ERC2

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 protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.84027363
2pyrimidine nucleobase catabolic process (GO:0006208)5.71509463
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.56154634
4vocalization behavior (GO:0071625)5.51893289
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.48382605
6neuron cell-cell adhesion (GO:0007158)5.40373875
7synaptic vesicle exocytosis (GO:0016079)5.29562379
8protein localization to synapse (GO:0035418)5.27373461
9ionotropic glutamate receptor signaling pathway (GO:0035235)5.15086660
10glutamate secretion (GO:0014047)5.10882096
11regulation of glutamate receptor signaling pathway (GO:1900449)5.07266998
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.03267096
13locomotory exploration behavior (GO:0035641)4.87520842
14glutamate receptor signaling pathway (GO:0007215)4.79815891
15synaptic vesicle maturation (GO:0016188)4.67328374
16synaptic transmission, glutamatergic (GO:0035249)4.62567708
17nucleobase catabolic process (GO:0046113)4.62304200
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.61615622
19synaptic vesicle docking involved in exocytosis (GO:0016081)4.59434022
20regulation of synaptic vesicle exocytosis (GO:2000300)4.53868262
21exploration behavior (GO:0035640)4.42375666
22neuron-neuron synaptic transmission (GO:0007270)4.40189820
23regulation of long-term neuronal synaptic plasticity (GO:0048169)4.33165839
24neuron recognition (GO:0008038)4.32857129
25neurotransmitter-gated ion channel clustering (GO:0072578)4.30432982
26regulation of neuronal synaptic plasticity (GO:0048168)4.24167820
27presynaptic membrane assembly (GO:0097105)4.22481823
28regulation of synaptic vesicle transport (GO:1902803)4.18862058
29neurofilament cytoskeleton organization (GO:0060052)4.10328903
30neuronal action potential propagation (GO:0019227)4.05738562
31dendritic spine morphogenesis (GO:0060997)4.04074189
32regulation of excitatory postsynaptic membrane potential (GO:0060079)4.03054954
33positive regulation of synapse maturation (GO:0090129)3.99785145
34axonal fasciculation (GO:0007413)3.96169307
35neurotransmitter secretion (GO:0007269)3.95560251
36postsynaptic membrane organization (GO:0001941)3.95525108
37layer formation in cerebral cortex (GO:0021819)3.95050052
38regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.92349230
39regulation of postsynaptic membrane potential (GO:0060078)3.90107071
40G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.89168091
41presynaptic membrane organization (GO:0097090)3.88511016
42regulation of synapse structural plasticity (GO:0051823)3.82138993
43long-term memory (GO:0007616)3.75972150
44positive regulation of membrane potential (GO:0045838)3.71145583
45gamma-aminobutyric acid signaling pathway (GO:0007214)3.70690035
46response to histamine (GO:0034776)3.65620622
47regulation of dendritic spine morphogenesis (GO:0061001)3.60469232
48central nervous system projection neuron axonogenesis (GO:0021952)3.59682894
49regulation of synaptic plasticity (GO:0048167)3.55155426
50regulation of synaptic transmission, glutamatergic (GO:0051966)3.54947099
51behavioral defense response (GO:0002209)3.53524558
52behavioral fear response (GO:0001662)3.53524558
53gamma-aminobutyric acid transport (GO:0015812)3.51665434
54proline transport (GO:0015824)3.51497887
55transmission of nerve impulse (GO:0019226)3.50092286
56positive regulation of neurotransmitter secretion (GO:0001956)3.49471029
57regulation of vesicle fusion (GO:0031338)3.48328355
58membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.47249556
59synaptic vesicle endocytosis (GO:0048488)3.46289912
60dendrite morphogenesis (GO:0048813)3.45717383
61negative regulation of synaptic transmission, GABAergic (GO:0032229)3.43339714
62behavioral response to nicotine (GO:0035095)3.38243718
63long-term synaptic potentiation (GO:0060291)3.37967384
64regulation of neurotransmitter secretion (GO:0046928)3.33436515
65fear response (GO:0042596)3.32469452
66positive regulation of synaptic transmission, GABAergic (GO:0032230)3.32267248
67regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.32085785
68startle response (GO:0001964)3.31264890
69negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.30760318
70regulation of glutamate secretion (GO:0014048)3.30752735
71membrane depolarization (GO:0051899)3.30580574
72neurotransmitter transport (GO:0006836)3.29797536
73innervation (GO:0060384)3.28026233
74central nervous system neuron axonogenesis (GO:0021955)3.25138673
75positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.24929999
