SEZ6L2

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 seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.71952424
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.33026858
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.31986426
4locomotory exploration behavior (GO:0035641)4.88840880
5regulation of synaptic vesicle exocytosis (GO:2000300)4.69328302
6synaptic vesicle exocytosis (GO:0016079)4.68381161
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.56560045
8axon ensheathment in central nervous system (GO:0032291)4.47864769
9central nervous system myelination (GO:0022010)4.47864769
10glutamate secretion (GO:0014047)4.39657669
11vocalization behavior (GO:0071625)4.37202474
12positive regulation of synapse maturation (GO:0090129)4.36738819
13neuronal action potential propagation (GO:0019227)4.32448911
14cerebellar granule cell differentiation (GO:0021707)4.31381787
15regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.26425309
16regulation of synaptic vesicle transport (GO:1902803)4.11271445
17neuron cell-cell adhesion (GO:0007158)4.03740896
18glycine transport (GO:0015816)3.99224501
19regulation of neuronal synaptic plasticity (GO:0048168)3.98253507
20ionotropic glutamate receptor signaling pathway (GO:0035235)3.97552944
21neurotransmitter secretion (GO:0007269)3.95418794
22regulation of glutamate receptor signaling pathway (GO:1900449)3.94352745
23synaptic vesicle docking involved in exocytosis (GO:0016081)3.83491758
24protein localization to synapse (GO:0035418)3.83008729
25gamma-aminobutyric acid transport (GO:0015812)3.77072909
26regulation of long-term neuronal synaptic plasticity (GO:0048169)3.69585124
27dendritic spine morphogenesis (GO:0060997)3.69539164
28cellular potassium ion homeostasis (GO:0030007)3.69044595
29positive regulation of dendritic spine morphogenesis (GO:0061003)3.68465503
30layer formation in cerebral cortex (GO:0021819)3.68329133
31exploration behavior (GO:0035640)3.68231810
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.59523335
33neuromuscular process controlling posture (GO:0050884)3.59264428
34synaptic transmission, glutamatergic (GO:0035249)3.57459875
35cell migration in hindbrain (GO:0021535)3.54757353
36regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.54231882
37glutamate receptor signaling pathway (GO:0007215)3.45882536
38neuron-neuron synaptic transmission (GO:0007270)3.42525847
39neurotransmitter transport (GO:0006836)3.41375798
40sodium ion export (GO:0071436)3.40954828
41neuron recognition (GO:0008038)3.39717525
42long-term memory (GO:0007616)3.39172456
43positive regulation of dendritic spine development (GO:0060999)3.38625862
44positive regulation of neurotransmitter transport (GO:0051590)3.36853959
45regulation of synapse maturation (GO:0090128)3.33715471
46activation of protein kinase A activity (GO:0034199)3.33131477
47transmission of nerve impulse (GO:0019226)3.32839322
48regulation of synapse structural plasticity (GO:0051823)3.32191940
49positive regulation of synaptic transmission, GABAergic (GO:0032230)3.26133283
50neuronal ion channel clustering (GO:0045161)3.24947672
51adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.22857018
52L-amino acid import (GO:0043092)3.22672429
53establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.19496853
54mitochondrion transport along microtubule (GO:0047497)3.19496853
55positive regulation of membrane potential (GO:0045838)3.18801220
56potassium ion import (GO:0010107)3.18107052
57regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.17429055
58adult walking behavior (GO:0007628)3.16574277
59cerebellar Purkinje cell differentiation (GO:0021702)3.16543135
60cellular sodium ion homeostasis (GO:0006883)3.15795959
61positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.14401326
62neuromuscular process controlling balance (GO:0050885)3.12789415
63regulation of excitatory postsynaptic membrane potential (GO:0060079)3.12535527
64gamma-aminobutyric acid signaling pathway (GO:0007214)3.11841559
65proline transport (GO:0015824)3.09550992
66neurotransmitter-gated ion channel clustering (GO:0072578)3.09375822
67regulation of neurotransmitter levels (GO:0001505)3.08885653
68presynaptic membrane organization (GO:0097090)3.07906957
69dendrite morphogenesis (GO:0048813)3.06195302
70negative regulation of synaptic transmission, GABAergic (GO:0032229)3.05822055
71regulation of synaptic plasticity (GO:0048167)3.04621839
72axonal fasciculation (GO:0007413)3.04348972
73regulation of neurotransmitter secretion (GO:0046928)3.03811142
74negative regulation of neurotransmitter transport (GO:0051589)3.03553802
75neurofilament cytoskeleton organization (GO:0060052)3.03435806
