ABCG4

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: The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.45579929
2synaptic vesicle maturation (GO:0016188)6.08020441
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.71536276
4locomotory exploration behavior (GO:0035641)5.70376446
5synaptic vesicle exocytosis (GO:0016079)5.67227860
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.59937221
7vocalization behavior (GO:0071625)5.59386707
8glutamate secretion (GO:0014047)5.28342936
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.25071893
10protein localization to synapse (GO:0035418)5.13758705
11regulation of synaptic vesicle exocytosis (GO:2000300)5.13194040
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.94341973
13regulation of glutamate receptor signaling pathway (GO:1900449)4.89129989
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.78541988
15neurotransmitter secretion (GO:0007269)4.65181275
16neuron cell-cell adhesion (GO:0007158)4.61958943
17L-amino acid import (GO:0043092)4.59722719
18regulation of synaptic vesicle transport (GO:1902803)4.55746024
19cellular potassium ion homeostasis (GO:0030007)4.55585329
20neuronal action potential propagation (GO:0019227)4.49862403
21exploration behavior (GO:0035640)4.41885919
22glutamate receptor signaling pathway (GO:0007215)4.33821002
23gamma-aminobutyric acid transport (GO:0015812)4.30680370
24synaptic transmission, glutamatergic (GO:0035249)4.27606423
25regulation of neuronal synaptic plasticity (GO:0048168)4.26502793
26regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.26050146
27sodium ion export (GO:0071436)4.24036456
28layer formation in cerebral cortex (GO:0021819)4.23750365
29regulation of long-term neuronal synaptic plasticity (GO:0048169)4.21427581
30neurotransmitter-gated ion channel clustering (GO:0072578)4.18219082
31neuron-neuron synaptic transmission (GO:0007270)4.14274199
32amino acid import (GO:0043090)4.13327752
33regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.08732676
34positive regulation of synapse maturation (GO:0090129)3.96314624
35cerebellar Purkinje cell differentiation (GO:0021702)3.95934856
36regulation of synapse structural plasticity (GO:0051823)3.93163845
37positive regulation of dendritic spine morphogenesis (GO:0061003)3.91335043
38neurotransmitter transport (GO:0006836)3.89438750
39neuronal ion channel clustering (GO:0045161)3.89337966
40long-term memory (GO:0007616)3.88797537
41positive regulation of membrane potential (GO:0045838)3.87513667
42positive regulation of dendritic spine development (GO:0060999)3.86720117
43regulation of synapse maturation (GO:0090128)3.83970504
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.83736963
45proline transport (GO:0015824)3.83252427
46dendritic spine morphogenesis (GO:0060997)3.72278011
47gamma-aminobutyric acid signaling pathway (GO:0007214)3.71588649
48regulation of postsynaptic membrane potential (GO:0060078)3.70182096
49synaptic vesicle endocytosis (GO:0048488)3.70021295
50positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.68245542
51positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.66609883
52membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.66590849
53central nervous system myelination (GO:0022010)3.66544117
54axon ensheathment in central nervous system (GO:0032291)3.66544117
55cellular sodium ion homeostasis (GO:0006883)3.65569523
56regulation of neurotransmitter secretion (GO:0046928)3.61787546
57positive regulation of neurotransmitter transport (GO:0051590)3.55953035
58neuromuscular process controlling posture (GO:0050884)3.55872043
59G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.55647599
60long-term synaptic potentiation (GO:0060291)3.53498621
61cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.53344439
62negative regulation of synaptic transmission, GABAergic (GO:0032229)3.52339533
63regulation of neurotransmitter levels (GO:0001505)3.50921043
64transmission of nerve impulse (GO:0019226)3.48551178
65regulation of synaptic plasticity (GO:0048167)3.48007996
66dendritic spine organization (GO:0097061)3.45061238
67neuron recognition (GO:0008038)3.44138430
68regulation of synaptic transmission, glutamatergic (GO:0051966)3.41057771
69positive regulation of neurotransmitter secretion (GO:0001956)3.39455948
70membrane hyperpolarization (GO:0060081)3.38150765
71positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.37190983