76positive regulation of dendritic spine morphogenesis (GO:0061003)3.24332091
77regulation of synapse maturation (GO:0090128)3.23676525
78regulation of dendritic spine development (GO:0060998)3.22987660
79establishment of mitochondrion localization (GO:0051654)3.22219710
80negative regulation of dendrite development (GO:2000171)3.21745257
81positive regulation of dendritic spine development (GO:0060999)3.20681039
82G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.17538837
83positive regulation of neurotransmitter transport (GO:0051590)3.17112627
84serotonin metabolic process (GO:0042428)3.16510074
85behavioral response to cocaine (GO:0048148)3.16300802
86cell migration in hindbrain (GO:0021535)3.15293687
87membrane depolarization during action potential (GO:0086010)3.15173814
88synapse assembly (GO:0007416)3.14973879
89auditory behavior (GO:0031223)3.14600455
90learning (GO:0007612)3.14346294
91neuronal action potential (GO:0019228)3.11312428
92regulation of neurotransmitter levels (GO:0001505)3.09823909
93regulation of neurotransmitter transport (GO:0051588)3.09263621
94prepulse inhibition (GO:0060134)3.07726078
95dendritic spine organization (GO:0097061)3.06067914
96positive regulation of synapse assembly (GO:0051965)3.05709055
97synaptic transmission (GO:0007268)3.01699010
98membrane hyperpolarization (GO:0060081)3.00570829
99cerebellar Purkinje cell differentiation (GO:0021702)3.00364682
100activation of protein kinase A activity (GO:0034199)2.99126544
101positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.98374374
102regulation of synaptic transmission (GO:0050804)2.96022502
103intraspecies interaction between organisms (GO:0051703)2.95347672
104social behavior (GO:0035176)2.95347672
105regulation of respiratory system process (GO:0044065)2.94808701
106response to auditory stimulus (GO:0010996)2.94315517
107neuronal ion channel clustering (GO:0045161)2.90511142
108establishment of synaptic vesicle localization (GO:0097480)2.89280644
109synaptic vesicle transport (GO:0048489)2.89280644
110atrial cardiac muscle cell action potential (GO:0086014)2.88925534
111adult walking behavior (GO:0007628)2.88275343
112regulation of collateral sprouting (GO:0048670)2.84562423
113cochlea development (GO:0090102)2.84403477
114membrane assembly (GO:0071709)2.80473949
115synapse organization (GO:0050808)2.79095964
116mechanosensory behavior (GO:0007638)2.78330189
117response to amphetamine (GO:0001975)2.77851932
118retinal cone cell development (GO:0046549)2.76603153
119mitochondrion transport along microtubule (GO:0047497)2.74528262
120establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.74528262
121protein polyglutamylation (GO:0018095)2.73252770
122axon extension (GO:0048675)2.73041424
123positive regulation of potassium ion transmembrane transport (GO:1901381)2.72362226
124regulation of synapse assembly (GO:0051963)2.70377292
125regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.70200802
126adult behavior (GO:0030534)2.69627654
127axon ensheathment in central nervous system (GO:0032291)2.64058073
128central nervous system myelination (GO:0022010)2.64058073
129retinal ganglion cell axon guidance (GO:0031290)2.61948645

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.80232624
2* GBX2_23144817_ChIP-Seq_PC3_Human4.03549382
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.09099843
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04426519
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.95041531
6SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60682751
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.60303268
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.59895481
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.57637111
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.57637111
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.57273899
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47486757
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.40425176
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.35732416
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.34360227
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.29909139
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.29447799
18* RARB_27405468_Chip-Seq_BRAIN_Mouse2.22864870
19* DROSHA_22980978_ChIP-Seq_HELA_Human2.22243943
20ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.20849164
21HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.15305652
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.14675287
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.13269853
