PPFIA3

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: The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.72447136
2locomotory exploration behavior (GO:0035641)6.35943713
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.06844709
4* regulation of short-term neuronal synaptic plasticity (GO:0048172)6.04766762
5vocalization behavior (GO:0071625)5.87337708
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.84270433
7synaptic vesicle exocytosis (GO:0016079)5.48861847
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.47037521
9glutamate secretion (GO:0014047)5.45954875
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.41498354
11regulation of synaptic vesicle exocytosis (GO:2000300)5.27602926
12regulation of glutamate receptor signaling pathway (GO:1900449)5.11828217
13protein localization to synapse (GO:0035418)4.89213445
14exploration behavior (GO:0035640)4.81664458
15layer formation in cerebral cortex (GO:0021819)4.80135287
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.76079102
17regulation of synaptic vesicle transport (GO:1902803)4.68753848
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.67735437
19dendritic spine morphogenesis (GO:0060997)4.65739316
20* regulation of neuronal synaptic plasticity (GO:0048168)4.65167088
21cerebellar granule cell differentiation (GO:0021707)4.62938199
22regulation of synapse structural plasticity (GO:0051823)4.58506997
23* neurotransmitter secretion (GO:0007269)4.53595911
24neuronal action potential propagation (GO:0019227)4.53376408
25neuron cell-cell adhesion (GO:0007158)4.28390771
26proline transport (GO:0015824)4.20361817
27synaptic transmission, glutamatergic (GO:0035249)4.19967315
28neurotransmitter-gated ion channel clustering (GO:0072578)4.13445581
29gamma-aminobutyric acid transport (GO:0015812)4.11426500
30cellular potassium ion homeostasis (GO:0030007)4.05253628
31positive regulation of membrane potential (GO:0045838)4.03688638
32glutamate receptor signaling pathway (GO:0007215)4.03565927
33long-term memory (GO:0007616)4.02721523
34regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.98427796
35sodium ion export (GO:0071436)3.96816656
36membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.93486933
37regulation of synapse maturation (GO:0090128)3.92978921
38neuron-neuron synaptic transmission (GO:0007270)3.85322114
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.85191433
40neuromuscular process controlling balance (GO:0050885)3.82111488
41cytoskeletal anchoring at plasma membrane (GO:0007016)3.80214949
42regulation of dendritic spine morphogenesis (GO:0061001)3.79315172
43potassium ion homeostasis (GO:0055075)3.78199921
44amino acid import (GO:0043090)3.73234500
45auditory behavior (GO:0031223)3.70930612
46establishment of mitochondrion localization (GO:0051654)3.70718512
47activation of protein kinase A activity (GO:0034199)3.70661848
48positive regulation of synapse maturation (GO:0090129)3.67828558
49regulation of postsynaptic membrane potential (GO:0060078)3.64928890
50* regulation of synaptic plasticity (GO:0048167)3.63176129
51* neurotransmitter transport (GO:0006836)3.61221320
52negative regulation of dendrite morphogenesis (GO:0050774)3.59356604
53regulation of neurotransmitter secretion (GO:0046928)3.53759466
54positive regulation of synaptic transmission, GABAergic (GO:0032230)3.50349179
55response to auditory stimulus (GO:0010996)3.50336662
56positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.49189492
57glycine transport (GO:0015816)3.48658899
58transmission of nerve impulse (GO:0019226)3.47534648
59synaptic vesicle endocytosis (GO:0048488)3.47489962
60neuron recognition (GO:0008038)3.43962736
61regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.41853229
62neuromuscular process controlling posture (GO:0050884)3.41422797
63G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.37540487
64mitochondrion transport along microtubule (GO:0047497)3.37406387
65establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.37406387
66positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.36845549
67dendritic spine organization (GO:0097061)3.36306693
68dendrite morphogenesis (GO:0048813)3.35267480
69prepulse inhibition (GO:0060134)3.34434451
70positive regulation of neurotransmitter secretion (GO:0001956)3.34268358
71neuronal ion channel clustering (GO:0045161)3.33832904
72* regulation of neurotransmitter levels (GO:0001505)3.33543086
73cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.32535072
74cerebellar Purkinje cell differentiation (GO:0021702)3.31087172
