KRBOX4

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 encodes a zinc finger protein with an N-terminal KRAB (Kruppel-associated) domain found in transcriptional repressors. This gene is located in a region of the X chromosome thought to be involved in nonsyndromic X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.66719157
2epithelial cilium movement (GO:0003351)4.31389442
3respiratory chain complex IV assembly (GO:0008535)3.95150877
4protein complex biogenesis (GO:0070271)3.75332484
5regulation of cilium movement (GO:0003352)3.73327344
6platelet dense granule organization (GO:0060155)3.72853237
7cilium movement (GO:0003341)3.67267734
8cilium or flagellum-dependent cell motility (GO:0001539)3.61847590
9mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.57917329
10behavioral response to nicotine (GO:0035095)3.57201730
11axoneme assembly (GO:0035082)3.53621240
12cytochrome complex assembly (GO:0017004)3.50852359
13L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.50733327
14axonemal dynein complex assembly (GO:0070286)3.43834086
15nonmotile primary cilium assembly (GO:0035058)3.43294310
16mitochondrial respiratory chain complex assembly (GO:0033108)3.40819581
17protein-cofactor linkage (GO:0018065)3.38100396
18detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.37573931
19water-soluble vitamin biosynthetic process (GO:0042364)3.32739907
20signal peptide processing (GO:0006465)3.29741323
21cilium morphogenesis (GO:0060271)3.26858531
22negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.19911414
23negative regulation of translation, ncRNA-mediated (GO:0040033)3.19911414
24regulation of translation, ncRNA-mediated (GO:0045974)3.19911414
25replication fork processing (GO:0031297)3.17180131
26energy coupled proton transport, down electrochemical gradient (GO:0015985)3.16617397
27ATP synthesis coupled proton transport (GO:0015986)3.16617397
28mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.15444587
29presynaptic membrane organization (GO:0097090)3.13864197
30presynaptic membrane assembly (GO:0097105)3.12939387
31mitochondrial respiratory chain complex I assembly (GO:0032981)3.12387535
32NADH dehydrogenase complex assembly (GO:0010257)3.12387535
33mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.12387535
34response to pheromone (GO:0019236)3.06006127
35tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.00936684
36RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.00936684
37amino acid salvage (GO:0043102)3.00450922
38L-methionine salvage (GO:0071267)3.00450922
39L-methionine biosynthetic process (GO:0071265)3.00450922
40DNA double-strand break processing (GO:0000729)2.99691639
41intraciliary transport (GO:0042073)2.98403173
42cilium organization (GO:0044782)2.98112721
43protein polyglutamylation (GO:0018095)2.98035869
44retinal cone cell development (GO:0046549)2.96389674
45neural tube formation (GO:0001841)2.96341110
46establishment of protein localization to mitochondrial membrane (GO:0090151)2.92239271
47cullin deneddylation (GO:0010388)2.91026376
48cilium assembly (GO:0042384)2.89675575
49tryptophan catabolic process (GO:0006569)2.89661263
50indole-containing compound catabolic process (GO:0042436)2.89661263
51indolalkylamine catabolic process (GO:0046218)2.89661263
52dopamine transport (GO:0015872)2.86058986
53photoreceptor cell maintenance (GO:0045494)2.85479245
54indolalkylamine metabolic process (GO:0006586)2.84554279
55protein localization to cilium (GO:0061512)2.80663859
56behavioral response to ethanol (GO:0048149)2.80634601
57nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.79645266
