SERPINI1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)5.95281510
2vocalization behavior (GO:0071625)5.84152485
3cellular potassium ion homeostasis (GO:0030007)5.43003840
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.30532928
5neuron cell-cell adhesion (GO:0007158)5.26843684
6glutamate secretion (GO:0014047)5.07579313
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.07483229
8neuronal action potential propagation (GO:0019227)5.02467938
9regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.01199737
10synaptic vesicle docking involved in exocytosis (GO:0016081)4.93793158
11negative regulation of synaptic transmission, GABAergic (GO:0032229)4.92115524
12sodium ion export (GO:0071436)4.86672457
13regulation of synaptic vesicle exocytosis (GO:2000300)4.86341672
14regulation of glutamate receptor signaling pathway (GO:1900449)4.83045037
15positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.68128774
16neurotransmitter secretion (GO:0007269)4.61892275
17protein localization to synapse (GO:0035418)4.59761510
18gamma-aminobutyric acid signaling pathway (GO:0007214)4.57999385
19neuron-neuron synaptic transmission (GO:0007270)4.50793857
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.44367213
21presynaptic membrane assembly (GO:0097105)4.42919756
22gamma-aminobutyric acid transport (GO:0015812)4.39034418
23ATP hydrolysis coupled proton transport (GO:0015991)4.38984710
24energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)4.38984710
25neurotransmitter-gated ion channel clustering (GO:0072578)4.32167210
26synaptic transmission, glutamatergic (GO:0035249)4.27071206
27L-amino acid import (GO:0043092)4.26906277
28regulation of synaptic vesicle transport (GO:1902803)4.23899252
29transferrin transport (GO:0033572)4.21822429
30glutamate receptor signaling pathway (GO:0007215)4.14423046
31locomotory exploration behavior (GO:0035641)4.10445297
32neuronal ion channel clustering (GO:0045161)4.03420610
33presynaptic membrane organization (GO:0097090)4.01946249
34positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.00884026
35negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.00601898
36long-term synaptic potentiation (GO:0060291)3.98789817
37central nervous system myelination (GO:0022010)3.96677014
38axon ensheathment in central nervous system (GO:0032291)3.96677014
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.94903802
40ferric iron transport (GO:0015682)3.93887328
41trivalent inorganic cation transport (GO:0072512)3.93887328
42positive regulation of neurotransmitter secretion (GO:0001956)3.92528337
43cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.91749100
44regulation of voltage-gated calcium channel activity (GO:1901385)3.91669460
45response to histamine (GO:0034776)3.89816640
46proline transport (GO:0015824)3.89507682
47postsynaptic membrane organization (GO:0001941)3.86563528
48potassium ion homeostasis (GO:0055075)3.82606851
49synaptic vesicle maturation (GO:0016188)3.81884534
50regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.78557614
51amino acid import (GO:0043090)3.76316846
52exploration behavior (GO:0035640)3.75159961
53neurotransmitter transport (GO:0006836)3.74121769
54regulation of vesicle fusion (GO:0031338)3.72578289
55regulation of synaptic transmission, glutamatergic (GO:0051966)3.68391203
56regulation of long-term neuronal synaptic plasticity (GO:0048169)3.68097401
57startle response (GO:0001964)3.66982141
58NADH metabolic process (GO:0006734)3.66439952
59positive regulation of synapse maturation (GO:0090129)3.63039947
60potassium ion import (GO:0010107)3.62858600
61regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.60263327
62neuron recognition (GO:0008038)3.59780637
63neurotransmitter uptake (GO:0001504)3.59725936
64positive regulation of dendritic spine development (GO:0060999)3.55989170
65regulation of excitatory postsynaptic membrane potential (GO:0060079)3.52893209
66positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.46699758
67dendritic spine morphogenesis (GO:0060997)3.46489295
68membrane depolarization during action potential (GO:0086010)3.42318183
69regulation of neuronal synaptic plasticity (GO:0048168)3.41708398
70regulation of synaptic transmission, GABAergic (GO:0032228)3.41553370
71cellular sodium ion homeostasis (GO:0006883)3.41496852
72behavioral response to cocaine (GO:0048148)3.41032124
73regulation of neurotransmitter levels (GO:0001505)3.40654660
74regulation of dendritic spine morphogenesis (GO:0061001)3.40380612
75succinate metabolic process (GO:0006105)3.37770219
76positive regulation of synapse assembly (GO:0051965)3.36745814
