TOP3BP1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)7.21318808
2auditory receptor cell differentiation (GO:0042491)6.61125128
3protein neddylation (GO:0045116)5.55471267
4fucose catabolic process (GO:0019317)5.53472488
5L-fucose metabolic process (GO:0042354)5.53472488
6L-fucose catabolic process (GO:0042355)5.53472488
7neuron fate determination (GO:0048664)5.20805623
8axon ensheathment in central nervous system (GO:0032291)4.96335328
9central nervous system myelination (GO:0022010)4.96335328
10chaperone-mediated protein transport (GO:0072321)4.83582916
11ribosomal small subunit biogenesis (GO:0042274)4.69069721
12negative regulation of astrocyte differentiation (GO:0048712)4.58730793
13positive regulation of megakaryocyte differentiation (GO:0045654)4.57861845
14viral transcription (GO:0019083)4.54302263
15translational termination (GO:0006415)4.36822014
16radial glial cell differentiation (GO:0060019)4.00531601
17maturation of SSU-rRNA (GO:0030490)4.00431257
18pattern specification involved in kidney development (GO:0061004)3.91638561
19chaperone-mediated protein complex assembly (GO:0051131)3.87311001
20inner ear receptor cell differentiation (GO:0060113)3.80770314
21neurotransmitter catabolic process (GO:0042135)3.78491811
22positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.78076943
23ribosomal small subunit assembly (GO:0000028)3.72019992
24neurotransmitter-gated ion channel clustering (GO:0072578)3.69356647
25epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.66047618
26translational elongation (GO:0006414)3.66043691
27SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.63549548
28nephron tubule morphogenesis (GO:0072078)3.62565963
29nephron epithelium morphogenesis (GO:0072088)3.62565963
30spinal cord motor neuron differentiation (GO:0021522)3.60958743
31cotranslational protein targeting to membrane (GO:0006613)3.58719482
32protein targeting to ER (GO:0045047)3.56103562
33purine nucleotide salvage (GO:0032261)3.54356724
34seminiferous tubule development (GO:0072520)3.52562367
35positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.48705266
36ncRNA 3-end processing (GO:0043628)3.46758128
37regulation of action potential (GO:0098900)3.45096225
38hair cell differentiation (GO:0035315)3.44136173
39establishment of protein localization to endoplasmic reticulum (GO:0072599)3.41662565
40viral life cycle (GO:0019058)3.41297266
41substrate-independent telencephalic tangential migration (GO:0021826)3.41061365
42substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.41061365
43protein localization to endoplasmic reticulum (GO:0070972)3.39433708
44fucose metabolic process (GO:0006004)3.39263019
45positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.32203843
46GMP metabolic process (GO:0046037)3.31570680
47synaptic transmission, cholinergic (GO:0007271)3.30854642
48mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.30162244
49tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.29899805
50RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.29899805
51positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.29589210
52negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)3.29475757
53telencephalon development (GO:0021537)3.28460122
54cellular protein complex disassembly (GO:0043624)3.28364919
55adult walking behavior (GO:0007628)3.25132413
56cell proliferation in forebrain (GO:0021846)3.23084390
57tongue development (GO:0043586)3.14322290
58positive regulation of gastrulation (GO:2000543)3.12636450
59cell differentiation in spinal cord (GO:0021515)3.09763371