58sequestering of actin monomers (GO:0042989)2.77538709
59seminiferous tubule development (GO:0072520)2.77467510
60centriole replication (GO:0007099)2.76628086
61pyrimidine nucleobase catabolic process (GO:0006208)2.76468956
62cellular biogenic amine catabolic process (GO:0042402)2.76290525
63amine catabolic process (GO:0009310)2.76290525
64mannosylation (GO:0097502)2.75922166
65peptidyl-histidine modification (GO:0018202)2.75087219
66protein neddylation (GO:0045116)2.75031619
67regulation of hexokinase activity (GO:1903299)2.74863951
68regulation of glucokinase activity (GO:0033131)2.74863951
69negative regulation of telomere maintenance (GO:0032205)2.73773382
70kidney morphogenesis (GO:0060993)2.70707094
71neuronal action potential (GO:0019228)2.69391013
72branched-chain amino acid catabolic process (GO:0009083)2.69131583
73maturation of 5.8S rRNA (GO:0000460)2.68797939
74fucose catabolic process (GO:0019317)2.68444977
75L-fucose metabolic process (GO:0042354)2.68444977
76L-fucose catabolic process (GO:0042355)2.68444977
77positive regulation of mitochondrial fission (GO:0090141)2.67464932
78postsynaptic membrane organization (GO:0001941)2.66500724
79proteasome assembly (GO:0043248)2.64565817
80electron transport chain (GO:0022900)2.64413917
81exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.63499250
82preassembly of GPI anchor in ER membrane (GO:0016254)2.63043355
83detection of light stimulus involved in visual perception (GO:0050908)2.62875403
84detection of light stimulus involved in sensory perception (GO:0050962)2.62875403
85prenylation (GO:0097354)2.62815699
86protein prenylation (GO:0018342)2.62815699
87anterograde synaptic vesicle transport (GO:0048490)2.62206174
88cellular ketone body metabolic process (GO:0046950)2.62076073
89peristalsis (GO:0030432)2.62067267
90respiratory electron transport chain (GO:0022904)2.62064869
91somatic hypermutation of immunoglobulin genes (GO:0016446)2.59871512
92somatic diversification of immune receptors via somatic mutation (GO:0002566)2.59871512
93tryptophan metabolic process (GO:0006568)2.55704624
94kynurenine metabolic process (GO:0070189)2.55414310
95protein localization to synapse (GO:0035418)2.54088243
96retinal ganglion cell axon guidance (GO:0031290)2.53134810
97transmission of nerve impulse (GO:0019226)2.52698399
98ribonucleoprotein complex disassembly (GO:0032988)2.49898753
99protein deneddylation (GO:0000338)2.48576274
100cornea development in camera-type eye (GO:0061303)2.47269464

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.40188566
2GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.93149477
3IGF1R_20145208_ChIP-Seq_DFB_Human2.83677938
4VDR_22108803_ChIP-Seq_LS180_Human2.81153602
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.75443922
6GABP_17652178_ChIP-ChIP_JURKAT_Human2.71138970
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.68985252
8GBX2_23144817_ChIP-Seq_PC3_Human2.68477564
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.56737143
10FUS_26573619_Chip-Seq_HEK293_Human2.47189318
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.46150019
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.43399619
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.42412626
14EWS_26573619_Chip-Seq_HEK293_Human2.38059198
15TAF15_26573619_Chip-Seq_HEK293_Human2.34571657
16SALL1_21062744_ChIP-ChIP_HESCs_Human2.32658995
17P300_19829295_ChIP-Seq_ESCs_Human2.17024300
18CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16220230
19FLI1_27457419_Chip-Seq_LIVER_Mouse2.14036054
20CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.08573767
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.95174533