76regulation of vesicle fusion (GO:0031338)3.01833062
77auditory behavior (GO:0031223)3.01548512
78synapse assembly (GO:0007416)2.99255761
79dopamine receptor signaling pathway (GO:0007212)2.98329716
80regulation of postsynaptic membrane potential (GO:0060078)2.98000726
81cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.96912923
82positive regulation of neurotransmitter secretion (GO:0001956)2.95382755
83mating behavior (GO:0007617)2.95073927
84potassium ion homeostasis (GO:0055075)2.93907982
85cell differentiation in hindbrain (GO:0021533)2.93027297
86chemosensory behavior (GO:0007635)2.92908407
87neuromuscular synaptic transmission (GO:0007274)2.91147240
88* cerebellar Purkinje cell layer development (GO:0021680)2.90812197
89long-term synaptic potentiation (GO:0060291)2.90128533
90positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.88962030
91behavioral response to cocaine (GO:0048148)2.88597386
92regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.88549857
93pyrimidine nucleobase catabolic process (GO:0006208)2.88248807
94regulation of neurotransmitter transport (GO:0051588)2.87574210
95innervation (GO:0060384)2.87315853
96regulation of voltage-gated calcium channel activity (GO:1901385)2.87186445
97positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.87177405
98presynaptic membrane assembly (GO:0097105)2.86479485
99regulation of calcium ion-dependent exocytosis (GO:0017158)2.85739116
100synaptic vesicle endocytosis (GO:0048488)2.85572468
101response to auditory stimulus (GO:0010996)2.85525703
102vesicle transport along microtubule (GO:0047496)2.85520272
103establishment of mitochondrion localization (GO:0051654)2.85407080
104regulation of ARF protein signal transduction (GO:0032012)2.85302997
105regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.83977186
106negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.81897935
107regulation of dendritic spine morphogenesis (GO:0061001)2.81751032
108regulation of synaptic transmission, glutamatergic (GO:0051966)2.80634334
109organelle transport along microtubule (GO:0072384)2.80276578
110positive regulation of potassium ion transport (GO:0043268)2.79281039
111nerve growth factor signaling pathway (GO:0038180)2.79082773
112mechanosensory behavior (GO:0007638)2.77829960
113membrane depolarization during action potential (GO:0086010)2.77661322
114postsynaptic membrane organization (GO:0001941)2.76204065
115cell communication by electrical coupling (GO:0010644)2.75538789
116positive regulation of potassium ion transmembrane transport (GO:1901381)2.75394137
117positive regulation of synapse assembly (GO:0051965)2.74885455
118membrane hyperpolarization (GO:0060081)2.74391600
119dendritic spine organization (GO:0097061)2.73258858
120detection of calcium ion (GO:0005513)2.73120594
121suckling behavior (GO:0001967)2.72182287
122regulation of synaptic transmission, GABAergic (GO:0032228)2.71697477
123membrane depolarization (GO:0051899)2.70385435
124neuromuscular process (GO:0050905)2.70308883

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.58034633
2GBX2_23144817_ChIP-Seq_PC3_Human3.08659442
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.02792945
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.95662591
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.86293793
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.70721643
7* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59879684
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.59552427
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.59552427
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.54583173
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.54294461
12RARB_27405468_Chip-Seq_BRAIN_Mouse2.52776634
13DROSHA_22980978_ChIP-Seq_HELA_Human2.49742831
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47736164
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.44414903
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.42319104
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.39657265
18TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.31443421
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.30602785
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.30530420
21* REST_18959480_ChIP-ChIP_MESCs_Mouse2.25699344
22RCOR2_21632747_ChIP-Seq_MESCs_Mouse2.21261417
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.17351518
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.13820002
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.97671759
26THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.97099391
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.92887190