60negative regulation of oligodendrocyte differentiation (GO:0048715)3.03203290
61regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.01563992
62auditory behavior (GO:0031223)2.99667169
63ribosomal large subunit biogenesis (GO:0042273)2.99249173
64astrocyte differentiation (GO:0048708)2.97798190
65positive regulation of sodium ion transmembrane transport (GO:1902307)2.97334246
66uterus development (GO:0060065)2.96386989
67N-glycan processing (GO:0006491)2.95570735
68negative regulation of glial cell differentiation (GO:0045686)2.93604522
69energy coupled proton transport, down electrochemical gradient (GO:0015985)2.92421868
70ATP synthesis coupled proton transport (GO:0015986)2.92421868
71negative regulation of transcription regulatory region DNA binding (GO:2000678)2.91642620
72regulation of cilium movement (GO:0003352)2.91631179
73nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.91451848
74fucosylation (GO:0036065)2.85951080
75mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.85698033
76regulation of Rac protein signal transduction (GO:0035020)2.82581007
77axoneme assembly (GO:0035082)2.82119513
78short-term memory (GO:0007614)2.79320033
79translational initiation (GO:0006413)2.78583092
80purine nucleobase biosynthetic process (GO:0009113)2.78247978
81regulation of astrocyte differentiation (GO:0048710)2.78161484
82DNA replication checkpoint (GO:0000076)2.77138749
83water-soluble vitamin biosynthetic process (GO:0042364)2.75050950
84replication fork processing (GO:0031297)2.75038083
85mechanosensory behavior (GO:0007638)2.75019824
86specification of organ identity (GO:0010092)2.73314348
87positive regulation of action potential (GO:0045760)2.72626049
88presynaptic membrane organization (GO:0097090)2.72218190
89epithelial cilium movement (GO:0003351)2.70255039
90presynaptic membrane assembly (GO:0097105)2.70080203
91behavioral response to ethanol (GO:0048149)2.69728843
92purine-containing compound salvage (GO:0043101)2.69411602
93retinal cone cell development (GO:0046549)2.69089158
94protein complex disassembly (GO:0043241)2.69004843
95heart field specification (GO:0003128)2.68507338
96secondary heart field specification (GO:0003139)2.68507338
97postsynaptic membrane organization (GO:0001941)2.67574522
98neuronal action potential propagation (GO:0019227)2.64752987
99regulation of acyl-CoA biosynthetic process (GO:0050812)2.63766329
100regulation of nuclear cell cycle DNA replication (GO:0033262)2.62333150

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.95125946
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.41983330
3EZH2_22144423_ChIP-Seq_EOC_Human5.18251730
4NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.07044571
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.85781445
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.52309302
7VDR_22108803_ChIP-Seq_LS180_Human2.44650081
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.30065606
9GABP_17652178_ChIP-ChIP_JURKAT_Human2.29323490
10RBPJ_22232070_ChIP-Seq_NCS_Mouse2.24245204
11JARID2_20064375_ChIP-Seq_MESCs_Mouse2.20199307
12ETS1_20019798_ChIP-Seq_JURKAT_Human1.97285237
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.97153775
14BMI1_23680149_ChIP-Seq_NPCS_Mouse1.95615925
15REST_21632747_ChIP-Seq_MESCs_Mouse1.92446110
16EED_16625203_ChIP-ChIP_MESCs_Mouse1.92394284
17RNF2_27304074_Chip-Seq_NSC_Mouse1.73793154
18EST1_17652178_ChIP-ChIP_JURKAT_Human1.70990477
19CBX2_27304074_Chip-Seq_ESCs_Mouse1.68553788
20JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.67815256
21RNF2_18974828_ChIP-Seq_MESCs_Mouse1.67478241