22CTBP1_25329375_ChIP-Seq_LNCAP_Human1.92033127
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.84443443
24RBPJ_22232070_ChIP-Seq_NCS_Mouse1.82842002
25ELK1_19687146_ChIP-ChIP_HELA_Human1.81221417
26ER_23166858_ChIP-Seq_MCF-7_Human1.72796202
27PCGF2_27294783_Chip-Seq_ESCs_Mouse1.68961846
28AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.67977212
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.63501698
30PIAS1_25552417_ChIP-Seq_VCAP_Human1.60993338
31MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.60239032
32SMAD4_21799915_ChIP-Seq_A2780_Human1.55945011
33SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.52643727
34EZH2_22144423_ChIP-Seq_EOC_Human1.52039277
35MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.51017740
36UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.49802944
37MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.47747089
38IRF1_19129219_ChIP-ChIP_H3396_Human1.45767212
39HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.44371922
40VDR_23849224_ChIP-Seq_CD4+_Human1.42601386
41TOP2B_26459242_ChIP-Seq_MCF-7_Human1.42282194
42MYC_18940864_ChIP-ChIP_HL60_Human1.41756443
43EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.41253141
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.40966493
45BCAT_22108803_ChIP-Seq_LS180_Human1.40324070
46IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40097613
47CBP_20019798_ChIP-Seq_JUKART_Human1.40097613
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36603914
49PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.36085265
50SUZ12_27294783_Chip-Seq_NPCs_Mouse1.36050682
51STAT3_23295773_ChIP-Seq_U87_Human1.36044626
52AR_25329375_ChIP-Seq_VCAP_Human1.36019443
53NOTCH1_21737748_ChIP-Seq_TLL_Human1.35566372
54EZH2_27294783_Chip-Seq_NPCs_Mouse1.34309673
55NANOG_19829295_ChIP-Seq_ESCs_Human1.33310856
56SOX2_19829295_ChIP-Seq_ESCs_Human1.33310856
57SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33052445
58TP53_22573176_ChIP-Seq_HFKS_Human1.32011886
59CBX2_27304074_Chip-Seq_ESCs_Mouse1.31760032
60SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.30030949
61RNF2_27304074_Chip-Seq_NSC_Mouse1.28819076
62FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.27421334
63GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.26555461
64NFE2_27457419_Chip-Seq_LIVER_Mouse1.25199490
65ETS1_20019798_ChIP-Seq_JURKAT_Human1.25152818
66TCF4_22108803_ChIP-Seq_LS180_Human1.22152969
67CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.21899722
68KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21884076
69BMI1_23680149_ChIP-Seq_NPCS_Mouse1.20896092
70EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.19998435
71NANOG_18555785_Chip-Seq_ESCs_Mouse1.19254496
72POU5F1_16153702_ChIP-ChIP_HESCs_Human1.19100125
73SMAD3_21741376_ChIP-Seq_EPCs_Human1.18907133
74TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18645430
75RUNX2_22187159_ChIP-Seq_PCA_Human1.17958285
76TCF4_23295773_ChIP-Seq_U87_Human1.17147114
77ELF1_17652178_ChIP-ChIP_JURKAT_Human1.16650333
78POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13522650
79TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13522650
80P53_22387025_ChIP-Seq_ESCs_Mouse1.12262191
81RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.11104252
82NR3C1_21868756_ChIP-Seq_MCF10A_Human1.09466370
83FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08991465
84FOXA1_25329375_ChIP-Seq_VCAP_Human1.08991465
85FOXA1_21572438_ChIP-Seq_LNCaP_Human1.08870607
86PADI4_21655091_ChIP-ChIP_MCF-7_Human1.08445281
87CRX_20693478_ChIP-Seq_RETINA_Mouse1.07822977
88CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.07394191
