PACSIN1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.74030056
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.61860487
3locomotory exploration behavior (GO:0035641)6.06186918
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.99882549
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.91413782
6synaptic vesicle exocytosis (GO:0016079)5.83981503
7glutamate secretion (GO:0014047)5.60020218
8regulation of synaptic vesicle exocytosis (GO:2000300)5.47181622
9vocalization behavior (GO:0071625)5.43119540
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.31364607
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.15524964
12cerebellar granule cell differentiation (GO:0021707)5.09370140
13neuronal action potential propagation (GO:0019227)4.96869762
14regulation of synaptic vesicle transport (GO:1902803)4.87163571
15neurotransmitter secretion (GO:0007269)4.86874133
16regulation of glutamate receptor signaling pathway (GO:1900449)4.86740646
17amino acid import (GO:0043090)4.76771521
18protein localization to synapse (GO:0035418)4.71771172
19cellular potassium ion homeostasis (GO:0030007)4.69271812
20regulation of neuronal synaptic plasticity (GO:0048168)4.65020672
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.62696702
22exploration behavior (GO:0035640)4.54336365
23regulation of long-term neuronal synaptic plasticity (GO:0048169)4.52828166
24sodium ion export (GO:0071436)4.47122460
25regulation of synapse structural plasticity (GO:0051823)4.33630232
26gamma-aminobutyric acid transport (GO:0015812)4.24563572
27synaptic transmission, glutamatergic (GO:0035249)4.22192637
28layer formation in cerebral cortex (GO:0021819)4.20396099
29long-term memory (GO:0007616)4.12944850
30glutamate receptor signaling pathway (GO:0007215)4.11742420
31central nervous system myelination (GO:0022010)4.10842487
32axon ensheathment in central nervous system (GO:0032291)4.10842487
33negative regulation of dendrite morphogenesis (GO:0050774)4.08329691
34membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.07790429
35neurotransmitter-gated ion channel clustering (GO:0072578)4.03355147
36regulation of synapse maturation (GO:0090128)4.01753675
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.00687848
38neuron-neuron synaptic transmission (GO:0007270)4.00292448
39neuron cell-cell adhesion (GO:0007158)3.96501449
40neuromuscular process controlling posture (GO:0050884)3.95722966
41positive regulation of membrane potential (GO:0045838)3.95343199
42neurotransmitter transport (GO:0006836)3.94978812
43proline transport (GO:0015824)3.93644859
44dendritic spine morphogenesis (GO:0060997)3.90786371
45positive regulation of dendritic spine morphogenesis (GO:0061003)3.89211398
46cerebellar Purkinje cell differentiation (GO:0021702)3.85255062
47regulation of excitatory postsynaptic membrane potential (GO:0060079)3.83296711
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.78551895
49postsynaptic membrane organization (GO:0001941)3.75779691
50glycine transport (GO:0015816)3.72917968
51activation of protein kinase A activity (GO:0034199)3.72640590
52neuromuscular process controlling balance (GO:0050885)3.68914211
53regulation of neurotransmitter secretion (GO:0046928)3.66944541
54regulation of postsynaptic membrane potential (GO:0060078)3.64857787
55regulation of synaptic plasticity (GO:0048167)3.64413924
56regulation of neurotransmitter levels (GO:0001505)3.64369218
57positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.63915894
58positive regulation of synapse maturation (GO:0090129)3.63068991
59regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.62675333
60cytoskeletal anchoring at plasma membrane (GO:0007016)3.59395986
61regulation of dendritic spine development (GO:0060998)3.59211283
62prepulse inhibition (GO:0060134)3.51013405
63cell communication by electrical coupling (GO:0010644)3.49616103
64positive regulation of synaptic transmission, GABAergic (GO:0032230)3.49273723
65neurotransmitter uptake (GO:0001504)3.48665694
66acidic amino acid transport (GO:0015800)3.48464342
67transmission of nerve impulse (GO:0019226)3.47559579
68membrane depolarization during action potential (GO:0086010)3.46349352
69regulation of dendritic spine morphogenesis (GO:0061001)3.46003776
70dendritic spine organization (GO:0097061)3.45537044
71vesicle docking involved in exocytosis (GO:0006904)3.45152662
