EPB41L1

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: Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.36640272
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.20392391
3locomotory exploration behavior (GO:0035641)6.15767488
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.72339391
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.57042258
6vocalization behavior (GO:0071625)5.42366034
7synaptic vesicle exocytosis (GO:0016079)5.16404022
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.13491248
9glutamate secretion (GO:0014047)5.07871184
10synaptic vesicle docking involved in exocytosis (GO:0016081)4.98869855
11regulation of synaptic vesicle exocytosis (GO:2000300)4.94825379
12regulation of glutamate receptor signaling pathway (GO:1900449)4.83429541
13regulation of synapse structural plasticity (GO:0051823)4.65681135
14exploration behavior (GO:0035640)4.58406207
15regulation of long-term neuronal synaptic plasticity (GO:0048169)4.56074275
16neurotransmitter secretion (GO:0007269)4.55721415
17ionotropic glutamate receptor signaling pathway (GO:0035235)4.55437867
18layer formation in cerebral cortex (GO:0021819)4.54517429
19regulation of neuronal synaptic plasticity (GO:0048168)4.53976299
20neuronal action potential propagation (GO:0019227)4.41327085
21protein localization to synapse (GO:0035418)4.39176413
22regulation of synaptic vesicle transport (GO:1902803)4.38540190
23dendritic spine morphogenesis (GO:0060997)4.32426813
24gamma-aminobutyric acid transport (GO:0015812)4.25143420
25synaptic transmission, glutamatergic (GO:0035249)4.06066013
26neuron cell-cell adhesion (GO:0007158)4.03646136
27cellular potassium ion homeostasis (GO:0030007)3.99548064
28proline transport (GO:0015824)3.96097015
29long-term memory (GO:0007616)3.94268037
30sodium ion export (GO:0071436)3.93711118
31glutamate receptor signaling pathway (GO:0007215)3.91163982
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.90788670
33neurotransmitter-gated ion channel clustering (GO:0072578)3.87661000
34central nervous system myelination (GO:0022010)3.85130445
35axon ensheathment in central nervous system (GO:0032291)3.85130445
36neuron-neuron synaptic transmission (GO:0007270)3.84516141
37neuromuscular process controlling balance (GO:0050885)3.81329741
38positive regulation of membrane potential (GO:0045838)3.78580404
39activation of protein kinase A activity (GO:0034199)3.78007898
40regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.75209340
41potassium ion homeostasis (GO:0055075)3.75068418
42glycine transport (GO:0015816)3.74340907
43regulation of excitatory postsynaptic membrane potential (GO:0060079)3.73034553
44cellular sodium ion homeostasis (GO:0006883)3.71976746
45amino acid import (GO:0043090)3.65162188
46regulation of dendritic spine morphogenesis (GO:0061001)3.65154565
47neurotransmitter transport (GO:0006836)3.63831625
48positive regulation of synapse maturation (GO:0090129)3.55631183
49regulation of postsynaptic membrane potential (GO:0060078)3.53148504
50auditory behavior (GO:0031223)3.52515298
51regulation of synapse maturation (GO:0090128)3.52398713
52prepulse inhibition (GO:0060134)3.52275696
53regulation of synaptic plasticity (GO:0048167)3.51400030
54positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.51341167
55regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.47836318
56transmission of nerve impulse (GO:0019226)3.46860269
57dendrite morphogenesis (GO:0048813)3.46297846
58neuromuscular process controlling posture (GO:0050884)3.42844445
59regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.41580182
60positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.41183531
61regulation of neurotransmitter levels (GO:0001505)3.40327004
62cerebellar Purkinje cell differentiation (GO:0021702)3.39726280
63cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.37808852
64neuron recognition (GO:0008038)3.34454244
