TMEM240

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 transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.60156019
2locomotory exploration behavior (GO:0035641)6.51202171
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.46709243
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.09947839
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.87697306
6vocalization behavior (GO:0071625)5.65493256
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.49517928
8glutamate secretion (GO:0014047)5.31536236
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.26292952
10synaptic vesicle exocytosis (GO:0016079)5.24501343
11regulation of synaptic vesicle exocytosis (GO:2000300)5.19713367
12ionotropic glutamate receptor signaling pathway (GO:0035235)5.05331690
13regulation of glutamate receptor signaling pathway (GO:1900449)4.98824474
14neuronal action potential propagation (GO:0019227)4.98671785
15neurotransmitter secretion (GO:0007269)4.80991531
16exploration behavior (GO:0035640)4.70869222
17layer formation in cerebral cortex (GO:0021819)4.66624834
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.59988245
19regulation of synapse structural plasticity (GO:0051823)4.59937051
20protein localization to synapse (GO:0035418)4.59402189
21gamma-aminobutyric acid transport (GO:0015812)4.59117535
22synaptic transmission, glutamatergic (GO:0035249)4.58480233
23regulation of synaptic vesicle transport (GO:1902803)4.57405394
24cellular potassium ion homeostasis (GO:0030007)4.52996942
25sodium ion export (GO:0071436)4.52528047
26regulation of neuronal synaptic plasticity (GO:0048168)4.51206830
27glutamate receptor signaling pathway (GO:0007215)4.50834473
28dendritic spine morphogenesis (GO:0060997)4.42860185
29membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.22075520
30long-term memory (GO:0007616)4.21265863
31neurotransmitter-gated ion channel clustering (GO:0072578)4.17862162
32cerebellar Purkinje cell differentiation (GO:0021702)4.16901643
33neuron-neuron synaptic transmission (GO:0007270)4.14314125
34positive regulation of membrane potential (GO:0045838)4.07926079
35positive regulation of synapse maturation (GO:0090129)4.01540094
36cerebellar granule cell differentiation (GO:0021707)4.00942459
37regulation of excitatory postsynaptic membrane potential (GO:0060079)3.99623671
38neuromuscular process controlling balance (GO:0050885)3.99596098
39central nervous system myelination (GO:0022010)3.97333954
40axon ensheathment in central nervous system (GO:0032291)3.97333954
41neuron cell-cell adhesion (GO:0007158)3.89763209
42G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.82912162
43response to pheromone (GO:0019236)3.81500250
44activation of protein kinase A activity (GO:0034199)3.79194553
45regulation of postsynaptic membrane potential (GO:0060078)3.76976885
46prepulse inhibition (GO:0060134)3.76624286
47neurotransmitter transport (GO:0006836)3.76531339
48auditory behavior (GO:0031223)3.73186927
49cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.72847557
50regulation of dendritic spine morphogenesis (GO:0061001)3.71532365
51glycine transport (GO:0015816)3.69514843
52neuromuscular process controlling posture (GO:0050884)3.68274277
53cell migration in hindbrain (GO:0021535)3.68130387
54proline transport (GO:0015824)3.67421789
55transmission of nerve impulse (GO:0019226)3.67327204
56cytoskeletal anchoring at plasma membrane (GO:0007016)3.61349589
57positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.57140005
58regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.56434297
59regulation of synaptic plasticity (GO:0048167)3.56397343
60regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.56091588
61regulation of neurotransmitter levels (GO:0001505)3.55845111
62cell communication by electrical coupling (GO:0010644)3.53693961
63regulation of neurotransmitter secretion (GO:0046928)3.53210532
64G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.47676121
65regulation of ARF protein signal transduction (GO:0032012)3.46608038
66dendrite morphogenesis (GO:0048813)3.45911122
67membrane depolarization during action potential (GO:0086010)3.44217614
68amino acid import (GO:0043090)3.40737146
69regulation of synaptic transmission, glutamatergic (GO:0051966)3.39794695
70regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.37640902
71gamma-aminobutyric acid signaling pathway (GO:0007214)3.37359407
72positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.37282692
73synaptic vesicle endocytosis (GO:0048488)3.34905382
74membrane depolarization (GO:0051899)3.34680788
