SPIRE1

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: Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.84486360
2locomotory exploration behavior (GO:0035641)5.78068499
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.77144960
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.32337555
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.19208621
6synaptic vesicle exocytosis (GO:0016079)5.06107350
7glutamate secretion (GO:0014047)5.03075291
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.96835654
9vocalization behavior (GO:0071625)4.92387690
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.75998407
11regulation of synaptic vesicle exocytosis (GO:2000300)4.68090890
12layer formation in cerebral cortex (GO:0021819)4.58425250
13regulation of glutamate receptor signaling pathway (GO:1900449)4.45581827
14neuronal action potential propagation (GO:0019227)4.40381043
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.40027369
16protein localization to synapse (GO:0035418)4.33291308
17exploration behavior (GO:0035640)4.20371961
18regulation of synaptic vesicle transport (GO:1902803)4.17158482
19regulation of long-term neuronal synaptic plasticity (GO:0048169)4.14383881
20cellular potassium ion homeostasis (GO:0030007)4.11738536
21neurotransmitter secretion (GO:0007269)4.11225957
22neuron cell-cell adhesion (GO:0007158)4.09994283
23regulation of neuronal synaptic plasticity (GO:0048168)4.05804985
24synaptic transmission, glutamatergic (GO:0035249)4.01231842
25sodium ion export (GO:0071436)4.00484106
26glutamate receptor signaling pathway (GO:0007215)4.00144872
27gamma-aminobutyric acid transport (GO:0015812)3.93691429
28regulation of synapse structural plasticity (GO:0051823)3.90249157
29neurotransmitter-gated ion channel clustering (GO:0072578)3.84597939
30proline transport (GO:0015824)3.80134324
31dendritic spine morphogenesis (GO:0060997)3.77328156
32long-term memory (GO:0007616)3.76810037
33L-amino acid import (GO:0043092)3.75026037
34regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.69383558
35neuron-neuron synaptic transmission (GO:0007270)3.69005335
36cerebellar Purkinje cell differentiation (GO:0021702)3.67348479
37cerebellar granule cell differentiation (GO:0021707)3.65605398
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.64430332
39dendrite morphogenesis (GO:0048813)3.54558064
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.44979924
41positive regulation of membrane potential (GO:0045838)3.42680259
42synaptic vesicle endocytosis (GO:0048488)3.42330346
43positive regulation of synapse maturation (GO:0090129)3.42131811
44neuromuscular process controlling balance (GO:0050885)3.41628656
45activation of protein kinase A activity (GO:0034199)3.38276064
46regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.36552192
47regulation of dendritic spine morphogenesis (GO:0061001)3.35441015
48regulation of synaptic plasticity (GO:0048167)3.33012243
49gamma-aminobutyric acid signaling pathway (GO:0007214)3.30656872
50neurotransmitter transport (GO:0006836)3.30003442
51regulation of postsynaptic membrane potential (GO:0060078)3.29868291
52response to auditory stimulus (GO:0010996)3.28268140
53G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.26908877
54neuron recognition (GO:0008038)3.26204714
55positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.25526951
56positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.25482174
57axonal fasciculation (GO:0007413)3.25287097
58auditory behavior (GO:0031223)3.23994002
59regulation of neurotransmitter secretion (GO:0046928)3.23595570
60long-term synaptic potentiation (GO:0060291)3.23032157
61amino acid import (GO:0043090)3.22527186
62regulation of synaptic transmission, glutamatergic (GO:0051966)3.21624779
63regulation of ARF protein signal transduction (GO:0032012)3.21425278
64postsynaptic membrane organization (GO:0001941)3.17119087
65innervation (GO:0060384)3.13226639
66negative regulation of synaptic transmission, GABAergic (GO:0032229)3.12610203
67glycine transport (GO:0015816)3.11383886
68establishment of nucleus localization (GO:0040023)3.09789177
69cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.09660377
70cell communication by electrical coupling (GO:0010644)3.07694760
71regulation of vesicle fusion (GO:0031338)3.05977907
72cytoskeletal anchoring at plasma membrane (GO:0007016)3.05815235
73regulation of neurotransmitter levels (GO:0001505)3.03776994
74transmission of nerve impulse (GO:0019226)3.00143941
75regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.98953097
76cerebral cortex radially oriented cell migration (GO:0021799)2.98601142
77regulation of neurotransmitter transport (GO:0051588)2.97947981
78prepulse inhibition (GO:0060134)2.97896394