89SRF_21415370_ChIP-Seq_HL-1_Mouse1.07257560
90REST_21632747_ChIP-Seq_MESCs_Mouse1.03385193
91JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.03273655
92FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.01434051
93KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01074990
94BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.00624529
95PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.99919412
96PCGF2_27294783_Chip-Seq_NPCs_Mouse0.99309448
97CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.99307052
98AR_20517297_ChIP-Seq_VCAP_Human0.99138981
99JUN_21703547_ChIP-Seq_K562_Human0.99118115
100CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.98389475

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.27648525
2MP0002102_abnormal_ear_morphology3.48530786
3MP0008877_abnormal_DNA_methylation2.83957617
4MP0003136_yellow_coat_color2.65444248
5MP0001968_abnormal_touch/_nociception2.47654287
6MP0005551_abnormal_eye_electrophysiolog2.45162446
7MP0000372_irregular_coat_pigmentation2.37337447
8MP0003787_abnormal_imprinting2.28774025
9MP0001986_abnormal_taste_sensitivity2.25597074
10MP0002653_abnormal_ependyma_morphology2.11084427
11MP0002638_abnormal_pupillary_reflex2.06362109
12MP0008058_abnormal_DNA_repair1.99364440
13MP0002736_abnormal_nociception_after1.95892577
14MP0002837_dystrophic_cardiac_calcinosis1.91766084
15MP0001984_abnormal_olfaction1.91576443
16MP0005084_abnormal_gallbladder_morpholo1.90517798
17MP0005253_abnormal_eye_physiology1.88625446
18MP0006072_abnormal_retinal_apoptosis1.87822240
19MP0001529_abnormal_vocalization1.85662812
20MP0005646_abnormal_pituitary_gland1.85528820
21MP0003011_delayed_dark_adaptation1.84585488
22MP0006276_abnormal_autonomic_nervous1.81859254
23MP0002234_abnormal_pharynx_morphology1.78084897
24MP0008789_abnormal_olfactory_epithelium1.75903633
25MP0004142_abnormal_muscle_tone1.72711081
26MP0003195_calcinosis1.72054211
27MP0002272_abnormal_nervous_system1.65106762
28MP0002735_abnormal_chemical_nociception1.64663532
29MP0006292_abnormal_olfactory_placode1.62983817
30MP0009046_muscle_twitch1.60437364
31MP0003121_genomic_imprinting1.56145951
32MP0008872_abnormal_physiological_respon1.51877917
33MP0004133_heterotaxia1.49493440
34MP0009745_abnormal_behavioral_response1.49203749
35MP0002938_white_spotting1.48973347
36MP0001486_abnormal_startle_reflex1.48313670
37MP0001485_abnormal_pinna_reflex1.47418525
38MP0000631_abnormal_neuroendocrine_gland1.45349161
39MP0005645_abnormal_hypothalamus_physiol1.42521879
40MP0003122_maternal_imprinting1.42376150
41MP0000427_abnormal_hair_cycle1.33284123
42MP0002876_abnormal_thyroid_physiology1.31601150
43MP0000778_abnormal_nervous_system1.31203966
44MP0002734_abnormal_mechanical_nocicepti1.26999791
45MP0002928_abnormal_bile_duct1.26893391
46MP0005394_taste/olfaction_phenotype1.26840741
47MP0005499_abnormal_olfactory_system1.26840741
48MP0002557_abnormal_social/conspecific_i1.25261386
49MP0001293_anophthalmia1.19187217
50MP0001764_abnormal_homeostasis1.18433418
51MP0006054_spinal_hemorrhage1.16409717
52MP0005423_abnormal_somatic_nervous1.14889437
53MP0003646_muscle_fatigue1.13677688
54MP0005195_abnormal_posterior_eye1.13266195
55MP0002572_abnormal_emotion/affect_behav1.09877503
56MP0001188_hyperpigmentation1.09689320
57MP0004924_abnormal_behavior1.09225788
58MP0005386_behavior/neurological_phenoty1.09225788
59MP0008995_early_reproductive_senescence1.04570863
60MP0003718_maternal_effect1.02910740
61MP0005174_abnormal_tail_pigmentation1.02084029
62MP0008775_abnormal_heart_ventricle1.01328162
63MP0002160_abnormal_reproductive_system1.00697294