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.10985032
25CTBP2_25329375_ChIP-Seq_LNCAP_Human2.08736576
26REST_18959480_ChIP-ChIP_MESCs_Mouse2.06040851
27TAF15_26573619_Chip-Seq_HEK293_Human2.05844551
28CTBP1_25329375_ChIP-Seq_LNCAP_Human2.02081483
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.98762442
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.93736296
31AR_21572438_ChIP-Seq_LNCaP_Human1.87181846
32ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84687179
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.83319213
34IKZF1_21737484_ChIP-ChIP_HCT116_Human1.76351097
35* SMAD4_21799915_ChIP-Seq_A2780_Human1.74634163
36* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.67187888
37* P300_19829295_ChIP-Seq_ESCs_Human1.61814522
38ZNF274_21170338_ChIP-Seq_K562_Hela1.61073241
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.54371026
40MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.52548344
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51260200
42BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51000203
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.48255243
44SALL1_21062744_ChIP-ChIP_HESCs_Human1.47666100
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.43196491
46EWS_26573619_Chip-Seq_HEK293_Human1.41242323
47MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.40618521
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40218315
49POU3F2_20337985_ChIP-ChIP_501MEL_Human1.34711261
50AR_25329375_ChIP-Seq_VCAP_Human1.34426954
51EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.34330189
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.34286520
53RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34280820
54FUS_26573619_Chip-Seq_HEK293_Human1.33629161
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.33584633
56* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33356762
57* STAT3_23295773_ChIP-Seq_U87_Human1.33042387
58ERG_21242973_ChIP-ChIP_JURKAT_Human1.32181281
59IGF1R_20145208_ChIP-Seq_DFB_Human1.31480417
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29269931
61OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27238799
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.26607382
63RNF2_27304074_Chip-Seq_NSC_Mouse1.25942146
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25135924
65RING1B_27294783_Chip-Seq_ESCs_Mouse1.23509521
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.20820791
67* TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18077809
68* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17907116
69* AR_19668381_ChIP-Seq_PC3_Human1.17503756
70FLI1_27457419_Chip-Seq_LIVER_Mouse1.17490908
71TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16361611
72POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.16361611
73KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.16278872
74* TCF4_23295773_ChIP-Seq_U87_Human1.16252305
75VDR_22108803_ChIP-Seq_LS180_Human1.16225349
76AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15350700
77LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14824750
78MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14433648
79P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12381508
80ZNF217_24962896_ChIP-Seq_MCF-7_Human1.11684180
81CBP_20019798_ChIP-Seq_JUKART_Human1.11669136
82IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.11669136
83* ARNT_22903824_ChIP-Seq_MCF-7_Human1.11495013
84RING1B_27294783_Chip-Seq_NPCs_Mouse1.10326908
85NR3C1_21868756_ChIP-Seq_MCF10A_Human1.09440520
86PRDM14_20953172_ChIP-Seq_ESCs_Human1.09369447
87CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.09288823
88UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08317642
89YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07831752
90* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.07680711
91TP53_16413492_ChIP-PET_HCT116_Human1.07254226
92STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.06491824
93* RUNX2_22187159_ChIP-Seq_PCA_Human1.05969580
94TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.05743949
95TP53_18474530_ChIP-ChIP_U2OS_Human1.03976892
96* AHR_22903824_ChIP-Seq_MCF-7_Human1.03762030
97JUN_21703547_ChIP-Seq_K562_Human1.03484304
98CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03434171
99NANOG_18555785_Chip-Seq_ESCs_Mouse1.02894674
100* CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.02776937
101WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01986910
102* SOX9_26525672_Chip-Seq_HEART_Mouse1.01882328
103KDM2B_26808549_Chip-Seq_REH_Human1.01675385
104VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.00817024
105EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.00770101
106BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.00744430
107GATA1_26923725_Chip-Seq_HPCs_Mouse1.00489336
108* CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97720561
109MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97233169
110BCAT_22108803_ChIP-Seq_LS180_Human0.97163699
111TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96957478
112ER_23166858_ChIP-Seq_MCF-7_Human0.94600497
113SMAD3_21741376_ChIP-Seq_HESCs_Human0.92281828
114RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.90969892
115PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.89932262
116SMAD4_21741376_ChIP-Seq_HESCs_Human0.89409036
117* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88577122
118SMAD3_21741376_ChIP-Seq_ESCs_Human0.88192867

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.35418269
2MP0003880_abnormal_central_pattern5.34538003
3* MP0003635_abnormal_synaptic_transmissio4.06613133
4MP0004270_analgesia3.63688159
5MP0009745_abnormal_behavioral_response3.44867217
6MP0002063_abnormal_learning/memory/cond3.39707965
7MP0001968_abnormal_touch/_nociception3.19485072
8MP0002064_seizures3.02151850
9MP0002735_abnormal_chemical_nociception2.93318205
10MP0002572_abnormal_emotion/affect_behav2.90047146
11MP0005423_abnormal_somatic_nervous2.83320126
12MP0009046_muscle_twitch2.70133114
13MP0002822_catalepsy2.59818833
14MP0002736_abnormal_nociception_after2.56489840
15MP0002734_abnormal_mechanical_nocicepti2.55947066
16MP0001486_abnormal_startle_reflex2.40311456
17MP0002272_abnormal_nervous_system2.40030852
18MP0001501_abnormal_sleep_pattern2.29199837
19MP0001440_abnormal_grooming_behavior2.27496972
20MP0000778_abnormal_nervous_system2.19687745
21MP0002733_abnormal_thermal_nociception2.15344316
22MP0006276_abnormal_autonomic_nervous2.15197297
23MP0008877_abnormal_DNA_methylation2.07591139
24MP0002067_abnormal_sensory_capabilities2.01424438
25MP0001970_abnormal_pain_threshold1.96968795
26MP0002184_abnormal_innervation1.96238708
27MP0003890_abnormal_embryonic-extraembry1.93085280
28MP0002557_abnormal_social/conspecific_i1.81354595
29MP0005386_behavior/neurological_phenoty1.79953997
30MP0004924_abnormal_behavior1.79953997
31MP0001905_abnormal_dopamine_level1.76341388
32MP0001529_abnormal_vocalization1.73610506
33MP0003121_genomic_imprinting1.72883663
34MP0001188_hyperpigmentation1.67989943
35MP0009780_abnormal_chondrocyte_physiolo1.64588923
36MP0004811_abnormal_neuron_physiology1.64549233
37MP0003879_abnormal_hair_cell1.62309594
38MP0005646_abnormal_pituitary_gland1.60493931
39MP0003787_abnormal_imprinting1.58459747
40MP0004858_abnormal_nervous_system1.57586759
41MP0002909_abnormal_adrenal_gland1.54304689
42MP0008569_lethality_at_weaning1.51460479
43MP0003329_amyloid_beta_deposits1.51158684
44MP0000955_abnormal_spinal_cord1.50874774
45MP0001984_abnormal_olfaction1.46406384
46MP0002882_abnormal_neuron_morphology1.40839859
47MP0002066_abnormal_motor_capabilities/c1.37114555
48MP0010386_abnormal_urinary_bladder1.34410976
49MP0001502_abnormal_circadian_rhythm1.34254006
50MP0005645_abnormal_hypothalamus_physiol1.30519350
51MP0004133_heterotaxia1.26985986
52MP0003122_maternal_imprinting1.24676075
53MP0003136_yellow_coat_color1.19955701
54MP0004142_abnormal_muscle_tone1.18848974
55MP0000569_abnormal_digit_pigmentation1.18792105
56MP0002152_abnormal_brain_morphology1.13473459
57MP0004885_abnormal_endolymph1.13251808
58MP0003633_abnormal_nervous_system1.10027242
59MP0003119_abnormal_digestive_system1.07519419
60MP0003631_nervous_system_phenotype0.98683049
61MP0000566_synostosis0.96379549
62MP0005409_darkened_coat_color0.96330621
63MP0002876_abnormal_thyroid_physiology0.95769280
64MP0002069_abnormal_eating/drinking_beha0.95112368
65MP0000631_abnormal_neuroendocrine_gland0.93129737
66MP0004742_abnormal_vestibular_system0.92549738
67MP0002837_dystrophic_cardiac_calcinosis0.91955311
68MP0005551_abnormal_eye_electrophysiolog0.90518357
69MP0005253_abnormal_eye_physiology0.90328666
70MP0008872_abnormal_physiological_respon0.89073372
71MP0008789_abnormal_olfactory_epithelium0.86637259
72MP0002229_neurodegeneration0.86263384
73MP0006072_abnormal_retinal_apoptosis0.85696290
74MP0004145_abnormal_muscle_electrophysio0.85568304
75MP0006292_abnormal_olfactory_placode0.84960234
76MP0001986_abnormal_taste_sensitivity0.84607642
77MP0005535_abnormal_body_temperature0.84495424
78MP0001963_abnormal_hearing_physiology0.83752043
79MP0002653_abnormal_ependyma_morphology0.82637155
80MP0004085_abnormal_heartbeat0.82432327
81MP0000751_myopathy0.82367723
82MP0005195_abnormal_posterior_eye0.81622905
83MP0002752_abnormal_somatic_nervous0.80201871