79regulation of clathrin-mediated endocytosis (GO:2000369)2.97181268
80vesicle transport along microtubule (GO:0047496)2.94004206
81neuronal ion channel clustering (GO:0045161)2.91951511
82presynaptic membrane assembly (GO:0097105)2.89618242
83cerebellar Purkinje cell layer development (GO:0021680)2.89182862
84neuromuscular process (GO:0050905)2.88113774
85cell differentiation in hindbrain (GO:0021533)2.86197121
86positive regulation of neurotransmitter secretion (GO:0001956)2.85443590
87cell migration in hindbrain (GO:0021535)2.85230723
88neuromuscular process controlling posture (GO:0050884)2.84812236
89righting reflex (GO:0060013)2.84697264
90positive regulation of synaptic transmission (GO:0050806)2.81745660
91potassium ion homeostasis (GO:0055075)2.80829799
92regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.80397303
93regulation of dendritic spine development (GO:0060998)2.80313455
94potassium ion import (GO:0010107)2.79293490
95mechanosensory behavior (GO:0007638)2.79284907
96regulation of synaptic transmission (GO:0050804)2.79043083
97membrane depolarization (GO:0051899)2.78595280
98intraspecies interaction between organisms (GO:0051703)2.78359579
99social behavior (GO:0035176)2.78359579
100axon extension (GO:0048675)2.78271399
101presynaptic membrane organization (GO:0097090)2.77574384
102positive regulation of neurotransmitter transport (GO:0051590)2.77123746
103membrane depolarization during action potential (GO:0086010)2.76616113
104positive regulation of dendritic spine morphogenesis (GO:0061003)2.76142158
105synapse assembly (GO:0007416)2.75603158
106central nervous system projection neuron axonogenesis (GO:0021952)2.75594357
107learning (GO:0007612)2.75370018
108positive regulation of dendritic spine development (GO:0060999)2.73545709
109cellular sodium ion homeostasis (GO:0006883)2.73448049
110regulation of axon extension involved in axon guidance (GO:0048841)2.70994878
111membrane assembly (GO:0071709)2.68854785
112neuron projection extension (GO:1990138)2.59055868
113negative regulation of dendrite morphogenesis (GO:0050774)2.57436270
114cell communication involved in cardiac conduction (GO:0086065)2.47258022
115axon ensheathment in central nervous system (GO:0032291)2.44987722
116central nervous system myelination (GO:0022010)2.44987722
117regulation of axon guidance (GO:1902667)2.42494388
118regulation of cell communication by electrical coupling (GO:0010649)2.42343795
119negative regulation of dendrite development (GO:2000171)2.41275708
120apical protein localization (GO:0045176)2.38094266
121dendritic spine organization (GO:0097061)2.35308203
122detection of calcium ion (GO:0005513)2.34291728
123regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.31671282
124regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.30173478
125semaphorin-plexin signaling pathway (GO:0071526)2.25361054
126suckling behavior (GO:0001967)2.24644066
127long-chain fatty acid biosynthetic process (GO:0042759)2.23793483
128astrocyte development (GO:0014002)2.23126944
129positive regulation of axon extension (GO:0045773)2.22351153
130positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.21306669
131negative regulation of axonogenesis (GO:0050771)2.21167789
132developmental cell growth (GO:0048588)2.17280371
133axon cargo transport (GO:0008088)2.15888481
134negative regulation of cytosolic calcium ion concentration (GO:0051481)2.15269888
135myelination in peripheral nervous system (GO:0022011)2.13791443
136peripheral nervous system axon ensheathment (GO:0032292)2.13791443
137central nervous system neuron axonogenesis (GO:0021955)2.13728528
138positive regulation of dendrite development (GO:1900006)2.13589684

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.49545903
2GBX2_23144817_ChIP-Seq_PC3_Human3.19734553
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.91237215
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.86520711
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.82001445
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.55261831
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.55261831
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.47147298
9REST_21632747_ChIP-Seq_MESCs_Mouse2.45057627
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.37764224
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.37115274
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.35949560
13DROSHA_22980978_ChIP-Seq_HELA_Human2.32663487
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.32622702
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.28807185
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.28431515
17ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.28058380
