PPFIA4

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: PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.58320367
2locomotory exploration behavior (GO:0035641)6.39893263
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.17714225
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.86809946
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.66874927
6vocalization behavior (GO:0071625)5.44340177
7neuronal action potential propagation (GO:0019227)5.26642515
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.19194206
9synaptic vesicle exocytosis (GO:0016079)5.13073136
10ionotropic glutamate receptor signaling pathway (GO:0035235)5.10349881
11gamma-aminobutyric acid transport (GO:0015812)5.05359975
12sodium ion export (GO:0071436)4.94944192
13regulation of synaptic vesicle exocytosis (GO:2000300)4.87697620
14neurotransmitter secretion (GO:0007269)4.82943389
15glutamate secretion (GO:0014047)4.82189922
16cellular potassium ion homeostasis (GO:0030007)4.78555239
17regulation of glutamate receptor signaling pathway (GO:1900449)4.65232845
18regulation of synapse structural plasticity (GO:0051823)4.58018274
19exploration behavior (GO:0035640)4.56456245
20glutamate receptor signaling pathway (GO:0007215)4.55582928
21cerebellar granule cell differentiation (GO:0021707)4.50929414
22synaptic vesicle docking involved in exocytosis (GO:0016081)4.49704762
23cerebellar Purkinje cell differentiation (GO:0021702)4.47623621
24synaptic transmission, glutamatergic (GO:0035249)4.45840478
25membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.34845299
26regulation of long-term neuronal synaptic plasticity (GO:0048169)4.32791537
27regulation of synaptic vesicle transport (GO:1902803)4.31599853
28long-term memory (GO:0007616)4.29750721
29layer formation in cerebral cortex (GO:0021819)4.28533762
30response to pheromone (GO:0019236)4.27289038
31neuromuscular process controlling posture (GO:0050884)4.23854602
32regulation of neuronal synaptic plasticity (GO:0048168)4.18687190
33neuromuscular process controlling balance (GO:0050885)4.18106363
34cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.09562899
35protein localization to synapse (GO:0035418)4.07737866
36neuron-neuron synaptic transmission (GO:0007270)4.04897728
37positive regulation of synapse maturation (GO:0090129)4.04695196
38postsynaptic membrane organization (GO:0001941)3.95324633
39G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.92502637
40regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.88262516
41neurotransmitter-gated ion channel clustering (GO:0072578)3.85858793
42regulation of excitatory postsynaptic membrane potential (GO:0060079)3.84128615
43neurotransmitter transport (GO:0006836)3.82708181
44cell communication involved in cardiac conduction (GO:0086065)3.80875339
45regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.76771311
46cell communication by electrical coupling (GO:0010644)3.74814992
47activation of protein kinase A activity (GO:0034199)3.74689455
48proline transport (GO:0015824)3.74517332
49dendritic spine morphogenesis (GO:0060997)3.71604505
50positive regulation of membrane potential (GO:0045838)3.71104467
51glycine transport (GO:0015816)3.70102357
52positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.70027641
53amino acid import (GO:0043090)3.68214047
54positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.66748561
55negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.66718431
56gamma-aminobutyric acid signaling pathway (GO:0007214)3.66552993
57cytoskeletal anchoring at plasma membrane (GO:0007016)3.64431231
58synaptic vesicle endocytosis (GO:0048488)3.64317401
59regulation of neurotransmitter levels (GO:0001505)3.63450674
60regulation of postsynaptic membrane potential (GO:0060078)3.61149087
61membrane depolarization during action potential (GO:0086010)3.59827627
62neuron cell-cell adhesion (GO:0007158)3.57348170
63transmission of nerve impulse (GO:0019226)3.55115774
64axon ensheathment in central nervous system (GO:0032291)3.51980322
65central nervous system myelination (GO:0022010)3.51980322
66cell differentiation in hindbrain (GO:0021533)3.50285894
67potassium ion import (GO:0010107)3.46547118
68regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.46225772
69prepulse inhibition (GO:0060134)3.42552722
70auditory behavior (GO:0031223)3.37328820
71dendrite morphogenesis (GO:0048813)3.37297432
72regulation of ARF protein signal transduction (GO:0032012)3.37149018
73regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.37104980