75response to auditory stimulus (GO:0010996)3.32604493
76positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.32229297
77presynaptic membrane organization (GO:0097090)3.30734884
78regulation of neurotransmitter transport (GO:0051588)3.29039743
79membrane hyperpolarization (GO:0060081)3.27435732
80potassium ion import (GO:0010107)3.27341311
81positive regulation of neurotransmitter secretion (GO:0001956)3.26864707
82positive regulation of neurotransmitter transport (GO:0051590)3.25689244
83dendritic spine organization (GO:0097061)3.24794504
84positive regulation of dendritic spine development (GO:0060999)3.24375027
85neuronal ion channel clustering (GO:0045161)3.24081591
86regulation of vesicle fusion (GO:0031338)3.23867786
87regulation of voltage-gated calcium channel activity (GO:1901385)3.21684023
88mechanosensory behavior (GO:0007638)3.21147977
89positive regulation of synaptic transmission, GABAergic (GO:0032230)3.18963963
90cell differentiation in hindbrain (GO:0021533)3.18895523
91long-term synaptic potentiation (GO:0060291)3.18161134
92adult walking behavior (GO:0007628)3.15652353
93neuromuscular process (GO:0050905)3.15383528
94cerebellar Purkinje cell layer development (GO:0021680)3.14596719
95regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.14530428
96postsynaptic membrane organization (GO:0001941)3.12662587
97neuron recognition (GO:0008038)3.12302968
98regulation of dendritic spine development (GO:0060998)3.09049421
99cellular sodium ion homeostasis (GO:0006883)3.07778782
100positive regulation of dendritic spine morphogenesis (GO:0061003)3.06237450
101L-amino acid import (GO:0043092)3.05475889
102learning (GO:0007612)3.05379524
103negative regulation of synaptic transmission, GABAergic (GO:0032229)3.04359562
104intraspecies interaction between organisms (GO:0051703)3.03362921
105social behavior (GO:0035176)3.03362921
106regulation of synapse maturation (GO:0090128)3.01937660
107synapse assembly (GO:0007416)3.00916233
108regulation of synaptic transmission (GO:0050804)2.99907371
109potassium ion homeostasis (GO:0055075)2.98660348
110axonal fasciculation (GO:0007413)2.93823712
111positive regulation of dendrite development (GO:1900006)2.93187822
112neuromuscular synaptic transmission (GO:0007274)2.93051758
113mating behavior (GO:0007617)2.87684076
114negative regulation of dendrite morphogenesis (GO:0050774)2.85749313
115chemosensory behavior (GO:0007635)2.78730281
116regulation of dendrite morphogenesis (GO:0048814)2.76040076
117establishment of mitochondrion localization (GO:0051654)2.69918047
118presynaptic membrane assembly (GO:0097105)2.61751622
119regulation of synapse organization (GO:0050807)2.57165935

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.01975136
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.11490747
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07771174
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07085032
5RARB_27405468_Chip-Seq_BRAIN_Mouse3.01696461
6DROSHA_22980978_ChIP-Seq_HELA_Human3.00324284
7REST_21632747_ChIP-Seq_MESCs_Mouse2.90330595
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.84823207
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.84823207
10GBX2_23144817_ChIP-Seq_PC3_Human2.74444485
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68069974
12IKZF1_21737484_ChIP-ChIP_HCT116_Human2.65444348
13EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.64962775
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.64943734
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.63801717
16MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.54690862
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48730664
18SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.48198573
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.46185930
20SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.45086273
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.41787277
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.39086209
23EZH2_27304074_Chip-Seq_ESCs_Mouse2.38862468
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.26646685
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.15015639
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.09259929
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06267698
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.93890980
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.89344510
30RARG_19884340_ChIP-ChIP_MEFs_Mouse1.88660524
31PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.86460046
32TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.77781364
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.67727312
34AR_21572438_ChIP-Seq_LNCaP_Human1.66819317
35ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.66715225
36SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.60607008
37KDM2B_26808549_Chip-Seq_K562_Human1.55319088
38DNAJC2_21179169_ChIP-ChIP_NT2_Human1.53448491
39RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.51124588
40UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.48006891
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.44124553
42EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.42527517
43TP53_20018659_ChIP-ChIP_R1E_Mouse1.42112644
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41981448
45TRIM28_21343339_ChIP-Seq_HEK293_Human1.39950619
46EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.37303870
47ZFP281_18757296_ChIP-ChIP_E14_Mouse1.36305894
48ZNF274_21170338_ChIP-Seq_K562_Hela1.33897662
49WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.32485665
50SMAD4_21799915_ChIP-Seq_A2780_Human1.32088941
51CREB1_26743006_Chip-Seq_LNCaP_Human1.31051306
52P68_20966046_ChIP-Seq_HELA_Human1.30516303
53ESR2_21235772_ChIP-Seq_MCF-7_Human1.30372118
54CTBP2_25329375_ChIP-Seq_LNCAP_Human1.29530470
55SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.28171264
56GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.27242003
57TET1_21451524_ChIP-Seq_MESCs_Mouse1.24732287
58WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23193122
59TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22952591
60CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.22920921
61AR_19668381_ChIP-Seq_PC3_Human1.22260486
62RACK7_27058665_Chip-Seq_MCF-7_Human1.19543610
63KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18343726
64RING1B_27294783_Chip-Seq_NPCs_Mouse1.18173422
65SA1_27219007_Chip-Seq_ERYTHROID_Human1.17802656
66SOX2_21211035_ChIP-Seq_LN229_Gbm1.16536446
67MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.16522021
68ZFP281_27345836_Chip-Seq_ESCs_Mouse1.15184313
69THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.14095511
70PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.13159692
71SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.11834507
72CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.11388089
73KDM2B_26808549_Chip-Seq_SUP-B15_Human1.10964632
74RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10214379
75CTCF_27219007_Chip-Seq_ERYTHROID_Human1.09480275
76ELK3_25401928_ChIP-Seq_HUVEC_Human1.09284818
77PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.08496257
78CTBP1_25329375_ChIP-Seq_LNCAP_Human1.07185421
79RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.05489900
80GATA1_26923725_Chip-Seq_HPCs_Mouse1.04921845
81TP53_23651856_ChIP-Seq_MEFs_Mouse1.04533681
82ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.04379054
83TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.03482656
84TET1_21490601_ChIP-Seq_MESCs_Mouse1.03305736
85STAT3_23295773_ChIP-Seq_U87_Human1.02977123
86NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02926302
87P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02884127
88TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99248742
89AR_25329375_ChIP-Seq_VCAP_Human0.99004186
90P300_27058665_Chip-Seq_ZR-75-30cells_Human0.98455476
91CTCF_27219007_Chip-Seq_Bcells_Human0.98317881
92SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.97119952
93MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96803302
94SMAD3_21741376_ChIP-Seq_ESCs_Human0.96249743
95SMAD3_21741376_ChIP-Seq_EPCs_Human0.95734382
96SRY_22984422_ChIP-ChIP_TESTIS_Rat0.95646684
97VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.95348329
98RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.94834833
99TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94698799
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94452897
101DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94311499
102YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93283201
103TCF4_23295773_ChIP-Seq_U87_Human0.91255412
104SMC1_22415368_ChIP-Seq_MEFs_Mouse0.89255866
105KDM2B_26808549_Chip-Seq_JURKAT_Human0.89171783
106CBX2_27304074_Chip-Seq_ESCs_Mouse0.89041381
107SMAD_19615063_ChIP-ChIP_OVARY_Human0.88738130
108TCF7_22412390_ChIP-Seq_EML_Mouse0.88519382
109SMAD4_21741376_ChIP-Seq_HESCs_Human0.88486849
110TAF15_26573619_Chip-Seq_HEK293_Human0.88069181
111ZNF217_24962896_ChIP-Seq_MCF-7_Human0.87557387
112PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.87308038
113KLF4_19829295_ChIP-Seq_ESCs_Human0.87014523
