ZNF717

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 Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of sarcomere organization (GO:0060297)8.10296977
2regulation of skeletal muscle contraction (GO:0014819)7.29847172
3negative regulation of protein localization to cell surface (GO:2000009)5.83214562
4ribonucleoprotein complex disassembly (GO:0032988)5.59252249
5plasma membrane repair (GO:0001778)5.50038379
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.86268116
7negative regulation of nitric-oxide synthase activity (GO:0051001)4.71242811
8organelle disassembly (GO:1903008)4.69129479
9negative regulation of potassium ion transmembrane transport (GO:1901380)4.61364213
10positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc4.58277642
11regulation of action potential (GO:0098900)4.47309064
12negative regulation of muscle hypertrophy (GO:0014741)4.24623552
13positive regulation of catecholamine secretion (GO:0033605)4.20662916
14branched-chain amino acid catabolic process (GO:0009083)4.01743538
15piRNA metabolic process (GO:0034587)3.87224655
16negative regulation of neurotransmitter secretion (GO:0046929)3.86434572
17negative regulation of organelle assembly (GO:1902116)3.79453391
18epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.77408701
19regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.75635922
20serotonin receptor signaling pathway (GO:0007210)3.57758828
21negative regulation of neurotransmitter transport (GO:0051589)3.55081260
22striated muscle atrophy (GO:0014891)3.50633655
23DNA methylation involved in gamete generation (GO:0043046)3.44223890
24branched-chain amino acid metabolic process (GO:0009081)3.41692253
25positive regulation of histone H3-K4 methylation (GO:0051571)3.38093464
26negative regulation of potassium ion transport (GO:0043267)3.35138980
27postreplication repair (GO:0006301)3.32919569
28negative regulation of cardiac muscle hypertrophy (GO:0010614)3.30954912
29muscle atrophy (GO:0014889)3.28491016
30oxidative demethylation (GO:0070989)3.27597689
31positive regulation of amino acid transport (GO:0051957)3.27460932
32prenylation (GO:0097354)3.20775260
33protein prenylation (GO:0018342)3.20775260
34muscle cell cellular homeostasis (GO:0046716)3.19653033
35positive regulation of microtubule polymerization (GO:0031116)3.09936599
36cellular ketone body metabolic process (GO:0046950)3.09178705
37nucleus localization (GO:0051647)3.08664549
38negative regulation of cardiac muscle tissue growth (GO:0055022)3.07123139
39negative regulation of heart growth (GO:0061117)3.07123139
40regulation of membrane repolarization (GO:0060306)3.05929434
41valine metabolic process (GO:0006573)2.99072395
42photoreceptor cell maintenance (GO:0045494)2.98732996
43ketone body metabolic process (GO:1902224)2.98730894
44muscle cell fate commitment (GO:0042693)2.96807300
45indole-containing compound catabolic process (GO:0042436)2.96525292
46indolalkylamine catabolic process (GO:0046218)2.96525292
47tryptophan catabolic process (GO:0006569)2.96525292
48negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.95987544
49regulation of hippo signaling (GO:0035330)2.93080022
50negative regulation of amino acid transport (GO:0051956)2.92775270
51cytoplasmic microtubule organization (GO:0031122)2.80045192
52single strand break repair (GO:0000012)2.79517905
53DNA deamination (GO:0045006)2.79382351
54protein complex biogenesis (GO:0070271)2.74078811
55negative regulation of cardiac muscle tissue development (GO:0055026)2.73697100
56negative regulation of cell size (GO:0045792)2.72400558
57interkinetic nuclear migration (GO:0022027)2.69892085