74regulation of neurotransmitter secretion (GO:0046928)3.36175627
75neuromuscular synaptic transmission (GO:0007274)3.35977469
76membrane depolarization (GO:0051899)3.35835665
77response to auditory stimulus (GO:0010996)3.35077854
78adult walking behavior (GO:0007628)3.32244643
79regulation of synaptic plasticity (GO:0048167)3.29139291
80neuromuscular process (GO:0050905)3.27642942
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.26003476
82regulation of dendritic spine morphogenesis (GO:0061001)3.25203095
83cellular sodium ion homeostasis (GO:0006883)3.22930932
84cardiac muscle contraction (GO:0060048)3.20738241
85regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.20175569
86regulation of cell communication by electrical coupling (GO:0010649)3.16745099
87regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.15759401
88positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.13126926
89negative regulation of synaptic transmission, GABAergic (GO:0032229)3.12676231
90membrane hyperpolarization (GO:0060081)3.12122390
91positive regulation of dendritic spine development (GO:0060999)3.10883015
92regulation of neurotransmitter transport (GO:0051588)3.10731442
93positive regulation of potassium ion transmembrane transport (GO:1901381)3.10155793
94L-amino acid import (GO:0043092)3.09801419
95potassium ion homeostasis (GO:0055075)3.06176302
96neurotransmitter uptake (GO:0001504)3.05160015
97regulation of vesicle fusion (GO:0031338)3.04865090
98vesicle transport along microtubule (GO:0047496)3.03801998
99establishment of nucleus localization (GO:0040023)3.03801375
100positive regulation of synaptic transmission, GABAergic (GO:0032230)3.03690714
101regulation of synapse maturation (GO:0090128)3.03285081
102positive regulation of neurotransmitter secretion (GO:0001956)3.02256978
103regulation of dendritic spine development (GO:0060998)3.01997237
104positive regulation of dendritic spine morphogenesis (GO:0061003)2.99909116
105long-term synaptic potentiation (GO:0060291)2.98408552
106positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.97479040
107positive regulation of neurotransmitter transport (GO:0051590)2.96238350
108regulation of voltage-gated calcium channel activity (GO:1901385)2.96043073
109cell migration in hindbrain (GO:0021535)2.95848163
110detection of calcium ion (GO:0005513)2.95572187
111negative regulation of dendrite morphogenesis (GO:0050774)2.95488250
112positive regulation of dendrite development (GO:1900006)2.95336840
113behavioral fear response (GO:0001662)2.94009213
114behavioral defense response (GO:0002209)2.94009213
115neuronal ion channel clustering (GO:0045161)2.93365972
116regulation of clathrin-mediated endocytosis (GO:2000369)2.92958251
117chemosensory behavior (GO:0007635)2.89323006
118cerebellar Purkinje cell layer development (GO:0021680)2.89063992
119synaptic transmission (GO:0007268)2.88880254
120dendritic spine organization (GO:0097061)2.88786812
121regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.88604111
122mating behavior (GO:0007617)2.88594486
123membrane repolarization (GO:0086009)2.88285232
124regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.87767752
125establishment of mitochondrion localization (GO:0051654)2.87017130
126cardiac conduction (GO:0061337)2.86904989

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.56432176
2DROSHA_22980978_ChIP-Seq_HELA_Human3.12090513
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.09286386
4IKZF1_21737484_ChIP-ChIP_HCT116_Human3.06134859
5REST_21632747_ChIP-Seq_MESCs_Mouse2.97221055
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.92690016
7SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.92638846
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.85007196
9EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.81450617
10MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.77591686
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.72597636
12RNF2_18974828_ChIP-Seq_MESCs_Mouse2.72597636
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.54532902
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.49480895
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49069886
16GBX2_23144817_ChIP-Seq_PC3_Human2.47237187
17REST_18959480_ChIP-ChIP_MESCs_Mouse2.46342911
18SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.39360927
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.34245696
20SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.31259757