114SMC3_22415368_ChIP-Seq_MEFs_Mouse0.86803137
115SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85668603
116ARNT_22903824_ChIP-Seq_MCF-7_Human0.85474510
117LXR_22292898_ChIP-Seq_THP-1_Human0.85167763
118KDM2B_26808549_Chip-Seq_DND41_Human0.84804689
119SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.84620599
120SMAD3_21741376_ChIP-Seq_HESCs_Human0.84045927
121VDR_21846776_ChIP-Seq_THP-1_Human0.83986996
122MYC_27129775_Chip-Seq_CORNEA_Mouse0.83765861
123SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.83627486
124OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.83617463
125TP53_22127205_ChIP-Seq_IMR90_Human0.83339090
126SA1_27219007_Chip-Seq_Bcells_Human0.82697741
127AHR_22903824_ChIP-Seq_MCF-7_Human0.81442982
128STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.81428938
129SMC4_20622854_ChIP-Seq_HELA_Human0.81165126
130DPY_21335234_ChIP-Seq_ESCs_Mouse0.80679713
131NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.80441452
132RNF2_27304074_Chip-Seq_NSC_Mouse0.79584035
133TP53_16413492_ChIP-PET_HCT116_Human0.79449371
134TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.79373404
135OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.77667827
136RXR_22108803_ChIP-Seq_LS180_Human0.77315136
137P300_19829295_ChIP-Seq_ESCs_Human0.77211074
138OCT4_19829295_ChIP-Seq_ESCs_Human0.77186692
139CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75817874
140TOP2B_26459242_ChIP-Seq_MCF-7_Human0.75506653

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.11174515
2MP0003635_abnormal_synaptic_transmissio4.45001925
3MP0003880_abnormal_central_pattern4.22092320
4MP0009046_muscle_twitch3.74119078
5MP0004270_analgesia3.63692404
6MP0009745_abnormal_behavioral_response3.54087575
7MP0002063_abnormal_learning/memory/cond3.40789278
8MP0002064_seizures3.29454095
9MP0005423_abnormal_somatic_nervous3.26691391
10MP0002822_catalepsy2.93798193
11MP0001968_abnormal_touch/_nociception2.89115968
12MP0002572_abnormal_emotion/affect_behav2.84397352
13MP0002272_abnormal_nervous_system2.76363294
14MP0001486_abnormal_startle_reflex2.74260627
15MP0002734_abnormal_mechanical_nocicepti2.64173354
16MP0008569_lethality_at_weaning2.54699165
17MP0001501_abnormal_sleep_pattern2.23701596
18MP0001440_abnormal_grooming_behavior2.19368419
19MP0002736_abnormal_nociception_after2.12577126
20MP0002067_abnormal_sensory_capabilities2.06367077
21MP0002735_abnormal_chemical_nociception1.96019035
22MP0002733_abnormal_thermal_nociception1.95445331
23MP0002184_abnormal_innervation1.95386937
24MP0001970_abnormal_pain_threshold1.93021482
25MP0003329_amyloid_beta_deposits1.90823059
26MP0003705_abnormal_hypodermis_morpholog1.89486603
27MP0004811_abnormal_neuron_physiology1.89154069
28MP0002557_abnormal_social/conspecific_i1.85816383
29MP0003879_abnormal_hair_cell1.80742082
30MP0004858_abnormal_nervous_system1.80477251
31MP0005386_behavior/neurological_phenoty1.78697210
32MP0004924_abnormal_behavior1.78697210
33MP0002909_abnormal_adrenal_gland1.78333690
34MP0009780_abnormal_chondrocyte_physiolo1.72537685
35MP0004885_abnormal_endolymph1.70027234
36MP0000778_abnormal_nervous_system1.67203570
37MP0000955_abnormal_spinal_cord1.65047648
38MP0002066_abnormal_motor_capabilities/c1.52032962
39MP0001984_abnormal_olfaction1.50498799
40MP0008438_abnormal_cutaneous_collagen1.49832236
41MP0004145_abnormal_muscle_electrophysio1.46837881
42MP0003633_abnormal_nervous_system1.45690510
43MP0002882_abnormal_neuron_morphology1.44875589
44MP0004142_abnormal_muscle_tone1.44010246
45MP0001348_abnormal_lacrimal_gland1.42220807
46MP0001986_abnormal_taste_sensitivity1.34516078
47MP0005646_abnormal_pituitary_gland1.30273882
48MP0003631_nervous_system_phenotype1.25459095
49MP0001502_abnormal_circadian_rhythm1.23446640
50MP0001958_emphysema1.22513600
51MP0002152_abnormal_brain_morphology1.18648831
52MP0003787_abnormal_imprinting1.16827648
53MP0005645_abnormal_hypothalamus_physiol1.15870716
54MP0003123_paternal_imprinting1.12226758
55MP0004742_abnormal_vestibular_system1.12070821
56MP0000920_abnormal_myelination1.06795472
57MP0003075_altered_response_to1.04163881
58MP0008961_abnormal_basal_metabolism1.03843294
59MP0000751_myopathy1.02609682
60MP0002229_neurodegeneration1.02540957
61MP0003632_abnormal_nervous_system1.02349979
62MP0008872_abnormal_physiological_respon1.01883410
63MP0002249_abnormal_larynx_morphology1.00624708
64MP0005257_abnormal_intraocular_pressure0.99959057
65MP0003690_abnormal_glial_cell0.97485500
66MP0005171_absent_coat_pigmentation0.96937938
67MP0008874_decreased_physiological_sensi0.96324128
68MP0003279_aneurysm0.95354163