84MP0000372_irregular_coat_pigmentation0.79430161
85MP0003938_abnormal_ear_development0.78912234
86MP0005394_taste/olfaction_phenotype0.77558061
87MP0005499_abnormal_olfactory_system0.77558061
88MP0001299_abnormal_eye_distance/0.77232839
89MP0002938_white_spotting0.76924089
90MP0003123_paternal_imprinting0.76124419
91MP0001177_atelectasis0.75610927
92MP0005171_absent_coat_pigmentation0.75234497
93MP0008874_decreased_physiological_sensi0.74596011
94MP0003937_abnormal_limbs/digits/tail_de0.74472038
95MP0001664_abnormal_digestion0.73944660
96MP0008961_abnormal_basal_metabolism0.73249321
97MP0002102_abnormal_ear_morphology0.72458176
98MP0003632_abnormal_nervous_system0.71490916
99MP0010234_abnormal_vibrissa_follicle0.70432347
100MP0003861_abnormal_nervous_system0.68680296
101MP0000049_abnormal_middle_ear0.67254010
102MP0001324_abnormal_eye_pigmentation0.66276647
103MP0002638_abnormal_pupillary_reflex0.66193713
104MP0003698_abnormal_male_reproductive0.65586854
105MP0003283_abnormal_digestive_organ0.64531804
106MP0002095_abnormal_skin_pigmentation0.64341903
107MP0002233_abnormal_nose_morphology0.64166944
108MP0001485_abnormal_pinna_reflex0.63079744
109MP0000026_abnormal_inner_ear0.62316443
110MP0003634_abnormal_glial_cell0.61285258
111MP0005187_abnormal_penis_morphology0.60524517
112MP0002234_abnormal_pharynx_morphology0.60206206
113MP0002751_abnormal_autonomic_nervous0.59404535
114MP0003137_abnormal_impulse_conducting0.55332053
115MP0000604_amyloidosis0.53854548
116MP0004215_abnormal_myocardial_fiber0.53247734
117MP0010769_abnormal_survival0.53149795
118MP0010770_preweaning_lethality0.53121097
119MP0002082_postnatal_lethality0.53121097
120MP0001943_abnormal_respiration0.52067775
121MP0004484_altered_response_of0.51256501
122MP0002090_abnormal_vision0.51193495
123MP0010768_mortality/aging0.50369419
124MP0000013_abnormal_adipose_tissue0.49999987

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.94279061
2Myokymia (HP:0002411)6.09640153
3Focal seizures (HP:0007359)5.86495617
4Epileptic encephalopathy (HP:0200134)5.23383077
5Visual hallucinations (HP:0002367)5.06118347
6Atonic seizures (HP:0010819)4.68084549
7Febrile seizures (HP:0002373)4.51883739
8Progressive cerebellar ataxia (HP:0002073)4.27520026
9Absence seizures (HP:0002121)4.20005608
10Hyperventilation (HP:0002883)4.18121965
11Dialeptic seizures (HP:0011146)4.04196288
12Broad-based gait (HP:0002136)3.92086844
13Generalized tonic-clonic seizures (HP:0002069)3.87949912
14Amblyopia (HP:0000646)3.58843488
15Limb dystonia (HP:0002451)3.55489659
16Excessive salivation (HP:0003781)3.31822197
17Drooling (HP:0002307)3.31822197
18Gaze-evoked nystagmus (HP:0000640)3.28826103
19Poor eye contact (HP:0000817)3.28402460
20Action tremor (HP:0002345)2.99774243
21Supranuclear gaze palsy (HP:0000605)2.99536949
22Impaired vibration sensation in the lower limbs (HP:0002166)2.97186820
23Protruding tongue (HP:0010808)2.94994707
24Truncal ataxia (HP:0002078)2.94341154
25Epileptiform EEG discharges (HP:0011182)2.89939233
26Dysdiadochokinesis (HP:0002075)2.87597391
27Abnormality of the labia minora (HP:0012880)2.85254292
28Abnormal eating behavior (HP:0100738)2.83283063
29Impaired social interactions (HP:0000735)2.80840166
30Abnormal social behavior (HP:0012433)2.80840166
31Mutism (HP:0002300)2.79419077
32Dysmetria (HP:0001310)2.79151487
33Ankle clonus (HP:0011448)2.73200903
34Absent speech (HP:0001344)2.71124772
35Genetic anticipation (HP:0003743)2.68723945
36Lissencephaly (HP:0001339)2.68297027
37Urinary bladder sphincter dysfunction (HP:0002839)2.65422213
38EEG with generalized epileptiform discharges (HP:0011198)2.62153430
39Anxiety (HP:0000739)2.61356379
40Cerebral inclusion bodies (HP:0100314)2.60631839
41Depression (HP:0000716)2.59958403
42Abnormality of the lower motor neuron (HP:0002366)2.56714207
43Stereotypic behavior (HP:0000733)2.54562459
44Polyphagia (HP:0002591)2.54463178
45Progressive inability to walk (HP:0002505)2.51200365
46Inability to walk (HP:0002540)2.49593074
47Impaired smooth pursuit (HP:0007772)2.48405565
48Hemiparesis (HP:0001269)2.47498988
49Termporal pattern (HP:0011008)2.45096309
50Insidious onset (HP:0003587)2.45096309
51Fetal akinesia sequence (HP:0001989)2.43031484
52Hypsarrhythmia (HP:0002521)2.41416022
53Urinary urgency (HP:0000012)2.39818226
54Torticollis (HP:0000473)2.37725459
55Postural instability (HP:0002172)2.36405806
56Scanning speech (HP:0002168)2.36248374
57Molar tooth sign on MRI (HP:0002419)2.35762843
58Abnormality of midbrain morphology (HP:0002418)2.35762843
59Pachygyria (HP:0001302)2.33919190
60Medial flaring of the eyebrow (HP:0010747)2.32357113
