_abnormal_myocardial_fiber0.94564937
90MP0004270_analgesia0.93647934
91MP0002184_abnormal_innervation0.93494180
92MP0000955_abnormal_spinal_cord0.92714987
93MP0004811_abnormal_neuron_physiology0.92400556
94MP0002095_abnormal_skin_pigmentation0.92110219
95MP0003119_abnormal_digestive_system0.90620457
96MP0005645_abnormal_hypothalamus_physiol0.90560446
97MP0001929_abnormal_gametogenesis0.90058486
98MP0005195_abnormal_posterior_eye0.84826009
99MP0005646_abnormal_pituitary_gland0.83083158
100MP0000653_abnormal_sex_gland0.83068036

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.39952278
2Abnormal mitochondria in muscle tissue (HP:0008316)3.89884412
3Progressive macrocephaly (HP:0004481)3.80210184
4Acute encephalopathy (HP:0006846)3.71012873
5Mitochondrial inheritance (HP:0001427)3.68032018
6Increased CSF lactate (HP:0002490)3.51829167
7Hepatocellular necrosis (HP:0001404)3.23145996
8Pancreatic cysts (HP:0001737)3.21974485
9Abnormality of the labia minora (HP:0012880)3.16836757
10Increased hepatocellular lipid droplets (HP:0006565)2.93154271
11Pancreatic fibrosis (HP:0100732)2.91937719
12Hepatic necrosis (HP:0002605)2.89446363
13Molar tooth sign on MRI (HP:0002419)2.80156647
14Abnormality of midbrain morphology (HP:0002418)2.80156647
153-Methylglutaconic aciduria (HP:0003535)2.77332785
16Abnormality of alanine metabolism (HP:0010916)2.76716984
17Hyperalaninemia (HP:0003348)2.76716984
18Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.76716984
19Lipid accumulation in hepatocytes (HP:0006561)2.75621003
20Cerebral edema (HP:0002181)2.73599683
21True hermaphroditism (HP:0010459)2.71328615
22Medial flaring of the eyebrow (HP:0010747)2.63631559
23Methylmalonic acidemia (HP:0002912)2.56464545
24Increased serum lactate (HP:0002151)2.55951020
25Colon cancer (HP:0003003)2.55746626
26Nephronophthisis (HP:0000090)2.45677579
27Renal Fanconi syndrome (HP:0001994)2.43567805
28Lactic acidosis (HP:0003128)2.36457069
29Type II lissencephaly (HP:0007260)2.23827202
30Optic disc pallor (HP:0000543)2.21466001
31Limb dystonia (HP:0002451)2.20165452
32Leukodystrophy (HP:0002415)2.18939506
33Gait imbalance (HP:0002141)2.18152912
34Methylmalonic aciduria (HP:0012120)2.12866935
35Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.12265358
36Decreased activity of mitochondrial respiratory chain (HP:0008972)2.12265358
37Pendular nystagmus (HP:0012043)2.12261312
38Optic nerve hypoplasia (HP:0000609)2.11298811
39Congenital primary aphakia (HP:0007707)2.10024973
40Lissencephaly (HP:0001339)2.09355240
41Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.07401845
42Nephrogenic diabetes insipidus (HP:0009806)2.05557523
43Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.04989606
44Intestinal atresia (HP:0011100)2.02146678
45Respiratory failure (HP:0002878)2.01940892
46Focal motor seizures (HP:0011153)2.00237421
47Aplasia/Hypoplasia of the tibia (HP:0005772)1.99400051
48Increased serum pyruvate (HP:0003542)1.95559385
49Septo-optic dysplasia (HP:0100842)1.95093914
50Meckel diverticulum (HP:0002245)1.94583429
51Broad-based gait (HP:0002136)1.94412768
52Exercise intolerance (HP:0003546)1.93364651
53Chronic hepatic failure (HP:0100626)1.92702345
54Inability to walk (HP:0002540)1.92308326
55Aplasia/Hypoplasia of the uvula (HP:0010293)1.92281955
56Cerebellar dysplasia (HP:0007033)1.91944857
57Abnormal hair whorl (HP:0010721)1.91826674
58Drooling (HP:0002307)1.91109632
59Myokymia (HP:0002411)1.90668149
60Abnormality of the ileum (HP:0001549)1.90139539
61Short tibia (HP:0005736)1.90012061
62Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.89213329
63Abnormal protein N-linked glycosylation (HP:0012347)1.89213329
64Abnormal protein glycosylation (HP:0012346)1.89213329
65Abnormal glycosylation (HP:0012345)1.89213329
66Abnormality of the anterior horn cell (HP:0006802)1.88599323
67Degeneration of anterior horn cells (HP:0002398)1.88599323
68Abnormality of the renal medulla (HP:0100957)1.88138635
69Abnormality of the pons (HP:0007361)1.86926053
70Sclerocornea (HP:0000647)1.86856804
71Aplasia/Hypoplasia of the tongue (HP:0010295)1.85532755
72CNS demyelination (HP:0007305)1.85188827
73Cerebral hypomyelination (HP:0006808)1.84818482
74X-linked dominant inheritance (HP:0001423)1.84289517
75Birth length less than 3rd percentile (HP:0003561)1.83955890
76Genital tract atresia (HP:0001827)1.83381182
77Type I transferrin isoform profile (HP:0003642)1.82748673