58cilium or flagellum-dependent cell motility (GO:0001539)2.69854174
59detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.68667703
60establishment of protein localization to Golgi (GO:0072600)2.68303026
61indolalkylamine metabolic process (GO:0006586)2.68266760
62histone H2A acetylation (GO:0043968)2.65708521
63epithelial cilium movement (GO:0003351)2.64703830
64cardiac myofibril assembly (GO:0055003)2.61055661
65negative regulation of monooxygenase activity (GO:0032769)2.60706203
66respiratory chain complex IV assembly (GO:0008535)2.60370907
67mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.59983539
68mitochondrial respiratory chain complex I assembly (GO:0032981)2.59983539
69NADH dehydrogenase complex assembly (GO:0010257)2.59983539
70activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.58446610
71gene silencing by RNA (GO:0031047)2.58311272
72mitochondrial respiratory chain complex assembly (GO:0033108)2.57567701
73ventricular cardiac muscle cell action potential (GO:0086005)2.56461388
74membrane assembly (GO:0071709)2.55891032
75tryptophan metabolic process (GO:0006568)2.55816159
76detection of light stimulus involved in sensory perception (GO:0050962)2.54295373
77detection of light stimulus involved in visual perception (GO:0050908)2.54295373
78positive regulation of granulocyte differentiation (GO:0030854)2.52762247
79synapsis (GO:0007129)2.51422219
80skeletal muscle tissue regeneration (GO:0043403)2.49697900
81DNA replication checkpoint (GO:0000076)2.49397256
82peroxisome organization (GO:0007031)2.49367806
83DNA demethylation (GO:0080111)2.48979169
84regulation of p38MAPK cascade (GO:1900744)2.48767334
85regulation of glutamate secretion (GO:0014048)2.46698420
86regulation of alkaline phosphatase activity (GO:0010692)2.45368962
87regulation of cardiac muscle cell differentiation (GO:2000725)2.44620268
88dopamine transport (GO:0015872)2.43243209
89signal peptide processing (GO:0006465)2.42862877
90cytochrome complex assembly (GO:0017004)2.41717277
91replicative senescence (GO:0090399)2.41692063
92response to pheromone (GO:0019236)2.41119860
93reciprocal meiotic recombination (GO:0007131)2.40893259
94reciprocal DNA recombination (GO:0035825)2.40893259
95protein K11-linked deubiquitination (GO:0035871)2.39109005
96protein K6-linked ubiquitination (GO:0085020)2.38993496
97negative regulation of cytosolic calcium ion concentration (GO:0051481)2.37536868
98RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.33352688
99regulation of muscle hypertrophy (GO:0014743)2.32549908
100membrane raft organization (GO:0031579)2.32520854

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* VDR_22108803_ChIP-Seq_LS180_Human3.84477521
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.22283861
3GBX2_23144817_ChIP-Seq_PC3_Human3.12649748
4* ZNF274_21170338_ChIP-Seq_K562_Hela3.11120618
5POU3F2_20337985_ChIP-ChIP_501MEL_Human3.01824581
6* IGF1R_20145208_ChIP-Seq_DFB_Human2.71724688
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.69436943
8* EWS_26573619_Chip-Seq_HEK293_Human2.54689207
9* FUS_26573619_Chip-Seq_HEK293_Human2.52940304
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.40251407
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.39952764
12SALL1_21062744_ChIP-ChIP_HESCs_Human2.35763141
13* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.27002795
14TAF15_26573619_Chip-Seq_HEK293_Human2.23456309
15AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.18410811
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.14200244
17* P300_19829295_ChIP-Seq_ESCs_Human2.12952764
18FLI1_27457419_Chip-Seq_LIVER_Mouse2.03539525
19PIAS1_25552417_ChIP-Seq_VCAP_Human1.91811301