64MP0001905_abnormal_dopamine_level1.00420548
65MP0002751_abnormal_autonomic_nervous1.00236624
66MP0001324_abnormal_eye_pigmentation0.99698512
67MP0001970_abnormal_pain_threshold0.99473160
68MP0008875_abnormal_xenobiotic_pharmacok0.96621662
69MP0002064_seizures0.96089068
70MP0002095_abnormal_skin_pigmentation0.95656964
71MP0006035_abnormal_mitochondrial_morpho0.95630215
72MP0002067_abnormal_sensory_capabilities0.95403935
73MP0004215_abnormal_myocardial_fiber0.92670411
74MP0010386_abnormal_urinary_bladder0.91968109
75MP0002752_abnormal_somatic_nervous0.91528967
76MP0005391_vision/eye_phenotype0.91274436
77MP0005187_abnormal_penis_morphology0.89677062
78MP0002277_abnormal_respiratory_mucosa0.89196878
79MP0002909_abnormal_adrenal_gland0.88999074
80MP0002233_abnormal_nose_morphology0.88783123
81MP0002733_abnormal_thermal_nociception0.88737769
82MP0005389_reproductive_system_phenotype0.88562984
83MP0002184_abnormal_innervation0.88288500
84MP0003635_abnormal_synaptic_transmissio0.86851074
85MP0000569_abnormal_digit_pigmentation0.86715557
86MP0006036_abnormal_mitochondrial_physio0.86590404
87MP0004885_abnormal_endolymph0.86026025
88MP0000955_abnormal_spinal_cord0.85745584
89MP0001501_abnormal_sleep_pattern0.85043120
90MP0003283_abnormal_digestive_organ0.84356001
91MP0003119_abnormal_digestive_system0.84159647
92MP0000026_abnormal_inner_ear0.83282215
93MP0004145_abnormal_muscle_electrophysio0.82601367
94MP0003890_abnormal_embryonic-extraembry0.82454038
95MP0001286_abnormal_eye_development0.79213410
96MP0002282_abnormal_trachea_morphology0.79208687
97MP0004147_increased_porphyrin_level0.78886979
98MP0000647_abnormal_sebaceous_gland0.77754244
99MP0003938_abnormal_ear_development0.76629336
100MP0002063_abnormal_learning/memory/cond0.76471275

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.96844423
2Medial flaring of the eyebrow (HP:0010747)3.88022543
3Pancreatic fibrosis (HP:0100732)3.82793216
4True hermaphroditism (HP:0010459)3.73742221
5Absent rod-and cone-mediated responses on ERG (HP:0007688)3.57640451
6Molar tooth sign on MRI (HP:0002419)3.48533368
7Abnormality of midbrain morphology (HP:0002418)3.48533368
8Nephronophthisis (HP:0000090)3.48337935
9Abnormal rod and cone electroretinograms (HP:0008323)3.30989118
10Gait imbalance (HP:0002141)3.28601889
11Congenital primary aphakia (HP:0007707)3.24885812
12Absent/shortened dynein arms (HP:0200106)3.18275914
13Dynein arm defect of respiratory motile cilia (HP:0012255)3.18275914
14Abnormal respiratory motile cilium morphology (HP:0005938)3.10781349
15Abnormal respiratory epithelium morphology (HP:0012253)3.10781349
16Nephrogenic diabetes insipidus (HP:0009806)3.04704993
17Abnormality of the renal medulla (HP:0100957)2.88036665
18Increased hepatocellular lipid droplets (HP:0006565)2.85520452
19Acute necrotizing encephalopathy (HP:0006965)2.84826982
20Congenital stationary night blindness (HP:0007642)2.79088880
21Chronic hepatic failure (HP:0100626)2.78056346
22Mitochondrial inheritance (HP:0001427)2.74579477
23Hyperventilation (HP:0002883)2.74434936
24Genital tract atresia (HP:0001827)2.71238769
25Progressive macrocephaly (HP:0004481)2.70331658
26Lipid accumulation in hepatocytes (HP:0006561)2.70119025
27Abnormal ciliary motility (HP:0012262)2.68832038
28Vaginal atresia (HP:0000148)2.63871653
29Increased CSF lactate (HP:0002490)2.59606541
30Renal Fanconi syndrome (HP:0001994)2.58790443
31Attenuation of retinal blood vessels (HP:0007843)2.55157014
32Acute encephalopathy (HP:0006846)2.50684760
33Abnormal mitochondria in muscle tissue (HP:0008316)2.44254506
34Abolished electroretinogram (ERG) (HP:0000550)2.42682000
