ADAM11

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 ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.12390627
2locomotory exploration behavior (GO:0035641)5.80378964
3synaptic vesicle maturation (GO:0016188)5.75711968
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.49835812
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.42381925
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.11003782
7vocalization behavior (GO:0071625)5.07077533
8synaptic vesicle exocytosis (GO:0016079)5.05395356
9neuronal action potential propagation (GO:0019227)4.96318773
10ionotropic glutamate receptor signaling pathway (GO:0035235)4.91702843
11regulation of synaptic vesicle exocytosis (GO:2000300)4.90099854
12glutamate secretion (GO:0014047)4.89852354
13regulation of glutamate receptor signaling pathway (GO:1900449)4.60679312
14synaptic vesicle docking involved in exocytosis (GO:0016081)4.55107934
15neurotransmitter secretion (GO:0007269)4.53607714
16response to pheromone (GO:0019236)4.50777059
17regulation of synaptic vesicle transport (GO:1902803)4.48511052
18synaptic transmission, glutamatergic (GO:0035249)4.44324881
19gamma-aminobutyric acid transport (GO:0015812)4.41274875
20cellular potassium ion homeostasis (GO:0030007)4.38954072
21regulation of neuronal synaptic plasticity (GO:0048168)4.36760839
22glutamate receptor signaling pathway (GO:0007215)4.36501383
23regulation of voltage-gated calcium channel activity (GO:1901385)4.35157586
24exploration behavior (GO:0035640)4.28859125
25membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.28463459
26protein localization to synapse (GO:0035418)4.23827561
27regulation of long-term neuronal synaptic plasticity (GO:0048169)4.20952900
28sodium ion export (GO:0071436)4.17214772
29amino acid import (GO:0043090)4.14062592
30cerebellar Purkinje cell differentiation (GO:0021702)4.06505198
31regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.05479390
32long-term memory (GO:0007616)4.03168704
33dendritic spine morphogenesis (GO:0060997)3.98860380
34neuron-neuron synaptic transmission (GO:0007270)3.94801098
35cerebellar granule cell differentiation (GO:0021707)3.90224145
36regulation of synapse structural plasticity (GO:0051823)3.87976272
37negative regulation of dendrite morphogenesis (GO:0050774)3.85064582
38axon ensheathment in central nervous system (GO:0032291)3.83866360
39central nervous system myelination (GO:0022010)3.83866360
40membrane depolarization during action potential (GO:0086010)3.83027760
41positive regulation of dendritic spine morphogenesis (GO:0061003)3.80514450
42cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.80244705
43neurotransmitter-gated ion channel clustering (GO:0072578)3.78089374
44neuron cell-cell adhesion (GO:0007158)3.77302239
45cell communication by electrical coupling (GO:0010644)3.75971344
46positive regulation of synapse maturation (GO:0090129)3.74856856
47regulation of excitatory postsynaptic membrane potential (GO:0060079)3.73200285
48positive regulation of neurotransmitter transport (GO:0051590)3.72216950
49positive regulation of neurotransmitter secretion (GO:0001956)3.71581002
50layer formation in cerebral cortex (GO:0021819)3.70534693
51positive regulation of membrane potential (GO:0045838)3.67376101
52neuromuscular process controlling posture (GO:0050884)3.67323584
53neurotransmitter transport (GO:0006836)3.66507038
54cytoskeletal anchoring at plasma membrane (GO:0007016)3.65026389
55regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.61572160
56proline transport (GO:0015824)3.60004158
57G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.57485017
58gamma-aminobutyric acid signaling pathway (GO:0007214)3.53642213
59regulation of postsynaptic membrane potential (GO:0060078)3.51867233
60neuromuscular process controlling balance (GO:0050885)3.50099674
61positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.48694618
62regulation of neurotransmitter levels (GO:0001505)3.40901570
63synaptic vesicle endocytosis (GO:0048488)3.40415971
64membrane depolarization (GO:0051899)3.37530234
65regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.35917484
66regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.35643166
67regulation of synaptic plasticity (GO:0048167)3.35380261
68regulation of dendritic spine development (GO:0060998)3.33914913
69regulation of neurotransmitter secretion (GO:0046928)3.33565251