69MP0005503_abnormal_tendon_morphology0.95344988
70MP0006276_abnormal_autonomic_nervous0.94202954
71MP0002069_abnormal_eating/drinking_beha0.93855176
72MP0003283_abnormal_digestive_organ0.92548242
73MP0001177_atelectasis0.91210345
74MP0000569_abnormal_digit_pigmentation0.88571160
75MP0000013_abnormal_adipose_tissue0.88108478
76MP0000534_abnormal_ureter_morphology0.87519273
77MP0001905_abnormal_dopamine_level0.86795953
78MP0003634_abnormal_glial_cell0.86268779
79MP0000604_amyloidosis0.86237770
80MP0005551_abnormal_eye_electrophysiolog0.86063778
81MP0004510_myositis0.84897620
82MP0004130_abnormal_muscle_cell0.80753979
83MP0004085_abnormal_heartbeat0.80124351
84MP0001529_abnormal_vocalization0.79113346
85MP0001485_abnormal_pinna_reflex0.77443569
86MP0001188_hyperpigmentation0.76258035
87MP0010386_abnormal_urinary_bladder0.75345470
88MP0003137_abnormal_impulse_conducting0.75233069
89MP0001963_abnormal_hearing_physiology0.74418774
90MP0005167_abnormal_blood-brain_barrier0.74136550
91MP0002638_abnormal_pupillary_reflex0.73099827
92MP0005623_abnormal_meninges_morphology0.72882378
93MP0005535_abnormal_body_temperature0.70776726
94MP0005499_abnormal_olfactory_system0.70772546
95MP0005394_taste/olfaction_phenotype0.70772546
96MP0002752_abnormal_somatic_nervous0.70086977
97MP0002090_abnormal_vision0.69390394
98MP0003122_maternal_imprinting0.69255422
99MP0000747_muscle_weakness0.66744111
100MP0001346_abnormal_lacrimal_gland0.65181423
101MP0003385_abnormal_body_wall0.65106345
102MP0004215_abnormal_myocardial_fiber0.64737561
103MP0000631_abnormal_neuroendocrine_gland0.63631311
104MP0003942_abnormal_urinary_system0.62772001
105MP0010769_abnormal_survival0.62451201
106MP0002089_abnormal_postnatal_growth/wei0.61939498
107MP0004233_abnormal_muscle_weight0.61390718
108MP0001299_abnormal_eye_distance/0.61275590
109MP0003861_abnormal_nervous_system0.59649221
110MP0010768_mortality/aging0.58959785
111MP0000026_abnormal_inner_ear0.58774996
112MP0000003_abnormal_adipose_tissue0.58513072
113MP0001849_ear_inflammation0.58467584
114MP0004043_abnormal_pH_regulation0.58104681
115MP0003172_abnormal_lysosome_physiology0.58010834
116MP0002082_postnatal_lethality0.57550098
117MP0010770_preweaning_lethality0.57550098
118MP0002081_perinatal_lethality0.55800175
119MP0002896_abnormal_bone_mineralization0.55606820
120MP0005410_abnormal_fertilization0.53836613
121MP0004484_altered_response_of0.53434587
122MP0005409_darkened_coat_color0.53159691
123MP0003956_abnormal_body_size0.53140636
124MP0002295_abnormal_pulmonary_circulatio0.52520185
125MP0003938_abnormal_ear_development0.51938344
126MP0000681_abnormal_thyroid_gland0.51794432
127MP0001943_abnormal_respiration0.51740299

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.24903164
2Focal motor seizures (HP:0011153)6.68730292
3Visual hallucinations (HP:0002367)5.74851079
4Focal seizures (HP:0007359)5.65772616
5Action tremor (HP:0002345)5.20526694
6Progressive cerebellar ataxia (HP:0002073)5.11821387
7Epileptic encephalopathy (HP:0200134)4.31483311
8Febrile seizures (HP:0002373)4.20655655
9Atonic seizures (HP:0010819)4.18850924
10Gaze-evoked nystagmus (HP:0000640)4.10972742
11Supranuclear gaze palsy (HP:0000605)3.87426512
12Absence seizures (HP:0002121)3.77977760
13Broad-based gait (HP:0002136)3.76042563
14Poor eye contact (HP:0000817)3.71929712
15Dysdiadochokinesis (HP:0002075)3.67538066
16Turricephaly (HP:0000262)3.66486163
17Ankle clonus (HP:0011448)3.61645162
18Genetic anticipation (HP:0003743)3.58240311
19Generalized tonic-clonic seizures (HP:0002069)3.56885158
20Scanning speech (HP:0002168)3.55343385
21Impaired smooth pursuit (HP:0007772)3.53342198
22Depression (HP:0000716)3.51164186
23Dysmetria (HP:0001310)3.49795468
24Hemiplegia (HP:0002301)3.40370015
25Mutism (HP:0002300)3.36395202
26Dialeptic seizures (HP:0011146)3.35486603
27Intention tremor (HP:0002080)3.35335297
28Impaired vibration sensation in the lower limbs (HP:0002166)3.34698020
29Abnormal social behavior (HP:0012433)3.34332518
30Impaired social interactions (HP:0000735)3.34332518
31Dysmetric saccades (HP:0000641)3.34231963
32Abnormality of the lower motor neuron (HP:0002366)3.23055421
33Truncal ataxia (HP:0002078)3.22462141
34Protrusio acetabuli (HP:0003179)3.20857550
35Abnormality of ocular smooth pursuit (HP:0000617)3.18247974
36Postural instability (HP:0002172)3.15777627
37Annular pancreas (HP:0001734)3.08682092
38Urinary bladder sphincter dysfunction (HP:0002839)3.08089065
39Anxiety (HP:0000739)3.07589824
40Shallow orbits (HP:0000586)2.95793780
41Hemiparesis (HP:0001269)2.94610738
