PAFAH1B1

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 locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.99044645
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.72482880
3locomotory exploration behavior (GO:0035641)5.56668982
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.34332058
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.88065304
6glutamate secretion (GO:0014047)4.81953782
7vocalization behavior (GO:0071625)4.73909631
8synaptic vesicle exocytosis (GO:0016079)4.70188437
9regulation of synaptic vesicle exocytosis (GO:2000300)4.68468981
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.43916724
11exploration behavior (GO:0035640)4.30199334
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.24843561
13* layer formation in cerebral cortex (GO:0021819)4.23264016
14regulation of glutamate receptor signaling pathway (GO:1900449)4.18926041
15dendritic spine morphogenesis (GO:0060997)4.14173126
16protein localization to synapse (GO:0035418)4.07941933
17neurotransmitter secretion (GO:0007269)4.04508372
18regulation of synaptic vesicle transport (GO:1902803)4.02837305
19neuron cell-cell adhesion (GO:0007158)4.01837524
20proline transport (GO:0015824)4.01619719
21regulation of synapse structural plasticity (GO:0051823)3.97914325
22regulation of long-term neuronal synaptic plasticity (GO:0048169)3.91560143
23ionotropic glutamate receptor signaling pathway (GO:0035235)3.89415880
24regulation of neuronal synaptic plasticity (GO:0048168)3.89027039
25dendrite morphogenesis (GO:0048813)3.84540878
26gamma-aminobutyric acid transport (GO:0015812)3.84331139
27sodium ion export (GO:0071436)3.82593965
28cellular potassium ion homeostasis (GO:0030007)3.77252658
29neuronal action potential propagation (GO:0019227)3.76881304
30activation of protein kinase A activity (GO:0034199)3.76012696
31presynaptic membrane assembly (GO:0097105)3.59868077
32neuron recognition (GO:0008038)3.50228122
33pyrimidine nucleobase catabolic process (GO:0006208)3.48755793
34presynaptic membrane organization (GO:0097090)3.48081070
35cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43696515
36cell migration in hindbrain (GO:0021535)3.43092166
37membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.42698830
38regulation of dendritic spine morphogenesis (GO:0061001)3.40868354
39axonal fasciculation (GO:0007413)3.39581084
40glutamate receptor signaling pathway (GO:0007215)3.39123402
41synaptic transmission, glutamatergic (GO:0035249)3.38193039
42cell communication by electrical coupling (GO:0010644)3.35123471
43* neuromuscular process controlling balance (GO:0050885)3.34201381
44cerebellar Purkinje cell differentiation (GO:0021702)3.32526008
45positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.30348298
46long-term memory (GO:0007616)3.28198359
47regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.25837157
48neuron-neuron synaptic transmission (GO:0007270)3.25225833
49regulation of NFAT protein import into nucleus (GO:0051532)3.22024687
50neurotransmitter transport (GO:0006836)3.20795832
51amino acid import (GO:0043090)3.17565948
52regulation of excitatory postsynaptic membrane potential (GO:0060079)3.16571496
53neurotransmitter-gated ion channel clustering (GO:0072578)3.16508462
54axon extension (GO:0048675)3.15657978
55glycine transport (GO:0015816)3.15277942
56positive regulation of synapse maturation (GO:0090129)3.14964856
57regulation of ARF protein signal transduction (GO:0032012)3.13949662
58clathrin coat assembly (GO:0048268)3.10014832
59positive regulation of membrane potential (GO:0045838)3.09977949
60cellular sodium ion homeostasis (GO:0006883)3.09824617
61negative regulation of dendrite morphogenesis (GO:0050774)3.09685258
62regulation of synaptic plasticity (GO:0048167)3.06337316
63potassium ion homeostasis (GO:0055075)3.03897179
64regulation of postsynaptic membrane potential (GO:0060078)3.03154428
65synaptic vesicle endocytosis (GO:0048488)3.01739491
66regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.99646846
67regulation of neurotransmitter secretion (GO:0046928)2.99485451
68* organelle transport along microtubule (GO:0072384)2.97321019
69auditory behavior (GO:0031223)2.96862446
70neuronal ion channel clustering (GO:0045161)2.96797730
71prepulse inhibition (GO:0060134)2.96568193
72membrane depolarization during action potential (GO:0086010)2.95990171
73dendritic spine organization (GO:0097061)2.95698203
74innervation (GO:0060384)2.95602336