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.25899209
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.14116515
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.09109413
24EZH2_27304074_Chip-Seq_ESCs_Mouse2.04975670
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.98000177
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.95060355
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.90963521
28EED_16625203_ChIP-ChIP_MESCs_Mouse1.90159159
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.82104535
30KDM2B_26808549_Chip-Seq_K562_Human1.65381418
31DNAJC2_21179169_ChIP-ChIP_NT2_Human1.64408603
32RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.60452394
33ZFP281_18757296_ChIP-ChIP_E14_Mouse1.54512725
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50894010
35AR_21572438_ChIP-Seq_LNCaP_Human1.48102466
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.47150989
37* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.44805624
38GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.44041140
39ZNF274_21170338_ChIP-Seq_K562_Hela1.43621451
40THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43129866
41TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.37988345
42* SMAD4_21799915_ChIP-Seq_A2780_Human1.37102995
43SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.33816170
44WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.31895997
45RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.30190700
46AR_19668381_ChIP-Seq_PC3_Human1.30146971
47ZFP281_27345836_Chip-Seq_ESCs_Mouse1.29739658
48TRIM28_21343339_ChIP-Seq_HEK293_Human1.27057136
49RING1B_27294783_Chip-Seq_ESCs_Mouse1.26390073
50SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.25749549
51KDM2B_26808549_Chip-Seq_SUP-B15_Human1.25157303
52WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24639623
53SOX2_21211035_ChIP-Seq_LN229_Gbm1.22163606
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.20701009
55CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.18881136
56TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.17517617
57PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.16282318
58PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14471878
59EP300_21415370_ChIP-Seq_HL-1_Mouse1.12192725
60CTBP2_25329375_ChIP-Seq_LNCAP_Human1.12103130
61PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.11005826
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.08887076
63TP53_16413492_ChIP-PET_HCT116_Human1.08858936
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07741215
65VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07606158
66DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.07559191
67SMAD_19615063_ChIP-ChIP_OVARY_Human1.06644935
68* RING1B_27294783_Chip-Seq_NPCs_Mouse1.05890626
69STAT3_23295773_ChIP-Seq_U87_Human1.05614239
70SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05484840
71TET1_21490601_ChIP-Seq_MESCs_Mouse1.02687525
72SMAD3_21741376_ChIP-Seq_ESCs_Human1.02129243
73SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01078114
74* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.00838710
75KDM2B_26808549_Chip-Seq_DND41_Human0.99617956
76RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97647526
77GATA1_26923725_Chip-Seq_HPCs_Mouse0.97442700
78CTBP1_25329375_ChIP-Seq_LNCAP_Human0.96325490
79AHR_22903824_ChIP-Seq_MCF-7_Human0.96089711
80PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.96088745
81YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95404569
82ARNT_22903824_ChIP-Seq_MCF-7_Human0.95262397
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95010382
84AR_25329375_ChIP-Seq_VCAP_Human0.94996881
85TCF4_23295773_ChIP-Seq_U87_Human0.93140916
86* LXR_22292898_ChIP-Seq_THP-1_Human0.93030504
87KDM2B_26808549_Chip-Seq_JURKAT_Human0.92108689
88RNF2_27304074_Chip-Seq_NSC_Mouse0.91616607
89* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.91362986
90* OCT4_19829295_ChIP-Seq_ESCs_Human0.91122312
91SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90792928
92TP53_20018659_ChIP-ChIP_R1E_Mouse0.90325568
93SRY_22984422_ChIP-ChIP_TESTIS_Rat0.90162646
94KLF4_19829295_ChIP-Seq_ESCs_Human0.89885905
95* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.89233654
96* SMAD3_21741376_ChIP-Seq_HESCs_Human0.88579745
97CREB1_26743006_Chip-Seq_LNCaP_Human0.88555334
98ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88023578
99ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.87442746
100* SMAD4_21741376_ChIP-Seq_HESCs_Human0.87310058
101TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.86682842