61Spastic gait (HP:0002064)2.30633258
62Papilledema (HP:0001085)2.29279435
63Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.29217654
64Degeneration of the lateral corticospinal tracts (HP:0002314)2.29217654
65Abnormality of the corticospinal tract (HP:0002492)2.28177767
66Bradykinesia (HP:0002067)2.26366043
67Abnormality of binocular vision (HP:0011514)2.25815201
68Diplopia (HP:0000651)2.25815201
69Blue irides (HP:0000635)2.22961589
70Neurofibrillary tangles (HP:0002185)2.22055919
71Congenital primary aphakia (HP:0007707)2.21109238
72Genital tract atresia (HP:0001827)2.20811228
73Abnormality of salivation (HP:0100755)2.20627123
74Pancreatic fibrosis (HP:0100732)2.18655604
75Focal dystonia (HP:0004373)2.16153491
76Exotropia (HP:0000577)2.15910072
77Decreased circulating renin level (HP:0003351)2.15531276
78Gait imbalance (HP:0002141)2.15122895
79Abnormality of ocular smooth pursuit (HP:0000617)2.14584728
80Vaginal atresia (HP:0000148)2.14058472
81Nephronophthisis (HP:0000090)2.13511166
82Spastic tetraplegia (HP:0002510)2.12960838
83Oligodactyly (hands) (HP:0001180)2.12671287
84Morphological abnormality of the pyramidal tract (HP:0002062)2.12174077
85Optic nerve hypoplasia (HP:0000609)2.11150082
86Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.10605102
87Amyotrophic lateral sclerosis (HP:0007354)2.10447069
88Megalencephaly (HP:0001355)2.10196788
89Agitation (HP:0000713)2.07841907
90Generalized myoclonic seizures (HP:0002123)2.04046718
91Inappropriate behavior (HP:0000719)2.03681047
92Pheochromocytoma (HP:0002666)2.03451347
93Increased circulating renin level (HP:0000848)2.02882349
94Type II lissencephaly (HP:0007260)2.00748500
95Retinal dysplasia (HP:0007973)2.00437089
96Nephrogenic diabetes insipidus (HP:0009806)2.00316723
97Gastroesophageal reflux (HP:0002020)1.98788009
98Status epilepticus (HP:0002133)1.97394403
99Impaired vibratory sensation (HP:0002495)1.97002175
100Obstructive sleep apnea (HP:0002870)1.96683582
101Intestinal atresia (HP:0011100)1.95189647
102Failure to thrive in infancy (HP:0001531)1.94732932
103Thickened helices (HP:0000391)1.94353494
104Hepatoblastoma (HP:0002884)1.93783005
105Generalized hypopigmentation of hair (HP:0011358)1.93675384
106Craniofacial dystonia (HP:0012179)1.92919698
107Incomplete penetrance (HP:0003829)1.92837789
108True hermaphroditism (HP:0010459)1.91630946
109Congenital stationary night blindness (HP:0007642)1.91557592
110Lower limb muscle weakness (HP:0007340)1.89867416
111Aplasia/Hypoplasia of the brainstem (HP:0007362)1.86336443
112Hypoplasia of the brainstem (HP:0002365)1.86336443
113Ulnar claw (HP:0001178)1.85580572
114Gait ataxia (HP:0002066)1.85474684
115Pancreatic cysts (HP:0001737)1.85258858
116Fair hair (HP:0002286)1.85098307
117Specific learning disability (HP:0001328)1.84983466
118Akinesia (HP:0002304)1.84029234
119Sleep apnea (HP:0010535)1.81752579
120Esotropia (HP:0000565)1.81558035
121Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.81198297
122Lower limb amyotrophy (HP:0007210)1.80890457
123Absent/shortened dynein arms (HP:0200106)1.80557453
124Dynein arm defect of respiratory motile cilia (HP:0012255)1.80557453
125Intellectual disability, severe (HP:0010864)1.77994613
126Autism (HP:0000717)1.76509945
127Hyperthyroidism (HP:0000836)1.75830152
128Cortical dysplasia (HP:0002539)1.75458550
129Poor suck (HP:0002033)1.74646719
130Dysmetric saccades (HP:0000641)1.74424512
131Volvulus (HP:0002580)1.72631323
132Muscular hypotonia of the trunk (HP:0008936)1.71093777
133Poor coordination (HP:0002370)1.70552791
134Abnormality of the renal medulla (HP:0100957)1.69074094
135Shawl scrotum (HP:0000049)1.67860834
136Postaxial hand polydactyly (HP:0001162)1.66120384
137Chronic hepatic failure (HP:0100626)1.65268269
138Hypoplasia of the corpus callosum (HP:0002079)1.64829104
139Septo-optic dysplasia (HP:0100842)1.64654119
140Narrow forehead (HP:0000341)1.62826033
141Hyperglycinemia (HP:0002154)1.59924080

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.19044103
2EPHA44.49235392
3MARK13.88708393
4MAP3K93.46541439
5MAP3K43.14947178
6MAP2K72.91725380
7TNIK2.75209817
8CASK2.63405625
9MINK12.41375357
10DAPK22.40333942
11NTRK22.13254072
12MAP2K41.92757830
13MAP3K121.89766296
14MAPK131.89274970
15FRK1.88395992
16KSR11.83683972
17PNCK1.80887659
18BMPR1B1.77238014
19DAPK11.73735375
20PLK21.72808772
21PAK61.71903032
22KSR21.64958816
23RIPK41.53802966
24SIK21.52761637
25PRPF4B1.52368601
26CDK51.43795569
27TRIM281.32354920
28NTRK11.31687279
29GRK51.30291253
30PRKD31.22014182
31MAP4K21.21027334
32ARAF1.19240785
33CAMK2A1.17423828
34ACVR1B1.16346047
35PRKCG1.14971107