72cell communication by electrical coupling (GO:0010644)3.36854328
73activation of protein kinase A activity (GO:0034199)3.36618302
74regulation of neurotransmitter transport (GO:0051588)3.36451629
75presynaptic membrane assembly (GO:0097105)3.36380547
76presynaptic membrane organization (GO:0097090)3.35800979
77negative regulation of dendrite morphogenesis (GO:0050774)3.34500876
78response to histamine (GO:0034776)3.34218578
79neuromuscular process controlling balance (GO:0050885)3.33409181
80postsynaptic membrane organization (GO:0001941)3.33216778
81glycine transport (GO:0015816)3.32862106
82regulation of vesicle fusion (GO:0031338)3.31899270
83regulation of ARF protein signal transduction (GO:0032012)3.30115864
84regulation of dendritic spine development (GO:0060998)3.28935680
85membrane depolarization during action potential (GO:0086010)3.27458336
86chemosensory behavior (GO:0007635)3.25552891
87cell differentiation in hindbrain (GO:0021533)3.24674892
88positive regulation of synaptic transmission, GABAergic (GO:0032230)3.24434871
89response to auditory stimulus (GO:0010996)3.24230552
90regulation of dendritic spine morphogenesis (GO:0061001)3.22828562
91membrane depolarization (GO:0051899)3.22237366
92synaptic vesicle transport (GO:0048489)3.19211658
93establishment of synaptic vesicle localization (GO:0097480)3.19211658
94auditory behavior (GO:0031223)3.19106489
95regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.18369413
96cerebellar granule cell differentiation (GO:0021707)3.16772976
97acidic amino acid transport (GO:0015800)3.15480326
98behavioral defense response (GO:0002209)3.14335419
99behavioral fear response (GO:0001662)3.14335419
100axonal fasciculation (GO:0007413)3.13490002
101positive regulation of synaptic transmission (GO:0050806)3.12581701
102potassium ion homeostasis (GO:0055075)3.12527839
103regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.11810965
104prepulse inhibition (GO:0060134)3.10775204
105innervation (GO:0060384)3.10631416
106regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.09377838
107regulation of clathrin-mediated endocytosis (GO:2000369)3.09267975
108cell communication involved in cardiac conduction (GO:0086065)3.07502065
109learning (GO:0007612)3.06939171
110negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.05807300
111regulation of voltage-gated calcium channel activity (GO:1901385)3.05551856
112cytoskeletal anchoring at plasma membrane (GO:0007016)3.05070108
113social behavior (GO:0035176)3.05000150
114intraspecies interaction between organisms (GO:0051703)3.05000150
115synaptic transmission (GO:0007268)3.04842596
116neuromuscular process (GO:0050905)3.04525201
117synapse assembly (GO:0007416)3.02602095
118potassium ion import (GO:0010107)3.01295531
119mating behavior (GO:0007617)3.01144730
120regulation of synaptic transmission (GO:0050804)3.00917179
121phosphorelay signal transduction system (GO:0000160)3.00568864
122neuromuscular synaptic transmission (GO:0007274)3.00457020
123adult walking behavior (GO:0007628)2.99638286
124fear response (GO:0042596)2.99085231
125behavioral response to cocaine (GO:0048148)2.99007611
126dendrite morphogenesis (GO:0048813)2.97864947

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.95013314
2GBX2_23144817_ChIP-Seq_PC3_Human3.54567755
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.27480053
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.16060796
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.16053802
6REST_21632747_ChIP-Seq_MESCs_Mouse3.05635884
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.81331561
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.74575474
9* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.73938339
10* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.73938339
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.64373496
12DROSHA_22980978_ChIP-Seq_HELA_Human2.63649908
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.62638255
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.62341250
15* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.58547402
16REST_18959480_ChIP-ChIP_MESCs_Mouse2.55762146
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.50615718
18* EZH2_27304074_Chip-Seq_ESCs_Mouse2.45408852
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.38419358
20CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.35742644
