SUMO4

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 is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein K11-linked deubiquitination (GO:0035871)9.69276568
2sulfation (GO:0051923)5.64152529
3serotonin receptor signaling pathway (GO:0007210)5.49904215
4interferon-gamma production (GO:0032609)5.18668952
5regulation of appetite (GO:0032098)4.90738957
6activated T cell proliferation (GO:0050798)4.66479315
7phosphatidylinositol acyl-chain remodeling (GO:0036149)4.46862313
8protein K48-linked deubiquitination (GO:0071108)4.42912855
9positive regulation of hair cycle (GO:0042635)4.33556349
10positive regulation of hair follicle development (GO:0051798)4.33556349
11negative regulation of mast cell activation (GO:0033004)4.21148957
12rRNA catabolic process (GO:0016075)4.16556640
13negative regulation of interleukin-8 production (GO:0032717)4.10439905
14negative regulation of calcium ion transport into cytosol (GO:0010523)4.09762354
15phosphatidylserine acyl-chain remodeling (GO:0036150)4.07170522
16angiogenesis involved in wound healing (GO:0060055)4.03770920
17regulation of cilium movement (GO:0003352)3.98472833
18disruption of cells of other organism (GO:0044364)3.95849741
19killing of cells of other organism (GO:0031640)3.95849741
20protein K63-linked deubiquitination (GO:0070536)3.91968667
21cilium or flagellum-dependent cell motility (GO:0001539)3.89647170
22negative regulation by host of viral transcription (GO:0043922)3.86206565
23nephron tubule morphogenesis (GO:0072078)3.82442710
24nephron epithelium morphogenesis (GO:0072088)3.82442710
25negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.81770860
26hematopoietic stem cell proliferation (GO:0071425)3.81515280
27regulation of Cdc42 GTPase activity (GO:0043088)3.78462062
28neuron fate determination (GO:0048664)3.77187537
29detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.73376111
30negative regulation of calcium ion-dependent exocytosis (GO:0045955)3.70110271
31DNA double-strand break processing (GO:0000729)3.69130516
32indole-containing compound catabolic process (GO:0042436)3.61926196
33indolalkylamine catabolic process (GO:0046218)3.61926196
34tryptophan catabolic process (GO:0006569)3.61926196
35lymphangiogenesis (GO:0001946)3.59238859
36establishment of protein localization to Golgi (GO:0072600)3.57981589
37thyroid hormone metabolic process (GO:0042403)3.55791165
38glycerophospholipid catabolic process (GO:0046475)3.44900508
39epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.43189588
40DNA deamination (GO:0045006)3.41976567
41phosphatidylethanolamine acyl-chain remodeling (GO:0036152)3.39506695
42positive regulation of osteoblast proliferation (GO:0033690)3.37809446
43central nervous system myelination (GO:0022010)3.35527756
44axon ensheathment in central nervous system (GO:0032291)3.35527756
453-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.34609064
46purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.34609064
47negative regulation of circadian rhythm (GO:0042754)3.31931420
48maturation of 5.8S rRNA (GO:0000460)3.27729259
49detection of light stimulus involved in sensory perception (GO:0050962)3.26206742
50detection of light stimulus involved in visual perception (GO:0050908)3.26206742
51flavonoid metabolic process (GO:0009812)3.24620766
52protein complex biogenesis (GO:0070271)3.20927326
53replication fork processing (GO:0031297)3.20541447
54organic cation transport (GO:0015695)3.18740140
55hindbrain development (GO:0030902)3.10160930
56protein-cofactor linkage (GO:0018065)3.09942381
57mitochondrial respiratory chain complex I assembly (GO:0032981)3.08992447
