SKP1

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: This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.07766952
2proteasome assembly (GO:0043248)4.74641486
3cullin deneddylation (GO:0010388)4.54909489
4mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.51138508
5energy coupled proton transport, down electrochemical gradient (GO:0015985)4.23690888
6ATP synthesis coupled proton transport (GO:0015986)4.23690888
7protein deneddylation (GO:0000338)4.16495195
8protein neddylation (GO:0045116)3.93484827
9respiratory electron transport chain (GO:0022904)3.91752316
10protein complex biogenesis (GO:0070271)3.88043546
11electron transport chain (GO:0022900)3.86821007
12establishment of protein localization to mitochondrial membrane (GO:0090151)3.85384427
13respiratory chain complex IV assembly (GO:0008535)3.75254825
14DNA double-strand break processing (GO:0000729)3.71378988
15mitochondrial respiratory chain complex assembly (GO:0033108)3.62726392
16chaperone-mediated protein transport (GO:0072321)3.50996789
17mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.47756190
18mitochondrial respiratory chain complex I assembly (GO:0032981)3.47756190
19NADH dehydrogenase complex assembly (GO:0010257)3.47756190
20platelet dense granule organization (GO:0060155)3.28335920
21negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.27079562
22water-soluble vitamin biosynthetic process (GO:0042364)3.26245053
23cytochrome complex assembly (GO:0017004)3.24720438
24regulation of cellular amino acid metabolic process (GO:0006521)3.12693577
25nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.10251801
26exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.06069925
27* positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.00733940
28* regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.99358211
29protein-cofactor linkage (GO:0018065)2.98878756
30regulation of cilium movement (GO:0003352)2.96471584
31protein localization to cilium (GO:0061512)2.94153501
32negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.90879133
33negative regulation of ligase activity (GO:0051352)2.90879133
34DNA damage response, detection of DNA damage (GO:0042769)2.86891734
35hydrogen ion transmembrane transport (GO:1902600)2.85795968
36DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.85740328
37termination of RNA polymerase III transcription (GO:0006386)2.84852977
38transcription elongation from RNA polymerase III promoter (GO:0006385)2.84852977
39aldehyde catabolic process (GO:0046185)2.83496631
40organelle disassembly (GO:1903008)2.81310408
41intraciliary transport (GO:0042073)2.80167560
42nonmotile primary cilium assembly (GO:0035058)2.79450877
43signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.77852293
44signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.77852293
45signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.77852293
46* anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.75551921
47signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.75305094
48intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.75305094
49proton transport (GO:0015992)2.74326219
50L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.71679493
51hydrogen transport (GO:0006818)2.69650222
52signal transduction involved in cell cycle checkpoint (GO:0072395)2.64438784
53* positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.64194475
54oxidative phosphorylation (GO:0006119)2.63698658
55ATP biosynthetic process (GO:0006754)2.63383061
56anterograde synaptic vesicle transport (GO:0048490)2.62962322
57peptidyl-histidine modification (GO:0018202)2.61399357
