PPM1L

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 magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.48341360
2locomotory exploration behavior (GO:0035641)5.12393106
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.07626177
4synaptic vesicle maturation (GO:0016188)5.06980063
5neuronal action potential propagation (GO:0019227)4.83078621
6synaptic vesicle exocytosis (GO:0016079)4.79239562
7glutamate secretion (GO:0014047)4.69555647
8regulation of synaptic vesicle exocytosis (GO:2000300)4.60664185
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.60266501
10vocalization behavior (GO:0071625)4.58266399
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.41067273
12neuron cell-cell adhesion (GO:0007158)4.40982146
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.35355825
14protein localization to synapse (GO:0035418)4.13276953
15regulation of synaptic vesicle transport (GO:1902803)4.09802080
16regulation of glutamate receptor signaling pathway (GO:1900449)4.05401221
17layer formation in cerebral cortex (GO:0021819)4.01502540
18neurotransmitter secretion (GO:0007269)3.87543832
19exploration behavior (GO:0035640)3.87445386
20pyrimidine nucleobase catabolic process (GO:0006208)3.84360201
21ionotropic glutamate receptor signaling pathway (GO:0035235)3.79243935
22synaptic transmission, glutamatergic (GO:0035249)3.61849850
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.61324804
24dendritic spine morphogenesis (GO:0060997)3.56241501
25activation of protein kinase A activity (GO:0034199)3.56082686
26regulation of neuronal synaptic plasticity (GO:0048168)3.54684975
27regulation of long-term neuronal synaptic plasticity (GO:0048169)3.52990939
28glutamate receptor signaling pathway (GO:0007215)3.51594978
29membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.50789813
30proline transport (GO:0015824)3.50768219
31cellular potassium ion homeostasis (GO:0030007)3.46980991
32neuron-neuron synaptic transmission (GO:0007270)3.45051615
33positive regulation of synapse maturation (GO:0090129)3.42122687
34gamma-aminobutyric acid transport (GO:0015812)3.41555708
35neuron recognition (GO:0008038)3.41440829
36regulation of synapse structural plasticity (GO:0051823)3.41089586
37neurotransmitter-gated ion channel clustering (GO:0072578)3.39437994
38cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.36928142
39cerebellar Purkinje cell differentiation (GO:0021702)3.31850493
40positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.27217363
41innervation (GO:0060384)3.26229232
42detection of calcium ion (GO:0005513)3.25912451
43dendrite morphogenesis (GO:0048813)3.24280769
44axonal fasciculation (GO:0007413)3.24207367
45negative regulation of cytosolic calcium ion concentration (GO:0051481)3.22787284
46positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.19856546
47long-term memory (GO:0007616)3.19575036
48nucleobase catabolic process (GO:0046113)3.19049431
49regulation of excitatory postsynaptic membrane potential (GO:0060079)3.18792388
50potassium ion import (GO:0010107)3.16747366
51regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.16173810
52membrane depolarization during action potential (GO:0086010)3.15059394
53cell communication by electrical coupling (GO:0010644)3.13237245
54gamma-aminobutyric acid signaling pathway (GO:0007214)3.12403895
55positive regulation of membrane potential (GO:0045838)3.12039609
56neurotransmitter transport (GO:0006836)3.11604407
57sodium ion export (GO:0071436)3.11595395
58presynaptic membrane assembly (GO:0097105)3.11325427
59regulation of voltage-gated calcium channel activity (GO:1901385)3.11120382
60cerebellar granule cell differentiation (GO:0021707)3.09370646
61establishment of mitochondrion localization (GO:0051654)3.07603548
62potassium ion homeostasis (GO:0055075)3.07461179
63regulation of postsynaptic membrane potential (GO:0060078)3.07161308
64postsynaptic membrane organization (GO:0001941)3.06050889
65regulation of neurotransmitter secretion (GO:0046928)3.04009487
66L-amino acid import (GO:0043092)3.03417470
67cell communication involved in cardiac conduction (GO:0086065)2.97440539
68startle response (GO:0001964)2.96988297
69cell migration in hindbrain (GO:0021535)2.96924185
70central nervous system myelination (GO:0022010)2.96446378
71axon ensheathment in central nervous system (GO:0032291)2.96446378
72neuromuscular process controlling balance (GO:0050885)2.96345189