75mating behavior (GO:0007617)2.94987288
76* vesicle transport along microtubule (GO:0047496)2.94432887
77nerve growth factor signaling pathway (GO:0038180)2.94097806
78regulation of neurotransmitter levels (GO:0001505)2.92483453
79establishment of mitochondrion localization (GO:0051654)2.92103748
80regulation of clathrin-mediated endocytosis (GO:2000369)2.91687746
81cytoskeletal anchoring at plasma membrane (GO:0007016)2.89415825
82neuron projection extension (GO:1990138)2.88781246
83membrane assembly (GO:0071709)2.87149522
84regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.86678769
85synapse assembly (GO:0007416)2.86537938
86positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.85600462
87suckling behavior (GO:0001967)2.85517654
88nucleobase catabolic process (GO:0046113)2.85118349
89regulation of dendritic spine development (GO:0060998)2.84506748
90potassium ion import (GO:0010107)2.84216947
91response to auditory stimulus (GO:0010996)2.83595023
92positive regulation of dendritic spine morphogenesis (GO:0061003)2.83570170
93positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.83221895
94adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.82047719
95positive regulation of synaptic transmission, GABAergic (GO:0032230)2.81644610
96regulation of vesicle fusion (GO:0031338)2.80655555
97synapse organization (GO:0050808)2.78898751
98cerebellar Purkinje cell layer development (GO:0021680)2.77586736
99positive regulation of potassium ion transmembrane transport (GO:1901381)2.77544379
100gamma-aminobutyric acid signaling pathway (GO:0007214)2.77265657
101cell communication involved in cardiac conduction (GO:0086065)2.77068139
102negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.76510822
103social behavior (GO:0035176)2.75639566
104intraspecies interaction between organisms (GO:0051703)2.75639566
105cerebellar granule cell differentiation (GO:0021707)2.75423391
106regulation of synaptic transmission, glutamatergic (GO:0051966)2.75296047
107postsynaptic membrane organization (GO:0001941)2.75156796
108regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.73853590
109positive regulation of dendritic spine development (GO:0060999)2.73341053
110membrane depolarization (GO:0051899)2.72959028
111long-term synaptic potentiation (GO:0060291)2.72936849
112* central nervous system projection neuron axonogenesis (GO:0021952)2.72460929
113regulation of neurotransmitter transport (GO:0051588)2.71474150
114* axon cargo transport (GO:0008088)2.70801184
115cellular response to monoamine stimulus (GO:0071868)2.70673216
116cellular response to catecholamine stimulus (GO:0071870)2.70673216
117L-amino acid import (GO:0043092)2.69282958
118G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.69028870
119* neuromuscular process (GO:0050905)2.69019924
120negative regulation of synaptic transmission, GABAergic (GO:0032229)2.68949791
121mitochondrion transport along microtubule (GO:0047497)2.60124061
122establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.60124061
123apical protein localization (GO:0045176)2.58622404
124neuromuscular synaptic transmission (GO:0007274)2.58019485
125cerebral cortex radially oriented cell migration (GO:0021799)2.57168109
126positive regulation of synapse assembly (GO:0051965)2.55561584
127regulation of dendrite morphogenesis (GO:0048814)2.55487132
128peripheral nervous system axon ensheathment (GO:0032292)2.53128534
129myelination in peripheral nervous system (GO:0022011)2.53128534

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.25862534
2GBX2_23144817_ChIP-Seq_PC3_Human2.77228314
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.75329384
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.72809631
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.67237471
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.51758970
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.51758970
8DROSHA_22980978_ChIP-Seq_HELA_Human2.46616245
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.43954636
10REST_21632747_ChIP-Seq_MESCs_Mouse2.36721293
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.32813851
12RBPJ_22232070_ChIP-Seq_NCS_Mouse2.30681596
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.28544794
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.25966170
15JARID2_20075857_ChIP-Seq_MESCs_Mouse2.23791517
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.21451574
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.16389673