58NADH dehydrogenase complex assembly (GO:0010257)3.08992447
59mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.08992447
60defense response to fungus (GO:0050832)3.04095248
61glycoprotein catabolic process (GO:0006516)3.03964118
62tryptophan metabolic process (GO:0006568)3.00859644
63mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.00778623
64retinal cone cell development (GO:0046549)3.00294003
65mucosal immune response (GO:0002385)2.95886702
66indolalkylamine metabolic process (GO:0006586)2.95542002
67mitochondrial respiratory chain complex assembly (GO:0033108)2.91184291
68cellular ketone body metabolic process (GO:0046950)2.89046814
69regulation of mesenchymal cell apoptotic process (GO:2001053)2.88956568
70positive regulation of cAMP-mediated signaling (GO:0043950)2.88671824
71cysteine metabolic process (GO:0006534)2.87827176
72regulation of B cell receptor signaling pathway (GO:0050855)2.86704072
73regulation of hair follicle development (GO:0051797)2.85460604
74RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.85374347
75sex differentiation (GO:0007548)2.82497361
76cilium morphogenesis (GO:0060271)2.80890552
77startle response (GO:0001964)2.79532706
78positive regulation of oligodendrocyte differentiation (GO:0048714)2.79054928
79regulation of vasculogenesis (GO:2001212)2.78531511
80otic vesicle formation (GO:0030916)2.77151283
81establishment of protein localization to mitochondrial membrane (GO:0090151)2.75278919
82phosphatidylcholine acyl-chain remodeling (GO:0036151)2.74827857
83behavioral response to nicotine (GO:0035095)2.71579566
84regulation of sarcomere organization (GO:0060297)2.71493833
85cell killing (GO:0001906)2.70837853
86amino-acid betaine metabolic process (GO:0006577)2.70646788
87histone mRNA catabolic process (GO:0071044)2.69401392
88renal tubule morphogenesis (GO:0061333)2.67277092
89S-adenosylmethionine metabolic process (GO:0046500)2.66506031
90positive regulation of vasculogenesis (GO:2001214)2.66077319
91neural tube formation (GO:0001841)2.65021857
92organ or tissue specific immune response (GO:0002251)2.64447905
93omega-hydroxylase P450 pathway (GO:0097267)2.63594498
94protein targeting to Golgi (GO:0000042)2.63444180
95reflex (GO:0060004)2.60945189
96regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.60558154
97seminiferous tubule development (GO:0072520)2.60266699
98microtubule depolymerization (GO:0007019)2.59293601
99pseudouridine synthesis (GO:0001522)2.58930483
100piRNA metabolic process (GO:0034587)2.57935828

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human5.11374270
2TAF15_26573619_Chip-Seq_HEK293_Human3.20628904
3IGF1R_20145208_ChIP-Seq_DFB_Human3.06433288
4ZNF274_21170338_ChIP-Seq_K562_Hela2.92014969
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.70546063
6VDR_22108803_ChIP-Seq_LS180_Human2.64320029
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.52906881
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.51158990
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.40382815
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.33361165
11CTBP1_25329375_ChIP-Seq_LNCAP_Human2.32576203
12EWS_26573619_Chip-Seq_HEK293_Human2.24815017
13CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13614942
14ER_23166858_ChIP-Seq_MCF-7_Human2.13542370
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.07420240
16RBPJ_22232070_ChIP-Seq_NCS_Mouse1.96854274
17CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.93042319
18PCGF2_27294783_Chip-Seq_ESCs_Mouse1.90467671
19P300_19829295_ChIP-Seq_ESCs_Human1.87356011
20EZH2_22144423_ChIP-Seq_EOC_Human1.87259956