58establishment of integrated proviral latency (GO:0075713)2.61348784
59signal transduction involved in DNA integrity checkpoint (GO:0072401)2.60361691
60signal transduction involved in DNA damage checkpoint (GO:0072422)2.60361691
61chromatin remodeling at centromere (GO:0031055)2.58483830
62protein localization to mitochondrion (GO:0070585)2.58323048
63CENP-A containing nucleosome assembly (GO:0034080)2.57587109
64presynaptic membrane assembly (GO:0097105)2.57370083
65positive regulation of mitochondrial fission (GO:0090141)2.57340641
66protein K11-linked ubiquitination (GO:0070979)2.56447163
67mannosylation (GO:0097502)2.56327751
68protein targeting to mitochondrion (GO:0006626)2.55802883
69epithelial cilium movement (GO:0003351)2.54830263
70signal peptide processing (GO:0006465)2.53347579
71branched-chain amino acid catabolic process (GO:0009083)2.52402882
72histone H2A acetylation (GO:0043968)2.52332571
73RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.51975763
74tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.51975763
75retinal cone cell development (GO:0046549)2.51854774
76* positive regulation of ligase activity (GO:0051351)2.50354917
77regulation of mitochondrial translation (GO:0070129)2.50143760
78regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.50079380
79regulation of mitotic spindle checkpoint (GO:1903504)2.50079380
80ribonucleoprotein complex disassembly (GO:0032988)2.46951435
81lactate metabolic process (GO:0006089)2.46417937
82purine nucleoside triphosphate biosynthetic process (GO:0009145)2.46326445
83establishment of protein localization to mitochondrion (GO:0072655)2.45523268
84dopamine transport (GO:0015872)2.44152703
85purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.43652225
86cilium morphogenesis (GO:0060271)2.43366494
87rRNA modification (GO:0000154)2.43252993
88intracellular protein transmembrane import (GO:0044743)2.42729730
89negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.41935634
90peptidyl-cysteine modification (GO:0018198)2.41567143
91ATP hydrolysis coupled proton transport (GO:0015991)2.41557523
92energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.41557523
93histone mRNA metabolic process (GO:0008334)2.38589829
94neuron cell-cell adhesion (GO:0007158)2.38172369
957-methylguanosine mRNA capping (GO:0006370)2.37298100
96DNA catabolic process, exonucleolytic (GO:0000738)2.37223778
97axoneme assembly (GO:0035082)2.37059484
98negative regulation of heart rate (GO:0010459)2.34129178
99pyrimidine nucleobase catabolic process (GO:0006208)2.34077971
100histone exchange (GO:0043486)2.32902144

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.81281589
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.49020693
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.44309682
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.11007744
5HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.68352774
6POU3F2_20337985_ChIP-ChIP_501MEL_Human2.52840781
7ZNF274_21170338_ChIP-Seq_K562_Hela2.47898535
8VDR_22108803_ChIP-Seq_LS180_Human2.43514158
9ELK1_19687146_ChIP-ChIP_HELA_Human2.42413559
10GBX2_23144817_ChIP-Seq_PC3_Human2.39898670
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.35797793
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.27688213
13TAF15_26573619_Chip-Seq_HEK293_Human2.24419313
14IGF1R_20145208_ChIP-Seq_DFB_Human2.21452745
15* FUS_26573619_Chip-Seq_HEK293_Human2.16081117
16TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.11970567
17FLI1_27457419_Chip-Seq_LIVER_Mouse2.07922670
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.06840813
19* EWS_26573619_Chip-Seq_HEK293_Human2.06575906