75regulation of ARF protein signal transduction (GO:0032012)3.29746140
76positive regulation of neurotransmitter transport (GO:0051590)3.29163174
77long-term synaptic potentiation (GO:0060291)3.28292399
78regulation of neurotransmitter transport (GO:0051588)3.26932213
79regulation of synaptic transmission, glutamatergic (GO:0051966)3.25993660
80cell communication by electrical coupling (GO:0010644)3.25943853
81regulation of vesicle fusion (GO:0031338)3.25215552
82axonal fasciculation (GO:0007413)3.24804968
83central nervous system myelination (GO:0022010)3.24107792
84axon ensheathment in central nervous system (GO:0032291)3.24107792
85postsynaptic membrane organization (GO:0001941)3.22843001
86positive regulation of dendritic spine development (GO:0060999)3.22643644
87regulation of dendritic spine development (GO:0060998)3.17943510
88membrane depolarization (GO:0051899)3.16331459
89potassium ion import (GO:0010107)3.15790242
90membrane depolarization during action potential (GO:0086010)3.14793821
91vesicle transport along microtubule (GO:0047496)3.14199564
92membrane hyperpolarization (GO:0060081)3.13559176
93mating behavior (GO:0007617)3.13291457
94innervation (GO:0060384)3.12708027
95L-amino acid import (GO:0043092)3.12143982
96cellular sodium ion homeostasis (GO:0006883)3.11680774
97gamma-aminobutyric acid signaling pathway (GO:0007214)3.10836689
98neuromuscular process (GO:0050905)3.09046919
99regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.06816024
100positive regulation of dendritic spine morphogenesis (GO:0061003)3.06809496
101learning (GO:0007612)3.06241766
102intraspecies interaction between organisms (GO:0051703)3.05474372
103social behavior (GO:0035176)3.05474372
104chemosensory behavior (GO:0007635)3.04592325
105positive regulation of synaptic transmission (GO:0050806)3.03483691
106positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.01300728
107cell migration in hindbrain (GO:0021535)3.00807460
108neuromuscular synaptic transmission (GO:0007274)2.99302874
109* regulation of synaptic transmission (GO:0050804)2.98822908
110positive regulation of dendrite development (GO:1900006)2.97355357
111adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.96784176
112synapse assembly (GO:0007416)2.95697998
113regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.93254210
114regulation of voltage-gated calcium channel activity (GO:1901385)2.93071786
115dopamine receptor signaling pathway (GO:0007212)2.92324183
116negative regulation of synaptic transmission, GABAergic (GO:0032229)2.91889353
117synaptic transmission (GO:0007268)2.91387333
118cerebellar Purkinje cell layer development (GO:0021680)2.91376789
119regulation of dendrite morphogenesis (GO:0048814)2.91322628
120cell differentiation in hindbrain (GO:0021533)2.91272705
121synaptic vesicle transport (GO:0048489)2.91270439
122establishment of synaptic vesicle localization (GO:0097480)2.91270439
123negative regulation of microtubule polymerization (GO:0031115)2.86340433
124dicarboxylic acid transport (GO:0006835)2.81082144

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.84645772
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12222549
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10870761
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05229082
5RARB_27405468_Chip-Seq_BRAIN_Mouse2.89689635
6REST_21632747_ChIP-Seq_MESCs_Mouse2.85084822
7GBX2_23144817_ChIP-Seq_PC3_Human2.82950621
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.82491521
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.82491521
10DROSHA_22980978_ChIP-Seq_HELA_Human2.81410078
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.75482393
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.61478184
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.60302475
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59113253
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.54119191
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.51105563
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45465099
18IKZF1_21737484_ChIP-ChIP_HCT116_Human2.44877129
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.41613515
20TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.41480118
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.40698759
22EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.39552204
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.38695219
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.34815146
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.30437456
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.21617385