70transmission of nerve impulse (GO:0019226)3.30708676
71neuron recognition (GO:0008038)3.26322341
72glycine transport (GO:0015816)3.23265223
73G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.22323756
74positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.19748339
75axonal fasciculation (GO:0007413)3.17828116
76cell differentiation in hindbrain (GO:0021533)3.16579655
77establishment of nucleus localization (GO:0040023)3.16577516
78positive regulation of potassium ion transmembrane transport (GO:1901381)3.15665767
79cellular sodium ion homeostasis (GO:0006883)3.12850061
80membrane hyperpolarization (GO:0060081)3.11903708
81dendrite morphogenesis (GO:0048813)3.11513930
82vesicle docking involved in exocytosis (GO:0006904)3.10612469
83regulation of vesicle fusion (GO:0031338)3.10387995
84negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.10276621
85regulation of synaptic transmission, glutamatergic (GO:0051966)3.09793412
86positive regulation of dendrite development (GO:1900006)3.07725426
87chemosensory behavior (GO:0007635)3.07057454
88synaptic vesicle transport (GO:0048489)3.06370465
89establishment of synaptic vesicle localization (GO:0097480)3.06370465
90detection of calcium ion (GO:0005513)3.06060465
91potassium ion homeostasis (GO:0055075)3.05460564
92potassium ion import (GO:0010107)3.05305284
93neuromuscular synaptic transmission (GO:0007274)3.04956804
94activation of protein kinase A activity (GO:0034199)3.03916660
95cerebellar Purkinje cell layer development (GO:0021680)3.03399919
96regulation of dendritic spine morphogenesis (GO:0061001)3.02378936
97auditory behavior (GO:0031223)3.02357698
98innervation (GO:0060384)3.02132960
99negative regulation of synaptic transmission, GABAergic (GO:0032229)3.01919044
100long-term synaptic potentiation (GO:0060291)3.01433380
101neurotransmitter uptake (GO:0001504)3.00681893
102regulation of neurotransmitter transport (GO:0051588)3.00296786
103positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.98047447
104regulation of ARF protein signal transduction (GO:0032012)2.97686530
105regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.96915531
106neuronal ion channel clustering (GO:0045161)2.96125332
107adult walking behavior (GO:0007628)2.94355379
108postsynaptic membrane organization (GO:0001941)2.92857151
109L-amino acid import (GO:0043092)2.92398431
110neuromuscular process (GO:0050905)2.89958108
111regulation of synapse maturation (GO:0090128)2.89410642
112prepulse inhibition (GO:0060134)2.88473205
113response to auditory stimulus (GO:0010996)2.88176397
114synaptic transmission (GO:0007268)2.87602894
115cell communication involved in cardiac conduction (GO:0086065)2.86989556
116regulation of synaptic transmission (GO:0050804)2.85927354
117dendritic spine organization (GO:0097061)2.85779779
118positive regulation of dendritic spine development (GO:0060999)2.85533558
119cell migration in hindbrain (GO:0021535)2.84334467
120acidic amino acid transport (GO:0015800)2.83743632

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.59241609
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.08504428
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.06182939
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.06015420
5GBX2_23144817_ChIP-Seq_PC3_Human2.93260758
6* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.83681789
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.83681789
8DROSHA_22980978_ChIP-Seq_HELA_Human2.80094954
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.72317781
10REST_21632747_ChIP-Seq_MESCs_Mouse2.64615530
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.59776727
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56603798
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54909990
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52998741
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.41789425
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.40846635
17* EZH2_27294783_Chip-Seq_ESCs_Mouse2.38893548
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.36753959
19RARB_27405468_Chip-Seq_BRAIN_Mouse2.31659542
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.30933751
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.30926821
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.21756468
23* REST_18959480_ChIP-ChIP_MESCs_Mouse2.19293767
24* RNF2_27304074_Chip-Seq_ESCs_Mouse2.18915080
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.18757130
26* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.08845738
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.06875330
28AR_21572438_ChIP-Seq_LNCaP_Human1.88279472
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.77905499
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.65930380
31* LXR_22292898_ChIP-Seq_THP-1_Human1.65481588
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54815139
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.54540708
34* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.52585971
35SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.50187335
36PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.49943133
37SMAD4_21799915_ChIP-Seq_A2780_Human1.48771019
38ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.47510040
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38777815
40RING1B_27294783_Chip-Seq_ESCs_Mouse1.36968750
41CTBP2_25329375_ChIP-Seq_LNCAP_Human1.32947261
42DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31710154
43GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30837651
44RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.30551871
45ZNF274_21170338_ChIP-Seq_K562_Hela1.28173083
46RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.26395259
47* KDM2B_26808549_Chip-Seq_K562_Human1.26227879
48SRY_22984422_ChIP-ChIP_TESTIS_Rat1.24788514
49CTBP1_25329375_ChIP-Seq_LNCAP_Human1.23169490
50AR_19668381_ChIP-Seq_PC3_Human1.22415821
51SMC4_20622854_ChIP-Seq_HELA_Human1.21851250
52THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.20586551
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19374723
54RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.19232800
55SOX2_21211035_ChIP-Seq_LN229_Gbm1.19064968
56TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.18430022
57TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.17286668
58WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16266475
59GATA1_26923725_Chip-Seq_HPCs_Mouse1.15159657
60SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14601083
61* KDM2B_26808549_Chip-Seq_DND41_Human1.14071589
62TAF15_26573619_Chip-Seq_HEK293_Human1.14056776
63ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13556994
64* RING1B_27294783_Chip-Seq_NPCs_Mouse1.13236196
65AR_25329375_ChIP-Seq_VCAP_Human1.12419873
66* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.11975632
67OCT4_19829295_ChIP-Seq_ESCs_Human1.11959674
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.11175087
69CBX2_27304074_Chip-Seq_ESCs_Mouse1.11075749
70CREB1_26743006_Chip-Seq_LNCaP_Human1.09735217
71TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09484681
72ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.09106968
73SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.08466961
74P68_20966046_ChIP-Seq_HELA_Human1.07901522
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07799584
76ESR2_21235772_ChIP-Seq_MCF-7_Human1.06459129
77STAT3_23295773_ChIP-Seq_U87_Human1.05052164
78DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.04993193
79SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.04730114
80* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04156235
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.04151237
82P300_19829295_ChIP-Seq_ESCs_Human1.04144684
83* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03374030
84PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.02973137
85VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02884522
86SMAD_19615063_ChIP-ChIP_OVARY_Human1.01161154
87DPY_21335234_ChIP-Seq_ESCs_Mouse1.00116074
88SMAD3_21741376_ChIP-Seq_EPCs_Human0.99853040
89TET1_21451524_ChIP-Seq_MESCs_Mouse0.99704478
90SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99344342
91* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98101571
92TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97836854
93KDM2B_26808549_Chip-Seq_JURKAT_Human0.97371349
94ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96786091
95* SMAD4_21741376_ChIP-Seq_HESCs_Human0.95565276
96* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.95418587
97TCF4_23295773_ChIP-Seq_U87_Human0.94853066
98CTCF_27219007_Chip-Seq_Bcells_Human0.93756955
99TP53_20018659_ChIP-ChIP_R1E_Mouse0.92868365
100MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92799504
101TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92713929
102CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.92711564