21FUS_26573619_Chip-Seq_HEK293_Human1.84207820
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.82827607
23UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.78752635
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.74979918
25AR_25329375_ChIP-Seq_VCAP_Human1.70340131
26IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.70189000
27CBP_20019798_ChIP-Seq_JUKART_Human1.70189000
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.68537710
29EZH2_27294783_Chip-Seq_NPCs_Mouse1.64318679
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.61605812
31SMAD_19615063_ChIP-ChIP_OVARY_Human1.55388116
32EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.51766679
33MYC_18940864_ChIP-ChIP_HL60_Human1.50885366
34FLI1_21867929_ChIP-Seq_TH2_Mouse1.48284481
35AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.46400344
36NOTCH1_21737748_ChIP-Seq_TLL_Human1.46148304
37MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.45777059
38SMAD4_21799915_ChIP-Seq_A2780_Human1.45453438
39TP53_16413492_ChIP-PET_HCT116_Human1.43898972
40NR3C1_21868756_ChIP-Seq_MCF10A_Human1.43852969
41PCGF2_27294783_Chip-Seq_NPCs_Mouse1.43220185
42CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.42255676
43KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.42027313
44CRX_20693478_ChIP-Seq_RETINA_Mouse1.41075810
45STAT3_23295773_ChIP-Seq_U87_Human1.40438402
46NFE2_27457419_Chip-Seq_LIVER_Mouse1.39794863
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39707805
48OCT4_21477851_ChIP-Seq_ESCs_Mouse1.36895625
49BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.36828109
50IRF1_19129219_ChIP-ChIP_H3396_Human1.35968850
51TCF4_22108803_ChIP-Seq_LS180_Human1.35311516
52* TP53_22573176_ChIP-Seq_HFKS_Human1.34616382
53PIAS1_25552417_ChIP-Seq_VCAP_Human1.32026716
54TCF4_23295773_ChIP-Seq_U87_Human1.31200482
55SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29532718
56GATA3_21878914_ChIP-Seq_MCF-7_Human1.29345742
57AUTS2_25519132_ChIP-Seq_293T-REX_Human1.28017407
58SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.27956084
59GABP_17652178_ChIP-ChIP_JURKAT_Human1.27461386
60IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.26774343
61AR_21572438_ChIP-Seq_LNCaP_Human1.26250231
62FOXA1_27270436_Chip-Seq_PROSTATE_Human1.26199956
63FOXA1_25329375_ChIP-Seq_VCAP_Human1.26199956
64BCAT_22108803_ChIP-Seq_LS180_Human1.25514837
65PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.23777002
66IRF8_21731497_ChIP-ChIP_J774_Mouse1.23417536
67SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.23061989
68NANOG_18555785_Chip-Seq_ESCs_Mouse1.22864191
69* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.22202558
70MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.20461728
71SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18950486
72POU5F1_16153702_ChIP-ChIP_HESCs_Human1.17883620
73EGR1_23403033_ChIP-Seq_LIVER_Mouse1.17842822
74VDR_23849224_ChIP-Seq_CD4+_Human1.14257276
75PRDM14_20953172_ChIP-Seq_ESCs_Human1.14128859
76RUNX2_22187159_ChIP-Seq_PCA_Human1.13975296
77TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.13310676
78EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.12621459
79SMAD4_21741376_ChIP-Seq_EPCs_Human1.11790862
80SMAD3_21741376_ChIP-Seq_EPCs_Human1.11282671
81EST1_17652178_ChIP-ChIP_JURKAT_Human1.10822936
82TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10551655
83KLF5_20875108_ChIP-Seq_MESCs_Mouse1.09198999
84P53_22387025_ChIP-Seq_ESCs_Mouse1.07774735
85* CDX2_22108803_ChIP-Seq_LS180_Human1.05511359
86PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.04618919
87EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04459313