65regulation of neurotransmitter secretion (GO:0046928)3.34087839
66positive regulation of dendritic spine morphogenesis (GO:0061003)3.33708967
67response to auditory stimulus (GO:0010996)3.33475805
68positive regulation of synaptic transmission, GABAergic (GO:0032230)3.32061625
69cytoskeletal anchoring at plasma membrane (GO:0007016)3.30420145
70synaptic vesicle endocytosis (GO:0048488)3.26240932
71cell communication by electrical coupling (GO:0010644)3.25940581
72negative regulation of dendrite morphogenesis (GO:0050774)3.23893217
73regulation of synaptic transmission, glutamatergic (GO:0051966)3.23214852
74regulation of ARF protein signal transduction (GO:0032012)3.21078210
75L-amino acid import (GO:0043092)3.20799453
76neuronal ion channel clustering (GO:0045161)3.19508713
77long-term synaptic potentiation (GO:0060291)3.18021570
78axonal fasciculation (GO:0007413)3.16890622
79positive regulation of neurotransmitter transport (GO:0051590)3.16853454
80membrane hyperpolarization (GO:0060081)3.16176880
81regulation of neurotransmitter transport (GO:0051588)3.14070386
82vesicle transport along microtubule (GO:0047496)3.11803731
83dendritic spine organization (GO:0097061)3.11386525
84regulation of vesicle fusion (GO:0031338)3.11145399
85cell communication involved in cardiac conduction (GO:0086065)3.09147599
86membrane depolarization (GO:0051899)3.08525640
87membrane depolarization during action potential (GO:0086010)3.07809425
88cell migration in hindbrain (GO:0021535)3.07536076
89positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.07312091
90neuromuscular process (GO:0050905)3.04639318
91positive regulation of neurotransmitter secretion (GO:0001956)3.04617182
92regulation of dendritic spine development (GO:0060998)3.03493579
93G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.01421317
94mating behavior (GO:0007617)3.00815683
95positive regulation of dendritic spine development (GO:0060999)3.00809408
96regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.00463223
97gamma-aminobutyric acid signaling pathway (GO:0007214)2.98343489
98negative regulation of synaptic transmission, GABAergic (GO:0032229)2.98142348
99learning (GO:0007612)2.96033454
100cerebellar Purkinje cell layer development (GO:0021680)2.95476241
101negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.94318886
102potassium ion import (GO:0010107)2.94185374
103positive regulation of synaptic transmission (GO:0050806)2.93799074
104postsynaptic membrane organization (GO:0001941)2.91952788
105adult walking behavior (GO:0007628)2.91943747
106social behavior (GO:0035176)2.91927205
107intraspecies interaction between organisms (GO:0051703)2.91927205
108regulation of synaptic transmission (GO:0050804)2.91237853
109cerebellar granule cell differentiation (GO:0021707)2.89657744
110presynaptic membrane organization (GO:0097090)2.88927879
111synapse assembly (GO:0007416)2.88274549
112establishment of nucleus localization (GO:0040023)2.88193035
113establishment of mitochondrion localization (GO:0051654)2.87597343
114regulation of voltage-gated calcium channel activity (GO:1901385)2.87030228
115presynaptic membrane assembly (GO:0097105)2.76066316
116adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.73869564
117neuromuscular synaptic transmission (GO:0007274)2.73718396
118positive regulation of dendrite development (GO:1900006)2.73208142
119cell differentiation in hindbrain (GO:0021533)2.62804390

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.70346729
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.06378681
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.03146883
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.97070376
5GBX2_23144817_ChIP-Seq_PC3_Human2.90608272
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.85647545
7DROSHA_22980978_ChIP-Seq_HELA_Human2.81790016
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.79696443
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.79696443
