DLG4

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





Description: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.70037045
2* synaptic vesicle maturation (GO:0016188)5.98237351
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.94762687
4* positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.79374761
5synaptic vesicle docking involved in exocytosis (GO:0016081)5.66957902
6* locomotory exploration behavior (GO:0035641)5.55673349
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.51388602
8glutamate secretion (GO:0014047)5.42137578
9synaptic vesicle exocytosis (GO:0016079)5.41702758
10regulation of synaptic vesicle exocytosis (GO:2000300)5.27297699
11regulation of synapse structural plasticity (GO:0051823)5.01612706
12cerebellar granule cell differentiation (GO:0021707)5.01375659
13* regulation of glutamate receptor signaling pathway (GO:1900449)4.91866936
14layer formation in cerebral cortex (GO:0021819)4.84536256
15* vocalization behavior (GO:0071625)4.82762271
16* regulation of neuronal synaptic plasticity (GO:0048168)4.77991149
17regulation of synaptic vesicle transport (GO:1902803)4.68447700
18neurotransmitter secretion (GO:0007269)4.65292178
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.57840645
20* regulation of long-term neuronal synaptic plasticity (GO:0048169)4.56876618
21amino acid import (GO:0043090)4.44014841
22neuronal action potential propagation (GO:0019227)4.21160046
23* exploration behavior (GO:0035640)4.20968419
24synaptic transmission, glutamatergic (GO:0035249)4.18339656
25long-term memory (GO:0007616)4.14699914
26gamma-aminobutyric acid transport (GO:0015812)4.10275320
27potassium ion homeostasis (GO:0055075)4.03497318
28* protein localization to synapse (GO:0035418)4.03369792
29cellular potassium ion homeostasis (GO:0030007)4.03291685
30sodium ion export (GO:0071436)4.02964157
31membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.00800843
32regulation of dendritic spine morphogenesis (GO:0061001)4.00182123
33proline transport (GO:0015824)3.99464436
34neuron cell-cell adhesion (GO:0007158)3.94398281
35regulation of synapse maturation (GO:0090128)3.89288138
36glutamate receptor signaling pathway (GO:0007215)3.86648753
37negative regulation of synaptic transmission, GABAergic (GO:0032229)3.86617887
38activation of protein kinase A activity (GO:0034199)3.85496561
39neuron-neuron synaptic transmission (GO:0007270)3.84504695
40auditory behavior (GO:0031223)3.82235449
41negative regulation of dendrite morphogenesis (GO:0050774)3.81047933
42* neuromuscular process controlling balance (GO:0050885)3.76709558
43positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.74039401
44* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.73478499
45* positive regulation of membrane potential (GO:0045838)3.72987214
46cytoskeletal anchoring at plasma membrane (GO:0007016)3.72737174
47prepulse inhibition (GO:0060134)3.71390506
48* regulation of synaptic plasticity (GO:0048167)3.71215604
49positive regulation of synaptic transmission, GABAergic (GO:0032230)3.70689685
50neurotransmitter transport (GO:0006836)3.63839149
51positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.61501831
52glycine transport (GO:0015816)3.60190271
53positive regulation of synapse maturation (GO:0090129)3.59084829
54G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.59077488
55response to auditory stimulus (GO:0010996)3.57959693
56positive regulation of neurotransmitter transport (GO:0051590)3.56643374
57positive regulation of neurotransmitter secretion (GO:0001956)3.54398671
58axon ensheathment in central nervous system (GO:0032291)3.53943094
59central nervous system myelination (GO:0022010)3.53943094
60regulation of neurotransmitter secretion (GO:0046928)3.53725669
61* regulation of postsynaptic membrane potential (GO:0060078)3.51525814
62regulation of ARF protein signal transduction (GO:0032012)3.51432358
63regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.51415745
64cellular sodium ion homeostasis (GO:0006883)3.49137762
65cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.42006067
66regulation of neurotransmitter levels (GO:0001505)3.41361046
67dendrite morphogenesis (GO:0048813)3.41005950
68transmission of nerve impulse (GO:0019226)3.39082296
69neuronal ion channel clustering (GO:0045161)3.37722309
70* dendritic spine morphogenesis (GO:0060997)3.35137090