42Abnormal eating behavior (HP:0100738)2.93801957
43Abnormality of binocular vision (HP:0011514)2.92772265
44Diplopia (HP:0000651)2.92772265
45Papilledema (HP:0001085)2.91225836
46Ventricular fibrillation (HP:0001663)2.89924670
47Premature rupture of membranes (HP:0001788)2.77854846
48Torticollis (HP:0000473)2.77747774
49Spastic gait (HP:0002064)2.76379301
50Urinary urgency (HP:0000012)2.74158416
51Upper limb amyotrophy (HP:0009129)2.67996072
52Distal upper limb amyotrophy (HP:0007149)2.67996072
53Stereotypic behavior (HP:0000733)2.64086120
54Pointed chin (HP:0000307)2.62925446
55Status epilepticus (HP:0002133)2.58659560
56Akinesia (HP:0002304)2.56376752
57Focal dystonia (HP:0004373)2.55254424
58Coronal craniosynostosis (HP:0004440)2.51810776
59Hypoventilation (HP:0002791)2.51695020
60Aplasia involving bones of the upper limbs (HP:0009823)2.51665231
61Aplasia of the phalanges of the hand (HP:0009802)2.51665231
62Aplasia involving bones of the extremities (HP:0009825)2.51665231
63Bundle branch block (HP:0011710)2.49918544
64Amblyopia (HP:0000646)2.48105780
65Hand muscle atrophy (HP:0009130)2.46014208
66Abnormality of saccadic eye movements (HP:0000570)2.44328696
67Megalencephaly (HP:0001355)2.44040513
68Bradykinesia (HP:0002067)2.43262139
69Broad metatarsal (HP:0001783)2.43026882
70Neurofibrillary tangles (HP:0002185)2.42769014
71Insomnia (HP:0100785)2.39487921
72Hyperacusis (HP:0010780)2.36038515
73Amyotrophic lateral sclerosis (HP:0007354)2.33968733
74Tetraplegia (HP:0002445)2.31813958
75Abnormality of the corticospinal tract (HP:0002492)2.28389384
76Impaired vibratory sensation (HP:0002495)2.27164042
77Progressive inability to walk (HP:0002505)2.26997144
78Drooling (HP:0002307)2.26135203
79Excessive salivation (HP:0003781)2.26135203
80Neuronal loss in central nervous system (HP:0002529)2.25966212
81Craniofacial dystonia (HP:0012179)2.24210035
82Agitation (HP:0000713)2.22571249
83Thoracolumbar scoliosis (HP:0002944)2.20999515
84Cerebral inclusion bodies (HP:0100314)2.19741432
85Ulnar bowing (HP:0003031)2.19368510
86Lower limb asymmetry (HP:0100559)2.14407309
87Sleep apnea (HP:0010535)2.14113443
88Clonus (HP:0002169)2.13390826
89Bladder diverticulum (HP:0000015)2.13268491
90Bowel diverticulosis (HP:0005222)2.12251576
91Obstructive sleep apnea (HP:0002870)2.11644636
92Fetal akinesia sequence (HP:0001989)2.10242438
93Delusions (HP:0000746)2.08566009
94Gait ataxia (HP:0002066)2.08046783
95Neonatal short-limb short stature (HP:0008921)2.06293282
96Lower limb muscle weakness (HP:0007340)2.05931988
97Epileptiform EEG discharges (HP:0011182)2.01171210
98Cerebral aneurysm (HP:0004944)2.00343734
99Absent speech (HP:0001344)1.99592693
100Postural tremor (HP:0002174)1.98925305
101Limb dystonia (HP:0002451)1.98906213
102Apathy (HP:0000741)1.98133932
103Incomplete penetrance (HP:0003829)1.98066781
104EEG with generalized epileptiform discharges (HP:0011198)1.97651115
105Limb ataxia (HP:0002070)1.97138303
106Bronchomalacia (HP:0002780)1.96809451
107Vascular tortuosity (HP:0004948)1.95525918
108Spinal canal stenosis (HP:0003416)1.94490975
109Hyperventilation (HP:0002883)1.94110237
110Abnormal EKG (HP:0003115)1.93300155
111Insidious onset (HP:0003587)1.92481392
112Termporal pattern (HP:0011008)1.92481392
113Hypsarrhythmia (HP:0002521)1.92343228
114Cerebral hypomyelination (HP:0006808)1.91778260
115Mitral regurgitation (HP:0001653)1.90669389
116Resting tremor (HP:0002322)1.90310628
117Inappropriate behavior (HP:0000719)1.88535907
118Genu recurvatum (HP:0002816)1.87734769
119Lower limb amyotrophy (HP:0007210)1.86409742
120Generalized myoclonic seizures (HP:0002123)1.85505024
121Mild short stature (HP:0003502)1.84222042
122Increased variability in muscle fiber diameter (HP:0003557)1.83700457
123Rigidity (HP:0002063)1.81201960
124Horizontal nystagmus (HP:0000666)1.80999920
125Psychosis (HP:0000709)1.79425040
126Ankyloglossia (HP:0010296)1.78839260
127Arterial tortuosity (HP:0005116)1.77771048
128Spinal rigidity (HP:0003306)1.77102350
129Type 1 muscle fiber predominance (HP:0003803)1.76331843
130Diminished motivation (HP:0000745)1.73027179
131Myotonia (HP:0002486)1.72377739
132Aqueductal stenosis (HP:0002410)1.72024721
133Spastic tetraparesis (HP:0001285)1.70923033
134Slow progression (HP:0003677)1.70293063
135Fragile skin (HP:0001030)1.69642985
136Rapidly progressive (HP:0003678)1.68239771
137Thin bony cortex (HP:0002753)1.65292814
138Renal duplication (HP:0000075)1.63943773

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.11886052
2NTRK34.08322033
3MAP3K93.93663898
4MARK13.19489479
5DAPK22.88576200