36CAMKK11.11738895
37FES1.10820959
38CDK191.10790106
39CSNK1G21.07878356
40CAMK2B1.05438540
41MARK21.00745323
42LATS21.00598063
43CSNK1G10.98248463
44STK380.96512376
45MAP3K130.95113423
46UHMK10.93998162
47PTK2B0.93491201
48PHKG20.89317486
49PHKG10.89317486
50SGK20.88054418
51CDK180.87295205
52SGK2230.87077685
53SGK4940.87077685
54GRK10.86894452
55MAP3K20.83627238
56CDK150.83016876
57CSNK1A1L0.81349069
58CAMK10.80221695
59DYRK1A0.80153145
60CAMKK20.80135773
61CDK140.79899330
62ADRBK20.78981343
63CCNB10.78963591
64BMPR20.76131399
65MKNK20.74911476
66SGK10.73481059
67RAF10.73061239
68NME10.72270933
69FGR0.72202661
70CDK11A0.71957223
71OXSR10.69553984
72AKT30.69276641
73TYRO30.68668967
74PAK30.67266176
75SIK30.66935341
76WNK30.65804429
77MAP3K60.64745482
78RET0.63350631
79STK110.62836287
80CSNK1D0.56143340
81PRKCE0.55424655
82SGK30.54560562
83CAMK2D0.53161005
84TAOK10.52248015
85BRAF0.51375658
86DYRK20.49999915
87BCR0.49753165
88CAMK1G0.49671801
89STK390.48902529
90PRKG10.48205437
91PRKCZ0.48046291
92WNK40.47089181
93ERBB30.46585760
94FER0.46324911
95INSRR0.45936192
96FGFR20.43174050
97CSNK1A10.43079246
98PRKCH0.42481527
99YES10.42471723
100CDK30.42193895
101MAPK120.40165080
102RPS6KA30.39308204
103CAMK2G0.38384369
104MAPK150.38184034
105MAP2K10.37957674
106PRKACB0.37894690
107CAMK40.37637468
108PLK30.35689457
109FYN0.35172983
110CSNK1G30.34827637
111CDC42BPA0.34725156
112MAP3K10.33352860
113MUSK0.32616930
114PDK10.32607403
115EPHB20.32383733
116PINK10.32151536
117GSK3B0.32056284
118PRKCB0.31579856
119MAPK100.30817825
120PKN10.30655068
121PDPK10.30547696
122RPS6KA20.29541607
123PRKACA0.29513157
124ADRBK10.29094114
125CSNK1E0.28804692
126STK38L0.28517542
127WEE10.27911396
128PIK3CA0.26614284
129TAF10.26561085
130TLK10.25940350

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.29002517
2Synaptic vesicle cycle_Homo sapiens_hsa047213.22980511
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.96669603
4Circadian entrainment_Homo sapiens_hsa047132.88440665
5Long-term potentiation_Homo sapiens_hsa047202.85209426
6Amphetamine addiction_Homo sapiens_hsa050312.77323712
7Glutamatergic synapse_Homo sapiens_hsa047242.75384956
8GABAergic synapse_Homo sapiens_hsa047272.69914092
9Morphine addiction_Homo sapiens_hsa050322.59520043
10Olfactory transduction_Homo sapiens_hsa047402.49564552
11Dopaminergic synapse_Homo sapiens_hsa047282.40139039
12Taste transduction_Homo sapiens_hsa047422.09245888
13Salivary secretion_Homo sapiens_hsa049702.07584683
14Serotonergic synapse_Homo sapiens_hsa047262.02469999
15Insulin secretion_Homo sapiens_hsa049112.00899884
16Cocaine addiction_Homo sapiens_hsa050302.00492259
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.97806501
18Cholinergic synapse_Homo sapiens_hsa047251.94432078
19Long-term depression_Homo sapiens_hsa047301.84649603
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.80872612
21Renin secretion_Homo sapiens_hsa049241.77230899
22Calcium signaling pathway_Homo sapiens_hsa040201.71145175
23Oxytocin signaling pathway_Homo sapiens_hsa049211.70145217
24Gastric acid secretion_Homo sapiens_hsa049711.63138160
25Collecting duct acid secretion_Homo sapiens_hsa049661.58029554
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.52984263
27GnRH signaling pathway_Homo sapiens_hsa049121.43589565
28Axon guidance_Homo sapiens_hsa043601.43480069
29Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.36836156
30Gap junction_Homo sapiens_hsa045401.35477283
31cAMP signaling pathway_Homo sapiens_hsa040241.27271860
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.26627858
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24378667
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.24214648
35Type II diabetes mellitus_Homo sapiens_hsa049301.18784031
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.18480173
37Estrogen signaling pathway_Homo sapiens_hsa049151.10598925
38Steroid biosynthesis_Homo sapiens_hsa001001.08208762
39ErbB signaling pathway_Homo sapiens_hsa040121.07051532
40Melanogenesis_Homo sapiens_hsa049161.02825471
41Glioma_Homo sapiens_hsa052141.01298775
42cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99935286
43Phosphatidylinositol signaling system_Homo sapiens_hsa040700.99754061
44Vibrio cholerae infection_Homo sapiens_hsa051100.98738575
45Cardiac muscle contraction_Homo sapiens_hsa042600.98425437
46Phototransduction_Homo sapiens_hsa047440.96312501
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.94040582
48Butanoate metabolism_Homo sapiens_hsa006500.92150237
49Linoleic acid metabolism_Homo sapiens_hsa005910.91739269
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.91078925