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.34201426
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.32877767
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.31832196
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.26841395
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.22628208
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.20358184
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.14736444
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.05137579
29THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.01678954
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.99770594
31AR_21572438_ChIP-Seq_LNCaP_Human1.98947839
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.84560745
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.77705423
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.69063467
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67281999
36SMAD4_21799915_ChIP-Seq_A2780_Human1.61381304
37TAF15_26573619_Chip-Seq_HEK293_Human1.51638869
38ZNF274_21170338_ChIP-Seq_K562_Hela1.48978376
39RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.41868364
40RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.39488406
41DNAJC2_21179169_ChIP-ChIP_NT2_Human1.37650803
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.34704788
43RING1B_27294783_Chip-Seq_ESCs_Mouse1.33571913
44SOX2_21211035_ChIP-Seq_LN229_Gbm1.30470984
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.30336650
46ZFP281_27345836_Chip-Seq_ESCs_Mouse1.30143880
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29480926
48ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.27477313
49GATA1_26923725_Chip-Seq_HPCs_Mouse1.26505385
50AR_19668381_ChIP-Seq_PC3_Human1.26064842
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25963300
52P300_19829295_ChIP-Seq_ESCs_Human1.25610424
53GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25111764
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23057184
55ZFP57_27257070_Chip-Seq_ESCs_Mouse1.22407427
56AR_25329375_ChIP-Seq_VCAP_Human1.21328354
57SMAD3_21741376_ChIP-Seq_EPCs_Human1.20409097
58* KDM2B_26808549_Chip-Seq_K562_Human1.20004954
59STAT3_23295773_ChIP-Seq_U87_Human1.16146071
60TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15747041
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15136918
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15068237
63IGF1R_20145208_ChIP-Seq_DFB_Human1.14719145
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.14032374
65* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.13174879
66OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.11260659
67WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10821282
68RING1B_27294783_Chip-Seq_NPCs_Mouse1.07536736
69TP53_20018659_ChIP-ChIP_R1E_Mouse1.07159334
70BMI1_23680149_ChIP-Seq_NPCS_Mouse1.07059625
71SMAD_19615063_ChIP-ChIP_OVARY_Human1.06295765
72GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06261478
73YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05886902
74TCF4_23295773_ChIP-Seq_U87_Human1.04185940
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04055779
76SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03917764
77CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.02971958
78OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01732558
79CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01163815
80ZFP281_18757296_ChIP-ChIP_E14_Mouse1.00540726
81* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00318671
82PIAS1_25552417_ChIP-Seq_VCAP_Human0.99974537
83SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99476557
84ESR2_21235772_ChIP-Seq_MCF-7_Human0.99144421
85TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97898989
86TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96634660
87RNF2_27304074_Chip-Seq_NSC_Mouse0.95601239
88CTNNB1_20460455_ChIP-Seq_HCT116_Human0.95597810
89CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94844791
90SMAD3_21741376_ChIP-Seq_ESCs_Human0.94144051
91OCT4_19829295_ChIP-Seq_ESCs_Human0.93412332
92KLF4_19829295_ChIP-Seq_ESCs_Human0.92924683
93CTCF_27219007_Chip-Seq_Bcells_Human0.92668594
94* TET1_21490601_ChIP-Seq_MESCs_Mouse0.92225506
95ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.90955734
96PRDM14_20953172_ChIP-Seq_ESCs_Human0.90805327
97WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.90196359
98TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90143010
99VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90094799
100KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.89843995
101RUNX2_22187159_ChIP-Seq_PCA_Human0.89842478
102ARNT_22903824_ChIP-Seq_MCF-7_Human0.89234947
103SRY_22984422_ChIP-ChIP_TESTIS_Rat0.88947071
104POU3F2_20337985_ChIP-ChIP_501MEL_Human0.88924720
105* LXR_22292898_ChIP-Seq_THP-1_Human0.86758115
106SMAD4_21741376_ChIP-Seq_HESCs_Human0.86550367
107SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.86032273
108AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85709817
109RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.85684110
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85483501
111DPY_21335234_ChIP-Seq_ESCs_Mouse0.85440598
112AHR_22903824_ChIP-Seq_MCF-7_Human0.84624978
113CDX2_19796622_ChIP-Seq_MESCs_Mouse0.84174257
114LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83800582
115PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.83767392
116EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.83380233
117TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.83106257
118SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82808304
119SMAD3_21741376_ChIP-Seq_HESCs_Human0.82694984
120TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82591572
121POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.82591572
122RUNX1_26923725_Chip-Seq_HPCs_Mouse0.82357618
123NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81811179
124KDM2B_26808549_Chip-Seq_SUP-B15_Human0.79671950
125DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.76642103
126SMC4_20622854_ChIP-Seq_HELA_Human0.75764310
127SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.71806777

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.19672437
2MP0003880_abnormal_central_pattern4.78618470
3MP0003635_abnormal_synaptic_transmissio4.09717607
4MP0004270_analgesia3.54003898
5MP0009745_abnormal_behavioral_response3.36815500
6MP0009046_muscle_twitch3.35860495
7MP0005423_abnormal_somatic_nervous3.34108082
8MP0001968_abnormal_touch/_nociception3.23075396
9MP0002063_abnormal_learning/memory/cond3.20175394
10MP0002064_seizures3.18878744
11MP0002734_abnormal_mechanical_nocicepti2.76252508
12MP0002572_abnormal_emotion/affect_behav2.69649493
13MP0002272_abnormal_nervous_system2.67306538
14MP0002822_catalepsy2.63631330
15MP0002736_abnormal_nociception_after2.55666254
16MP0001486_abnormal_startle_reflex2.51655940
17MP0005551_abnormal_eye_electrophysiolog2.46157520
18MP0002735_abnormal_chemical_nociception2.31411032
19MP0001501_abnormal_sleep_pattern2.24778115
20MP0002067_abnormal_sensory_capabilities2.07655471
21MP0001440_abnormal_grooming_behavior2.05792573
22MP0002733_abnormal_thermal_nociception2.00146814
23MP0008569_lethality_at_weaning1.99331632
24MP0001970_abnormal_pain_threshold1.95264730
25MP0001984_abnormal_olfaction1.81515130
26MP0002184_abnormal_innervation1.80938820
27MP0003329_amyloid_beta_deposits1.80720726
28MP0009780_abnormal_chondrocyte_physiolo1.77571644
29MP0004924_abnormal_behavior1.76157318
30MP0005386_behavior/neurological_phenoty1.76157318
31MP0004811_abnormal_neuron_physiology1.73923766
32MP0004858_abnormal_nervous_system1.67806650
33MP0002557_abnormal_social/conspecific_i1.65781709
34MP0000778_abnormal_nervous_system1.63697624
35MP0006276_abnormal_autonomic_nervous1.60567096
36MP0001529_abnormal_vocalization1.59207007
37MP0002909_abnormal_adrenal_gland1.57709256
38MP0002882_abnormal_neuron_morphology1.57134009
39MP0003879_abnormal_hair_cell1.55542688
40MP0000955_abnormal_spinal_cord1.50532109
41MP0006072_abnormal_retinal_apoptosis1.48973676
42MP0005646_abnormal_pituitary_gland1.46630913
43MP0004885_abnormal_endolymph1.45332907
44MP0002066_abnormal_motor_capabilities/c1.41147198
45MP0002229_neurodegeneration1.40502681
46MP0001502_abnormal_circadian_rhythm1.38717844
47MP0004142_abnormal_muscle_tone1.38278293
48MP0000579_abnormal_nail_morphology1.37093269
49MP0001346_abnormal_lacrimal_gland1.36127217
50MP0005253_abnormal_eye_physiology1.35360104
51MP0003787_abnormal_imprinting1.34960639
52MP0004147_increased_porphyrin_level1.33463190
53MP0003122_maternal_imprinting1.29755612
54MP0003633_abnormal_nervous_system1.27544580
55MP0008872_abnormal_physiological_respon1.20532721
56MP0003656_abnormal_erythrocyte_physiolo1.17611111
57MP0001905_abnormal_dopamine_level1.17499651
58MP0002090_abnormal_vision1.14807503