88CBX2_27304074_Chip-Seq_ESCs_Mouse1.03139222
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.03108482
90SOX2_19829295_ChIP-Seq_ESCs_Human1.02342634
91NANOG_19829295_ChIP-Seq_ESCs_Human1.02342634
92JUN_21703547_ChIP-Seq_K562_Human1.00828891
93CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.00444418
94RNF2_27304074_Chip-Seq_NSC_Mouse0.99371572
95LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96839066
96AR_20517297_ChIP-Seq_VCAP_Human0.96652313
97STAT3_18555785_Chip-Seq_ESCs_Mouse0.96237812
98PHF8_20622853_ChIP-Seq_HELA_Human0.94975384
99TOP2B_26459242_ChIP-Seq_MCF-7_Human0.94397211
100P300_18555785_Chip-Seq_ESCs_Mouse0.94014576

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation3.93084547
2MP0002138_abnormal_hepatobiliary_system3.81705333
3MP0003183_abnormal_peptide_metabolism2.92103771
4MP0005310_abnormal_salivary_gland2.64662303
5MP0001984_abnormal_olfaction2.59797461
6MP0008875_abnormal_xenobiotic_pharmacok2.39855475
7MP0001919_abnormal_reproductive_system2.35269206
8MP0005551_abnormal_eye_electrophysiolog2.33498085
9MP0003136_yellow_coat_color2.30135611
10MP0006072_abnormal_retinal_apoptosis2.13513069
11MP0002653_abnormal_ependyma_morphology2.11295576
12MP0002139_abnormal_hepatobiliary_system1.99640063
13MP0005389_reproductive_system_phenotype1.98529937
14MP0000613_abnormal_salivary_gland1.91663390
15MP0002254_reproductive_system_inflammat1.85799767
16MP0003195_calcinosis1.84384518
17MP0008877_abnormal_DNA_methylation1.83967408
18MP0005670_abnormal_white_adipose1.80813758
19MP0003806_abnormal_nucleotide_metabolis1.79571486
20MP0003787_abnormal_imprinting1.71795141
21MP0001873_stomach_inflammation1.65965228
22MP0004043_abnormal_pH_regulation1.65845462
23MP0006292_abnormal_olfactory_placode1.64695986
24MP0002160_abnormal_reproductive_system1.63438734
25MP0004142_abnormal_muscle_tone1.60617505
26MP0005253_abnormal_eye_physiology1.56876798
27MP0005084_abnormal_gallbladder_morpholo1.56803996
28MP0009745_abnormal_behavioral_response1.55140403
29MP0001968_abnormal_touch/_nociception1.54932999
30MP0005187_abnormal_penis_morphology1.54223040
31MP0005174_abnormal_tail_pigmentation1.52040325
32MP0002736_abnormal_nociception_after1.51909075
33MP0002102_abnormal_ear_morphology1.47442447
34MP0001486_abnormal_startle_reflex1.45715499
35MP0004145_abnormal_muscle_electrophysio1.39407556
36MP0001764_abnormal_homeostasis1.39033337
37MP0002735_abnormal_chemical_nociception1.34715624
38MP0009046_muscle_twitch1.32866436
39MP0002272_abnormal_nervous_system1.32062043
40MP0002064_seizures1.29469949
41MP0006276_abnormal_autonomic_nervous1.28700765
42MP0008058_abnormal_DNA_repair1.27863809
43MP0002876_abnormal_thyroid_physiology1.25389746
44MP0001485_abnormal_pinna_reflex1.25000314
45MP0003724_increased_susceptibility_to1.22582246
46MP0005645_abnormal_hypothalamus_physiol1.21389388
47MP0004885_abnormal_endolymph1.21111828
48MP0001986_abnormal_taste_sensitivity1.21028021
49MP0004742_abnormal_vestibular_system1.20188729
50MP0000631_abnormal_neuroendocrine_gland1.19941888
51MP0006054_spinal_hemorrhage1.18687374
52MP0010386_abnormal_urinary_bladder1.18070330
53MP0003880_abnormal_central_pattern1.14988957
54MP0002928_abnormal_bile_duct1.11326199
55MP0004147_increased_porphyrin_level1.09783424
56MP0008872_abnormal_physiological_respon1.09168413
57MP0002277_abnormal_respiratory_mucosa1.08274547
58MP0000049_abnormal_middle_ear1.07494668
59MP0002234_abnormal_pharynx_morphology1.06556915
60MP0000230_abnormal_systemic_arterial1.06410194
61MP0003718_maternal_effect1.04166905
62MP0006082_CNS_inflammation1.03725247
63MP0000427_abnormal_hair_cycle1.03262105
64MP0005360_urolithiasis1.01454297