102* DPY_21335234_ChIP-Seq_ESCs_Mouse0.86353084
103* TP53_23651856_ChIP-Seq_MEFs_Mouse0.86001815
104ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.85050850
105* CTCF_27219007_Chip-Seq_Bcells_Human0.84810844
106CBX2_27304074_Chip-Seq_ESCs_Mouse0.84089436
107SMC4_20622854_ChIP-Seq_HELA_Human0.84001853
108RUNX1_26923725_Chip-Seq_HPCs_Mouse0.83936222
109SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.83349865
110SMAD3_21741376_ChIP-Seq_EPCs_Human0.80148820
111EGR1_19032775_ChIP-ChIP_M12_Human0.79971086
112TBX20_22328084_ChIP-Seq_HEART_Mouse0.79940783
113TBX20_22080862_ChIP-Seq_HEART_Mouse0.79940783
114OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.79025476
115ISL1_27105846_Chip-Seq_CPCs_Mouse0.78912163
116TAF15_26573619_Chip-Seq_HEK293_Human0.78113122
117RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.77775309
118CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.77213899
119ESR2_21235772_ChIP-Seq_MCF-7_Human0.76885921
120SMAD4_21741376_ChIP-Seq_EPCs_Human0.76462072
121UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.76346796
122EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.76002435
123CDX2_19796622_ChIP-Seq_MESCs_Mouse0.75918746
124TOP2B_26459242_ChIP-Seq_MCF-7_Human0.74814084
125MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.72610253
126SMAD4_21741376_ChIP-Seq_ESCs_Human0.71416897

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.81884187
2MP0003635_abnormal_synaptic_transmissio4.38903210
3MP0009046_muscle_twitch4.15219483
4MP0003880_abnormal_central_pattern3.85715533
5MP0004270_analgesia3.71396368
6MP0009745_abnormal_behavioral_response3.51189688
7MP0002064_seizures3.39294467
8MP0002063_abnormal_learning/memory/cond3.24625718
9MP0005423_abnormal_somatic_nervous3.02828129
10MP0001968_abnormal_touch/_nociception3.01598126
11MP0002272_abnormal_nervous_system2.83253155
12MP0002572_abnormal_emotion/affect_behav2.76822588
13MP0002734_abnormal_mechanical_nocicepti2.71817038
14MP0008569_lethality_at_weaning2.65000427
15MP0001486_abnormal_startle_reflex2.48879987
16MP0002736_abnormal_nociception_after2.36338943
17MP0001501_abnormal_sleep_pattern2.33124740
18MP0002735_abnormal_chemical_nociception2.26881693
19MP0002822_catalepsy2.26795393
20MP0001440_abnormal_grooming_behavior2.25139139
21MP0002067_abnormal_sensory_capabilities2.23437015
22MP0002733_abnormal_thermal_nociception2.14297537
23MP0003329_amyloid_beta_deposits2.10483287
24MP0004145_abnormal_muscle_electrophysio2.03356222
25MP0001970_abnormal_pain_threshold2.02935462
26MP0002184_abnormal_innervation1.97082468
27MP0002909_abnormal_adrenal_gland1.92416252
28MP0004858_abnormal_nervous_system1.86129313
29MP0002557_abnormal_social/conspecific_i1.80599136
30MP0004811_abnormal_neuron_physiology1.80096262
31MP0004924_abnormal_behavior1.72634023
32MP0005386_behavior/neurological_phenoty1.72634023
33MP0000955_abnormal_spinal_cord1.70902464
34MP0004142_abnormal_muscle_tone1.68429608
35MP0004885_abnormal_endolymph1.67453634
36MP0003879_abnormal_hair_cell1.64525090
37MP0003633_abnormal_nervous_system1.57391234
38MP0002066_abnormal_motor_capabilities/c1.54312449
39MP0009780_abnormal_chondrocyte_physiolo1.51977666
40MP0003690_abnormal_glial_cell1.51854062
41MP0004084_abnormal_cardiac_muscle1.49574535
42MP0000749_muscle_degeneration1.47528511
43MP0003123_paternal_imprinting1.47351958
44MP0000778_abnormal_nervous_system1.43132574
45MP0004036_abnormal_muscle_relaxation1.42319163
46MP0003631_nervous_system_phenotype1.37429740
47MP0002882_abnormal_neuron_morphology1.36995991
48MP0003787_abnormal_imprinting1.35037191
49MP0001348_abnormal_lacrimal_gland1.31426977
50MP0003632_abnormal_nervous_system1.27980026
51MP0000569_abnormal_digit_pigmentation1.26228764
52MP0003172_abnormal_lysosome_physiology1.20298640
53MP0003075_altered_response_to1.15383474
54MP0001502_abnormal_circadian_rhythm1.14042937
55MP0005646_abnormal_pituitary_gland1.13447185
56MP0008961_abnormal_basal_metabolism1.12987243
57MP0000751_myopathy1.11272873
58MP0002152_abnormal_brain_morphology1.11149865
59MP0008872_abnormal_physiological_respon1.10523693
60MP0000604_amyloidosis1.09523921
61MP0004087_abnormal_muscle_fiber1.09472262
62MP0002229_neurodegeneration1.08985261
63MP0006276_abnormal_autonomic_nervous1.08697325
64MP0005645_abnormal_hypothalamus_physiol1.07375795
65MP0004147_increased_porphyrin_level1.04334757
66MP0000920_abnormal_myelination1.04139509
67MP0003283_abnormal_digestive_organ1.02607354
68MP0004510_myositis1.02574299