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.13232094
19EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.04145875
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.00907227
21EZH2_27294783_Chip-Seq_ESCs_Mouse1.98704775
22SUZ12_27294783_Chip-Seq_ESCs_Mouse1.97431841
23* ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.91774782
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.91439805
25AR_21572438_ChIP-Seq_LNCaP_Human1.88830914
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.88389740
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.71723746
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.69020189
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.68080131
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.67266175
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.59616154
32TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.56964620
33THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.56746531
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53892262
35SMAD4_21799915_ChIP-Seq_A2780_Human1.52181756
36WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.50971428
37ZNF274_21170338_ChIP-Seq_K562_Hela1.50105124
38WT1_19549856_ChIP-ChIP_CCG9911_Human1.48573921
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.46952103
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.44427005
41RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.42630908
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.42499241
43ZNF217_24962896_ChIP-Seq_MCF-7_Human1.38657860
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.38639558
45TRIM28_21343339_ChIP-Seq_HEK293_Human1.38294391
46KDM2B_26808549_Chip-Seq_K562_Human1.38114706
47* SOX2_21211035_ChIP-Seq_LN229_Gbm1.37610575
48PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35097963
49CDX2_19796622_ChIP-Seq_MESCs_Mouse1.34402311
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33981310
51WT1_25993318_ChIP-Seq_PODOCYTE_Human1.32668195
52* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.31371022
53CTBP1_25329375_ChIP-Seq_LNCAP_Human1.31224481
54* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.29984752
55TAF15_26573619_Chip-Seq_HEK293_Human1.28379647
56RING1B_27294783_Chip-Seq_ESCs_Mouse1.27655209
57AR_19668381_ChIP-Seq_PC3_Human1.26670034
58STAT3_23295773_ChIP-Seq_U87_Human1.26118075
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23024825
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21538101
61NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.21484357
62OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.21421802
63RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20814766
64TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20317354
65AHR_22903824_ChIP-Seq_MCF-7_Human1.19969266
66RING1B_27294783_Chip-Seq_NPCs_Mouse1.19052388
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.18805401
68ARNT_22903824_ChIP-Seq_MCF-7_Human1.18525711
69RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.18456002
70TP53_16413492_ChIP-PET_HCT116_Human1.17353436
71AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17204479
72EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.14833070
73RNF2_27304074_Chip-Seq_NSC_Mouse1.14144596
74* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.13838012
75AR_25329375_ChIP-Seq_VCAP_Human1.13347983
76PIAS1_25552417_ChIP-Seq_VCAP_Human1.12642045
77ISL1_27105846_Chip-Seq_CPCs_Mouse1.12411087
78GATA1_26923725_Chip-Seq_HPCs_Mouse1.10728052
79ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09219270
80TOP2B_26459242_ChIP-Seq_MCF-7_Human1.08703292
81DNAJC2_21179169_ChIP-ChIP_NT2_Human1.08576450
82P300_19829295_ChIP-Seq_ESCs_Human1.08056534
83CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.06534024
84ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.05324280
85TCF4_23295773_ChIP-Seq_U87_Human1.04416132
86PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.03432442
87TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01794666
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.01048835
89SMAD3_21741376_ChIP-Seq_ESCs_Human1.00838272
90SMAD4_21741376_ChIP-Seq_HESCs_Human1.00751728
91* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00191324
92ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.99445076
93GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97910933
94SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.97632324
95STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97329705
96CTNNB1_20460455_ChIP-Seq_HCT116_Human0.97139389
