C1ORF50

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)5.41580949
2energy coupled proton transport, down electrochemical gradient (GO:0015985)4.83697949
3ATP synthesis coupled proton transport (GO:0015986)4.83697949
4DNA deamination (GO:0045006)4.78281185
5ribonucleoprotein complex disassembly (GO:0032988)4.71033212
6protein neddylation (GO:0045116)4.69711121
7organelle disassembly (GO:1903008)4.65325520
8chaperone-mediated protein transport (GO:0072321)4.65296866
9NADH dehydrogenase complex assembly (GO:0010257)4.53199597
10mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.53199597
11mitochondrial respiratory chain complex I assembly (GO:0032981)4.53199597
12protein complex biogenesis (GO:0070271)4.48974750
13mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.37494768
14respiratory electron transport chain (GO:0022904)4.19510315
15iron-sulfur cluster assembly (GO:0016226)4.13258655
16metallo-sulfur cluster assembly (GO:0031163)4.13258655
17electron transport chain (GO:0022900)4.12154257
18mitochondrial respiratory chain complex assembly (GO:0033108)4.10016122
19sequestering of actin monomers (GO:0042989)3.95136112
20tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.93200779
21RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.93200779
22base-excision repair, AP site formation (GO:0006285)3.90304854
23establishment of protein localization to mitochondrial membrane (GO:0090151)3.85306081
24pyrimidine nucleobase catabolic process (GO:0006208)3.72702885
25pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.72236950
26protein deneddylation (GO:0000338)3.67329993
27positive regulation of mitochondrial fission (GO:0090141)3.66808604
28protein insertion into membrane (GO:0051205)3.66761220
29activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.60146805
30behavioral response to nicotine (GO:0035095)3.59702623
31regulation of sarcomere organization (GO:0060297)3.44869287
32respiratory chain complex IV assembly (GO:0008535)3.42088772
33cullin deneddylation (GO:0010388)3.39088158
34platelet dense granule organization (GO:0060155)3.35570660
35pyrimidine nucleotide catabolic process (GO:0006244)3.33493596
36hydrogen ion transmembrane transport (GO:1902600)3.31353562
37protein targeting to mitochondrion (GO:0006626)3.29188620
38nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.28926454
39proteasome assembly (GO:0043248)3.25463292
40proton transport (GO:0015992)3.21971061
41cytochrome complex assembly (GO:0017004)3.21969380
42exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.20047745
43establishment of protein localization to mitochondrion (GO:0072655)3.16386746
44protein-cofactor linkage (GO:0018065)3.15933486
45hydrogen transport (GO:0006818)3.15733476
46protein localization to mitochondrion (GO:0070585)3.14011048
47preassembly of GPI anchor in ER membrane (GO:0016254)3.13288369
48transcription elongation from RNA polymerase III promoter (GO:0006385)3.13035793
49termination of RNA polymerase III transcription (GO:0006386)3.13035793
50L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.02928216
51mannosylation (GO:0097502)3.00098838
52pseudouridine synthesis (GO:0001522)2.94065206
53cytidine deamination (GO:0009972)2.88759068
54cytidine metabolic process (GO:0046087)2.88759068
55cytidine catabolic process (GO:0006216)2.88759068
56negative regulation of organelle assembly (GO:1902116)2.88013400
57water-soluble vitamin biosynthetic process (GO:0042364)2.86148324
58negative regulation of nitric-oxide synthase activity (GO:0051001)2.85806960
59regulation of cellular amino acid metabolic process (GO:0006521)2.84684197
60peptidyl-histidine modification (GO:0018202)2.84077958