59MP0005645_abnormal_hypothalamus_physiol1.14327173
60MP0003123_paternal_imprinting1.13711759
61MP0005623_abnormal_meninges_morphology1.11044889
62MP0003631_nervous_system_phenotype1.10266449
63MP0002152_abnormal_brain_morphology1.09007630
64MP0005499_abnormal_olfactory_system1.07654971
65MP0005394_taste/olfaction_phenotype1.07654971
66MP0002638_abnormal_pupillary_reflex1.06444726
67MP0002752_abnormal_somatic_nervous1.02717480
68MP0000751_myopathy1.01614154
69MP0004215_abnormal_myocardial_fiber0.97992502
70MP0001188_hyperpigmentation0.97242409
71MP0000566_synostosis0.95279189
72MP0004145_abnormal_muscle_electrophysio0.93739167
73MP0002234_abnormal_pharynx_morphology0.93673129
74MP0003634_abnormal_glial_cell0.92081312
75MP0001348_abnormal_lacrimal_gland0.90836261
76MP0002069_abnormal_eating/drinking_beha0.90232232
77MP0004742_abnormal_vestibular_system0.89425322
78MP0004233_abnormal_muscle_weight0.87344929
79MP0002653_abnormal_ependyma_morphology0.84413415
80MP0004085_abnormal_heartbeat0.84144733
81MP0005195_abnormal_posterior_eye0.82156034
82MP0001963_abnormal_hearing_physiology0.81681295
83MP0003632_abnormal_nervous_system0.80969633
84MP0010386_abnormal_urinary_bladder0.78044672
85MP0008874_decreased_physiological_sensi0.77503002
86MP0001299_abnormal_eye_distance/0.75901129
87MP0003011_delayed_dark_adaptation0.75703386
88MP0008877_abnormal_DNA_methylation0.75124460
89MP0003075_altered_response_to0.74081648
90MP0005535_abnormal_body_temperature0.74075865
91MP0000604_amyloidosis0.73881173
92MP0000631_abnormal_neuroendocrine_gland0.72786529
93MP0001485_abnormal_pinna_reflex0.71940759
94MP0003690_abnormal_glial_cell0.70675227
95MP0001177_atelectasis0.69994074
96MP0000013_abnormal_adipose_tissue0.68423246
97MP0000920_abnormal_myelination0.67708276
98MP0008961_abnormal_basal_metabolism0.65632100
99MP0003137_abnormal_impulse_conducting0.65605531
100MP0001986_abnormal_taste_sensitivity0.63783883
101MP0003283_abnormal_digestive_organ0.63748474
102MP0000026_abnormal_inner_ear0.63558828
103MP0004043_abnormal_pH_regulation0.61554283
104MP0002249_abnormal_larynx_morphology0.60275694
105MP0000569_abnormal_digit_pigmentation0.57967918
106MP0010769_abnormal_survival0.55748111
107MP0004484_altered_response_of0.54522263
108MP0002837_dystrophic_cardiac_calcinosis0.54233809
109MP0002082_postnatal_lethality0.53266536
110MP0010770_preweaning_lethality0.53266536
111MP0001943_abnormal_respiration0.52860077
112MP0010768_mortality/aging0.52661652
113MP0003646_muscle_fatigue0.52605845
114MP0003861_abnormal_nervous_system0.52583150
115MP0003121_genomic_imprinting0.52222596
116MP0010030_abnormal_orbit_morphology0.50795749
117MP0005187_abnormal_penis_morphology0.49756650
118MP0005171_absent_coat_pigmentation0.49119965
119MP0003938_abnormal_ear_development0.47845993
120MP0003956_abnormal_body_size0.46863866

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.11730707
2Myokymia (HP:0002411)6.30860508
3Focal seizures (HP:0007359)5.41905329
4Visual hallucinations (HP:0002367)5.17323191
5Epileptic encephalopathy (HP:0200134)4.96206273
6Progressive cerebellar ataxia (HP:0002073)4.62967050
7Febrile seizures (HP:0002373)4.44855521
8Atonic seizures (HP:0010819)4.37310957
9Congenital stationary night blindness (HP:0007642)4.29045537
10Absence seizures (HP:0002121)4.05521506
11Generalized tonic-clonic seizures (HP:0002069)3.86251721
12Action tremor (HP:0002345)3.84088631
13Dialeptic seizures (HP:0011146)3.68328589
14Dysdiadochokinesis (HP:0002075)3.54727579
15Supranuclear gaze palsy (HP:0000605)3.50479452
16Broad-based gait (HP:0002136)3.46636270
17Depression (HP:0000716)3.42265824
18Gaze-evoked nystagmus (HP:0000640)3.38772741
19Central scotoma (HP:0000603)3.34660111
20Truncal ataxia (HP:0002078)3.29874225
21Tetraplegia (HP:0002445)3.22725964
22Poor eye contact (HP:0000817)3.22642832
23Ankle clonus (HP:0011448)3.19901079
24Mutism (HP:0002300)3.12944539
25Abnormality of macular pigmentation (HP:0008002)3.11022626
26Anxiety (HP:0000739)3.08714092
27Impaired vibration sensation in the lower limbs (HP:0002166)3.03015737
28Impaired social interactions (HP:0000735)3.02893671
29Abnormal social behavior (HP:0012433)3.02893671
30Urinary bladder sphincter dysfunction (HP:0002839)3.00594109
31Dysmetria (HP:0001310)2.91951588
32Postural instability (HP:0002172)2.91402711
33Genetic anticipation (HP:0003743)2.86895488
34Hyperventilation (HP:0002883)2.86127141