71cell communication by electrical coupling (GO:0010644)3.34694830
72synaptic vesicle endocytosis (GO:0048488)3.34563964
73regulation of synaptic transmission, glutamatergic (GO:0051966)3.34521883
74long-term synaptic potentiation (GO:0060291)3.34176087
75gamma-aminobutyric acid signaling pathway (GO:0007214)3.32605325
76regulation of neurotransmitter transport (GO:0051588)3.30871711
77cell migration in hindbrain (GO:0021535)3.29039805
78regulation of dendritic spine development (GO:0060998)3.27024190
79L-amino acid import (GO:0043092)3.26783637
80positive regulation of dendritic spine development (GO:0060999)3.25595887
81* regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.24372215
82regulation of vesicle fusion (GO:0031338)3.22103725
83neuromuscular process controlling posture (GO:0050884)3.20086923
84vesicle transport along microtubule (GO:0047496)3.19382032
85neuron recognition (GO:0008038)3.19035976
86cerebellar Purkinje cell differentiation (GO:0021702)3.18372604
87membrane hyperpolarization (GO:0060081)3.18366579
88acidic amino acid transport (GO:0015800)3.13433272
89vesicle docking involved in exocytosis (GO:0006904)3.13104447
90positive regulation of dendrite development (GO:1900006)3.12932416
91cell differentiation in hindbrain (GO:0021533)3.12162720
92positive regulation of dendritic spine morphogenesis (GO:0061003)3.06846270
93postsynaptic membrane organization (GO:0001941)3.06546795
94regulation of female receptivity (GO:0045924)3.06519877
95regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.06388412
96membrane depolarization during action potential (GO:0086010)3.04805812
97neuromuscular synaptic transmission (GO:0007274)3.04225257
98chemosensory behavior (GO:0007635)3.04173866
99dopamine receptor signaling pathway (GO:0007212)3.04157852
100regulation of voltage-gated calcium channel activity (GO:1901385)3.02426693
101* membrane depolarization (GO:0051899)3.02352425
102presynaptic membrane organization (GO:0097090)3.02238780
103axonal fasciculation (GO:0007413)3.01118548
104behavioral defense response (GO:0002209)2.99798688
105behavioral fear response (GO:0001662)2.99798688
106innervation (GO:0060384)2.99442122
107* learning (GO:0007612)2.98925419
108* regulation of synaptic transmission (GO:0050804)2.98797818
109negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.97883587
110cerebellar Purkinje cell layer development (GO:0021680)2.97739296
111* positive regulation of synaptic transmission (GO:0050806)2.97620361
112regulation of exocytosis (GO:0017157)2.97348705
113* neuromuscular process (GO:0050905)2.96258254
114establishment of synaptic vesicle localization (GO:0097480)2.95228954
115synaptic vesicle transport (GO:0048489)2.95228954
116mating behavior (GO:0007617)2.95188477
117regulation of dendrite morphogenesis (GO:0048814)2.94825333
118potassium ion import (GO:0010107)2.94246699
119visual learning (GO:0008542)2.92732753
120* synaptic transmission (GO:0007268)2.92339185
121presynaptic membrane assembly (GO:0097105)2.92083280
122regulation of clathrin-mediated endocytosis (GO:2000369)2.91437552
123adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.90165435
124* neurotransmitter-gated ion channel clustering (GO:0072578)2.89674204
125regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.89356128
126synapse assembly (GO:0007416)2.85735535

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.63995614
2RARB_27405468_Chip-Seq_BRAIN_Mouse3.16344657
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.05219459
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.01425049
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.00207386
6DROSHA_22980978_ChIP-Seq_HELA_Human2.92385053
7REST_21632747_ChIP-Seq_MESCs_Mouse2.81131797
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80597470
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80597470
10GBX2_23144817_ChIP-Seq_PC3_Human2.69870409
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68486417
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59785832
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59081247
14MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.55181640
15EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.53056050
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.51954287
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.42615307