103RNF2_27304074_Chip-Seq_NSC_Mouse0.92471136
104CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92361756
105P53_22127205_ChIP-Seq_FIBROBLAST_Human0.92188072
106KLF4_19829295_ChIP-Seq_ESCs_Human0.92110554
107EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.92046747
108YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91847540
109OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91578302
110SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89783601
111TOP2B_26459242_ChIP-Seq_MCF-7_Human0.89644896
112OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89003210
113MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.88745372
114* TET1_21490601_ChIP-Seq_MESCs_Mouse0.88631285
115PIAS1_25552417_ChIP-Seq_VCAP_Human0.88370971
116ARNT_22903824_ChIP-Seq_MCF-7_Human0.87610063
117PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.87202736
118SMAD3_21741376_ChIP-Seq_HESCs_Human0.86811073
119RUNX1_26923725_Chip-Seq_HPCs_Mouse0.84862482
120AHR_22903824_ChIP-Seq_MCF-7_Human0.84299570
121RXR_22108803_ChIP-Seq_LS180_Human0.83356308
122TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83244930
123POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.83244930
124PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.82973987
125NR3C1_21868756_ChIP-Seq_MCF10A_Human0.82693039
126TP53_23651856_ChIP-Seq_MEFs_Mouse0.82469819
127IGF1R_20145208_ChIP-Seq_DFB_Human0.82323695
128SMAD3_21741376_ChIP-Seq_ESCs_Human0.82175941
129TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.81530750
130SMAD4_21741376_ChIP-Seq_ESCs_Human0.81347568
131CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80556906
132ZFP281_27345836_Chip-Seq_ESCs_Mouse0.80355827
133SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.79320816
134KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.78246159
135PRDM14_20953172_ChIP-Seq_ESCs_Human0.77702861
136TRIM28_21343339_ChIP-Seq_HEK293_Human0.77666182
137SA1_27219007_Chip-Seq_ERYTHROID_Human0.77640529
138NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.77512930
139CTNNB1_20460455_ChIP-Seq_HCT116_Human0.76864200
140CTCF_27219007_Chip-Seq_ERYTHROID_Human0.76473860
141GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.76289191

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.67753561
2MP0003880_abnormal_central_pattern4.80997331
3MP0003635_abnormal_synaptic_transmissio4.14937327
4MP0004270_analgesia3.56368519
5MP0009046_muscle_twitch3.55147551
6MP0009745_abnormal_behavioral_response3.29862796
7MP0001968_abnormal_touch/_nociception3.19840502
8MP0002064_seizures3.19459446
9* MP0002063_abnormal_learning/memory/cond3.18191480
10MP0002272_abnormal_nervous_system2.84082833
11MP0002735_abnormal_chemical_nociception2.78000326
12MP0002734_abnormal_mechanical_nocicepti2.76090281
13MP0005423_abnormal_somatic_nervous2.74991457
14MP0002572_abnormal_emotion/affect_behav2.65424484
15MP0001486_abnormal_startle_reflex2.58514235
16MP0002736_abnormal_nociception_after2.51086675
17MP0001501_abnormal_sleep_pattern2.24944268
18MP0008569_lethality_at_weaning2.22056852
19MP0002067_abnormal_sensory_capabilities2.16598117
20MP0002733_abnormal_thermal_nociception2.12434853
21MP0001440_abnormal_grooming_behavior2.10251876
22MP0003329_amyloid_beta_deposits2.09202586
23MP0001970_abnormal_pain_threshold2.07301294
24MP0001984_abnormal_olfaction2.01026994
25MP0002184_abnormal_innervation2.00618191
26MP0004858_abnormal_nervous_system1.94997442
27MP0006276_abnormal_autonomic_nervous1.90401516
28MP0002822_catalepsy1.78287783
29MP0004811_abnormal_neuron_physiology1.74243448
30MP0004145_abnormal_muscle_electrophysio1.70403157
31MP0002557_abnormal_social/conspecific_i1.68192226
32MP0000778_abnormal_nervous_system1.67177359
33MP0001502_abnormal_circadian_rhythm1.61731218
34MP0000955_abnormal_spinal_cord1.61618899
35MP0003123_paternal_imprinting1.58068291
36MP0003879_abnormal_hair_cell1.57027811
37MP0005645_abnormal_hypothalamus_physiol1.55439799
38MP0004142_abnormal_muscle_tone1.55402015
39MP0005386_behavior/neurological_phenoty1.54804574
40MP0004924_abnormal_behavior1.54804574
41MP0002909_abnormal_adrenal_gland1.49441263
42MP0004885_abnormal_endolymph1.48388963
43* MP0002066_abnormal_motor_capabilities/c1.44751565
44MP0003633_abnormal_nervous_system1.44222036
45MP0001346_abnormal_lacrimal_gland1.43797985
46MP0002882_abnormal_neuron_morphology1.41059976
47MP0005646_abnormal_pituitary_gland1.37695914