65MP0000647_abnormal_sebaceous_gland1.00917922
66MP0001970_abnormal_pain_threshold0.99565438
67MP0002837_dystrophic_cardiac_calcinosis0.98886174
68MP0005195_abnormal_posterior_eye0.98347839
69MP0001529_abnormal_vocalization0.98196157
70MP0002006_tumorigenesis0.97188075
71MP0006035_abnormal_mitochondrial_morpho0.94707490
72MP0002572_abnormal_emotion/affect_behav0.90619686
73MP0005085_abnormal_gallbladder_physiolo0.89283028
74MP0009697_abnormal_copulation0.87536030
75MP0009764_decreased_sensitivity_to0.86880556
76MP0002090_abnormal_vision0.86335472
77MP0003315_abnormal_perineum_morphology0.86190799
78MP0005647_abnormal_sex_gland0.85643581
79MP0001324_abnormal_eye_pigmentation0.82329713
80MP0001879_abnormal_lymphatic_vessel0.79991208
81MP0002067_abnormal_sensory_capabilities0.79503352
82MP0005671_abnormal_response_to0.79211714
83MP0002752_abnormal_somatic_nervous0.78629186
84MP0001501_abnormal_sleep_pattern0.78240768
85MP0005646_abnormal_pituitary_gland0.77959203
86MP0001727_abnormal_embryo_implantation0.76510513
87MP0002733_abnormal_thermal_nociception0.76245515
88MP0003936_abnormal_reproductive_system0.76127717
89MP0005386_behavior/neurological_phenoty0.75530057
90MP0004924_abnormal_behavior0.75530057
91MP0001905_abnormal_dopamine_level0.73857302
92MP0000778_abnormal_nervous_system0.71572397
93MP0002210_abnormal_sex_determination0.71429930
94MP0002229_neurodegeneration0.70798821
95MP0002557_abnormal_social/conspecific_i0.70375421
96MP0002970_abnormal_white_adipose0.69942389
97MP0003698_abnormal_male_reproductive0.69781648
98MP0008873_increased_physiological_sensi0.67118957
99MP0003635_abnormal_synaptic_transmissio0.66557663
100MP0001790_abnormal_immune_system0.66494113

Predicted human phenotypes

RankGene SetZ-score
1True hermaphroditism (HP:0010459)5.06266513
2Abnormality of midbrain morphology (HP:0002418)4.33515430
3Molar tooth sign on MRI (HP:0002419)4.33515430
4Pancreatic cysts (HP:0001737)4.23785063
5Pancreatic fibrosis (HP:0100732)4.17370281
6Retrobulbar optic neuritis (HP:0100654)3.54408321
7Optic neuritis (HP:0100653)3.54408321
8Congenital stationary night blindness (HP:0007642)3.49015042
9Nephronophthisis (HP:0000090)3.21340610
10Gonadotropin excess (HP:0000837)3.15062275
11Congenital sensorineural hearing impairment (HP:0008527)3.12793128
12Lower limb hyperreflexia (HP:0002395)3.10883937
13Dynein arm defect of respiratory motile cilia (HP:0012255)3.04397534
14Absent/shortened dynein arms (HP:0200106)3.04397534
15Renal cortical cysts (HP:0000803)2.98336709
16Hyperventilation (HP:0002883)2.95901844
17Keratoconjunctivitis (HP:0001096)2.95855242
18Aplasia/Hypoplasia of the tibia (HP:0005772)2.95044086
19Agnosia (HP:0010524)2.91573835
20Chronic hepatic failure (HP:0100626)2.80719251
21Abnormality of the renal cortex (HP:0011035)2.79890630
22Orchitis (HP:0100796)2.77539385
23Male pseudohermaphroditism (HP:0000037)2.76272344
24Disinhibition (HP:0000734)2.71644456
25Attenuation of retinal blood vessels (HP:0007843)2.69918456
26Abolished electroretinogram (ERG) (HP:0000550)2.60893623
27Hypoplasia of the uterus (HP:0000013)2.60432064
28Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.58047378
29Abnormality of the renal medulla (HP:0100957)2.57014761
30Medial flaring of the eyebrow (HP:0010747)2.54562011
31Decreased circulating renin level (HP:0003351)2.53836859
32Acute encephalopathy (HP:0006846)2.51771907
33Cystic liver disease (HP:0006706)2.48003606
34Hyperglycinuria (HP:0003108)2.45837381
35Acute necrotizing encephalopathy (HP:0006965)2.44539594
36Decreased electroretinogram (ERG) amplitude (HP:0000654)2.44411116