78Hypoplasia of the pons (HP:0012110)1.82136222
79Polyphagia (HP:0002591)1.81217863
80Abnormal lung lobation (HP:0002101)1.80289105
81Increased intramyocellular lipid droplets (HP:0012240)1.77870042
82Progressive inability to walk (HP:0002505)1.77683663
83Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.76956356
84Abnormality of serum amino acid levels (HP:0003112)1.76683452
85Hyperglycinemia (HP:0002154)1.76628317
86Vaginal atresia (HP:0000148)1.76487910
87Exertional dyspnea (HP:0002875)1.76341904
88Atrophy/Degeneration involving motor neurons (HP:0007373)1.74838166
89Abnormal number of erythroid precursors (HP:0012131)1.74576633
90Volvulus (HP:0002580)1.73155883
91Lethargy (HP:0001254)1.73045125
92Atonic seizures (HP:0010819)1.72899096
93Anencephaly (HP:0002323)1.71821498
94Postnatal microcephaly (HP:0005484)1.71208838
95Abnormality of glycolysis (HP:0004366)1.69430048
96Febrile seizures (HP:0002373)1.68902330
97Poor suck (HP:0002033)1.67167285
98Small hand (HP:0200055)1.67034757
99Excessive salivation (HP:0003781)1.67025196
100Retinal dysplasia (HP:0007973)1.66247776

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIM283.37023286
2SRPK12.55452581
3BUB12.54678955
4ZAK2.35005143
5BCR2.32295952
6WNK32.32045428
7MAP4K22.18404643
8CASK2.11127702
9FRK2.02263224
10NUAK12.01592105
11MAP3K41.99165067
12MKNK21.99135172
13BMPR1B1.98447927
14VRK21.94644511
15TSSK61.94092944
16MST41.88561731
17MAP2K71.85766532
18PLK41.84725575
19EIF2AK31.78137378
20PLK31.73575708
21STK161.73359833
22PBK1.72600872
23TNIK1.65235679
24DYRK21.64797762
25VRK11.60806448
26PNCK1.59411809
27MAPK131.59076806
28MKNK11.55688330
29ERBB31.53522446
30DYRK31.47633853
31BRSK21.46614401
32NEK11.43030791
33WEE11.35481527
34BCKDK1.35334524
35MARK11.35166414
36NME11.34470143
37CSNK1G21.34281325
38CSNK1G31.29363508
39CSNK1G11.26663661
40MINK11.26557658
41ADRBK21.25987340
42PLK21.23621205
43PDK21.22373503
44EIF2AK11.21682805
45CDC71.09140837
46CSNK1A1L1.04001868
47EPHA41.03507687
48ACVR1B1.03286035
49TTK1.00437627
50SIK30.98181697
51CDK190.97467200
52PLK10.96283440
53PINK10.93873419
54PRKCG0.90645716
55GRK10.90510473
56OXSR10.83036081
57RPS6KA40.81731776
58PAK30.80707703
59TLK10.77298999
60TAF10.74177549
61ATR0.68382005
62BRSK10.67196055
63PRKCE0.62953323
64STK38L0.61670692
65EIF2AK20.60996663
66LIMK10.59960342
67DYRK1A0.58980373
68CHEK20.56804757
69CCNB10.55454416
70RPS6KA50.54974392
71NTRK20.53554274
72UHMK10.52386347
73MAP3K50.51563554
74MAP3K120.51517346
75CAMK2A0.49899556
76NTRK30.49356739
77CSNK2A10.46784744
78CDK30.46176739
79ADRBK10.45257687
80PKN10.45108939
81AURKB0.44582857
82ATM0.44447366
83MAP2K40.43711955
84CSNK1E0.41449747
85WNK40.41155184
86CAMKK20.40241806
87KSR10.39453334
88STK30.38023907
89CSNK2A20.37823816
90CSNK1A10.35735579
91FGFR10.35598341
92INSRR0.34474633
93STK390.33205436
94GRK50.32540160
95MAP3K90.31522558
96CDK140.31368027
97PIM20.30245659
98GRK70.28924573
99CDK180.28160601
100DAPK20.27911954

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.82655832
2Proteasome_Homo sapiens_hsa030503.68025545
3Protein export_Homo sapiens_hsa030603.40928169
4Parkinsons disease_Homo sapiens_hsa050123.37465958
5RNA polymerase_Homo sapiens_hsa030203.10426707
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.57569788
7Basal transcription factors_Homo sapiens_hsa030222.49972224
8Huntingtons disease_Homo sapiens_hsa050162.38331655
9Ribosome_Homo sapiens_hsa030102.34840504
10Mismatch repair_Homo sapiens_hsa034302.23247198
11Alzheimers disease_Homo sapiens_hsa050102.10232824
12Homologous recombination_Homo sapiens_hsa034402.07797157
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.97176840
14Spliceosome_Homo sapiens_hsa030401.89941975
15RNA degradation_Homo sapiens_hsa030181.87742025
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.85948871
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.81600819
18Nicotine addiction_Homo sapiens_hsa050331.78825690
19Non-homologous end-joining_Homo sapiens_hsa034501.72226970
20Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.70691037
21RNA transport_Homo sapiens_hsa030131.69489272
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.69354791
23Steroid biosynthesis_Homo sapiens_hsa001001.68875647
24Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.67466401
25Fanconi anemia pathway_Homo sapiens_hsa034601.67275631
26DNA replication_Homo sapiens_hsa030301.59290152