35Bony spicule pigmentary retinopathy (HP:0007737)2.85115313
36Abnormal eating behavior (HP:0100738)2.83520106
37Cerebral hypomyelination (HP:0006808)2.82040729
38Abnormal rod and cone electroretinograms (HP:0008323)2.78642466
39Hemiparesis (HP:0001269)2.75646903
40Abnormality of binocular vision (HP:0011514)2.73279704
41Diplopia (HP:0000651)2.73279704
42Impaired smooth pursuit (HP:0007772)2.69971113
43Insomnia (HP:0100785)2.68581688
44Obstructive sleep apnea (HP:0002870)2.67175433
45Progressive inability to walk (HP:0002505)2.66108868
46Hemiplegia (HP:0002301)2.63385227
47Bradykinesia (HP:0002067)2.60124109
48Scotoma (HP:0000575)2.58779367
49Abnormality of the lower motor neuron (HP:0002366)2.55291287
50Amblyopia (HP:0000646)2.55121321
51Dysmetric saccades (HP:0000641)2.52982246
52Scanning speech (HP:0002168)2.51375645
53Clonus (HP:0002169)2.50664592
54Excessive salivation (HP:0003781)2.50643008
55Drooling (HP:0002307)2.50643008
56Akinesia (HP:0002304)2.45687361
57Abnormality of ocular smooth pursuit (HP:0000617)2.44850352
58Absent rod-and cone-mediated responses on ERG (HP:0007688)2.44467274
59Spastic gait (HP:0002064)2.43490877
60Torticollis (HP:0000473)2.41695615
61Status epilepticus (HP:0002133)2.36330549
62Urinary urgency (HP:0000012)2.35894302
63Apathy (HP:0000741)2.35770236
64Intention tremor (HP:0002080)2.35245751
65Papilledema (HP:0001085)2.35178518
66Epileptiform EEG discharges (HP:0011182)2.31825048
67Absent speech (HP:0001344)2.30728957
68Gait imbalance (HP:0002141)2.28356966
69Delusions (HP:0000746)2.27457227
70Focal dystonia (HP:0004373)2.26091676
71Turricephaly (HP:0000262)2.25693430
72EEG with generalized epileptiform discharges (HP:0011198)2.24942059
73Ventricular fibrillation (HP:0001663)2.22227290
74Rigidity (HP:0002063)2.21617559
75Polyphagia (HP:0002591)2.19599155
76Limb dystonia (HP:0002451)2.19286491
77Impaired vibratory sensation (HP:0002495)2.18804959
78Pheochromocytoma (HP:0002666)2.18136334
79Abnormality of the heme biosynthetic pathway (HP:0010472)2.18049370
80Cerebral inclusion bodies (HP:0100314)2.17458993
81Stereotypic behavior (HP:0000733)2.13860654
82Inability to walk (HP:0002540)2.13491814
83Neurofibrillary tangles (HP:0002185)2.12972123
84Severe visual impairment (HP:0001141)2.12645075
85Decreased central vision (HP:0007663)2.12354678
86Generalized myoclonic seizures (HP:0002123)2.10696229
87Dyschromatopsia (HP:0007641)2.10020286
88Hypsarrhythmia (HP:0002521)2.09613926
89Megalencephaly (HP:0001355)2.06240805
90Spastic tetraparesis (HP:0001285)2.04428922
91Diminished motivation (HP:0000745)2.04308172
92Split foot (HP:0001839)2.03873259
93Choreoathetosis (HP:0001266)2.03708287
94Craniofacial dystonia (HP:0012179)2.01654010
95Bundle branch block (HP:0011710)2.00008424
96Sleep apnea (HP:0010535)1.99488700
97Lower limb muscle weakness (HP:0007340)1.99132852
98Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.98679629
99Abnormality of the corticospinal tract (HP:0002492)1.98293581
100Peripheral hypomyelination (HP:0007182)1.97790392
101Neuroendocrine neoplasm (HP:0100634)1.94469316
102Psychosis (HP:0000709)1.94333576
103Specific learning disability (HP:0001328)1.90923389
104Choroideremia (HP:0001139)1.89745009
105Annular pancreas (HP:0001734)1.89516976
106Neuronal loss in central nervous system (HP:0002529)1.89254725
107Termporal pattern (HP:0011008)1.88748433
108Insidious onset (HP:0003587)1.88748433
109Poikilocytosis (HP:0004447)1.88346585
110Congenital primary aphakia (HP:0007707)1.88330064
111Hypoventilation (HP:0002791)1.88013235
112Fetal akinesia sequence (HP:0001989)1.87226993
113Protruding tongue (HP:0010808)1.87045825
114Aplasia involving bones of the upper limbs (HP:0009823)1.86887811
115Aplasia of the phalanges of the hand (HP:0009802)1.86887811
116Aplasia involving bones of the extremities (HP:0009825)1.86887811
117Lower limb asymmetry (HP:0100559)1.86638429
118Incomplete penetrance (HP:0003829)1.86615246
119Gait ataxia (HP:0002066)1.86009717
120Morphological abnormality of the pyramidal tract (HP:0002062)1.85161016
121Abnormality of saccadic eye movements (HP:0000570)1.85053542
122Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.80350803
123Degeneration of the lateral corticospinal tracts (HP:0002314)1.80350803
124Rapidly progressive (HP:0003678)1.78351386
125CNS hypomyelination (HP:0003429)1.78298175
126Amyotrophic lateral sclerosis (HP:0007354)1.71432082