77positive regulation of neurotransmitter transport (GO:0051590)3.36197052
78regulation of postsynaptic membrane potential (GO:0060078)3.35845046
79regulation of neurotransmitter secretion (GO:0046928)3.35796534
80detection of calcium ion (GO:0005513)3.33978973
81serotonin metabolic process (GO:0042428)3.33762405
82positive regulation of membrane potential (GO:0045838)3.32665381
83positive regulation of dendritic spine morphogenesis (GO:0061003)3.31867013
84cell communication by electrical coupling (GO:0010644)3.30407916
85G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.29831799
86neuromuscular process controlling balance (GO:0050885)3.28042809
87layer formation in cerebral cortex (GO:0021819)3.24242073
88regulation of synaptic plasticity (GO:0048167)3.24107006
89regulation of dendritic spine development (GO:0060998)3.22045055
90synaptic vesicle endocytosis (GO:0048488)3.21112652
91acidic amino acid transport (GO:0015800)3.20850771
92long-term memory (GO:0007616)3.18744527
93cerebellar Purkinje cell differentiation (GO:0021702)3.18375003
94cerebellar Purkinje cell layer development (GO:0021680)3.17409369
95regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.17368609
96regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.17368609
97regulation of ARF protein signal transduction (GO:0032012)3.17119855
98synaptic transmission (GO:0007268)3.16558426
99regulation of neurotransmitter transport (GO:0051588)3.15268881
100transmission of nerve impulse (GO:0019226)3.14010757
101striatum development (GO:0021756)3.13908082
102vesicle docking involved in exocytosis (GO:0006904)3.12799551
103positive regulation of synaptic transmission (GO:0050806)3.12446601
104regulation of synaptic transmission, dopaminergic (GO:0032225)3.11890434
105neuromuscular process controlling posture (GO:0050884)3.11280871
106mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.11159788
107regulation of glutamate secretion (GO:0014048)3.09668576
108phagosome maturation (GO:0090382)3.07433154
109regulation of exocytosis (GO:0017157)3.07350887
110oxaloacetate metabolic process (GO:0006107)3.07204693
111auditory behavior (GO:0031223)3.06032604
112regulation of synapse structural plasticity (GO:0051823)3.05983327
113positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.05211060
114negative regulation of dendrite morphogenesis (GO:0050774)3.05166110
115serotonin receptor signaling pathway (GO:0007210)3.04946850
116G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.04038892
117signal release (GO:0023061)3.03461814
118response to cocaine (GO:0042220)3.03085106
119neuromuscular synaptic transmission (GO:0007274)3.02743417
120behavioral fear response (GO:0001662)3.02281096
121behavioral defense response (GO:0002209)3.02281096
122synapse assembly (GO:0007416)3.02096674
123female mating behavior (GO:0060180)3.00861191
124regulation of calcium ion-dependent exocytosis (GO:0017158)3.00613192
125synaptic vesicle transport (GO:0048489)3.00507804
126establishment of synaptic vesicle localization (GO:0097480)3.00507804
127regulation of synapse maturation (GO:0090128)2.99835984
128membrane depolarization (GO:0051899)2.99152114
129learning (GO:0007612)2.99086125
130dendritic spine organization (GO:0097061)2.98734531
131regulation of synaptic transmission (GO:0050804)2.98666758
132primary amino compound metabolic process (GO:1901160)2.96451585
133positive regulation of synaptic transmission, GABAergic (GO:0032230)2.95855697
134cerebellar granule cell differentiation (GO:0021707)2.95218535
135mechanosensory behavior (GO:0007638)2.93715962
136axonal fasciculation (GO:0007413)2.90484774
137activation of protein kinase A activity (GO:0034199)2.89573447

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.78930720
2GBX2_23144817_ChIP-Seq_PC3_Human4.68336034
3TAF15_26573619_Chip-Seq_HEK293_Human3.24040399
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07607237
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.96241380
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.85857886
7REST_21632747_ChIP-Seq_MESCs_Mouse2.61272016
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.55093552
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.55031255
10CTBP2_25329375_ChIP-Seq_LNCAP_Human2.45502826
11NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.42153411
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.38993123
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.38756544
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.35098104
15RNF2_18974828_ChIP-Seq_MESCs_Mouse2.33775164
16EZH2_18974828_ChIP-Seq_MESCs_Mouse2.33775164