37Aplasia/Hypoplasia of the tongue (HP:0010295)2.35044414
38Abnormal respiratory epithelium morphology (HP:0012253)2.31113775
39Abnormal respiratory motile cilium morphology (HP:0005938)2.31113775
40Keratoconjunctivitis sicca (HP:0001097)2.30550097
41Constricted visual fields (HP:0001133)2.24554229
42Aplasia/hypoplasia of the uterus (HP:0008684)2.23828549
43Abnormal mitochondria in muscle tissue (HP:0008316)2.21464105
44Encephalitis (HP:0002383)2.21331286
453-Methylglutaconic aciduria (HP:0003535)2.19149496
46Poikiloderma (HP:0001029)2.17898862
47Increased CSF lactate (HP:0002490)2.15883543
48Postaxial foot polydactyly (HP:0001830)2.15728850
49Myositis (HP:0100614)2.15614799
50Mitochondrial inheritance (HP:0001427)2.14870596
51Sclerocornea (HP:0000647)2.13691785
52Aplasia/Hypoplasia of the spleen (HP:0010451)2.13464176
53Abnormal ciliary motility (HP:0012262)2.12940531
54Hepatocellular necrosis (HP:0001404)2.09905572
55Furrowed tongue (HP:0000221)2.09387671
56Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.09300225
57Progressive macrocephaly (HP:0004481)2.08828763
58Abnormality of the pericardium (HP:0001697)2.08816963
59Anencephaly (HP:0002323)2.07236586
60Congenital, generalized hypertrichosis (HP:0004540)2.06700044
61Hepatic necrosis (HP:0002605)2.05782357
62Inappropriate behavior (HP:0000719)2.05067922
63Abnormal number of erythroid precursors (HP:0012131)2.05036972
64Elevated erythrocyte sedimentation rate (HP:0003565)2.03674163
65Tachypnea (HP:0002789)2.00033724
66Absent speech (HP:0001344)1.99453490
67Hyperglycinemia (HP:0002154)1.99368340
68Optic nerve hypoplasia (HP:0000609)1.98572522
69Bony spicule pigmentary retinopathy (HP:0007737)1.96950733
70Abnormal biliary tract physiology (HP:0012439)1.96419763
71Bile duct proliferation (HP:0001408)1.96419763
72Congenital hepatic fibrosis (HP:0002612)1.96101519
73Methylmalonic acidemia (HP:0002912)1.94326181
74Congenital primary aphakia (HP:0007707)1.93814149
75Progressive cerebellar ataxia (HP:0002073)1.93443159
76Abnormal drinking behavior (HP:0030082)1.90637602
77Polydipsia (HP:0001959)1.90637602
78Mesangial abnormality (HP:0001966)1.89614395
79Focal motor seizures (HP:0011153)1.89211876
80Gait imbalance (HP:0002141)1.88526482
81Optic disc pallor (HP:0000543)1.88255881
82Hemoptysis (HP:0002105)1.87871443
83Stomatitis (HP:0010280)1.86496599
84Oculomotor apraxia (HP:0000657)1.86291908
85Tubular atrophy (HP:0000092)1.84642046
86Cerebral edema (HP:0002181)1.83714291
87Short tibia (HP:0005736)1.83078532
88Preaxial foot polydactyly (HP:0001841)1.81478315
89Large for gestational age (HP:0001520)1.80886121
90Inability to walk (HP:0002540)1.79438748
91Asplenia (HP:0001746)1.76584510
92Abnormality of glycine metabolism (HP:0010895)1.73000188
93Abnormality of serine family amino acid metabolism (HP:0010894)1.73000188
94Occipital encephalocele (HP:0002085)1.72817650
95Preaxial hand polydactyly (HP:0001177)1.71407405
96Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.70283210
97Narrow forehead (HP:0000341)1.70187240
98Progressive inability to walk (HP:0002505)1.69376744
99Colon cancer (HP:0003003)1.68991850
100Poor head control (HP:0002421)1.67806268

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.89600942
2NEK14.60622947
3TXK4.15868444
4WNK34.13131537
5ZAK2.74417343
6PNCK2.58302697
7IRAK12.27413919
8GRK12.26670050
9TNIK2.22985646
10NEK22.17373129
11TSSK62.12843624
12WEE12.11487085
13NUAK12.00417641
14MAPKAPK51.86116691
15BCKDK1.85560634
16MAP4K21.81762125
17ADRBK21.68785853
18MAPKAPK31.66447999
19MAPK131.62802821
20PINK11.61146428
21TAOK31.59121965
22PLK41.55983685
23BMPR1B1.32639075
24AKT31.10656580
25NLK1.10002772
26BLK1.08616184