97EP300_21415370_ChIP-Seq_HL-1_Mouse0.96860206
98SOX9_26525672_Chip-Seq_HEART_Mouse0.96598701
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95243608
100RXR_22108803_ChIP-Seq_LS180_Human0.95070962
101ZFP57_27257070_Chip-Seq_ESCs_Mouse0.94384005
102P53_22127205_ChIP-Seq_FIBROBLAST_Human0.94117948
103SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.93081006
104TET1_21490601_ChIP-Seq_MESCs_Mouse0.92289210
105TP53_18474530_ChIP-ChIP_U2OS_Human0.91530224
106TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91248774
107MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.90898982
108BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.90867667
109SMAD3_21741376_ChIP-Seq_HESCs_Human0.90857659
110TP53_20018659_ChIP-ChIP_R1E_Mouse0.90733692
111EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.90578941
112IGF1R_20145208_ChIP-Seq_DFB_Human0.90237599
113BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.89709386
114TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88982882
115VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.87816916
116CBX2_27304074_Chip-Seq_ESCs_Mouse0.87371576
117NRF2_20460467_ChIP-Seq_MEFs_Mouse0.87126131
118NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.87126131
119KDM2B_26808549_Chip-Seq_SUP-B15_Human0.87119210
120RUNX2_22187159_ChIP-Seq_PCA_Human0.86300361
121KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.86070214

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.49536539
2MP0004270_analgesia4.11314874
3MP0003635_abnormal_synaptic_transmissio3.98221947
4MP0003880_abnormal_central_pattern3.92731125
5* MP0002063_abnormal_learning/memory/cond3.09440255
6MP0009745_abnormal_behavioral_response3.01403190
7MP0009046_muscle_twitch2.83836201
8MP0002064_seizures2.82343527
9MP0001968_abnormal_touch/_nociception2.74831519
10MP0002734_abnormal_mechanical_nocicepti2.73778544
11MP0005423_abnormal_somatic_nervous2.68268414
12MP0009780_abnormal_chondrocyte_physiolo2.45548027
13MP0002572_abnormal_emotion/affect_behav2.41492995
14MP0001486_abnormal_startle_reflex2.36528757
15MP0002272_abnormal_nervous_system2.28067574
16MP0004858_abnormal_nervous_system2.18196766
17MP0002735_abnormal_chemical_nociception2.14685572
18MP0002733_abnormal_thermal_nociception2.13441730
19MP0000778_abnormal_nervous_system2.07493307
20MP0003329_amyloid_beta_deposits2.06167202
21MP0001440_abnormal_grooming_behavior2.04532385
22MP0000569_abnormal_digit_pigmentation1.97469539
23MP0002909_abnormal_adrenal_gland1.95611610
24MP0005409_darkened_coat_color1.94857165
25MP0001970_abnormal_pain_threshold1.92058849
26MP0002736_abnormal_nociception_after1.92028252
27* MP0004811_abnormal_neuron_physiology1.91885450
28MP0002822_catalepsy1.89919854
29MP0002184_abnormal_innervation1.88038038
30MP0001501_abnormal_sleep_pattern1.87553415
31MP0008569_lethality_at_weaning1.86027374
32MP0004885_abnormal_endolymph1.82160906
33* MP0002067_abnormal_sensory_capabilities1.76482032
34MP0000955_abnormal_spinal_cord1.74425474
35MP0004924_abnormal_behavior1.72840995
36MP0005386_behavior/neurological_phenoty1.72840995
37MP0003705_abnormal_hypodermis_morpholog1.63836549
38MP0002557_abnormal_social/conspecific_i1.61191563
39MP0010234_abnormal_vibrissa_follicle1.60646829
40* MP0002882_abnormal_neuron_morphology1.44502190
41MP0003633_abnormal_nervous_system1.41467919
42* MP0002066_abnormal_motor_capabilities/c1.38132577
43MP0005623_abnormal_meninges_morphology1.37861618
44MP0003787_abnormal_imprinting1.33088395
45MP0006276_abnormal_autonomic_nervous1.32305266
46MP0000579_abnormal_nail_morphology1.30674861
47MP0000751_myopathy1.22679209
48MP0001299_abnormal_eye_distance/1.22128243
49MP0001984_abnormal_olfaction1.22023651
50MP0003123_paternal_imprinting1.21866952
51MP0003631_nervous_system_phenotype1.20526647
52* MP0002152_abnormal_brain_morphology1.18763229
53MP0004145_abnormal_muscle_electrophysio1.15844285
54MP0001188_hyperpigmentation1.14823789
55MP0000920_abnormal_myelination1.12805592
56MP0003690_abnormal_glial_cell1.12359923
57MP0003283_abnormal_digestive_organ1.11862047
58MP0003879_abnormal_hair_cell1.10396093
59MP0005187_abnormal_penis_morphology1.06432286
60* MP0003634_abnormal_glial_cell1.04087821
61MP0001177_atelectasis1.02503175
62MP0008961_abnormal_basal_metabolism1.01424693
63MP0000013_abnormal_adipose_tissue1.00207866
64MP0005645_abnormal_hypothalamus_physiol0.99469140
65MP0003632_abnormal_nervous_system0.99411329
66MP0001958_emphysema0.99160094
67MP0002229_neurodegeneration0.95395219