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.88934928
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87191599
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.82420038
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.75675966
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.74151526
33AR_21572438_ChIP-Seq_LNCaP_Human1.70631639
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.51095803
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.49257168
36SMAD4_21799915_ChIP-Seq_A2780_Human1.44283993
37ZFP281_27345836_Chip-Seq_ESCs_Mouse1.38694613
38TP53_20018659_ChIP-ChIP_R1E_Mouse1.37947528
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.35310918
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.34991521
41NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33907798
42SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33505017
43ZNF274_21170338_ChIP-Seq_K562_Hela1.32977583
44ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.32619594
45SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.32321182
46* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.29895597
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28863911
48DNAJC2_21179169_ChIP-ChIP_NT2_Human1.28702151
49TAF15_26573619_Chip-Seq_HEK293_Human1.28480100
50RING1B_27294783_Chip-Seq_ESCs_Mouse1.26685700
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.26095389
52IGF1R_20145208_ChIP-Seq_DFB_Human1.26054570
53SOX2_21211035_ChIP-Seq_LN229_Gbm1.23946240
54ZFP57_27257070_Chip-Seq_ESCs_Mouse1.23729492
55WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23175872
56STAT3_23295773_ChIP-Seq_U87_Human1.22715034
57PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22686212
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20752998
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.18871383
60RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18728933
61TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17472288
62TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16386841
63KDM2B_26808549_Chip-Seq_K562_Human1.13455645
64BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12842915
65RBPJ_22232070_ChIP-Seq_NCS_Mouse1.12547813
66AR_19668381_ChIP-Seq_PC3_Human1.12224046
67* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.11933966
68P300_19829295_ChIP-Seq_ESCs_Human1.11076453
69CBX2_27304074_Chip-Seq_ESCs_Mouse1.10587033
70CDX2_19796622_ChIP-Seq_MESCs_Mouse1.10018553
71VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08320472
72RING1B_27294783_Chip-Seq_NPCs_Mouse1.07705929
73ESR2_21235772_ChIP-Seq_MCF-7_Human1.07700880
74PIAS1_25552417_ChIP-Seq_VCAP_Human1.06616120
75* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.05553181
76TOP2B_26459242_ChIP-Seq_MCF-7_Human1.05461457
77LXR_22292898_ChIP-Seq_THP-1_Human1.05122409
78TCF4_23295773_ChIP-Seq_U87_Human1.02995754
79WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.01836213
80ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01523464
81AR_25329375_ChIP-Seq_VCAP_Human1.01251786
82TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01087805
83GATA1_26923725_Chip-Seq_HPCs_Mouse1.01060135
84CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01007605
85TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98683297
86P53_22127205_ChIP-Seq_FIBROBLAST_Human0.98425917
87EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.97966839
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97188914
89* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.96842202
90ARNT_22903824_ChIP-Seq_MCF-7_Human0.96451311
91OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96411281
92YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95613304
93PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95451513
94SMAD3_21741376_ChIP-Seq_ESCs_Human0.94826745
95TRIM28_21343339_ChIP-Seq_HEK293_Human0.94617050
96* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.93506666
97AHR_22903824_ChIP-Seq_MCF-7_Human0.91871213
98* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90883043
99TET1_21490601_ChIP-Seq_MESCs_Mouse0.90449503
100RNF2_27304074_Chip-Seq_NSC_Mouse0.90409952
101SMAD4_21741376_ChIP-Seq_HESCs_Human0.90404805
102AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.89806663
103NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89510375
104CTCF_27219007_Chip-Seq_Bcells_Human0.88526882
105RUNX2_22187159_ChIP-Seq_PCA_Human0.86866602
106ESR1_15608294_ChIP-ChIP_MCF-7_Human0.86743641
107EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86203187
108TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.86090718
109GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85873149