20* ER_23166858_ChIP-Seq_MCF-7_Human1.88066857
21BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.85698634
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.85664791
23UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.78570073
24STAT3_23295773_ChIP-Seq_U87_Human1.73796976
25* SMAD4_21799915_ChIP-Seq_A2780_Human1.72277937
26ELK1_19687146_ChIP-ChIP_HELA_Human1.72084542
27HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.70692947
28SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65977392
29* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.62889322
30MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.62762576
31SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.62443867
32IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.60922759
33CBP_20019798_ChIP-Seq_JUKART_Human1.60922759
34PCGF2_27294783_Chip-Seq_ESCs_Mouse1.60376450
35PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.58128544
36* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.54372529
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52624327
38MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.52191914
39GABP_17652178_ChIP-ChIP_JURKAT_Human1.52149854
40* TCF4_23295773_ChIP-Seq_U87_Human1.51390597
41OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46207665
42BCAT_22108803_ChIP-Seq_LS180_Human1.42414160
43IRF1_19129219_ChIP-ChIP_H3396_Human1.42412304
44NANOG_18555785_Chip-Seq_ESCs_Mouse1.35421510
45AR_25329375_ChIP-Seq_VCAP_Human1.34659905
46EZH2_27294783_Chip-Seq_NPCs_Mouse1.34262019
47TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.33501792
48NR3C1_21868756_ChIP-Seq_MCF10A_Human1.33189911
49EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.29515209
50KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.29376777
51* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29304684
52EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.28872762
53MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.28683999
54RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28587310
55* SMAD3_21741376_ChIP-Seq_EPCs_Human1.27866934
56TAL1_26923725_Chip-Seq_HPCs_Mouse1.26612695
57EST1_17652178_ChIP-ChIP_JURKAT_Human1.25860085
58E2F1_18555785_Chip-Seq_ESCs_Mouse1.25597538
59CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22887679
60RBPJ_22232070_ChIP-Seq_NCS_Mouse1.21597575
61TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.20954219
62NFE2_27457419_Chip-Seq_LIVER_Mouse1.20820438
63P53_22387025_ChIP-Seq_ESCs_Mouse1.20420032
64FOXA1_21572438_ChIP-Seq_LNCaP_Human1.20250017
65RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.19522422
66SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19119032
67TP53_22573176_ChIP-Seq_HFKS_Human1.18667648
68KLF5_20875108_ChIP-Seq_MESCs_Mouse1.18459778
69RUNX2_22187159_ChIP-Seq_PCA_Human1.18080063
70VDR_23849224_ChIP-Seq_CD4+_Human1.18020070
71GATA1_22025678_ChIP-Seq_K562_Human1.17408133
72NOTCH1_21737748_ChIP-Seq_TLL_Human1.16947589
73POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15780474
74TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15780474
75CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.15685651
76CDX2_22108803_ChIP-Seq_LS180_Human1.15090272
77SOX2_19829295_ChIP-Seq_ESCs_Human1.14698019
78NANOG_19829295_ChIP-Seq_ESCs_Human1.14698019
79CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.14670664
80RNF2_27304074_Chip-Seq_NSC_Mouse1.14156457
81FOXM1_26456572_ChIP-Seq_MCF-7_Human1.13670796
82FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.12134375
83PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10631243
84P300_18555785_Chip-Seq_ESCs_Mouse1.09477984