22EZH2_18974828_ChIP-Seq_MESCs_Mouse1.67478241
23REST_18959480_ChIP-ChIP_MESCs_Mouse1.67281617
24SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.63706778
25BCAT_22108803_ChIP-Seq_LS180_Human1.62735484
26JARID2_20075857_ChIP-Seq_MESCs_Mouse1.62544176
27SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.47514698
28SUZ12_27294783_Chip-Seq_ESCs_Mouse1.44909818
29EZH2_27294783_Chip-Seq_ESCs_Mouse1.43070316
30IGF1R_20145208_ChIP-Seq_DFB_Human1.42330897
31POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.36375304
32TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36375304
33PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.34210147
34MYC_18940864_ChIP-ChIP_HL60_Human1.33755278
35GATA1_26923725_Chip-Seq_HPCs_Mouse1.33696769
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.29734690
37GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.29620321
38MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.29519951
39CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.29442849
40SOX2_18555785_ChIP-Seq_MESCs_Mouse1.28286057
41CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.26847742
42EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.26790408
43CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.26671089
44TP63_19390658_ChIP-ChIP_HaCaT_Human1.26495961
45KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.25194361
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.25169381
47XRN2_22483619_ChIP-Seq_HELA_Human1.24628589
48MYC_18555785_ChIP-Seq_MESCs_Mouse1.23730033
49RNF2_27304074_Chip-Seq_ESCs_Mouse1.22999127
50TP53_20018659_ChIP-ChIP_R1E_Mouse1.22183011
51TTF2_22483619_ChIP-Seq_HELA_Human1.22044296
52SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.21993994
53SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.21899067
54ZNF274_21170338_ChIP-Seq_K562_Hela1.18997598
55GBX2_23144817_ChIP-Seq_PC3_Human1.17637348
56VDR_23849224_ChIP-Seq_CD4+_Human1.16369738
57FUS_26573619_Chip-Seq_HEK293_Human1.13605110
58YY1_22570637_ChIP-Seq_MALME-3M_Human1.13402147
59POU5F1_16153702_ChIP-ChIP_HESCs_Human1.12504142
60CREB1_15753290_ChIP-ChIP_HEK293T_Human1.11000359
61IKZF1_21737484_ChIP-ChIP_HCT116_Human1.10671121
62FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.10464709
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10451235
64P300_19829295_ChIP-Seq_ESCs_Human1.09128642
65CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.09060554
66EWS_26573619_Chip-Seq_HEK293_Human1.08449310
67GABP_19822575_ChIP-Seq_HepG2_Human1.08247908
68CTBP1_25329375_ChIP-Seq_LNCAP_Human1.05370555
69ELK1_19687146_ChIP-ChIP_HELA_Human1.04475417
70TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03574649
71SRF_21415370_ChIP-Seq_HL-1_Mouse1.02588591
72RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.02056727
73CTCF_27219007_Chip-Seq_Bcells_Human1.00715407
74PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.00076594
75YY1_21170310_ChIP-Seq_MESCs_Mouse0.99839555
76BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.99382295
77RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.98915349
78TCF4_22108803_ChIP-Seq_LS180_Human0.95402658
79CIITA_25753668_ChIP-Seq_RAJI_Human0.94529205
80NANOG_20526341_ChIP-Seq_ESCs_Human0.92478411
81TP53_22573176_ChIP-Seq_HFKS_Human0.91501203
82OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89810189
83GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.88659842
84SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88058813
85HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.87565026
86RING1B_27294783_Chip-Seq_ESCs_Mouse0.87062535
87SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.86519929
88WDR5_24793694_ChIP-Seq_LNCAP_Human0.85402195
89KLF5_20875108_ChIP-Seq_MESCs_Mouse0.85200586
90SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.85118316
91FOXP3_21729870_ChIP-Seq_TREG_Human0.83628717
92CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.82873436
93FOXP1_21924763_ChIP-Seq_HESCs_Human0.82356861
94MYC_18358816_ChIP-ChIP_MESCs_Mouse0.81811929
95CTBP2_25329375_ChIP-Seq_LNCAP_Human0.81322470
96SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.81054671
97NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.80932127
98P53_22127205_ChIP-Seq_FIBROBLAST_Human0.80899074
99MYC_19829295_ChIP-Seq_ESCs_Human0.79285932
100MTF2_20144788_ChIP-Seq_MESCs_Mouse0.79277306

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode5.53612960
2MP0003787_abnormal_imprinting4.85038380
3MP0003123_paternal_imprinting3.98060218
4MP0009379_abnormal_foot_pigmentation3.09530290
5MP0003890_abnormal_embryonic-extraembry3.03325542
6MP0005394_taste/olfaction_phenotype2.95340802
7MP0005499_abnormal_olfactory_system2.95340802
8MP0008789_abnormal_olfactory_epithelium2.78918700
9MP0002163_abnormal_gland_morphology2.69796965
10MP0009053_abnormal_anal_canal2.32499879
11MP0003121_genomic_imprinting2.32176635
12MP0001293_anophthalmia2.11619472
13MP0002638_abnormal_pupillary_reflex2.06140260
14MP0000049_abnormal_middle_ear2.01828114
15MP0000778_abnormal_nervous_system1.99773956
16MP0002938_white_spotting1.99612893
17MP0002837_dystrophic_cardiac_calcinosis1.85900279
18MP0001529_abnormal_vocalization1.83193228
19MP0001968_abnormal_touch/_nociception1.79524549
20MP0003880_abnormal_central_pattern1.75767198
21MP0002653_abnormal_ependyma_morphology1.73505548
22MP0003119_abnormal_digestive_system1.61412427
23MP0000631_abnormal_neuroendocrine_gland1.53307182
24MP0002734_abnormal_mechanical_nocicepti1.51435905
25MP0006276_abnormal_autonomic_nervous1.49104091
26MP0005551_abnormal_eye_electrophysiolog1.45204019
27MP0002735_abnormal_chemical_nociception1.43747502
28MP0005379_endocrine/exocrine_gland_phen1.42665797
29MP0002822_catalepsy1.38911279
30MP0002249_abnormal_larynx_morphology1.37773087
31MP0003879_abnormal_hair_cell1.37189060
32MP0005195_abnormal_posterior_eye1.37127863
33MP0010030_abnormal_orbit_morphology1.37029831
34MP0003136_yellow_coat_color1.32849477
35MP0003646_muscle_fatigue1.31427150
36MP0003122_maternal_imprinting1.31181288
37MP0000372_irregular_coat_pigmentation1.27699922
38MP0002272_abnormal_nervous_system1.27500596
39MP0005423_abnormal_somatic_nervous1.25613477
40MP0002736_abnormal_nociception_after1.25074179
41MP0000026_abnormal_inner_ear1.24655920
42MP0001485_abnormal_pinna_reflex1.24528286
43MP0002234_abnormal_pharynx_morphology1.23745291
44MP0001286_abnormal_eye_development1.20873290
45MP0002102_abnormal_ear_morphology1.19538280
46MP0000566_synostosis1.18083268
47MP0003942_abnormal_urinary_system1.17679905
48MP0002752_abnormal_somatic_nervous1.16987115
49MP0002184_abnormal_innervation1.16534416
50MP0001919_abnormal_reproductive_system1.14599443
51MP0004142_abnormal_muscle_tone1.13624589
52MP0005646_abnormal_pituitary_gland1.11480849
53MP0002909_abnormal_adrenal_gland1.06485031
54MP0006072_abnormal_retinal_apoptosis1.06243079
55MP0004185_abnormal_adipocyte_glucose1.05420111
56MP0005389_reproductive_system_phenotype1.05145804
57MP0001963_abnormal_hearing_physiology1.00011489
58MP0003937_abnormal_limbs/digits/tail_de0.99360865
59MP0002876_abnormal_thyroid_physiology0.97972255
60MP0002751_abnormal_autonomic_nervous0.94926216
61MP0008877_abnormal_DNA_methylation0.94708742