127Prolonged QT interval (HP:0001657)1.67839681
128Pointed chin (HP:0000307)1.62588752
129Unsteady gait (HP:0002317)1.61538050

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.46786635
2EPHA44.23463446
3MAP3K93.88893176
4MAP3K43.30898573
5MARK13.10736442
6MINK12.86283813
7MAP2K72.78844359
8DAPK22.44952955
9PAK62.31335011
10NTRK22.15908784
11MAP3K122.06733498
12MAP2K41.98187761
13CASK1.93669644
14KSR21.88983575
15CAMKK11.79852487
16NTRK11.71878311
17PRKD31.68843453
18SIK21.63348889
19CDK51.59688883
20TNIK1.57336820
21KSR11.56516085
22RIPK41.53163911
23GRK51.50385192
24DAPK11.47712502
25MAPK131.43110642
26PLK21.39923019
27CDK191.36012894
28STK381.35391658
29PNCK1.33924595
30PRKCG1.31347818
31CAMKK21.24607854
32NEK61.17675166
33PRPF4B1.16143278
34UHMK11.14148359
35PHKG21.13901754
36PHKG11.13901754
37IRAK21.13164711
38ARAF1.12854884
39SGK2231.11190745
40SGK4941.11190745
41TAOK11.07047997
42FES1.06628248
43CDK181.04692952
44CDK151.01405831
45CDK140.96170257
46CAMK10.92703048
47CAMK2A0.91584888
48SGK20.91514320
49PINK10.91432819
50PRKCH0.90451013
51NEK10.90348256
52CDK11A0.89544741
53TNK20.86252095
54DYRK1A0.85689841
55MAP3K130.84319570
56CCNB10.81387234
57MAP3K20.81187999
58FGFR20.80821377
59STK110.79439292
60LMTK20.78473475
61TYRO30.77601401
62SGK30.77128331
63LATS20.74473704
64SGK10.73884740
65RET0.72251788
66PKN10.69570872
67ALK0.69431144
68CAMK1G0.68771532
69CAMK2B0.66412941
70NME10.65070538
71BRSK10.63960920
72RAF10.63943394
73LIMK10.62964274
74AKT30.61379451
75SIK30.61378159
76DAPK30.61157176
77PTK2B0.60806872
78PAK30.58827960
79SCYL20.58716425
80MAPK120.57798572
81RPS6KA30.56728615
82TESK10.55401824
83CDC42BPA0.55136691
84PRKCZ0.54488371
85CSNK1G20.53966314
86WNK10.53090124
87PDK10.52452725
88OXSR10.52152376
89MARK20.49958825
90PRKG20.47891001
91MAPK100.47840005
92PDPK10.47288167
93MAP3K110.46784570
94ROCK20.46620294
95MAP3K10.46138774
96CAMK2D0.45196901
97CAMK40.44403876
98RIPK10.41686352
99GRK10.41379377
100PRKCB0.41203730
101PRKCE0.41045046
102MOS0.39305976
103MAP2K10.39112938
104ADRBK10.38825780
105FYN0.36997099
106BMPR20.36746337
107CAMK2G0.36510735
108MAPKAPK50.36402552
109ERBB20.35983684
110MUSK0.34966009
111BRAF0.34917539
112PRKACA0.31829704
113PRKCA0.30935936
114ICK0.30712594
115CSNK1D0.30098381
116PRKG10.29602926
117MAPK80.25841387
118SRC0.23993522
119RPS6KB10.23395553

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.98970557
2Synaptic vesicle cycle_Homo sapiens_hsa047213.72713468
3Phototransduction_Homo sapiens_hsa047443.21012108
4GABAergic synapse_Homo sapiens_hsa047272.97203084
5Olfactory transduction_Homo sapiens_hsa047402.79906111
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.77750954
7Circadian entrainment_Homo sapiens_hsa047132.68720028
8Morphine addiction_Homo sapiens_hsa050322.62847567
9Glutamatergic synapse_Homo sapiens_hsa047242.60684993
10Long-term potentiation_Homo sapiens_hsa047202.50342752
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.32062752
12Amphetamine addiction_Homo sapiens_hsa050312.25305093
13Salivary secretion_Homo sapiens_hsa049702.18833822
14Dopaminergic synapse_Homo sapiens_hsa047282.15107238
15Insulin secretion_Homo sapiens_hsa049111.98222697
16Cholinergic synapse_Homo sapiens_hsa047251.87769784
17Gastric acid secretion_Homo sapiens_hsa049711.82375319
18Collecting duct acid secretion_Homo sapiens_hsa049661.78421872
19Taste transduction_Homo sapiens_hsa047421.76495242
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.76014066
21Serotonergic synapse_Homo sapiens_hsa047261.64633237
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62762891
23Long-term depression_Homo sapiens_hsa047301.61892919
24Renin secretion_Homo sapiens_hsa049241.60075592
25Oxytocin signaling pathway_Homo sapiens_hsa049211.57735948
26Cocaine addiction_Homo sapiens_hsa050301.55743293
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.52638807
28Calcium signaling pathway_Homo sapiens_hsa040201.52389977
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.38522498
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32522426
31GnRH signaling pathway_Homo sapiens_hsa049121.30371467
32Gap junction_Homo sapiens_hsa045401.27864799
33cAMP signaling pathway_Homo sapiens_hsa040241.20899587
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20269422
35Cardiac muscle contraction_Homo sapiens_hsa042601.16400002
36Vitamin B6 metabolism_Homo sapiens_hsa007501.13186963