85SMAD_19615063_ChIP-ChIP_OVARY_Human1.08779104
86PCGF2_27294783_Chip-Seq_NPCs_Mouse1.07546146
87* TCF4_22108803_ChIP-Seq_LS180_Human1.07135235
88STAT3_18555785_Chip-Seq_ESCs_Mouse1.05566834
89KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.03036148
90KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.03036148
91KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.03036148
92PRDM14_20953172_ChIP-Seq_ESCs_Human1.02229737
93CRX_20693478_ChIP-Seq_RETINA_Mouse1.01659235
94LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99894377
95FLI1_21867929_ChIP-Seq_TH2_Mouse0.99787857
96SUZ12_18555785_Chip-Seq_ESCs_Mouse0.99725851
97SOX2_18555785_Chip-Seq_ESCs_Mouse0.99065961
98CMYC_18555785_Chip-Seq_ESCs_Mouse0.98380440
99SRF_21415370_ChIP-Seq_HL-1_Mouse0.98060434
100NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.97217463

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane7.17829837
2MP0008057_abnormal_DNA_replication3.80510597
3MP0002102_abnormal_ear_morphology3.08765800
4MP0008877_abnormal_DNA_methylation2.90941537
5MP0002837_dystrophic_cardiac_calcinosis2.71943319
6MP0000372_irregular_coat_pigmentation2.68409243
7MP0008058_abnormal_DNA_repair2.64113331
8MP0000569_abnormal_digit_pigmentation2.46151732
9MP0000749_muscle_degeneration2.37569087
10MP0004084_abnormal_cardiac_muscle2.25317105
11MP0002822_catalepsy2.19027460
12MP0002234_abnormal_pharynx_morphology2.09938794
13MP0004215_abnormal_myocardial_fiber2.09575242
14MP0008961_abnormal_basal_metabolism2.02880452
15MP0009697_abnormal_copulation1.99121276
16MP0004145_abnormal_muscle_electrophysio1.97378021
17MP0006292_abnormal_olfactory_placode1.95083881
18MP0010094_abnormal_chromosome_stability1.80477249
19MP0005075_abnormal_melanosome_morpholog1.75548347
20MP0003136_yellow_coat_color1.72998906
21MP0003718_maternal_effect1.68855641
22MP0003195_calcinosis1.67051575
23MP0005171_absent_coat_pigmentation1.58840034
24MP0004147_increased_porphyrin_level1.58338672
25MP0005187_abnormal_penis_morphology1.58047995
26MP0009046_muscle_twitch1.55804645
27MP0008789_abnormal_olfactory_epithelium1.52990840
28MP0008995_early_reproductive_senescence1.51560478
29MP0002095_abnormal_skin_pigmentation1.47556317
30MP0005253_abnormal_eye_physiology1.46814524
31MP0005174_abnormal_tail_pigmentation1.44744025
32MP0002938_white_spotting1.42445194
33MP0001485_abnormal_pinna_reflex1.41532288
34MP0003786_premature_aging1.37203108
35MP0002396_abnormal_hematopoietic_system1.35216139
36MP0000427_abnormal_hair_cycle1.32213827
37MP0001984_abnormal_olfaction1.29015229
38MP0004036_abnormal_muscle_relaxation1.27302135
39MP0005551_abnormal_eye_electrophysiolog1.26674521
40MP0006072_abnormal_retinal_apoptosis1.25403765
41MP0002735_abnormal_chemical_nociception1.22105191
42MP0008872_abnormal_physiological_respon1.21885443
43MP0002638_abnormal_pupillary_reflex1.20742228
44MP0002160_abnormal_reproductive_system1.15844472
45MP0005646_abnormal_pituitary_gland1.14582294
46MP0001764_abnormal_homeostasis1.12353791
47MP0003656_abnormal_erythrocyte_physiolo1.09597876
48MP0005499_abnormal_olfactory_system1.05430800
49MP0005394_taste/olfaction_phenotype1.05430800
50MP0001486_abnormal_startle_reflex1.04928296
51MP0005220_abnormal_exocrine_pancreas1.04797358
52MP0000751_myopathy1.03185156
53MP0001293_anophthalmia1.02118786
54MP0005645_abnormal_hypothalamus_physiol1.01143073
55MP0000631_abnormal_neuroendocrine_gland1.00387441
56MP0006035_abnormal_mitochondrial_morpho0.99635632
57MP0000647_abnormal_sebaceous_gland0.98212526
58MP0008775_abnormal_heart_ventricle0.97032352
59MP0004043_abnormal_pH_regulation0.96476196
60MP0002009_preneoplasia0.93821374