20CREB1_15753290_ChIP-ChIP_HEK293T_Human2.05503185
21P300_19829295_ChIP-Seq_ESCs_Human1.96335499
22MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.91089258
23JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.88995598
24CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86625777
25ETS1_20019798_ChIP-Seq_JURKAT_Human1.85280158
26VDR_23849224_ChIP-Seq_CD4+_Human1.84481267
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.83700569
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81354960
29SALL1_21062744_ChIP-ChIP_HESCs_Human1.79033778
30PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.73803173
31HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.73252762
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.65497529
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.65230601
34PADI4_21655091_ChIP-ChIP_MCF-7_Human1.60895522
35SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.56246879
36CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.56056519
37SRF_21415370_ChIP-Seq_HL-1_Mouse1.47177052
38MYC_18940864_ChIP-ChIP_HL60_Human1.45052512
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44161624
40MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.39073258
41PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.38984856
42AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.38258954
43FOXP3_21729870_ChIP-Seq_TREG_Human1.38238871
44EZH2_22144423_ChIP-Seq_EOC_Human1.37445171
45FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.34034304
46OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32988799
47E2F4_17652178_ChIP-ChIP_JURKAT_Human1.32202768
48ER_23166858_ChIP-Seq_MCF-7_Human1.31570256
49SMAD4_21799915_ChIP-Seq_A2780_Human1.31110683
50* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.28683386
51MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.27735895
52SUZ12_27294783_Chip-Seq_NPCs_Mouse1.27353279
53RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.26747887
54IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25284689
55CBP_20019798_ChIP-Seq_JUKART_Human1.25284689
56POU5F1_16153702_ChIP-ChIP_HESCs_Human1.24893244
57FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.23614424
58TP53_22573176_ChIP-Seq_HFKS_Human1.23444947
59EZH2_27294783_Chip-Seq_NPCs_Mouse1.22874290
60PIAS1_25552417_ChIP-Seq_VCAP_Human1.21346217
61NANOG_19829295_ChIP-Seq_ESCs_Human1.17381857
62SOX2_19829295_ChIP-Seq_ESCs_Human1.17381857
63CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.16511171
64AR_25329375_ChIP-Seq_VCAP_Human1.16497236
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16478223
66NFE2_27457419_Chip-Seq_LIVER_Mouse1.15570382
67RBPJ_22232070_ChIP-Seq_NCS_Mouse1.13933851
68NANOG_18555785_Chip-Seq_ESCs_Mouse1.12219778
69SMAD3_21741376_ChIP-Seq_EPCs_Human1.12144630
70DCP1A_22483619_ChIP-Seq_HELA_Human1.12071183
71SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.11977172
72RNF2_27304074_Chip-Seq_NSC_Mouse1.11787626
73TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11397912
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.10912588
75KLF5_20875108_ChIP-Seq_MESCs_Mouse1.10613036
76BCAT_22108803_ChIP-Seq_LS180_Human1.10011681
77PCGF2_27294783_Chip-Seq_NPCs_Mouse1.09921534
78EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08199332
79HTT_18923047_ChIP-ChIP_STHdh_Human1.08166918
80EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.04163980
81P53_22387025_ChIP-Seq_ESCs_Mouse1.03845287
82YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.02388076
83THAP11_20581084_ChIP-Seq_MESCs_Mouse1.02078627
84FOXA1_25329375_ChIP-Seq_VCAP_Human1.01788595
85FOXA1_27270436_Chip-Seq_PROSTATE_Human1.01788595