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.42052706
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41049028
20* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.35484565
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.34889084
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.32706634
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.30945404
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.27357777
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.09629775
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.07854651
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.92070002
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.91673363
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.85866292
30AR_21572438_ChIP-Seq_LNCaP_Human1.81819529
31DNAJC2_21179169_ChIP-ChIP_NT2_Human1.58397557
32KDM2B_26808549_Chip-Seq_K562_Human1.57170320
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.53295038
34ZFP281_18757296_ChIP-ChIP_E14_Mouse1.52667605
35RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.48598973
36WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.44145976
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.44012554
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43532531
39* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.40937341
40TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.36183743
41* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.33084499
42SMAD4_21799915_ChIP-Seq_A2780_Human1.31155849
43SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.30162768
44CTBP2_25329375_ChIP-Seq_LNCAP_Human1.28314940
45* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25514182
46AR_19668381_ChIP-Seq_PC3_Human1.24826206
47RING1B_27294783_Chip-Seq_NPCs_Mouse1.23422158
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.22351447
49ZFP281_27345836_Chip-Seq_ESCs_Mouse1.22300912
50ESR2_21235772_ChIP-Seq_MCF-7_Human1.21192030
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.16107262
52CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.15964433
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15868983
54* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.15155695
55TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.12694531
56ZNF274_21170338_ChIP-Seq_K562_Hela1.11919306
57PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.11608448
58P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10937031
59KDM2B_26808549_Chip-Seq_SUP-B15_Human1.10814300
60CTBP1_25329375_ChIP-Seq_LNCAP_Human1.09836494
61SMAD_19615063_ChIP-ChIP_OVARY_Human1.08491061
62PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.07656435
63RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.05448391
64ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.04849829
65RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04735161
66ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04240999
67VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.03613441
68STAT3_23295773_ChIP-Seq_U87_Human1.03447136
69GATA1_26923725_Chip-Seq_HPCs_Mouse1.02605607
70SRY_22984422_ChIP-ChIP_TESTIS_Rat1.02520827
71SMAD3_21741376_ChIP-Seq_EPCs_Human1.01786610
72TP53_20018659_ChIP-ChIP_R1E_Mouse1.01335424
73* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00815442
74TET1_21490601_ChIP-Seq_MESCs_Mouse1.00463946
75PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.99100588
76* CTCF_27219007_Chip-Seq_Bcells_Human0.99009477
77YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99003624
78AR_25329375_ChIP-Seq_VCAP_Human0.98960706
79SMAD3_21741376_ChIP-Seq_HESCs_Human0.98359632
80OCT4_19829295_ChIP-Seq_ESCs_Human0.98193026
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96088261
82SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95571799
83* CREB1_26743006_Chip-Seq_LNCaP_Human0.95378395
84THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.95061510
85SMAD4_21741376_ChIP-Seq_HESCs_Human0.94173239
86SMAD3_21741376_ChIP-Seq_ESCs_Human0.93408518
87SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93080309
88RXR_22108803_ChIP-Seq_LS180_Human0.92509953
89SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92408207
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91766701
91* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.91275289
92* DPY_21335234_ChIP-Seq_ESCs_Mouse0.91234255
93ARNT_22903824_ChIP-Seq_MCF-7_Human0.89824221