61nucleobase catabolic process (GO:0046113)2.84025741
62ubiquinone biosynthetic process (GO:0006744)2.83789092
63regulation of skeletal muscle contraction (GO:0014819)2.83563332
64GPI anchor metabolic process (GO:0006505)2.81071566
65positive regulation of protein homodimerization activity (GO:0090073)2.78262887
66ATP biosynthetic process (GO:0006754)2.78141908
67ATP hydrolysis coupled proton transport (GO:0015991)2.77023592
68energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.77023592
69DNA demethylation (GO:0080111)2.76774741
70ubiquinone metabolic process (GO:0006743)2.73203176
71purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.72213071
72pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.69674492
73pyrimidine-containing compound catabolic process (GO:0072529)2.67316003
74purine nucleoside triphosphate biosynthetic process (GO:0009145)2.67263556
75amino acid salvage (GO:0043102)2.66474105
76L-methionine salvage (GO:0071267)2.66474105
77L-methionine biosynthetic process (GO:0071265)2.66474105
78positive regulation of TOR signaling (GO:0032008)2.65178293
79DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.64098553
80pyrimidine ribonucleoside catabolic process (GO:0046133)2.62237838
81intracellular protein transmembrane import (GO:0044743)2.59130918
82negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.58825530
83DNA dealkylation (GO:0035510)2.58404360
84positive regulation of microtubule polymerization or depolymerization (GO:0031112)2.57662661
85GTP biosynthetic process (GO:0006183)2.53438418
86deoxyribonucleotide catabolic process (GO:0009264)2.51660974
87signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.49609996
88signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.49609996
89signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.49609996
90negative regulation of telomere maintenance (GO:0032205)2.49547969
91regulation of cilium movement (GO:0003352)2.48313439
92signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.48222692
93intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.48222692
94oxidative phosphorylation (GO:0006119)2.48055003
95peroxisome fission (GO:0016559)2.47874335
96mitochondrial transport (GO:0006839)2.47830331
97regulation of action potential (GO:0098900)2.47217207
98C-terminal protein lipidation (GO:0006501)2.47027773
99DNA double-strand break processing (GO:0000729)2.44474159
100regulation of mitochondrial translation (GO:0070129)2.43418467

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human4.29944459
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.09108579
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.53904513
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.47735139
5VDR_22108803_ChIP-Seq_LS180_Human3.35834919
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.31116130
7TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.24681632
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.24575020
9ETS1_20019798_ChIP-Seq_JURKAT_Human2.99857128
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.91901962
11ZNF274_21170338_ChIP-Seq_K562_Hela2.83137093
12EZH2_22144423_ChIP-Seq_EOC_Human2.79748878
13IGF1R_20145208_ChIP-Seq_DFB_Human2.73549635
14VDR_23849224_ChIP-Seq_CD4+_Human2.52441331
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.42612263
16ELF1_17652178_ChIP-ChIP_JURKAT_Human2.41401795
17SRF_21415370_ChIP-Seq_HL-1_Mouse2.28086532
18FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.18114159
19FOXP3_21729870_ChIP-Seq_TREG_Human1.96498800
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.90738393
21SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.89679684
22PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.87719453
23GABP_19822575_ChIP-Seq_HepG2_Human1.84053891
24THAP11_20581084_ChIP-Seq_MESCs_Mouse1.83898105
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81932731
26* ELK1_19687146_ChIP-ChIP_HELA_Human1.81155945
27IRF1_19129219_ChIP-ChIP_H3396_Human1.78728370
28HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.74679070
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.61738788
30FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.61362429
31TAF15_26573619_Chip-Seq_HEK293_Human1.59849914
32PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58562003
33ZFP57_27257070_Chip-Seq_ESCs_Mouse1.58178422
34HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.55941441
35TP53_22573176_ChIP-Seq_HFKS_Human1.54014591
36NOTCH1_21737748_ChIP-Seq_TLL_Human1.49166678
37DCP1A_22483619_ChIP-Seq_HELA_Human1.47032777
38CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.41972895
39FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.38771386
40GBX2_23144817_ChIP-Seq_PC3_Human1.37226962
41MYC_18940864_ChIP-ChIP_HL60_Human1.28219570
42EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.27320065
43MYC_18358816_ChIP-ChIP_MESCs_Mouse1.26655796
44YY1_21170310_ChIP-Seq_MESCs_Mouse1.25176101
45GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.24623251
46GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.24090618
47POU3F2_20337985_ChIP-ChIP_501MEL_Human1.23302948
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.22748378
49LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.22468971
50EWS_26573619_Chip-Seq_HEK293_Human1.22356884
51CTBP2_25329375_ChIP-Seq_LNCAP_Human1.22086433
52ETV2_25802403_ChIP-Seq_MESCs_Mouse1.22021613
53PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.21672256
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.18596905
55GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18529737
56TTF2_22483619_ChIP-Seq_HELA_Human1.17922622
57FLI1_27457419_Chip-Seq_LIVER_Mouse1.15810798
58NCOR_22424771_ChIP-Seq_293T_Human1.15103357
59MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14142912
60IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.13447129
61CBP_20019798_ChIP-Seq_JUKART_Human1.13447129
62REST_18959480_ChIP-ChIP_MESCs_Mouse1.11487088
63E2F1_18555785_ChIP-Seq_MESCs_Mouse1.09272158
64HOXB4_20404135_ChIP-ChIP_EML_Mouse1.07451558
65CIITA_25753668_ChIP-Seq_RAJI_Human1.07282750
66CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.03331923
67EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.02650833
68P300_19829295_ChIP-Seq_ESCs_Human1.00479831
69FUS_26573619_Chip-Seq_HEK293_Human0.99023892
70BMI1_23680149_ChIP-Seq_NPCS_Mouse0.98653521
71ELK1_22589737_ChIP-Seq_MCF10A_Human0.96694894
72REST_21632747_ChIP-Seq_MESCs_Mouse0.94993932
73KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93805653
74CBX2_27304074_Chip-Seq_ESCs_Mouse0.93419854
75AR_20517297_ChIP-Seq_VCAP_Human0.93313381
76FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.93147056
77HTT_18923047_ChIP-ChIP_STHdh_Human0.92952093
78MYC_18555785_ChIP-Seq_MESCs_Mouse0.92094478
79CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.92077342
80FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92038174
81* MYC_19829295_ChIP-Seq_ESCs_Human0.91642390
82TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.91256001
83FOXA1_25329375_ChIP-Seq_VCAP_Human0.91060755
84FOXA1_27270436_Chip-Seq_PROSTATE_Human0.91060755
85PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.90387007
86XRN2_22483619_ChIP-Seq_HELA_Human0.88963694
87IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.86924712
88SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86869930
89MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.86469684
90ERG_20517297_ChIP-Seq_VCAP_Human0.85721224
91SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.85468724
92YY1_22570637_ChIP-Seq_MALME-3M_Human0.85301555
93SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.85189226
94GATA3_21878914_ChIP-Seq_MCF-7_Human0.84853875
95PCGF2_27294783_Chip-Seq_ESCs_Mouse0.84703147
96CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.84554689
97TAL1_26923725_Chip-Seq_HPCs_Mouse0.84061426
98IRF8_21731497_ChIP-ChIP_J774_Mouse0.83450608
99TAF2_19829295_ChIP-Seq_ESCs_Human0.83129508
100TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.82932225

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002102_abnormal_ear_morphology3.98303536
2MP0003787_abnormal_imprinting3.55936727
3MP0001529_abnormal_vocalization3.05516510
4MP0003880_abnormal_central_pattern3.03331105
5MP0002837_dystrophic_cardiac_calcinosis2.84700254
6MP0008877_abnormal_DNA_methylation2.77320506
7MP0004147_increased_porphyrin_level2.34424269
8MP0008789_abnormal_olfactory_epithelium2.31699716
9MP0005645_abnormal_hypothalamus_physiol2.29389524
10MP0003121_genomic_imprinting2.28018733
11MP0006276_abnormal_autonomic_nervous2.21914992
12MP0004142_abnormal_muscle_tone2.21622378
13MP0005499_abnormal_olfactory_system2.02704677
14MP0005394_taste/olfaction_phenotype2.02704677
15MP0006036_abnormal_mitochondrial_physio2.00361513
16MP0006035_abnormal_mitochondrial_morpho1.97420080
17MP0004145_abnormal_muscle_electrophysio1.91938101
18MP0001905_abnormal_dopamine_level1.90310936
19MP0001986_abnormal_taste_sensitivity1.88903077
20MP0009046_muscle_twitch1.88437657
21MP0005084_abnormal_gallbladder_morpholo1.83807581
22MP0003122_maternal_imprinting1.83442376
23MP0006292_abnormal_olfactory_placode1.78406126
24MP0002653_abnormal_ependyma_morphology1.76483244
25MP0005671_abnormal_response_to1.76106528
26MP0003646_muscle_fatigue1.76079310
27MP0001968_abnormal_touch/_nociception1.74260705
28MP0003950_abnormal_plasma_membrane1.67063480
29MP0004133_heterotaxia1.63850479
30MP0005423_abnormal_somatic_nervous1.58930995
31MP0006072_abnormal_retinal_apoptosis1.54898033
32MP0003011_delayed_dark_adaptation1.50019336
33MP0003786_premature_aging1.46078351
34MP0003186_abnormal_redox_activity1.45879605
35MP0005551_abnormal_eye_electrophysiolog1.42025198
36MP0008058_abnormal_DNA_repair1.41232189
37MP0000749_muscle_degeneration1.35587545
38MP0002272_abnormal_nervous_system1.31466086
39MP0008872_abnormal_physiological_respon1.30890880
40MP0002638_abnormal_pupillary_reflex1.30599135
41MP0001188_hyperpigmentation1.27075426
42MP0004270_analgesia1.26105809
43MP0005253_abnormal_eye_physiology1.24273696
44MP0002736_abnormal_nociception_after1.23777789
45MP0000778_abnormal_nervous_system1.22592265
46MP0003718_maternal_effect1.20994975
47MP0002733_abnormal_thermal_nociception1.20405572
48MP0001970_abnormal_pain_threshold1.16912607
49MP0005386_behavior/neurological_phenoty1.13913065
50MP0004924_abnormal_behavior1.13913065
51MP0001542_abnormal_bone_strength1.13650048
52MP0001919_abnormal_reproductive_system1.13207781
53MP0000372_irregular_coat_pigmentation1.11624063
54MP0002734_abnormal_mechanical_nocicepti1.10561583
55MP0009745_abnormal_behavioral_response1.10085365
56MP0002067_abnormal_sensory_capabilities1.08488192
57MP0001984_abnormal_olfaction1.08278722
58MP0002234_abnormal_pharynx_morphology1.06468219
59MP0005389_reproductive_system_phenotype1.06171558
60MP0002928_abnormal_bile_duct1.04620490
61MP0002751_abnormal_autonomic_nervous1.03761709
62MP0009764_decreased_sensitivity_to1.03668843