69MP0005167_abnormal_blood-brain_barrier1.02465970
70MP0008874_decreased_physiological_sensi1.01206163
71MP0003122_maternal_imprinting0.99824432
72MP0001984_abnormal_olfaction0.98280669
73MP0004130_abnormal_muscle_cell0.96045418
74MP0002106_abnormal_muscle_physiology0.95141380
75MP0000759_abnormal_skeletal_muscle0.92896356
76MP0003634_abnormal_glial_cell0.91606538
77MP0002837_dystrophic_cardiac_calcinosis0.89723780
78MP0002069_abnormal_eating/drinking_beha0.89611052
79MP0004742_abnormal_vestibular_system0.89307605
80MP0005620_abnormal_muscle_contractility0.88938024
81MP0001346_abnormal_lacrimal_gland0.87834670
82MP0003137_abnormal_impulse_conducting0.83613316
83MP0005369_muscle_phenotype0.83042047
84MP0002972_abnormal_cardiac_muscle0.82496648
85MP0005535_abnormal_body_temperature0.81258427
86MP0002089_abnormal_postnatal_growth/wei0.80464232
87MP0002249_abnormal_larynx_morphology0.80252734
88MP0001177_atelectasis0.79671450
89MP0004085_abnormal_heartbeat0.78178687
90MP0004215_abnormal_myocardial_fiber0.77552690
91MP0003045_fibrosis0.77414674
92MP0005409_darkened_coat_color0.77315998
93MP0000747_muscle_weakness0.76881065
94MP0004484_altered_response_of0.76426222
95MP0002269_muscular_atrophy0.74752645
96MP0000013_abnormal_adipose_tissue0.72568754
97MP0001963_abnormal_hearing_physiology0.71045243
98MP0004233_abnormal_muscle_weight0.70740793
99MP0001905_abnormal_dopamine_level0.69046284
100MP0002090_abnormal_vision0.68835144
101MP0005330_cardiomyopathy0.65988809
102MP0000579_abnormal_nail_morphology0.65985146
103MP0010630_abnormal_cardiac_muscle0.63768033
104MP0000750_abnormal_muscle_regeneration0.62317449
105MP0005551_abnormal_eye_electrophysiolog0.61320898
106MP0010769_abnormal_survival0.60152325
107MP0002752_abnormal_somatic_nervous0.59515464
108MP0005623_abnormal_meninges_morphology0.59314038
109MP0010768_mortality/aging0.56387290
110MP0010770_preweaning_lethality0.55312837
111MP0002082_postnatal_lethality0.55312837
112MP0001529_abnormal_vocalization0.55126488
113MP0005166_decreased_susceptibility_to0.53776186
114MP0001943_abnormal_respiration0.53425758
115MP0001299_abnormal_eye_distance/0.53149092
116MP0003956_abnormal_body_size0.51182010
117MP0002638_abnormal_pupillary_reflex0.48356825
118MP0010234_abnormal_vibrissa_follicle0.47713045
119MP0003861_abnormal_nervous_system0.46742387
120MP0001485_abnormal_pinna_reflex0.46482790
121MP0001188_hyperpigmentation0.46384643
122MP0003303_peritoneal_inflammation0.44211993

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.53512195
2Myokymia (HP:0002411)6.52680862
3Action tremor (HP:0002345)5.90611713
4Visual hallucinations (HP:0002367)5.86783598
5Focal seizures (HP:0007359)5.51083121
6Progressive cerebellar ataxia (HP:0002073)5.36929095
7Febrile seizures (HP:0002373)4.39739955
8Atonic seizures (HP:0010819)4.25250884
9Gaze-evoked nystagmus (HP:0000640)4.23238691
10Mutism (HP:0002300)4.14678800
11Epileptic encephalopathy (HP:0200134)4.13685285
12Dysdiadochokinesis (HP:0002075)3.86224017
13Hemiplegia (HP:0002301)3.82598609
14Absence seizures (HP:0002121)3.75493875
15Supranuclear gaze palsy (HP:0000605)3.69431294
16Impaired smooth pursuit (HP:0007772)3.65705091
17Abnormality of the lower motor neuron (HP:0002366)3.65292477
18Dysmetric saccades (HP:0000641)3.57941298
19Generalized tonic-clonic seizures (HP:0002069)3.54719898
20Broad-based gait (HP:0002136)3.50442748
21Intention tremor (HP:0002080)3.50142843
22Scanning speech (HP:0002168)3.45290931
23Poor eye contact (HP:0000817)3.43964980
24Depression (HP:0000716)3.42303451
25Dysmetria (HP:0001310)3.41394303
26Abnormality of ocular smooth pursuit (HP:0000617)3.40475795
27Genetic anticipation (HP:0003743)3.40358934
28Truncal ataxia (HP:0002078)3.36653116
29Postural instability (HP:0002172)3.35960031
30Dialeptic seizures (HP:0011146)3.35741307
31Abnormality of binocular vision (HP:0011514)3.34952956
32Diplopia (HP:0000651)3.34952956
33Ankle clonus (HP:0011448)3.24483350
34Sudden death (HP:0001699)3.15324660
35Abnormal social behavior (HP:0012433)3.11935002
36Impaired social interactions (HP:0000735)3.11935002
37Hemiparesis (HP:0001269)3.08782863
38Impaired vibration sensation in the lower limbs (HP:0002166)3.05151741
39Annular pancreas (HP:0001734)3.04357464
40Abnormal eating behavior (HP:0100738)3.01319662
41Papilledema (HP:0001085)3.00061856
42Ventricular fibrillation (HP:0001663)2.98880966
43Hyporeflexia of lower limbs (HP:0002600)2.90759070
44Neuronal loss in central nervous system (HP:0002529)2.89090198
45Exercise-induced muscle cramps (HP:0003710)2.88265150