72regulation of neurotransmitter transport (GO:0051588)3.43851698
73positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.43081744
74positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.43054028
75regulation of vesicle fusion (GO:0031338)3.41424372
76long-term synaptic potentiation (GO:0060291)3.41403689
77gamma-aminobutyric acid signaling pathway (GO:0007214)3.41352201
78regulation of synaptic transmission, glutamatergic (GO:0051966)3.36599364
79positive regulation of neurotransmitter transport (GO:0051590)3.35098428
80membrane hyperpolarization (GO:0060081)3.31725373
81G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.31454777
82regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.29955871
83regulation of ARF protein signal transduction (GO:0032012)3.27511985
84auditory behavior (GO:0031223)3.26744693
85response to auditory stimulus (GO:0010996)3.26608500
86L-amino acid import (GO:0043092)3.26095553
87membrane depolarization (GO:0051899)3.25752667
88potassium ion import (GO:0010107)3.25706487
89potassium ion homeostasis (GO:0055075)3.23714823
90positive regulation of neurotransmitter secretion (GO:0001956)3.23339973
91negative regulation of synaptic transmission, GABAergic (GO:0032229)3.21002138
92regulation of exocytosis (GO:0017157)3.20792849
93regulation of voltage-gated calcium channel activity (GO:1901385)3.20193263
94cell differentiation in hindbrain (GO:0021533)3.19946866
95neuromuscular synaptic transmission (GO:0007274)3.17439664
96vesicle docking (GO:0048278)3.15376501
97mating behavior (GO:0007617)3.13274565
98innervation (GO:0060384)3.12500363
99vesicle transport along microtubule (GO:0047496)3.11947039
100cellular sodium ion homeostasis (GO:0006883)3.11734065
101neuronal ion channel clustering (GO:0045161)3.10629924
102dicarboxylic acid transport (GO:0006835)3.09209978
103positive regulation of synaptic transmission (GO:0050806)3.08428546
104signal release (GO:0023061)3.08129057
105regulation of synaptic transmission (GO:0050804)3.07219796
106neuromuscular process (GO:0050905)3.06987821
107L-glutamate transport (GO:0015813)3.06649722
108synaptic transmission (GO:0007268)3.06423250
109cell communication involved in cardiac conduction (GO:0086065)3.06360618
110* synaptic vesicle endocytosis (GO:0048488)3.04802893
111learning (GO:0007612)3.02223367
112adult walking behavior (GO:0007628)3.01925740
113dendrite morphogenesis (GO:0048813)3.01604638
114neuron recognition (GO:0008038)3.01075688
115chemosensory behavior (GO:0007635)2.99550555
116cerebellar Purkinje cell layer development (GO:0021680)2.99410515
117detection of calcium ion (GO:0005513)2.99253186
118positive regulation of dendritic spine development (GO:0060999)2.98698496
119G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.98556616
120regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.97070931
121negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.96940437
122intraspecies interaction between organisms (GO:0051703)2.96290812
123social behavior (GO:0035176)2.96290812
124negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.94561065

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.85684722
2* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10237481
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.08171797
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04973871
5GBX2_23144817_ChIP-Seq_PC3_Human2.99826766
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.95254851
7* RARB_27405468_Chip-Seq_BRAIN_Mouse2.94428921
8DROSHA_22980978_ChIP-Seq_HELA_Human2.83975731
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80139793
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80139793
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.72733180
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.63339080
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.61100305
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54415113
15IKZF1_21737484_ChIP-ChIP_HCT116_Human2.52584871
16REST_18959480_ChIP-ChIP_MESCs_Mouse2.47758023
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46903517
18* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.38548032
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.38349152
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.35327778
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.35024326
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.34727280
