PPFIA2

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. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.86371287
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.67678843
3pyrimidine nucleobase catabolic process (GO:0006208)5.66502911
4vocalization behavior (GO:0071625)5.62715461
5neuron cell-cell adhesion (GO:0007158)5.58838372
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.57965147
7ionotropic glutamate receptor signaling pathway (GO:0035235)5.50665342
8regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.31326325
9regulation of glutamate receptor signaling pathway (GO:1900449)5.27208112
10presynaptic membrane assembly (GO:0097105)5.26380681
11synaptic transmission, glutamatergic (GO:0035249)5.03905796
12protein localization to synapse (GO:0035418)5.01690735
13glutamate receptor signaling pathway (GO:0007215)4.95224140
14synaptic vesicle exocytosis (GO:0016079)4.88650624
15presynaptic membrane organization (GO:0097090)4.76340633
16postsynaptic membrane organization (GO:0001941)4.70879807
17positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.70624572
18neurotransmitter-gated ion channel clustering (GO:0072578)4.65527561
19neuron-neuron synaptic transmission (GO:0007270)4.58188557
20nucleobase catabolic process (GO:0046113)4.57458716
21locomotory exploration behavior (GO:0035641)4.55375636
22gamma-aminobutyric acid transport (GO:0015812)4.54235828
23synaptic vesicle maturation (GO:0016188)4.51268853
24glutamate secretion (GO:0014047)4.43952675
25synaptic vesicle docking involved in exocytosis (GO:0016081)4.40776636
26positive regulation of synapse maturation (GO:0090129)4.37569572
27establishment of mitochondrion localization (GO:0051654)4.37278366
28neuron recognition (GO:0008038)4.32628771
29exploration behavior (GO:0035640)4.22135541
30regulation of synaptic vesicle exocytosis (GO:2000300)4.19423425
31gamma-aminobutyric acid signaling pathway (GO:0007214)4.15226472
32regulation of excitatory postsynaptic membrane potential (GO:0060079)4.03314790
33regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.03072144
34regulation of neuronal synaptic plasticity (GO:0048168)3.96785364
35axonal fasciculation (GO:0007413)3.96670131
36regulation of postsynaptic membrane potential (GO:0060078)3.84336753
37regulation of synaptic vesicle transport (GO:1902803)3.83774399
38positive regulation of membrane potential (GO:0045838)3.82341867
39regulation of long-term neuronal synaptic plasticity (GO:0048169)3.80420221
40neuronal action potential propagation (GO:0019227)3.75029046
41long-term memory (GO:0007616)3.74474343
42negative regulation of synaptic transmission, GABAergic (GO:0032229)3.68544874
43regulation of dendritic spine morphogenesis (GO:0061001)3.67735344
44neurotransmitter secretion (GO:0007269)3.66778857
45G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.65741100
46mitochondrion transport along microtubule (GO:0047497)3.64805513
47establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.64805513
48transmission of nerve impulse (GO:0019226)3.64074642
49neuronal ion channel clustering (GO:0045161)3.59735215
50regulation of synapse maturation (GO:0090128)3.57894716
51positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.57758698
52regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.56576510
53regulation of synaptic transmission, glutamatergic (GO:0051966)3.54551937
54central nervous system projection neuron axonogenesis (GO:0021952)3.53426360
55behavioral fear response (GO:0001662)3.51358075
56behavioral defense response (GO:0002209)3.51358075
57response to histamine (GO:0034776)3.51117969
58regulation of synaptic plasticity (GO:0048167)3.48817661
59regulation of synapse structural plasticity (GO:0051823)3.46828122
60membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.46449415
61dendrite morphogenesis (GO:0048813)3.43894913
62dendritic spine morphogenesis (GO:0060997)3.42086384
63positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.40722817
64synaptic vesicle endocytosis (GO:0048488)3.40122661
65long-term synaptic potentiation (GO:0060291)3.36133013
66gonadal mesoderm development (GO:0007506)3.34307178
67startle response (GO:0001964)3.33109204
68membrane depolarization (GO:0051899)3.32174095
69fear response (GO:0042596)3.31759540
70auditory behavior (GO:0031223)3.31290231