46Anxiety (HP:0000739)2.88209958
47Urinary bladder sphincter dysfunction (HP:0002839)2.83622897
48Cerebral hypomyelination (HP:0006808)2.80459872
49Status epilepticus (HP:0002133)2.79658540
50Fetal akinesia sequence (HP:0001989)2.74914896
51Muscle fiber inclusion bodies (HP:0100299)2.64086738
52Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.63010775
53Amyotrophic lateral sclerosis (HP:0007354)2.62630590
54Nemaline bodies (HP:0003798)2.61860094
55Pointed chin (HP:0000307)2.61455040
56Tetraplegia (HP:0002445)2.61361981
57Type 1 muscle fiber predominance (HP:0003803)2.60394335
58Heart block (HP:0012722)2.59780755
59Exercise-induced myalgia (HP:0003738)2.56306961
60Lower limb amyotrophy (HP:0007210)2.53159966
61Postural tremor (HP:0002174)2.53117136
62Lower limb asymmetry (HP:0100559)2.50673430
63Spastic gait (HP:0002064)2.49990425
64Abnormal atrioventricular conduction (HP:0005150)2.44696299
65EMG: neuropathic changes (HP:0003445)2.43677712
66Stereotypic behavior (HP:0000733)2.40357999
67Abnormality of saccadic eye movements (HP:0000570)2.38832942
68Bundle branch block (HP:0011710)2.38491513
69Bradykinesia (HP:0002067)2.38089573
70Inappropriate behavior (HP:0000719)2.37980556
71Neurofibrillary tangles (HP:0002185)2.36286451
72Muscle fiber splitting (HP:0003555)2.32616864
73Urinary urgency (HP:0000012)2.32252675
74Abnormality of the corticospinal tract (HP:0002492)2.27347978
75Horizontal nystagmus (HP:0000666)2.25264963
76Insomnia (HP:0100785)2.24895817
77Torticollis (HP:0000473)2.22569374
78Peripheral hypomyelination (HP:0007182)2.22190471
79Excessive salivation (HP:0003781)2.21440887
80Drooling (HP:0002307)2.21440887
81Cerebral inclusion bodies (HP:0100314)2.20796636
82Agitation (HP:0000713)2.20475322
83Apathy (HP:0000741)2.18071328
84Progressive inability to walk (HP:0002505)2.16848357
85Obstructive sleep apnea (HP:0002870)2.16361579
86Sleep apnea (HP:0010535)2.16293176
87Cholecystitis (HP:0001082)2.16138151
88Abnormal gallbladder physiology (HP:0012438)2.16138151
89Craniofacial dystonia (HP:0012179)2.14775494
90Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.13836349
91Distal arthrogryposis (HP:0005684)2.13736253
92Abnormality of the foot musculature (HP:0001436)2.13301710
93Abnormality of the left ventricular outflow tract (HP:0011103)2.13102294
94Subaortic stenosis (HP:0001682)2.13102294
95Foot dorsiflexor weakness (HP:0009027)2.12576416
96Gait ataxia (HP:0002066)2.11983938
97Limb ataxia (HP:0002070)2.11800196
98Atrial fibrillation (HP:0005110)2.10793732
99EMG: myopathic abnormalities (HP:0003458)2.07388044
100Prolonged QT interval (HP:0001657)2.06880888
101Focal dystonia (HP:0004373)2.04911457
102Psychosis (HP:0000709)2.03932110
103Clonus (HP:0002169)2.02984427
104Primary atrial arrhythmia (HP:0001692)2.02837063
105Myopathic facies (HP:0002058)2.00734947
106Impaired vibratory sensation (HP:0002495)2.00022805
107Atrioventricular block (HP:0001678)1.99992252
108Round ear (HP:0100830)1.98645782
109Rapidly progressive (HP:0003678)1.98163295
110Amblyopia (HP:0000646)1.95200873
111Syncope (HP:0001279)1.93989410
112Supraventricular tachycardia (HP:0004755)1.93607721
113Difficulty running (HP:0009046)1.92806523
114Myotonia (HP:0002486)1.91747371
115Lower limb muscle weakness (HP:0007340)1.91549279
116Diminished motivation (HP:0000745)1.88676778
117Akinesia (HP:0002304)1.87240418
118Upper limb amyotrophy (HP:0009129)1.86527319
119Distal upper limb amyotrophy (HP:0007149)1.86527319
120Aqueductal stenosis (HP:0002410)1.85918366
121Rigidity (HP:0002063)1.84553199
122Morphological abnormality of the pyramidal tract (HP:0002062)1.84356241
123Pheochromocytoma (HP:0002666)1.84294388
124Limb dystonia (HP:0002451)1.83551795
125Termporal pattern (HP:0011008)1.83337040
126Insidious onset (HP:0003587)1.83337040
127Incomplete penetrance (HP:0003829)1.83321059
128Polyphagia (HP:0002591)1.79597835
129EEG with generalized epileptiform discharges (HP:0011198)1.78900837
130Epileptiform EEG discharges (HP:0011182)1.78198038
131Absent speech (HP:0001344)1.77723837
132Abnormal EKG (HP:0003115)1.77675221
133Generalized myoclonic seizures (HP:0002123)1.77652737
134Slow progression (HP:0003677)1.77322563
135Hand muscle atrophy (HP:0009130)1.76710666

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.36002804
2NTRK34.18451342
3MINK13.00304401
4MARK12.82806479
5EPHA42.80000812
6CAMKK12.75598116
7CAMKK22.66009628
8MAP3K42.63691250
9RIPK42.38985333
10PAK62.27993670
11DAPK22.27012715
12NTRK22.22058552
13STK382.09999333
14MAP2K42.04136277