94KDM2B_26808549_Chip-Seq_JURKAT_Human0.89762972
95AHR_22903824_ChIP-Seq_MCF-7_Human0.89405248
96TCF4_23295773_ChIP-Seq_U87_Human0.88573256
97CTNNB1_20460455_ChIP-Seq_HCT116_Human0.88338153
98KLF4_19829295_ChIP-Seq_ESCs_Human0.87536178
99TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.87074168
100PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.86940135
101LXR_22292898_ChIP-Seq_THP-1_Human0.86128578
102KDM2B_26808549_Chip-Seq_DND41_Human0.85523196
103PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.84703576
104ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.84412997
105CDX2_19796622_ChIP-Seq_MESCs_Mouse0.84298026
106SMC4_20622854_ChIP-Seq_HELA_Human0.84180464
107P300_19829295_ChIP-Seq_ESCs_Human0.83572002
108TP53_23651856_ChIP-Seq_MEFs_Mouse0.83316791
109TOP2B_26459242_ChIP-Seq_MCF-7_Human0.82431886
110OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.82377423
111OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.81722348
112TRIM28_21343339_ChIP-Seq_HEK293_Human0.81612345
113RNF2_27304074_Chip-Seq_NSC_Mouse0.81310970
114NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81192422
115P68_20966046_ChIP-Seq_HELA_Human0.81063996
116TP53_16413492_ChIP-PET_HCT116_Human0.80419447
117* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.79854446
118RUNX1_26923725_Chip-Seq_HPCs_Mouse0.79323810
119TAF15_26573619_Chip-Seq_HEK293_Human0.79212283
120ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.78812582
121KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.78714452
122CBX2_27304074_Chip-Seq_ESCs_Mouse0.78312665
123TCF7_22412390_ChIP-Seq_EML_Mouse0.76729048
124SMAD4_21741376_ChIP-Seq_ESCs_Human0.76291190
125EGR1_19032775_ChIP-ChIP_M12_Human0.75445451
126* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.75074151
127MYC_19915707_ChIP-ChIP_AK7_Human0.74866547
128MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.72893269
129SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.72831868
130* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.72518656

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.64879632
2* MP0003635_abnormal_synaptic_transmissio4.39229451
3MP0003880_abnormal_central_pattern4.29268414
4MP0004270_analgesia3.96488354
5MP0002822_catalepsy3.86212278
6* MP0002063_abnormal_learning/memory/cond3.49490627
7* MP0009745_abnormal_behavioral_response3.43668709
8MP0002064_seizures3.19604506
9MP0005423_abnormal_somatic_nervous3.11351979
10MP0009046_muscle_twitch2.94858850
11MP0001968_abnormal_touch/_nociception2.77758028
12MP0002572_abnormal_emotion/affect_behav2.77710293
13MP0001486_abnormal_startle_reflex2.68042806
14MP0002734_abnormal_mechanical_nocicepti2.61191131
15MP0002272_abnormal_nervous_system2.49920527
16MP0009780_abnormal_chondrocyte_physiolo2.31296952
17MP0001501_abnormal_sleep_pattern2.15988185
18MP0008569_lethality_at_weaning2.07308628
19MP0004858_abnormal_nervous_system2.01964477
20MP0002909_abnormal_adrenal_gland2.00615668
21MP0004811_abnormal_neuron_physiology1.97338542
22MP0002733_abnormal_thermal_nociception1.91717151
23MP0001440_abnormal_grooming_behavior1.90734697
24MP0002736_abnormal_nociception_after1.90688755
25MP0003329_amyloid_beta_deposits1.86301295
26MP0002735_abnormal_chemical_nociception1.80030367
27* MP0001970_abnormal_pain_threshold1.77971225
28MP0004885_abnormal_endolymph1.75190425
29MP0002557_abnormal_social/conspecific_i1.73995038
30MP0002067_abnormal_sensory_capabilities1.70779207
31MP0005386_behavior/neurological_phenoty1.69542673
32MP0004924_abnormal_behavior1.69542673
33MP0003879_abnormal_hair_cell1.65730383
34MP0000778_abnormal_nervous_system1.65487590
35MP0005646_abnormal_pituitary_gland1.59667190
36MP0003123_paternal_imprinting1.59424127
37MP0000955_abnormal_spinal_cord1.58208714
38* MP0002184_abnormal_innervation1.51963900
39MP0003633_abnormal_nervous_system1.46521066
40* MP0002882_abnormal_neuron_morphology1.42891431
41* MP0002066_abnormal_motor_capabilities/c1.39902358
42MP0003075_altered_response_to1.36474420
43MP0001984_abnormal_olfaction1.32553026
44MP0000569_abnormal_digit_pigmentation1.31907023
45MP0003787_abnormal_imprinting1.29705952
46MP0003283_abnormal_digestive_organ1.27547243
47MP0008961_abnormal_basal_metabolism1.22285218
48MP0001502_abnormal_circadian_rhythm1.19215097
49MP0003631_nervous_system_phenotype1.19003627
50MP0005645_abnormal_hypothalamus_physiol1.16280752