10REST_21632747_ChIP-Seq_MESCs_Mouse2.68961231
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63883300
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56441388
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.54641464
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53644510
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45311682
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.43816587
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.37609413
18EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.34964818
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.33769718
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27848947
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.27669460
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.23754460
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.20950616
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.19552946
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.13478478
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.95796847
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.92803751
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.86866924
29AR_21572438_ChIP-Seq_LNCaP_Human1.83407684
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.81600896
31ESR2_21235772_ChIP-Seq_MCF-7_Human1.63205260
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.59740780
33TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.50903391
34KDM2B_26808549_Chip-Seq_K562_Human1.45776691
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.44280861
36TRIM28_21343339_ChIP-Seq_HEK293_Human1.44255379
37CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41483313
38* SMAD4_21799915_ChIP-Seq_A2780_Human1.38446812
39RING1B_27294783_Chip-Seq_ESCs_Mouse1.38029982
40* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.37668807
41ZFP281_18757296_ChIP-ChIP_E14_Mouse1.37562459
42WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.37318116
43* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.36814850
44TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.33061302
45ZNF274_21170338_ChIP-Seq_K562_Hela1.30498715
46* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.30007267
47* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.28919275
48* SOX2_21211035_ChIP-Seq_LN229_Gbm1.25434215
49AR_19668381_ChIP-Seq_PC3_Human1.24132683
50CTBP1_25329375_ChIP-Seq_LNCAP_Human1.23506421
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20913671
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20831548
53RING1B_27294783_Chip-Seq_NPCs_Mouse1.18520216
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.18033559
55EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.17123035
56PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16856787
57TP53_20018659_ChIP-ChIP_R1E_Mouse1.14730164
58GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14531557
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14182096
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.14025453
61* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.12112076
62LXR_22292898_ChIP-Seq_THP-1_Human1.11673478
63STAT3_23295773_ChIP-Seq_U87_Human1.10384037
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.10137421
65ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.09786116
66ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08393260
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07657934
68SMAD3_21741376_ChIP-Seq_EPCs_Human1.07521301
69* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.07289144
70PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.07133346
71* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06584709
72ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05745659
73AR_25329375_ChIP-Seq_VCAP_Human1.04978204
74RNF2_27304074_Chip-Seq_NSC_Mouse1.04168739
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03485945
76CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.03062646