73cellular sodium ion homeostasis (GO:0006883)2.95423434
74presynaptic membrane organization (GO:0097090)2.95324265
75regulation of synaptic plasticity (GO:0048167)2.94824282
76regulation of dendritic spine morphogenesis (GO:0061001)2.93113835
77positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.92984347
78central nervous system projection neuron axonogenesis (GO:0021952)2.92058461
79regulation of vesicle fusion (GO:0031338)2.91884742
80synaptic vesicle endocytosis (GO:0048488)2.91478690
81transmission of nerve impulse (GO:0019226)2.89646241
82vesicle transport along microtubule (GO:0047496)2.87594037
83regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.87492681
84long-term synaptic potentiation (GO:0060291)2.87229375
85regulation of neurotransmitter levels (GO:0001505)2.84787655
86regulation of synaptic transmission, glutamatergic (GO:0051966)2.84518656
87negative regulation of neurotransmitter transport (GO:0051589)2.83845158
88G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.83173009
89regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.82500568
90membrane depolarization (GO:0051899)2.82026300
91neuromuscular process controlling posture (GO:0050884)2.81674615
92regulation of cell communication by electrical coupling (GO:0010649)2.81385489
93positive regulation of synaptic transmission, GABAergic (GO:0032230)2.81029493
94regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.79908562
95mitochondrion transport along microtubule (GO:0047497)2.77917396
96establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.77917396
97behavioral response to nicotine (GO:0035095)2.77459602
98response to auditory stimulus (GO:0010996)2.77309186
99regulation of membrane repolarization (GO:0060306)2.77233886
100organelle transport along microtubule (GO:0072384)2.77065552
101regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.76672661
102negative regulation of synaptic transmission, GABAergic (GO:0032229)2.76439817
103neuromuscular synaptic transmission (GO:0007274)2.75830979
104neuronal ion channel clustering (GO:0045161)2.75384948
105regulation of neurotransmitter transport (GO:0051588)2.75378933
106adult walking behavior (GO:0007628)2.74871719
107synapse organization (GO:0050808)2.74283869
108glycine transport (GO:0015816)2.73848418
109sarcoplasmic reticulum calcium ion transport (GO:0070296)2.73060970
110chemosensory behavior (GO:0007635)2.72905819
111positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.72372031
112positive regulation of potassium ion transmembrane transport (GO:1901381)2.71560814
113synapse assembly (GO:0007416)2.71240631
114negative regulation of neurotransmitter secretion (GO:0046929)2.71110218
115regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.70272453
116suckling behavior (GO:0001967)2.69397207
117regulation of ARF protein signal transduction (GO:0032012)2.68355773
118mechanosensory behavior (GO:0007638)2.67175679
119regulation of calcium ion-dependent exocytosis (GO:0017158)2.66127032
120cerebellar Purkinje cell layer development (GO:0021680)2.65464055
121regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.64568913
122regulation of calcium ion transmembrane transporter activity (GO:1901019)2.64388069
123regulation of calcium ion transmembrane transport (GO:1903169)2.64388069
124cell differentiation in hindbrain (GO:0021533)2.62804466
125auditory behavior (GO:0031223)2.62643975
126synaptic transmission (GO:0007268)2.62587553

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.58903233
2GBX2_23144817_ChIP-Seq_PC3_Human3.33944154
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.96047383
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.92322775
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.83822354
6* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.60458941
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.60458941
8* REST_21632747_ChIP-Seq_MESCs_Mouse2.55146382
9* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.50442167
10* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.44041587
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.42621743
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.42614427
13DROSHA_22980978_ChIP-Seq_HELA_Human2.42163073
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41379566
15* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.39221453
16* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.30617050