63MP0008875_abnormal_xenobiotic_pharmacok0.99756283
64MP0003137_abnormal_impulse_conducting0.98846210
65MP0001764_abnormal_homeostasis0.97184249
66MP0002163_abnormal_gland_morphology0.94728527
67MP0001486_abnormal_startle_reflex0.94429307
68MP0002160_abnormal_reproductive_system0.93712359
69MP0004215_abnormal_myocardial_fiber0.92439065
70MP0003635_abnormal_synaptic_transmissio0.89352936
71MP0005379_endocrine/exocrine_gland_phen0.89279202
72MP0002822_catalepsy0.88187845
73MP0002557_abnormal_social/conspecific_i0.87797200
74MP0005410_abnormal_fertilization0.87589795
75MP0000631_abnormal_neuroendocrine_gland0.86540137
76MP0000358_abnormal_cell_content/0.84900744
77MP0002184_abnormal_innervation0.83678252
78MP0009785_altered_susceptibility_to0.82758928
79MP0005646_abnormal_pituitary_gland0.82518109
80MP0010386_abnormal_urinary_bladder0.81136770
81MP0004742_abnormal_vestibular_system0.80058659
82MP0002752_abnormal_somatic_nervous0.79903169
83MP0003806_abnormal_nucleotide_metabolis0.76712646
84MP0008775_abnormal_heart_ventricle0.76449585
85MP0002572_abnormal_emotion/affect_behav0.74704523
86MP0003252_abnormal_bile_duct0.71949633
87MP0002063_abnormal_learning/memory/cond0.71448412
88MP0008995_early_reproductive_senescence0.71080538
89MP0004811_abnormal_neuron_physiology0.71076539
90MP0002735_abnormal_chemical_nociception0.68714322
91MP0001485_abnormal_pinna_reflex0.68200172
92MP0002229_neurodegeneration0.68040282
93MP0005266_abnormal_metabolism0.66843918
94MP0001293_anophthalmia0.66290219
95MP0002882_abnormal_neuron_morphology0.64549733
96MP0002064_seizures0.63834172
97MP0002277_abnormal_respiratory_mucosa0.62574355
98MP0003693_abnormal_embryo_hatching0.61756307
99MP0001929_abnormal_gametogenesis0.61555240
100MP0002148_abnormal_hypersensitivity_rea0.61380699

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.91711380
2Abnormal mitochondria in muscle tissue (HP:0008316)4.63101804
3Mitochondrial inheritance (HP:0001427)4.38026294
4Acute encephalopathy (HP:0006846)4.34391396
5Hepatocellular necrosis (HP:0001404)4.16324032
6Increased CSF lactate (HP:0002490)3.94239526
7Progressive macrocephaly (HP:0004481)3.94088812
8Hepatic necrosis (HP:0002605)3.71539092
9Absent rod-and cone-mediated responses on ERG (HP:0007688)3.67552542
103-Methylglutaconic aciduria (HP:0003535)3.47865175
11Cerebral edema (HP:0002181)3.25907312
12Decreased activity of mitochondrial respiratory chain (HP:0008972)3.20492832
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.20492832
14Increased hepatocellular lipid droplets (HP:0006565)3.12196141
15Renal cortical cysts (HP:0000803)3.07935030
16Renal Fanconi syndrome (HP:0001994)3.05928190
17Lipid accumulation in hepatocytes (HP:0006561)2.93954774
18Increased serum lactate (HP:0002151)2.92764478
19Poor suck (HP:0002033)2.87150046
20Pancreatic cysts (HP:0001737)2.84411330
21Lactic acidosis (HP:0003128)2.82187730
22Increased serum pyruvate (HP:0003542)2.76895709
23Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.70254616
24Abnormality of alanine metabolism (HP:0010916)2.70254616
25Hyperalaninemia (HP:0003348)2.70254616
26Exercise-induced muscle cramps (HP:0003710)2.68391528
27Optic disc pallor (HP:0000543)2.65614262
28Molar tooth sign on MRI (HP:0002419)2.61822244
29Abnormality of midbrain morphology (HP:0002418)2.61822244
30Abnormal rod and cone electroretinograms (HP:0008323)2.61329869
31Pancreatic fibrosis (HP:0100732)2.60027278
32Agitation (HP:0000713)2.59129350
33Increased intramyocellular lipid droplets (HP:0012240)2.56076778
34Medial flaring of the eyebrow (HP:0010747)2.46453650
35Calf muscle hypertrophy (HP:0008981)2.44337206
36True hermaphroditism (HP:0010459)2.43377111