71membrane depolarization during action potential (GO:0086010)3.30357911
72positive regulation of neurotransmitter secretion (GO:0001956)3.29513992
73membrane hyperpolarization (GO:0060081)3.27696667
74regulation of neurotransmitter secretion (GO:0046928)3.26508949
75regulation of dendritic spine development (GO:0060998)3.26240851
76cellular potassium ion homeostasis (GO:0030007)3.25985723
77regulation of respiratory system process (GO:0044065)3.25371388
78cerebellar Purkinje cell differentiation (GO:0021702)3.23311492
79positive regulation of synaptic transmission, GABAergic (GO:0032230)3.21580605
80regulation of vesicle fusion (GO:0031338)3.20001270
81cerebellar granule cell differentiation (GO:0021707)3.19996973
82positive regulation of synapse assembly (GO:0051965)3.18861970
83innervation (GO:0060384)3.18338079
84cochlea development (GO:0090102)3.16189025
85synapse assembly (GO:0007416)3.15416512
86cell migration in hindbrain (GO:0021535)3.12751951
87neurotransmitter transport (GO:0006836)3.11839814
88cerebral cortex radially oriented cell migration (GO:0021799)3.11706470
89layer formation in cerebral cortex (GO:0021819)3.11533266
90positive regulation of dendritic spine morphogenesis (GO:0061003)3.10330569
91learning (GO:0007612)3.07545785
92synapse organization (GO:0050808)3.02272891
93proline transport (GO:0015824)3.00352090
94synaptic transmission (GO:0007268)2.99235595
95positive regulation of neurotransmitter transport (GO:0051590)2.94354831
96regulation of synaptic transmission (GO:0050804)2.93551023
97negative regulation of dendrite development (GO:2000171)2.93267801
98negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.91981058
99positive regulation of dendritic spine development (GO:0060999)2.91245626
100central nervous system neuron axonogenesis (GO:0021955)2.91092140
101response to auditory stimulus (GO:0010996)2.90322099
102dendrite development (GO:0016358)2.88955628
103regulation of neurotransmitter transport (GO:0051588)2.88494387
104regulation of respiratory gaseous exchange (GO:0043576)2.88358343
105neuromuscular synaptic transmission (GO:0007274)2.88197085
106positive regulation of potassium ion transmembrane transport (GO:1901381)2.87805100
107organelle transport along microtubule (GO:0072384)2.85584940
108neuronal action potential (GO:0019228)2.85048613
109regulation of synapse assembly (GO:0051963)2.84909266
110positive regulation of synaptic transmission (GO:0050806)2.84312767
111cell differentiation in hindbrain (GO:0021533)2.82800529
112G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.82642586
113mechanosensory behavior (GO:0007638)2.82357570
114regulation of neurotransmitter levels (GO:0001505)2.81054921
115neurofilament cytoskeleton organization (GO:0060052)2.80843012
116central nervous system myelination (GO:0022010)2.80612678
117axon ensheathment in central nervous system (GO:0032291)2.80612678
118regulation of glutamate secretion (GO:0014048)2.80257730
119dendritic spine organization (GO:0097061)2.80143649
120regulation of synapse organization (GO:0050807)2.79809076
121adult walking behavior (GO:0007628)2.79199687
122establishment of synaptic vesicle localization (GO:0097480)2.78144020
123synaptic vesicle transport (GO:0048489)2.78144020

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.52672438
2GBX2_23144817_ChIP-Seq_PC3_Human4.27835667
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.98384140
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.91166574
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.87347776
6ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.55862436
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54180366
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.47287872
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.46463851
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.46463851
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.46034360
12* REST_21632747_ChIP-Seq_MESCs_Mouse2.42467567
13* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.42379025
14DROSHA_22980978_ChIP-Seq_HELA_Human2.40476496
15* EED_16625203_ChIP-ChIP_MESCs_Mouse2.28431051
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.27163982
17* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.25845524
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.24131470
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.09143228