27LXR_22292898_ChIP-Seq_THP-1_Human2.21092889
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.07612723
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.02619365
30ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.94681866
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.90507942
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.84129724
33AR_21572438_ChIP-Seq_LNCaP_Human1.80860095
34SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.65350494
35SRY_22984422_ChIP-ChIP_TESTIS_Rat1.59919147
36ESR2_21235772_ChIP-Seq_MCF-7_Human1.55954388
37SMC4_20622854_ChIP-Seq_HELA_Human1.55512097
38P68_20966046_ChIP-Seq_HELA_Human1.53621561
39CREB1_26743006_Chip-Seq_LNCaP_Human1.52103499
40RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.47494415
41GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.46668890
42TET1_21451524_ChIP-Seq_MESCs_Mouse1.44465775
43KDM2B_26808549_Chip-Seq_K562_Human1.44317627
44* RING1B_27294783_Chip-Seq_ESCs_Mouse1.43333891
45* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.41980413
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41512966
47CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41152867
48* KDM2B_26808549_Chip-Seq_DND41_Human1.40652073
49RACK7_27058665_Chip-Seq_MCF-7_Human1.40424974
50ZFP281_18757296_ChIP-ChIP_E14_Mouse1.38751215
51SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.38133315
52SMAD4_21799915_ChIP-Seq_A2780_Human1.37359951
53TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.29688502
54UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.29099834
55* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.28920965
56WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.28277854
57SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.28268770
58KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.26631442
59ZNF274_21170338_ChIP-Seq_K562_Hela1.24457446
60WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24379149
61CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.23934258
62CTBP1_25329375_ChIP-Seq_LNCAP_Human1.23279890
63* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.22984349
64ESR1_15608294_ChIP-ChIP_MCF-7_Human1.22602161
65MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.22544597
66SOX2_21211035_ChIP-Seq_LN229_Gbm1.21780433
67AR_19668381_ChIP-Seq_PC3_Human1.21355797
68PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.21134209
69NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19106041
70* RING1B_27294783_Chip-Seq_NPCs_Mouse1.19092977
71SMAD_19615063_ChIP-ChIP_OVARY_Human1.16892690
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16767457
73GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.15336521
74SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.15335531
75CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.13567687
76PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.12793744
77SA1_27219007_Chip-Seq_ERYTHROID_Human1.12484139
78RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.11763316
79SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.11357612
80ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.11046882
81RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.10731103
82KDM2B_26808549_Chip-Seq_JURKAT_Human1.09850421
83OCT4_19829295_ChIP-Seq_ESCs_Human1.08575140
84GATA1_26923725_Chip-Seq_HPCs_Mouse1.07081317
85ZFP281_27345836_Chip-Seq_ESCs_Mouse1.06472502
86SMAD3_21741376_ChIP-Seq_EPCs_Human1.06406341
87AR_25329375_ChIP-Seq_VCAP_Human1.05587823
88P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05516421
89CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.05046936
90ZNF263_19887448_ChIP-Seq_K562_Human1.04229866
91CTCF_27219007_Chip-Seq_ERYTHROID_Human1.04082398
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01965787
93TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01928936
94STAT3_23295773_ChIP-Seq_U87_Human1.01465805
95CTCF_27219007_Chip-Seq_Bcells_Human1.00899691
96ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00558312
97YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99127862
98CBX2_27304074_Chip-Seq_ESCs_Mouse0.98014554
99TAF15_26573619_Chip-Seq_HEK293_Human0.96955152
100TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96863967
101TET1_21490601_ChIP-Seq_MESCs_Mouse0.96082090
102TCF7_22412390_ChIP-Seq_EML_Mouse0.95608427
103P300_19829295_ChIP-Seq_ESCs_Human0.94702603
104TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94349832
105NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.94132448
106SMAD3_21741376_ChIP-Seq_ESCs_Human0.93813763
107SMAD3_21741376_ChIP-Seq_HESCs_Human0.93775733
108VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93720665
109TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.93578040
110ARNT_22903824_ChIP-Seq_MCF-7_Human0.92477690
111AHR_22903824_ChIP-Seq_MCF-7_Human0.92212212
112KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92160413
113TOP2B_26459242_ChIP-Seq_MCF-7_Human0.91998672
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.91996060
115SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.90792961
116SOX3_22085726_ChIP-Seq_NPCs_Mouse0.90633007
117NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.90023894
118MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.89540925
119RUNX1_26923725_Chip-Seq_HPCs_Mouse0.88299041
120TCF4_23295773_ChIP-Seq_U87_Human0.88100402
121THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.87622068
122OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87105269
123BMI1_23680149_ChIP-Seq_NPCS_Mouse0.86497483
124RXR_22108803_ChIP-Seq_LS180_Human0.86196436
125ZFP57_27257070_Chip-Seq_ESCs_Mouse0.85834992
126EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.85744537
127* RNF2_27304074_Chip-Seq_NSC_Mouse0.84485000
128JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.84167846
129KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.83802757
130DPY_21335234_ChIP-Seq_ESCs_Mouse0.83206666
131PKCTHETA_26484144_Chip-Seq_BREAST_Human0.82760674
132SA1_27219007_Chip-Seq_Bcells_Human0.82351278
133ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.82334561
134POU5F1_16518401_ChIP-PET_MESCs_Mouse0.82128557
135PIAS1_25552417_ChIP-Seq_VCAP_Human0.81838768
136GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81414044
137SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.81051987
138TP53_20018659_ChIP-ChIP_R1E_Mouse0.80624457
139TP53_16413492_ChIP-PET_HCT116_Human0.80348659
140KLF4_19829295_ChIP-Seq_ESCs_Human0.79427151
141OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.79373206
142PRDM14_20953172_ChIP-Seq_ESCs_Human0.79124857
143SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78734325
144* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.77486469

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.32120809
2MP0003880_abnormal_central_pattern4.60010766
3MP0003635_abnormal_synaptic_transmissio4.34106216
4MP0004270_analgesia3.99108216
5MP0002063_abnormal_learning/memory/cond3.46834947
6MP0009745_abnormal_behavioral_response3.45674720
7MP0002064_seizures3.20297226
8MP0002822_catalepsy3.19882955
9MP0009046_muscle_twitch3.12613327
10MP0001968_abnormal_touch/_nociception3.02687967
11MP0005423_abnormal_somatic_nervous3.01601156
12MP0002734_abnormal_mechanical_nocicepti2.77576982
13MP0002572_abnormal_emotion/affect_behav2.75715203
14MP0001486_abnormal_startle_reflex2.57791897
15MP0002272_abnormal_nervous_system2.55295952
16MP0001501_abnormal_sleep_pattern2.37805174
17MP0002736_abnormal_nociception_after2.24860179
18MP0004858_abnormal_nervous_system2.15555322
19MP0003123_paternal_imprinting2.14741928
20MP0002733_abnormal_thermal_nociception2.09548159
21MP0002735_abnormal_chemical_nociception2.07690173
22MP0009780_abnormal_chondrocyte_physiolo2.07036202
23MP0001440_abnormal_grooming_behavior2.05344073
24MP0008569_lethality_at_weaning2.03852640
25MP0001970_abnormal_pain_threshold2.02059331
26MP0004811_abnormal_neuron_physiology1.93486663
27MP0003329_amyloid_beta_deposits1.91023929
28MP0002067_abnormal_sensory_capabilities1.84761018
29MP0002909_abnormal_adrenal_gland1.79974158
30MP0000778_abnormal_nervous_system1.78361496
31MP0002184_abnormal_innervation1.76964916
32MP0002557_abnormal_social/conspecific_i1.73660026
33MP0003879_abnormal_hair_cell1.67926355
34MP0004924_abnormal_behavior1.67157382
35MP0005386_behavior/neurological_phenoty1.67157382
36MP0000955_abnormal_spinal_cord1.63887198
37MP0004885_abnormal_endolymph1.59294474
38MP0003283_abnormal_digestive_organ1.48360292
39MP0002882_abnormal_neuron_morphology1.44011452
40MP0003633_abnormal_nervous_system1.43341595
41MP0002066_abnormal_motor_capabilities/c1.42667063
42MP0005409_darkened_coat_color1.41782992
43MP0005646_abnormal_pituitary_gland1.40356506
44MP0001346_abnormal_lacrimal_gland1.35782620
45MP0001984_abnormal_olfaction1.35213981
46MP0006276_abnormal_autonomic_nervous1.31189953
47MP0005645_abnormal_hypothalamus_physiol1.26790163
48MP0003787_abnormal_imprinting1.25994227
49MP0001502_abnormal_circadian_rhythm1.23267287
50MP0003075_altered_response_to1.19521065
51MP0003631_nervous_system_phenotype1.17445561
52MP0002249_abnormal_larynx_morphology1.17210849
53MP0000569_abnormal_digit_pigmentation1.16257663
54MP0000579_abnormal_nail_morphology1.14368840