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.30035996
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.23319363
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.13555853
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.05705197
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.93364633
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.85885804
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.76851815
30AR_21572438_ChIP-Seq_LNCaP_Human1.76061430
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.67330574
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55196268
33* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.50574882
34SMAD4_21799915_ChIP-Seq_A2780_Human1.49598493
35DNAJC2_21179169_ChIP-ChIP_NT2_Human1.49166235
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.46602976
37LXR_22292898_ChIP-Seq_THP-1_Human1.37256257
38* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.35632340
39RING1B_27294783_Chip-Seq_ESCs_Mouse1.35557056
40KDM2B_26808549_Chip-Seq_K562_Human1.35253386
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.31104825
42SMAD_19615063_ChIP-ChIP_OVARY_Human1.28800637
43* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.27276851
44AR_19668381_ChIP-Seq_PC3_Human1.25607268
45ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.24501215
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.24223447
47TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22781916
48NR3C1_23031785_ChIP-Seq_PC12_Mouse1.22659033
49TAF15_26573619_Chip-Seq_HEK293_Human1.21150329
50* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21113620
51WT1_25993318_ChIP-Seq_PODOCYTE_Human1.20917466
52GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.19969095
53ZNF274_21170338_ChIP-Seq_K562_Hela1.18469112
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17070127
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.16988497
56* ESR2_21235772_ChIP-Seq_MCF-7_Human1.16765050
57ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.16056004
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.14943452
59STAT3_23295773_ChIP-Seq_U87_Human1.13515818
60SRY_22984422_ChIP-ChIP_TESTIS_Rat1.13434942
61PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.13348608
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12562481
63OCT4_19829295_ChIP-Seq_ESCs_Human1.11017135
64SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.10290054
65RING1B_27294783_Chip-Seq_NPCs_Mouse1.09718912
66SMC4_20622854_ChIP-Seq_HELA_Human1.09059029
67GATA1_26923725_Chip-Seq_HPCs_Mouse1.08661438
68WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08028961
69RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07328965
70* AR_25329375_ChIP-Seq_VCAP_Human1.06995929
71* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.06832303
72SMAD3_21741376_ChIP-Seq_EPCs_Human1.05184458
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04373250
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01282860
75P300_19829295_ChIP-Seq_ESCs_Human1.01281751
76DPY_21335234_ChIP-Seq_ESCs_Mouse1.00772363
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.99560567
78TET1_21490601_ChIP-Seq_MESCs_Mouse0.98610139
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98153255
80TCF4_23295773_ChIP-Seq_U87_Human0.98089472
81PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.97756262
82CTCF_27219007_Chip-Seq_Bcells_Human0.97135799
83YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95913153
84PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.95883638
85SMAD3_21741376_ChIP-Seq_ESCs_Human0.94664089
86CREB1_26743006_Chip-Seq_LNCaP_Human0.94518767
87* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94238729
88VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93088966
89ZNF217_24962896_ChIP-Seq_MCF-7_Human0.92974447
90KDM2B_26808549_Chip-Seq_DND41_Human0.92814883
91TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92598207
92* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92533696
93SMAD4_21741376_ChIP-Seq_HESCs_Human0.92498552
94ZFP57_27257070_Chip-Seq_ESCs_Mouse0.92076019
95THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.91947333
96* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.91126625
97GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91036370
98* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.90563959
99OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.88736116