20TAF15_26573619_Chip-Seq_HEK293_Human2.06771236
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.06233472
22CTBP1_25329375_ChIP-Seq_LNCAP_Human2.05587054
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03589480
24CTBP2_25329375_ChIP-Seq_LNCAP_Human2.03582864
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.01491766
26RARB_27405468_Chip-Seq_BRAIN_Mouse2.00733575
27RNF2_27304074_Chip-Seq_ESCs_Mouse1.99619195
28* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.95410736
29* REST_18959480_ChIP-ChIP_MESCs_Mouse1.91414954
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.89926858
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.89487237
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.86367169
33SMAD4_21799915_ChIP-Seq_A2780_Human1.81727254
34AR_21572438_ChIP-Seq_LNCaP_Human1.80051266
35* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.74213789
36* P300_19829295_ChIP-Seq_ESCs_Human1.72774240
37ZNF274_21170338_ChIP-Seq_K562_Hela1.67176254
38* CBX2_27304074_Chip-Seq_ESCs_Mouse1.64149644
39VDR_22108803_ChIP-Seq_LS180_Human1.62675062
40GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.55147565
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.54851824
42NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.54435451
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.53794113
44* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.53407396
45POU3F2_20337985_ChIP-ChIP_501MEL_Human1.51803421
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50097923
47TOP2B_26459242_ChIP-Seq_MCF-7_Human1.46022181
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.40856755
49* AR_25329375_ChIP-Seq_VCAP_Human1.39668384
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.39213973
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38236682
52FUS_26573619_Chip-Seq_HEK293_Human1.37190594
53STAT3_23295773_ChIP-Seq_U87_Human1.35236131
54SOX2_21211035_ChIP-Seq_LN229_Gbm1.35173212
55TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30916933
56OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29517828
57RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.28758744
58RNF2_27304074_Chip-Seq_NSC_Mouse1.28747534
59SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27418596
60IGF1R_20145208_ChIP-Seq_DFB_Human1.25608990
61UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21881459
62ARNT_22903824_ChIP-Seq_MCF-7_Human1.21348783
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.21101843
64POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19474568
65TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19474568
66PRDM14_20953172_ChIP-Seq_ESCs_Human1.19389204
67CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.19196872
68AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18932922
69TCF4_23295773_ChIP-Seq_U87_Human1.18582011
70* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.17605937
71TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.16371864
72RING1B_27294783_Chip-Seq_ESCs_Mouse1.14742287
73EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.14418458
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13819205
75AR_19668381_ChIP-Seq_PC3_Human1.13080765
76AHR_22903824_ChIP-Seq_MCF-7_Human1.13067709
77NANOG_18555785_Chip-Seq_ESCs_Mouse1.12971180
78TP53_18474530_ChIP-ChIP_U2OS_Human1.12302520
79* EWS_26573619_Chip-Seq_HEK293_Human1.12221306
80MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.10972329
81ERG_21242973_ChIP-ChIP_JURKAT_Human1.09716153
82VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.09694451
83LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09448673
84KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.09217896
85P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09110369
86CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07363292
87SOX9_26525672_Chip-Seq_HEART_Mouse1.07041260
88RING1B_27294783_Chip-Seq_NPCs_Mouse1.06992132
89RUNX2_22187159_ChIP-Seq_PCA_Human1.06643533
90BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.06556964
91MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06023847
92* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05524579
93NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05350193
94RBPJ_22232070_ChIP-Seq_NCS_Mouse1.03800496
95SALL1_21062744_ChIP-ChIP_HESCs_Human1.03222657