51MP0001177_atelectasis1.10728861
52* MP0002152_abnormal_brain_morphology1.10462138
53MP0005551_abnormal_eye_electrophysiolog1.08838350
54MP0001348_abnormal_lacrimal_gland1.06561580
55MP0008872_abnormal_physiological_respon1.04858729
56MP0001529_abnormal_vocalization1.04331018
57MP0003690_abnormal_glial_cell1.02593274
58MP0008874_decreased_physiological_sensi1.00277065
59MP0005167_abnormal_blood-brain_barrier0.99807116
60MP0002229_neurodegeneration0.97291458
61MP0002069_abnormal_eating/drinking_beha0.97103901
62MP0002090_abnormal_vision0.96715312
63MP0001905_abnormal_dopamine_level0.94909690
64MP0004142_abnormal_muscle_tone0.94447149
65MP0000013_abnormal_adipose_tissue0.92568614
66MP0006276_abnormal_autonomic_nervous0.91890203
67MP0000751_myopathy0.90722806
68MP0003634_abnormal_glial_cell0.89669986
69MP0000920_abnormal_myelination0.87049806
70MP0010234_abnormal_vibrissa_follicle0.85372992
71MP0003122_maternal_imprinting0.83548920
72MP0000604_amyloidosis0.83114787
73MP0004085_abnormal_heartbeat0.82912357
74MP0003632_abnormal_nervous_system0.81210095
75MP0001346_abnormal_lacrimal_gland0.81116904
76MP0005535_abnormal_body_temperature0.80594076
77MP0005394_taste/olfaction_phenotype0.80121151
78MP0005499_abnormal_olfactory_system0.80121151
79MP0003172_abnormal_lysosome_physiology0.78048459
80MP0005623_abnormal_meninges_morphology0.72829413
81MP0004145_abnormal_muscle_electrophysio0.71175333
82MP0004510_myositis0.71140574
83MP0004233_abnormal_muscle_weight0.68510415
84MP0002752_abnormal_somatic_nervous0.66601782
85MP0004742_abnormal_vestibular_system0.66459377
86MP0000631_abnormal_neuroendocrine_gland0.66164133
87MP0003137_abnormal_impulse_conducting0.65100496
88MP0001963_abnormal_hearing_physiology0.63002803
89MP0003705_abnormal_hypodermis_morpholog0.59921186
90MP0000579_abnormal_nail_morphology0.59426960
91MP0005409_darkened_coat_color0.59045677
92MP0001299_abnormal_eye_distance/0.58215502
93MP0010386_abnormal_urinary_bladder0.57019977
94MP0001188_hyperpigmentation0.57014890
95MP0002089_abnormal_postnatal_growth/wei0.56890296
96MP0004130_abnormal_muscle_cell0.56471565
97MP0002249_abnormal_larynx_morphology0.56170495
98MP0001986_abnormal_taste_sensitivity0.55771663
99MP0005166_decreased_susceptibility_to0.55695567
100MP0003861_abnormal_nervous_system0.55452008
101MP0005187_abnormal_penis_morphology0.54550602
102* MP0010768_mortality/aging0.54324089
103* MP0010770_preweaning_lethality0.53412383
104* MP0002082_postnatal_lethality0.53412383
105MP0004147_increased_porphyrin_level0.52938580
106MP0003938_abnormal_ear_development0.52368348
107* MP0010769_abnormal_survival0.52035764
108MP0001664_abnormal_digestion0.51733436
109MP0001485_abnormal_pinna_reflex0.51662783
110MP0004043_abnormal_pH_regulation0.51544191
111MP0001943_abnormal_respiration0.51417310
112MP0002638_abnormal_pupillary_reflex0.50614743
113MP0003121_genomic_imprinting0.49610245
114* MP0003956_abnormal_body_size0.47300293
115MP0000026_abnormal_inner_ear0.46991616
116MP0005388_respiratory_system_phenotype0.45849260
117MP0002133_abnormal_respiratory_system0.45849260

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.80844603
2Focal motor seizures (HP:0011153)6.82619544
3Focal seizures (HP:0007359)5.46060195
4Visual hallucinations (HP:0002367)5.32361605
5Action tremor (HP:0002345)4.26616809
6Epileptic encephalopathy (HP:0200134)4.23679633
7Progressive cerebellar ataxia (HP:0002073)4.00723251
8Ankle clonus (HP:0011448)3.93311153
9Papilledema (HP:0001085)3.81591128
10Supranuclear gaze palsy (HP:0000605)3.73620920
11Febrile seizures (HP:0002373)3.70206295
12Poor eye contact (HP:0000817)3.66120357
13Atonic seizures (HP:0010819)3.60054906
14Impaired vibration sensation in the lower limbs (HP:0002166)3.58146094
15Depression (HP:0000716)3.55975763
16Absence seizures (HP:0002121)3.53530589
17Generalized tonic-clonic seizures (HP:0002069)3.51982572
18Urinary bladder sphincter dysfunction (HP:0002839)3.34891165
19Mutism (HP:0002300)3.34384392
20Broad-based gait (HP:0002136)3.34150059
21Abnormal social behavior (HP:0012433)3.31349106
22Impaired social interactions (HP:0000735)3.31349106
23Postural instability (HP:0002172)3.26490887
24Dysdiadochokinesis (HP:0002075)3.23407354
25Torticollis (HP:0000473)3.21785636
26Abnormality of the lower motor neuron (HP:0002366)3.20419400
27Dialeptic seizures (HP:0011146)3.18980091
28Anxiety (HP:0000739)3.14214592