62MP0002557_abnormal_social/conspecific_i0.94312527
63MP0004133_heterotaxia0.93457205
64MP0001970_abnormal_pain_threshold0.91936858
65MP0000427_abnormal_hair_cycle0.91848667
66MP0002882_abnormal_neuron_morphology0.91713356
67MP0001984_abnormal_olfaction0.91096989
68MP0002092_abnormal_eye_morphology0.90955729
69MP0000579_abnormal_nail_morphology0.90693264
70MP0003635_abnormal_synaptic_transmissio0.90138550
71MP0009250_abnormal_appendicular_skeleto0.89629902
72MP0003938_abnormal_ear_development0.89356813
73MP0008995_early_reproductive_senescence0.87457018
74MP0001986_abnormal_taste_sensitivity0.87393100
75MP0000955_abnormal_spinal_cord0.86299697
76MP0003011_delayed_dark_adaptation0.83293113
77MP0003755_abnormal_palate_morphology0.81966964
78MP0002152_abnormal_brain_morphology0.81827084
79MP0005391_vision/eye_phenotype0.80875653
80MP0003693_abnormal_embryo_hatching0.80705819
81MP0001756_abnormal_urination0.80086817
82MP0003385_abnormal_body_wall0.79372264
83MP0002160_abnormal_reproductive_system0.78697675
84MP0001324_abnormal_eye_pigmentation0.78202697
85MP0004924_abnormal_behavior0.77908915
86MP0005386_behavior/neurological_phenoty0.77908915
87MP0009745_abnormal_behavioral_response0.77812478
88MP0002095_abnormal_skin_pigmentation0.76976958
89MP0008004_abnormal_stomach_pH0.74444636
90MP0002233_abnormal_nose_morphology0.73943637
91MP0002572_abnormal_emotion/affect_behav0.72810998
92MP0002733_abnormal_thermal_nociception0.71928374
93MP0001188_hyperpigmentation0.70717376
94MP0003861_abnormal_nervous_system0.70016565
95MP0002229_neurodegeneration0.69531520
96MP0002063_abnormal_learning/memory/cond0.69433567
97MP0003195_calcinosis0.68852821
98MP0002697_abnormal_eye_size0.68617636
99MP0002064_seizures0.66641905
100MP0002067_abnormal_sensory_capabilities0.64851029

Predicted human phenotypes

RankGene SetZ-score
1Severe visual impairment (HP:0001141)3.86355833
2Myelomeningocele (HP:0002475)3.63485978
3Nephronophthisis (HP:0000090)3.56455803
4Pancreatic fibrosis (HP:0100732)3.53336488
5Adrenal hypoplasia (HP:0000835)3.38810173
6Hepatoblastoma (HP:0002884)3.36130586
7Rib fusion (HP:0000902)3.30838135
8Diastasis recti (HP:0001540)3.27273096
9Enlarged kidneys (HP:0000105)3.24424875
10Abnormality of midbrain morphology (HP:0002418)3.17740333
11Molar tooth sign on MRI (HP:0002419)3.17740333
12Pancreatic cysts (HP:0001737)3.14317226
13Concave nail (HP:0001598)3.06903454
14Abnormality of cells of the erythroid lineage (HP:0012130)3.02827630
15Disproportionate short-trunk short stature (HP:0003521)3.01379518
16Hyperventilation (HP:0002883)2.97761534
17Reticulocytopenia (HP:0001896)2.92766889
18Neoplasm of the adrenal cortex (HP:0100641)2.90535331
19Cystic liver disease (HP:0006706)2.84126754
20Porencephaly (HP:0002132)2.80623219
21Microretrognathia (HP:0000308)2.79680546
22Meningocele (HP:0002435)2.79430934
23Abnormal number of erythroid precursors (HP:0012131)2.66976957
24Facial hemangioma (HP:0000329)2.63632314
25Deep palmar crease (HP:0006191)2.60322760
26Abdominal situs inversus (HP:0003363)2.58583090
27Abnormality of abdominal situs (HP:0011620)2.58583090
28Abnormal pancreas size (HP:0012094)2.57930737
29Drooling (HP:0002307)2.56028276
30Abnormality of the aortic arch (HP:0012303)2.51073944
31Congenital hepatic fibrosis (HP:0002612)2.50217922
32Abnormality of the renal medulla (HP:0100957)2.49648441
33Bifid tongue (HP:0010297)2.47582945
34Posterior subcapsular cataract (HP:0007787)2.47473284
35True hermaphroditism (HP:0010459)2.47072573
36Acute necrotizing encephalopathy (HP:0006965)2.42846857
37Acute encephalopathy (HP:0006846)2.42230502