61MP0001929_abnormal_gametogenesis0.91407993
62MP0004484_altered_response_of0.90468162
63MP0003828_pulmonary_edema0.85278017
64MP0003252_abnormal_bile_duct0.84759656
65MP0001968_abnormal_touch/_nociception0.84526168
66MP0005389_reproductive_system_phenotype0.84218487
67MP0000383_abnormal_hair_follicle0.82349488
68MP0003183_abnormal_peptide_metabolism0.78177656
69MP0000015_abnormal_ear_pigmentation0.77352031
70MP0003787_abnormal_imprinting0.77080155
71MP0003868_abnormal_feces_composition0.76887618
72MP0005395_other_phenotype0.76717394
73MP0005410_abnormal_fertilization0.75497931
74MP0002163_abnormal_gland_morphology0.75335029
75MP0003890_abnormal_embryonic-extraembry0.75270114
76MP0002269_muscular_atrophy0.74575313
77MP0010386_abnormal_urinary_bladder0.74054382
78MP0002233_abnormal_nose_morphology0.73964999
79MP0003698_abnormal_male_reproductive0.73292781
80MP0006276_abnormal_autonomic_nervous0.73009065
81MP0003646_muscle_fatigue0.71881463
82MP0005379_endocrine/exocrine_gland_phen0.71643045
83MP0006054_spinal_hemorrhage0.71237489
84MP0005330_cardiomyopathy0.70765497
85MP0005647_abnormal_sex_gland0.70353836
86MP0003045_fibrosis0.69670658
87MP0005391_vision/eye_phenotype0.69632293
88MP0002272_abnormal_nervous_system0.68841106
89MP0000230_abnormal_systemic_arterial0.68441079
90MP0002210_abnormal_sex_determination0.67925321
91MP0003937_abnormal_limbs/digits/tail_de0.67373829
92MP0000653_abnormal_sex_gland0.67030650
93MP0004270_analgesia0.66268089
94MP0002090_abnormal_vision0.66253550
95MP0005386_behavior/neurological_phenoty0.66102521
96MP0004924_abnormal_behavior0.66102521
97MP0002693_abnormal_pancreas_physiology0.64027828
98MP0009745_abnormal_behavioral_response0.63845595
99MP0001529_abnormal_vocalization0.62611550
100MP0004085_abnormal_heartbeat0.62389881

Predicted human phenotypes

RankGene SetZ-score
1Calf muscle hypertrophy (HP:0008981)6.26157188
2Muscle hypertrophy of the lower extremities (HP:0008968)5.45434254
3Exercise-induced muscle cramps (HP:0003710)5.10542262
4Renal cortical cysts (HP:0000803)4.99395027
5Subaortic stenosis (HP:0001682)4.41909276
6Abnormality of the left ventricular outflow tract (HP:0011103)4.41909276
7Exercise-induced myalgia (HP:0003738)4.29070160
8Abnormality of the renal cortex (HP:0011035)4.09792537
9Tubulointerstitial nephritis (HP:0001970)3.61541450
10Hypoplasia of the thymus (HP:0000778)3.39855531
11Pancreatic cysts (HP:0001737)3.37608630
12Medial flaring of the eyebrow (HP:0010747)3.37001361
13Brushfield spots (HP:0001088)2.97883779
14Pancreatic fibrosis (HP:0100732)2.97307314
15Attenuation of retinal blood vessels (HP:0007843)2.96897336
16Gaze-evoked nystagmus (HP:0000640)2.83504438
17Abnormality of the renal collecting system (HP:0004742)2.80583246
18Prolonged QT interval (HP:0001657)2.70327992
19Bony spicule pigmentary retinopathy (HP:0007737)2.69337084
20Abnormality of the calf musculature (HP:0001430)2.68340099
21Abolished electroretinogram (ERG) (HP:0000550)2.62320365
22Asymmetric septal hypertrophy (HP:0001670)2.60796896
23Chronic hepatic failure (HP:0100626)2.59398812
24Abnormal biliary tract physiology (HP:0012439)2.57239064
25Bile duct proliferation (HP:0001408)2.57239064
26Absent rod-and cone-mediated responses on ERG (HP:0007688)2.56801003
27Ketosis (HP:0001946)2.53366819
28True hermaphroditism (HP:0010459)2.53105431
29Sudden death (HP:0001699)2.52007426
30Nephronophthisis (HP:0000090)2.51717968
31Hyperventilation (HP:0002883)2.47820161
32Muscle stiffness (HP:0003552)2.42832849
33Myotonia (HP:0002486)2.42302415
34Abnormality of the renal medulla (HP:0100957)2.40019585
35Congenital primary aphakia (HP:0007707)2.35427655