100* SMAD3_21741376_ChIP-Seq_HESCs_Human0.88385097
101CBX2_27304074_Chip-Seq_ESCs_Mouse0.88329965
102ARNT_22903824_ChIP-Seq_MCF-7_Human0.87988294
103TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.87977008
104P68_20966046_ChIP-Seq_HELA_Human0.87677968
105BMI1_23680149_ChIP-Seq_NPCS_Mouse0.87671237
106AHR_22903824_ChIP-Seq_MCF-7_Human0.87353827
107CDX2_19796622_ChIP-Seq_MESCs_Mouse0.87283876
108EGR1_19032775_ChIP-ChIP_M12_Human0.87116197
109TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.86734969
110SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86125847
111CTNNB1_20460455_ChIP-Seq_HCT116_Human0.85606731
112RNF2_27304074_Chip-Seq_NSC_Mouse0.84855534
113SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84459075
114KDM2B_26808549_Chip-Seq_SUP-B15_Human0.84217606
115PIAS1_25552417_ChIP-Seq_VCAP_Human0.84112528
116PRDM14_20953172_ChIP-Seq_ESCs_Human0.84025321
117MYC_19915707_ChIP-ChIP_AK7_Human0.82841929
118SMAD4_21741376_ChIP-Seq_ESCs_Human0.82771698
119KLF4_19829295_ChIP-Seq_ESCs_Human0.82624259
120RUNX1_26923725_Chip-Seq_HPCs_Mouse0.81187634
121DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.81086188
122RUNX2_22187159_ChIP-Seq_PCA_Human0.78909043
123RXR_22108803_ChIP-Seq_LS180_Human0.78900086
124GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.78764733
125TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.78467062
126KDM2B_26808549_Chip-Seq_JURKAT_Human0.77542289
127UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.77107335
128TP53_20018659_ChIP-ChIP_R1E_Mouse0.72840408
129CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.71564603
130TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.71199382
131TET1_21451524_ChIP-Seq_MESCs_Mouse0.69622872
132* TP53_23651856_ChIP-Seq_MEFs_Mouse0.68699169
133SA1_27219007_Chip-Seq_Bcells_Human0.67794813
134MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.66067289

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.90824116
2MP0003880_abnormal_central_pattern4.65631212
3MP0003635_abnormal_synaptic_transmissio4.29371508
4MP0004270_analgesia3.74248810
5MP0009745_abnormal_behavioral_response3.47281526
6MP0009046_muscle_twitch3.41656159
7MP0002064_seizures3.32163226
8MP0002063_abnormal_learning/memory/cond3.31117519
9MP0001968_abnormal_touch/_nociception3.17291802
10MP0002822_catalepsy3.09362197
11MP0005423_abnormal_somatic_nervous3.06729438
12MP0002272_abnormal_nervous_system2.80358432
13MP0002572_abnormal_emotion/affect_behav2.75874956
14MP0002734_abnormal_mechanical_nocicepti2.74348870
15MP0001486_abnormal_startle_reflex2.64969780
16MP0002736_abnormal_nociception_after2.38092954
17MP0001501_abnormal_sleep_pattern2.37537629
18MP0008569_lethality_at_weaning2.24901289
19MP0002735_abnormal_chemical_nociception2.24724589
20MP0002733_abnormal_thermal_nociception2.07308297
21MP0001970_abnormal_pain_threshold2.05166295
22MP0002067_abnormal_sensory_capabilities2.02103828
23MP0001440_abnormal_grooming_behavior1.97088656
24MP0002909_abnormal_adrenal_gland1.90362411
25MP0003329_amyloid_beta_deposits1.86987402
26MP0009780_abnormal_chondrocyte_physiolo1.84451532
27MP0004858_abnormal_nervous_system1.83658369
28MP0004811_abnormal_neuron_physiology1.83265625
29MP0002184_abnormal_innervation1.77412868
30MP0002557_abnormal_social/conspecific_i1.68495425
31MP0004924_abnormal_behavior1.68386346
32MP0005386_behavior/neurological_phenoty1.68386346
33MP0003879_abnormal_hair_cell1.64588971
34MP0005646_abnormal_pituitary_gland1.61525317
35MP0000955_abnormal_spinal_cord1.57425163
36MP0004885_abnormal_endolymph1.55112477
37MP0003123_paternal_imprinting1.55043309
38MP0001984_abnormal_olfaction1.54174607
39MP0003633_abnormal_nervous_system1.47269519
40MP0003787_abnormal_imprinting1.45363366
41MP0002882_abnormal_neuron_morphology1.45222453
42MP0006276_abnormal_autonomic_nervous1.44868233
43MP0002066_abnormal_motor_capabilities/c1.44518586
44MP0000778_abnormal_nervous_system1.42984942
45MP0005551_abnormal_eye_electrophysiolog1.41354176
46MP0001502_abnormal_circadian_rhythm1.37687896
47MP0004142_abnormal_muscle_tone1.34463348
48MP0003631_nervous_system_phenotype1.21235978
49MP0008872_abnormal_physiological_respon1.17196705
50MP0002229_neurodegeneration1.16330815
51MP0005645_abnormal_hypothalamus_physiol1.15282469
52MP0001905_abnormal_dopamine_level1.14077296
53MP0004145_abnormal_muscle_electrophysio1.08857433
54MP0001529_abnormal_vocalization1.06312253