27VRK11.05588476
28OXSR11.02700112
29DYRK21.01162688
30BCR1.00499938
31MAPK150.97368329
32BUB10.90989885
33PLK30.89850402
34EPHA30.87954953
35EIF2AK10.87819414
36PLK20.85592526
37WNK40.84791594
38CSNK1G20.81683790
39TTK0.75773937
40EIF2AK30.73793892
41CAMKK20.70704160
42PRKCG0.69804630
43TRPM70.69761386
44PTK2B0.68800112
45NTRK30.68158067
46TLK10.67617146
47FER0.67015187
48EPHA40.65341709
49CDK90.64915872
50TEC0.64875047
51CSNK1G30.64526801
52TIE10.63239678
53ADRBK10.62411717
54MAP3K40.61721073
55CAMK1D0.60105010
56EPHB20.58757577
57STK390.58385211
58DAPK20.58241860
59MST40.57870001
60FLT30.54292705
61PRKCE0.53943063
62PLK10.53890024
63YES10.53597159
64PIK3CA0.53004538
65MKNK20.52510783
66CDK30.51774757
67SYK0.50460133
68PRKCZ0.49862262
69RPS6KA50.48614447
70GRK70.48463237
71CSNK1G10.47678787
72INSRR0.47260707
73ITK0.46550146
74IKBKB0.45960284
75CDC70.45719908
76RPS6KA40.44613222
77CSNK1A1L0.44470645
78KIT0.43943829
79MKNK10.42721719
80PRKCQ0.42370528
81ERBB30.42134390
82IGF1R0.42052124
83LATS10.41515458
84PRKG10.40368608
85DYRK30.39056659
86EIF2AK20.36845445
87LYN0.33990678
88GRK50.33501269
89LCK0.31806674
90CSK0.31663673
91PRKACA0.30117132
92CSF1R0.29951325
93CAMK2A0.29422956
94PRKCB0.27948846
95CHEK20.27921891
96PRKACB0.26584105
97CSNK2A10.26080679
98CAMK40.26044567
99OBSCN0.25556431
100MAP2K60.25360711

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.62096837
2Linoleic acid metabolism_Homo sapiens_hsa005913.35758160
3Ether lipid metabolism_Homo sapiens_hsa005652.60298797
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.44142647
5Nitrogen metabolism_Homo sapiens_hsa009102.34211188
6Oxidative phosphorylation_Homo sapiens_hsa001902.32362789
7Phototransduction_Homo sapiens_hsa047442.08994582
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.06449092
9Proteasome_Homo sapiens_hsa030501.96315390
10Parkinsons disease_Homo sapiens_hsa050121.94299605
11Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.94266564
12Propanoate metabolism_Homo sapiens_hsa006401.93713245
13Homologous recombination_Homo sapiens_hsa034401.89011232
14Fanconi anemia pathway_Homo sapiens_hsa034601.88895010
15Butanoate metabolism_Homo sapiens_hsa006501.85729210
16Primary bile acid biosynthesis_Homo sapiens_hsa001201.82942945
17Arachidonic acid metabolism_Homo sapiens_hsa005901.82091904
18RNA polymerase_Homo sapiens_hsa030201.79340284
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.76743005
20Nicotine addiction_Homo sapiens_hsa050331.55115896
21Steroid hormone biosynthesis_Homo sapiens_hsa001401.53279567
22Selenocompound metabolism_Homo sapiens_hsa004501.44442029
23Huntingtons disease_Homo sapiens_hsa050161.42005563
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.41307095
25RNA degradation_Homo sapiens_hsa030181.39298025
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.34701590
27Autoimmune thyroid disease_Homo sapiens_hsa053201.29662887
28Alzheimers disease_Homo sapiens_hsa050101.28516120
29Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.26184108
30Tryptophan metabolism_Homo sapiens_hsa003801.24305288
31Peroxisome_Homo sapiens_hsa041461.24215078
32Allograft rejection_Homo sapiens_hsa053301.24163130
33Protein export_Homo sapiens_hsa030601.23654948
34Graft-versus-host disease_Homo sapiens_hsa053321.18461953
35Asthma_Homo sapiens_hsa053101.14629448
36Glycerolipid metabolism_Homo sapiens_hsa005611.14598927
37Maturity onset diabetes of the young_Homo sapiens_hsa049501.14334329
38Intestinal immune network for IgA production_Homo sapiens_hsa046721.12843277
39Sulfur relay system_Homo sapiens_hsa041221.12021991
40Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.11737361