55MP0001348_abnormal_lacrimal_gland1.12413648
56MP0002152_abnormal_brain_morphology1.10646127
57MP0000566_synostosis1.09313069
58MP0005167_abnormal_blood-brain_barrier1.09287058
59MP0008961_abnormal_basal_metabolism1.08085464
60MP0004142_abnormal_muscle_tone1.08062124
61MP0010234_abnormal_vibrissa_follicle1.05175225
62MP0008872_abnormal_physiological_respon1.01058434
63MP0001905_abnormal_dopamine_level0.99702634
64MP0001177_atelectasis0.98834894
65MP0003690_abnormal_glial_cell0.97969544
66MP0003121_genomic_imprinting0.96156374
67MP0002069_abnormal_eating/drinking_beha0.96095477
68MP0001529_abnormal_vocalization0.93774832
69MP0008874_decreased_physiological_sensi0.93707753
70MP0002229_neurodegeneration0.92831519
71MP0003122_maternal_imprinting0.91847898
72MP0003705_abnormal_hypodermis_morpholog0.91288614
73MP0003634_abnormal_glial_cell0.88201060
74MP0000751_myopathy0.87375480
75MP0000604_amyloidosis0.86741394
76MP0000920_abnormal_myelination0.86473510
77MP0002089_abnormal_postnatal_growth/wei0.84831122
78MP0004742_abnormal_vestibular_system0.83942759
79MP0010386_abnormal_urinary_bladder0.83837782
80MP0005499_abnormal_olfactory_system0.81051704
81MP0005394_taste/olfaction_phenotype0.81051704
82MP0003632_abnormal_nervous_system0.80818565
83MP0004145_abnormal_muscle_electrophysio0.80731611
84MP0002090_abnormal_vision0.79227424
85MP0005551_abnormal_eye_electrophysiolog0.78277982
86MP0000537_abnormal_urethra_morphology0.78025021
87MP0005535_abnormal_body_temperature0.77391416
88MP0001188_hyperpigmentation0.74274284
89MP0000678_abnormal_parathyroid_gland0.74243566
90MP0009672_abnormal_birth_weight0.74017420
91MP0003172_abnormal_lysosome_physiology0.71971007
92MP0001963_abnormal_hearing_physiology0.70329816
93MP0000013_abnormal_adipose_tissue0.69429749
94MP0004085_abnormal_heartbeat0.69264633
95MP0004510_myositis0.67421368
96MP0002752_abnormal_somatic_nervous0.67353777
97MP0003938_abnormal_ear_development0.67336657
98MP0002082_postnatal_lethality0.66721133
99MP0000631_abnormal_neuroendocrine_gland0.64440824
100MP0005187_abnormal_penis_morphology0.61465369
101MP0002081_perinatal_lethality0.60925981
102MP0005623_abnormal_meninges_morphology0.60439026
103MP0003137_abnormal_impulse_conducting0.59929009
104MP0001664_abnormal_digestion0.59650453
105MP0001299_abnormal_eye_distance/0.58476282
106MP0003861_abnormal_nervous_system0.56390199
107MP0005166_decreased_susceptibility_to0.55641350
108MP0003956_abnormal_body_size0.55455089
109MP0001731_abnormal_postnatal_growth0.54747208
110MP0004484_altered_response_of0.54238510
111MP0002638_abnormal_pupillary_reflex0.52957413
112MP0010769_abnormal_survival0.52805994
113MP0001943_abnormal_respiration0.52594737
114MP0000026_abnormal_inner_ear0.52450428
115MP0001485_abnormal_pinna_reflex0.52286277
116MP0004233_abnormal_muscle_weight0.51745091
117MP0000681_abnormal_thyroid_gland0.51504804
118MP0000747_muscle_weakness0.49268815
119MP0003303_peritoneal_inflammation0.49253139
120MP0010768_mortality/aging0.48991135
121MP0010770_preweaning_lethality0.48977169
122MP0002873_normal_phenotype0.48889161
123MP0002169_no_abnormal_phenotype0.47833190
124MP0000534_abnormal_ureter_morphology0.47581616
125MP0005171_absent_coat_pigmentation0.47367917

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.03795671
2Focal motor seizures (HP:0011153)7.23417165
3Focal seizures (HP:0007359)5.77900182
4Visual hallucinations (HP:0002367)5.45636291
5Epileptic encephalopathy (HP:0200134)4.50776479
6Action tremor (HP:0002345)4.42000165
7Progressive cerebellar ataxia (HP:0002073)4.26133042
8Febrile seizures (HP:0002373)4.15986193
9Atonic seizures (HP:0010819)4.08676452
10Supranuclear gaze palsy (HP:0000605)4.06624214
11Ankle clonus (HP:0011448)4.00866327
12Absence seizures (HP:0002121)3.91077364
13Generalized tonic-clonic seizures (HP:0002069)3.80623296
14Broad-based gait (HP:0002136)3.59881607
15Dialeptic seizures (HP:0011146)3.51740039
16Poor eye contact (HP:0000817)3.51184552
17Mutism (HP:0002300)3.51175045
18Papilledema (HP:0001085)3.48005046
19Impaired vibration sensation in the lower limbs (HP:0002166)3.47713295
20Depression (HP:0000716)3.40779604
21Urinary bladder sphincter dysfunction (HP:0002839)3.37905309
22Gaze-evoked nystagmus (HP:0000640)3.23521285
23Dysdiadochokinesis (HP:0002075)3.22620920
24Impaired social interactions (HP:0000735)3.20321142
25Abnormal social behavior (HP:0012433)3.20321142
26Postural instability (HP:0002172)3.18008167
27Abnormality of the lower motor neuron (HP:0002366)3.14798732
28Dysmetria (HP:0001310)3.11359018
29Anxiety (HP:0000739)3.00087684
30Torticollis (HP:0000473)3.00032039