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.26172011
19AR_21572438_ChIP-Seq_LNCaP_Human2.24111848
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.14261371
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.12532269
22EZH2_27294783_Chip-Seq_ESCs_Mouse1.98208393
23SUZ12_27294783_Chip-Seq_ESCs_Mouse1.95049040
24SMAD_19615063_ChIP-ChIP_OVARY_Human1.93431151
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.90587694
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.89240704
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.84756042
28TRIM28_21343339_ChIP-Seq_HEK293_Human1.83268026
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.81708574
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.79298662
31EP300_21415370_ChIP-Seq_HL-1_Mouse1.76207383
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.69533898
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.69184063
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.68090044
35* SMAD4_21799915_ChIP-Seq_A2780_Human1.65282931
36RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.52642679
37CTNNB1_20460455_ChIP-Seq_HCT116_Human1.51850119
38CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.48364151
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.48260358
40TP53_18474530_ChIP-ChIP_U2OS_Human1.47618673
41PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.47532184
42TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.43361245
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.40146688
44SOX2_21211035_ChIP-Seq_LN229_Gbm1.39741810
45RBPJ_22232070_ChIP-Seq_NCS_Mouse1.38828872
46STAT3_23295773_ChIP-Seq_U87_Human1.36285249
47WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.35452609
48AR_19668381_ChIP-Seq_PC3_Human1.35357132
49CTBP1_25329375_ChIP-Seq_LNCAP_Human1.34597027
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34375795
51ERG_21242973_ChIP-ChIP_JURKAT_Human1.34211748
52CJUN_26792858_Chip-Seq_BT549_Human1.32135086
53WT1_25993318_ChIP-Seq_PODOCYTE_Human1.30018835
54ZNF274_21170338_ChIP-Seq_K562_Hela1.29565355
55* KDM2B_26808549_Chip-Seq_K562_Human1.29371072
56* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29017166
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.28613769
58SALL1_21062744_ChIP-ChIP_HESCs_Human1.28580654
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.28209329
60P300_19829295_ChIP-Seq_ESCs_Human1.27628930
61ZNF217_24962896_ChIP-Seq_MCF-7_Human1.27028815
62AR_25329375_ChIP-Seq_VCAP_Human1.25732798
63TP53_16413492_ChIP-PET_HCT116_Human1.25666959
64* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23499784
65NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.23369316
66NRF2_20460467_ChIP-Seq_MEFs_Mouse1.23369316
67* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.23219511
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22835616
69SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22791467
70* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22149618
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22059579
72RING1B_27294783_Chip-Seq_NPCs_Mouse1.21278006
73WT1_19549856_ChIP-ChIP_CCG9911_Human1.20316280
74PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18419479
75PIAS1_25552417_ChIP-Seq_VCAP_Human1.17419664
76TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16662867
77* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15784114
78RXR_22108803_ChIP-Seq_LS180_Human1.15254882
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14315244
80CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13030280
81* TCF4_23295773_ChIP-Seq_U87_Human1.12806353
82STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.11731912
83TOP2B_26459242_ChIP-Seq_MCF-7_Human1.11688623
84P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11433255
85POU3F2_20337985_ChIP-ChIP_501MEL_Human1.10421487
86CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.10289217
87SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.09872356
88CBX2_27304074_Chip-Seq_ESCs_Mouse1.09381534
89NANOG_18555785_Chip-Seq_ESCs_Mouse1.07092919
90ZFP57_27257070_Chip-Seq_ESCs_Mouse1.06822479
91SOX9_26525672_Chip-Seq_HEART_Mouse1.06748312
92TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06204250
93TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05431614
94NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05062371
95LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05057548
96ZFP281_27345836_Chip-Seq_ESCs_Mouse1.04970401
97CDX2_19796622_ChIP-Seq_MESCs_Mouse1.04932168
98* SMAD3_21741376_ChIP-Seq_ESCs_Human1.03867163
99CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.03302838
100* ARNT_22903824_ChIP-Seq_MCF-7_Human1.03182619
101ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02077054
102MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01356055
103KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00492778
104TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00441061
105TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00298299
106POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00298299
107ESR1_21235772_ChIP-Seq_MCF-7_Human0.99994056
108* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.99436243
109* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.99278628
110TAF15_26573619_Chip-Seq_HEK293_Human0.98315141
111DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.97980632
112RNF2_27304074_Chip-Seq_NSC_Mouse0.95949410
113IGF1R_20145208_ChIP-Seq_DFB_Human0.95288204
114DNAJC2_21179169_ChIP-ChIP_NT2_Human0.95268506
115SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.95164779
116RUNX2_22187159_ChIP-Seq_PCA_Human0.95135738
117FUS_26573619_Chip-Seq_HEK293_Human0.93108437
118ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92103126
119* AHR_22903824_ChIP-Seq_MCF-7_Human0.91985261
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91263928
121GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90903296
122VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90258277
123SMAD3_21741376_ChIP-Seq_HESCs_Human0.89992461
124SMAD4_21741376_ChIP-Seq_HESCs_Human0.89933842

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.62266639
2MP0003635_abnormal_synaptic_transmissio4.00643291
3MP0003880_abnormal_central_pattern3.97757101
4MP0004270_analgesia3.84400663
5MP0002063_abnormal_learning/memory/cond3.16987378
6MP0009745_abnormal_behavioral_response3.09873782
7MP0009046_muscle_twitch3.09566325
8MP0002064_seizures2.98593118
9MP0001968_abnormal_touch/_nociception2.78380505
10MP0005423_abnormal_somatic_nervous2.67804766
11MP0002734_abnormal_mechanical_nocicepti2.64527930
12MP0002572_abnormal_emotion/affect_behav2.60978480
13MP0001486_abnormal_startle_reflex2.52456879
14MP0002272_abnormal_nervous_system2.34140793
15MP0009780_abnormal_chondrocyte_physiolo2.31894018
16MP0002736_abnormal_nociception_after2.16410886
17MP0004858_abnormal_nervous_system2.04918060
18MP0000778_abnormal_nervous_system2.04510543
19MP0008569_lethality_at_weaning2.01692448
20MP0002067_abnormal_sensory_capabilities2.00458739
21MP0001501_abnormal_sleep_pattern1.91844327
22MP0003705_abnormal_hypodermis_morpholog1.88295096
23MP0004885_abnormal_endolymph1.87585566
24MP0005257_abnormal_intraocular_pressure1.87190936
25MP0001440_abnormal_grooming_behavior1.85380224
26MP0003787_abnormal_imprinting1.79647333
27MP0002735_abnormal_chemical_nociception1.78804645
28MP0002733_abnormal_thermal_nociception1.78005812
29MP0004811_abnormal_neuron_physiology1.76702125
30MP0001970_abnormal_pain_threshold1.73298042
31MP0002557_abnormal_social/conspecific_i1.72079492
32MP0002184_abnormal_innervation1.67501141
33MP0005646_abnormal_pituitary_gland1.65391454
34MP0005386_behavior/neurological_phenoty1.62532119
35MP0004924_abnormal_behavior1.62532119
36MP0000955_abnormal_spinal_cord1.61901347
37MP0005409_darkened_coat_color1.59949719
38MP0002909_abnormal_adrenal_gland1.50591149
39MP0000569_abnormal_digit_pigmentation1.48914056
40MP0002882_abnormal_neuron_morphology1.48722102
41MP0010234_abnormal_vibrissa_follicle1.46967712
42MP0003329_amyloid_beta_deposits1.44032607
43MP0002877_abnormal_melanocyte_morpholog1.41734160
44MP0003879_abnormal_hair_cell1.41394008
45MP0002066_abnormal_motor_capabilities/c1.39569024
46MP0002822_catalepsy1.37471919
47MP0003950_abnormal_plasma_membrane1.32995356
48MP0002152_abnormal_brain_morphology1.32556713
49MP0000579_abnormal_nail_morphology1.32147121
50MP0001984_abnormal_olfaction1.31242949
51MP0003633_abnormal_nervous_system1.28951950
52MP0004272_abnormal_basement_membrane1.25170404
53MP0001299_abnormal_eye_distance/1.23496909
54MP0001502_abnormal_circadian_rhythm1.23492036
55MP0005248_abnormal_Harderian_gland1.17534132
56MP0010386_abnormal_urinary_bladder1.16642146
57MP0000537_abnormal_urethra_morphology1.14762339
58MP0003631_nervous_system_phenotype1.14169033
59MP0008438_abnormal_cutaneous_collagen1.10163764
60MP0005623_abnormal_meninges_morphology1.08893012
61MP0003634_abnormal_glial_cell1.08087128
62MP0010368_abnormal_lymphatic_system1.07835334
63MP0003283_abnormal_digestive_organ1.06981613
64MP0000013_abnormal_adipose_tissue1.06621904
65MP0003690_abnormal_glial_cell1.04349782
66MP0000534_abnormal_ureter_morphology1.02336390
67MP0004142_abnormal_muscle_tone1.01621036
68MP0003136_yellow_coat_color0.99862327
69MP0004742_abnormal_vestibular_system0.99361159
70MP0004130_abnormal_muscle_cell0.97607771
71MP0004233_abnormal_muscle_weight0.97409480
72MP0004145_abnormal_muscle_electrophysio0.95570735
73MP0000631_abnormal_neuroendocrine_gland0.95107562