17JARID2_20075857_ChIP-Seq_MESCs_Mouse2.33169840
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.31972384
19CTBP1_25329375_ChIP-Seq_LNCAP_Human2.23515657
20SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.20591709
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.20537785
22MTF2_20144788_ChIP-Seq_MESCs_Mouse2.19971102
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.19962595
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.12035687
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10872613
26SMAD4_21799915_ChIP-Seq_A2780_Human1.98578216
27P300_19829295_ChIP-Seq_ESCs_Human1.97624817
28RARB_27405468_Chip-Seq_BRAIN_Mouse1.93518934
29AR_21572438_ChIP-Seq_LNCaP_Human1.92726459
30EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.91513901
31SUZ12_27294783_Chip-Seq_ESCs_Mouse1.88050415
32* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.86070526
33RNF2_27304074_Chip-Seq_ESCs_Mouse1.84956694
34FUS_26573619_Chip-Seq_HEK293_Human1.82947789
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.81868804
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.80607835
37EZH2_27294783_Chip-Seq_ESCs_Mouse1.79959856
38CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.79334331
39RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.78676606
40GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.76885109
41DROSHA_22980978_ChIP-Seq_HELA_Human1.73218774
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71274139
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.67874260
44IKZF1_21737484_ChIP-ChIP_HCT116_Human1.67556643
45IGF1R_20145208_ChIP-Seq_DFB_Human1.65790601
46CBX2_27304074_Chip-Seq_ESCs_Mouse1.62616938
47TOP2B_26459242_ChIP-Seq_MCF-7_Human1.61070186
48VDR_22108803_ChIP-Seq_LS180_Human1.59716973
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.57221405
50OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.56881028
51AR_25329375_ChIP-Seq_VCAP_Human1.53609650
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.52207488
53* RNF2_27304074_Chip-Seq_NSC_Mouse1.46614404
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.46551802
55SOX2_21211035_ChIP-Seq_LN229_Gbm1.45881896
56SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43262410
57ER_23166858_ChIP-Seq_MCF-7_Human1.40543253
58ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.38374196
59ZNF274_21170338_ChIP-Seq_K562_Hela1.36620962
60MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.34090234
61UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.33362039
62PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32231530
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.32145804
64* STAT3_23295773_ChIP-Seq_U87_Human1.29669367
65DNAJC2_21179169_ChIP-ChIP_NT2_Human1.29573461
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.28128613
67SMAD_19615063_ChIP-ChIP_OVARY_Human1.28114643
68* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.24956541
69RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.24494404
70* TCF4_23295773_ChIP-Seq_U87_Human1.23732068
71JUN_21703547_ChIP-Seq_K562_Human1.20642288
72NANOG_18555785_Chip-Seq_ESCs_Mouse1.17967867
73RUNX2_22187159_ChIP-Seq_PCA_Human1.17838264
74CDX2_19796622_ChIP-Seq_MESCs_Mouse1.17547083
75ARNT_22903824_ChIP-Seq_MCF-7_Human1.17060115
76CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16946915
77TET1_21490601_ChIP-Seq_MESCs_Mouse1.14452665
78ERG_21242973_ChIP-ChIP_JURKAT_Human1.13341608
79PRDM14_20953172_ChIP-Seq_ESCs_Human1.12976986
80WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12871743
81PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.11275221
82TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09971669
83ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08260610
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07930097
85FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.07004893
86P53_22127205_ChIP-Seq_FIBROBLAST_Human1.06884780
87MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05680300
88FLI1_27457419_Chip-Seq_LIVER_Mouse1.05104959
89AHR_22903824_ChIP-Seq_MCF-7_Human1.04773613
90AR_19668381_ChIP-Seq_PC3_Human1.04605711
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03458123
92KDM2B_26808549_Chip-Seq_REH_Human1.02482613
93POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01970720
94TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01970720
95CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.01696744
96EWS_26573619_Chip-Seq_HEK293_Human1.00134324
97CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.98233055
98BCAT_22108803_ChIP-Seq_LS180_Human0.97916551
99P53_22387025_ChIP-Seq_ESCs_Mouse0.97796117
100TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97125880
101IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97093564
102CBP_20019798_ChIP-Seq_JUKART_Human0.97093564
103EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97049148
104HTT_18923047_ChIP-ChIP_STHdh_Human0.96641433
105RING1B_27294783_Chip-Seq_ESCs_Mouse0.95952495
106* E2F1_18555785_Chip-Seq_ESCs_Mouse0.95472014
107SOX9_26525672_Chip-Seq_HEART_Mouse0.95420993
108* RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.95217745
109TP53_18474530_ChIP-ChIP_U2OS_Human0.94721995
110MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94311102
111LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91988905
112PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.91292294
113RING1B_27294783_Chip-Seq_NPCs_Mouse0.86636015
114* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.86573875
115KDM2B_26808549_Chip-Seq_K562_Human0.86042538
116CTCF_27219007_Chip-Seq_Bcells_Human0.85992640
117SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84078554
118EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.83459568
119OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.83323821
120GATA1_26923725_Chip-Seq_HPCs_Mouse0.80637534
121DPY_21335234_ChIP-Seq_ESCs_Mouse0.80226060
122CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.79525462
123SRY_22984422_ChIP-ChIP_TESTIS_Rat0.78542878
124SMAD4_21741376_ChIP-Seq_HESCs_Human0.77039392

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.12854882
2MP0003880_abnormal_central_pattern4.80539626
3MP0003635_abnormal_synaptic_transmissio4.03384497
4MP0009046_muscle_twitch3.78118477
5MP0009745_abnormal_behavioral_response3.63000501
6MP0002064_seizures3.49451966
7* MP0002063_abnormal_learning/memory/cond3.25168558
8MP0004270_analgesia3.20344416
9MP0001968_abnormal_touch/_nociception3.11085075
10* MP0002572_abnormal_emotion/affect_behav2.98463395
11MP0002822_catalepsy2.87517304
12MP0002272_abnormal_nervous_system2.84157676
13MP0002736_abnormal_nociception_after2.83183759
14MP0001501_abnormal_sleep_pattern2.60690389
15MP0002734_abnormal_mechanical_nocicepti2.59518529
16MP0002735_abnormal_chemical_nociception2.49626812
17MP0001486_abnormal_startle_reflex2.49340506
18MP0001440_abnormal_grooming_behavior2.21265644
19MP0002067_abnormal_sensory_capabilities2.20340739
20MP0003787_abnormal_imprinting2.15481906
21MP0002837_dystrophic_cardiac_calcinosis2.15380350
22MP0005646_abnormal_pituitary_gland2.12894431
23MP0006276_abnormal_autonomic_nervous2.11578192
24MP0002733_abnormal_thermal_nociception1.98986672
25MP0003122_maternal_imprinting1.95958735
26MP0001970_abnormal_pain_threshold1.94931349
27MP0009780_abnormal_chondrocyte_physiolo1.92460913
28MP0001529_abnormal_vocalization1.88451460
29MP0005423_abnormal_somatic_nervous1.86139981
30MP0002184_abnormal_innervation1.80712616
31MP0004924_abnormal_behavior1.79007278
32MP0005386_behavior/neurological_phenoty1.79007278
33MP0008569_lethality_at_weaning1.75737039
34MP0001984_abnormal_olfaction1.75617132
35MP0003879_abnormal_hair_cell1.74464824
36MP0004142_abnormal_muscle_tone1.72554348
37MP0002557_abnormal_social/conspecific_i1.71839565
38MP0001188_hyperpigmentation1.67183314
39MP0001905_abnormal_dopamine_level1.64687528
40MP0000778_abnormal_nervous_system1.61497998
41MP0002876_abnormal_thyroid_physiology1.58921176
42MP0003123_paternal_imprinting1.55120039
43MP0003690_abnormal_glial_cell1.51930134
44MP0000920_abnormal_myelination1.50807481
45MP0004811_abnormal_neuron_physiology1.49690809
46* MP0002066_abnormal_motor_capabilities/c1.39350545
47MP0002909_abnormal_adrenal_gland1.35190927
48MP0000955_abnormal_spinal_cord1.34554244
49MP0010386_abnormal_urinary_bladder1.34549530
50MP0002882_abnormal_neuron_morphology1.29015767
51MP0001986_abnormal_taste_sensitivity1.25554799
52MP0003329_amyloid_beta_deposits1.22333264
53MP0005645_abnormal_hypothalamus_physiol1.20770959
54MP0000013_abnormal_adipose_tissue1.16790308
55MP0000751_myopathy1.11764721
56MP0004215_abnormal_myocardial_fiber0.99775854
57MP0002152_abnormal_brain_morphology0.98485642
58MP0004484_altered_response_of0.98396458
59MP0001502_abnormal_circadian_rhythm0.98268418
60MP0000604_amyloidosis0.97391208
61MP0001963_abnormal_hearing_physiology0.96837188
62MP0003633_abnormal_nervous_system0.96209557
63MP0005394_taste/olfaction_phenotype0.94369226
64MP0005499_abnormal_olfactory_system0.94369226
65MP0005551_abnormal_eye_electrophysiolog0.92187068
66MP0008872_abnormal_physiological_respon0.91979607
67MP0008877_abnormal_DNA_methylation0.91969137
68MP0003646_muscle_fatigue0.91695881
69MP0002069_abnormal_eating/drinking_beha0.91217433
70MP0003631_nervous_system_phenotype0.89722533