31Abnormal eating behavior (HP:0100738)2.98873152
32Urinary urgency (HP:0000012)2.95612144
33Cerebral hypomyelination (HP:0006808)2.90190354
34Genetic anticipation (HP:0003743)2.85352948
35Amblyopia (HP:0000646)2.84522917
36Ventricular fibrillation (HP:0001663)2.82798231
37Truncal ataxia (HP:0002078)2.81710013
38Intention tremor (HP:0002080)2.81181103
39Impaired smooth pursuit (HP:0007772)2.75803536
40Spastic gait (HP:0002064)2.74724933
41Focal dystonia (HP:0004373)2.72543471
42Megalencephaly (HP:0001355)2.71071719
43Hemiparesis (HP:0001269)2.68955498
44Hemiplegia (HP:0002301)2.66433047
45Tetraplegia (HP:0002445)2.66020382
46Annular pancreas (HP:0001734)2.65777275
47Neurofibrillary tangles (HP:0002185)2.65208932
48Diplopia (HP:0000651)2.59004278
49Abnormality of binocular vision (HP:0011514)2.59004278
50Stereotypic behavior (HP:0000733)2.56611726
51Insomnia (HP:0100785)2.55789796
52Cerebral inclusion bodies (HP:0100314)2.52753493
53Bradykinesia (HP:0002067)2.50475408
54Hyperventilation (HP:0002883)2.47768883
55Pointed chin (HP:0000307)2.47435018
56Termporal pattern (HP:0011008)2.44805031
57Insidious onset (HP:0003587)2.44805031
58Craniofacial dystonia (HP:0012179)2.42010458
59Abnormality of ocular smooth pursuit (HP:0000617)2.41704775
60Drooling (HP:0002307)2.41151056
61Excessive salivation (HP:0003781)2.41151056
62Peripheral hypomyelination (HP:0007182)2.40912097
63Scanning speech (HP:0002168)2.40385494
64Turricephaly (HP:0000262)2.40122841
65Progressive inability to walk (HP:0002505)2.36610683
66Sleep apnea (HP:0010535)2.32090332
67Impaired vibratory sensation (HP:0002495)2.30564722
68Abnormality of the corticospinal tract (HP:0002492)2.30539218
69Lower limb muscle weakness (HP:0007340)2.30359453
70Bundle branch block (HP:0011710)2.29720850
71Ankyloglossia (HP:0010296)2.28819261
72Obstructive sleep apnea (HP:0002870)2.25523234
73Agitation (HP:0000713)2.25421694
74Fetal akinesia sequence (HP:0001989)2.25182877
75Dysmetric saccades (HP:0000641)2.24516482
76Epileptiform EEG discharges (HP:0011182)2.23156181
77Delusions (HP:0000746)2.21942351
78Aplasia involving bones of the upper limbs (HP:0009823)2.21260479
79Aplasia of the phalanges of the hand (HP:0009802)2.21260479
80Aplasia involving bones of the extremities (HP:0009825)2.21260479
81Hyperthyroidism (HP:0000836)2.20911393
82Status epilepticus (HP:0002133)2.20286324
83EEG with generalized epileptiform discharges (HP:0011198)2.19845821
84Distal upper limb amyotrophy (HP:0007149)2.19265843
85Upper limb amyotrophy (HP:0009129)2.19265843
86Hand muscle atrophy (HP:0009130)2.19067806
87Hypsarrhythmia (HP:0002521)2.13193156
88Spastic tetraparesis (HP:0001285)2.13142889
89Amyotrophic lateral sclerosis (HP:0007354)2.13109582
90Clonus (HP:0002169)2.11151905
91Bronchomalacia (HP:0002780)2.10273247
92Limb dystonia (HP:0002451)2.07840063
93Generalized myoclonic seizures (HP:0002123)2.07505472
94Apathy (HP:0000741)2.07426057
95Overriding aorta (HP:0002623)2.04527154
96Lower limb amyotrophy (HP:0007210)2.04207674
97Hammertoe (HP:0001765)2.03744289
98Absent speech (HP:0001344)1.99933248
99Polyphagia (HP:0002591)1.99418365
100Neuronal loss in central nervous system (HP:0002529)1.99057433
101Truncus arteriosus (HP:0001660)1.97387342
102Inappropriate behavior (HP:0000719)1.94888321
103Incomplete penetrance (HP:0003829)1.92205999
104Pheochromocytoma (HP:0002666)1.91414825
105Abnormal EKG (HP:0003115)1.91325167
106Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.91183828
107Gait ataxia (HP:0002066)1.89987618
108Elfin facies (HP:0004428)1.89339690
109CNS hypomyelination (HP:0003429)1.88398165
110Rapidly progressive (HP:0003678)1.86938206
111Abnormal gallbladder physiology (HP:0012438)1.86383990
112Cholecystitis (HP:0001082)1.86383990
113Bowel incontinence (HP:0002607)1.86375460
114Lower limb asymmetry (HP:0100559)1.84522488
115Abnormality of saccadic eye movements (HP:0000570)1.83767327
116Morphological abnormality of the pyramidal tract (HP:0002062)1.83627301
117Distal sensory impairment (HP:0002936)1.81047334
118Rigidity (HP:0002063)1.80646904
119Diminished motivation (HP:0000745)1.80001116
120Inability to walk (HP:0002540)1.78791694
121Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.77003220
122Resting tremor (HP:0002322)1.76809909
123Choreoathetosis (HP:0001266)1.76369456
124Psychosis (HP:0000709)1.74887646
125Spinal canal stenosis (HP:0003416)1.74339006
126Akinesia (HP:0002304)1.72048285
127Hyperacusis (HP:0010780)1.71597739
128Aqueductal stenosis (HP:0002410)1.70829837

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.35935358
2MAP3K94.26792722
3NTRK34.16078396