15KSR21.91851094
16MAP2K71.84398795
17RIPK11.82800750
18SIK21.72459871
19OBSCN1.69148105
20PRKD31.67577615
21NTRK11.66968698
22CDK51.48536313
23GRK51.47097241
24FES1.42452692
25WNK11.35090582
26CDK191.29293772
27ALK1.28705354
28PNCK1.28204249
29TYRO31.26345177
30CASK1.21687600
31STK111.21312519
32PRKCG1.20780771
33KSR11.20195451
34PRPF4B1.18101998
35MAP3K121.15542112
36DAPK11.13330733
37CDK151.11729189
38PHKG11.10008621
39PHKG21.10008621
40CAMK11.08649275
41MAPK131.08441250
42CDK181.08402817
43CAMK1G1.06400626
44UHMK11.04847019
45MAP3K131.01632707
46CDK11A0.98758148
47RET0.97446160
48CDK140.97244558
49ARAF0.95574318
50PKN20.93864251
51PRKCH0.91685935
52PDK10.90789108
53PLK20.90027839
54SGK30.88769620
55TRIB30.87407327
56PINK10.87104102
57CAMK40.86516632
58LMTK20.85508683
59LATS20.85109348
60CDC42BPA0.84940319
61SGK4940.84591590
62SGK2230.84591590
63TNIK0.84402979
64SGK20.83942960
65TAOK10.82318292
66MAP3K20.80986193
67EEF2K0.79467684
68SCYL20.77407971
69PDPK10.74227902
70PAK30.74211816
71DYRK1A0.71993753
72PKN10.71188136
73CAMK2A0.71186742
74LIMK10.70412098
75FGFR20.70381849
76GRK70.68037033
77SGK10.67641988
78NEK10.64714736
79MAP3K60.63317184
80TTN0.62583302
81NEK60.62027792
82MARK20.59687108
83FYN0.57575029
84RPS6KA30.57095755
85TNK20.56713300
86MUSK0.56519569
87DMPK0.53541031
88BRAF0.53248541
89MAPK100.52832329
90CLK10.52674417
91DAPK30.52163141
92CAMK2G0.51621891
93CAMK2B0.51305570
94MAPK120.47684895
95RAF10.46383189
96PRKCZ0.46213853
97RPS6KA20.45128327
98ROCK10.44391079
99DDR20.43354754
100CAMK1D0.42216146
101MOS0.39550504
102BMPR20.38553587
103PTK2B0.36782570
104CAMK2D0.36440958
105MAP2K60.35498573
106OXSR10.35488428
107ROCK20.33825401
108ERBB20.33539495
109MAP3K10.33383832
110PRKAA10.33027017
111PRKACB0.32581613
112MAP3K70.32433340
113MAPK80.32418152
114PRKG10.32129810
115PDGFRA0.31758559
116MAPKAPK50.31672449
117MAP2K10.31172241
118BRSK10.30687411
119ICK0.29910978
120PRKD10.28512616
121MAPK40.27863967

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.73566887
2Synaptic vesicle cycle_Homo sapiens_hsa047213.07110994
3Long-term potentiation_Homo sapiens_hsa047202.77863286
4Glutamatergic synapse_Homo sapiens_hsa047242.70659348
5Circadian entrainment_Homo sapiens_hsa047132.67288524
6GABAergic synapse_Homo sapiens_hsa047272.65362337
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.62536869
8Olfactory transduction_Homo sapiens_hsa047402.50301122
9Morphine addiction_Homo sapiens_hsa050322.36610997
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.34710019
11Salivary secretion_Homo sapiens_hsa049702.22670465
12Amphetamine addiction_Homo sapiens_hsa050312.22302351
13Long-term depression_Homo sapiens_hsa047301.99296470
14Dopaminergic synapse_Homo sapiens_hsa047281.97089089
15Gastric acid secretion_Homo sapiens_hsa049711.93399503
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.92498996
17Cholinergic synapse_Homo sapiens_hsa047251.83754101
18Insulin secretion_Homo sapiens_hsa049111.78299738
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.77679946
20Taste transduction_Homo sapiens_hsa047421.77054430
21Oxytocin signaling pathway_Homo sapiens_hsa049211.63462586
22Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.57842487
23Calcium signaling pathway_Homo sapiens_hsa040201.54373440
24GnRH signaling pathway_Homo sapiens_hsa049121.50812004
25Renin secretion_Homo sapiens_hsa049241.48110935
26Phosphatidylinositol signaling system_Homo sapiens_hsa040701.47241092
27Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.46371605
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.45813070
29Cocaine addiction_Homo sapiens_hsa050301.40791796
30Serotonergic synapse_Homo sapiens_hsa047261.35644717
31Type II diabetes mellitus_Homo sapiens_hsa049301.33869438
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31479031
33Gap junction_Homo sapiens_hsa045401.29752858
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29336756
35cAMP signaling pathway_Homo sapiens_hsa040241.29019847
36Estrogen signaling pathway_Homo sapiens_hsa049151.28155297
37Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.25314095
38Nitrogen metabolism_Homo sapiens_hsa009101.23671795
39Pancreatic secretion_Homo sapiens_hsa049721.03453279
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01238550
41Glioma_Homo sapiens_hsa052140.99862756
42Phospholipase D signaling pathway_Homo sapiens_hsa040720.96331711
43Oocyte meiosis_Homo sapiens_hsa041140.94089287
44Neurotrophin signaling pathway_Homo sapiens_hsa047220.91670023
45Cardiac muscle contraction_Homo sapiens_hsa042600.91452618