77GATA1_26923725_Chip-Seq_HPCs_Mouse1.02962341
78AHR_22903824_ChIP-Seq_MCF-7_Human1.00971815
79YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00905130
80ARNT_22903824_ChIP-Seq_MCF-7_Human0.99644658
81SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99620935
82TAF15_26573619_Chip-Seq_HEK293_Human0.98714129
83TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97146923
84ESR1_21235772_ChIP-Seq_MCF-7_Human0.96675317
85* TET1_21490601_ChIP-Seq_MESCs_Mouse0.95907154
86SMAD3_21741376_ChIP-Seq_HESCs_Human0.95182611
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.95008484
88OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94478503
89VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94264352
90TOP2B_26459242_ChIP-Seq_MCF-7_Human0.93450377
91ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93293328
92P300_19829295_ChIP-Seq_ESCs_Human0.93099485
93* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93082582
94TCF4_23295773_ChIP-Seq_U87_Human0.92890838
95MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92858379
96SMAD3_21741376_ChIP-Seq_ESCs_Human0.92579851
97KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92206687
98SMC4_20622854_ChIP-Seq_HELA_Human0.91930369
99RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91743571
100BMI1_23680149_ChIP-Seq_NPCS_Mouse0.91236803
101DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90647471
102TP53_16413492_ChIP-PET_HCT116_Human0.90605444
103RXR_22108803_ChIP-Seq_LS180_Human0.89929574
104CTCF_27219007_Chip-Seq_Bcells_Human0.89478199
105CBX2_27304074_Chip-Seq_ESCs_Mouse0.89429654
106PIAS1_25552417_ChIP-Seq_VCAP_Human0.88784848
107NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86219396
108SRY_22984422_ChIP-ChIP_TESTIS_Rat0.84134752
109PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.84028030
110CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84021189
111CREB1_26743006_Chip-Seq_LNCaP_Human0.83620040
112AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83055124
113RARG_19884340_ChIP-ChIP_MEFs_Mouse0.82922338
114* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82877675
115EP300_21415370_ChIP-Seq_HL-1_Mouse0.82632056
116* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82572597
117THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.81988739
118ZFP57_27257070_Chip-Seq_ESCs_Mouse0.81578855
119* KLF4_19829295_ChIP-Seq_ESCs_Human0.81395649
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81163730
121* RUNX2_22187159_ChIP-Seq_PCA_Human0.79668753
122UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.79665927
123PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.79361209
124OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.79243552
125* TP53_23651856_ChIP-Seq_MEFs_Mouse0.78299110
126ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.76454791
127ISL1_27105846_Chip-Seq_CPCs_Mouse0.75871836
128* OCT4_19829295_ChIP-Seq_ESCs_Human0.73907556
129DPY_21335234_ChIP-Seq_ESCs_Mouse0.73020958
130CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70493189

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.02478785
2MP0003880_abnormal_central_pattern4.38025721
3MP0003635_abnormal_synaptic_transmissio4.27071860
4MP0004270_analgesia3.76421767
5MP0009745_abnormal_behavioral_response3.41305073
6MP0002822_catalepsy3.36975992
7MP0002063_abnormal_learning/memory/cond3.35540092
8MP0009046_muscle_twitch3.23782974
9MP0002064_seizures3.18742125
10MP0005423_abnormal_somatic_nervous3.04792379
11MP0001968_abnormal_touch/_nociception2.76343244
12MP0002572_abnormal_emotion/affect_behav2.72830625
13MP0002734_abnormal_mechanical_nocicepti2.62696937
14MP0001486_abnormal_startle_reflex2.60698258
15MP0002272_abnormal_nervous_system2.56801119
16MP0001501_abnormal_sleep_pattern2.24105264
17MP0009780_abnormal_chondrocyte_physiolo2.12005088
18MP0008569_lethality_at_weaning2.11870028
19MP0003123_paternal_imprinting2.05199826
20MP0001440_abnormal_grooming_behavior2.04927207