55MP0001346_abnormal_lacrimal_gland1.05427862
56MP0003075_altered_response_to1.04506604
57MP0002152_abnormal_brain_morphology1.03662830
58MP0003122_maternal_imprinting1.01570460
59MP0008961_abnormal_basal_metabolism0.99297196
60MP0008874_decreased_physiological_sensi0.98400581
61MP0002090_abnormal_vision0.98222323
62MP0004147_increased_porphyrin_level0.97458955
63MP0003690_abnormal_glial_cell0.97036056
64MP0000751_myopathy0.96305333
65MP0003283_abnormal_digestive_organ0.95233060
66MP0002069_abnormal_eating/drinking_beha0.93068622
67MP0000920_abnormal_myelination0.92090432
68MP0001348_abnormal_lacrimal_gland0.91768589
69MP0000569_abnormal_digit_pigmentation0.90265675
70MP0001177_atelectasis0.90132203
71MP0000013_abnormal_adipose_tissue0.90011577
72MP0003634_abnormal_glial_cell0.88909034
73MP0005535_abnormal_body_temperature0.87076946
74MP0003632_abnormal_nervous_system0.85467293
75MP0005499_abnormal_olfactory_system0.84031523
76MP0005394_taste/olfaction_phenotype0.84031523
77MP0004742_abnormal_vestibular_system0.83480691
78MP0000604_amyloidosis0.82385748
79MP0010386_abnormal_urinary_bladder0.80880750
80MP0006072_abnormal_retinal_apoptosis0.79797935
81MP0001986_abnormal_taste_sensitivity0.78164121
82MP0001188_hyperpigmentation0.77829692
83MP0004085_abnormal_heartbeat0.77355528
84MP0002752_abnormal_somatic_nervous0.77333460
85MP0004233_abnormal_muscle_weight0.76923885
86MP0005167_abnormal_blood-brain_barrier0.75520199
87MP0001963_abnormal_hearing_physiology0.74882815
88MP0004043_abnormal_pH_regulation0.68811604
89MP0004215_abnormal_myocardial_fiber0.67754498
90MP0003172_abnormal_lysosome_physiology0.67664732
91MP0008877_abnormal_DNA_methylation0.67354238
92MP0004510_myositis0.66491922
93MP0002638_abnormal_pupillary_reflex0.65632095
94MP0005253_abnormal_eye_physiology0.64776569
95MP0004130_abnormal_muscle_cell0.64137493
96MP0003137_abnormal_impulse_conducting0.63581998
97MP0000631_abnormal_neuroendocrine_gland0.62555898
98MP0005623_abnormal_meninges_morphology0.60796195
99MP0005166_decreased_susceptibility_to0.60727156
100MP0001485_abnormal_pinna_reflex0.60075202
101MP0000579_abnormal_nail_morphology0.58342335
102MP0010769_abnormal_survival0.54046734
103MP0001664_abnormal_digestion0.53677309
104MP0004484_altered_response_of0.53291811
105MP0010234_abnormal_vibrissa_follicle0.52929539
106MP0001943_abnormal_respiration0.52037016
107MP0001299_abnormal_eye_distance/0.51402034
108MP0003956_abnormal_body_size0.50928933
109MP0010768_mortality/aging0.50734809
110MP0010770_preweaning_lethality0.47533947
111MP0002082_postnatal_lethality0.47533947
112MP0002873_normal_phenotype0.46516532
113MP0003183_abnormal_peptide_metabolism0.45870067
114MP0003045_fibrosis0.45724083
115MP0002169_no_abnormal_phenotype0.44897009
116MP0001765_abnormal_ion_homeostasis0.44456964
117MP0005409_darkened_coat_color0.40543959
118MP0001731_abnormal_postnatal_growth0.40068491
119MP0002089_abnormal_postnatal_growth/wei0.39798505

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.72209679
2Focal motor seizures (HP:0011153)7.46280341
3Focal seizures (HP:0007359)5.84077379
4Visual hallucinations (HP:0002367)5.73578140
5Progressive cerebellar ataxia (HP:0002073)4.85421507
6Action tremor (HP:0002345)4.83033853
7Epileptic encephalopathy (HP:0200134)4.69602491
8Febrile seizures (HP:0002373)4.65188977
9Atonic seizures (HP:0010819)4.63335424
10Absence seizures (HP:0002121)4.25784163
11Generalized tonic-clonic seizures (HP:0002069)3.95120482
12Supranuclear gaze palsy (HP:0000605)3.88940177
13Ankle clonus (HP:0011448)3.84125636
14Dialeptic seizures (HP:0011146)3.83198860
15Cerebral hypomyelination (HP:0006808)3.71125691
16Gaze-evoked nystagmus (HP:0000640)3.64122385
17Depression (HP:0000716)3.58767715
18Dysdiadochokinesis (HP:0002075)3.57538343
19Impaired vibration sensation in the lower limbs (HP:0002166)3.47114572
20Dysmetria (HP:0001310)3.41706901
21Poor eye contact (HP:0000817)3.39229925
22Postural instability (HP:0002172)3.29202663
23Broad-based gait (HP:0002136)3.26679930
24Urinary bladder sphincter dysfunction (HP:0002839)3.23768786
25Anxiety (HP:0000739)3.19323203
26Abnormality of the lower motor neuron (HP:0002366)3.17645510
27Truncal ataxia (HP:0002078)3.16352186
28Impaired social interactions (HP:0000735)3.11562237
29Abnormal social behavior (HP:0012433)3.11562237
30Mutism (HP:0002300)3.07808168
31Ventricular fibrillation (HP:0001663)3.04759520
32Abnormal eating behavior (HP:0100738)3.03859397