74MP0001879_abnormal_lymphatic_vessel0.94306823
75MP0001485_abnormal_pinna_reflex0.93428669
76MP0003632_abnormal_nervous_system0.93163546
77MP0002229_neurodegeneration0.92732410
78MP0005551_abnormal_eye_electrophysiolog0.91493493
79MP0002653_abnormal_ependyma_morphology0.90940178
80MP0002896_abnormal_bone_mineralization0.90663842
81MP0001177_atelectasis0.90525470
82MP0001529_abnormal_vocalization0.90063963
83MP0003861_abnormal_nervous_system0.90044138
84MP0001963_abnormal_hearing_physiology0.88997614
85MP0000749_muscle_degeneration0.88628954
86MP0009053_abnormal_anal_canal0.88477041
87MP0002234_abnormal_pharynx_morphology0.88261553
88MP0004510_myositis0.87899874
89MP0000762_abnormal_tongue_morphology0.87854037
90MP0000566_synostosis0.87690083
91MP0005187_abnormal_penis_morphology0.87432016
92MP0005645_abnormal_hypothalamus_physiol0.85727046
93MP0000747_muscle_weakness0.84178209
94MP0003868_abnormal_feces_composition0.83805302
95MP0003122_maternal_imprinting0.83510967
96MP0004147_increased_porphyrin_level0.81971995
97MP0006276_abnormal_autonomic_nervous0.81714533
98MP0002090_abnormal_vision0.81683438
99MP0003075_altered_response_to0.78795220
100MP0001905_abnormal_dopamine_level0.78134843
101MP0002752_abnormal_somatic_nervous0.76550670
102MP0010678_abnormal_skin_adnexa0.76475164
103MP0003385_abnormal_body_wall0.76371736
104MP0000462_abnormal_digestive_system0.76328080
105MP0000920_abnormal_myelination0.76244802
106MP0000751_myopathy0.75567665
107MP0004084_abnormal_cardiac_muscle0.75557559
108MP0002069_abnormal_eating/drinking_beha0.74419013
109MP0003755_abnormal_palate_morphology0.73126891
110MP0008961_abnormal_basal_metabolism0.71836113
111MP0001188_hyperpigmentation0.71708259
112MP0005394_taste/olfaction_phenotype0.71658381
113MP0005499_abnormal_olfactory_system0.71658381
114MP0003935_abnormal_craniofacial_develop0.71453654
115MP0008872_abnormal_physiological_respon0.69720736
116MP0004036_abnormal_muscle_relaxation0.68526885
117MP0003121_genomic_imprinting0.67861556
118MP0004085_abnormal_heartbeat0.67511320
119MP0004043_abnormal_pH_regulation0.67500249
120MP0004215_abnormal_myocardial_fiber0.66329096
121MP0003123_paternal_imprinting0.66008695
122MP0003091_abnormal_cell_migration0.65638638
123MP0006072_abnormal_retinal_apoptosis0.64242841
124MP0005171_absent_coat_pigmentation0.63718166
125MP0003656_abnormal_erythrocyte_physiolo0.62069012
126MP0010769_abnormal_survival0.60767936
127MP0001943_abnormal_respiration0.60598647
128MP0002089_abnormal_postnatal_growth/wei0.60362566
129MP0008874_decreased_physiological_sensi0.60208854
130MP0003137_abnormal_impulse_conducting0.60206974
131MP0004484_altered_response_of0.58324345
132MP0010770_preweaning_lethality0.58292221
133MP0002082_postnatal_lethality0.58292221
134MP0005167_abnormal_blood-brain_barrier0.57251541
135MP0010768_mortality/aging0.56350898

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.17737584
2Myokymia (HP:0002411)5.40027827
3Focal seizures (HP:0007359)4.69881018
4Epileptic encephalopathy (HP:0200134)4.26698868
5Progressive cerebellar ataxia (HP:0002073)4.24925124
6Visual hallucinations (HP:0002367)4.11572658
7Action tremor (HP:0002345)4.10475475
8Atonic seizures (HP:0010819)3.58809097
9Febrile seizures (HP:0002373)3.58512824
10Genetic anticipation (HP:0003743)3.21989743
11Dysdiadochokinesis (HP:0002075)3.20757962
12Absence seizures (HP:0002121)3.19812612
13Generalized tonic-clonic seizures (HP:0002069)3.18957192
14Gaze-evoked nystagmus (HP:0000640)3.06269348
15Broad-based gait (HP:0002136)3.04104225
16Insidious onset (HP:0003587)2.99867144
17Termporal pattern (HP:0011008)2.99867144
18Supranuclear gaze palsy (HP:0000605)2.98006913
19Depression (HP:0000716)2.96246317
20Urinary bladder sphincter dysfunction (HP:0002839)2.91104411
21Dialeptic seizures (HP:0011146)2.88314177
22Papilledema (HP:0001085)2.87337141
23Megalencephaly (HP:0001355)2.85859411
24Impaired vibration sensation in the lower limbs (HP:0002166)2.85308601
25Ankle clonus (HP:0011448)2.73666464
26Truncal ataxia (HP:0002078)2.73553131
27Impaired smooth pursuit (HP:0007772)2.72240284
28Poor eye contact (HP:0000817)2.67399626
29Dysmetria (HP:0001310)2.62990059
30Postural instability (HP:0002172)2.61759496
31Mutism (HP:0002300)2.61679170
32Hemiparesis (HP:0001269)2.58718077
33Excessive salivation (HP:0003781)2.54161429
34Drooling (HP:0002307)2.54161429
35Aplasia involving bones of the extremities (HP:0009825)2.51674278
36Aplasia involving bones of the upper limbs (HP:0009823)2.51674278
37Aplasia of the phalanges of the hand (HP:0009802)2.51674278
38Overgrowth (HP:0001548)2.50561728
39Hemiplegia (HP:0002301)2.47213884
40Dysmetric saccades (HP:0000641)2.44307303
41Abnormal eating behavior (HP:0100738)2.44209951