68MP0003122_maternal_imprinting0.94811832
69MP0004130_abnormal_muscle_cell0.94642711
70MP0001348_abnormal_lacrimal_gland0.94218656
71MP0005646_abnormal_pituitary_gland0.93456759
72MP0000604_amyloidosis0.91043387
73MP0001502_abnormal_circadian_rhythm0.88482065
74MP0004085_abnormal_heartbeat0.87546272
75MP0005248_abnormal_Harderian_gland0.87042404
76MP0004742_abnormal_vestibular_system0.86916078
77MP0008438_abnormal_cutaneous_collagen0.86499342
78MP0002081_perinatal_lethality0.84516457
79MP0001346_abnormal_lacrimal_gland0.84054888
80MP0004233_abnormal_muscle_weight0.83677673
81MP0003091_abnormal_cell_migration0.83372766
82MP0004215_abnormal_myocardial_fiber0.83368799
83MP0004142_abnormal_muscle_tone0.82799782
84MP0003385_abnormal_body_wall0.81911422
85MP0004484_altered_response_of0.78539225
86MP0002069_abnormal_eating/drinking_beha0.77327622
87MP0005275_abnormal_skin_tensile0.75262236
88MP0003121_genomic_imprinting0.75247032
89MP0005167_abnormal_blood-brain_barrier0.75003223
90* MP0003861_abnormal_nervous_system0.74617455
91MP0008874_decreased_physiological_sensi0.74396476
92MP0003137_abnormal_impulse_conducting0.74304152
93MP0000747_muscle_weakness0.74069707
94* MP0002082_postnatal_lethality0.70220702
95MP0002837_dystrophic_cardiac_calcinosis0.70161653
96MP0002752_abnormal_somatic_nervous0.70112693
97MP0000733_abnormal_muscle_development0.70075219
98MP0002090_abnormal_vision0.69790653
99MP0003045_fibrosis0.69405419
100MP0000631_abnormal_neuroendocrine_gland0.68083938
101MP0002638_abnormal_pupillary_reflex0.66461739
102MP0005388_respiratory_system_phenotype0.66273090
103MP0002133_abnormal_respiratory_system0.66273090
104* MP0010768_mortality/aging0.66170404
105MP0001905_abnormal_dopamine_level0.65819473
106MP0000759_abnormal_skeletal_muscle0.65517694
107MP0003075_altered_response_to0.65047726
108MP0004087_abnormal_muscle_fiber0.64381228
109MP0001943_abnormal_respiration0.63580466
110MP0004510_myositis0.62986445
111MP0002089_abnormal_postnatal_growth/wei0.62747851
112MP0000534_abnormal_ureter_morphology0.62234764
113MP0002896_abnormal_bone_mineralization0.61846910
114MP0001963_abnormal_hearing_physiology0.61693118
115MP0002877_abnormal_melanocyte_morpholog0.60701032
116MP0005535_abnormal_body_temperature0.60427226
117MP0001485_abnormal_pinna_reflex0.59905121
118MP0001879_abnormal_lymphatic_vessel0.59611496
119MP0003942_abnormal_urinary_system0.58469493
120MP0008872_abnormal_physiological_respon0.57772145
121MP0000537_abnormal_urethra_morphology0.57721179
122MP0005551_abnormal_eye_electrophysiolog0.56861977
123MP0005620_abnormal_muscle_contractility0.56658324
124* MP0010769_abnormal_survival0.55386801
125MP0002234_abnormal_pharynx_morphology0.54245454
126MP0010386_abnormal_urinary_bladder0.52591024
127MP0003172_abnormal_lysosome_physiology0.52486806
128* MP0010770_preweaning_lethality0.52200956

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.67442676
2Focal motor seizures (HP:0011153)5.36255222
3Focal seizures (HP:0007359)4.70588209
4Visual hallucinations (HP:0002367)4.48616768
5Action tremor (HP:0002345)4.19075148
6Supranuclear gaze palsy (HP:0000605)3.75263518
7Insidious onset (HP:0003587)3.61694777
8Termporal pattern (HP:0011008)3.61694777
9Progressive cerebellar ataxia (HP:0002073)3.57893883
10Papilledema (HP:0001085)3.56879532
11Ankle clonus (HP:0011448)3.50065910
12Atonic seizures (HP:0010819)3.46793582
13Epileptic encephalopathy (HP:0200134)3.38022154
14Mutism (HP:0002300)3.20507452
15Absence seizures (HP:0002121)3.16038802
16Urinary bladder sphincter dysfunction (HP:0002839)3.08641640
17Febrile seizures (HP:0002373)3.07885401
18Abnormality of the corticospinal tract (HP:0002492)3.03418292
19Impaired vibration sensation in the lower limbs (HP:0002166)3.01280698
20Urinary urgency (HP:0000012)2.99516250
21Generalized tonic-clonic seizures (HP:0002069)2.97666897
22Depression (HP:0000716)2.94655478
23Broad-based gait (HP:0002136)2.93483634
24Poor eye contact (HP:0000817)2.87091526
25Dialeptic seizures (HP:0011146)2.84667115
26Cerebral inclusion bodies (HP:0100314)2.80833437
27Dysdiadochokinesis (HP:0002075)2.79715999
28Truncal ataxia (HP:0002078)2.77945797
29Intention tremor (HP:0002080)2.77417248
30Impaired social interactions (HP:0000735)2.76969698
31Abnormal social behavior (HP:0012433)2.76969698
32Abnormality of the lower motor neuron (HP:0002366)2.74728133
33Genetic anticipation (HP:0003743)2.69797225
34Neurofibrillary tangles (HP:0002185)2.69641807
35Megalencephaly (HP:0001355)2.69014686