48MP0005623_abnormal_meninges_morphology1.37517859
49MP0009780_abnormal_chondrocyte_physiolo1.35737608
50MP0008872_abnormal_physiological_respon1.34308270
51MP0003122_maternal_imprinting1.27142684
52MP0003631_nervous_system_phenotype1.24062349
53MP0002837_dystrophic_cardiac_calcinosis1.15982172
54MP0004742_abnormal_vestibular_system1.15381995
55MP0000604_amyloidosis1.08985230
56MP0002152_abnormal_brain_morphology1.02185336
57MP0003787_abnormal_imprinting1.02090755
58MP0002069_abnormal_eating/drinking_beha1.01446928
59MP0002229_neurodegeneration1.01353856
60MP0005551_abnormal_eye_electrophysiolog1.00997715
61MP0002249_abnormal_larynx_morphology1.00759878
62MP0003632_abnormal_nervous_system0.99731627
63MP0000920_abnormal_myelination0.98010801
64MP0000751_myopathy0.97968998
65MP0008874_decreased_physiological_sensi0.97827495
66MP0002876_abnormal_thyroid_physiology0.95869555
67MP0003690_abnormal_glial_cell0.93958804
68MP0004510_myositis0.91918266
69MP0001188_hyperpigmentation0.87948016
70MP0000579_abnormal_nail_morphology0.87342110
71MP0008961_abnormal_basal_metabolism0.87096845
72MP0003137_abnormal_impulse_conducting0.86727446
73MP0005535_abnormal_body_temperature0.83743634
74MP0005409_darkened_coat_color0.83246431
75MP0004215_abnormal_myocardial_fiber0.81734600
76MP0004085_abnormal_heartbeat0.81426448
77MP0003283_abnormal_digestive_organ0.80798432
78MP0003075_altered_response_to0.79693120
79MP0001177_atelectasis0.77627133
80MP0000569_abnormal_digit_pigmentation0.77388205
81MP0001963_abnormal_hearing_physiology0.76162164
82MP0001905_abnormal_dopamine_level0.76151914
83MP0002752_abnormal_somatic_nervous0.74924483
84MP0003634_abnormal_glial_cell0.74151118
85MP0004130_abnormal_muscle_cell0.73205074
86MP0003172_abnormal_lysosome_physiology0.69004805
87MP0010386_abnormal_urinary_bladder0.67111659
88MP0005499_abnormal_olfactory_system0.64825132
89MP0005394_taste/olfaction_phenotype0.64825132
90MP0003861_abnormal_nervous_system0.62758890
91MP0002089_abnormal_postnatal_growth/wei0.60522657
92MP0001299_abnormal_eye_distance/0.59227229
93MP0001348_abnormal_lacrimal_gland0.58170409
94MP0004484_altered_response_of0.57418572
95MP0002638_abnormal_pupillary_reflex0.55027026
96MP0010769_abnormal_survival0.54903153
97MP0001529_abnormal_vocalization0.54130761
98MP0002090_abnormal_vision0.53581956
99MP0005167_abnormal_blood-brain_barrier0.53313257
100MP0002082_postnatal_lethality0.52741076
101MP0010770_preweaning_lethality0.52741076
102MP0004147_increased_porphyrin_level0.52256416
103MP0002234_abnormal_pharynx_morphology0.51543540
104MP0005083_abnormal_biliary_tract0.50955401
105MP0010768_mortality/aging0.50947800
106MP0000747_muscle_weakness0.49653995
107MP0001485_abnormal_pinna_reflex0.49275319
108MP0003956_abnormal_body_size0.49183845
109MP0004043_abnormal_pH_regulation0.48883732
110MP0001943_abnormal_respiration0.48073259
111MP0003938_abnormal_ear_development0.47955035
112MP0001664_abnormal_digestion0.47757681
113MP0001986_abnormal_taste_sensitivity0.47075660
114MP0002873_normal_phenotype0.46120073
115MP0002169_no_abnormal_phenotype0.44548545
116MP0000566_synostosis0.43937987

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.42191379
2Myokymia (HP:0002411)7.29209298
3Focal seizures (HP:0007359)6.13928975
4Progressive cerebellar ataxia (HP:0002073)5.34246717
5Visual hallucinations (HP:0002367)5.25377847
6Action tremor (HP:0002345)5.23759471
7Febrile seizures (HP:0002373)5.03845159
8Epileptic encephalopathy (HP:0200134)4.51370331
9Atonic seizures (HP:0010819)4.39354365
10Supranuclear gaze palsy (HP:0000605)4.10027210
11Absence seizures (HP:0002121)3.83842167
12Gaze-evoked nystagmus (HP:0000640)3.81400036
13Generalized tonic-clonic seizures (HP:0002069)3.76350277
14Obstructive sleep apnea (HP:0002870)3.65919748
15Broad-based gait (HP:0002136)3.62731207
16Dialeptic seizures (HP:0011146)3.52239011
17Ventricular fibrillation (HP:0001663)3.48427180
18Abnormal eating behavior (HP:0100738)3.46750886
19Dysdiadochokinesis (HP:0002075)3.46612312
20Cerebral hypomyelination (HP:0006808)3.46469065
21Abnormality of the lower motor neuron (HP:0002366)3.44722503
22Poor eye contact (HP:0000817)3.41919734
23Dysmetria (HP:0001310)3.40694319
24Hemiplegia (HP:0002301)3.34031249
25Scanning speech (HP:0002168)3.32590853
26Ankle clonus (HP:0011448)3.27950324
27Abnormal social behavior (HP:0012433)3.20809851
28Impaired social interactions (HP:0000735)3.20809851
29Intention tremor (HP:0002080)3.20046574