6MINK12.69673335
7MAP3K42.57087731
8PAK62.55759475
9CAMKK12.53233480
10NTRK22.31538999
11PRKD32.25530584
12KSR22.05352796
13CAMKK22.01066539
14MAP2K71.95298068
15STK381.88160163
16SIK21.76660299
17NTRK11.70734325
18SIK11.64724398
19CDK191.63209904
20MAP2K41.62503265
21CDK51.61219598
22RIPK11.61150778
23RIPK41.57568173
24TYRO31.50578398
25TNIK1.48825630
26DAPK11.46761802
27TAOK11.39137755
28KSR11.38649784
29PRPF4B1.37018639
30UHMK11.23813854
31PRKCG1.22303664
32ALK1.21628154
33FES1.20168249
34MAPK131.18869083
35STK111.17960041
36CAMK11.12321850
37MARK21.11722889
38MAP3K121.11691850
39ARAF1.11245849
40PRKCH1.10836501
41GRK51.07291372
42PHKG11.06933043
43PHKG21.06933043
44WNK11.04335004
45MAP3K131.03584403
46CDK151.01869001
47PINK11.00730434
48PLK20.99558477
49CDK180.99432563
50CAMK1D0.99267751
51MAP3K20.93606425
52PNCK0.93369536
53TESK10.92933741
54CDK140.91518580
55SGK4940.91006467
56SGK2230.91006467
57CDK11A0.89830812
58PTK20.88172340
59BRAF0.87956278
60RET0.85923427
61LATS20.85029338
62MAP3K110.84362511
63LIMK10.79198743
64PDK10.78361614
65SGK30.77491066
66CAMK2A0.76175863
67DYRK1A0.75838356
68EPHB20.75358056
69PAK30.74158735
70RAF10.73557686
71SCYL20.73222554
72SGK10.71668403
73SGK20.70444980
74TNK20.68500489
75CAMK2B0.67691945
76CAMK40.67669778
77CAMK1G0.67603050
78PDPK10.67402729
79OXSR10.64503638
80PKN10.62964017
81DDR20.62894798
82LMTK20.62320291
83CSNK1G20.60832230
84DYRK1B0.57737122
85CDC42BPA0.57600057
86RPS6KA30.56195596
87MOS0.55760827
88DAPK30.55345790
89MAP3K70.54421393
90FYN0.54290442
91NEK60.52721721
92MAP3K10.52098434
93TTN0.51861122
94PRKCZ0.50821598
95MAP3K60.50793181
96ICK0.50690431
97TRIB30.50406775
98PAK20.49822056
99NEK10.49773563
100CASK0.49723841
101BMX0.48024807
102PRKG20.47751066
103CAMK2G0.46298340
104MAPK150.46006417
105MAPK100.45653848
106BRSK10.45492806
107PTK2B0.44330782
108TAOK20.39461474
109ROCK10.39388961
110MAP2K60.39150449
111SMG10.38621096
112ABL20.37087307
113PRKD10.36026247
114CAMK2D0.35605287
115RPS6KA20.35193683
116PRKCB0.32561630
117MAPK80.32483596
118MAPK120.31214068
119PDGFRA0.29880569
120DMPK0.29821702
121ROCK20.29568107
122BMPR20.29542248
123FGFR20.29523980
124PRKD20.29102875

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.62605887
2Synaptic vesicle cycle_Homo sapiens_hsa047213.10845601
3Olfactory transduction_Homo sapiens_hsa047402.79537264
4Glutamatergic synapse_Homo sapiens_hsa047242.77906546
5Circadian entrainment_Homo sapiens_hsa047132.77623102
6Long-term potentiation_Homo sapiens_hsa047202.73077528
7GABAergic synapse_Homo sapiens_hsa047272.67554392
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.57889255
9Morphine addiction_Homo sapiens_hsa050322.51806734
10Amphetamine addiction_Homo sapiens_hsa050312.38384395
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30171767
12Salivary secretion_Homo sapiens_hsa049702.22649106
13Dopaminergic synapse_Homo sapiens_hsa047282.10500672
14Gastric acid secretion_Homo sapiens_hsa049711.96723887
15Cholinergic synapse_Homo sapiens_hsa047251.95562527
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.93617800
17Insulin secretion_Homo sapiens_hsa049111.92767195
18Long-term depression_Homo sapiens_hsa047301.85405394
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.77177063
20Taste transduction_Homo sapiens_hsa047421.73437825
21Cocaine addiction_Homo sapiens_hsa050301.68779034
22Oxytocin signaling pathway_Homo sapiens_hsa049211.68681786
23Renin secretion_Homo sapiens_hsa049241.55535465
24Calcium signaling pathway_Homo sapiens_hsa040201.54684731
25Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.52761957
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.50622137
27Vitamin B6 metabolism_Homo sapiens_hsa007501.48579651
28GnRH signaling pathway_Homo sapiens_hsa049121.41438580
29Serotonergic synapse_Homo sapiens_hsa047261.36745112
30Gap junction_Homo sapiens_hsa045401.35912621
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.35770708
32Type II diabetes mellitus_Homo sapiens_hsa049301.33750791
33cAMP signaling pathway_Homo sapiens_hsa040241.32851562
34Nitrogen metabolism_Homo sapiens_hsa009101.32766428
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.31397140
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27800297
37Estrogen signaling pathway_Homo sapiens_hsa049151.23017780
38Glioma_Homo sapiens_hsa052141.13930307
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.08591472
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07738765
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.02791266
42Phospholipase D signaling pathway_Homo sapiens_hsa040721.01321186