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.29868076
18* EZH2_27294783_Chip-Seq_ESCs_Mouse2.19544492
19* EED_16625203_ChIP-ChIP_MESCs_Mouse2.14827717
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.12780199
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.09816786
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.05064496
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.94753968
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.88916083
25AR_21572438_ChIP-Seq_LNCaP_Human1.82106172
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81527600
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.81276164
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.80517866
29CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.80375009
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.76898519
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66276848
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.62119500
33ZNF274_21170338_ChIP-Seq_K562_Hela1.61356399
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.61255003
35TAF15_26573619_Chip-Seq_HEK293_Human1.54572289
36NR3C1_23031785_ChIP-Seq_PC12_Mouse1.51153215
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50778286
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.47243231
39MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.45946117
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.43264956
41SOX2_21211035_ChIP-Seq_LN229_Gbm1.41729973
42HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.38855502
43* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.36246109
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35684479
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35396739
46IKZF1_21737484_ChIP-ChIP_HCT116_Human1.31621658
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.28713121
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26409092
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.26196798
50* STAT3_23295773_ChIP-Seq_U87_Human1.25590887
51RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.25187452
52* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25118504
53* AR_19668381_ChIP-Seq_PC3_Human1.25111825
54P300_19829295_ChIP-Seq_ESCs_Human1.24637454
55ZFP57_27257070_Chip-Seq_ESCs_Mouse1.24563193
56RING1B_27294783_Chip-Seq_ESCs_Mouse1.23697046
57* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22369872
58* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20713320
59WT1_25993318_ChIP-Seq_PODOCYTE_Human1.20529101
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20467496
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19924630
62* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.19588660
63AR_25329375_ChIP-Seq_VCAP_Human1.17919871
64* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17733490
65FUS_26573619_Chip-Seq_HEK293_Human1.16191099
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.15991434
67RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15886090
68ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14631370
69* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14262838
70AHR_22903824_ChIP-Seq_MCF-7_Human1.12704685
71* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.11605992
72CBX2_27304074_Chip-Seq_ESCs_Mouse1.11605156
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.11209727
74UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11081693
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10738499
76* NANOG_18555785_Chip-Seq_ESCs_Mouse1.10300915
77* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09012873
78KDM2B_26808549_Chip-Seq_K562_Human1.08945021
79* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.08830503
80RBPJ_22232070_ChIP-Seq_NCS_Mouse1.08479085
81RING1B_27294783_Chip-Seq_NPCs_Mouse1.08101256
82TCF4_23295773_ChIP-Seq_U87_Human1.07755768
83SMAD_19615063_ChIP-ChIP_OVARY_Human1.05252161
84DNAJC2_21179169_ChIP-ChIP_NT2_Human1.05034985
85IGF1R_20145208_ChIP-Seq_DFB_Human1.03973909
86BMI1_23680149_ChIP-Seq_NPCS_Mouse1.02985644
87EP300_21415370_ChIP-Seq_HL-1_Mouse1.02736699
88CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.01693065
89TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.00549582
90STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.00446852
91SMAD3_21741376_ChIP-Seq_ESCs_Human1.00377704
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00303500
93SMAD4_21741376_ChIP-Seq_HESCs_Human0.99837632