38Median cleft lip (HP:0000161)2.41493576
39Type II lissencephaly (HP:0007260)2.40578904
40Broad alveolar ridges (HP:0000187)2.39753119
41Mitochondrial inheritance (HP:0001427)2.39639542
42Aplasia/Hypoplasia of the spleen (HP:0010451)2.38818809
43Asplenia (HP:0001746)2.37386923
44Broad-based gait (HP:0002136)2.36143587
45Septo-optic dysplasia (HP:0100842)2.35380404
46Excessive salivation (HP:0003781)2.35168803
47Horseshoe kidney (HP:0000085)2.32947073
48Cortical dysplasia (HP:0002539)2.31806912
49Macrocytic anemia (HP:0001972)2.31787779
50Abnormal number of incisors (HP:0011064)2.30139852
51Preaxial hand polydactyly (HP:0001177)2.28977344
52Abnormal mitochondria in muscle tissue (HP:0008316)2.19576212
53Dynein arm defect of respiratory motile cilia (HP:0012255)2.16186047
54Absent/shortened dynein arms (HP:0200106)2.16186047
55Abnormality of alanine metabolism (HP:0010916)2.13485494
56Hyperalaninemia (HP:0003348)2.13485494
57Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.13485494
58Hyperglycinemia (HP:0002154)2.10876333
59Increased CSF lactate (HP:0002490)2.08603194
60Poor suck (HP:0002033)2.07800660
61Narrow forehead (HP:0000341)2.07422413
62Sclerocornea (HP:0000647)2.02776004
63Tubular atrophy (HP:0000092)2.02522182
64Abnormal rod and cone electroretinograms (HP:0008323)2.00507470
65Neonatal hypoglycemia (HP:0001998)1.99574727
66Hepatocellular necrosis (HP:0001404)1.99286846
67Abnormal drinking behavior (HP:0030082)1.99027233
68Polydipsia (HP:0001959)1.99027233
69Aplasia/Hypoplasia of the tongue (HP:0010295)1.98666972
70Medial flaring of the eyebrow (HP:0010747)1.97257128
71Aplasia/Hypoplasia of the sacrum (HP:0008517)1.96606313
72Increased number of teeth (HP:0011069)1.96308070
73Dandy-Walker malformation (HP:0001305)1.94630796
74Macroglossia (HP:0000158)1.94096559
75Protruding tongue (HP:0010808)1.93530221
76Broad distal phalanx of finger (HP:0009836)1.93241557
773-Methylglutaconic aciduria (HP:0003535)1.90862255
78Cerebellar dysplasia (HP:0007033)1.90475275
79Anencephaly (HP:0002323)1.89333829
80Amblyopia (HP:0000646)1.87710781
81Postaxial foot polydactyly (HP:0001830)1.84594116
82Renal hypoplasia (HP:0000089)1.84532447
83Severe muscular hypotonia (HP:0006829)1.83328562
84Anophthalmia (HP:0000528)1.82814220
85Pendular nystagmus (HP:0012043)1.82443713
86Pachygyria (HP:0001302)1.79088708
87Depressed nasal ridge (HP:0000457)1.78554584
88Growth hormone deficiency (HP:0000824)1.77953201
89Neoplasm of the adrenal gland (HP:0100631)1.77475449
90Volvulus (HP:0002580)1.76851996
91Aplasia/Hypoplasia of the brainstem (HP:0007362)1.75883986
92Hypoplasia of the brainstem (HP:0002365)1.75883986
93Progressive macrocephaly (HP:0004481)1.75354922
94Absent thumb (HP:0009777)1.73500307
95Hepatic necrosis (HP:0002605)1.73117628
96Embryonal renal neoplasm (HP:0011794)1.72510041
97Cerebral edema (HP:0002181)1.71533603
98Optic nerve coloboma (HP:0000588)1.70946247
99Ectopic kidney (HP:0000086)1.69864957
100Missing ribs (HP:0000921)1.69752635

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.50390083
2BMPR1B4.09458685
3WNK43.74514099
4ACVR1B3.49192415
5WNK32.96440847
6PDK22.71884514
7TNIK2.38063969
8TLK12.16318184
9NTRK22.15670912
10BRAF2.13813843
11PLK41.93387240
12BCKDK1.84243058
13NME21.75217755
14MAP3K111.70383518
15DYRK21.70135372
16BRSK11.68227319
17MKNK21.68030122
18CAMKK21.61605858
19LRRK21.52020780
20CAMKK11.51532657
21SGK4941.50727213
22SGK2231.50727213
23TGFBR11.49458714
24TYRO31.47941429
25MAP4K21.44813617
26ABL21.37252856
27EPHB21.29146595
28SGK21.26664124
29CDK191.26371223
30PRKCG1.22529076
31MAPK131.18028839
32STK391.15551572