36Keratoconus (HP:0000563)2.27099333
37Increased corneal curvature (HP:0100692)2.27099333
38Short 1st metacarpal (HP:0010034)2.20680663
39Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.20680663
40Abnormal rod and cone electroretinograms (HP:0008323)2.20056657
41Abnormal drinking behavior (HP:0030082)2.19877216
42Polydipsia (HP:0001959)2.19877216
43Gait imbalance (HP:0002141)2.18844128
44Nephrogenic diabetes insipidus (HP:0009806)2.18378476
45Constricted visual fields (HP:0001133)2.15894779
46Widely spaced teeth (HP:0000687)2.09832558
47Poor coordination (HP:0002370)2.08327158
48Clitoromegaly (HP:0000057)2.07006672
49Molar tooth sign on MRI (HP:0002419)2.06410231
50Abnormality of midbrain morphology (HP:0002418)2.06410231
51Palpebral edema (HP:0100540)2.05450475
52Tubulointerstitial abnormality (HP:0001969)2.04968152
53Congenital hepatic fibrosis (HP:0002612)2.04168699
54Abnormal biliary tract morphology (HP:0012440)2.03437771
55Duplicated collecting system (HP:0000081)2.01243931
56Neoplasm of the adrenal cortex (HP:0100641)1.95113767
57Cystic liver disease (HP:0006706)1.94989526
58Cerebral edema (HP:0002181)1.94960603
59Gowers sign (HP:0003391)1.93392579
60Abnormality of the intrinsic pathway (HP:0010989)1.93351753
61Colon cancer (HP:0003003)1.90320035
62Enlarged kidneys (HP:0000105)1.88208119
63Congenital stationary night blindness (HP:0007642)1.87419048
64Small hand (HP:0200055)1.86450995
65Central scotoma (HP:0000603)1.86269359
66Left ventricular hypertrophy (HP:0001712)1.85944498
67Abnormality of the 1st metacarpal (HP:0010009)1.84920143
68Hepatic necrosis (HP:0002605)1.82293368
69Congenital sensorineural hearing impairment (HP:0008527)1.82267073
70Ketoacidosis (HP:0001993)1.81690591
71Large for gestational age (HP:0001520)1.80866677
72Hyperglycinuria (HP:0003108)1.80700151
73Inability to walk (HP:0002540)1.79477811
74Fair hair (HP:0002286)1.73188485
75Hepatocellular necrosis (HP:0001404)1.73064518
76Hyperinsulinemic hypoglycemia (HP:0000825)1.72554650
77Absent/shortened dynein arms (HP:0200106)1.72147572
78Dynein arm defect of respiratory motile cilia (HP:0012255)1.72147572
79Mitochondrial inheritance (HP:0001427)1.72069941
80Ependymoma (HP:0002888)1.71535437
81Genital tract atresia (HP:0001827)1.69897623
82Abnormality of the astrocytes (HP:0100707)1.69784556
83Astrocytoma (HP:0009592)1.69784556
84Increased CSF lactate (HP:0002490)1.67581974
85Gonadotropin excess (HP:0000837)1.67574502
86Poor suck (HP:0002033)1.67449463
87Hypothermia (HP:0002045)1.66985228
88Abnormal protein glycosylation (HP:0012346)1.66940759
89Abnormal glycosylation (HP:0012345)1.66940759
90Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.66940759
91Abnormal protein N-linked glycosylation (HP:0012347)1.66940759
92Hypoglycemic coma (HP:0001325)1.65840605
93Hyperglycinemia (HP:0002154)1.65655329
94Tubular atrophy (HP:0000092)1.64376735
95Vaginal atresia (HP:0000148)1.63892992
96Abnormal EKG (HP:0003115)1.63694616
97Decreased central vision (HP:0007663)1.63497188
98Type 2 muscle fiber atrophy (HP:0003554)1.62657378
99Cupped ear (HP:0000378)1.62512977
100Chromsome breakage (HP:0040012)1.62032196

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.84881632
2BCKDK4.78012347
3EIF2AK33.80047039
4MAPKAPK53.38716008
5BMPR1B2.90700844
6CCNB12.71358305
7MUSK2.60574780
8ACVR1B2.55084648
9CDK82.32156777
10PIK3CG2.31765817
11PINK12.25860688
12INSRR2.05547179
13NUAK12.03590776
14WNK31.87158721
15MAP4K21.86158141
16AKT31.75151650
17ZAK1.64592689
18STK38L1.54081419
19FLT31.44447050
20MELK1.41460815
21TNIK1.28583047
22STK391.21221687
23MAPK131.19041206
24BRSK21.13332208
25GRK11.11808501
26VRK11.10475378