29Gaze-evoked nystagmus (HP:0000640)3.13925695
30Dysmetria (HP:0001310)3.02878112
31Annular pancreas (HP:0001734)3.01840280
32Urinary urgency (HP:0000012)2.94271835
33Focal dystonia (HP:0004373)2.93316492
34Genetic anticipation (HP:0003743)2.93242009
35Abnormal eating behavior (HP:0100738)2.87759523
36Megalencephaly (HP:0001355)2.84309641
37Truncal ataxia (HP:0002078)2.81934879
38Intention tremor (HP:0002080)2.81934438
39Cerebral hypomyelination (HP:0006808)2.79189473
40Impaired smooth pursuit (HP:0007772)2.77189702
41Hemiplegia (HP:0002301)2.76065831
42Ventricular fibrillation (HP:0001663)2.73924766
43Pointed chin (HP:0000307)2.71767143
44Stereotypic behavior (HP:0000733)2.70622822
45Akinesia (HP:0002304)2.69035175
46Spastic gait (HP:0002064)2.68502929
47Sleep apnea (HP:0010535)2.66723325
48Insomnia (HP:0100785)2.63290182
49Craniofacial dystonia (HP:0012179)2.62545566
50Amblyopia (HP:0000646)2.58487233
51Delusions (HP:0000746)2.56551485
52Bradykinesia (HP:0002067)2.55789864
53Peripheral hypomyelination (HP:0007182)2.54941700
54Hemiparesis (HP:0001269)2.47682553
55Abnormality of ocular smooth pursuit (HP:0000617)2.44283505
56Neurofibrillary tangles (HP:0002185)2.43631545
57Dysmetric saccades (HP:0000641)2.43215142
58Diplopia (HP:0000651)2.40997254
59Abnormality of binocular vision (HP:0011514)2.40997254
60Impaired vibratory sensation (HP:0002495)2.39443584
61Bundle branch block (HP:0011710)2.38531341
62Scanning speech (HP:0002168)2.36860711
63Obstructive sleep apnea (HP:0002870)2.36257881
64Ankyloglossia (HP:0010296)2.35776356
65Cerebral inclusion bodies (HP:0100314)2.34068472
66Excessive salivation (HP:0003781)2.30757308
67Drooling (HP:0002307)2.30757308
68Lower limb muscle weakness (HP:0007340)2.26621401
69Progressive inability to walk (HP:0002505)2.25738992
70Resting tremor (HP:0002322)2.23878753
71Spastic tetraparesis (HP:0001285)2.21298800
72Turricephaly (HP:0000262)2.17968363
73Lower limb amyotrophy (HP:0007210)2.17433820
74Clonus (HP:0002169)2.16259284
75Hyperventilation (HP:0002883)2.13656358
76Termporal pattern (HP:0011008)2.13025341
77Insidious onset (HP:0003587)2.13025341
78Bronchomalacia (HP:0002780)2.10518294
79Aplasia involving bones of the upper limbs (HP:0009823)2.08926506
80Aplasia of the phalanges of the hand (HP:0009802)2.08926506
81Aplasia involving bones of the extremities (HP:0009825)2.08926506
82Status epilepticus (HP:0002133)2.08021081
83Epileptiform EEG discharges (HP:0011182)2.07842913
84Amyotrophic lateral sclerosis (HP:0007354)2.06937995
85EEG with generalized epileptiform discharges (HP:0011198)2.06775234
86Apathy (HP:0000741)2.03990201
87Abnormality of the corticospinal tract (HP:0002492)2.03816901
88Upper limb amyotrophy (HP:0009129)2.03783688
89Distal upper limb amyotrophy (HP:0007149)2.03783688
90Hypsarrhythmia (HP:0002521)2.03749191
91Abnormal EKG (HP:0003115)2.03057105
92Fetal akinesia sequence (HP:0001989)2.02610358
93Hand muscle atrophy (HP:0009130)2.01759058
94Agitation (HP:0000713)1.96544035
95Lower limb asymmetry (HP:0100559)1.95162780
96Limb dystonia (HP:0002451)1.94985369
97Incomplete penetrance (HP:0003829)1.92450251
98Neuronal loss in central nervous system (HP:0002529)1.92063366
99Generalized myoclonic seizures (HP:0002123)1.91865200
100Inappropriate behavior (HP:0000719)1.88023547
101Choreoathetosis (HP:0001266)1.87712130
102Abnormality of the periventricular white matter (HP:0002518)1.86924198
103Abnormality of saccadic eye movements (HP:0000570)1.85664932
104Rigidity (HP:0002063)1.84604672
105Absent speech (HP:0001344)1.83936641
106Gait ataxia (HP:0002066)1.83052564
107Polyphagia (HP:0002591)1.82775873
108Hyperacusis (HP:0010780)1.82408721
109Rapidly progressive (HP:0003678)1.81731470
110Intellectual disability, profound (HP:0002187)1.81475496
111Central scotoma (HP:0000603)1.80825594
112Hammertoe (HP:0001765)1.80124934
113Tetraplegia (HP:0002445)1.78956575
114Diminished motivation (HP:0000745)1.78613725
115Morphological abnormality of the pyramidal tract (HP:0002062)1.78318680
116Mild short stature (HP:0003502)1.77118465
117Spinal canal stenosis (HP:0003416)1.76410750
118Prolonged QT interval (HP:0001657)1.74936477
119Macroorchidism (HP:0000053)1.73036712
120CNS hypomyelination (HP:0003429)1.72367562
121Shallow orbits (HP:0000586)1.71586277
122Dementia (HP:0000726)1.70680931
123Split foot (HP:0001839)1.70230282