86TCF4_22108803_ChIP-Seq_LS180_Human1.01380292
87ELF1_17652178_ChIP-ChIP_JURKAT_Human1.01286498
88PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.00220881
89CRX_20693478_ChIP-Seq_RETINA_Mouse0.99360302
90IRF1_19129219_ChIP-ChIP_H3396_Human0.98002345
91BMI1_23680149_ChIP-Seq_NPCS_Mouse0.96924975
92SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96448358
93STAT3_18555785_Chip-Seq_ESCs_Mouse0.96077894
94STAT3_23295773_ChIP-Seq_U87_Human0.95834723
95JUN_21703547_ChIP-Seq_K562_Human0.94727924
96TAL1_26923725_Chip-Seq_HPCs_Mouse0.94426237
97E2F1_18555785_Chip-Seq_ESCs_Mouse0.93553554
98SUZ12_18555785_Chip-Seq_ESCs_Mouse0.93443685
99ELK1_22589737_ChIP-Seq_MCF10A_Human0.93076212
100GABP_19822575_ChIP-Seq_HepG2_Human0.92791198

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern3.62414721
2MP0001529_abnormal_vocalization2.87642036
3MP0008877_abnormal_DNA_methylation2.70143658
4MP0002736_abnormal_nociception_after2.53696711
5MP0001984_abnormal_olfaction2.51209102
6MP0002102_abnormal_ear_morphology2.37316200
7MP0006072_abnormal_retinal_apoptosis2.29049406
8MP0001968_abnormal_touch/_nociception2.19490508
9MP0009046_muscle_twitch2.11223419
10MP0008058_abnormal_DNA_repair2.10407402
11MP0002638_abnormal_pupillary_reflex2.03222176
12MP0003787_abnormal_imprinting1.98796395
13MP0004270_analgesia1.90297402
14MP0002272_abnormal_nervous_system1.88131192
15MP0009745_abnormal_behavioral_response1.86939594
16MP0003718_maternal_effect1.83980932
17MP0005551_abnormal_eye_electrophysiolog1.81708966
18MP0005253_abnormal_eye_physiology1.79789493
19MP0003122_maternal_imprinting1.79728398
20MP0003011_delayed_dark_adaptation1.77401008
21MP0000372_irregular_coat_pigmentation1.76355713
22MP0006276_abnormal_autonomic_nervous1.76016405
23MP0001486_abnormal_startle_reflex1.73249223
24MP0004147_increased_porphyrin_level1.71843817
25MP0008789_abnormal_olfactory_epithelium1.71399523
26MP0004859_abnormal_synaptic_plasticity1.70256802
27MP0002734_abnormal_mechanical_nocicepti1.68634539
28MP0003121_genomic_imprinting1.67144448
29MP0002938_white_spotting1.63764173
30MP0006036_abnormal_mitochondrial_physio1.63271123
31MP0001905_abnormal_dopamine_level1.52186053
32MP0005499_abnormal_olfactory_system1.51021645
33MP0005394_taste/olfaction_phenotype1.51021645
34MP0003186_abnormal_redox_activity1.50897905
35MP0003635_abnormal_synaptic_transmissio1.49223582
36MP0004215_abnormal_myocardial_fiber1.49043630
37MP0002064_seizures1.46231822
38MP0005084_abnormal_gallbladder_morpholo1.45720281
39MP0004142_abnormal_muscle_tone1.45414922
40MP0005423_abnormal_somatic_nervous1.45133423
41MP0002572_abnormal_emotion/affect_behav1.44646017
42MP0002837_dystrophic_cardiac_calcinosis1.43929120
43MP0002735_abnormal_chemical_nociception1.42721567
44MP0010386_abnormal_urinary_bladder1.35483113
45MP0003136_yellow_coat_color1.30934451
46MP0005645_abnormal_hypothalamus_physiol1.30819993
47MP0006035_abnormal_mitochondrial_morpho1.29397706
48MP0008872_abnormal_physiological_respon1.28945156
49MP0005646_abnormal_pituitary_gland1.27281865
50MP0003195_calcinosis1.25274661
51MP0006292_abnormal_olfactory_placode1.24167765
52MP0001188_hyperpigmentation1.23455765
53MP0002557_abnormal_social/conspecific_i1.23002661
54MP0001970_abnormal_pain_threshold1.19405880
55MP0002067_abnormal_sensory_capabilities1.18964359
56MP0001485_abnormal_pinna_reflex1.18607440
57MP0002063_abnormal_learning/memory/cond1.18474526
58MP0002090_abnormal_vision1.16300173
59MP0004133_heterotaxia1.14984774
60MP0002751_abnormal_autonomic_nervous1.13669915
61MP0004924_abnormal_behavior1.13574766
62MP0005386_behavior/neurological_phenoty1.13574766