27MAP3K41.05066266
28ADRBK21.04658676
29TEC1.02650332
30STK31.00777519
31MAP3K70.99258997
32WNK40.97884302
33TGFBR10.94886002
34OXSR10.89000961
35NLK0.88718697
36ERBB30.87877639
37OBSCN0.85823138
38DMPK0.83403002
39TNK20.82611613
40FER0.81450145
41CASK0.78850132
42TAOK30.78447140
43EPHA40.77426879
44BUB10.77350713
45WEE10.76991906
46LATS10.76317793
47PNCK0.74263717
48CSNK1A1L0.72738276
49PRKCE0.71602592
50MKNK20.71555199
51EIF2AK20.68608658
52CSNK1G10.67122218
53MAP2K70.66251068
54PRKCG0.66099257
55SGK20.65375245
56CSNK1G20.65218034
57CDC70.65096996
58ATR0.64383865
59CDK90.62858245
60TLK10.60127373
61KIT0.59962745
62MKNK10.59734207
63CDK30.59559094
64TRIM280.59269363
65CSNK1D0.58575696
66MST40.57381547
67PRKACB0.56758276
68VRK20.56187570
69CSNK1G30.50798601
70PTK2B0.50415330
71PLK20.49102974
72PLK30.48718220
73ABL10.48414849
74PBK0.48338255
75ATM0.47968740
76MAPKAPK30.46413210
77RPS6KA50.45710034
78RPS6KA40.44824353
79FGFR20.43265440
80SCYL20.42993188
81TRPM70.42478542
82TAF10.42427823
83PLK40.42319953
84PIK3CA0.38733943
85PAK30.38431064
86CHEK20.37707872
87STK40.33782187
88ADRBK10.32342824
89PLK10.31228936
90MARK30.31135018
91FGFR10.30518508
92PRKAA20.29040211
93PKN10.28758566
94PIM10.28628922
95CSNK1A10.25942035
96EPHA30.25455147
97SRPK10.24460141
98DAPK20.24254428
99PRKACA0.23774736
100PKN20.22214790

Predicted pathways (KEGG)

RankGene SetZ-score
1Propanoate metabolism_Homo sapiens_hsa006403.48925644
2Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.37501526
3Selenocompound metabolism_Homo sapiens_hsa004502.67851101
4Non-homologous end-joining_Homo sapiens_hsa034502.60862861
5Homologous recombination_Homo sapiens_hsa034402.52310834
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.29335356
7Fanconi anemia pathway_Homo sapiens_hsa034602.27416333
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.12725185
9Tryptophan metabolism_Homo sapiens_hsa003802.08154947
10Butanoate metabolism_Homo sapiens_hsa006501.98370351
11Protein export_Homo sapiens_hsa030601.96932055
12ABC transporters_Homo sapiens_hsa020101.88440781
13Maturity onset diabetes of the young_Homo sapiens_hsa049501.87096193
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.83424663
15beta-Alanine metabolism_Homo sapiens_hsa004101.75649287
16Cysteine and methionine metabolism_Homo sapiens_hsa002701.73379316
17Pentose and glucuronate interconversions_Homo sapiens_hsa000401.68755149
18Pyruvate metabolism_Homo sapiens_hsa006201.68602929
19RNA degradation_Homo sapiens_hsa030181.61491314
20Mismatch repair_Homo sapiens_hsa034301.61405042
21Peroxisome_Homo sapiens_hsa041461.60462312
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.56531652
23Regulation of autophagy_Homo sapiens_hsa041401.55148638
24Lysine degradation_Homo sapiens_hsa003101.51256961
25Basal transcription factors_Homo sapiens_hsa030221.48283256
26Primary bile acid biosynthesis_Homo sapiens_hsa001201.47242708
27Histidine metabolism_Homo sapiens_hsa003401.46766057
28Sulfur relay system_Homo sapiens_hsa041221.46708814
29Nitrogen metabolism_Homo sapiens_hsa009101.46641831
30Steroid hormone biosynthesis_Homo sapiens_hsa001401.43676793
31Retinol metabolism_Homo sapiens_hsa008301.39454041
32RNA polymerase_Homo sapiens_hsa030201.37197815
33One carbon pool by folate_Homo sapiens_hsa006701.26391859
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.25128710
35Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.24890778
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.24495761
37Linoleic acid metabolism_Homo sapiens_hsa005911.23418675
38Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.21164957
39Phototransduction_Homo sapiens_hsa047441.20194569