37Type II diabetes mellitus_Homo sapiens_hsa049301.08959316
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07685560
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.05897462
40Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01435758
41Glioma_Homo sapiens_hsa052141.00902638
42Estrogen signaling pathway_Homo sapiens_hsa049151.00210741
43cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98303170
44Oocyte meiosis_Homo sapiens_hsa041140.97010166
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96576569
46Axon guidance_Homo sapiens_hsa043600.94728185
47ErbB signaling pathway_Homo sapiens_hsa040120.90468868
48Vibrio cholerae infection_Homo sapiens_hsa051100.88992621
49Alcoholism_Homo sapiens_hsa050340.87786993
50Melanogenesis_Homo sapiens_hsa049160.86552732
51Pancreatic secretion_Homo sapiens_hsa049720.82849058
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.80395791
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.76110995
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.75873131
55Nitrogen metabolism_Homo sapiens_hsa009100.73687533
56Dorso-ventral axis formation_Homo sapiens_hsa043200.72732445
57Thyroid hormone synthesis_Homo sapiens_hsa049180.71389480
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70426109
59Dilated cardiomyopathy_Homo sapiens_hsa054140.66502376
60MAPK signaling pathway_Homo sapiens_hsa040100.66031000
61Choline metabolism in cancer_Homo sapiens_hsa052310.62598092
62Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62196171
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.60876212
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.60069306
65Circadian rhythm_Homo sapiens_hsa047100.59000275
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55206611
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54364523
68Arginine biosynthesis_Homo sapiens_hsa002200.52868733
69Bile secretion_Homo sapiens_hsa049760.51101801
70Inositol phosphate metabolism_Homo sapiens_hsa005620.50670206
71Ovarian steroidogenesis_Homo sapiens_hsa049130.50421079
72Neurotrophin signaling pathway_Homo sapiens_hsa047220.49701299
73Glucagon signaling pathway_Homo sapiens_hsa049220.49240010
74mTOR signaling pathway_Homo sapiens_hsa041500.47340638
75VEGF signaling pathway_Homo sapiens_hsa043700.47130859
76Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.46907505
77Ras signaling pathway_Homo sapiens_hsa040140.46027444
78Alzheimers disease_Homo sapiens_hsa050100.45465386
79Type I diabetes mellitus_Homo sapiens_hsa049400.45176061
80Arginine and proline metabolism_Homo sapiens_hsa003300.44717868
81Endocytosis_Homo sapiens_hsa041440.43802146
82Sphingolipid signaling pathway_Homo sapiens_hsa040710.41021079
83Non-small cell lung cancer_Homo sapiens_hsa052230.39777603
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39437421
85Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38118434
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37712728
87Rap1 signaling pathway_Homo sapiens_hsa040150.36927039
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36316404
89Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36311231
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.36296565
91Hippo signaling pathway_Homo sapiens_hsa043900.36007158
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.35744244
93Insulin signaling pathway_Homo sapiens_hsa049100.34328554
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34076396
95Endometrial cancer_Homo sapiens_hsa052130.32710847
96Wnt signaling pathway_Homo sapiens_hsa043100.32482648
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.31720390
98Oxidative phosphorylation_Homo sapiens_hsa001900.31353533
99Renal cell carcinoma_Homo sapiens_hsa052110.30125887
100Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.27603576
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.27366937
102AMPK signaling pathway_Homo sapiens_hsa041520.25531291
103Protein digestion and absorption_Homo sapiens_hsa049740.25228040
104Prion diseases_Homo sapiens_hsa050200.25114923
105Chemokine signaling pathway_Homo sapiens_hsa040620.24364820
106Tight junction_Homo sapiens_hsa045300.23336631
107Parkinsons disease_Homo sapiens_hsa050120.22785346
108Mineral absorption_Homo sapiens_hsa049780.22596621
109Fatty acid biosynthesis_Homo sapiens_hsa000610.22274636
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.18052006

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