37Chronic hepatic failure (HP:0100626)2.39291378
38Polyphagia (HP:0002591)2.38976664
39Methylmalonic aciduria (HP:0012120)2.35073844
40Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.33728196
41Generalized aminoaciduria (HP:0002909)2.32252338
42Myotonia (HP:0002486)2.30910696
43Exercise intolerance (HP:0003546)2.29043360
44Respiratory failure (HP:0002878)2.27153196
45Failure to thrive in infancy (HP:0001531)2.25516959
46Progressive microcephaly (HP:0000253)2.23826727
47Muscle hypertrophy of the lower extremities (HP:0008968)2.21416921
48Abolished electroretinogram (ERG) (HP:0000550)2.20983841
49Abnormality of glycolysis (HP:0004366)2.20116135
50Myokymia (HP:0002411)2.19332886
51Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.18235673
52Adrenal hypoplasia (HP:0000835)2.16215908
53Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.15772618
54Degeneration of the lateral corticospinal tracts (HP:0002314)2.15772618
55CNS demyelination (HP:0007305)2.15742922
56Increased muscle lipid content (HP:0009058)2.12460508
57Brushfield spots (HP:0001088)2.06136035
58Hyperglycinemia (HP:0002154)2.03623290
59Lethargy (HP:0001254)2.01800769
60Methylmalonic acidemia (HP:0002912)2.01593728
61Constricted visual fields (HP:0001133)2.01195626
62Leukodystrophy (HP:0002415)2.01133401
63Microvesicular hepatic steatosis (HP:0001414)2.00259352
64Bony spicule pigmentary retinopathy (HP:0007737)2.00135789
65Retinal dysplasia (HP:0007973)2.00056954
66Type 2 muscle fiber atrophy (HP:0003554)1.99105350
67Abnormality of renal resorption (HP:0011038)1.99007737
68Abnormality of the labia minora (HP:0012880)1.95640641
69Exertional dyspnea (HP:0002875)1.95247301
70Parakeratosis (HP:0001036)1.94741976
71IgG deficiency (HP:0004315)1.93760295
72Abnormality of the renal cortex (HP:0011035)1.91644881
73Abnormal biliary tract physiology (HP:0012439)1.91621319
74Bile duct proliferation (HP:0001408)1.91621319
75Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.91379855
76Gait imbalance (HP:0002141)1.91253432
77Emotional lability (HP:0000712)1.90947536
78Attenuation of retinal blood vessels (HP:0007843)1.89156893
79Stomatitis (HP:0010280)1.88053418
80Congenital primary aphakia (HP:0007707)1.87557035
81Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.83197476
82Abnormal protein N-linked glycosylation (HP:0012347)1.83197476
83Abnormal protein glycosylation (HP:0012346)1.83197476
84Abnormal glycosylation (HP:0012345)1.83197476
85Inability to walk (HP:0002540)1.82820967
86Lissencephaly (HP:0001339)1.81407479
87X-linked dominant inheritance (HP:0001423)1.80400156
88Male pseudohermaphroditism (HP:0000037)1.80307016
89Sclerocornea (HP:0000647)1.80204041
90Nephronophthisis (HP:0000090)1.79834819
91Abnormality of the heme biosynthetic pathway (HP:0010472)1.78204408
92Abnormality of dicarboxylic acid metabolism (HP:0010995)1.77128076
93Dicarboxylic aciduria (HP:0003215)1.77128076
94Nephrogenic diabetes insipidus (HP:0009806)1.76489942
95Glycosuria (HP:0003076)1.72961083
96Abnormality of urine glucose concentration (HP:0011016)1.72961083
97Muscle fiber atrophy (HP:0100295)1.72869963
98Impaired vibration sensation in the lower limbs (HP:0002166)1.70245904
99Short tibia (HP:0005736)1.69152997
100Absent speech (HP:0001344)1.67455564

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK192.71113717
2MAP4K22.71034712
3STK162.66100149
4MAP2K72.60340442
5MAP3K42.59199648
6PIM22.38676892
7WNK32.25101383
8BMPR1B2.14785351
9ZAK2.13248071
10TRIM282.08051083
11CDK82.01778449
12BCR1.94620454
13TESK21.84920694
14DYRK21.83774352
15BCKDK1.79781928
16PINK11.78266002
17TXK1.74213191
18ADRBK21.71798575
19TIE11.67321283