36Dysmetria (HP:0001310)2.68552517
37Excessive salivation (HP:0003781)2.67433496
38Drooling (HP:0002307)2.67433496
39Spastic gait (HP:0002064)2.64588167
40Postural instability (HP:0002172)2.64582351
41Gaze-evoked nystagmus (HP:0000640)2.63773610
42Amyotrophic lateral sclerosis (HP:0007354)2.61006547
43Arterial tortuosity (HP:0005116)2.43017076
44Insomnia (HP:0100785)2.39376991
45Inappropriate behavior (HP:0000719)2.38284901
46Macroorchidism (HP:0000053)2.36526574
47Vertebral arch anomaly (HP:0008438)2.36123203
48Lower limb muscle weakness (HP:0007340)2.35780448
49Progressive inability to walk (HP:0002505)2.35326145
50Anxiety (HP:0000739)2.33520562
51Abnormal eating behavior (HP:0100738)2.33028345
52Amblyopia (HP:0000646)2.32840678
53Vascular tortuosity (HP:0004948)2.32777985
54Aqueductal stenosis (HP:0002410)2.30252141
55Ventricular fibrillation (HP:0001663)2.27141395
56Hemiparesis (HP:0001269)2.26521875
57Pheochromocytoma (HP:0002666)2.26315801
58Impaired smooth pursuit (HP:0007772)2.25125907
59Scanning speech (HP:0002168)2.25089190
60Hemiplegia (HP:0002301)2.23820387
61Torticollis (HP:0000473)2.22746391
62Overgrowth (HP:0001548)2.22497154
63Pointed chin (HP:0000307)2.20671720
64Agitation (HP:0000713)2.18855554
65Diplopia (HP:0000651)2.17918969
66Abnormality of binocular vision (HP:0011514)2.17918969
67Dysmetric saccades (HP:0000641)2.16142455
68Shallow orbits (HP:0000586)2.12733596
69Apathy (HP:0000741)2.11295975
70Bundle branch block (HP:0011710)2.08158581
71Stereotypic behavior (HP:0000733)2.07470145
72Akinesia (HP:0002304)2.07259747
73Bradykinesia (HP:0002067)2.06602577
74Lower limb amyotrophy (HP:0007210)2.06096544
75Abnormality of ocular smooth pursuit (HP:0000617)2.05623809
76Sleep apnea (HP:0010535)2.04989072
77Turricephaly (HP:0000262)2.04681230
78Tetraplegia (HP:0002445)2.03415484
79Limb dystonia (HP:0002451)2.03280985
80Degeneration of the lateral corticospinal tracts (HP:0002314)2.01909394
81Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.01909394
82Resting tremor (HP:0002322)2.00116955
83Ankyloglossia (HP:0010296)1.99764266
84Aplasia involving bones of the upper limbs (HP:0009823)1.98754343
85Aplasia of the phalanges of the hand (HP:0009802)1.98754343
86Aplasia involving bones of the extremities (HP:0009825)1.98754343
87Difficulty running (HP:0009046)1.94485799
88Hyperventilation (HP:0002883)1.94268071
89Lower limb asymmetry (HP:0100559)1.93915146
90Fetal akinesia sequence (HP:0001989)1.93756199
91Clonus (HP:0002169)1.93349561
92Absent speech (HP:0001344)1.90406644
93Rapidly progressive (HP:0003678)1.89593379
94Neuronal loss in central nervous system (HP:0002529)1.89007513
95Impaired vibratory sensation (HP:0002495)1.88736964
96EEG with generalized epileptiform discharges (HP:0011198)1.88673277
97Epileptiform EEG discharges (HP:0011182)1.88007448
98Focal dystonia (HP:0004373)1.87734799
99Hypsarrhythmia (HP:0002521)1.87377554
100Hammertoe (HP:0001765)1.87120360
101Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.86787026
102Decreased motor nerve conduction velocity (HP:0003431)1.85888294
103Protrusio acetabuli (HP:0003179)1.85478215
104Obstructive sleep apnea (HP:0002870)1.84136573
105Neoplasm of the peripheral nervous system (HP:0100007)1.82711767
106Neuroendocrine neoplasm (HP:0100634)1.82638014
107Diminished motivation (HP:0000745)1.81968890
108Mild short stature (HP:0003502)1.81492802
109Postural tremor (HP:0002174)1.81352157
110Bronchomalacia (HP:0002780)1.80133642
111Morphological abnormality of the pyramidal tract (HP:0002062)1.79681699
112Thickened helices (HP:0000391)1.78593778
113Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.77948252
114Annular pancreas (HP:0001734)1.77606942
115Broad metatarsal (HP:0001783)1.77239493
116Gait ataxia (HP:0002066)1.76180798
117Abnormality of salivation (HP:0100755)1.75815037
118Intellectual disability, profound (HP:0002187)1.74987300
119Hyperacusis (HP:0010780)1.74600917
120Bowel diverticulosis (HP:0005222)1.72663248
121Peripheral hypomyelination (HP:0007182)1.72319793
122Cerebral aneurysm (HP:0004944)1.69766387
123Foot dorsiflexor weakness (HP:0009027)1.69732199
124Atrophic scars (HP:0001075)1.68657735
125Abnormality of the foot musculature (HP:0001436)1.68528705
126Hypoventilation (HP:0002791)1.67636308
127Bladder diverticulum (HP:0000015)1.65855521
128Overriding aorta (HP:0002623)1.65634311
129Arnold-Chiari malformation (HP:0002308)1.62746414
130Hyporeflexia of lower limbs (HP:0002600)1.61963903