71MP0004858_abnormal_nervous_system0.89191842
72MP0003183_abnormal_peptide_metabolism0.88978315
73MP0004085_abnormal_heartbeat0.87129256
74MP0002229_neurodegeneration0.86961850
75MP0001485_abnormal_pinna_reflex0.85318690
76MP0003121_genomic_imprinting0.85136885
77MP0005535_abnormal_body_temperature0.84665765
78MP0008874_decreased_physiological_sensi0.83315299
79MP0003075_altered_response_to0.82574286
80MP0000631_abnormal_neuroendocrine_gland0.82233350
81MP0001664_abnormal_digestion0.80964858
82MP0002638_abnormal_pupillary_reflex0.75549655
83MP0004885_abnormal_endolymph0.75258289
84MP0005171_absent_coat_pigmentation0.70841787
85MP0002752_abnormal_somatic_nervous0.70331239
86MP0003172_abnormal_lysosome_physiology0.69470582
87MP0001177_atelectasis0.67731149
88MP0003632_abnormal_nervous_system0.67437989
89MP0004233_abnormal_muscle_weight0.67379552
90MP0004742_abnormal_vestibular_system0.66325303
91MP0006035_abnormal_mitochondrial_morpho0.66081632
92MP0005167_abnormal_blood-brain_barrier0.66056944
93MP0000639_abnormal_adrenal_gland0.64343160
94MP0004036_abnormal_muscle_relaxation0.60199140
95MP0000569_abnormal_digit_pigmentation0.59408403
96MP0002332_abnormal_exercise_endurance0.59060797
97MP0000026_abnormal_inner_ear0.58787269
98MP0003634_abnormal_glial_cell0.57536673
99MP0004145_abnormal_muscle_electrophysio0.57156568
100MP0001943_abnormal_respiration0.56958916
101MP0002090_abnormal_vision0.56232223
102MP0002082_postnatal_lethality0.55912659
103MP0010770_preweaning_lethality0.55912659
104MP0003137_abnormal_impulse_conducting0.55555622
105MP0001346_abnormal_lacrimal_gland0.55538881
106MP0004043_abnormal_pH_regulation0.55512069
107MP0003283_abnormal_digestive_organ0.54728509
108MP0004147_increased_porphyrin_level0.54340853
109MP0010769_abnormal_survival0.53106351
110MP0002653_abnormal_ependyma_morphology0.51092175
111MP0010768_mortality/aging0.50326545
112MP0005623_abnormal_meninges_morphology0.49410094
113MP0003956_abnormal_body_size0.48027383
114MP0001348_abnormal_lacrimal_gland0.44804237
115MP0001765_abnormal_ion_homeostasis0.44320175
116MP0001299_abnormal_eye_distance/0.42072202
117MP0000579_abnormal_nail_morphology0.40994458

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.63846275
2Atonic seizures (HP:0010819)6.99338548
3Febrile seizures (HP:0002373)5.98182001
4Focal seizures (HP:0007359)5.56933192
5Epileptic encephalopathy (HP:0200134)5.54304293
6Absence seizures (HP:0002121)5.04149328
7Myokymia (HP:0002411)4.91079571
8Hyperventilation (HP:0002883)4.82650738
9Dialeptic seizures (HP:0011146)4.51111583
10Visual hallucinations (HP:0002367)4.31319749
11Generalized tonic-clonic seizures (HP:0002069)4.10776039
12Progressive cerebellar ataxia (HP:0002073)3.86331792
13Abnormal hair whorl (HP:0010721)3.54798036
14Papilledema (HP:0001085)3.54648999
15Pheochromocytoma (HP:0002666)3.50707950
16Cerebral hypomyelination (HP:0006808)3.50568301
17Acute necrotizing encephalopathy (HP:0006965)3.47233719
18Progressive inability to walk (HP:0002505)3.46317850
19Neurofibrillary tangles (HP:0002185)3.45309456
20Intention tremor (HP:0002080)3.41408014
21Abnormal mitochondria in muscle tissue (HP:0008316)3.40376668
22Mutism (HP:0002300)3.39751301
23Abnormality of the corticospinal tract (HP:0002492)3.38443881
24Broad-based gait (HP:0002136)3.30375318
25Neuroendocrine neoplasm (HP:0100634)3.25329628
26Delusions (HP:0000746)3.17549697
27Progressive macrocephaly (HP:0004481)3.14088096
28Degeneration of the lateral corticospinal tracts (HP:0002314)3.13678742
29Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.13678742
30Polyphagia (HP:0002591)3.10307600
31* Abnormality of binocular vision (HP:0011514)3.09343884
32* Diplopia (HP:0000651)3.09343884
33Gaze-evoked nystagmus (HP:0000640)3.08344522
34Abnormal eating behavior (HP:0100738)3.03488417
35Tetraplegia (HP:0002445)3.03354548
36Craniofacial dystonia (HP:0012179)2.96356268
37Gait imbalance (HP:0002141)2.91846421
38Epileptiform EEG discharges (HP:0011182)2.91532109
39Impaired vibration sensation in the lower limbs (HP:0002166)2.88839139
40Inability to walk (HP:0002540)2.84743758
41Cerebral inclusion bodies (HP:0100314)2.81436305
42Hemiplegia (HP:0002301)2.80372944
43Limb dystonia (HP:0002451)2.79554016
44Lower limb muscle weakness (HP:0007340)2.79156011
45Failure to thrive in infancy (HP:0001531)2.79057572
46Mitochondrial inheritance (HP:0001427)2.77743199
47Amblyopia (HP:0000646)2.76697012
48Truncal ataxia (HP:0002078)2.75899831
49Dysdiadochokinesis (HP:0002075)2.72138037
50Impaired social interactions (HP:0000735)2.68003983
51Abnormal social behavior (HP:0012433)2.68003983