40Olfactory transduction_Homo sapiens_hsa047401.16552235
41Taste transduction_Homo sapiens_hsa047421.10413915
42Nucleotide excision repair_Homo sapiens_hsa034201.03530157
43Oxidative phosphorylation_Homo sapiens_hsa001901.01572298
44Circadian rhythm_Homo sapiens_hsa047101.00747508
45Folate biosynthesis_Homo sapiens_hsa007901.00214389
46Serotonergic synapse_Homo sapiens_hsa047260.98372791
47DNA replication_Homo sapiens_hsa030300.97685841
48Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.93170837
49Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.93090193
50Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.91802785
51Base excision repair_Homo sapiens_hsa034100.89792483
52Caffeine metabolism_Homo sapiens_hsa002320.89571377
53Chemical carcinogenesis_Homo sapiens_hsa052040.88877614
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.86822274
55TGF-beta signaling pathway_Homo sapiens_hsa043500.86481840
56Fatty acid degradation_Homo sapiens_hsa000710.86340590
57RNA transport_Homo sapiens_hsa030130.84040600
58Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.82627821
59Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.82179940
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.80292452
61Purine metabolism_Homo sapiens_hsa002300.80034818
62alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.79685037
63Calcium signaling pathway_Homo sapiens_hsa040200.77059729
64Nicotine addiction_Homo sapiens_hsa050330.76344277
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.75933297
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.75643121
67Oocyte meiosis_Homo sapiens_hsa041140.74950986
68Parkinsons disease_Homo sapiens_hsa050120.74294735
69Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.73193335
70Cell cycle_Homo sapiens_hsa041100.73164366
71Ether lipid metabolism_Homo sapiens_hsa005650.68924085
72Metabolic pathways_Homo sapiens_hsa011000.68343384
73Glycerolipid metabolism_Homo sapiens_hsa005610.66301488
74Salivary secretion_Homo sapiens_hsa049700.64871368
75Pyrimidine metabolism_Homo sapiens_hsa002400.63590770
76Systemic lupus erythematosus_Homo sapiens_hsa053220.62515367
77Circadian entrainment_Homo sapiens_hsa047130.61629183
78Insulin secretion_Homo sapiens_hsa049110.61578492
79Huntingtons disease_Homo sapiens_hsa050160.60566919
80Arginine and proline metabolism_Homo sapiens_hsa003300.59136877
81Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.58246322
82Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.57908407
83Ovarian steroidogenesis_Homo sapiens_hsa049130.57872049
84Renin secretion_Homo sapiens_hsa049240.57356982
85Cardiac muscle contraction_Homo sapiens_hsa042600.55556330
86SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55436688
87Morphine addiction_Homo sapiens_hsa050320.52940342
88N-Glycan biosynthesis_Homo sapiens_hsa005100.52606387
89Transcriptional misregulation in cancer_Homo sapiens_hsa052020.51646225
90Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49180854
91Starch and sucrose metabolism_Homo sapiens_hsa005000.46856541
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.46728414
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41313077
94Glutamatergic synapse_Homo sapiens_hsa047240.40797870
95Alzheimers disease_Homo sapiens_hsa050100.40211965
96Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.39043962
97GABAergic synapse_Homo sapiens_hsa047270.37364519
98Phosphatidylinositol signaling system_Homo sapiens_hsa040700.36898030
99Renin-angiotensin system_Homo sapiens_hsa046140.35163729
100p53 signaling pathway_Homo sapiens_hsa041150.34731035

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