41Chemical carcinogenesis_Homo sapiens_hsa052041.11559853
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.09499091
43Salivary secretion_Homo sapiens_hsa049701.09246129
44Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.07485806
45Basal transcription factors_Homo sapiens_hsa030221.06552308
46Antigen processing and presentation_Homo sapiens_hsa046121.06076384
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.00826065
48Nucleotide excision repair_Homo sapiens_hsa034201.00166855
49Olfactory transduction_Homo sapiens_hsa047400.98992611
50Base excision repair_Homo sapiens_hsa034100.98734864
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.98166529
52Serotonergic synapse_Homo sapiens_hsa047260.97369820
53Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.96400075
54Morphine addiction_Homo sapiens_hsa050320.89854167
55Pyrimidine metabolism_Homo sapiens_hsa002400.89334067
56Mismatch repair_Homo sapiens_hsa034300.88598933
57Primary immunodeficiency_Homo sapiens_hsa053400.88581880
58Glycerophospholipid metabolism_Homo sapiens_hsa005640.85782280
59Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.84480848
60Type I diabetes mellitus_Homo sapiens_hsa049400.81703320
61Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.80212127
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.79232716
63Calcium signaling pathway_Homo sapiens_hsa040200.78581011
64Retinol metabolism_Homo sapiens_hsa008300.76542360
65Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.73769080
66Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.70925075
67Fat digestion and absorption_Homo sapiens_hsa049750.69355952
68Staphylococcus aureus infection_Homo sapiens_hsa051500.68935099
69Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.66379475
70Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.65251899
71Sulfur metabolism_Homo sapiens_hsa009200.64990390
72Glutathione metabolism_Homo sapiens_hsa004800.63388462
73Taste transduction_Homo sapiens_hsa047420.63197998
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.62662728
75Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.62568485
76Purine metabolism_Homo sapiens_hsa002300.61340804
77Metabolic pathways_Homo sapiens_hsa011000.60631197
78Histidine metabolism_Homo sapiens_hsa003400.59259275
79Ovarian steroidogenesis_Homo sapiens_hsa049130.58202127
80Dorso-ventral axis formation_Homo sapiens_hsa043200.57656521
81Regulation of autophagy_Homo sapiens_hsa041400.56505812
82DNA replication_Homo sapiens_hsa030300.55643127
83Hematopoietic cell lineage_Homo sapiens_hsa046400.55214248
84Rheumatoid arthritis_Homo sapiens_hsa053230.54589190
85Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.54364490
86N-Glycan biosynthesis_Homo sapiens_hsa005100.52567692
87Non-homologous end-joining_Homo sapiens_hsa034500.49325999
88One carbon pool by folate_Homo sapiens_hsa006700.48901025
89Fatty acid degradation_Homo sapiens_hsa000710.47708944
90cAMP signaling pathway_Homo sapiens_hsa040240.47428735
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.45880159
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.44818536
93* RNA transport_Homo sapiens_hsa030130.42278122
94Ribosome_Homo sapiens_hsa030100.40672722
95Lysine degradation_Homo sapiens_hsa003100.40340785
96Jak-STAT signaling pathway_Homo sapiens_hsa046300.39388564
97GABAergic synapse_Homo sapiens_hsa047270.37361913
98Cardiac muscle contraction_Homo sapiens_hsa042600.37032348
99Collecting duct acid secretion_Homo sapiens_hsa049660.35176089
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33668257

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