94P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99451096
95SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99409581
96POU3F2_20337985_ChIP-ChIP_501MEL_Human0.98795459
97MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98353082
98KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98342264
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.97760599
100ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.97666307
101EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.96815331
102FLI1_21867929_ChIP-Seq_TH2_Mouse0.95710765
103ZFP281_18757296_ChIP-ChIP_E14_Mouse0.95387322
104P53_22387025_ChIP-Seq_ESCs_Mouse0.95161023
105TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94063939
106CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93565375
107* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.93279046
108RUNX2_22187159_ChIP-Seq_PCA_Human0.93117785
109NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92716680
110TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92516253
111TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.92130482
112SMAD3_21741376_ChIP-Seq_HESCs_Human0.90482301
113RNF2_27304074_Chip-Seq_NSC_Mouse0.89305140
114TP53_16413492_ChIP-PET_HCT116_Human0.89016876
115BCAT_22108803_ChIP-Seq_LS180_Human0.88954799
116TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86081065
117POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.86081065
118TET1_21490601_ChIP-Seq_MESCs_Mouse0.85501135
119OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.85042216
120CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84864187
121SMAD4_21741376_ChIP-Seq_EPCs_Human0.83202070

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.45906392
2MP0003880_abnormal_central_pattern3.84632687
3MP0004270_analgesia3.77130718
4MP0003635_abnormal_synaptic_transmissio3.64126178
5MP0009745_abnormal_behavioral_response2.85835935
6MP0002063_abnormal_learning/memory/cond2.82058896
7MP0009046_muscle_twitch2.71064377
8MP0001968_abnormal_touch/_nociception2.70429212
9MP0002064_seizures2.70409475
10MP0002734_abnormal_mechanical_nocicepti2.61683759
11MP0009780_abnormal_chondrocyte_physiolo2.58932607
12MP0004145_abnormal_muscle_electrophysio2.42760613
13MP0002572_abnormal_emotion/affect_behav2.38893889
14MP0002272_abnormal_nervous_system2.36323418
15MP0005423_abnormal_somatic_nervous2.33187647
16MP0002735_abnormal_chemical_nociception2.21350625
17MP0002837_dystrophic_cardiac_calcinosis2.21234382
18MP0002909_abnormal_adrenal_gland2.19300178
19MP0001486_abnormal_startle_reflex2.05182767
20MP0002733_abnormal_thermal_nociception2.02705501
21MP0001440_abnormal_grooming_behavior1.98559829
22MP0002736_abnormal_nociception_after1.97289863
23MP0000751_myopathy1.92574045
24MP0004858_abnormal_nervous_system1.92102595
25MP0002067_abnormal_sensory_capabilities1.90825903
26MP0008569_lethality_at_weaning1.85642764
27MP0001970_abnormal_pain_threshold1.85206060
28MP0002184_abnormal_innervation1.80854299
29MP0003329_amyloid_beta_deposits1.79295056
30MP0000778_abnormal_nervous_system1.73162788
31MP0001501_abnormal_sleep_pattern1.73151554
32MP0000013_abnormal_adipose_tissue1.65571906
33MP0003690_abnormal_glial_cell1.63328348
34MP0004811_abnormal_neuron_physiology1.60802819
35MP0002557_abnormal_social/conspecific_i1.59224938
36MP0000955_abnormal_spinal_cord1.58891645
37MP0005386_behavior/neurological_phenoty1.56851571
38MP0004924_abnormal_behavior1.56851571
39MP0002822_catalepsy1.55689584
40MP0003879_abnormal_hair_cell1.43983959
41MP0006276_abnormal_autonomic_nervous1.40960980
42MP0003283_abnormal_digestive_organ1.40228401
43MP0002066_abnormal_motor_capabilities/c1.33929413
44MP0002882_abnormal_neuron_morphology1.33811908
45MP0004233_abnormal_muscle_weight1.33197918
46MP0005646_abnormal_pituitary_gland1.32324724
47MP0003646_muscle_fatigue1.32295685
48MP0004043_abnormal_pH_regulation1.30308651
49MP0004215_abnormal_myocardial_fiber1.25901650
50MP0008961_abnormal_basal_metabolism1.25823779
51MP0005645_abnormal_hypothalamus_physiol1.23896221
52MP0001984_abnormal_olfaction1.22987657
53MP0001502_abnormal_circadian_rhythm1.22168703
54MP0003633_abnormal_nervous_system1.20463427
55MP0004885_abnormal_endolymph1.19633544
56MP0001485_abnormal_pinna_reflex1.19500994
57MP0004036_abnormal_muscle_relaxation1.19249558
58MP0003122_maternal_imprinting1.18210058
59MP0000747_muscle_weakness1.17732048
60MP0003787_abnormal_imprinting1.16640443