51Ether lipid metabolism_Homo sapiens_hsa005650.86418626
52Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.84246520
53Oocyte meiosis_Homo sapiens_hsa041140.82001443
54alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.80353544
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78834912
56Choline metabolism in cancer_Homo sapiens_hsa052310.77455565
57Pancreatic secretion_Homo sapiens_hsa049720.76433215
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.76308156
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.76040341
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73555414
61Dorso-ventral axis formation_Homo sapiens_hsa043200.72951157
62Protein export_Homo sapiens_hsa030600.72216885
63MAPK signaling pathway_Homo sapiens_hsa040100.72023018
64Hippo signaling pathway_Homo sapiens_hsa043900.70885638
65Circadian rhythm_Homo sapiens_hsa047100.69588488
66Dilated cardiomyopathy_Homo sapiens_hsa054140.67080347
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67033344
68Basal transcription factors_Homo sapiens_hsa030220.64954675
69Huntingtons disease_Homo sapiens_hsa050160.63807507
70Thyroid hormone synthesis_Homo sapiens_hsa049180.63050219
71VEGF signaling pathway_Homo sapiens_hsa043700.62245000
72Ras signaling pathway_Homo sapiens_hsa040140.61799792
73Alzheimers disease_Homo sapiens_hsa050100.61793979
74Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60702385
75Hedgehog signaling pathway_Homo sapiens_hsa043400.59935734
76Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.59660249
77Alcoholism_Homo sapiens_hsa050340.56967990
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.56527628
79Glucagon signaling pathway_Homo sapiens_hsa049220.55198289
80Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.54631508
81Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.54582974
82Fatty acid biosynthesis_Homo sapiens_hsa000610.54474914
83Wnt signaling pathway_Homo sapiens_hsa043100.53557643
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53303972
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.52922450
86Rap1 signaling pathway_Homo sapiens_hsa040150.51025066
87Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.50771128
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.50138505
89Tight junction_Homo sapiens_hsa045300.48518789
90Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.48324347
91Regulation of autophagy_Homo sapiens_hsa041400.47154109
92Maturity onset diabetes of the young_Homo sapiens_hsa049500.46699116
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.43442540
94Basal cell carcinoma_Homo sapiens_hsa052170.43332305
95Selenocompound metabolism_Homo sapiens_hsa004500.42995347
96Sphingolipid signaling pathway_Homo sapiens_hsa040710.42696572
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42193510
98Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.42070375
99Oxidative phosphorylation_Homo sapiens_hsa001900.40796772
100Endometrial cancer_Homo sapiens_hsa052130.40760940
101Inositol phosphate metabolism_Homo sapiens_hsa005620.40095518
102Prion diseases_Homo sapiens_hsa050200.39952405
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39614798
104African trypanosomiasis_Homo sapiens_hsa051430.39106814
105Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.38600144
106Ovarian steroidogenesis_Homo sapiens_hsa049130.35906352
107Renal cell carcinoma_Homo sapiens_hsa052110.35415719
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.35349565
109Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34254383
110beta-Alanine metabolism_Homo sapiens_hsa004100.32765828
111Insulin signaling pathway_Homo sapiens_hsa049100.32263558
112mTOR signaling pathway_Homo sapiens_hsa041500.31713888
113Bile secretion_Homo sapiens_hsa049760.31183777
114Type I diabetes mellitus_Homo sapiens_hsa049400.30886400
115Nitrogen metabolism_Homo sapiens_hsa009100.30606222
116Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30573805
117Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29568540
118Endocytosis_Homo sapiens_hsa041440.29002558
119Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.28943278
120Fatty acid elongation_Homo sapiens_hsa000620.28853182
121Parkinsons disease_Homo sapiens_hsa050120.27764169
122Colorectal cancer_Homo sapiens_hsa052100.27704477
123Non-small cell lung cancer_Homo sapiens_hsa052230.24482035
124SNARE interactions in vesicular transport_Homo sapiens_hsa041300.21989735
125Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.20494224
126Glycerophospholipid metabolism_Homo sapiens_hsa005640.19068072

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