63MP0000631_abnormal_neuroendocrine_gland1.13323679
64MP0009697_abnormal_copulation1.09183577
65MP0009780_abnormal_chondrocyte_physiolo1.08074264
66MP0000778_abnormal_nervous_system1.05400793
67MP0002822_catalepsy1.03697302
68MP0003786_premature_aging1.03007310
69MP0001501_abnormal_sleep_pattern1.02842193
70MP0010094_abnormal_chromosome_stability1.02308038
71MP0000647_abnormal_sebaceous_gland1.01233461
72MP0002234_abnormal_pharynx_morphology1.00338999
73MP0003890_abnormal_embryonic-extraembry0.99164097
74MP0005187_abnormal_penis_morphology0.99101871
75MP0001986_abnormal_taste_sensitivity0.96727831
76MP0000427_abnormal_hair_cycle0.96553094
77MP0003137_abnormal_impulse_conducting0.96379153
78MP0002184_abnormal_innervation0.95706860
79MP0002733_abnormal_thermal_nociception0.93824699
80MP0008995_early_reproductive_senescence0.92446349
81MP0004885_abnormal_endolymph0.91961440
82MP0003806_abnormal_nucleotide_metabolis0.88100750
83MP0001764_abnormal_homeostasis0.85587470
84MP0005367_renal/urinary_system_phenotyp0.84689386
85MP0000516_abnormal_urinary_system0.84689386
86MP0008875_abnormal_xenobiotic_pharmacok0.84269391
87MP0002752_abnormal_somatic_nervous0.83712042
88MP0002909_abnormal_adrenal_gland0.82596065
89MP0001293_anophthalmia0.82574900
90MP0002233_abnormal_nose_morphology0.82537630
91MP0005379_endocrine/exocrine_gland_phen0.81182458
92MP0001929_abnormal_gametogenesis0.80247826
93MP0002653_abnormal_ependyma_morphology0.79365364
94MP0002882_abnormal_neuron_morphology0.79108242
95MP0004085_abnormal_heartbeat0.79062317
96MP0004957_abnormal_blastocyst_morpholog0.78974211
97MP0008932_abnormal_embryonic_tissue0.78390545
98MP0002229_neurodegeneration0.77706711
99MP0002163_abnormal_gland_morphology0.76975274
100MP0002160_abnormal_reproductive_system0.76600118

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.44824538
2Progressive macrocephaly (HP:0004481)4.03966647
3Abnormal mitochondria in muscle tissue (HP:0008316)3.94349121
4Acute encephalopathy (HP:0006846)3.89506768
5Mitochondrial inheritance (HP:0001427)3.79492213
6Increased CSF lactate (HP:0002490)3.56968012
7Hepatocellular necrosis (HP:0001404)3.34936708
8Medial flaring of the eyebrow (HP:0010747)3.24338519
9Hepatic necrosis (HP:0002605)3.21770863
10Increased hepatocellular lipid droplets (HP:0006565)3.20426896
11Gait imbalance (HP:0002141)3.04552958
12Pancreatic cysts (HP:0001737)3.02829070
13Methylmalonic acidemia (HP:0002912)2.98446813
14Lipid accumulation in hepatocytes (HP:0006561)2.96867565
15Congenital primary aphakia (HP:0007707)2.89307534
16True hermaphroditism (HP:0010459)2.88023659
17Pancreatic fibrosis (HP:0100732)2.87452575
18Abnormality of midbrain morphology (HP:0002418)2.84815181
19Molar tooth sign on MRI (HP:0002419)2.84815181
20Cerebral edema (HP:0002181)2.84542297
213-Methylglutaconic aciduria (HP:0003535)2.79611849
22Abnormality of the labia minora (HP:0012880)2.76903799
23Decreased activity of mitochondrial respiratory chain (HP:0008972)2.74663738
24Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.74663738
25Nephrogenic diabetes insipidus (HP:0009806)2.67809932
26Hypothermia (HP:0002045)2.56031192
27Renal Fanconi syndrome (HP:0001994)2.53775727
28Myokymia (HP:0002411)2.49796593
29Nephronophthisis (HP:0000090)2.42471320
30Methylmalonic aciduria (HP:0012120)2.40758299
31Genital tract atresia (HP:0001827)2.39554342
32Lactic acidosis (HP:0003128)2.37006460
33Limb dystonia (HP:0002451)2.36455094
34Vaginal atresia (HP:0000148)2.32477320
35Increased serum lactate (HP:0002151)2.31492194
36Optic disc pallor (HP:0000543)2.30360990
37Leukodystrophy (HP:0002415)2.27506342
38Focal motor seizures (HP:0011153)2.27095050