33Impaired smooth pursuit (HP:0007772)3.00533487
34Hemiplegia (HP:0002301)2.99417222
35Papilledema (HP:0001085)2.97253528
36Genetic anticipation (HP:0003743)2.93957465
37Akinesia (HP:0002304)2.90628314
38Scanning speech (HP:0002168)2.87638806
39Intention tremor (HP:0002080)2.87025920
40Urinary urgency (HP:0000012)2.82764090
41Torticollis (HP:0000473)2.81571996
42Spastic gait (HP:0002064)2.79265254
43Dysmetric saccades (HP:0000641)2.75708123
44Apathy (HP:0000741)2.74296552
45Hemiparesis (HP:0001269)2.73013092
46Annular pancreas (HP:0001734)2.71649060
47Abnormality of ocular smooth pursuit (HP:0000617)2.68743995
48Amblyopia (HP:0000646)2.62288150
49Focal dystonia (HP:0004373)2.62129935
50Bradykinesia (HP:0002067)2.61590343
51Sleep apnea (HP:0010535)2.56281723
52Progressive inability to walk (HP:0002505)2.55281954
53Peripheral hypomyelination (HP:0007182)2.54962844
54Status epilepticus (HP:0002133)2.50221771
55Abnormality of binocular vision (HP:0011514)2.49519325
56Diplopia (HP:0000651)2.49519325
57Diminished motivation (HP:0000745)2.45840516
58Stereotypic behavior (HP:0000733)2.41496670
59Spastic tetraparesis (HP:0001285)2.39549843
60Choreoathetosis (HP:0001266)2.38119532
61Impaired vibratory sensation (HP:0002495)2.35669180
62Megalencephaly (HP:0001355)2.34957585
63Pointed chin (HP:0000307)2.31812279
64Craniofacial dystonia (HP:0012179)2.31576639
65Insomnia (HP:0100785)2.30468479
66Neurofibrillary tangles (HP:0002185)2.27140283
67Hyperventilation (HP:0002883)2.26821904
68CNS hypomyelination (HP:0003429)2.24435664
69Bundle branch block (HP:0011710)2.24088756
70Lower limb muscle weakness (HP:0007340)2.23233795
71Central scotoma (HP:0000603)2.22472847
72Epileptiform EEG discharges (HP:0011182)2.19775071
73Pheochromocytoma (HP:0002666)2.19564631
74Clonus (HP:0002169)2.19230497
75Drooling (HP:0002307)2.18715368
76Excessive salivation (HP:0003781)2.18715368
77EEG with generalized epileptiform discharges (HP:0011198)2.16229334
78Insidious onset (HP:0003587)2.13630094
79Termporal pattern (HP:0011008)2.13630094
80Cerebral inclusion bodies (HP:0100314)2.13136947
81Fetal akinesia sequence (HP:0001989)2.12200035
82Abnormality of saccadic eye movements (HP:0000570)2.08781883
83Generalized myoclonic seizures (HP:0002123)2.05588130
84Degeneration of the lateral corticospinal tracts (HP:0002314)2.05083520
85Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.05083520
86Gait ataxia (HP:0002066)2.05050120
87Tetraplegia (HP:0002445)2.03877725
88Hypsarrhythmia (HP:0002521)2.03163098
89Neuronal loss in central nervous system (HP:0002529)2.02564906
90Lower limb amyotrophy (HP:0007210)2.02258037
91Incomplete penetrance (HP:0003829)2.02015180
92Morphological abnormality of the pyramidal tract (HP:0002062)2.00731527
93Limb dystonia (HP:0002451)1.99371614
94Abnormality of the corticospinal tract (HP:0002492)1.97811590
95Abnormal EKG (HP:0003115)1.97668494
96Agitation (HP:0000713)1.97077231
97Rigidity (HP:0002063)1.96017662
98Increased circulating renin level (HP:0000848)1.94253460
99Memory impairment (HP:0002354)1.93953749
100Absent speech (HP:0001344)1.93222562
101Resting tremor (HP:0002322)1.90949430
102Congenital stationary night blindness (HP:0007642)1.89091647
103Delusions (HP:0000746)1.88366592
104Neuroendocrine neoplasm (HP:0100634)1.87943878
105Heart block (HP:0012722)1.83666431
106Abnormality of macular pigmentation (HP:0008002)1.83625315
107Rapidly progressive (HP:0003678)1.83428908
108Psychosis (HP:0000709)1.83403104
109Slow saccadic eye movements (HP:0000514)1.83303531
110Aplasia involving bones of the extremities (HP:0009825)1.82496414
111Aplasia involving bones of the upper limbs (HP:0009823)1.82496414
112Aplasia of the phalanges of the hand (HP:0009802)1.82496414
113Dementia (HP:0000726)1.82081341
114Postural tremor (HP:0002174)1.81872453
115Polyphagia (HP:0002591)1.81402569
116Split foot (HP:0001839)1.81318211
117Lower limb asymmetry (HP:0100559)1.81116101
118Inability to walk (HP:0002540)1.81103568
119Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.79070822
120Obstructive sleep apnea (HP:0002870)1.78725691
121Bronchomalacia (HP:0002780)1.78570386
122Spinal canal stenosis (HP:0003416)1.77540782
123Prolonged QT interval (HP:0001657)1.74846790
124Limb ataxia (HP:0002070)1.73434994
125Iris hypopigmentation (HP:0007730)1.73160887

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.52405111
2MAP3K94.24537301