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.34207773
2MAP3K94.06043580
3NTRK33.78372794
4MAP3K42.89507123
5EPHA42.85706970
6MINK12.70029368
7PAK62.49736298
8KSR22.39669793
9NTRK12.19046453
10DAPK22.08881780
11NTRK22.05791967
12PRKD32.02138985
13CAMKK11.92241602
14MAP2K71.86647640
15MAP2K41.72929159
16MAP3K21.72148922
17KSR11.64915804
18LATS21.64646107
19PHKG11.57575792
20PHKG21.57575792
21CDK51.49632606
22TYRO31.45033379
23RET1.42473755
24PNCK1.34463192
25SCYL21.33487803
26STK381.30833372
27LMTK21.24517514
28ALK1.21499473
29SIK21.18636161
30RIPK41.18564063
31UHMK11.16890202
32STK111.13578407
33PAK31.12040483
34MAPK131.11657452
35TAOK11.09978059
36RIPK11.08075391
37PLK21.06114056
38FGFR21.05931144
39GRK51.02729457
40WNK10.99729179
41CSNK1G20.98833981
42CAMKK20.98802788
43PRKCH0.97400941
44PRKCG0.90408834
45CDK140.88191167
46ROCK20.86810900
47CDK150.84731547
48CAMK1G0.84190071
49MAPK120.83753190
50CDK180.83039981
51BCR0.83005970
52EPHB20.82853407
53MAP3K120.80713676
54PDGFRA0.78545978
55SGK4940.78429066
56SGK2230.78429066
57TTN0.78226742
58MARK20.76469504
59CDK190.76438383
60DAPK10.75062952
61ARAF0.74812404
62ERBB30.73818071
63STK390.73717864
64EEF2K0.73580542
65CAMK2A0.73515292
66ICK0.72391645
67CDK11A0.70589251
68PDK10.70260109
69CAMK40.70087544
70SGK30.69343073
71NEK60.68645007
72NEK10.66939721
73CDK120.66179513
74DDR20.66084987
75TRIB30.65676205
76PDPK10.65675194
77MOS0.65457559
78SGK10.64782010
79OXSR10.63824057
80FES0.63008105
81FER0.60662425
82MAP3K60.60287155
83LIMK10.60057190
84TNIK0.59981895
85LATS10.59286401
86DMPK0.59220625
87CAMK1D0.58748568
88FYN0.56656685
89EPHA30.56531898
90CAMK10.56199787
91PRPF4B0.56124377
92CAMK2B0.55746925
93DYRK1A0.55213618
94PTK20.55161912
95MAP3K10.54157019
96PRKCZ0.53796367
97SGK20.53669180
98CDC42BPA0.52966171
99PKN20.52594066
100RAF10.51489072
101RPS6KA30.51255848
102BRD40.51091750
103MAPK100.49450829
104PTK2B0.49312435
105CAMK2G0.49193481
106FRK0.48728309
107DYRK1B0.48053406
108PDGFRB0.46849472
109PKN10.46455170
110BRAF0.44857667
111MAP3K100.44412998
112ROCK10.44228730
113RPS6KA20.44198804
114CSNK1A1L0.43625441
115CASK0.41938081
116FGFR30.41289748
117MAP3K70.41095045
118FGR0.40796789
119DYRK20.40336078
120PDK40.39515028
121PDK30.39515028
122PRKCE0.39389116
123YES10.39275710
124MAP3K130.39186520
125WNK40.38440111
126NEK90.36542323

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.67809409
2Synaptic vesicle cycle_Homo sapiens_hsa047212.64591130
3Long-term potentiation_Homo sapiens_hsa047202.40523176
4Olfactory transduction_Homo sapiens_hsa047402.37717112
5Circadian entrainment_Homo sapiens_hsa047132.29109995
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.27226214
7GABAergic synapse_Homo sapiens_hsa047272.24705348
8Glutamatergic synapse_Homo sapiens_hsa047242.19064306
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.10793181
10Morphine addiction_Homo sapiens_hsa050322.01319492
11Amphetamine addiction_Homo sapiens_hsa050311.98752669
12Dopaminergic synapse_Homo sapiens_hsa047281.98630745
13Salivary secretion_Homo sapiens_hsa049701.89898108
14Cholinergic synapse_Homo sapiens_hsa047251.81353330
15Gastric acid secretion_Homo sapiens_hsa049711.80793669
16Insulin secretion_Homo sapiens_hsa049111.72299521
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.71599772
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.64842299
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.60448694
20Renin secretion_Homo sapiens_hsa049241.58750884
21Long-term depression_Homo sapiens_hsa047301.57928710
22Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.56035063
23Oxytocin signaling pathway_Homo sapiens_hsa049211.55721778
24GnRH signaling pathway_Homo sapiens_hsa049121.50369335
25Type II diabetes mellitus_Homo sapiens_hsa049301.42452856
26Gap junction_Homo sapiens_hsa045401.41092904
27Glioma_Homo sapiens_hsa052141.39064406
28Cocaine addiction_Homo sapiens_hsa050301.38745898
29Estrogen signaling pathway_Homo sapiens_hsa049151.37964401
30Taste transduction_Homo sapiens_hsa047421.37629832
31Axon guidance_Homo sapiens_hsa043601.36587136
32Nitrogen metabolism_Homo sapiens_hsa009101.33109295
33Dorso-ventral axis formation_Homo sapiens_hsa043201.32953860
34Serotonergic synapse_Homo sapiens_hsa047261.32276282
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25676343
36Calcium signaling pathway_Homo sapiens_hsa040201.21785245
37ErbB signaling pathway_Homo sapiens_hsa040121.21229840
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.19924680