110SRY_22984422_ChIP-ChIP_TESTIS_Rat0.85317494
111ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.84938887
112GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84575432
113PRDM14_20953172_ChIP-Seq_ESCs_Human0.83939973
114PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.83937940
115ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83926540
116SMC4_20622854_ChIP-Seq_HELA_Human0.83421037
117LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83133171
118NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.83078729
119CREB1_26743006_Chip-Seq_LNCaP_Human0.82753342
120POU3F2_20337985_ChIP-ChIP_501MEL_Human0.81928659
121SMAD4_21741376_ChIP-Seq_EPCs_Human0.80664347
122ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80493729
123SMAD3_21741376_ChIP-Seq_HESCs_Human0.79518677
124KLF4_19829295_ChIP-Seq_ESCs_Human0.78581241
125OCT4_19829295_ChIP-Seq_ESCs_Human0.77232250
126SOX3_22085726_ChIP-Seq_NPCs_Mouse0.76493932
127DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.74114650
128ISL1_27105846_Chip-Seq_CPCs_Mouse0.73351473
129TET1_21451524_ChIP-Seq_MESCs_Mouse0.72118476
130CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.72007515
131UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.71169222
132RUNX1_26923725_Chip-Seq_HPCs_Mouse0.70961337
133SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.70830202
134DPY_21335234_ChIP-Seq_ESCs_Mouse0.70507875
135MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.69969118
136ZNF263_19887448_ChIP-Seq_K562_Human0.69426161
137PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.68242570
138POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.67686247

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.47711737
2MP0003880_abnormal_central_pattern4.41775877
3MP0004270_analgesia3.83668650
4MP0003635_abnormal_synaptic_transmissio3.75395016
5MP0009745_abnormal_behavioral_response3.04219750
6MP0002064_seizures3.02374834
7MP0002063_abnormal_learning/memory/cond2.92020959
8MP0005423_abnormal_somatic_nervous2.91561551
9MP0009046_muscle_twitch2.78209269
10MP0002272_abnormal_nervous_system2.72410947
11MP0003123_paternal_imprinting2.66131879
12MP0002734_abnormal_mechanical_nocicepti2.59765501
13MP0002572_abnormal_emotion/affect_behav2.53522549
14MP0001486_abnormal_startle_reflex2.52513808
15MP0001968_abnormal_touch/_nociception2.32891835
16MP0009780_abnormal_chondrocyte_physiolo2.30534211
17MP0002909_abnormal_adrenal_gland2.27522490
18MP0002822_catalepsy2.27016913
19MP0003329_amyloid_beta_deposits2.23585723
20MP0000566_synostosis2.20045483
21MP0008569_lethality_at_weaning2.01910784
22MP0001501_abnormal_sleep_pattern1.98651772
23MP0002733_abnormal_thermal_nociception1.98128908
24MP0001970_abnormal_pain_threshold1.97646844
25MP0001440_abnormal_grooming_behavior1.93744205
26MP0000920_abnormal_myelination1.92745285
27MP0004885_abnormal_endolymph1.89939614
28MP0002067_abnormal_sensory_capabilities1.81337574
29MP0002735_abnormal_chemical_nociception1.78383620
30MP0004043_abnormal_pH_regulation1.77909889
31MP0003283_abnormal_digestive_organ1.76529416
32MP0003121_genomic_imprinting1.75523163
33MP0005645_abnormal_hypothalamus_physiol1.75166362
34MP0000778_abnormal_nervous_system1.73403048
35MP0000955_abnormal_spinal_cord1.72728285
36MP0000013_abnormal_adipose_tissue1.71651733
37MP0001529_abnormal_vocalization1.68003072
38MP0002736_abnormal_nociception_after1.67238368
39MP0005646_abnormal_pituitary_gland1.66751788
40MP0002184_abnormal_innervation1.65162124
41MP0004811_abnormal_neuron_physiology1.62609229
42MP0004924_abnormal_behavior1.58695886
43MP0005386_behavior/neurological_phenoty1.58695886
44MP0002557_abnormal_social/conspecific_i1.58629142
45MP0003633_abnormal_nervous_system1.56508390
46MP0004858_abnormal_nervous_system1.55430621
47MP0003122_maternal_imprinting1.54847460
48MP0004142_abnormal_muscle_tone1.53289545
49MP0002066_abnormal_motor_capabilities/c1.46321597
50MP0002882_abnormal_neuron_morphology1.45505206
51MP0006276_abnormal_autonomic_nervous1.42067362
52MP0003690_abnormal_glial_cell1.41626593
53MP0003634_abnormal_glial_cell1.34672951
54MP0003787_abnormal_imprinting1.34211985
55MP0003631_nervous_system_phenotype1.33870103
56MP0001502_abnormal_circadian_rhythm1.33309116
57MP0002229_neurodegeneration1.31823253
58MP0003879_abnormal_hair_cell1.31785128
59MP0001905_abnormal_dopamine_level1.30868732
60MP0004145_abnormal_muscle_electrophysio1.23952196
61MP0004742_abnormal_vestibular_system1.23245240
62MP0001984_abnormal_olfaction1.09937031
63MP0003632_abnormal_nervous_system1.08758709
64MP0010386_abnormal_urinary_bladder1.08075973
65MP0004133_heterotaxia1.05605003
66MP0002152_abnormal_brain_morphology1.03415746