61MP0003121_genomic_imprinting1.08653815
62MP0004142_abnormal_muscle_tone1.07141827
63MP0010386_abnormal_urinary_bladder1.04361462
64MP0000749_muscle_degeneration1.03739460
65MP0004085_abnormal_heartbeat1.03535566
66MP0003631_nervous_system_phenotype1.00853543
67MP0002152_abnormal_brain_morphology1.00321395
68MP0004130_abnormal_muscle_cell0.98102009
69MP0001299_abnormal_eye_distance/0.97719424
70MP0002229_neurodegeneration0.96231546
71MP0005620_abnormal_muscle_contractility0.93075030
72MP0003634_abnormal_glial_cell0.92756611
73MP0002234_abnormal_pharynx_morphology0.90401825
74MP0003137_abnormal_impulse_conducting0.90084729
75MP0004484_altered_response_of0.88986012
76MP0005187_abnormal_penis_morphology0.88823009
77MP0002069_abnormal_eating/drinking_beha0.87715318
78MP0005409_darkened_coat_color0.87071738
79MP0001529_abnormal_vocalization0.85521437
80MP0003123_paternal_imprinting0.82836476
81MP0004742_abnormal_vestibular_system0.82698570
82MP0005535_abnormal_body_temperature0.82618488
83MP0000631_abnormal_neuroendocrine_gland0.81335031
84MP0008877_abnormal_DNA_methylation0.80151972
85MP0002269_muscular_atrophy0.79884402
86MP0001188_hyperpigmentation0.78999652
87MP0002638_abnormal_pupillary_reflex0.78975369
88MP0001905_abnormal_dopamine_level0.78435888
89MP0004084_abnormal_cardiac_muscle0.78108017
90MP0002106_abnormal_muscle_physiology0.77472095
91MP0005551_abnormal_eye_electrophysiolog0.77456873
92MP0001986_abnormal_taste_sensitivity0.77236313
93MP0005253_abnormal_eye_physiology0.76886076
94MP0005248_abnormal_Harderian_gland0.76318837
95MP0003632_abnormal_nervous_system0.76160567
96MP0003136_yellow_coat_color0.75674935
97MP0000026_abnormal_inner_ear0.75447715
98MP0006072_abnormal_retinal_apoptosis0.75431221
99MP0000759_abnormal_skeletal_muscle0.74835313
100MP0005623_abnormal_meninges_morphology0.73847760
101MP0000920_abnormal_myelination0.73319881
102MP0005369_muscle_phenotype0.71391536
103MP0002752_abnormal_somatic_nervous0.69695948
104MP0002876_abnormal_thyroid_physiology0.67621222
105MP0003861_abnormal_nervous_system0.67584191
106MP0000569_abnormal_digit_pigmentation0.67318843
107MP0000003_abnormal_adipose_tissue0.67271354
108MP0002090_abnormal_vision0.66672499
109MP0004087_abnormal_muscle_fiber0.65957415
110MP0001963_abnormal_hearing_physiology0.65395906
111MP0003045_fibrosis0.64757505
112MP0002972_abnormal_cardiac_muscle0.63969574
113MP0001177_atelectasis0.63674942
114MP0010769_abnormal_survival0.63293414
115MP0004510_myositis0.61520260
116MP0010770_preweaning_lethality0.61156610
117MP0002082_postnatal_lethality0.61156610
118MP0003938_abnormal_ear_development0.60396596
119MP0001943_abnormal_respiration0.60261167

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.23575924
2Myokymia (HP:0002411)4.87072046
3Visual hallucinations (HP:0002367)4.84164862
4Focal seizures (HP:0007359)4.70239726
5Atonic seizures (HP:0010819)4.34310656
6Epileptic encephalopathy (HP:0200134)4.23312232
7Action tremor (HP:0002345)4.14409864
8Absence seizures (HP:0002121)3.79644856
9Progressive cerebellar ataxia (HP:0002073)3.61881013
10Febrile seizures (HP:0002373)3.53749914
11Dialeptic seizures (HP:0011146)3.40145879
12Generalized tonic-clonic seizures (HP:0002069)3.36638256
13Pheochromocytoma (HP:0002666)3.20155034
14Insidious onset (HP:0003587)3.12838901
15Termporal pattern (HP:0011008)3.12838901
16Broad-based gait (HP:0002136)3.11867956
17Exercise-induced myalgia (HP:0003738)3.06794283
18Ankle clonus (HP:0011448)3.06417872
19Poor eye contact (HP:0000817)2.98227910
20Hyperventilation (HP:0002883)2.96021325
21Supranuclear gaze palsy (HP:0000605)2.92137108
22Depression (HP:0000716)2.90411704
23Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.85986803
24Impaired social interactions (HP:0000735)2.77623719
25Abnormal social behavior (HP:0012433)2.77623719
26Epileptiform EEG discharges (HP:0011182)2.74497732
27Gaze-evoked nystagmus (HP:0000640)2.72201242
28Neuroendocrine neoplasm (HP:0100634)2.69361008
29Dysdiadochokinesis (HP:0002075)2.67897855
30EEG with generalized epileptiform discharges (HP:0011198)2.67776818
31Truncal ataxia (HP:0002078)2.67052974
32Agitation (HP:0000713)2.66186856
33Anxiety (HP:0000739)2.63304487
34Urinary bladder sphincter dysfunction (HP:0002839)2.59928374
35Excessive salivation (HP:0003781)2.59531608
36Drooling (HP:0002307)2.59531608
37Polyphagia (HP:0002591)2.56346751
38Impaired vibration sensation in the lower limbs (HP:0002166)2.55491732