33BUB11.15399825
34GRK11.15166414
35FRK1.06624075
36BRSK21.03789281
37ZAK0.99615338
38PRKD30.99211839
39OXSR10.98852761
40WNK10.97577666
41KSR10.95794847
42MKNK10.93133750
43NME10.90845158
44IRAK20.90309618
45PLK10.85628557
46ADRBK20.82971779
47MARK10.80579317
48ADRBK10.79425812
49MARK30.76031151
50PRKCH0.74848928
51MAP2K70.74277091
52CDC70.70174601
53FLT30.69935992
54NUAK10.67069567
55STK160.66978565
56MAP3K40.66173500
57PRKCQ0.65539298
58AURKA0.65348137
59RPS6KA40.64444996
60PASK0.63353055
61RPS6KA20.62544238
62STK38L0.60505824
63LIMK10.59245613
64PRKCI0.58543006
65PINK10.57332484
66CSNK2A20.55565774
67STK110.55531382
68PRKACA0.52809826
69STK100.52282145
70DYRK30.52135866
71MAP2K20.52060505
72CSNK1E0.51900192
73SGK30.51874533
74PRKCZ0.51738520
75DAPK20.49631854
76MAP3K80.47884016
77MAPKAPK30.47607703
78PAK30.47351653
79ICK0.47236293
80CSF1R0.40984164
81CSNK2A10.40917886
82RPS6KA60.40058490
83CCNB10.37113317
84CAMK10.36198017
85GRK70.35923283
86CAMK1D0.35897369
87PRKD20.33917768
88NTRK10.33208659
89TEC0.32539793
90DAPK30.31171631
91PRKCE0.30482972
92MAP3K90.28895888
93PKN20.28248566
94RPS6KC10.27991694
95RPS6KL10.27991694
96PRKCA0.27929860
97AKT10.25827918
98IRAK30.24873261
99SRPK10.24857604
100ILK0.24847513

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.20184233
2Oxidative phosphorylation_Homo sapiens_hsa001903.59095219
3Parkinsons disease_Homo sapiens_hsa050123.14082976
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.59733619
5Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.54746232
6Steroid biosynthesis_Homo sapiens_hsa001002.50325272
7Nicotine addiction_Homo sapiens_hsa050332.42471978
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.39044830
9RNA polymerase_Homo sapiens_hsa030202.15707507
10Huntingtons disease_Homo sapiens_hsa050162.11273653
11Alzheimers disease_Homo sapiens_hsa050102.04462443
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.04350269
13Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.04285247
14Protein export_Homo sapiens_hsa030601.99540397
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.94349047
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.92606103
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.89747553
18alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.84258874
19Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.82181932
20Fanconi anemia pathway_Homo sapiens_hsa034601.72824308
21Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.68881725
22Basal cell carcinoma_Homo sapiens_hsa052171.68086346
23Propanoate metabolism_Homo sapiens_hsa006401.61342851
24Hedgehog signaling pathway_Homo sapiens_hsa043401.54640761
25Homologous recombination_Homo sapiens_hsa034401.54000812
26Peroxisome_Homo sapiens_hsa041461.49202224
27Cardiac muscle contraction_Homo sapiens_hsa042601.48299268
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.38685547
29Linoleic acid metabolism_Homo sapiens_hsa005911.38226448
30Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.35019896
31Butanoate metabolism_Homo sapiens_hsa006501.33389531
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.26040830
33Fat digestion and absorption_Homo sapiens_hsa049751.21503243
34Phototransduction_Homo sapiens_hsa047441.19577359
35RNA degradation_Homo sapiens_hsa030181.17002160
36Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.14246013
37Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.09149764
38Proteasome_Homo sapiens_hsa030501.00998558
39Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.99319149
40Metabolic pathways_Homo sapiens_hsa011000.96621352