67MP0000579_abnormal_nail_morphology1.02351253
68MP0005551_abnormal_eye_electrophysiolog0.98442268
69MP0000604_amyloidosis0.96887751
70MP0001485_abnormal_pinna_reflex0.96635068
71MP0002069_abnormal_eating/drinking_beha0.94968521
72MP0003861_abnormal_nervous_system0.93525080
73MP0003172_abnormal_lysosome_physiology0.90755322
74MP0008961_abnormal_basal_metabolism0.89993930
75MP0002837_dystrophic_cardiac_calcinosis0.89732206
76MP0001299_abnormal_eye_distance/0.89308966
77MP0000631_abnormal_neuroendocrine_gland0.89293917
78MP0006072_abnormal_retinal_apoptosis0.88416275
79MP0000003_abnormal_adipose_tissue0.88322936
80MP0005535_abnormal_body_temperature0.87200161
81MP0003183_abnormal_peptide_metabolism0.87165181
82MP0001177_atelectasis0.87025663
83MP0003938_abnormal_ear_development0.86724062
84MP0002089_abnormal_postnatal_growth/wei0.86372121
85MP0001963_abnormal_hearing_physiology0.82110004
86MP0002638_abnormal_pupillary_reflex0.81639412
87MP0004085_abnormal_heartbeat0.80333724
88MP0003195_calcinosis0.79704562
89MP0003942_abnormal_urinary_system0.79078877
90MP0002693_abnormal_pancreas_physiology0.77750697
91MP0005499_abnormal_olfactory_system0.77645380
92MP0005394_taste/olfaction_phenotype0.77645380
93MP0002752_abnormal_somatic_nervous0.76651002
94MP0005379_endocrine/exocrine_gland_phen0.74944815
95MP0005171_absent_coat_pigmentation0.74551005
96MP0003075_altered_response_to0.74423663
97MP0008877_abnormal_DNA_methylation0.74284804
98MP0000751_myopathy0.72811746
99MP0000537_abnormal_urethra_morphology0.72784306
100MP0001944_abnormal_pancreas_morphology0.71336089
101MP0005409_darkened_coat_color0.71248830
102MP0000747_muscle_weakness0.70835597
103MP0008872_abnormal_physiological_respon0.70450705
104MP0000534_abnormal_ureter_morphology0.70033201
105MP0001188_hyperpigmentation0.69368671
106MP0003137_abnormal_impulse_conducting0.66848190
107MP0000026_abnormal_inner_ear0.66454056
108MP0002090_abnormal_vision0.65551100
109MP0000639_abnormal_adrenal_gland0.65267734
110MP0002082_postnatal_lethality0.64367456
111MP0010770_preweaning_lethality0.64367456
112MP0008874_decreased_physiological_sensi0.63998349
113MP0001986_abnormal_taste_sensitivity0.62996324
114MP0010769_abnormal_survival0.62703941
115MP0003119_abnormal_digestive_system0.62654047
116MP0001664_abnormal_digestion0.61763167
117MP0001346_abnormal_lacrimal_gland0.61543573
118MP0002249_abnormal_larynx_morphology0.60613932
119MP0002234_abnormal_pharynx_morphology0.60037706
120MP0001348_abnormal_lacrimal_gland0.59319160
121MP0001765_abnormal_ion_homeostasis0.59040354
122MP0001943_abnormal_respiration0.58921683
123MP0009379_abnormal_foot_pigmentation0.58908576
124MP0010768_mortality/aging0.58854630
125MP0002081_perinatal_lethality0.56886450
126MP0000462_abnormal_digestive_system0.55290961

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.91554372
2Myokymia (HP:0002411)5.88692817
3Visual hallucinations (HP:0002367)4.73223759
4Focal seizures (HP:0007359)4.55646592
5Supranuclear gaze palsy (HP:0000605)4.50676751
6Neurofibrillary tangles (HP:0002185)4.24585865
7Action tremor (HP:0002345)4.07728690
8Ankle clonus (HP:0011448)4.01766255
9Epileptic encephalopathy (HP:0200134)3.69326061
10Cerebral inclusion bodies (HP:0100314)3.62328168
11Progressive cerebellar ataxia (HP:0002073)3.60516084
12Atonic seizures (HP:0010819)3.53011716
13Dysmetria (HP:0001310)3.31526966
14Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.30187802
15Absence seizures (HP:0002121)3.26997151
16Generalized tonic-clonic seizures (HP:0002069)3.21926005
17Spastic gait (HP:0002064)3.19695133
18Abnormality of the corticospinal tract (HP:0002492)3.18324703
19Akinesia (HP:0002304)3.16006138
20Dialeptic seizures (HP:0011146)3.14242502
21Depression (HP:0000716)3.14084812
22Pheochromocytoma (HP:0002666)3.12396857
23Papilledema (HP:0001085)3.08498119
24Intention tremor (HP:0002080)3.04578330
25Anxiety (HP:0000739)3.04489700
26Febrile seizures (HP:0002373)2.96354600
27Polyphagia (HP:0002591)2.94859891
28Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.94489234
29Degeneration of the lateral corticospinal tracts (HP:0002314)2.94489234
30Insidious onset (HP:0003587)2.88490792
31Termporal pattern (HP:0011008)2.88490792
32Sleep apnea (HP:0010535)2.88184334
33Truncal ataxia (HP:0002078)2.86611816
34Broad-based gait (HP:0002136)2.83703926
35Scanning speech (HP:0002168)2.80997176
36Dysdiadochokinesis (HP:0002075)2.79993672
37Agitation (HP:0000713)2.75454306
38Impaired vibration sensation in the lower limbs (HP:0002166)2.73748376
39Postural instability (HP:0002172)2.71802376
40Peripheral hypomyelination (HP:0007182)2.69180948
41Mutism (HP:0002300)2.69154738