124Memory impairment (HP:0002354)1.70001287

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.84126794
2MAP3K94.18650466
3NTRK34.10483721
4MARK13.22472784
5PRKD32.98135216
6DAPK22.96110860
7MINK12.70319347
8PAK62.58746427
9MAP3K42.50673719
10KSR22.49835195
11CAMKK12.40741519
12NTRK22.13687190
13NTRK11.94630695
14MAP2K71.86873750
15KSR11.69057280
16CDK51.65405551
17STK381.58676407
18CASK1.56950600
19TAOK11.56201744
20SIK21.55501244
21DAPK11.55500035
22MAP2K41.54058135
23RIPK41.52572990
24TYRO31.49503108
25MAP3K21.41226355
26PRPF4B1.36624537
27FES1.26942768
28MAP3K131.24377530
29ARAF1.19262637
30ALK1.18327368
31UHMK11.14609719
32TNIK1.13777561
33GRK51.13168533
34PRKCH1.13064086
35PRKCG1.11818701
36MAP3K121.10434205
37LATS21.09981606
38CAMK11.07223422
39PLK21.05006375
40STK111.04710465
41CDK191.03769770
42RIPK11.03758063
43MAPK131.01985850
44CAMKK21.01122716
45PHKG20.98598856
46PHKG10.98598856
47RET0.96531620
48CDK150.95027095
49PINK10.94582844
50CDK180.94233345
51MAPK120.91088355
52CDK140.88211720
53RAF10.88059757
54SGK2230.86572758
55SGK4940.86572758
56MARK20.84587577
57LMTK20.83373667
58CDK11A0.83300969
59NEK10.80440457
60SGK30.79578700
61PDK10.78529697
62PAK30.75135745
63CAMK2A0.74764884
64PDPK10.69756688
65PNCK0.69541309
66BRSK10.69313987
67SGK20.68749385
68SGK10.68171535
69MAP3K10.66260473
70PKN10.65384455
71SCYL20.63953684
72BRAF0.63822231
73MAP3K110.62299217
74PTK2B0.61702070
75TRIB30.59002908
76MAP3K70.57145168
77CAMK40.57055469
78DYRK1A0.56970030
79PRKCZ0.56525705
80ROCK20.55775995
81CSNK1G20.55528704
82TNK20.54838988
83MOS0.53915227
84CDC42BPA0.53453363
85CAMK2B0.53280854
86CAMK1G0.52779398
87* RPS6KA30.51926000
88DMPK0.51912741
89LIMK10.51375077
90DAPK30.50297742
91TESK10.48503905
92MAPK100.47119640
93NEK60.46921539
94DDR20.44815299
95PDGFRA0.44271744
96* FYN0.43389763
97MAP2K10.39135752
98BMPR20.37563758
99ICK0.37395926
100FGFR20.36234078
101WNK10.35517021
102RPS6KA20.35375663
103CAMK2D0.35181277
104CAMK1D0.34599502
105ROCK10.33198465
106OXSR10.32617696
107PRKD20.32403612
108BMX0.32400748
109PRKCB0.32170376
110PRKG20.30855529
111MAPK80.29141015
112PRKCE0.29071800
113CAMK2G0.28423909
114TAOK20.27736924
115EEF2K0.25585289
116IRAK20.25547770

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.13911753
2Nicotine addiction_Homo sapiens_hsa050333.05452869
3Olfactory transduction_Homo sapiens_hsa047403.02309280
4Circadian entrainment_Homo sapiens_hsa047132.66197793
5GABAergic synapse_Homo sapiens_hsa047272.59816998
6Long-term potentiation_Homo sapiens_hsa047202.56843291
7* Glutamatergic synapse_Homo sapiens_hsa047242.42728758
8Morphine addiction_Homo sapiens_hsa050322.41367853
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.37079244
10Amphetamine addiction_Homo sapiens_hsa050312.36080968
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.27592048
12Dopaminergic synapse_Homo sapiens_hsa047282.12318371
13Salivary secretion_Homo sapiens_hsa049702.10180348
14Cholinergic synapse_Homo sapiens_hsa047252.02344886
15Insulin secretion_Homo sapiens_hsa049111.99722134
16Gastric acid secretion_Homo sapiens_hsa049711.96063706
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.94779495
18Nitrogen metabolism_Homo sapiens_hsa009101.92913527
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76793092
20Oxytocin signaling pathway_Homo sapiens_hsa049211.69049707
21Renin secretion_Homo sapiens_hsa049241.58350648
22Long-term depression_Homo sapiens_hsa047301.51402957
23GnRH signaling pathway_Homo sapiens_hsa049121.50722887
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.49156106
25Calcium signaling pathway_Homo sapiens_hsa040201.48668625
26* Cocaine addiction_Homo sapiens_hsa050301.48184551
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43516597
28Gap junction_Homo sapiens_hsa045401.37614788
29Serotonergic synapse_Homo sapiens_hsa047261.36568739
30Vitamin B6 metabolism_Homo sapiens_hsa007501.36548589
31Taste transduction_Homo sapiens_hsa047421.36448182
32Glioma_Homo sapiens_hsa052141.34754304
33Type II diabetes mellitus_Homo sapiens_hsa049301.32429088
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31224847
35cAMP signaling pathway_Homo sapiens_hsa040241.29343027
36Phototransduction_Homo sapiens_hsa047441.26701435
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.21794359
38Estrogen signaling pathway_Homo sapiens_hsa049151.20424365
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16634487