21MP0002733_abnormal_thermal_nociception2.00032900
22MP0002909_abnormal_adrenal_gland2.00011098
23MP0002736_abnormal_nociception_after1.96331693
24MP0003329_amyloid_beta_deposits1.95129808
25MP0004858_abnormal_nervous_system1.93458353
26MP0002735_abnormal_chemical_nociception1.92959340
27MP0001970_abnormal_pain_threshold1.92853607
28MP0004811_abnormal_neuron_physiology1.87585611
29MP0002067_abnormal_sensory_capabilities1.86109863
30MP0002184_abnormal_innervation1.76773318
31MP0005386_behavior/neurological_phenoty1.73821119
32MP0004924_abnormal_behavior1.73821119
33MP0000778_abnormal_nervous_system1.72231932
34MP0002557_abnormal_social/conspecific_i1.70487885
35MP0004885_abnormal_endolymph1.68632759
36MP0000955_abnormal_spinal_cord1.62830911
37MP0003879_abnormal_hair_cell1.48711245
38MP0000566_synostosis1.48144644
39MP0002066_abnormal_motor_capabilities/c1.44904072
40MP0003633_abnormal_nervous_system1.44102223
41MP0005646_abnormal_pituitary_gland1.43297011
42MP0002882_abnormal_neuron_morphology1.41204924
43MP0001984_abnormal_olfaction1.31578944
44MP0000569_abnormal_digit_pigmentation1.29580411
45MP0003283_abnormal_digestive_organ1.23358632
46MP0003787_abnormal_imprinting1.21538711
47MP0003631_nervous_system_phenotype1.20786395
48MP0006276_abnormal_autonomic_nervous1.20473808
49MP0005645_abnormal_hypothalamus_physiol1.18361813
50MP0003690_abnormal_glial_cell1.17378384
51MP0004142_abnormal_muscle_tone1.15954590
52MP0000013_abnormal_adipose_tissue1.15064311
53MP0002152_abnormal_brain_morphology1.12653575
54MP0001177_atelectasis1.10610599
55MP0000751_myopathy1.09463839
56MP0008961_abnormal_basal_metabolism1.06935556
57MP0001502_abnormal_circadian_rhythm1.05692862
58MP0003122_maternal_imprinting1.05687813
59MP0001529_abnormal_vocalization1.05343270
60MP0003075_altered_response_to1.04485085
61MP0008872_abnormal_physiological_respon1.00960914
62MP0001348_abnormal_lacrimal_gland1.00833054
63MP0003121_genomic_imprinting1.00694081
64MP0001905_abnormal_dopamine_level1.00528145
65MP0000920_abnormal_myelination1.00086397
66MP0004145_abnormal_muscle_electrophysio0.97546797
67MP0003634_abnormal_glial_cell0.96307757
68MP0005623_abnormal_meninges_morphology0.94127335
69MP0002069_abnormal_eating/drinking_beha0.93900526
70MP0002229_neurodegeneration0.93054273
71MP0003632_abnormal_nervous_system0.92557835
72MP0008874_decreased_physiological_sensi0.91985980
73MP0000604_amyloidosis0.88738290
74MP0005167_abnormal_blood-brain_barrier0.88049496
75MP0000579_abnormal_nail_morphology0.86397693
76MP0005535_abnormal_body_temperature0.83009675
77MP0004742_abnormal_vestibular_system0.82739039
78MP0004085_abnormal_heartbeat0.80948864
79MP0001346_abnormal_lacrimal_gland0.78973504
80MP0002638_abnormal_pupillary_reflex0.78635052
81MP0001299_abnormal_eye_distance/0.77842351
82MP0003172_abnormal_lysosome_physiology0.77501553
83MP0010234_abnormal_vibrissa_follicle0.77222678
84MP0002090_abnormal_vision0.77200715
85MP0000534_abnormal_ureter_morphology0.70645785
86MP0003137_abnormal_impulse_conducting0.70008092
87MP0010386_abnormal_urinary_bladder0.69723225
88MP0001188_hyperpigmentation0.69187701
89MP0000639_abnormal_adrenal_gland0.68083534
90MP0004233_abnormal_muscle_weight0.67969487
91MP0005551_abnormal_eye_electrophysiolog0.67944593
92MP0004130_abnormal_muscle_cell0.67629215
93MP0002249_abnormal_larynx_morphology0.66777819
94MP0001963_abnormal_hearing_physiology0.66546556
95MP0005394_taste/olfaction_phenotype0.65049578
96MP0005499_abnormal_olfactory_system0.65049578
97MP0002752_abnormal_somatic_nervous0.64665297
98MP0003938_abnormal_ear_development0.61981910
99MP0000026_abnormal_inner_ear0.60916401
100MP0000631_abnormal_neuroendocrine_gland0.59510413
101MP0004215_abnormal_myocardial_fiber0.59437762
102MP0004043_abnormal_pH_regulation0.57944561
103MP0002082_postnatal_lethality0.57663348
104MP0005409_darkened_coat_color0.56564920
105MP0001943_abnormal_respiration0.56041767