30Impaired vibration sensation in the lower limbs (HP:0002166)3.16805810
31Depression (HP:0000716)3.11630427
32Spastic gait (HP:0002064)3.01622986
33Truncal ataxia (HP:0002078)3.00210541
34Postural instability (HP:0002172)2.98719553
35Genetic anticipation (HP:0003743)2.97548748
36Impaired smooth pursuit (HP:0007772)2.94563340
37Hyperventilation (HP:0002883)2.94159726
38Hemiparesis (HP:0001269)2.93980467
39Delusions (HP:0000746)2.89671978
40Dysmetric saccades (HP:0000641)2.84989455
41Mutism (HP:0002300)2.82655886
42Abnormality of binocular vision (HP:0011514)2.81233452
43Diplopia (HP:0000651)2.81233452
44Status epilepticus (HP:0002133)2.79734289
45Anxiety (HP:0000739)2.77434242
46Akinesia (HP:0002304)2.75753550
47Urinary bladder sphincter dysfunction (HP:0002839)2.73724313
48Polyphagia (HP:0002591)2.67517612
49Abnormality of ocular smooth pursuit (HP:0000617)2.65933472
50Insomnia (HP:0100785)2.64735701
51Torticollis (HP:0000473)2.64323306
52Neurofibrillary tangles (HP:0002185)2.54394896
53Urinary urgency (HP:0000012)2.53856293
54Annular pancreas (HP:0001734)2.53788487
55Apathy (HP:0000741)2.51810109
56Focal dystonia (HP:0004373)2.49065123
57Stereotypic behavior (HP:0000733)2.44063105
58Failure to thrive in infancy (HP:0001531)2.41443921
59Amblyopia (HP:0000646)2.40572509
60Fetal akinesia sequence (HP:0001989)2.36877158
61Spastic tetraparesis (HP:0001285)2.35612827
62Pointed chin (HP:0000307)2.35196470
63Pheochromocytoma (HP:0002666)2.30372494
64Bradykinesia (HP:0002067)2.29932702
65Rigidity (HP:0002063)2.28146168
66Peripheral hypomyelination (HP:0007182)2.27581464
67Heart block (HP:0012722)2.25807109
68Choreoathetosis (HP:0001266)2.25083444
69Cerebral inclusion bodies (HP:0100314)2.24576523
70Diminished motivation (HP:0000745)2.24399440
71Abnormality of saccadic eye movements (HP:0000570)2.24095688
72Epileptiform EEG discharges (HP:0011182)2.20353140
73Bundle branch block (HP:0011710)2.19845480
74Excessive salivation (HP:0003781)2.18125012
75Drooling (HP:0002307)2.18125012
76Craniofacial dystonia (HP:0012179)2.17558402
77Abnormality of the corticospinal tract (HP:0002492)2.15468177
78Impaired vibratory sensation (HP:0002495)2.14371499
79Rapidly progressive (HP:0003678)2.13984768
80EEG with generalized epileptiform discharges (HP:0011198)2.13433377
81Gait ataxia (HP:0002066)2.12941879
82Lower limb amyotrophy (HP:0007210)2.12933227
83Sudden death (HP:0001699)2.11290686
84Abnormal atrioventricular conduction (HP:0005150)2.08139471
85Lower limb muscle weakness (HP:0007340)2.06920302
86Tetraplegia (HP:0002445)2.06706085
87Abnormal EKG (HP:0003115)2.04341769
88CNS hypomyelination (HP:0003429)2.03683810
89Clonus (HP:0002169)2.03522473
90Hypsarrhythmia (HP:0002521)2.03332515
91Incomplete penetrance (HP:0003829)1.99182629
92Progressive inability to walk (HP:0002505)1.98137551
93Aplasia involving bones of the extremities (HP:0009825)1.97080249
94Aplasia involving bones of the upper limbs (HP:0009823)1.97080249
95Aplasia of the phalanges of the hand (HP:0009802)1.97080249
96Postural tremor (HP:0002174)1.96737669
97Neuroendocrine neoplasm (HP:0100634)1.96073633
98Atrioventricular block (HP:0001678)1.95556184
99Psychosis (HP:0000709)1.95253637
100Turricephaly (HP:0000262)1.94636202
101Absent speech (HP:0001344)1.94543951
102Specific learning disability (HP:0001328)1.94522355
103Generalized hypotonia (HP:0001290)1.93315604
104Syncope (HP:0001279)1.92419974
105Spinal canal stenosis (HP:0003416)1.91927634
106Esotropia (HP:0000565)1.91800468
107Morphological abnormality of the pyramidal tract (HP:0002062)1.91783401
108Horizontal nystagmus (HP:0000666)1.88678921
109Papilledema (HP:0001085)1.88248146
110Upper limb amyotrophy (HP:0009129)1.87632028
111Distal upper limb amyotrophy (HP:0007149)1.87632028
112Termporal pattern (HP:0011008)1.86874539
113Insidious onset (HP:0003587)1.86874539
114Prolonged QT interval (HP:0001657)1.86302316
115Neuronal loss in central nervous system (HP:0002529)1.85948303
116Anosmia (HP:0000458)1.84623203
117Sleep apnea (HP:0010535)1.83712998
118Hyperacusis (HP:0010780)1.83212970
119Agitation (HP:0000713)1.82447601
120Amyotrophic lateral sclerosis (HP:0007354)1.81398827
121Hand muscle atrophy (HP:0009130)1.81341559
122Primary atrial arrhythmia (HP:0001692)1.80570982
123Supraventricular tachycardia (HP:0004755)1.80419584
124Nuclear cataract (HP:0100018)1.80247332
125Lower limb asymmetry (HP:0100559)1.78528151