39Amblyopia (HP:0000646)2.55214580
40Hypsarrhythmia (HP:0002521)2.54694699
41Papilledema (HP:0001085)2.48147011
42Dysmetria (HP:0001310)2.46139066
43Bundle branch block (HP:0011710)2.44305288
44Genetic anticipation (HP:0003743)2.43136697
45Papillary thyroid carcinoma (HP:0002895)2.38743420
46Ventricular fibrillation (HP:0001663)2.36987193
47Myotonia (HP:0002486)2.36400501
48Urinary urgency (HP:0000012)2.32604066
49Postural instability (HP:0002172)2.30581611
50Spastic gait (HP:0002064)2.28988671
51Hepatoblastoma (HP:0002884)2.28839754
52Abnormality of the corticospinal tract (HP:0002492)2.28302940
53Frequent falls (HP:0002359)2.26235048
54Postural tremor (HP:0002174)2.25075065
55Mutism (HP:0002300)2.24752515
56Cerebral inclusion bodies (HP:0100314)2.24610766
57Dysmetric saccades (HP:0000641)2.24499715
58Degeneration of the lateral corticospinal tracts (HP:0002314)2.20428133
59Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.20428133
60Muscle hypertrophy of the lower extremities (HP:0008968)2.19355570
61Impaired smooth pursuit (HP:0007772)2.17998921
62Abnormality of the lower motor neuron (HP:0002366)2.16186749
63Abnormal eating behavior (HP:0100738)2.15548193
64Fetal akinesia sequence (HP:0001989)2.15262352
65Scanning speech (HP:0002168)2.14034782
66Neurofibrillary tangles (HP:0002185)2.13992637
67Obstructive sleep apnea (HP:0002870)2.09029163
68Sudden death (HP:0001699)2.07925176
69Megalencephaly (HP:0001355)2.07337483
70Hemiparesis (HP:0001269)2.06819162
71Sleep apnea (HP:0010535)2.06187695
72Intention tremor (HP:0002080)2.04728783
73Protruding tongue (HP:0010808)2.04488578
74Hyporeflexia of lower limbs (HP:0002600)2.04422665
75Morphological abnormality of the pyramidal tract (HP:0002062)2.03665389
76Increased circulating renin level (HP:0000848)2.03352682
77Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.03188419
78Akinesia (HP:0002304)2.00641304
79Progressive inability to walk (HP:0002505)2.00183582
80Abnormality of calcium-phosphate metabolism (HP:0100530)2.00082043
81Gait imbalance (HP:0002141)1.99626858
82Bradykinesia (HP:0002067)1.98754863
83Absent speech (HP:0001344)1.98164201
84Lower limb muscle weakness (HP:0007340)1.97459993
85Calf muscle hypertrophy (HP:0008981)1.95998383
86Neoplasm of the peripheral nervous system (HP:0100007)1.94085356
87Prolonged QT interval (HP:0001657)1.93206089
88Neoplasm of the heart (HP:0100544)1.92306874
89Spastic tetraparesis (HP:0001285)1.87365273
90Exercise-induced muscle cramps (HP:0003710)1.87329911
91Abnormality of ocular smooth pursuit (HP:0000617)1.86319310
92Blue irides (HP:0000635)1.86103802
93Stereotypic behavior (HP:0000733)1.86042074
94Hypoventilation (HP:0002791)1.83270725
95Syncope (HP:0001279)1.82998465
96Difficulty running (HP:0009046)1.82886775
97EMG: neuropathic changes (HP:0003445)1.82385292
98Hypoplasia of the corpus callosum (HP:0002079)1.81556513
99Torticollis (HP:0000473)1.81471005
100Rapidly progressive (HP:0003678)1.81263073
101Abnormal EKG (HP:0003115)1.80523516
102Ulnar claw (HP:0001178)1.80070616
103Abnormality of the left ventricular outflow tract (HP:0011103)1.79487347
104Subaortic stenosis (HP:0001682)1.79487347
105Limb dystonia (HP:0002451)1.78723816
106Inappropriate behavior (HP:0000719)1.78286748
107Hemiplegia (HP:0002301)1.77540181
108Gait ataxia (HP:0002066)1.76843414
109Status epilepticus (HP:0002133)1.75772712
110Intellectual disability, severe (HP:0010864)1.75754899
111Failure to thrive in infancy (HP:0001531)1.75641860
112Spastic tetraplegia (HP:0002510)1.75408605
113Peripheral hypomyelination (HP:0007182)1.73872406
114Generalized myoclonic seizures (HP:0002123)1.73707204
115Abnormality of salivation (HP:0100755)1.73402676
116Clonus (HP:0002169)1.71652009
117Amyotrophic lateral sclerosis (HP:0007354)1.71600080
118Abnormality of the calf musculature (HP:0001430)1.71274805
119Abnormality of binocular vision (HP:0011514)1.71184829
120Diplopia (HP:0000651)1.71184829
121Pachygyria (HP:0001302)1.70526561
122Inability to walk (HP:0002540)1.69916691
123Hypercortisolism (HP:0001578)1.69293142
124Impaired vibratory sensation (HP:0002495)1.68614521
125Insomnia (HP:0100785)1.67535224
126Focal dystonia (HP:0004373)1.67417496

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.93507680
2MAP3K93.72033012
3MARK13.45994645
4EPHA43.09123982
5MAP3K42.86612488
6MINK12.31145167
7DAPK22.29023664
8PAK62.26273138
9NTRK12.26119284
10PRKD32.21739913
11MAP2K72.16306081