96* KDM2B_26808549_Chip-Seq_REH_Human1.03200853
97ER_23166858_ChIP-Seq_MCF-7_Human1.02752782
98* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02734758
99JUN_21703547_ChIP-Seq_K562_Human1.01819868
100* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.00625643
101HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.00235257
102SMAD3_21741376_ChIP-Seq_HESCs_Human1.00153543
103E2F1_18555785_Chip-Seq_ESCs_Mouse0.99639263
104MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99033724
105IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.98679602
106CBP_20019798_ChIP-Seq_JUKART_Human0.98679602
107CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97648039
108TP53_16413492_ChIP-PET_HCT116_Human0.97607135
109FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.97161641
110EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.96836841
111* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.96253492
112TAL1_26923725_Chip-Seq_HPCs_Mouse0.95863065
113BCAT_22108803_ChIP-Seq_LS180_Human0.94977729
114RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.93923002
115WT1_25993318_ChIP-Seq_PODOCYTE_Human0.93562585
116P53_22387025_ChIP-Seq_ESCs_Mouse0.93419503

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.22322785
2MP0003880_abnormal_central_pattern5.88618548
3MP0003635_abnormal_synaptic_transmissio3.96659149
4MP0001968_abnormal_touch/_nociception3.46698836
5MP0009745_abnormal_behavioral_response3.36113493
6MP0004270_analgesia3.35607988
7MP0002063_abnormal_learning/memory/cond3.25012452
8MP0005423_abnormal_somatic_nervous3.08389153
9MP0002064_seizures3.01600502
10MP0002735_abnormal_chemical_nociception2.88381507
11MP0002572_abnormal_emotion/affect_behav2.84763355
12MP0002736_abnormal_nociception_after2.80974073
13MP0009046_muscle_twitch2.70706237
14MP0002272_abnormal_nervous_system2.64880591
15MP0002734_abnormal_mechanical_nocicepti2.57401240
16MP0001486_abnormal_startle_reflex2.46316896
17MP0001501_abnormal_sleep_pattern2.30627101
18MP0001440_abnormal_grooming_behavior2.21972521
19MP0002067_abnormal_sensory_capabilities2.11204006
20MP0000778_abnormal_nervous_system2.09487952
21MP0002822_catalepsy2.02447404
22MP0006276_abnormal_autonomic_nervous1.95768323
23MP0002733_abnormal_thermal_nociception1.93237675
24MP0002184_abnormal_innervation1.91029191
25MP0001984_abnormal_olfaction1.88945360
26MP0003787_abnormal_imprinting1.87765189
27MP0001970_abnormal_pain_threshold1.84194456
28MP0001188_hyperpigmentation1.83904822
29MP0003121_genomic_imprinting1.83321261
30MP0005646_abnormal_pituitary_gland1.72773808
31MP0002557_abnormal_social/conspecific_i1.68725156
32MP0004924_abnormal_behavior1.64234928
33MP0005386_behavior/neurological_phenoty1.64234928
34MP0001529_abnormal_vocalization1.64041149
35MP0008569_lethality_at_weaning1.57098495
36MP0004811_abnormal_neuron_physiology1.55232605
37MP0003329_amyloid_beta_deposits1.54641235
38MP0003123_paternal_imprinting1.49860759
39MP0005551_abnormal_eye_electrophysiolog1.49692777
40MP0000955_abnormal_spinal_cord1.45611976
41MP0002882_abnormal_neuron_morphology1.44738328
42MP0002876_abnormal_thyroid_physiology1.43875618
43MP0003879_abnormal_hair_cell1.42840046
44MP0009780_abnormal_chondrocyte_physiolo1.38474120
45MP0002066_abnormal_motor_capabilities/c1.33143464
46MP0001905_abnormal_dopamine_level1.30671912
47MP0008877_abnormal_DNA_methylation1.29909072
48MP0002837_dystrophic_cardiac_calcinosis1.28251840
49MP0006292_abnormal_olfactory_placode1.26578386
50MP0005645_abnormal_hypothalamus_physiol1.26430107
51MP0001502_abnormal_circadian_rhythm1.24654259
52MP0004858_abnormal_nervous_system1.21945502
53MP0004885_abnormal_endolymph1.21183856
54MP0002909_abnormal_adrenal_gland1.19338571
55MP0004142_abnormal_muscle_tone1.17943398
56MP0003633_abnormal_nervous_system1.09516838
57MP0002152_abnormal_brain_morphology1.09063751
58MP0004215_abnormal_myocardial_fiber1.06375294
59MP0010386_abnormal_urinary_bladder1.03476899
60MP0003122_maternal_imprinting1.02713912
61MP0004145_abnormal_muscle_electrophysio0.99295702
62MP0003631_nervous_system_phenotype0.97630821
63MP0005187_abnormal_penis_morphology0.97336136
64MP0002229_neurodegeneration0.97280537
65MP0005409_darkened_coat_color0.95601306
66MP0002752_abnormal_somatic_nervous0.95252890
67MP0005171_absent_coat_pigmentation0.94717828
68MP0004742_abnormal_vestibular_system0.94714005