27Selenocompound metabolism_Homo sapiens_hsa004501.55116619
28Phototransduction_Homo sapiens_hsa047441.50251866
29Propanoate metabolism_Homo sapiens_hsa006401.46104865
30Cardiac muscle contraction_Homo sapiens_hsa042601.45733729
31Nucleotide excision repair_Homo sapiens_hsa034201.41508386
32Pyrimidine metabolism_Homo sapiens_hsa002401.39152552
33Collecting duct acid secretion_Homo sapiens_hsa049661.38958037
34Base excision repair_Homo sapiens_hsa034101.30600649
35Regulation of autophagy_Homo sapiens_hsa041401.20147544
36One carbon pool by folate_Homo sapiens_hsa006701.17974672
37Purine metabolism_Homo sapiens_hsa002301.15204915
38Butanoate metabolism_Homo sapiens_hsa006501.13078326
39Fatty acid elongation_Homo sapiens_hsa000621.12300254
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.09053400
41Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.08597186
42Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.05866744
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.03390877
44GABAergic synapse_Homo sapiens_hsa047270.95618825
45Sulfur metabolism_Homo sapiens_hsa009200.94606784
46Cell cycle_Homo sapiens_hsa041100.93756302
47Circadian rhythm_Homo sapiens_hsa047100.93712744
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.93625543
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92925337
50Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.90965804
51mRNA surveillance pathway_Homo sapiens_hsa030150.90666502
52Oocyte meiosis_Homo sapiens_hsa041140.89053602
53Pyruvate metabolism_Homo sapiens_hsa006200.87507681
54Nitrogen metabolism_Homo sapiens_hsa009100.85295450
55Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.82015355
56Folate biosynthesis_Homo sapiens_hsa007900.81754202
57Taste transduction_Homo sapiens_hsa047420.81694741
58Morphine addiction_Homo sapiens_hsa050320.78108927
59Vitamin B6 metabolism_Homo sapiens_hsa007500.78077430
60Synaptic vesicle cycle_Homo sapiens_hsa047210.73791308
61Metabolic pathways_Homo sapiens_hsa011000.72966917
62Peroxisome_Homo sapiens_hsa041460.71707522
63Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.71003710
64p53 signaling pathway_Homo sapiens_hsa041150.67969175
65Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.67491394
66Sulfur relay system_Homo sapiens_hsa041220.65615839
67Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.65577686
68Olfactory transduction_Homo sapiens_hsa047400.62575475
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60531607
702-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.54218044
71Dopaminergic synapse_Homo sapiens_hsa047280.52462568
72Glutathione metabolism_Homo sapiens_hsa004800.49616406
73beta-Alanine metabolism_Homo sapiens_hsa004100.47688261
74Hedgehog signaling pathway_Homo sapiens_hsa043400.46108367
75Alcoholism_Homo sapiens_hsa050340.45639909
76Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45297193
77Circadian entrainment_Homo sapiens_hsa047130.43625815
78Cocaine addiction_Homo sapiens_hsa050300.39957731
79Glutamatergic synapse_Homo sapiens_hsa047240.39392499
80Serotonergic synapse_Homo sapiens_hsa047260.39085114
81Tryptophan metabolism_Homo sapiens_hsa003800.34767637
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.34407487
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32092345
84Amphetamine addiction_Homo sapiens_hsa050310.31262058
85Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.29753092
86Linoleic acid metabolism_Homo sapiens_hsa005910.29645260
87Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.29592790
88Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.28240134
89Arginine and proline metabolism_Homo sapiens_hsa003300.26917708
90Ether lipid metabolism_Homo sapiens_hsa005650.24469123
91Basal cell carcinoma_Homo sapiens_hsa052170.21858668
92Carbon metabolism_Homo sapiens_hsa012000.21819502
93Vibrio cholerae infection_Homo sapiens_hsa051100.21614081
94Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.21407974
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.21308574
96TGF-beta signaling pathway_Homo sapiens_hsa043500.20313791
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.18647842
98Biosynthesis of amino acids_Homo sapiens_hsa012300.17390022
99Epstein-Barr virus infection_Homo sapiens_hsa051690.16817671
100Legionellosis_Homo sapiens_hsa051340.14015892

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