12KSR21.99837938
13PHKG11.99453887
14PHKG21.99453887
15MAP2K41.91340649
16CASK1.88148444
17NTRK21.87567525
18CAMKK11.64034999
19MAP3K21.53440222
20CAMKK21.50318023
21KSR11.49716350
22MAPK131.42113989
23CDK51.39834873
24PNCK1.37492067
25UHMK11.35989673
26PLK21.33897657
27GRK51.29411719
28RET1.16529858
29INSRR1.14916821
30PAK31.14549459
31CDK191.12267436
32DAPK11.11277205
33MAP3K121.07555659
34LATS21.07516322
35TNIK1.04608927
36TYRO31.04237481
37PRKCG1.04146346
38STK381.02331676
39MAP4K21.00996811
40RIPK41.00237999
41DYRK20.99344305
42SGK2230.98622952
43SGK4940.98622952
44PINK10.96933305
45SIK20.96726832
46CAMK2A0.96434288
47EPHA30.94559459
48PKN10.90490100
49PRKCH0.88295634
50FGFR20.83641521
51ARAF0.82489862
52TAOK10.81729274
53SGK20.81696118
54STK110.81506152
55WNK30.79689182
56WNK10.79679700
57CAMK10.78757963
58NME10.78579928
59LMTK20.78160311
60CAMK2B0.77006290
61SCYL20.76859351
62CSNK1G20.76578974
63CDK140.75549808
64CAMK1D0.74789891
65OXSR10.74764169
66SGK30.74497866
67MARK20.74281351
68CDC42BPA0.73997468
69PRPF4B0.73797723
70CDK180.73441241
71CDK150.72934729
72MAP3K10.72685158
73CAMK1G0.71439335
74DMPK0.68134487
75SGK10.66628215
76PRKCZ0.64567402
77DYRK1A0.63916924
78CAMK2D0.62724822
79AKT30.62161275
80FES0.61912803
81WNK40.60974242
82PTK2B0.60951730
83CDK11A0.60696114
84ALK0.60597984
85FER0.59448784
86PRKG10.58785380
87PRKCE0.58677421
88RIPK10.58346173
89PDPK10.57596729
90MAP3K70.57271179
91ERBB30.56650170
92PDK40.56151309
93PDK30.56151309
94CDK30.53754270
95FRK0.53560467
96OBSCN0.52969830
97CSNK1G10.52877916
98PDK10.52717332
99PDGFRA0.52680059
100CCNB10.52533311
101NEK10.52412584
102BMPR1B0.51271839
103CSNK1D0.51186756
104CAMK2G0.50251746
105RPS6KA30.50156891
106HIPK20.50062332
107PRKAA10.49633657
108MAP2K10.49212308
109BCR0.49046829
110TRIB30.47757138
111MAPK100.47622218
112RPS6KA20.47511004
113CAMK40.46884427
114PRKACA0.46491208
115PTK20.45959815
116BMPR20.45324885
117MAPK120.45163673
118ERBB20.41825629
119CSNK1G30.41588882
120CSNK1E0.41254093
121DYRK1B0.40137226
122CSNK1A1L0.39116296
123STK390.37664661
124PRKACB0.37387838
125NEK60.32943718
126FYN0.32736269

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.08971449
2Synaptic vesicle cycle_Homo sapiens_hsa047212.92512539
3Circadian entrainment_Homo sapiens_hsa047132.50812923
4Long-term potentiation_Homo sapiens_hsa047202.46553051
5GABAergic synapse_Homo sapiens_hsa047272.44061390
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.42047496
7Insulin secretion_Homo sapiens_hsa049112.41218799
8Glutamatergic synapse_Homo sapiens_hsa047242.28635583
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25019757
10Amphetamine addiction_Homo sapiens_hsa050312.20571214
11Morphine addiction_Homo sapiens_hsa050322.14758238
12Olfactory transduction_Homo sapiens_hsa047402.06654249
13Dopaminergic synapse_Homo sapiens_hsa047282.01302260
14Salivary secretion_Homo sapiens_hsa049701.96073110
15Cholinergic synapse_Homo sapiens_hsa047251.81929042
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.81165241
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.75945808
18Gastric acid secretion_Homo sapiens_hsa049711.75753675
19Taste transduction_Homo sapiens_hsa047421.72297359
20Long-term depression_Homo sapiens_hsa047301.66486363
21Type II diabetes mellitus_Homo sapiens_hsa049301.62557111
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.61409261
23Renin secretion_Homo sapiens_hsa049241.61046824
24Oxytocin signaling pathway_Homo sapiens_hsa049211.60696563
25Cocaine addiction_Homo sapiens_hsa050301.50766953
26Serotonergic synapse_Homo sapiens_hsa047261.47885158
27Calcium signaling pathway_Homo sapiens_hsa040201.44156511
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37912193
29GnRH signaling pathway_Homo sapiens_hsa049121.34539800
30Collecting duct acid secretion_Homo sapiens_hsa049661.31110933
31Cardiac muscle contraction_Homo sapiens_hsa042601.28148022
32Gap junction_Homo sapiens_hsa045401.26584641
33Estrogen signaling pathway_Homo sapiens_hsa049151.23669241
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.18390400
35cAMP signaling pathway_Homo sapiens_hsa040241.16922309
36Dilated cardiomyopathy_Homo sapiens_hsa054141.11834855
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.11255100
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10938468
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.10619826
40Axon guidance_Homo sapiens_hsa043601.09802595