43Axon guidance_Homo sapiens_hsa043600.99220006
44ErbB signaling pathway_Homo sapiens_hsa040120.98394064
45Melanogenesis_Homo sapiens_hsa049160.97504541
46Pancreatic secretion_Homo sapiens_hsa049720.97251606
47Oocyte meiosis_Homo sapiens_hsa041140.90274103
48Cardiac muscle contraction_Homo sapiens_hsa042600.89010372
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.88812008
50Carbohydrate digestion and absorption_Homo sapiens_hsa049730.88640042
51Thyroid hormone synthesis_Homo sapiens_hsa049180.86987397
52Dorso-ventral axis formation_Homo sapiens_hsa043200.81622076
53Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.81055414
54Dilated cardiomyopathy_Homo sapiens_hsa054140.78953017
55Hippo signaling pathway_Homo sapiens_hsa043900.78531866
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78203684
57Collecting duct acid secretion_Homo sapiens_hsa049660.76104448
58Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.75987215
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.75229420
60Sulfur relay system_Homo sapiens_hsa041220.73498127
61Choline metabolism in cancer_Homo sapiens_hsa052310.73491711
62MAPK signaling pathway_Homo sapiens_hsa040100.73335488
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72776076
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.72700588
65Phototransduction_Homo sapiens_hsa047440.68565479
66VEGF signaling pathway_Homo sapiens_hsa043700.67736667
67Hedgehog signaling pathway_Homo sapiens_hsa043400.67188807
68Focal adhesion_Homo sapiens_hsa045100.65845400
69Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65294947
70ECM-receptor interaction_Homo sapiens_hsa045120.64736776
71Bile secretion_Homo sapiens_hsa049760.64606563
72mTOR signaling pathway_Homo sapiens_hsa041500.62973336
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62706800
74Inositol phosphate metabolism_Homo sapiens_hsa005620.61993210
75Endocytosis_Homo sapiens_hsa041440.60892331
76Alcoholism_Homo sapiens_hsa050340.60513727
77Rap1 signaling pathway_Homo sapiens_hsa040150.57739147
78Non-small cell lung cancer_Homo sapiens_hsa052230.57688569
79Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57497341
80Notch signaling pathway_Homo sapiens_hsa043300.55901969
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55731018
82Sphingolipid signaling pathway_Homo sapiens_hsa040710.54327393
83Basal cell carcinoma_Homo sapiens_hsa052170.53656592
84AMPK signaling pathway_Homo sapiens_hsa041520.53613175
85Endometrial cancer_Homo sapiens_hsa052130.53407456
86Glucagon signaling pathway_Homo sapiens_hsa049220.53366545
87Ras signaling pathway_Homo sapiens_hsa040140.52022155
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.51624139
89Vibrio cholerae infection_Homo sapiens_hsa051100.50067632
90Renal cell carcinoma_Homo sapiens_hsa052110.47366837
91Protein digestion and absorption_Homo sapiens_hsa049740.47228991
92Tight junction_Homo sapiens_hsa045300.45232841
93Circadian rhythm_Homo sapiens_hsa047100.44688434
94Chemokine signaling pathway_Homo sapiens_hsa040620.44680797
95Proteoglycans in cancer_Homo sapiens_hsa052050.44482982
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44429406
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.43906229
98Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42938300
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39582323
100Insulin signaling pathway_Homo sapiens_hsa049100.39154403
101AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.38508523
102Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37215303
103Amoebiasis_Homo sapiens_hsa051460.36670003
104Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.35995025
105Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35897586
106Regulation of actin cytoskeleton_Homo sapiens_hsa048100.35500917
107Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35253092
108Wnt signaling pathway_Homo sapiens_hsa043100.35103952
109Platelet activation_Homo sapiens_hsa046110.34658232
110Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32565848
111Ovarian steroidogenesis_Homo sapiens_hsa049130.31667901
112Type I diabetes mellitus_Homo sapiens_hsa049400.30911471
113Prion diseases_Homo sapiens_hsa050200.26848782
114SNARE interactions in vesicular transport_Homo sapiens_hsa041300.26737638
115Central carbon metabolism in cancer_Homo sapiens_hsa052300.26324821
116Colorectal cancer_Homo sapiens_hsa052100.25089791
117Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.23765699
118Glycerophospholipid metabolism_Homo sapiens_hsa005640.23379949

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