52EEG with generalized epileptiform discharges (HP:0011198)2.67693919
53Poor suck (HP:0002033)2.67395596
54Medial flaring of the eyebrow (HP:0010747)2.65931958
55Poor eye contact (HP:0000817)2.65443816
56Congenital primary aphakia (HP:0007707)2.64535899
57Acute encephalopathy (HP:0006846)2.63998493
58Choreoathetosis (HP:0001266)2.57834552
59Anxiety (HP:0000739)2.56207723
60Nephrogenic diabetes insipidus (HP:0009806)2.54919988
61Drooling (HP:0002307)2.53896397
62Excessive salivation (HP:0003781)2.53896397
63Resting tremor (HP:0002322)2.51899370
64Hypsarrhythmia (HP:0002521)2.51847452
65Oligomenorrhea (HP:0000876)2.49572891
66Clonus (HP:0002169)2.48368469
67Depression (HP:0000716)2.45386902
68Fetal akinesia sequence (HP:0001989)2.44851797
69Sleep apnea (HP:0010535)2.44809345
70Increased CSF lactate (HP:0002490)2.44671824
71Rigidity (HP:0002063)2.43359445
72Spastic tetraparesis (HP:0001285)2.36489655
73Absent speech (HP:0001344)2.36485994
74Abnormality of the labia minora (HP:0012880)2.35147279
75Protruding tongue (HP:0010808)2.34084059
76CNS hypomyelination (HP:0003429)2.33803225
77Abnormality of glycolysis (HP:0004366)2.33395101
78Increased serum pyruvate (HP:0003542)2.33395101
79Dysmetria (HP:0001310)2.31755132
80Annular pancreas (HP:0001734)2.31453742
81Status epilepticus (HP:0002133)2.31150715
82Morphological abnormality of the pyramidal tract (HP:0002062)2.29702254
83Scanning speech (HP:0002168)2.28846611
84Hepatocellular necrosis (HP:0001404)2.27274017
85Generalized myoclonic seizures (HP:0002123)2.26059885
86Obstructive sleep apnea (HP:0002870)2.24887850
87Apathy (HP:0000741)2.24877563
88Blue irides (HP:0000635)2.21386728
89Specific learning disability (HP:0001328)2.20054079
90Ventricular fibrillation (HP:0001663)2.18711979
91Bradykinesia (HP:0002067)2.13455198
92Peripheral hypomyelination (HP:0007182)2.12987517
93Action tremor (HP:0002345)2.11475762
94Abnormality of the lower motor neuron (HP:0002366)2.10123957
95Esotropia (HP:0000565)2.09321579
96Genital tract atresia (HP:0001827)2.07339399
97Narrow nasal bridge (HP:0000446)2.07272054
98Hemiparesis (HP:0001269)2.07147784
99Hyperthyroidism (HP:0000836)2.06881242
100Increased circulating renin level (HP:0000848)2.05816620
101Diminished motivation (HP:0000745)2.04880608
102Vaginal atresia (HP:0000148)2.03502587
103Dysmetric saccades (HP:0000641)2.03296473
104Abnormality of ocular smooth pursuit (HP:0000617)2.02601485
105Ankle clonus (HP:0011448)2.01614484
106Optic disc pallor (HP:0000543)2.01253989
107Incomplete penetrance (HP:0003829)2.00182669
108Neoplasm of the peripheral nervous system (HP:0100007)1.96471247
109Poor coordination (HP:0002370)1.96341442
110Absent/shortened dynein arms (HP:0200106)1.94831638
111Dynein arm defect of respiratory motile cilia (HP:0012255)1.94831638
112Impaired smooth pursuit (HP:0007772)1.94467163
113Bundle branch block (HP:0011710)1.94214816
114Muscular hypotonia of the trunk (HP:0008936)1.93817412
115Impaired vibratory sensation (HP:0002495)1.93329144
116Hypoventilation (HP:0002791)1.92776483
117Akinesia (HP:0002304)1.91335913
118Spastic tetraplegia (HP:0002510)1.90224129
119* Neuronal loss in central nervous system (HP:0002529)1.88620564
120Diminished movement (HP:0002374)1.88462737
121Abnormality of saccadic eye movements (HP:0000570)1.86529589
122Impaired pain sensation (HP:0007328)1.86301584
123Abnormality of pain sensation (HP:0010832)1.86301584
124Hypothermia (HP:0002045)1.85523380
125Focal dystonia (HP:0004373)1.84525760
126Postural tremor (HP:0002174)1.84021169
127Urinary bladder sphincter dysfunction (HP:0002839)1.83756807
128Sensory axonal neuropathy (HP:0003390)1.83245266
129Abnormality of aromatic amino acid family metabolism (HP:0004338)1.82810548
130Rapidly progressive (HP:0003678)1.82733462
131Gait ataxia (HP:0002066)1.82447279
132Supranuclear gaze palsy (HP:0000605)1.82389119
133X-linked dominant inheritance (HP:0001423)1.80841936
134Psychosis (HP:0000709)1.80452518
135Generalized hypotonia (HP:0001290)1.79775875
136Heterochromia iridis (HP:0001100)1.78882663
137Syncope (HP:0001279)1.78058558
138Urinary urgency (HP:0000012)1.77889999
139Genetic anticipation (HP:0003743)1.77670133
140Torticollis (HP:0000473)1.76407052
141Postural instability (HP:0002172)1.75684178
142Spastic gait (HP:0002064)1.75461431
143Leukodystrophy (HP:0002415)1.74157993
144Termporal pattern (HP:0011008)1.73690079
145Paraplegia (HP:0010550)1.73401715
146Unsteady gait (HP:0002317)1.70378499
147Abnormal EKG (HP:0003115)1.70241718
148Memory impairment (HP:0002354)1.69435372

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.69974515
2MAP3K123.91656006
3MAP3K43.84647175