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.09682722
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.08978271
43Vibrio cholerae infection_Homo sapiens_hsa051101.07456882
44Pancreatic secretion_Homo sapiens_hsa049721.04932516
45Glioma_Homo sapiens_hsa052141.03898661
46Vascular smooth muscle contraction_Homo sapiens_hsa042701.01652199
47Melanogenesis_Homo sapiens_hsa049160.97720545
48Carbohydrate digestion and absorption_Homo sapiens_hsa049730.93731918
49Circadian rhythm_Homo sapiens_hsa047100.92461670
50ErbB signaling pathway_Homo sapiens_hsa040120.92255719
51Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.91765815
52Glucagon signaling pathway_Homo sapiens_hsa049220.89219073
53Dorso-ventral axis formation_Homo sapiens_hsa043200.89065555
54Thyroid hormone synthesis_Homo sapiens_hsa049180.86966397
55Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.83103773
56Maturity onset diabetes of the young_Homo sapiens_hsa049500.82877840
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.82459433
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.79027766
59Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.74762055
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.73983700
61Oocyte meiosis_Homo sapiens_hsa041140.72967542
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.71189235
63mTOR signaling pathway_Homo sapiens_hsa041500.70872807
64Insulin signaling pathway_Homo sapiens_hsa049100.70869070
65MAPK signaling pathway_Homo sapiens_hsa040100.64498509
66Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.64279402
67Platelet activation_Homo sapiens_hsa046110.60628055
68Regulation of autophagy_Homo sapiens_hsa041400.60396094
69Choline metabolism in cancer_Homo sapiens_hsa052310.60011666
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.59860531
71Renal cell carcinoma_Homo sapiens_hsa052110.59066866
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57853286
73Alzheimers disease_Homo sapiens_hsa050100.57124035
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56964919
75Bile secretion_Homo sapiens_hsa049760.56472780
76Endometrial cancer_Homo sapiens_hsa052130.54927842
77Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53279921
78VEGF signaling pathway_Homo sapiens_hsa043700.52910892
79ABC transporters_Homo sapiens_hsa020100.52205718
80Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51953562
81Butanoate metabolism_Homo sapiens_hsa006500.51285641
82Inositol phosphate metabolism_Homo sapiens_hsa005620.50708977
83Hedgehog signaling pathway_Homo sapiens_hsa043400.47861936
84Prion diseases_Homo sapiens_hsa050200.47544171
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.47421782
86Ras signaling pathway_Homo sapiens_hsa040140.47320291
87Fatty acid biosynthesis_Homo sapiens_hsa000610.46521615
88Phototransduction_Homo sapiens_hsa047440.45745961
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44155689
90Nitrogen metabolism_Homo sapiens_hsa009100.42422153
91Tight junction_Homo sapiens_hsa045300.42249370
92Alcoholism_Homo sapiens_hsa050340.42244701
93Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41806715
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.41550502
95beta-Alanine metabolism_Homo sapiens_hsa004100.41549319
96Endocytosis_Homo sapiens_hsa041440.40817085
97Type I diabetes mellitus_Homo sapiens_hsa049400.40695412
98Ovarian steroidogenesis_Homo sapiens_hsa049130.40662443
99Central carbon metabolism in cancer_Homo sapiens_hsa052300.40294387
100FoxO signaling pathway_Homo sapiens_hsa040680.39850590
101Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.39624989
102AMPK signaling pathway_Homo sapiens_hsa041520.39470230
103Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39353526
104Rap1 signaling pathway_Homo sapiens_hsa040150.39317153
105Wnt signaling pathway_Homo sapiens_hsa043100.38732963
106Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.37593207
107Insulin resistance_Homo sapiens_hsa049310.37272792
108Non-small cell lung cancer_Homo sapiens_hsa052230.35909454
109Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35761449
110Colorectal cancer_Homo sapiens_hsa052100.35043019
111Adipocytokine signaling pathway_Homo sapiens_hsa049200.34715383
112Prolactin signaling pathway_Homo sapiens_hsa049170.32237979
113Hippo signaling pathway_Homo sapiens_hsa043900.31949514
114Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.31705373

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