39cAMP signaling pathway_Homo sapiens_hsa040241.19083837
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17792260
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10602963
42Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.09348334
43Melanogenesis_Homo sapiens_hsa049161.08792379
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07751886
45Adherens junction_Homo sapiens_hsa045201.02900881
46Phospholipase D signaling pathway_Homo sapiens_hsa040721.00423426
47Oocyte meiosis_Homo sapiens_hsa041140.98348854
48mTOR signaling pathway_Homo sapiens_hsa041500.96954477
49Neurotrophin signaling pathway_Homo sapiens_hsa047220.91925966
50Endometrial cancer_Homo sapiens_hsa052130.91615048
51VEGF signaling pathway_Homo sapiens_hsa043700.91568533
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.89180721
53Dilated cardiomyopathy_Homo sapiens_hsa054140.88414131
54Renal cell carcinoma_Homo sapiens_hsa052110.87962871
55Choline metabolism in cancer_Homo sapiens_hsa052310.85692644
56Thyroid hormone synthesis_Homo sapiens_hsa049180.84168814
57AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.82594068
58Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80934018
59Pancreatic secretion_Homo sapiens_hsa049720.80733626
60MAPK signaling pathway_Homo sapiens_hsa040100.78590211
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.77923619
62Chronic myeloid leukemia_Homo sapiens_hsa052200.77531060
63Sphingolipid signaling pathway_Homo sapiens_hsa040710.73311407
64Endocytosis_Homo sapiens_hsa041440.72623644
65Collecting duct acid secretion_Homo sapiens_hsa049660.70996262
66ECM-receptor interaction_Homo sapiens_hsa045120.70666903
67Ras signaling pathway_Homo sapiens_hsa040140.69240750
68Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.69159096
69Rap1 signaling pathway_Homo sapiens_hsa040150.69072887
70Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.67828612
71Non-small cell lung cancer_Homo sapiens_hsa052230.67019070
72Insulin signaling pathway_Homo sapiens_hsa049100.66954264
73Amoebiasis_Homo sapiens_hsa051460.66923916
74Glucagon signaling pathway_Homo sapiens_hsa049220.66178959
75Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.64992153
76Hedgehog signaling pathway_Homo sapiens_hsa043400.64961874
77Circadian rhythm_Homo sapiens_hsa047100.63734951
78Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63543775
79Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.62869425
80Colorectal cancer_Homo sapiens_hsa052100.62220752
81Alcoholism_Homo sapiens_hsa050340.59117559
82Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58836760
83Cardiac muscle contraction_Homo sapiens_hsa042600.58695486
84Pancreatic cancer_Homo sapiens_hsa052120.58042472
85Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.57448794
86MicroRNAs in cancer_Homo sapiens_hsa052060.56922742
87Inositol phosphate metabolism_Homo sapiens_hsa005620.56322052
88Vibrio cholerae infection_Homo sapiens_hsa051100.56190366
89Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.56070094
90Tight junction_Homo sapiens_hsa045300.56002348
91Wnt signaling pathway_Homo sapiens_hsa043100.55208446
92Bile secretion_Homo sapiens_hsa049760.55106841
93Protein digestion and absorption_Homo sapiens_hsa049740.54638989
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54151009
95Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.52029406
96Central carbon metabolism in cancer_Homo sapiens_hsa052300.51882212
97Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.51197805
98Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49510123
99Prolactin signaling pathway_Homo sapiens_hsa049170.49390555
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.48886612
101Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.48651432
102Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.48182627
103FoxO signaling pathway_Homo sapiens_hsa040680.48086617
104Phototransduction_Homo sapiens_hsa047440.47386643
105Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.47210395
106Platelet activation_Homo sapiens_hsa046110.46732309
107Proteoglycans in cancer_Homo sapiens_hsa052050.45534171
108Focal adhesion_Homo sapiens_hsa045100.45313141
109Prion diseases_Homo sapiens_hsa050200.45281514
110Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45143178
111Chemokine signaling pathway_Homo sapiens_hsa040620.43861870
112Hippo signaling pathway_Homo sapiens_hsa043900.42976728
113AMPK signaling pathway_Homo sapiens_hsa041520.42374736

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