69MP0002069_abnormal_eating/drinking_beha0.92033420
70MP0004085_abnormal_heartbeat0.91447987
71MP0003890_abnormal_embryonic-extraembry0.91304434
72MP0006072_abnormal_retinal_apoptosis0.88410838
73MP0001986_abnormal_taste_sensitivity0.88119659
74MP0002638_abnormal_pupillary_reflex0.87911282
75MP0000537_abnormal_urethra_morphology0.87577467
76MP0001963_abnormal_hearing_physiology0.85409063
77MP0004133_heterotaxia0.84698889
78MP0000631_abnormal_neuroendocrine_gland0.84460640
79MP0008874_decreased_physiological_sensi0.84405226
80MP0005394_taste/olfaction_phenotype0.83832857
81MP0005499_abnormal_olfactory_system0.83832857
82MP0000751_myopathy0.83147309
83MP0003690_abnormal_glial_cell0.79606958
84MP0004484_altered_response_of0.78910408
85MP0008872_abnormal_physiological_respon0.78909832
86MP0001177_atelectasis0.77259737
87MP0003632_abnormal_nervous_system0.74837966
88MP0000920_abnormal_myelination0.74151416
89MP0005253_abnormal_eye_physiology0.72940536
90MP0001485_abnormal_pinna_reflex0.69938385
91MP0003938_abnormal_ear_development0.69479028
92MP0004147_increased_porphyrin_level0.66928165
93MP0000026_abnormal_inner_ear0.66510959
94MP0003634_abnormal_glial_cell0.66188618
95MP0003119_abnormal_digestive_system0.64550555
96MP0004043_abnormal_pH_regulation0.64323068
97MP0003861_abnormal_nervous_system0.64135946
98MP0002102_abnormal_ear_morphology0.62120828
99MP0000569_abnormal_digit_pigmentation0.62099788
100MP0003137_abnormal_impulse_conducting0.62015279
101MP0001664_abnormal_digestion0.61008275
102MP0002090_abnormal_vision0.60856328
103MP0002081_perinatal_lethality0.60853957
104MP0002653_abnormal_ependyma_morphology0.60656331
105MP0001943_abnormal_respiration0.58997639
106MP0005535_abnormal_body_temperature0.58003800
107MP0005595_abnormal_vascular_smooth0.57956981
108MP0000604_amyloidosis0.57374669
109MP0002751_abnormal_autonomic_nervous0.56403628
110MP0010769_abnormal_survival0.55603016
111MP0010770_preweaning_lethality0.55401112
112MP0002082_postnatal_lethality0.55401112
113MP0005195_abnormal_posterior_eye0.54586604
114MP0002234_abnormal_pharynx_morphology0.53702126
115MP0004510_myositis0.53318900
116MP0010768_mortality/aging0.52522975

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.36595518
2Myokymia (HP:0002411)5.98280605
3Focal seizures (HP:0007359)5.92152910
4Epileptic encephalopathy (HP:0200134)5.66165408
5Febrile seizures (HP:0002373)5.63668587
6Visual hallucinations (HP:0002367)4.93945495
7Atonic seizures (HP:0010819)4.71078031
8Progressive cerebellar ataxia (HP:0002073)4.61896559
9Hyperventilation (HP:0002883)4.36408113
10Absence seizures (HP:0002121)4.16213327
11Dialeptic seizures (HP:0011146)4.13894492
12Generalized tonic-clonic seizures (HP:0002069)3.94912665
13Broad-based gait (HP:0002136)3.92420348
14Amblyopia (HP:0000646)3.62193506
15Gaze-evoked nystagmus (HP:0000640)3.57910771
16Dysdiadochokinesis (HP:0002075)3.16439300
17Action tremor (HP:0002345)3.14443072
18Excessive salivation (HP:0003781)3.11892575
19Drooling (HP:0002307)3.11892575
20Poor eye contact (HP:0000817)2.96712666
21Truncal ataxia (HP:0002078)2.92726397
22Epileptiform EEG discharges (HP:0011182)2.90498813
23Diplopia (HP:0000651)2.83804772
24Abnormality of binocular vision (HP:0011514)2.83804772
25Impaired vibration sensation in the lower limbs (HP:0002166)2.77727823
26Hemiparesis (HP:0001269)2.76953952
27Supranuclear gaze palsy (HP:0000605)2.71769482
28Genetic anticipation (HP:0003743)2.71278534
29Dysmetria (HP:0001310)2.70829015
30Degeneration of the lateral corticospinal tracts (HP:0002314)2.64207397
31Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.64207397
32Protruding tongue (HP:0010808)2.62456088
33Abnormal social behavior (HP:0012433)2.61249584
34Impaired social interactions (HP:0000735)2.61249584
35EEG with generalized epileptiform discharges (HP:0011198)2.60859744
36Abnormal eating behavior (HP:0100738)2.57282209
37Absent speech (HP:0001344)2.57122282
38Abnormality of the lower motor neuron (HP:0002366)2.52623152
39Pachygyria (HP:0001302)2.47579795
40Impaired smooth pursuit (HP:0007772)2.46657813
41Scanning speech (HP:0002168)2.45925245
42Depression (HP:0000716)2.44908523
43Lissencephaly (HP:0001339)2.43059000
44Urinary bladder sphincter dysfunction (HP:0002839)2.40593649
45Hypsarrhythmia (HP:0002521)2.39116212
46Cerebral inclusion bodies (HP:0100314)2.37177159