41Ether lipid metabolism_Homo sapiens_hsa005650.96192421
42Arachidonic acid metabolism_Homo sapiens_hsa005900.93169900
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.90997578
44Cyanoamino acid metabolism_Homo sapiens_hsa004600.85812563
45Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.85316681
46Olfactory transduction_Homo sapiens_hsa047400.85167304
47Pyrimidine metabolism_Homo sapiens_hsa002400.84838398
48Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.84561365
49Spliceosome_Homo sapiens_hsa030400.81355495
50Glycerolipid metabolism_Homo sapiens_hsa005610.81297712
51Purine metabolism_Homo sapiens_hsa002300.81209895
52Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.80664059
53Axon guidance_Homo sapiens_hsa043600.80217945
54Insulin secretion_Homo sapiens_hsa049110.79996311
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.76362170
562-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.71846359
57N-Glycan biosynthesis_Homo sapiens_hsa005100.71198711
58Morphine addiction_Homo sapiens_hsa050320.70988022
59Cysteine and methionine metabolism_Homo sapiens_hsa002700.70889591
60One carbon pool by folate_Homo sapiens_hsa006700.70534358
61Fatty acid elongation_Homo sapiens_hsa000620.68109250
62Sulfur metabolism_Homo sapiens_hsa009200.68063793
63SNARE interactions in vesicular transport_Homo sapiens_hsa041300.67630458
64RNA transport_Homo sapiens_hsa030130.67491453
65Fatty acid degradation_Homo sapiens_hsa000710.66931161
66Notch signaling pathway_Homo sapiens_hsa043300.65906599
67Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.65141016
68Pyruvate metabolism_Homo sapiens_hsa006200.62682244
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.61420126
70RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.59435605
71Glycerophospholipid metabolism_Homo sapiens_hsa005640.59009780
72Chemical carcinogenesis_Homo sapiens_hsa052040.57808298
73Base excision repair_Homo sapiens_hsa034100.57289128
74Basal transcription factors_Homo sapiens_hsa030220.56181880
75Regulation of autophagy_Homo sapiens_hsa041400.53491724
76Vitamin B6 metabolism_Homo sapiens_hsa007500.53025548
77Mismatch repair_Homo sapiens_hsa034300.52829735
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52290722
79Retinol metabolism_Homo sapiens_hsa008300.52020766
80Glutathione metabolism_Homo sapiens_hsa004800.51416943
81Glutamatergic synapse_Homo sapiens_hsa047240.50702050
82Dopaminergic synapse_Homo sapiens_hsa047280.47538788
83Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.47411713
84Fatty acid metabolism_Homo sapiens_hsa012120.46996427
85Folate biosynthesis_Homo sapiens_hsa007900.46556452
86Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.44500274
87Circadian entrainment_Homo sapiens_hsa047130.42285112
88Glycosaminoglycan degradation_Homo sapiens_hsa005310.41955407
89Other glycan degradation_Homo sapiens_hsa005110.41379558
90Hippo signaling pathway_Homo sapiens_hsa043900.38785775
91Pentose and glucuronate interconversions_Homo sapiens_hsa000400.37734735
92GABAergic synapse_Homo sapiens_hsa047270.37725137
93Cholinergic synapse_Homo sapiens_hsa047250.34813551
94Serotonergic synapse_Homo sapiens_hsa047260.30495756
95Aldosterone synthesis and secretion_Homo sapiens_hsa049250.30068024
96Sulfur relay system_Homo sapiens_hsa041220.29897317
97Primary bile acid biosynthesis_Homo sapiens_hsa001200.27577524
98Maturity onset diabetes of the young_Homo sapiens_hsa049500.27192180
99Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.26868821
100ABC transporters_Homo sapiens_hsa020100.25591007

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