39Respiratory failure (HP:0002878)2.25145352
40Atonic seizures (HP:0010819)2.18666980
41Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.15178896
42Abnormality of alanine metabolism (HP:0010916)2.15178896
43Hyperalaninemia (HP:0003348)2.15178896
44Congenital, generalized hypertrichosis (HP:0004540)2.08398302
45Increased intramyocellular lipid droplets (HP:0012240)2.07941925
46Polyphagia (HP:0002591)2.06016671
47Hyperglycinemia (HP:0002154)2.05049883
48Abnormality of the anterior horn cell (HP:0006802)2.03338140
49Degeneration of anterior horn cells (HP:0002398)2.03338140
50Exercise intolerance (HP:0003546)2.00733496
51Lethargy (HP:0001254)1.99850394
52Intestinal atresia (HP:0011100)1.99113582
53Hypoglycemic coma (HP:0001325)1.96857323
54X-linked dominant inheritance (HP:0001423)1.96799552
55Aplasia/Hypoplasia of the tongue (HP:0010295)1.93226951
56Increased serum pyruvate (HP:0003542)1.93113172
57Abnormality of the renal medulla (HP:0100957)1.92747665
58Colon cancer (HP:0003003)1.92266685
59Abnormality of serum amino acid levels (HP:0003112)1.90824264
60Febrile seizures (HP:0002373)1.90312711
61Cerebral hypomyelination (HP:0006808)1.89887858
62Type I transferrin isoform profile (HP:0003642)1.89719614
63Renal cortical cysts (HP:0000803)1.89299203
64Hyperinsulinemic hypoglycemia (HP:0000825)1.87822759
65CNS demyelination (HP:0007305)1.87633396
66Abnormality of vitamin B metabolism (HP:0004340)1.86982954
67Exertional dyspnea (HP:0002875)1.84962080
68Abnormality of aspartate family amino acid metabolism (HP:0010899)1.82737166
69Poor suck (HP:0002033)1.82253605
70Abnormality of glycolysis (HP:0004366)1.79550001
71Postaxial hand polydactyly (HP:0001162)1.78852598
72Abnormality of the renal cortex (HP:0011035)1.78167030
73Abnormality of urine glucose concentration (HP:0011016)1.77750405
74Glycosuria (HP:0003076)1.77750405
75Poor coordination (HP:0002370)1.77545273
76Abnormality of the vitamin B12 metabolism (HP:0004341)1.76516007
77Retinal dysplasia (HP:0007973)1.76193314
78Sclerocornea (HP:0000647)1.76131330
79Hemiparesis (HP:0001269)1.75205918
80Hyperventilation (HP:0002883)1.73653698
81Abnormality of renal resorption (HP:0011038)1.73396411
82Specific learning disability (HP:0001328)1.73334256
83Abnormal protein glycosylation (HP:0012346)1.73160833
84Abnormal glycosylation (HP:0012345)1.73160833
85Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.73160833
86Abnormal protein N-linked glycosylation (HP:0012347)1.73160833
87Optic nerve hypoplasia (HP:0000609)1.72944018
88Abnormality of methionine metabolism (HP:0010901)1.72036429
89Aplasia/Hypoplasia of the tibia (HP:0005772)1.70504612
90Short tibia (HP:0005736)1.69663981
91Muscular hypotonia of the trunk (HP:0008936)1.69274871
92Abnormality of serine family amino acid metabolism (HP:0010894)1.68921338
93Abnormality of glycine metabolism (HP:0010895)1.68921338
94Volvulus (HP:0002580)1.68587594
95Bifid tongue (HP:0010297)1.68393739
96Neuroendocrine neoplasm (HP:0100634)1.67904534
97Type II lissencephaly (HP:0007260)1.67815522
98Atrophy/Degeneration involving motor neurons (HP:0007373)1.66906156
99Congenital stationary night blindness (HP:0007642)1.66723711
100Abnormal biliary tract physiology (HP:0012439)1.66634798

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIM282.77679862
2MAP4K22.74038682
3MST42.69767118
4WNK32.67202962
5MAP3K122.36835692
6FRK2.32344253
7CASK2.24746040
8BCR2.05122628
9BUB12.04716002
10EIF2AK12.03680237
11EIF2AK31.94246485
12PLK21.84502010
13NEK11.84090170
14NUAK11.83360685
15SRPK11.83212014
16MARK11.82114836
17BMPR1B1.81735257
18TSSK61.78223593
19ERBB31.74939046
20PBK1.74306791
21STK161.66474742
22TNIK1.64756029