42Impaired social interactions (HP:0000735)2.43224426
43Abnormal social behavior (HP:0012433)2.43224426
44Abnormality of binocular vision (HP:0011514)2.41884758
45Diplopia (HP:0000651)2.41884758
46Abnormality of ocular smooth pursuit (HP:0000617)2.41826870
47Insomnia (HP:0100785)2.38798146
48Urinary urgency (HP:0000012)2.36930428
49Arterial tortuosity (HP:0005116)2.36664632
50Fetal akinesia sequence (HP:0001989)2.33949495
51Intention tremor (HP:0002080)2.30531548
52Abnormality of the lower motor neuron (HP:0002366)2.28237131
53Obstructive sleep apnea (HP:0002870)2.26620003
54Hyperventilation (HP:0002883)2.25836378
55Anxiety (HP:0000739)2.21845468
56Vascular tortuosity (HP:0004948)2.18495541
57Absent speech (HP:0001344)2.18437510
58Bundle branch block (HP:0011710)2.14721915
59Hammertoe (HP:0001765)2.14037420
60Spastic gait (HP:0002064)2.09684497
61Pointed chin (HP:0000307)2.07655215
62Scanning speech (HP:0002168)2.06056660
63Stereotypic behavior (HP:0000733)2.02437747
64Lower limb muscle weakness (HP:0007340)1.98451832
65Amblyopia (HP:0000646)1.98091981
66Abnormality of the corticospinal tract (HP:0002492)1.97128236
67Inappropriate behavior (HP:0000719)1.95801724
68Aqueductal stenosis (HP:0002410)1.95247276
69Cerebral inclusion bodies (HP:0100314)1.94559431
70Bradykinesia (HP:0002067)1.94491683
71Hyporeflexia of lower limbs (HP:0002600)1.93602265
72Shallow orbits (HP:0000586)1.92429467
73Neurofibrillary tangles (HP:0002185)1.91740290
74Epileptiform EEG discharges (HP:0011182)1.90366386
75Impaired vibratory sensation (HP:0002495)1.90247835
76Status epilepticus (HP:0002133)1.88714060
77Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.88571081
78Annular pancreas (HP:0001734)1.86543614
79Protrusio acetabuli (HP:0003179)1.86349741
80Hyperacusis (HP:0010780)1.85746506
81Progressive inability to walk (HP:0002505)1.84656365
82Abnormality of the ischium (HP:0003174)1.84175394
83EEG with generalized epileptiform discharges (HP:0011198)1.83479777
84Neuronal loss in central nervous system (HP:0002529)1.83006274
85Hypoplasia of the iris (HP:0007676)1.82328362
86Torticollis (HP:0000473)1.81032347
87Lower limb amyotrophy (HP:0007210)1.78400758
88Pheochromocytoma (HP:0002666)1.77867038
89Atrophic scars (HP:0001075)1.77548354
90Hypsarrhythmia (HP:0002521)1.77100041
91Macroorchidism (HP:0000053)1.74548483
92Lower limb asymmetry (HP:0100559)1.73894241
93Agitation (HP:0000713)1.73004505
94Apathy (HP:0000741)1.70256566
95Papillary thyroid carcinoma (HP:0002895)1.69824973
96Neonatal short-limb short stature (HP:0008921)1.69379378
97Incomplete penetrance (HP:0003829)1.67137751
98Gait ataxia (HP:0002066)1.67131742
99Protruding tongue (HP:0010808)1.65660417
100Akinesia (HP:0002304)1.65627190
101Heterotopia (HP:0002282)1.64401689
102Postural tremor (HP:0002174)1.63968092
103Nuclear cataract (HP:0100018)1.62995380
104Diminished motivation (HP:0000745)1.62788324
105Laryngomalacia (HP:0001601)1.62738554
106Upper limb amyotrophy (HP:0009129)1.61678847
107Distal upper limb amyotrophy (HP:0007149)1.61678847
108Cerebral aneurysm (HP:0004944)1.61323162
109Overriding aorta (HP:0002623)1.60883113
110Amyotrophic lateral sclerosis (HP:0007354)1.59902541
111Blue irides (HP:0000635)1.59712154
112Hand muscle atrophy (HP:0009130)1.58259925
113Ankyloglossia (HP:0010296)1.57771268
114Abnormality of the astrocytes (HP:0100707)1.57351330
115Astrocytoma (HP:0009592)1.57351330
116Abnormality of salivation (HP:0100755)1.56960212
117Frequent falls (HP:0002359)1.56924878
118Generalized myoclonic seizures (HP:0002123)1.56330362
119Focal dystonia (HP:0004373)1.55981449
120Vertebral arch anomaly (HP:0008438)1.55820969
121Cubitus valgus (HP:0002967)1.53734045
122Abnormality of saccadic eye movements (HP:0000570)1.53415625
123Neoplasm of the heart (HP:0100544)1.53093088
124Hypopigmentation of the fundus (HP:0007894)1.52512102
125Hyperthyroidism (HP:0000836)1.51790584
126Sporadic (HP:0003745)1.51263101
127Polyphagia (HP:0002591)1.50803549
128Difficulty running (HP:0009046)1.50750620
129Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.50732766
130Intellectual disability, profound (HP:0002187)1.48901134
131Abnormality of the labia minora (HP:0012880)1.47953346
132Bronchomalacia (HP:0002780)1.47698602
133Elfin facies (HP:0004428)1.47677638
134Specific learning disability (HP:0001328)1.46639702
135Tibial bowing (HP:0002982)1.45810020
136Microglossia (HP:0000171)1.45198094
137Pulmonic stenosis (HP:0001642)1.44674978
138Open mouth (HP:0000194)1.43895303
139Spinal rigidity (HP:0003306)1.43228548
140Bladder diverticulum (HP:0000015)1.42739030
141Sleep apnea (HP:0010535)1.42606909
142Complete atrioventricular canal defect (HP:0001674)1.42378419

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.96882434