40ErbB signaling pathway_Homo sapiens_hsa040121.09719694
41Melanogenesis_Homo sapiens_hsa049161.06509582
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05369443
43Axon guidance_Homo sapiens_hsa043601.05075054
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.02792477
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.97235604
46Oocyte meiosis_Homo sapiens_hsa041140.92088160
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.90310769
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.89965898
49Dorso-ventral axis formation_Homo sapiens_hsa043200.89718378
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84790567
51Pancreatic secretion_Homo sapiens_hsa049720.81369642
52Neurotrophin signaling pathway_Homo sapiens_hsa047220.81242699
53Thyroid hormone synthesis_Homo sapiens_hsa049180.80848677
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79742259
55Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78064062
56Collecting duct acid secretion_Homo sapiens_hsa049660.77795407
57VEGF signaling pathway_Homo sapiens_hsa043700.77638600
58Dilated cardiomyopathy_Homo sapiens_hsa054140.77627484
59Choline metabolism in cancer_Homo sapiens_hsa052310.74860170
60mTOR signaling pathway_Homo sapiens_hsa041500.74782509
61MAPK signaling pathway_Homo sapiens_hsa040100.72626674
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.72277201
63Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.68661889
64Non-small cell lung cancer_Homo sapiens_hsa052230.67483588
65Rap1 signaling pathway_Homo sapiens_hsa040150.66058887
66Cardiac muscle contraction_Homo sapiens_hsa042600.65520420
67Endocytosis_Homo sapiens_hsa041440.65059152
68Endometrial cancer_Homo sapiens_hsa052130.64709454
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.60674525
70Bile secretion_Homo sapiens_hsa049760.60646581
71Ras signaling pathway_Homo sapiens_hsa040140.59417108
72Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.58891507
73Glucagon signaling pathway_Homo sapiens_hsa049220.58616061
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.57925308
75Type I diabetes mellitus_Homo sapiens_hsa049400.55084202
76Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55016279
77Alcoholism_Homo sapiens_hsa050340.54661676
78Vibrio cholerae infection_Homo sapiens_hsa051100.53358866
79Renal cell carcinoma_Homo sapiens_hsa052110.52666113
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52624125
81Chemokine signaling pathway_Homo sapiens_hsa040620.49458875
82Inositol phosphate metabolism_Homo sapiens_hsa005620.48902352
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47858704
84Insulin signaling pathway_Homo sapiens_hsa049100.47556595
85Prion diseases_Homo sapiens_hsa050200.47219520
86Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47044913
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46901824
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45786280
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45528472
90Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.44382274
91Wnt signaling pathway_Homo sapiens_hsa043100.42154104
92Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.41769781
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40470407
94Circadian rhythm_Homo sapiens_hsa047100.40252790
95Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38266109
96Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.37565699
97HIF-1 signaling pathway_Homo sapiens_hsa040660.35535916
98Ovarian steroidogenesis_Homo sapiens_hsa049130.34943580
99Platelet activation_Homo sapiens_hsa046110.34352053
100Central carbon metabolism in cancer_Homo sapiens_hsa052300.33962203
101Colorectal cancer_Homo sapiens_hsa052100.33820536
102AMPK signaling pathway_Homo sapiens_hsa041520.33484510
103Prolactin signaling pathway_Homo sapiens_hsa049170.32368941
104Tight junction_Homo sapiens_hsa045300.31908293
105Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.31151973
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30843789
107AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.29807197
108Amoebiasis_Homo sapiens_hsa051460.29721709
109Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29049014
110Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28332400
111Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.28291086

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