23PLK31.64510247
24VRK21.63693836
25MAP3K41.59849989
26MAPK131.54802015
27EPHA41.50507927
28CSNK1G21.40665047
29MKNK21.40183450
30ZAK1.38691549
31PINK11.34567843
32CSNK1G31.30955384
33MAP2K71.26621267
34MKNK11.26027064
35VRK11.25948074
36PAK31.25892115
37CSNK1G11.25047537
38OXSR11.24635351
39NME11.21419304
40INSRR1.20824746
41PDK21.19812271
42PLK41.19781133
43DYRK21.18427173
44LIMK11.16489008
45GRK11.16181405
46PNCK1.13743487
47CSNK1A1L1.06906491
48BCKDK1.06366792
49MINK11.05520927
50PHKG20.99951856
51PHKG10.99951856
52WEE10.96949525
53ADRBK20.95528818
54PRKCG0.90890728
55TTK0.89326783
56STK390.89263484
57PRKCE0.86901683
58BRSK20.84172013
59STK38L0.80387979
60NTRK30.78364873
61MYLK0.77151333
62PLK10.76849536
63CDK190.75161283
64CAMK2A0.70963329
65CDC70.69527466
66ACVR1B0.69048692
67NTRK20.67082726
68UHMK10.66702354
69DAPK10.65702812
70SIK30.63117159
71DAPK20.61500572
72CCNB10.60562760
73TESK10.58823296
74GRK50.58402211
75FER0.57032265
76EIF2AK20.56124765
77PKN10.52661800
78ERBB40.50954118
79CAMK2D0.47338666
80BRSK10.47107575
81PAK60.44482604
82CSNK1A10.42276192
83CAMK2G0.41057036
84CAMK2B0.41018852
85CDK140.40737357
86FGFR20.40232783
87DYRK1A0.38259203
88MUSK0.37502523
89CDK180.37313381
90EPHA30.36691788
91CSNK2A10.36640897
92OBSCN0.36634926
93PRKACA0.36104883
94ADRBK10.35596768
95CDK50.33845425
96CAMKK20.33167011
97CSNK1E0.32218640
98PRKCI0.31911357
99PRKG10.31695422
100ATR0.31695074

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030603.85557233
2Oxidative phosphorylation_Homo sapiens_hsa001903.80060155
3Proteasome_Homo sapiens_hsa030503.71573947
4Parkinsons disease_Homo sapiens_hsa050123.25015458
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.50241820
6Huntingtons disease_Homo sapiens_hsa050162.23444736
7Alzheimers disease_Homo sapiens_hsa050102.14971296
8Propanoate metabolism_Homo sapiens_hsa006402.12453020
9RNA polymerase_Homo sapiens_hsa030202.12130127
10Fatty acid elongation_Homo sapiens_hsa000621.85120662
11Basal transcription factors_Homo sapiens_hsa030221.75378228
12Nicotine addiction_Homo sapiens_hsa050331.74354220
13Collecting duct acid secretion_Homo sapiens_hsa049661.74162627
14Butanoate metabolism_Homo sapiens_hsa006501.73246601
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.72471419
16Mismatch repair_Homo sapiens_hsa034301.70358751
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.68226914
18Cardiac muscle contraction_Homo sapiens_hsa042601.61851626
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.59836813
20Non-homologous end-joining_Homo sapiens_hsa034501.53214204
21Phototransduction_Homo sapiens_hsa047441.51749969
22RNA degradation_Homo sapiens_hsa030181.48539681
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.47775064
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.43817845
25Homologous recombination_Homo sapiens_hsa034401.43523719
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.41689852
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.34014895
28Steroid biosynthesis_Homo sapiens_hsa001001.25303659
29Fanconi anemia pathway_Homo sapiens_hsa034601.24350946
30Pyruvate metabolism_Homo sapiens_hsa006201.20663465
31Folate biosynthesis_Homo sapiens_hsa007901.17729273
32Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.17724116
33Nucleotide excision repair_Homo sapiens_hsa034201.16807899
34Synaptic vesicle cycle_Homo sapiens_hsa047211.16411291
35Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.11277757
36Peroxisome_Homo sapiens_hsa041461.08719411
37Nitrogen metabolism_Homo sapiens_hsa009101.07350774
38Regulation of autophagy_Homo sapiens_hsa041401.05804953
39GABAergic synapse_Homo sapiens_hsa047271.04895852