3EPHA44.15895382
4MAP3K42.98052253
5MINK12.81697310
6DAPK22.70629854
7PRKD32.55571516
8KSR22.45175170
9MAP2K72.30971758
10MARK12.22945915
11CAMKK12.19511793
12NTRK22.04183928
13NTRK11.99698660
14RIPK41.93178515
15STK381.91610593
16MAP2K41.90211371
17MAP3K121.80817277
18CDK51.61077151
19ARAF1.58128775
20GRK51.56494065
21DAPK11.51395645
22MAP3K131.49445888
23PRPF4B1.44993186
24CDK191.39850804
25KSR11.39715983
26* PAK61.35942135
27CAMKK21.31634723
28FES1.30688016
29TAOK11.28301376
30SIK21.26655129
31MAP3K21.26578067
32TYRO31.26415590
33UHMK11.26013639
34TNIK1.24791786
35PINK11.22534719
36PRKCG1.22346149
37PLK21.18030191
38CAMK11.09877807
39PRKCH1.09160516
40PNCK1.07927612
41SGK4940.99899540
42SGK2230.99899540
43STK110.99471054
44LMTK20.98953803
45ALK0.98424597
46TNK20.98119741
47MAPK130.97130141
48CDK150.94745859
49CDK180.94313448
50PHKG20.91398543
51PHKG10.91398543
52LATS20.90524134
53MAPK120.90298553
54RET0.90280678
55CAMK2A0.89353725
56RIPK10.89139200
57CDK140.89138076
58RAF10.87296767
59CDK11A0.83318944
60PDK10.80021741
61CASK0.79427154
62SGK30.79067344
63NEK10.78072518
64WNK10.78045289
65SGK20.77777117
66MAP3K110.77594539
67MAP3K10.76123227
68LIMK10.71992248
69PAK30.71092531
70PDPK10.69070073
71DYRK1A0.68749200
72CAMK2B0.67512804
73SGK10.65913127
74MARK20.65879748
75OXSR10.64418785
76PTK2B0.63623346
77CDC42BPA0.63411987
78PKN10.61588938
79MAP3K70.58198665
80BMPR20.57741996
81BRSK10.57118580
82NEK60.56225032
83RPS6KA30.56205192
84TESK10.55478036
85CAMK40.54623960
86SCYL20.52693021
87MAPK100.51955737
88CAMK2G0.51390462
89CAMK1G0.49381807
90PRKCZ0.47651391
91CSNK1G20.47367873
92CAMK2D0.46012620
93FGFR20.45999253
94FYN0.45998176
95PRKG20.45148848
96DAPK30.43610327
97MAP2K10.37776223
98FER0.36605418
99PRKD20.35416745
100MAPKAPK50.35369448
101IRAK20.34318906
102ROCK20.34203336
103PRKCE0.33998937
104PRKCB0.33708215
105MAP2K60.33478755
106NME10.32840910
107PRKCA0.30651118
108ERBB20.30332682
109ROCK10.29318583
110CCNB10.28155972
111BRAF0.28117835
112DMPK0.28019213
113MAPK80.27696267
114JAK20.27187306
115TAOK20.26312432
116SRC0.23887500

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.54389686
2Synaptic vesicle cycle_Homo sapiens_hsa047213.53326620
3Olfactory transduction_Homo sapiens_hsa047402.83996030
4GABAergic synapse_Homo sapiens_hsa047272.78722814
5Circadian entrainment_Homo sapiens_hsa047132.68806613
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.61418695
7Glutamatergic synapse_Homo sapiens_hsa047242.58705980
8Long-term potentiation_Homo sapiens_hsa047202.58166446
9Morphine addiction_Homo sapiens_hsa050322.51051220
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.42548108
11Amphetamine addiction_Homo sapiens_hsa050312.34526110
12Salivary secretion_Homo sapiens_hsa049702.23012195
13Insulin secretion_Homo sapiens_hsa049112.12596631
14Dopaminergic synapse_Homo sapiens_hsa047282.10811545
15Gastric acid secretion_Homo sapiens_hsa049711.96302521
16Cholinergic synapse_Homo sapiens_hsa047251.92948381
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89975670
18Vitamin B6 metabolism_Homo sapiens_hsa007501.81492327
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.73058822
20Taste transduction_Homo sapiens_hsa047421.68368468
21Oxytocin signaling pathway_Homo sapiens_hsa049211.64959552
22Long-term depression_Homo sapiens_hsa047301.63017751
23Renin secretion_Homo sapiens_hsa049241.58587669
24Cocaine addiction_Homo sapiens_hsa050301.56683719
25Nitrogen metabolism_Homo sapiens_hsa009101.56242400
26Calcium signaling pathway_Homo sapiens_hsa040201.54086228
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.53333002
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.53144272
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.52070761
30Serotonergic synapse_Homo sapiens_hsa047261.51652293
31GnRH signaling pathway_Homo sapiens_hsa049121.48346526
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35749701
33Gap junction_Homo sapiens_hsa045401.30270949
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.28249048
35cAMP signaling pathway_Homo sapiens_hsa040241.27931718
36Type II diabetes mellitus_Homo sapiens_hsa049301.26773825
37Phototransduction_Homo sapiens_hsa047441.24982612
38Collecting duct acid secretion_Homo sapiens_hsa049661.24807900
39Estrogen signaling pathway_Homo sapiens_hsa049151.12122277
40Glioma_Homo sapiens_hsa052141.09773825
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.03057416