42Poor eye contact (HP:0000817)2.67242148
43Megalencephaly (HP:0001355)2.66841645
44Abnormal eating behavior (HP:0100738)2.66463769
45Status epilepticus (HP:0002133)2.63410827
46Urinary bladder sphincter dysfunction (HP:0002839)2.62772227
47Hemiparesis (HP:0001269)2.62523690
48Neuroendocrine neoplasm (HP:0100634)2.61584327
49Limb dystonia (HP:0002451)2.60995888
50Obstructive sleep apnea (HP:0002870)2.59475693
51Urinary urgency (HP:0000012)2.57092102
52Gaze-evoked nystagmus (HP:0000640)2.55893754
53Epileptiform EEG discharges (HP:0011182)2.54207217
54EEG with generalized epileptiform discharges (HP:0011198)2.53493538
55Hypsarrhythmia (HP:0002521)2.48587343
56Abnormal social behavior (HP:0012433)2.47973242
57Impaired social interactions (HP:0000735)2.47973242
58Torticollis (HP:0000473)2.42254617
59Lower limb muscle weakness (HP:0007340)2.40064637
60Abnormality of binocular vision (HP:0011514)2.38672986
61Diplopia (HP:0000651)2.38672986
62Increased circulating renin level (HP:0000848)2.36973197
63Clonus (HP:0002169)2.36973018
64Neuronal loss in central nervous system (HP:0002529)2.35730362
65Onion bulb formation (HP:0003383)2.31996709
66Drooling (HP:0002307)2.31931408
67Excessive salivation (HP:0003781)2.31931408
68Turricephaly (HP:0000262)2.27873900
69Ventricular fibrillation (HP:0001663)2.26236421
70Impaired smooth pursuit (HP:0007772)2.23571907
71Insomnia (HP:0100785)2.20502306
72Focal dystonia (HP:0004373)2.19581674
73Genetic anticipation (HP:0003743)2.18704157
74Bradykinesia (HP:0002067)2.17080727
75Progressive inability to walk (HP:0002505)2.17014162
76Postural tremor (HP:0002174)2.16415357
77Poor suck (HP:0002033)2.13213452
78Bronchomalacia (HP:0002780)2.12843730
79Abnormality of calcium-phosphate metabolism (HP:0100530)2.12222947
80Annular pancreas (HP:0001734)2.11505931
81Amblyopia (HP:0000646)2.11502139
82Aplasia involving bones of the upper limbs (HP:0009823)2.10094467
83Aplasia of the phalanges of the hand (HP:0009802)2.10094467
84Aplasia involving bones of the extremities (HP:0009825)2.10094467
85Hemiplegia (HP:0002301)2.09535560
86Hyperventilation (HP:0002883)2.08895289
87Hypoventilation (HP:0002791)2.04798099
88Craniofacial dystonia (HP:0012179)2.01259220
89Psychosis (HP:0000709)2.00674827
90Retinal dysplasia (HP:0007973)2.00169878
91Rigidity (HP:0002063)1.98370518
92Gait ataxia (HP:0002066)1.96254428
93Blue irides (HP:0000635)1.95883570
94Abnormality of saccadic eye movements (HP:0000570)1.93569223
95Hyperinsulinemic hypoglycemia (HP:0000825)1.92779635
96Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.91171362
97Rapidly progressive (HP:0003678)1.90847644
98Generalized myoclonic seizures (HP:0002123)1.90360553
99Menstrual irregularities (HP:0000858)1.87903551
100Apathy (HP:0000741)1.87797626
101Cerebral hypomyelination (HP:0006808)1.87676347
102Abnormality of ocular smooth pursuit (HP:0000617)1.86718472
103Morphological abnormality of the pyramidal tract (HP:0002062)1.86481907
104Spastic tetraparesis (HP:0001285)1.84743224
105Slow saccadic eye movements (HP:0000514)1.83992068
106Spastic tetraplegia (HP:0002510)1.83931526
107Hepatoblastoma (HP:0002884)1.83636927
108Tetraplegia (HP:0002445)1.83370110
109Absent speech (HP:0001344)1.82312641
110Bundle branch block (HP:0011710)1.81736817
111Hand muscle atrophy (HP:0009130)1.81582992
112Failure to thrive in infancy (HP:0001531)1.80991121
113Alacrima (HP:0000522)1.79810966
114Choreoathetosis (HP:0001266)1.79494382
115Stereotypic behavior (HP:0000733)1.79408775
116Neoplasm of the peripheral nervous system (HP:0100007)1.78631648
117Abnormality of the lower motor neuron (HP:0002366)1.77258444
118Diminished movement (HP:0002374)1.76067647
119Amyotrophic lateral sclerosis (HP:0007354)1.74938781
120Overriding aorta (HP:0002623)1.72563219
121Muscular hypotonia of the trunk (HP:0008936)1.72211486
122Incomplete penetrance (HP:0003829)1.70093525
123Restlessness (HP:0000711)1.69535715
124Diminished motivation (HP:0000745)1.69078519
125Hyperacusis (HP:0010780)1.67087235
126Impaired vibratory sensation (HP:0002495)1.65956668
127Hyperthyroidism (HP:0000836)1.62281926
128Fetal akinesia sequence (HP:0001989)1.60896924
129Distal upper limb amyotrophy (HP:0007149)1.59736344
130Upper limb amyotrophy (HP:0009129)1.59736344
131Shawl scrotum (HP:0000049)1.59605004
132CNS hypomyelination (HP:0003429)1.59368257
133Hypoplasia of the brainstem (HP:0002365)1.56360926
134Aplasia/Hypoplasia of the brainstem (HP:0007362)1.56360926
135Delusions (HP:0000746)1.54705571
136Abnormality of the aortic arch (HP:0012303)1.54663023

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.02876175
2MAP3K93.31205672
3MARK13.07480292
4EPHA43.07473954
5PRKD32.69187277