47Anxiety (HP:0000739)2.35285993
48Inability to walk (HP:0002540)2.35125729
49Spastic tetraplegia (HP:0002510)2.34454459
50Fetal akinesia sequence (HP:0001989)2.31602195
51Mutism (HP:0002300)2.31538661
52Morphological abnormality of the pyramidal tract (HP:0002062)2.31225847
53Gait imbalance (HP:0002141)2.30500942
54Polyphagia (HP:0002591)2.29913337
55Akinesia (HP:0002304)2.29756140
56Spastic gait (HP:0002064)2.26464849
57Limb dystonia (HP:0002451)2.25022947
58Abnormality of the labia minora (HP:0012880)2.24284456
59Abnormality of the corticospinal tract (HP:0002492)2.21876599
60Neurofibrillary tangles (HP:0002185)2.21681274
61Sleep apnea (HP:0010535)2.21432242
62Stereotypic behavior (HP:0000733)2.21190498
63Ankle clonus (HP:0011448)2.19078451
64Hepatoblastoma (HP:0002884)2.18573086
65Bradykinesia (HP:0002067)2.17916665
66Thyroid-stimulating hormone excess (HP:0002925)2.17641217
67Abnormality of ocular smooth pursuit (HP:0000617)2.17002995
68Insidious onset (HP:0003587)2.14573960
69Termporal pattern (HP:0011008)2.14573960
70Hemiplegia (HP:0002301)2.13428306
71Progressive inability to walk (HP:0002505)2.12003485
72Abnormality of salivation (HP:0100755)2.10912974
73Central scotoma (HP:0000603)2.09559060
74Congenital stationary night blindness (HP:0007642)2.09341755
75Hypoplasia of the corpus callosum (HP:0002079)2.06609121
76Amyotrophic lateral sclerosis (HP:0007354)2.05523496
77Esotropia (HP:0000565)2.04657891
78Blue irides (HP:0000635)2.03656064
79Fibular aplasia (HP:0002990)2.00032773
80Ulnar claw (HP:0001178)1.99192280
81Failure to thrive in infancy (HP:0001531)1.98675493
82Intellectual disability, severe (HP:0010864)1.98282695
83Megalencephaly (HP:0001355)1.96005123
84Generalized myoclonic seizures (HP:0002123)1.95460041
85Incomplete penetrance (HP:0003829)1.94933143
86Aplasia involving bones of the upper limbs (HP:0009823)1.94468510
87Aplasia of the phalanges of the hand (HP:0009802)1.94468510
88Aplasia involving bones of the extremities (HP:0009825)1.94468510
89Specific learning disability (HP:0001328)1.92438005
90Thickened helices (HP:0000391)1.92410977
91Postural instability (HP:0002172)1.90621558
92Tented upper lip vermilion (HP:0010804)1.89703110
93Agitation (HP:0000713)1.89648190
94Status epilepticus (HP:0002133)1.86788330
95Urinary urgency (HP:0000012)1.86505631
96Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.85985473
97Exotropia (HP:0000577)1.85569467
98Pheochromocytoma (HP:0002666)1.85156501
99Gastroesophageal reflux (HP:0002020)1.85137955
100Focal dystonia (HP:0004373)1.84764294
101Intention tremor (HP:0002080)1.84431722
102Volvulus (HP:0002580)1.84390041
103Medial flaring of the eyebrow (HP:0010747)1.83064729
104Prolonged QT interval (HP:0001657)1.83020631
105Genital tract atresia (HP:0001827)1.82909689
106Papilledema (HP:0001085)1.82833930
107Torticollis (HP:0000473)1.82611908
108Widely spaced teeth (HP:0000687)1.82475143
109Impaired vibratory sensation (HP:0002495)1.81089881
110Congenital primary aphakia (HP:0007707)1.80689760
111Peripheral hypomyelination (HP:0007182)1.80435874
112Aplasia/Hypoplasia of the brainstem (HP:0007362)1.78158956
113Hypoplasia of the brainstem (HP:0002365)1.78158956
114Gait ataxia (HP:0002066)1.77720940
115Nephrogenic diabetes insipidus (HP:0009806)1.76171705
116Cortical dysplasia (HP:0002539)1.76106148
117Inappropriate behavior (HP:0000719)1.74034412
118Bradycardia (HP:0001662)1.70490860
119Paraplegia (HP:0010550)1.70427559
120Horizontal nystagmus (HP:0000666)1.69925441
121Retinal dysplasia (HP:0007973)1.69873987
122Partial agenesis of the corpus callosum (HP:0001338)1.68995472
123Lower limb muscle weakness (HP:0007340)1.68984203
124Abnormality of macular pigmentation (HP:0008002)1.68806709
125Syncope (HP:0001279)1.67095424
126Vaginal atresia (HP:0000148)1.66523011
127Abnormality of the astrocytes (HP:0100707)1.63360132

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.91800577
2EPHA45.28104543
3MARK13.39437272
4CASK3.27558409
5MAP3K43.15860413
6MAP2K73.12901886
7TNIK2.56598587
8MAP3K92.45308599
9MINK12.21131290
10PRPF4B1.99828819
11FES1.96513604
12DAPK21.81646157
13MAP2K41.74782182
14MAPK131.73666015
15NTRK21.72967865
16MAP3K121.72195826
17KSR11.61319745
18PAK61.59755879
19PLK21.58584857
20CAMK1G1.52449236
21DAPK11.50160431
22DYRK21.43570025
23CAMK1D1.36576040
24KSR21.34929759
25CDK51.34056798