46Vitamin B6 metabolism_Homo sapiens_hsa007500.90242785
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.90236720
48Thyroid hormone synthesis_Homo sapiens_hsa049180.89843786
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.89756112
50ErbB signaling pathway_Homo sapiens_hsa040120.86733299
51Carbohydrate digestion and absorption_Homo sapiens_hsa049730.85248375
52Melanogenesis_Homo sapiens_hsa049160.85234007
53Dilated cardiomyopathy_Homo sapiens_hsa054140.83541328
54Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.83188734
55Collecting duct acid secretion_Homo sapiens_hsa049660.82248824
56MAPK signaling pathway_Homo sapiens_hsa040100.80256988
57Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.79631434
58Dorso-ventral axis formation_Homo sapiens_hsa043200.79381949
59Inositol phosphate metabolism_Homo sapiens_hsa005620.78049373
60Axon guidance_Homo sapiens_hsa043600.77185156
612-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.76826399
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.76120612
63Vascular smooth muscle contraction_Homo sapiens_hsa042700.76050136
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75555138
65Choline metabolism in cancer_Homo sapiens_hsa052310.73873414
66VEGF signaling pathway_Homo sapiens_hsa043700.65880731
67Arginine and proline metabolism_Homo sapiens_hsa003300.65709881
68Endocytosis_Homo sapiens_hsa041440.65674034
69mTOR signaling pathway_Homo sapiens_hsa041500.64261706
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.63677477
71Bile secretion_Homo sapiens_hsa049760.63186594
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63002566
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.58757171
74HIF-1 signaling pathway_Homo sapiens_hsa040660.58227827
75Chemokine signaling pathway_Homo sapiens_hsa040620.57525041
76Prion diseases_Homo sapiens_hsa050200.57020814
77Arginine biosynthesis_Homo sapiens_hsa002200.56910987
78AMPK signaling pathway_Homo sapiens_hsa041520.56793076
79Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.55908380
80Rap1 signaling pathway_Homo sapiens_hsa040150.53707650
81Central carbon metabolism in cancer_Homo sapiens_hsa052300.53678593
82Tight junction_Homo sapiens_hsa045300.53259348
83Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.53251289
84Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.50341285
85Longevity regulating pathway - mammal_Homo sapiens_hsa042110.50291910
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.49799304
87Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.49635103
88Biosynthesis of amino acids_Homo sapiens_hsa012300.49345813
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48482724
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47342337
91Glucagon signaling pathway_Homo sapiens_hsa049220.46959164
92Non-small cell lung cancer_Homo sapiens_hsa052230.46614398
93Platelet activation_Homo sapiens_hsa046110.43389416
94Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42904242
95Ras signaling pathway_Homo sapiens_hsa040140.41923957
96Endometrial cancer_Homo sapiens_hsa052130.39784715
97Vibrio cholerae infection_Homo sapiens_hsa051100.38886767
98Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38525159
99Protein digestion and absorption_Homo sapiens_hsa049740.38141785
100Carbon metabolism_Homo sapiens_hsa012000.38014003
101Alcoholism_Homo sapiens_hsa050340.37004628
102Colorectal cancer_Homo sapiens_hsa052100.36463136
103Insulin signaling pathway_Homo sapiens_hsa049100.36326196
104Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35963389
105Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35962359
106Focal adhesion_Homo sapiens_hsa045100.35270879
107Renal cell carcinoma_Homo sapiens_hsa052110.35017295
108Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34414430
109Fructose and mannose metabolism_Homo sapiens_hsa000510.33849060
110Phototransduction_Homo sapiens_hsa047440.33486366
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.32028774
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.31917472
113Ovarian steroidogenesis_Homo sapiens_hsa049130.31007679
114Circadian rhythm_Homo sapiens_hsa047100.30984767
115Osteoclast differentiation_Homo sapiens_hsa043800.28471346
116Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28395933
117Wnt signaling pathway_Homo sapiens_hsa043100.27963687
118Lysosome_Homo sapiens_hsa041420.27012647
119Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.25396312

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