20MAPKAPK51.64842815
21MUSK1.62739804
22CSNK1G31.56397114
23CSNK1G21.52308818
24MAPK131.51620079
25VRK11.42886890
26MARK11.41744968
27MAP3K111.35548677
28CCNB11.34402708
29KDR1.29934548
30BUB11.27529105
31CSNK1A1L1.19966643
32DYRK31.19680698
33EIF2AK31.19353033
34MINK11.18610817
35CSNK1G11.17378956
36ERBB31.17211476
37EPHA41.17069454
38DAPK21.16711464
39SRPK11.16254036
40NUAK11.13779377
41TLK11.12172709
42LIMK11.10203959
43VRK21.09110351
44PLK41.08577419
45GRK11.08079299
46MAP3K51.02718774
47PLK20.95960009
48EIF2AK10.92070611
49MST40.87053642
50MAP3K120.83338560
51TESK10.81531775
52MARK30.80971336
53INSRR0.77714003
54PRKCG0.76883479
55DAPK30.76463370
56CASK0.74961431
57TEC0.74625952
58PKN10.71390099
59PAK30.69294436
60MATK0.69191473
61PIK3CG0.68808394
62NME10.68254488
63RPS6KA50.66023500
64CDK140.65422319
65DAPK10.65293427
66ARAF0.64464886
67TAOK30.63539709
68AURKA0.63254513
69NME20.61874524
70PIM10.58567876
71DYRK1B0.57510073
72CAMK2A0.57176150
73PDK20.56919525
74GRK70.56422015
75MAP2K40.56283251
76SIK30.55525687
77SYK0.55284686
78IKBKB0.55091445
79ABL20.54479435
80OXSR10.52361262
81OBSCN0.51991950
82PRKACA0.48352825
83CAMK2D0.45822004
84PRKCE0.45798186
85PRKCQ0.45340423
86WNK40.44776647
87MAP3K60.43795990
88CDK11A0.43705273
89NTRK20.43658896
90CAMK2G0.42982177
91PAK60.42896904
92PAK10.41244499
93PLK10.40748129
94CSNK1A10.40304034
95CDK50.38280010
96CDK180.38177197
97CSNK2A10.38147983
98SCYL20.37630652
99LYN0.37282627
100PHKG20.36163341

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.93231434
2Parkinsons disease_Homo sapiens_hsa050124.34998670
3Proteasome_Homo sapiens_hsa030503.38270145
4Protein export_Homo sapiens_hsa030602.75102115
5Alzheimers disease_Homo sapiens_hsa050102.68321725
6Huntingtons disease_Homo sapiens_hsa050162.67468174
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.62996126
8Cardiac muscle contraction_Homo sapiens_hsa042602.45010520
9Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.38342254
10RNA polymerase_Homo sapiens_hsa030202.28511539
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.23848787
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.20433358
13Collecting duct acid secretion_Homo sapiens_hsa049662.08136413
14Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.85736383
15Ribosome_Homo sapiens_hsa030101.79444824
16Phototransduction_Homo sapiens_hsa047441.71387482
17Steroid biosynthesis_Homo sapiens_hsa001001.65148154
18Butanoate metabolism_Homo sapiens_hsa006501.50058358
19Basal transcription factors_Homo sapiens_hsa030221.44176986
20Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.38460860
21Peroxisome_Homo sapiens_hsa041461.36968550
22Propanoate metabolism_Homo sapiens_hsa006401.31462042
23Primary immunodeficiency_Homo sapiens_hsa053401.29491137
24Rheumatoid arthritis_Homo sapiens_hsa053231.28533459
25Fatty acid elongation_Homo sapiens_hsa000621.23775889
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.23583849
27Nicotine addiction_Homo sapiens_hsa050331.23322958
28RNA degradation_Homo sapiens_hsa030181.22048843
29Synaptic vesicle cycle_Homo sapiens_hsa047211.19451443
30Base excision repair_Homo sapiens_hsa034101.18448587
31Sulfur metabolism_Homo sapiens_hsa009201.15095644
32Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.05522631
33Intestinal immune network for IgA production_Homo sapiens_hsa046721.05369807
34Nucleotide excision repair_Homo sapiens_hsa034201.03999685
35Regulation of autophagy_Homo sapiens_hsa041401.03831178
36Pyrimidine metabolism_Homo sapiens_hsa002401.02152255
37Asthma_Homo sapiens_hsa053100.98853649
38Primary bile acid biosynthesis_Homo sapiens_hsa001200.98677867
39Selenocompound metabolism_Homo sapiens_hsa004500.97469443