26CDK191.33273518
27CAMK2B1.29447197
28PRKCG1.25132428
29SIK21.24039841
30RIPK41.23472471
31FRK1.20699225
32CAMK2A1.20038638
33SGK21.19053023
34GRK51.18304132
35PNCK1.12767771
36SGK4941.11407222
37SGK2231.11407222
38FER1.11149410
39CCNB11.10310132
40MAP3K61.08462852
41AKT31.07842948
42CAMKK11.04700240
43DYRK1A1.02856796
44MAP4K21.02601689
45PTK2B0.98188344
46STK380.93689330
47CSNK1A1L0.92990034
48PHKG20.92114122
49PHKG10.92114122
50NTRK10.90759628
51OXSR10.90072747
52BMPR20.84653881
53ARAF0.84184312
54SIK30.82420941
55CSNK1G30.82376100
56TRIM280.80451503
57CAMK2D0.79481704
58ERBB30.78591164
59SGK10.78222522
60CDK180.77791171
61NME10.77201048
62SGK30.74903753
63CDK150.72393001
64MARK20.72206048
65CAMK10.71288544
66CSNK1G10.70036816
67PRKCE0.69210298
68EPHA30.68821100
69CDK140.68443228
70UHMK10.67662786
71CSNK1G20.67305634
72FGR0.66602872
73STK390.66185422
74CAMK40.65634956
75MAP3K130.63021240
76MAP3K20.62609172
77CDK11A0.62383029
78PAK30.62373755
79TNK20.59318690
80STK110.58249527
81LATS20.55971403
82TAOK20.55207713
83PRKD30.53668979
84RET0.53483912
85CSNK1E0.52452605
86RAF10.52089544
87CDK30.50521615
88PINK10.50461006
89CAMK2G0.50409447
90BCR0.50252160
91GRK10.50168168
92EPHB20.48232462
93CAMKK20.48168248
94WNK30.47745518
95MAPK120.47321709
96ADRBK20.46085655
97CDC42BPA0.45851629
98GRK70.44572577
99TYRO30.44365163
100WNK40.43894165
101CSNK1D0.43802051
102MAPK100.43123041
103PKN10.40649983
104PRKCH0.39627752
105TAF10.39516575
106BRAF0.39261587
107RPS6KA30.39145751
108PRKCZ0.37678308
109CSNK1A10.36790880
110PRKG10.36658842
111PRKAA10.35968855
112ADRBK10.35869886
113PRKACA0.35078589
114NEK60.33950018
115MAP2K10.33111409
116GSK3B0.32828994
117FYN0.32479860
118TAOK10.32187797
119BMPR1B0.32070714
120RPS6KA20.31906310
121PRKCB0.31718697
122RPS6KB10.31257588
123PDK10.30781268
124MAPK80.30779968
125INSRR0.30133021
126ERBB20.29785982
127MAP3K50.29636837
128DYRK1B0.28783667

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.62898472
2Synaptic vesicle cycle_Homo sapiens_hsa047213.31668986
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.01645785
4Circadian entrainment_Homo sapiens_hsa047132.95921248
5Long-term potentiation_Homo sapiens_hsa047202.86670427
6Glutamatergic synapse_Homo sapiens_hsa047242.82490835
7GABAergic synapse_Homo sapiens_hsa047272.77929581
8Morphine addiction_Homo sapiens_hsa050322.68656269
9Amphetamine addiction_Homo sapiens_hsa050312.63507220
10Olfactory transduction_Homo sapiens_hsa047402.50567318
11Dopaminergic synapse_Homo sapiens_hsa047282.26603749
12Taste transduction_Homo sapiens_hsa047422.24659537
13Salivary secretion_Homo sapiens_hsa049702.04533304
14Insulin secretion_Homo sapiens_hsa049111.94654730
15Serotonergic synapse_Homo sapiens_hsa047261.94322574
16Long-term depression_Homo sapiens_hsa047301.89048455
17Cholinergic synapse_Homo sapiens_hsa047251.87998646
18Collecting duct acid secretion_Homo sapiens_hsa049661.86425474
19Phototransduction_Homo sapiens_hsa047441.82340804
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.75751425
21Calcium signaling pathway_Homo sapiens_hsa040201.72455210
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.71744150
23Renin secretion_Homo sapiens_hsa049241.68520300
24Oxytocin signaling pathway_Homo sapiens_hsa049211.62046942
25Cocaine addiction_Homo sapiens_hsa050301.61317854
26Gastric acid secretion_Homo sapiens_hsa049711.61016087
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.44243035
28Axon guidance_Homo sapiens_hsa043601.41235859
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.40729161
30cAMP signaling pathway_Homo sapiens_hsa040241.36457049
31GnRH signaling pathway_Homo sapiens_hsa049121.31377734
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.28100838
33Type II diabetes mellitus_Homo sapiens_hsa049301.26113907
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.21368418
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.19499305
36Gap junction_Homo sapiens_hsa045401.14999008
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.08679847
38ErbB signaling pathway_Homo sapiens_hsa040121.05918202
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.05827629
40Vibrio cholerae infection_Homo sapiens_hsa051101.04272627
41Estrogen signaling pathway_Homo sapiens_hsa049151.04271619
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02713011
43Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.96446321