2MAP3K93.75670618
3EPHA43.74098579
4MARK13.08881201
5MAP3K42.98453433
6PRKD32.76394235
7MINK12.44654398
8PAK62.40018360
9NTRK22.37494987
10DAPK22.26514157
11MAP2K72.25866364
12KSR22.21820662
13CAMKK12.19620391
14KSR11.80645639
15NTRK11.79975287
16CASK1.70673508
17PLK21.68319655
18MAP2K41.68018358
19EPHB21.49158866
20MAPK131.47958136
21CDK51.46418545
22MET1.45647402
23LATS21.44495845
24STK381.37686104
25PNCK1.35386394
26CDK191.35334257
27TYRO31.33206110
28PTK21.30198137
29TAOK11.26769116
30CAMKK21.26658572
31MST1R1.24468820
32ROCK21.23759247
33SGK2231.21754440
34SGK4941.21754440
35MAP3K61.16832795
36SGK21.16472097
37RET1.13833799
38SIK21.07124259
39SGK31.06873357
40DAPK11.04938642
41TNIK1.04705206
42MAP3K131.04439862
43GRK51.03248560
44ICK1.02539323
45STK111.01304535
46PHKG21.00146246
47PHKG11.00146246
48CDK150.99675146
49ERBB40.98307010
50CDK180.98240528
51RIPK40.97588613
52UHMK10.97572474
53PRPF4B0.96860527
54CDK140.96620407
55PDGFRB0.95527662
56PRKCG0.95448543
57CAMK1G0.93983406
58SCYL20.92943508
59MAP3K20.91617811
60FGFR20.88715530
61SGK10.88133610
62CAMK2G0.87200719
63PKN10.87115705
64RIPK10.86087417
65CDK11A0.85292247
66MOS0.84806047
67TRPM70.82255077
68ARAF0.82032107
69ALK0.81890733
70FER0.81818058
71PRKCH0.81770553
72CAMK2D0.81429844
73OXSR10.81000932
74LIMK10.80693891
75DMPK0.80607970
76RAF10.78972445
77ABL20.76536046
78CSNK1G20.75722199
79TTN0.75107398
80WNK10.74153773
81CAMK2A0.74084029
82CAMK1D0.72556037
83DYRK1A0.72381616
84AKT30.71686703
85ERBB30.70413463
86MAP3K120.68886361
87TRIB30.68762198
88FES0.67336635
89STK38L0.64520448
90PAK20.64416470
91CAMK10.62374168
92NEK10.61878663
93FRK0.61762093
94BMPR20.60778528
95PINK10.59549385
96RPS6KA30.59046445
97PTK2B0.58755833
98LMTK20.57652650
99PDK10.56593014
100PAK30.55808481
101EEF2K0.55433406
102DDR20.54844036
103MAPK100.54066912
104CDC42BPA0.53917522
105MTOR0.51703830
106PDPK10.51521107
107LATS10.51253111
108BRSK10.50238085
109BMX0.49732906
110STK30.49507053
111MARK20.49159822
112NEK60.45356132
113STK390.44871045
114RPS6KA20.41733829
115CAMK2B0.41489990
116EPHA20.40450630
117WNK30.40141746
118PRKCE0.40135184
119PRKCZ0.38833136
120MAP3K10.38564396
121ERBB20.38178864
122ROCK10.37976174
123IRAK30.37517501
124PDGFRA0.36668565
125AKT20.36530099
126FYN0.35763464
127CCNB10.34503855
128FGR0.34457700
129PRKAA10.33424090
130CSNK1A1L0.33052063
131MAP2K10.31902567
132GSK3B0.31372447

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.17974910
2Synaptic vesicle cycle_Homo sapiens_hsa047212.76931359
3Glutamatergic synapse_Homo sapiens_hsa047242.44793890
4Long-term potentiation_Homo sapiens_hsa047202.44637788
5GABAergic synapse_Homo sapiens_hsa047272.41711128
6Circadian entrainment_Homo sapiens_hsa047132.38477618
7Olfactory transduction_Homo sapiens_hsa047402.36057690
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.29714394
9Morphine addiction_Homo sapiens_hsa050322.18712613
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.07772518
11Amphetamine addiction_Homo sapiens_hsa050312.02235471
12Salivary secretion_Homo sapiens_hsa049701.98107207
13Nitrogen metabolism_Homo sapiens_hsa009101.97665750
14Dopaminergic synapse_Homo sapiens_hsa047281.91002816
15Insulin secretion_Homo sapiens_hsa049111.81217089
16Gastric acid secretion_Homo sapiens_hsa049711.80499350
17Cholinergic synapse_Homo sapiens_hsa047251.74540784
18Long-term depression_Homo sapiens_hsa047301.73968181
19Vitamin B6 metabolism_Homo sapiens_hsa007501.69225428
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.65841625
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55268367
22Oxytocin signaling pathway_Homo sapiens_hsa049211.53180517
23GnRH signaling pathway_Homo sapiens_hsa049121.47764700
24Taste transduction_Homo sapiens_hsa047421.45418866
25Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.44933984
26Renin secretion_Homo sapiens_hsa049241.44695687
27Cocaine addiction_Homo sapiens_hsa050301.40443553
28Serotonergic synapse_Homo sapiens_hsa047261.39299606
29Glioma_Homo sapiens_hsa052141.39090597
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.34643276
31Gap junction_Homo sapiens_hsa045401.34357810
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.31728056
33Calcium signaling pathway_Homo sapiens_hsa040201.27876281
34cAMP signaling pathway_Homo sapiens_hsa040241.27484851
35Estrogen signaling pathway_Homo sapiens_hsa049151.25741686
36Type II diabetes mellitus_Homo sapiens_hsa049301.21379428
37ErbB signaling pathway_Homo sapiens_hsa040121.19180929
38Oocyte meiosis_Homo sapiens_hsa041141.18825407
39Adherens junction_Homo sapiens_hsa045201.18687936
40Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15972839
41ECM-receptor interaction_Homo sapiens_hsa045121.15813350
42Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.15463438