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.04443138
41Ribosome_Homo sapiens_hsa030101.01570637
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.99701537
43RNA transport_Homo sapiens_hsa030130.98442886
44Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.98144605
45Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97032322
46Purine metabolism_Homo sapiens_hsa002300.94601042
47Spliceosome_Homo sapiens_hsa030400.93938982
48beta-Alanine metabolism_Homo sapiens_hsa004100.91080438
49Glutathione metabolism_Homo sapiens_hsa004800.89839189
50Pyrimidine metabolism_Homo sapiens_hsa002400.84611711
51Vitamin B6 metabolism_Homo sapiens_hsa007500.84096748
52Primary bile acid biosynthesis_Homo sapiens_hsa001200.83040364
53Tryptophan metabolism_Homo sapiens_hsa003800.82513505
54Maturity onset diabetes of the young_Homo sapiens_hsa049500.81370187
552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.81242628
56One carbon pool by folate_Homo sapiens_hsa006700.80649148
57* Oocyte meiosis_Homo sapiens_hsa041140.80318733
58Base excision repair_Homo sapiens_hsa034100.79003028
59Metabolic pathways_Homo sapiens_hsa011000.77916482
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.77524897
61DNA replication_Homo sapiens_hsa030300.76548320
62Sulfur metabolism_Homo sapiens_hsa009200.76390597
63Vibrio cholerae infection_Homo sapiens_hsa051100.75765372
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.74578668
65Fatty acid metabolism_Homo sapiens_hsa012120.74570617
66Taste transduction_Homo sapiens_hsa047420.72228897
67Circadian entrainment_Homo sapiens_hsa047130.71746153
68Morphine addiction_Homo sapiens_hsa050320.69703564
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.69335761
70Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.68902309
71Caffeine metabolism_Homo sapiens_hsa002320.68475189
72Selenocompound metabolism_Homo sapiens_hsa004500.67954449
73Chemical carcinogenesis_Homo sapiens_hsa052040.67441524
74Amphetamine addiction_Homo sapiens_hsa050310.67143343
75Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.66581074
76Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.64381815
77Carbon metabolism_Homo sapiens_hsa012000.63588311
78Dopaminergic synapse_Homo sapiens_hsa047280.63150443
79Fatty acid degradation_Homo sapiens_hsa000710.62808917
80Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61602271
81Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61575046
82Olfactory transduction_Homo sapiens_hsa047400.61420295
83Glutamatergic synapse_Homo sapiens_hsa047240.61060064
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60032399
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.60029638
86Arginine and proline metabolism_Homo sapiens_hsa003300.58746192
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58663680
88Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.58379470
89Insulin secretion_Homo sapiens_hsa049110.54440745
90Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.51741214
91Linoleic acid metabolism_Homo sapiens_hsa005910.48947076
92Serotonergic synapse_Homo sapiens_hsa047260.47535831
93Retinol metabolism_Homo sapiens_hsa008300.46620249
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44539855
95Cocaine addiction_Homo sapiens_hsa050300.42747800
96Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.40579802
97Ether lipid metabolism_Homo sapiens_hsa005650.40350978
98* Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.39974023
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38404572
100alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.36942947

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