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.95498418
45Cardiac muscle contraction_Homo sapiens_hsa042600.92697964
46Melanogenesis_Homo sapiens_hsa049160.89318716
47Glioma_Homo sapiens_hsa052140.87044036
48Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85847405
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.85586618
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.84441868
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83244427
52Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79764249
53Circadian rhythm_Homo sapiens_hsa047100.79116830
54Choline metabolism in cancer_Homo sapiens_hsa052310.77464888
55Fatty acid biosynthesis_Homo sapiens_hsa000610.74827911
56Pancreatic secretion_Homo sapiens_hsa049720.72195067
57MAPK signaling pathway_Homo sapiens_hsa040100.71617232
58Dilated cardiomyopathy_Homo sapiens_hsa054140.69034641
59Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.68067919
60Butanoate metabolism_Homo sapiens_hsa006500.65943779
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.65132481
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.64490480
63Ras signaling pathway_Homo sapiens_hsa040140.63199054
64Oocyte meiosis_Homo sapiens_hsa041140.60476677
65Alzheimers disease_Homo sapiens_hsa050100.59517545
66Dorso-ventral axis formation_Homo sapiens_hsa043200.58342720
67Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.55078188
68Wnt signaling pathway_Homo sapiens_hsa043100.54936672
69Thyroid hormone synthesis_Homo sapiens_hsa049180.54679902
70Ether lipid metabolism_Homo sapiens_hsa005650.54248865
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54125118
72Glucagon signaling pathway_Homo sapiens_hsa049220.52477847
73Histidine metabolism_Homo sapiens_hsa003400.49621101
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.48563961
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47982902
76Hedgehog signaling pathway_Homo sapiens_hsa043400.46138670
77Inositol phosphate metabolism_Homo sapiens_hsa005620.44347815
78Rap1 signaling pathway_Homo sapiens_hsa040150.43905611
79Hippo signaling pathway_Homo sapiens_hsa043900.43305139
80Oxidative phosphorylation_Homo sapiens_hsa001900.43300529
81Alcoholism_Homo sapiens_hsa050340.43190826
82AMPK signaling pathway_Homo sapiens_hsa041520.43125476
83Carbohydrate digestion and absorption_Homo sapiens_hsa049730.42682718
84Steroid biosynthesis_Homo sapiens_hsa001000.42615210
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42548129
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41452516
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.40929205
88VEGF signaling pathway_Homo sapiens_hsa043700.40222921
89Regulation of autophagy_Homo sapiens_hsa041400.40196587
90Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.39135302
91beta-Alanine metabolism_Homo sapiens_hsa004100.36844778
92SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36381520
93Rheumatoid arthritis_Homo sapiens_hsa053230.35322577
94African trypanosomiasis_Homo sapiens_hsa051430.34972355
95Endometrial cancer_Homo sapiens_hsa052130.34928904
96Colorectal cancer_Homo sapiens_hsa052100.34672863
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.33545071
98alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.33402672
99Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.32488036
100Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.30151736
101Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29977418
102Mineral absorption_Homo sapiens_hsa049780.29839473
103mTOR signaling pathway_Homo sapiens_hsa041500.28242108
104Ovarian steroidogenesis_Homo sapiens_hsa049130.27165252
105Renal cell carcinoma_Homo sapiens_hsa052110.25520270
106Bile secretion_Homo sapiens_hsa049760.25518416
107Insulin signaling pathway_Homo sapiens_hsa049100.24150525
108Type I diabetes mellitus_Homo sapiens_hsa049400.23193706
109Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.23016345
110Prion diseases_Homo sapiens_hsa050200.22997309
111Phagosome_Homo sapiens_hsa041450.21306594
112Longevity regulating pathway - mammal_Homo sapiens_hsa042110.19877999
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.19150368
114Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.18880000
115Endocytosis_Homo sapiens_hsa041440.18271615

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