4MAP2K73.84574707
5NTRK33.66622754
6CDK192.70356919
7EPHA42.64641454
8MAP3K92.51682445
9MAP2K42.41435882
10TSSK62.29006335
11MARK12.25837750
12PLK22.20395474
13MINK12.18472041
14AKT32.12357618
15DAPK11.95633497
16PINK11.85517030
17DAPK21.74224895
18GRK51.72737901
19NTRK21.66508464
20PDK31.64173505
21PDK41.64173505
22PNCK1.61095064
23OXSR11.57574502
24ARAF1.51798268
25RIPK41.50585224
26NME11.46717915
27CCNB11.40837890
28PRPF4B1.34851057
29PRKCG1.32254046
30MAPK131.30013911
31CDK51.20105596
32SGK21.13411144
33CAMK2A1.11749123
34KSR11.08110880
35ERBB41.07419824
36TNIK1.05369019
37SGK2231.03613472
38SGK4941.03613472
39PAK61.02453393
40GRK70.99962231
41FES0.99009421
42CAMK2B0.98421867
43SIK30.98165668
44BRAF0.97027772
45PDK20.96685077
46PTK2B0.95220112
47PRKCE0.93474507
48NTRK10.92256520
49BMPR20.89439368
50NEK60.87720146
51KSR20.85194041
52SIK20.81535739
53LIMK10.81387201
54CDK80.81143200
55ADRBK20.80733610
56TESK10.80664367
57ALK0.77667161
58MAP3K110.76568561
59CDK180.74664481
60MAPK120.74370349
61BRSK10.71561433
62MAP3K60.71393559
63PKN10.71139624
64TYRO30.71057906
65WNK30.70559034
66MYLK0.69500515
67CAMKK20.69401820
68SGK30.68911377
69CDK140.68517451
70UHMK10.68383288
71CDK150.68069850
72DYRK1A0.67492242
73CAMKK10.67464157
74FGFR20.67340055
75CAMK40.66146921
76CSNK1G20.65173071
77BMPR1B0.64559089
78FGR0.61090166
79ADRBK10.61067903
80TNK20.58058751
81CAMK2D0.57141011
82CDK11A0.56326408
83MAPK100.55995543
84SGK10.55565590
85BCR0.54338046
86CSNK1G30.54011414
87PRKCZ0.53538744
88CAMK2G0.53108605
89FER0.52693210
90MARK20.51490129
91MUSK0.51303135
92MAP2K10.48755456
93RAF10.46389165
94MAP2K60.46187966
95GRK60.45460450
96PRKCH0.44725545
97NEK10.44645953
98PHKG10.44194452
99PHKG20.44194452
100STK110.44027553
101PRKCA0.44013766
102RIPK10.43140599
103MAP3K130.42968389
104CAMK10.42065483
105STK390.42034558
106MAPKAPK50.41405369
107FYN0.40444275
108STK380.38772285
109MAP3K20.37761861
110PDK10.37444378
111PAK30.37198205
112PRKACA0.36766036
113PRKG10.36757324
114ROCK20.36244274
115CSNK1G10.34991777
116RPS6KA30.33754673
117DAPK30.33486790
118PDPK10.33435566
119CSNK1E0.32603837
120PRKD30.32188503
121RET0.31463967
122RPS6KA20.30952784
123LATS20.30736420
124PRKCB0.30258219
125PLK30.30062346
126CSNK1D0.29985737
127CSNK1A10.29650797
128MKNK20.29420217

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.38357164
2Synaptic vesicle cycle_Homo sapiens_hsa047214.19078780
3Collecting duct acid secretion_Homo sapiens_hsa049663.67530474
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.92286420
5GABAergic synapse_Homo sapiens_hsa047272.79429698
6Morphine addiction_Homo sapiens_hsa050322.50800606
7Oxidative phosphorylation_Homo sapiens_hsa001902.45574939
8Vibrio cholerae infection_Homo sapiens_hsa051102.30857715
9Circadian entrainment_Homo sapiens_hsa047132.29731806
10Long-term potentiation_Homo sapiens_hsa047202.27624525
11Olfactory transduction_Homo sapiens_hsa047402.26453262
12Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.25294477
13Amphetamine addiction_Homo sapiens_hsa050312.21476625
14Glutamatergic synapse_Homo sapiens_hsa047242.19428287
15Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.03306587
16Dopaminergic synapse_Homo sapiens_hsa047282.00386360
17Taste transduction_Homo sapiens_hsa047421.99380707
18Serotonergic synapse_Homo sapiens_hsa047261.78894448
19Salivary secretion_Homo sapiens_hsa049701.73962810
20Insulin secretion_Homo sapiens_hsa049111.71860499
21Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.70382647
22Parkinsons disease_Homo sapiens_hsa050121.65681657
23Long-term depression_Homo sapiens_hsa047301.61473652
24Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.56119686
25Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.54104095
26Alzheimers disease_Homo sapiens_hsa050101.51198421
27Renin secretion_Homo sapiens_hsa049241.45428738
28Calcium signaling pathway_Homo sapiens_hsa040201.44484776
29Cholinergic synapse_Homo sapiens_hsa047251.43158708
30Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.40815746
31Cocaine addiction_Homo sapiens_hsa050301.39193557
32Gastric acid secretion_Homo sapiens_hsa049711.34619547
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.30772833
34Aldosterone synthesis and secretion_Homo sapiens_hsa049251.24182887
35Oxytocin signaling pathway_Homo sapiens_hsa049211.18665199
36Rheumatoid arthritis_Homo sapiens_hsa053231.18148022
37Cardiac muscle contraction_Homo sapiens_hsa042601.17404013
38Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.13928219
39Huntingtons disease_Homo sapiens_hsa050161.11934024
40Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.10347797