4MARK13.44817310
5DAPK22.96074576
6MINK12.83746272
7MAP3K42.68137523
8PAK62.57005380
9PRKD32.46949047
10TRIB32.39323325
11KSR22.30310721
12NTRK22.28991468
13CAMKK12.17505259
14NTRK12.14550903
15MAP2K72.05838937
16RIPK41.98310186
17MAP2K41.71535251
18KSR11.66991363
19CDK51.64537263
20DAPK11.57215062
21EEF2K1.56216676
22MAP3K121.52149858
23STK381.51395153
24SIK21.45942624
25TYRO31.38347268
26GRK51.37334375
27TAOK11.36747044
28MAP3K21.32445815
29ARAF1.29713646
30UHMK11.26345600
31PRPF4B1.25935552
32TNIK1.23858186
33PLK21.16566184
34PRKCG1.14843466
35MAPK131.14607210
36CDK191.14319219
37FES1.13933397
38CDK121.13101916
39LATS21.12393746
40STK111.05960225
41PHKG11.05197015
42PHKG21.05197015
43ALK1.05088930
44RIPK11.04232506
45MAP3K131.04142326
46CAMK10.99271085
47CAMKK20.98163460
48CDK150.94760414
49CDK180.94717142
50PKN20.93971498
51PRKCH0.91691956
52BRAF0.91131762
53TESK10.89623678
54CDK140.89342962
55PNCK0.88318519
56RET0.85952628
57CASK0.84323082
58LMTK20.83661044
59SIK10.83175639
60CDK11A0.82788876
61PINK10.81521157
62CAMK2A0.81170832
63SGK2230.76361517
64SGK4940.76361517
65PAK30.76203990
66RAF10.74549080
67CAMK1D0.73461304
68SMG10.73105415
69MARK20.72704838
70NEK10.69611824
71PDK10.69293964
72SGK10.67938150
73MAP3K110.66555003
74PDPK10.64726936
75MAPK120.63022965
76SGK30.62101092
77CAMK2B0.61064363
78DYRK1A0.59909243
79MAP3K10.59826142
80BRSK10.59241818
81PKN10.57664214
82DAPK30.57101552
83CSNK1G20.56968432
84CDC42BPA0.56319474
85PRKCZ0.56018073
86TNK20.55784106
87SCYL20.55486530
88PTK2B0.55149239
89CAMK1G0.54832421
90SGK20.52560500
91FGFR20.52541886
92FYN0.52294798
93BMPR20.51676473
94RPS6KA30.51584681
95MAP3K70.48333491
96CAMK40.47748803
97MAPK100.46105805
98WNK10.44154377
99NEK60.44032924
100LIMK10.43414138
101MTOR0.42931228
102CSNK1E0.42705333
103OXSR10.42599257
104RPS6KA20.41544152
105DYRK20.41518051
106MAP2K10.40393338
107FGFR40.40018476
108DMPK0.38691403
109CAMK2G0.36963500
110PRKCE0.36015198
111* GSK3B0.35968695
112FER0.35832506
113BMX0.35519442
114IRAK20.35460081
115RPS6KB10.35394865
116ERBB20.35370158
117AKT20.34536608
118ICK0.34192746
119DDR20.34099610
120CAMK2D0.33491697
121MAP2K60.30924012
122PRKCB0.30493094
123MAPK80.27506693

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.36650206
2Synaptic vesicle cycle_Homo sapiens_hsa047213.29264962
3Olfactory transduction_Homo sapiens_hsa047402.81226825
4Circadian entrainment_Homo sapiens_hsa047132.66221197
5Long-term potentiation_Homo sapiens_hsa047202.60920083
6GABAergic synapse_Homo sapiens_hsa047272.60537966
7Glutamatergic synapse_Homo sapiens_hsa047242.54502306
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.48760753
9Morphine addiction_Homo sapiens_hsa050322.37996039
10Amphetamine addiction_Homo sapiens_hsa050312.33174806
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.31758526
12Salivary secretion_Homo sapiens_hsa049702.20304228
13Dopaminergic synapse_Homo sapiens_hsa047282.10646631
14Insulin secretion_Homo sapiens_hsa049112.00674346
15Gastric acid secretion_Homo sapiens_hsa049711.97005714
16Cholinergic synapse_Homo sapiens_hsa047251.96341246
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.86972565
18Vitamin B6 metabolism_Homo sapiens_hsa007501.84405939
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.71636607
20Oxytocin signaling pathway_Homo sapiens_hsa049211.66474899
21Long-term depression_Homo sapiens_hsa047301.61199835
22Renin secretion_Homo sapiens_hsa049241.57701513
23Cocaine addiction_Homo sapiens_hsa050301.56991925
24GnRH signaling pathway_Homo sapiens_hsa049121.53954012
25Taste transduction_Homo sapiens_hsa047421.50183523
26Calcium signaling pathway_Homo sapiens_hsa040201.48937420
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.47950970
28Serotonergic synapse_Homo sapiens_hsa047261.47134734
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.44630108
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.37250718
31Gap junction_Homo sapiens_hsa045401.36866412
32Type II diabetes mellitus_Homo sapiens_hsa049301.32211493
33Nitrogen metabolism_Homo sapiens_hsa009101.30944059
34Glioma_Homo sapiens_hsa052141.27910920
35cAMP signaling pathway_Homo sapiens_hsa040241.24733533
36Estrogen signaling pathway_Homo sapiens_hsa049151.22276265
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16210323
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.15105909
39Axon guidance_Homo sapiens_hsa043601.13579040
40ErbB signaling pathway_Homo sapiens_hsa040121.11196067
41Collecting duct acid secretion_Homo sapiens_hsa049661.09159416
42Melanogenesis_Homo sapiens_hsa049161.07475037
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06775915
44Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.99500884
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99219139
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.93693227
47Dorso-ventral axis formation_Homo sapiens_hsa043200.90593654
48Oocyte meiosis_Homo sapiens_hsa041140.88162529
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.87915793
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86977274
51Pancreatic secretion_Homo sapiens_hsa049720.86237390
52Cardiac muscle contraction_Homo sapiens_hsa042600.85169594
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.81526823
54Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.79826143
55VEGF signaling pathway_Homo sapiens_hsa043700.78381301
56Choline metabolism in cancer_Homo sapiens_hsa052310.77562228
57Neurotrophin signaling pathway_Homo sapiens_hsa047220.77427331
58Thyroid hormone synthesis_Homo sapiens_hsa049180.77197483
592-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.75697443
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74789643
61Carbohydrate digestion and absorption_Homo sapiens_hsa049730.74761899
62Phototransduction_Homo sapiens_hsa047440.74237092
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72793943
64MAPK signaling pathway_Homo sapiens_hsa040100.71567017
65Arginine biosynthesis_Homo sapiens_hsa002200.68369147
66Dilated cardiomyopathy_Homo sapiens_hsa054140.67723609
67Vibrio cholerae infection_Homo sapiens_hsa051100.67419199
68AMPK signaling pathway_Homo sapiens_hsa041520.67204091
69mTOR signaling pathway_Homo sapiens_hsa041500.65601483
70Arginine and proline metabolism_Homo sapiens_hsa003300.65018058
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64170531
72Central carbon metabolism in cancer_Homo sapiens_hsa052300.63091373
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.62549210
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61040252
75Endocytosis_Homo sapiens_hsa041440.60574767
76Rap1 signaling pathway_Homo sapiens_hsa040150.59984693
77Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.59943971
78Type I diabetes mellitus_Homo sapiens_hsa049400.59635084
79Ras signaling pathway_Homo sapiens_hsa040140.59359759
80Biosynthesis of amino acids_Homo sapiens_hsa012300.58339503
81Bile secretion_Homo sapiens_hsa049760.57946075
82Endometrial cancer_Homo sapiens_hsa052130.57906820
83Hippo signaling pathway_Homo sapiens_hsa043900.57208836
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.56832850
85Non-small cell lung cancer_Homo sapiens_hsa052230.54746590
86Alcoholism_Homo sapiens_hsa050340.52727240
87Fatty acid biosynthesis_Homo sapiens_hsa000610.50620733
88Glucagon signaling pathway_Homo sapiens_hsa049220.49781459
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48649776
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48573985
91Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.48185896
92Prion diseases_Homo sapiens_hsa050200.48123090
93Renal cell carcinoma_Homo sapiens_hsa052110.47670717
94Inositol phosphate metabolism_Homo sapiens_hsa005620.47285538
95Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46918990
96Chemokine signaling pathway_Homo sapiens_hsa040620.45951469
97Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45806961
98African trypanosomiasis_Homo sapiens_hsa051430.43529383
99Insulin signaling pathway_Homo sapiens_hsa049100.43476662
100Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.42767939
101Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.42140829
102Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.41850672
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.40863196
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40111027
105Wnt signaling pathway_Homo sapiens_hsa043100.38680343
106Notch signaling pathway_Homo sapiens_hsa043300.36581190
107Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.34607913
108Circadian rhythm_Homo sapiens_hsa047100.34227883
109Sulfur relay system_Homo sapiens_hsa041220.33955684
110mRNA surveillance pathway_Homo sapiens_hsa030150.33312268
111Ovarian steroidogenesis_Homo sapiens_hsa049130.32525713
112Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32491266
113Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.30766719
114SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29790893
115Prolactin signaling pathway_Homo sapiens_hsa049170.29702717
116Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.29519169
117Salmonella infection_Homo sapiens_hsa051320.28890390
118Tight junction_Homo sapiens_hsa045300.28163739

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