40Sulfur relay system_Homo sapiens_hsa041220.95905012
41Folate biosynthesis_Homo sapiens_hsa007900.94043087
42Homologous recombination_Homo sapiens_hsa034400.89585112
43Autoimmune thyroid disease_Homo sapiens_hsa053200.89512036
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89149652
45Spliceosome_Homo sapiens_hsa030400.88360208
46Mismatch repair_Homo sapiens_hsa034300.87264046
47Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.86646531
48Allograft rejection_Homo sapiens_hsa053300.85490413
49Type I diabetes mellitus_Homo sapiens_hsa049400.84530668
50Graft-versus-host disease_Homo sapiens_hsa053320.83845301
51Fanconi anemia pathway_Homo sapiens_hsa034600.83491027
52Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.83213819
53GABAergic synapse_Homo sapiens_hsa047270.82734775
54Tryptophan metabolism_Homo sapiens_hsa003800.80834813
55Metabolic pathways_Homo sapiens_hsa011000.79498046
56Purine metabolism_Homo sapiens_hsa002300.76480673
57Pyruvate metabolism_Homo sapiens_hsa006200.76371892
58Caffeine metabolism_Homo sapiens_hsa002320.74571525
59Vibrio cholerae infection_Homo sapiens_hsa051100.72030449
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71708586
61Cysteine and methionine metabolism_Homo sapiens_hsa002700.70851553
62SNARE interactions in vesicular transport_Homo sapiens_hsa041300.70244166
63Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.69151718
64Systemic lupus erythematosus_Homo sapiens_hsa053220.68306832
65Alcoholism_Homo sapiens_hsa050340.68116949
66beta-Alanine metabolism_Homo sapiens_hsa004100.66045569
67Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.65179946
68Morphine addiction_Homo sapiens_hsa050320.64624033
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.62109895
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61673340
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.60974005
72Linoleic acid metabolism_Homo sapiens_hsa005910.60181798
73Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.57973711
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55292404
75RNA transport_Homo sapiens_hsa030130.53217872
76Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.51097919
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50268606
78Viral myocarditis_Homo sapiens_hsa054160.48192536
79Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.47514643
80Phagosome_Homo sapiens_hsa041450.45371878
81Taste transduction_Homo sapiens_hsa047420.44292591
82Olfactory transduction_Homo sapiens_hsa047400.43172317
83Serotonergic synapse_Homo sapiens_hsa047260.42296985
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41469010
85Shigellosis_Homo sapiens_hsa051310.39807786
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.39093524
87Fatty acid metabolism_Homo sapiens_hsa012120.38605569
88Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.37465380
89Dopaminergic synapse_Homo sapiens_hsa047280.36865253
90Glutathione metabolism_Homo sapiens_hsa004800.36221865
91Salmonella infection_Homo sapiens_hsa051320.34907685
92Nitrogen metabolism_Homo sapiens_hsa009100.34432793
93Ether lipid metabolism_Homo sapiens_hsa005650.31993054
94Pentose and glucuronate interconversions_Homo sapiens_hsa000400.31328289
95p53 signaling pathway_Homo sapiens_hsa041150.31255899
96Fatty acid degradation_Homo sapiens_hsa000710.30383202
97Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.30327662
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.29314654
99Hematopoietic cell lineage_Homo sapiens_hsa046400.28484453
100One carbon pool by folate_Homo sapiens_hsa006700.28276469

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