41Type I diabetes mellitus_Homo sapiens_hsa049401.09407906
42Gap junction_Homo sapiens_hsa045401.08807202
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.01603344
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.01403796
45Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.97737939
46Pyruvate metabolism_Homo sapiens_hsa006200.94762508
47GnRH signaling pathway_Homo sapiens_hsa049120.89996792
48cAMP signaling pathway_Homo sapiens_hsa040240.87943201
49Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86649878
50Phototransduction_Homo sapiens_hsa047440.85617390
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.83822275
52Phosphatidylinositol signaling system_Homo sapiens_hsa040700.83159931
53Estrogen signaling pathway_Homo sapiens_hsa049150.81342301
54Phagosome_Homo sapiens_hsa041450.79648678
55ErbB signaling pathway_Homo sapiens_hsa040120.78396928
56Axon guidance_Homo sapiens_hsa043600.78229358
57cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76326461
58Bile secretion_Homo sapiens_hsa049760.75477386
59Type II diabetes mellitus_Homo sapiens_hsa049300.73065120
60Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.72901617
61Butanoate metabolism_Homo sapiens_hsa006500.71922790
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.69637933
63Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.66481331
64Arginine biosynthesis_Homo sapiens_hsa002200.65885573
65Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.62537392
66Melanogenesis_Homo sapiens_hsa049160.61688762
67Pancreatic secretion_Homo sapiens_hsa049720.59949479
68Glioma_Homo sapiens_hsa052140.57581239
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56220496
70Arginine and proline metabolism_Homo sapiens_hsa003300.54070135
71Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53110462
72Histidine metabolism_Homo sapiens_hsa003400.49802712
73MAPK signaling pathway_Homo sapiens_hsa040100.49710973
74Glucagon signaling pathway_Homo sapiens_hsa049220.47785351
75Oocyte meiosis_Homo sapiens_hsa041140.46769528
76Nitrogen metabolism_Homo sapiens_hsa009100.46173932
77Thyroid hormone synthesis_Homo sapiens_hsa049180.46066970
78Mineral absorption_Homo sapiens_hsa049780.45488242
79Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.44840043
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43658950
81beta-Alanine metabolism_Homo sapiens_hsa004100.43339368
82Folate biosynthesis_Homo sapiens_hsa007900.41838096
83Inositol phosphate metabolism_Homo sapiens_hsa005620.41398577
84Dilated cardiomyopathy_Homo sapiens_hsa054140.41134592
85Alcoholism_Homo sapiens_hsa050340.39099177
86Ras signaling pathway_Homo sapiens_hsa040140.38410857
87Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.38304610
88Prion diseases_Homo sapiens_hsa050200.38139471
89Fatty acid biosynthesis_Homo sapiens_hsa000610.33860117
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.33066133
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31368553
92Melanoma_Homo sapiens_hsa052180.26817692
93VEGF signaling pathway_Homo sapiens_hsa043700.26612125
94Rap1 signaling pathway_Homo sapiens_hsa040150.24611765
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.24152912
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24093742
97Ether lipid metabolism_Homo sapiens_hsa005650.23839967
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.23503854
99Dorso-ventral axis formation_Homo sapiens_hsa043200.22362592
100African trypanosomiasis_Homo sapiens_hsa051430.21691665
101Fatty acid elongation_Homo sapiens_hsa000620.20267731
102Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.19916883
103Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.19601446
104Vitamin B6 metabolism_Homo sapiens_hsa007500.19504901
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.19403694
106Choline metabolism in cancer_Homo sapiens_hsa052310.19343501
107Phospholipase D signaling pathway_Homo sapiens_hsa040720.18783783
108Insulin signaling pathway_Homo sapiens_hsa049100.16862784
109Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.16354033
110Wnt signaling pathway_Homo sapiens_hsa043100.16241679
111Carbon metabolism_Homo sapiens_hsa012000.16004744
112Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.15418893
113Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.15124296
114Circadian rhythm_Homo sapiens_hsa047100.14578560
115Neurotrophin signaling pathway_Homo sapiens_hsa047220.13680152
116Ovarian steroidogenesis_Homo sapiens_hsa049130.13566675
117Regulation of autophagy_Homo sapiens_hsa041400.12864896
118Endocytosis_Homo sapiens_hsa041440.12525601

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