6MAP3K42.44704041
7NTRK12.38750018
8PAK62.37356597
9MINK12.25076861
10UHMK12.23168527
11NTRK22.02779405
12KSR21.94856305
13DAPK21.87545672
14MAP2K71.86271082
15LATS21.79840670
16PNCK1.70429001
17STK391.69099447
18CDK51.60230356
19OXSR11.59298676
20CAMKK11.58715382
21MAP3K21.56753151
22DYRK21.49245628
23CASK1.41436879
24SGK2231.40191426
25SGK4941.40191426
26CDK191.40164131
27MAP2K41.37646202
28WNK11.33714034
29GRK51.31023758
30ICK1.30980133
31MAPKAPK51.30254417
32CAMK2B1.29639656
33PRKCH1.23546246
34INSRR1.22893711
35RIPK11.19141952
36PHKG11.18178631
37PHKG21.18178631
38PKN11.17744328
39MAPK131.17642223
40CAMKK21.16531325
41WNK41.15114654
42TYRO31.11210051
43TRIB31.09710382
44CAMK2A1.06042326
45PAK31.04933143
46PRKCG1.03891013
47MARK21.01438464
48MAP3K11.01150860
49TNIK1.00879956
50CAMK2D0.99250169
51RIPK40.98781058
52ARAF0.95124312
53FES0.95099425
54PLK20.94904390
55PRPF4B0.94749903
56STK380.94278734
57KSR10.94179906
58FGFR20.92506053
59RET0.91738694
60CSNK1G20.91097610
61STK110.90515694
62CDK150.90510950
63CDK140.90372853
64WNK30.90006549
65NEK60.89963852
66CDK180.89184733
67MAP3K120.88958315
68ALK0.88247054
69TESK10.85155930
70PINK10.84201751
71SIK10.83652506
72HIPK20.81667974
73BCR0.79602504
74CAMK2G0.78547061
75CAMK10.78526654
76CDK11A0.78091931
77CDC42BPA0.77742196
78LIMK10.74139426
79MAP3K130.73286440
80PRKCE0.71613134
81SIK20.71371247
82CAMK1G0.68771787
83SCYL20.68572276
84PDPK10.68122643
85DAPK10.67464263
86DYRK1A0.67003238
87SGK10.62505984
88MAPK150.61114936
89ROCK20.59625471
90BRSK10.59381546
91PDK10.59289023
92MAP3K110.59274748
93CAMK1D0.58850621
94PTK20.58294479
95RPS6KA20.58041634
96CSNK1E0.56872294
97PRKD10.55712165
98CSNK1G30.54948355
99MAP2K60.53849280
100CSNK1A1L0.52772767
101FYN0.51301111
102RPS6KA30.51159255
103TAOK10.50103564
104EPHA20.49914232
105FGFR40.49333603
106MAPK100.48989267
107SGK30.48310046
108PRKCI0.47100092
109EPHB10.47093602
110BMPR20.46389471
111MUSK0.46285721
112SGK20.44739250
113PRKCZ0.44179235
114EPHB20.43107096
115FER0.42832195
116LMTK20.42432120
117DAPK30.42395397
118ERBB20.42368961
119PRKD20.42229981
120MAPK120.41612720
121CAMK40.37507992
122CSNK1D0.37114177
123BRAF0.37088748
124CSNK1G10.36723001
125MAPK80.36607979

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.02114289
2Nicotine addiction_Homo sapiens_hsa050333.01939420
3GABAergic synapse_Homo sapiens_hsa047272.75802850
4Circadian entrainment_Homo sapiens_hsa047132.50370694
5Glutamatergic synapse_Homo sapiens_hsa047242.45454328
6Insulin secretion_Homo sapiens_hsa049112.45003681
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.42511445
8Morphine addiction_Homo sapiens_hsa050322.35739140
9Long-term potentiation_Homo sapiens_hsa047202.31593349
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30111705
11Amphetamine addiction_Homo sapiens_hsa050312.28692551
12Olfactory transduction_Homo sapiens_hsa047402.19946679
13Dopaminergic synapse_Homo sapiens_hsa047282.04550723
14Cocaine addiction_Homo sapiens_hsa050301.96212500
15Salivary secretion_Homo sapiens_hsa049701.93363906
16Cholinergic synapse_Homo sapiens_hsa047251.85659310
17Nitrogen metabolism_Homo sapiens_hsa009101.84083597
18Gastric acid secretion_Homo sapiens_hsa049711.82860859
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.82576112
20Taste transduction_Homo sapiens_hsa047421.78173123
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.71967311
22Serotonergic synapse_Homo sapiens_hsa047261.67151544
23Long-term depression_Homo sapiens_hsa047301.67038137
24Vitamin B6 metabolism_Homo sapiens_hsa007501.64423766
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57401253
26Type II diabetes mellitus_Homo sapiens_hsa049301.57321176
27Renin secretion_Homo sapiens_hsa049241.53888907
28Maturity onset diabetes of the young_Homo sapiens_hsa049501.41627953
29Collecting duct acid secretion_Homo sapiens_hsa049661.38965469
30Oxytocin signaling pathway_Homo sapiens_hsa049211.32821287
31Vibrio cholerae infection_Homo sapiens_hsa051101.29567233
32Gap junction_Homo sapiens_hsa045401.27403648
33Calcium signaling pathway_Homo sapiens_hsa040201.27048075
34GnRH signaling pathway_Homo sapiens_hsa049121.24195981
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.23711294
36cAMP signaling pathway_Homo sapiens_hsa040241.20247606
37Pancreatic secretion_Homo sapiens_hsa049721.16134151
38Estrogen signaling pathway_Homo sapiens_hsa049151.12482173
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.11972335
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10810841
41Axon guidance_Homo sapiens_hsa043601.08023222
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.03598329
43Type I diabetes mellitus_Homo sapiens_hsa049401.01725530