35Methylmalonic acidemia (HP:0002912)2.41938799
36Hypothermia (HP:0002045)2.41173960
37Intestinal atresia (HP:0011100)2.39137598
38Sclerocornea (HP:0000647)2.36808879
39Hyperglycinemia (HP:0002154)2.35155070
40Abnormality of the renal cortex (HP:0011035)2.30041465
41Broad-based gait (HP:0002136)2.28610591
42Cystic liver disease (HP:0006706)2.28365850
43Aplasia/Hypoplasia of the tongue (HP:0010295)2.27581395
44Pendular nystagmus (HP:0012043)2.25142373
45Anencephaly (HP:0002323)2.24596316
46Decreased central vision (HP:0007663)2.21035148
47Tubular atrophy (HP:0000092)2.20766420
48Hepatocellular necrosis (HP:0001404)2.20307288
49Type II lissencephaly (HP:0007260)2.18789535
50Abnormality of the labia minora (HP:0012880)2.18497318
51Male pseudohermaphroditism (HP:0000037)2.16460967
52Poor coordination (HP:0002370)2.15012707
53Bile duct proliferation (HP:0001408)2.13046863
54Abnormal biliary tract physiology (HP:0012439)2.13046863
55Abnormal respiratory motile cilium physiology (HP:0012261)2.11554160
56Constricted visual fields (HP:0001133)2.06685689
57Tubulointerstitial nephritis (HP:0001970)2.05837097
58Oligodactyly (hands) (HP:0001180)2.04917513
59Hepatic necrosis (HP:0002605)2.04724197
60Postaxial foot polydactyly (HP:0001830)2.04194054
61Drooling (HP:0002307)2.02904090
62Increased corneal curvature (HP:0100692)2.01593460
63Keratoconus (HP:0000563)2.01593460
64Optic disc pallor (HP:0000543)2.01355424
65Renal cortical cysts (HP:0000803)2.01129354
66Lissencephaly (HP:0001339)2.00265989
67Colon cancer (HP:0003003)1.98795323
68Broad foot (HP:0001769)1.98527859
69Aplasia/Hypoplasia of the tibia (HP:0005772)1.96135286
70Postaxial hand polydactyly (HP:0001162)1.94619461
713-Methylglutaconic aciduria (HP:0003535)1.93355144
72Bony spicule pigmentary retinopathy (HP:0007737)1.91008648
73Gaze-evoked nystagmus (HP:0000640)1.90447345
74Specific learning disability (HP:0001328)1.90193611
75Abnormality of renal resorption (HP:0011038)1.84232251
76Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.84228745
77Abnormality of alanine metabolism (HP:0010916)1.84228745
78Hyperalaninemia (HP:0003348)1.84228745
79Congenital, generalized hypertrichosis (HP:0004540)1.83643890
80Furrowed tongue (HP:0000221)1.82723305
81Hemiparesis (HP:0001269)1.82555051
82Excessive salivation (HP:0003781)1.81107466
83Methylmalonic aciduria (HP:0012120)1.80618097
84Large for gestational age (HP:0001520)1.80238593
85Chorioretinal atrophy (HP:0000533)1.79443717
86Growth hormone deficiency (HP:0000824)1.78354458
87Atonic seizures (HP:0010819)1.78176645
88Cerebral edema (HP:0002181)1.74431380
89Decreased testicular size (HP:0008734)1.73986882
90Disproportionate short-trunk short stature (HP:0003521)1.73632991
91Congenital hepatic fibrosis (HP:0002612)1.72489148
92Anophthalmia (HP:0000528)1.72412863
93Thyroiditis (HP:0100646)1.72102780
94Inability to walk (HP:0002540)1.71869324
95Retinitis pigmentosa (HP:0000510)1.71608489
96Supernumerary spleens (HP:0009799)1.71233282
97Hyperglycinuria (HP:0003108)1.70681423
98Exertional dyspnea (HP:0002875)1.70003586
99Aplasia/Hypoplasia of the lens (HP:0008063)1.68553596
100Astigmatism (HP:0000483)1.68365951

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.66205554
2CASK3.57993341
3WNK33.13583361
4MAP4K22.80436365
5TRIM282.75713772
6TNIK2.47816407
7BMPR1B2.44474869
8NUAK12.29641556
9MAP3K42.14257065
10ADRBK22.06439924
11PINK11.99369104
12MST41.92123771
13INSRR1.85710377
14STK161.84211380
15BCR1.81425261
16GRK11.71835594
17VRK21.70162159
18MAPK131.52277946
19PAK31.46252149
20ACVR1B1.45518677
21DYRK21.45499186
22EIF2AK31.45382999
23ERBB31.45300616
24ZAK1.44251104