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.01271024
43Cardiac muscle contraction_Homo sapiens_hsa042600.97541043
44ErbB signaling pathway_Homo sapiens_hsa040120.96071957
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.95740712
46Melanogenesis_Homo sapiens_hsa049160.94700405
47Pancreatic secretion_Homo sapiens_hsa049720.92711098
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.90874116
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.90388784
50Oocyte meiosis_Homo sapiens_hsa041140.88403511
51Dorso-ventral axis formation_Homo sapiens_hsa043200.88252177
52Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86761846
53Thyroid hormone synthesis_Homo sapiens_hsa049180.84221623
54Axon guidance_Homo sapiens_hsa043600.78211087
55Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77954316
56Vibrio cholerae infection_Homo sapiens_hsa051100.73221569
57Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72706370
58Choline metabolism in cancer_Homo sapiens_hsa052310.72494060
59Dilated cardiomyopathy_Homo sapiens_hsa054140.71862524
60MAPK signaling pathway_Homo sapiens_hsa040100.70448380
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66155867
62VEGF signaling pathway_Homo sapiens_hsa043700.65483107
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.65387854
64Inositol phosphate metabolism_Homo sapiens_hsa005620.62360191
65mTOR signaling pathway_Homo sapiens_hsa041500.62047887
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61479993
67Bile secretion_Homo sapiens_hsa049760.61253229
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59571026
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.58845282
70Endocytosis_Homo sapiens_hsa041440.58537283
71Glucagon signaling pathway_Homo sapiens_hsa049220.56361379
72Circadian rhythm_Homo sapiens_hsa047100.53660106
73Rap1 signaling pathway_Homo sapiens_hsa040150.53027955
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.52354253
75Type I diabetes mellitus_Homo sapiens_hsa049400.52335291
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52013236
77Ras signaling pathway_Homo sapiens_hsa040140.52000587
78Alcoholism_Homo sapiens_hsa050340.46166673
79Arginine and proline metabolism_Homo sapiens_hsa003300.46051073
80Arginine biosynthesis_Homo sapiens_hsa002200.45650344
81Non-small cell lung cancer_Homo sapiens_hsa052230.44561212
82Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.44192300
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43979477
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43735013
85SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43351064
86Chemokine signaling pathway_Homo sapiens_hsa040620.40779616
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39721595
88Insulin signaling pathway_Homo sapiens_hsa049100.39415816
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39285228
90Endometrial cancer_Homo sapiens_hsa052130.38909775
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38285202
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37133024
93Prion diseases_Homo sapiens_hsa050200.36090531
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36053235
95Renal cell carcinoma_Homo sapiens_hsa052110.35366468
96Glycerophospholipid metabolism_Homo sapiens_hsa005640.32261435
97Histidine metabolism_Homo sapiens_hsa003400.32026820
98Mineral absorption_Homo sapiens_hsa049780.31668779
99Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31583372
100Fatty acid biosynthesis_Homo sapiens_hsa000610.31377593
101Ovarian steroidogenesis_Homo sapiens_hsa049130.30886834
102Wnt signaling pathway_Homo sapiens_hsa043100.30870841
103Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.30169854
104Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29801416
105HIF-1 signaling pathway_Homo sapiens_hsa040660.27263462
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.26931161
107African trypanosomiasis_Homo sapiens_hsa051430.26717361
108Alzheimers disease_Homo sapiens_hsa050100.22905867
109AMPK signaling pathway_Homo sapiens_hsa041520.22201905
110Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.20589264
111Tight junction_Homo sapiens_hsa045300.20472487
1122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.18228143
113Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.17983714
114beta-Alanine metabolism_Homo sapiens_hsa004100.17338385

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