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.99326605
45Oxidative phosphorylation_Homo sapiens_hsa001900.98773478
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96200473
47Dorso-ventral axis formation_Homo sapiens_hsa043200.94316929
48Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.93887153
49Melanogenesis_Homo sapiens_hsa049160.93753710
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91413621
51Thyroid hormone synthesis_Homo sapiens_hsa049180.90218746
52Carbohydrate digestion and absorption_Homo sapiens_hsa049730.89966509
53Cardiac muscle contraction_Homo sapiens_hsa042600.89587446
54ErbB signaling pathway_Homo sapiens_hsa040120.87918123
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86311975
56Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.85545097
57Glioma_Homo sapiens_hsa052140.84554076
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.82303278
59SNARE interactions in vesicular transport_Homo sapiens_hsa041300.79060969
60Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.77810984
61Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.73707907
62Parkinsons disease_Homo sapiens_hsa050120.72527671
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.68041448
64Phototransduction_Homo sapiens_hsa047440.66974808
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66525391
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.66456508
67Ether lipid metabolism_Homo sapiens_hsa005650.62962904
68Renal cell carcinoma_Homo sapiens_hsa052110.62779094
69Prion diseases_Homo sapiens_hsa050200.62511562
70Hippo signaling pathway_Homo sapiens_hsa043900.62380081
71MAPK signaling pathway_Homo sapiens_hsa040100.61886383
72Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.61883019
73Dilated cardiomyopathy_Homo sapiens_hsa054140.61665667
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61236680
75Sphingolipid signaling pathway_Homo sapiens_hsa040710.59963378
76Choline metabolism in cancer_Homo sapiens_hsa052310.59875268
77Ras signaling pathway_Homo sapiens_hsa040140.59720931
78Endocytosis_Homo sapiens_hsa041440.59474196
79Oocyte meiosis_Homo sapiens_hsa041140.58362492
80Alcoholism_Homo sapiens_hsa050340.57384829
81Inositol phosphate metabolism_Homo sapiens_hsa005620.57207438
82Arginine and proline metabolism_Homo sapiens_hsa003300.56948955
83Arginine biosynthesis_Homo sapiens_hsa002200.56249994
84Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55700933
85Fatty acid biosynthesis_Homo sapiens_hsa000610.55505233
86Tight junction_Homo sapiens_hsa045300.52278531
87Ovarian steroidogenesis_Homo sapiens_hsa049130.51903014
88Bile secretion_Homo sapiens_hsa049760.51794235
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.50473881
90Glucagon signaling pathway_Homo sapiens_hsa049220.49065780
91Alzheimers disease_Homo sapiens_hsa050100.46812291
92Huntingtons disease_Homo sapiens_hsa050160.45334974
93AMPK signaling pathway_Homo sapiens_hsa041520.45172368
94Lysosome_Homo sapiens_hsa041420.44682566
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43606802
96Basal cell carcinoma_Homo sapiens_hsa052170.43109548
97VEGF signaling pathway_Homo sapiens_hsa043700.42875043
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.41532381
99Butanoate metabolism_Homo sapiens_hsa006500.40907039
100Rap1 signaling pathway_Homo sapiens_hsa040150.40450552
101Mineral absorption_Homo sapiens_hsa049780.39491667
102Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38855710
103Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37880429
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37866282
105Circadian rhythm_Homo sapiens_hsa047100.36724788
106Steroid biosynthesis_Homo sapiens_hsa001000.36645315
107Hedgehog signaling pathway_Homo sapiens_hsa043400.36571178
108Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34183863
109mTOR signaling pathway_Homo sapiens_hsa041500.33401371
110Sulfur metabolism_Homo sapiens_hsa009200.33308638
111Cyanoamino acid metabolism_Homo sapiens_hsa004600.33056575
112Insulin signaling pathway_Homo sapiens_hsa049100.32714253
113Histidine metabolism_Homo sapiens_hsa003400.32350728
114Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31805395
115Endometrial cancer_Homo sapiens_hsa052130.31317798
116beta-Alanine metabolism_Homo sapiens_hsa004100.31236734
117Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.31175920
118Fatty acid elongation_Homo sapiens_hsa000620.30804740
119Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.30485719
120Chemokine signaling pathway_Homo sapiens_hsa040620.29590331
121Wnt signaling pathway_Homo sapiens_hsa043100.29292836

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