25MAP2K71.42196651
26PLK21.36048014
27MKNK21.33082850
28CSNK1G21.29268711
29VRK11.25722933
30WNK41.25196882
31PNCK1.22636257
32CSNK1A1L1.21077403
33CSNK1G31.20910323
34CSNK1G11.17658703
35OXSR11.17197908
36MARK11.12693711
37STK391.09144286
38MKNK11.07614288
39FGFR21.07419129
40PRKCG1.07047926
41PLK31.02917790
42PRKCE1.01090761
43PLK41.00871808
44MAP3K121.00010466
45SIK30.96213581
46BCKDK0.94879976
47SRPK10.88624900
48DAPK20.86730493
49TAOK30.86533909
50STK38L0.86460701
51EPHA40.84483768
52TGFBR10.84477341
53EIF2AK10.76872261
54PDK20.75049106
55ADRBK10.72302755
56NTRK30.66779910
57MINK10.66318219
58PIK3CA0.65847106
59CDK190.60401488
60WEE10.59051953
61NEK10.58447122
62DYRK30.58162745
63CCNB10.54551835
64BRSK20.53956620
65TAF10.51839164
66LIMK10.50330274
67TLK10.49931724
68AKT30.49702796
69PHKG20.49614492
70PHKG10.49614492
71PLK10.48368588
72IRAK10.48312797
73CAMK2A0.47425141
74MAP2K40.47223962
75TIE10.46632005
76KIT0.45538937
77DYRK1A0.45277084
78PRKCQ0.44853982
79FLT30.43905997
80PKN10.43095202
81MARK30.42423236
82PRKCI0.41103528
83MUSK0.39354840
84PRKACA0.39124238
85CSNK1A10.38943738
86STK30.33598201
87NME10.33089565
88PRKG10.32181952
89NTRK20.31442709
90CAMK10.30876088
91CAMKK20.30759433
92EIF2AK20.29911764
93CDC70.29211727
94TXK0.28633007
95RPS6KA50.28572619
96BMPR20.28182160
97ATM0.27905109
98CSNK2A10.27864884
99CSNK2A20.27424442
100FER0.26677881

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.17564392
2Protein export_Homo sapiens_hsa030603.16382271
3Parkinsons disease_Homo sapiens_hsa050122.79222317
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.76785477
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.54791652
6Phototransduction_Homo sapiens_hsa047442.35286335
7RNA polymerase_Homo sapiens_hsa030202.34413472
8Proteasome_Homo sapiens_hsa030502.28176815
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.16570230
10Nicotine addiction_Homo sapiens_hsa050332.14320664
11Basal transcription factors_Homo sapiens_hsa030222.13142046
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.10513162
13Propanoate metabolism_Homo sapiens_hsa006402.09775751
14Butanoate metabolism_Homo sapiens_hsa006502.07616119
15Maturity onset diabetes of the young_Homo sapiens_hsa049502.00435810
16Huntingtons disease_Homo sapiens_hsa050161.94361644
17Homologous recombination_Homo sapiens_hsa034401.75255862
18Alzheimers disease_Homo sapiens_hsa050101.72341683
19Linoleic acid metabolism_Homo sapiens_hsa005911.67124569
20Non-homologous end-joining_Homo sapiens_hsa034501.64413031
21Fanconi anemia pathway_Homo sapiens_hsa034601.60525897
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.50767245
23RNA degradation_Homo sapiens_hsa030181.48083799
24alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.44726017
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.42078794
26Nitrogen metabolism_Homo sapiens_hsa009101.40213334
27Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.39497593
28Primary bile acid biosynthesis_Homo sapiens_hsa001201.39420769
29Tryptophan metabolism_Homo sapiens_hsa003801.38385040
30Peroxisome_Homo sapiens_hsa041461.37009409
31Ribosome_Homo sapiens_hsa030101.36571064
32Cardiac muscle contraction_Homo sapiens_hsa042601.31803883
33Selenocompound metabolism_Homo sapiens_hsa004501.31741664
34Ether lipid metabolism_Homo sapiens_hsa005651.27919722
35Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.27648724
36Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.21373908
37Steroid biosynthesis_Homo sapiens_hsa001001.21184581
38Fatty acid elongation_Homo sapiens_hsa000621.18932912
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.13524928