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13855596
44Axon guidance_Homo sapiens_hsa043601.12655062
45Melanogenesis_Homo sapiens_hsa049161.06726117
46* Dorso-ventral axis formation_Homo sapiens_hsa043201.06498717
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04596320
48Focal adhesion_Homo sapiens_hsa045101.03287971
49Prion diseases_Homo sapiens_hsa050201.03009601
50cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02784106
51Phospholipase D signaling pathway_Homo sapiens_hsa040721.02399793
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.00179277
53Collecting duct acid secretion_Homo sapiens_hsa049660.96593692
54Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.90883019
55Bile secretion_Homo sapiens_hsa049760.89119443
56Neurotrophin signaling pathway_Homo sapiens_hsa047220.86505993
57Choline metabolism in cancer_Homo sapiens_hsa052310.86164456
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85689882
59Alcoholism_Homo sapiens_hsa050340.85635157
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.83686852
61MAPK signaling pathway_Homo sapiens_hsa040100.83677738
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.83404772
63mTOR signaling pathway_Homo sapiens_hsa041500.83030423
64Renal cell carcinoma_Homo sapiens_hsa052110.78384112
65Circadian rhythm_Homo sapiens_hsa047100.78201004
66Thyroid hormone synthesis_Homo sapiens_hsa049180.78123688
67Endometrial cancer_Homo sapiens_hsa052130.76217733
68Pancreatic secretion_Homo sapiens_hsa049720.75855606
69Dilated cardiomyopathy_Homo sapiens_hsa054140.75740986
70AMPK signaling pathway_Homo sapiens_hsa041520.75195035
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74767005
72Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.74299792
73VEGF signaling pathway_Homo sapiens_hsa043700.72648219
74Ras signaling pathway_Homo sapiens_hsa040140.70682138
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.70359729
76Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69562971
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.69116410
78Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.68965644
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.68549606
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.67619213
81Rap1 signaling pathway_Homo sapiens_hsa040150.66850802
82Phototransduction_Homo sapiens_hsa047440.65381402
83Non-small cell lung cancer_Homo sapiens_hsa052230.64458550
84Endocytosis_Homo sapiens_hsa041440.63756409
85Ovarian steroidogenesis_Homo sapiens_hsa049130.63720440
86Colorectal cancer_Homo sapiens_hsa052100.63168920
87Inositol phosphate metabolism_Homo sapiens_hsa005620.62906782
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62757537
89Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60632036
90AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60216524
91Wnt signaling pathway_Homo sapiens_hsa043100.60018780
92Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57547361
93Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.56980196
94MicroRNAs in cancer_Homo sapiens_hsa052060.56848000
95Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.54879857
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53036688
97TGF-beta signaling pathway_Homo sapiens_hsa043500.51672737
98Vibrio cholerae infection_Homo sapiens_hsa051100.50481484
99Glucagon signaling pathway_Homo sapiens_hsa049220.49716014
100Hippo signaling pathway_Homo sapiens_hsa043900.49714868
101Insulin signaling pathway_Homo sapiens_hsa049100.49245116
102Amoebiasis_Homo sapiens_hsa051460.48868167
103Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.48450162
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48364721
105Central carbon metabolism in cancer_Homo sapiens_hsa052300.48126726
106Sphingolipid metabolism_Homo sapiens_hsa006000.47348209
107Lysosome_Homo sapiens_hsa041420.46203689
108Fatty acid biosynthesis_Homo sapiens_hsa000610.46121118
109Chemokine signaling pathway_Homo sapiens_hsa040620.44573662
110Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.44320896
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44224397
112Melanoma_Homo sapiens_hsa052180.43754285
113Hedgehog signaling pathway_Homo sapiens_hsa043400.43723479
114Pancreatic cancer_Homo sapiens_hsa052120.43502952
115Prolactin signaling pathway_Homo sapiens_hsa049170.43499052
116Mineral absorption_Homo sapiens_hsa049780.43436046
117Regulation of actin cytoskeleton_Homo sapiens_hsa048100.42466399
118Cardiac muscle contraction_Homo sapiens_hsa042600.39334765
119Type I diabetes mellitus_Homo sapiens_hsa049400.38820538
120Tight junction_Homo sapiens_hsa045300.38396983
121Proteoglycans in cancer_Homo sapiens_hsa052050.38386087

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