126Limb dystonia (HP:0002451)1.78175127
127Limb ataxia (HP:0002070)1.77593575
128Resting tremor (HP:0002322)1.75226533

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.65299910
2EPHA43.45841802
3MAP3K93.43783545
4PAK63.08341754
5MINK12.67290668
6MARK12.65548620
7MAP3K42.59034601
8DAPK22.43705268
9MAP2K72.16632201
10CAMKK12.16449895
11CAMKK21.92635180
12KSR21.88885624
13NTRK21.88413741
14MAP2K41.87607823
15PRKD31.85275479
16KSR11.79992229
17STK381.74944146
18RIPK41.73922264
19NTRK11.64726619
20UHMK11.62991281
21CDK51.55888154
22CDK191.50518352
23PRPF4B1.49044175
24PHKG11.48650718
25PHKG21.48650718
26TNIK1.48605518
27MAP3K131.40457452
28CAMK11.37991483
29RIPK11.37304503
30GRK51.30774187
31LMTK21.28723254
32MAP3K121.27914231
33PRKCG1.26900327
34SIK21.24883970
35MAPK131.24364389
36PAK31.14716291
37FES1.13766340
38DAPK11.13315863
39SGK4941.11708515
40SGK2231.11708515
41PINK11.11079999
42BRSK11.10716405
43CASK1.10056208
44MAP2K60.99848457
45CDK180.96130823
46CDK150.95336335
47WNK10.94451001
48CAMK1G0.92931352
49PLK20.92344487
50ARAF0.92298019
51MAP3K20.91649780
52CAMK2A0.90621285
53DYRK1A0.89942534
54TYRO30.89144134
55TRIB30.87755357
56STK110.87216823
57MAP3K70.86149408
58DAPK30.85546649
59SGK20.85224514
60CDK140.83628151
61RET0.83451287
62IRAK20.83435936
63CDK11A0.81880529
64PRKCH0.81125892
65PTK2B0.79544377
66BRAF0.78836566
67SGK30.77292579
68MAP3K110.77019135
69CAMK40.76878103
70OXSR10.71165775
71SGK10.69898008
72LATS20.68025764
73CAMK2G0.67881776
74CAMK2B0.67863210
75CDC42BPA0.67427404
76ALK0.67417861
77PNCK0.66765818
78SCYL20.65925172
79MARK20.65657633
80ICK0.63907930
81PDK10.63719174
82TAOK10.63251265
83LIMK10.62112858
84NEK60.61212750
85EEF2K0.59607019
86EPHB20.59309326
87PRKCZ0.58153122
88PDPK10.55553278
89ERBB20.54938784
90PKN10.54818743
91RPS6KA30.53926189
92TNK20.52734214
93SIK30.50926345
94FGFR20.50378759
95FYN0.50281612
96BMPR20.48396957
97MAP3K10.45973892
98CAMK1D0.45743003
99CAMK2D0.45566055
100FER0.45291971
101MAPK100.44940432
102RAF10.44228743
103PRKCE0.43520228
104TESK10.39491429
105DMPK0.38817143
106CSNK1G20.38322912
107MAP2K10.37899050
108PRKAA10.37123448
109PRKACG0.35591281
110ROCK20.34416353
111MAPK120.33359983
112PRKG10.33262920
113MAPK80.30988633
114ROCK10.29545442
115RPS6KA20.27569097
116PRKG20.26723442
117PRKCA0.26066605
118MAPKAPK50.25855942
119GSK3B0.24523715
120CSNK1E0.24442683

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.18024940
2Synaptic vesicle cycle_Homo sapiens_hsa047213.19799341
3Glutamatergic synapse_Homo sapiens_hsa047242.75069625
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.74442870
5Circadian entrainment_Homo sapiens_hsa047132.71201473
6GABAergic synapse_Homo sapiens_hsa047272.68001059
7Long-term potentiation_Homo sapiens_hsa047202.58150654
8Olfactory transduction_Homo sapiens_hsa047402.38600896
9Morphine addiction_Homo sapiens_hsa050322.37247046
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.20857258
11Amphetamine addiction_Homo sapiens_hsa050312.15973850
12Salivary secretion_Homo sapiens_hsa049702.10344799
13Taste transduction_Homo sapiens_hsa047421.90399861
14Insulin secretion_Homo sapiens_hsa049111.89378532
15Dopaminergic synapse_Homo sapiens_hsa047281.87010046
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.85243549
17Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.80172002
18Nitrogen metabolism_Homo sapiens_hsa009101.80035008
19Gastric acid secretion_Homo sapiens_hsa049711.78786374
20Cholinergic synapse_Homo sapiens_hsa047251.77177450
21Vitamin B6 metabolism_Homo sapiens_hsa007501.74797474
22Long-term depression_Homo sapiens_hsa047301.65576434
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64878039
24Calcium signaling pathway_Homo sapiens_hsa040201.56554973
25Oxytocin signaling pathway_Homo sapiens_hsa049211.52675459
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.49629577
27Serotonergic synapse_Homo sapiens_hsa047261.34920854
28Renin secretion_Homo sapiens_hsa049241.33408102
29Type II diabetes mellitus_Homo sapiens_hsa049301.33330775
30GnRH signaling pathway_Homo sapiens_hsa049121.32573577
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.30906638
32Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.29063546
33cAMP signaling pathway_Homo sapiens_hsa040241.28469462
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25319982
35Cocaine addiction_Homo sapiens_hsa050301.20754814
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20671328
37Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.08179238
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.07862758
39Gap junction_Homo sapiens_hsa045401.07353765
40Axon guidance_Homo sapiens_hsa043601.04861391
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.97168436
42Estrogen signaling pathway_Homo sapiens_hsa049150.96791594
43Cardiac muscle contraction_Homo sapiens_hsa042600.96729574
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96035250
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95503822
46Bile secretion_Homo sapiens_hsa049760.94831562
47Collecting duct acid secretion_Homo sapiens_hsa049660.91861342
48ErbB signaling pathway_Homo sapiens_hsa040120.91272448
49Pancreatic secretion_Homo sapiens_hsa049720.88625393
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.87490592
51Glioma_Homo sapiens_hsa052140.87267533
52Melanogenesis_Homo sapiens_hsa049160.86348649
53Arginine biosynthesis_Homo sapiens_hsa002200.84025281
54Phospholipase D signaling pathway_Homo sapiens_hsa040720.80600975
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.77257753
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.73216205
57Thyroid hormone synthesis_Homo sapiens_hsa049180.73079934
58Dilated cardiomyopathy_Homo sapiens_hsa054140.71916229
59Dorso-ventral axis formation_Homo sapiens_hsa043200.70541275
60Choline metabolism in cancer_Homo sapiens_hsa052310.68950576
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.65465885
62MAPK signaling pathway_Homo sapiens_hsa040100.63610366
63VEGF signaling pathway_Homo sapiens_hsa043700.61927468
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58021120
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.55935904
66Glucagon signaling pathway_Homo sapiens_hsa049220.54482155
67Inositol phosphate metabolism_Homo sapiens_hsa005620.53520956
68Arginine and proline metabolism_Homo sapiens_hsa003300.53330395
69Circadian rhythm_Homo sapiens_hsa047100.53223093
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52750233
71Oocyte meiosis_Homo sapiens_hsa041140.52327446
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51499512
73Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.49250225
74Primary bile acid biosynthesis_Homo sapiens_hsa001200.46430300
75Rap1 signaling pathway_Homo sapiens_hsa040150.44822844
76Phototransduction_Homo sapiens_hsa047440.44616939
77Ras signaling pathway_Homo sapiens_hsa040140.42499100
78Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42129148
79Endocytosis_Homo sapiens_hsa041440.40175960
80mTOR signaling pathway_Homo sapiens_hsa041500.39893364
81Vibrio cholerae infection_Homo sapiens_hsa051100.39606514
82AMPK signaling pathway_Homo sapiens_hsa041520.38244485
83Butanoate metabolism_Homo sapiens_hsa006500.37256286
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.36333069
85Prion diseases_Homo sapiens_hsa050200.35891067
86Glycerophospholipid metabolism_Homo sapiens_hsa005640.35643513
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34640875
88Hippo signaling pathway_Homo sapiens_hsa043900.33991445
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33651123
90Tight junction_Homo sapiens_hsa045300.33157634
91Insulin signaling pathway_Homo sapiens_hsa049100.32403132
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31950007
93Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31422061
94HIF-1 signaling pathway_Homo sapiens_hsa040660.29659340
95Endometrial cancer_Homo sapiens_hsa052130.29553501
96Wnt signaling pathway_Homo sapiens_hsa043100.29008372
97Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.28485960
98Ovarian steroidogenesis_Homo sapiens_hsa049130.28338504
99Fatty acid biosynthesis_Homo sapiens_hsa000610.28125018
100Non-small cell lung cancer_Homo sapiens_hsa052230.27231152
101Chemokine signaling pathway_Homo sapiens_hsa040620.26864246
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.26640712
103African trypanosomiasis_Homo sapiens_hsa051430.26173844
104Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.26152759
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.26126587
106Alzheimers disease_Homo sapiens_hsa050100.25433601
107Central carbon metabolism in cancer_Homo sapiens_hsa052300.25067715
108Alcoholism_Homo sapiens_hsa050340.24243607
109Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.22095943
1102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.21556056

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