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.06646427
41Morphine addiction_Homo sapiens_hsa050321.04721963
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.03138140
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.02941675
44Caffeine metabolism_Homo sapiens_hsa002321.01591922
45Taste transduction_Homo sapiens_hsa047421.00307558
46GABAergic synapse_Homo sapiens_hsa047270.98013074
47Olfactory transduction_Homo sapiens_hsa047400.96945679
48beta-Alanine metabolism_Homo sapiens_hsa004100.96170829
49Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.95270179
50Regulation of autophagy_Homo sapiens_hsa041400.94048065
51Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.93318333
52Chemical carcinogenesis_Homo sapiens_hsa052040.89987019
53Folate biosynthesis_Homo sapiens_hsa007900.89282737
54Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.86377826
55One carbon pool by folate_Homo sapiens_hsa006700.85444010
56Purine metabolism_Homo sapiens_hsa002300.82327925
57Retinol metabolism_Homo sapiens_hsa008300.81833932
58Steroid hormone biosynthesis_Homo sapiens_hsa001400.81736806
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.80087677
60Metabolic pathways_Homo sapiens_hsa011000.79826383
61Insulin secretion_Homo sapiens_hsa049110.78213116
62RNA transport_Homo sapiens_hsa030130.76810967
63Collecting duct acid secretion_Homo sapiens_hsa049660.76678345
64Arachidonic acid metabolism_Homo sapiens_hsa005900.75672424
65Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74717244
66Mismatch repair_Homo sapiens_hsa034300.74024659
67Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72380957
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.71389415
69Nucleotide excision repair_Homo sapiens_hsa034200.70975794
70Circadian entrainment_Homo sapiens_hsa047130.70586414
71Cocaine addiction_Homo sapiens_hsa050300.69220380
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.68826856
73Glutamatergic synapse_Homo sapiens_hsa047240.68526112
74Pyrimidine metabolism_Homo sapiens_hsa002400.67585325
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.67467292
76Pentose and glucuronate interconversions_Homo sapiens_hsa000400.67412242
77Serotonergic synapse_Homo sapiens_hsa047260.67121038
78Sulfur relay system_Homo sapiens_hsa041220.66861885
79Dopaminergic synapse_Homo sapiens_hsa047280.66744260
80Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.65543421
81Hedgehog signaling pathway_Homo sapiens_hsa043400.62443901
82Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59721288
83Basal cell carcinoma_Homo sapiens_hsa052170.58398603
84Amphetamine addiction_Homo sapiens_hsa050310.56739849
85ABC transporters_Homo sapiens_hsa020100.56415537
86SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53947248
87Fatty acid degradation_Homo sapiens_hsa000710.53880494
88Glutathione metabolism_Homo sapiens_hsa004800.53596924
89Fatty acid metabolism_Homo sapiens_hsa012120.53451003
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.49178106
91Pyruvate metabolism_Homo sapiens_hsa006200.46716351
92Sulfur metabolism_Homo sapiens_hsa009200.45105698
93Fat digestion and absorption_Homo sapiens_hsa049750.40322497
94Glycerolipid metabolism_Homo sapiens_hsa005610.36405182
95Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.35786807
96Calcium signaling pathway_Homo sapiens_hsa040200.35697648
97Histidine metabolism_Homo sapiens_hsa003400.34556080
98Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.31532012
99Base excision repair_Homo sapiens_hsa034100.31454727
100Long-term depression_Homo sapiens_hsa047300.30394666

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