106MP0003861_abnormal_nervous_system0.55998489
107MP0010768_mortality/aging0.55503882
108MP0010769_abnormal_survival0.55398750
109MP0001485_abnormal_pinna_reflex0.54567340
110MP0004510_myositis0.54564522
111MP0003942_abnormal_urinary_system0.54538492
112MP0004484_altered_response_of0.53242627
113MP0000747_muscle_weakness0.51907379
114MP0002089_abnormal_postnatal_growth/wei0.51872325
115MP0010770_preweaning_lethality0.51791281
116MP0000462_abnormal_digestive_system0.50227708
117MP0003956_abnormal_body_size0.49627286
118MP0002081_perinatal_lethality0.49314739

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.21213337
2Focal motor seizures (HP:0011153)6.87027892
3Focal seizures (HP:0007359)5.49110982
4Visual hallucinations (HP:0002367)5.14082583
5Action tremor (HP:0002345)4.45872176
6Progressive cerebellar ataxia (HP:0002073)4.18797156
7Epileptic encephalopathy (HP:0200134)4.07410534
8Atonic seizures (HP:0010819)3.90405986
9Supranuclear gaze palsy (HP:0000605)3.89296752
10Ankle clonus (HP:0011448)3.81882357
11Febrile seizures (HP:0002373)3.73508565
12Absence seizures (HP:0002121)3.61591568
13Generalized tonic-clonic seizures (HP:0002069)3.54791232
14Poor eye contact (HP:0000817)3.46917410
15Broad-based gait (HP:0002136)3.35550312
16Mutism (HP:0002300)3.33435572
17Depression (HP:0000716)3.31639500
18Papilledema (HP:0001085)3.31506398
19Impaired vibration sensation in the lower limbs (HP:0002166)3.31152215
20Dysdiadochokinesis (HP:0002075)3.30441261
21Gaze-evoked nystagmus (HP:0000640)3.29787390
22Dialeptic seizures (HP:0011146)3.28994568
23Impaired social interactions (HP:0000735)3.23323897
24Abnormal social behavior (HP:0012433)3.23323897
25Urinary bladder sphincter dysfunction (HP:0002839)3.20404606
26Dysmetria (HP:0001310)3.11509615
27Postural instability (HP:0002172)3.09199265
28Abnormal eating behavior (HP:0100738)3.05543859
29Akinesia (HP:0002304)3.05148580
30Abnormality of the lower motor neuron (HP:0002366)3.03576109
31Anxiety (HP:0000739)2.98816738
32Intention tremor (HP:0002080)2.97184356
33Torticollis (HP:0000473)2.97175946
34Truncal ataxia (HP:0002078)2.93912212
35Genetic anticipation (HP:0003743)2.90771441
36Urinary urgency (HP:0000012)2.86770993
37Hemiplegia (HP:0002301)2.80366614
38Impaired smooth pursuit (HP:0007772)2.74017820
39Sleep apnea (HP:0010535)2.74007999
40Spastic gait (HP:0002064)2.71621694
41Scanning speech (HP:0002168)2.66411450
42Focal dystonia (HP:0004373)2.65664851
43Neurofibrillary tangles (HP:0002185)2.63559354
44Annular pancreas (HP:0001734)2.62204472
45Amblyopia (HP:0000646)2.58521742
46Ventricular fibrillation (HP:0001663)2.58165219
47Hemiparesis (HP:0001269)2.57087590
48Cerebral inclusion bodies (HP:0100314)2.56490196
49Dysmetric saccades (HP:0000641)2.52420732
50Abnormality of binocular vision (HP:0011514)2.50208600
51Diplopia (HP:0000651)2.50208600
52Megalencephaly (HP:0001355)2.50012084
53Stereotypic behavior (HP:0000733)2.45569753
54Bradykinesia (HP:0002067)2.44490425
55Abnormality of ocular smooth pursuit (HP:0000617)2.43419049
56Craniofacial dystonia (HP:0012179)2.41597508
57Pointed chin (HP:0000307)2.40906084
58Insidious onset (HP:0003587)2.39075349
59Termporal pattern (HP:0011008)2.39075349
60Cerebral hypomyelination (HP:0006808)2.36916185
61Excessive salivation (HP:0003781)2.36832137
62Drooling (HP:0002307)2.36832137
63Progressive inability to walk (HP:0002505)2.36133498
64Insomnia (HP:0100785)2.34734518
65Bronchomalacia (HP:0002780)2.32121778
66Abnormality of the corticospinal tract (HP:0002492)2.31981415
67Lower limb muscle weakness (HP:0007340)2.28821812
68Limb dystonia (HP:0002451)2.23408718
69Hyperventilation (HP:0002883)2.23053073
70Bundle branch block (HP:0011710)2.20748851
71Impaired vibratory sensation (HP:0002495)2.18343500
72Status epilepticus (HP:0002133)2.16592090
73Resting tremor (HP:0002322)2.16272099
74Neuronal loss in central nervous system (HP:0002529)2.15248024
75Peripheral hypomyelination (HP:0007182)2.14838539
76Clonus (HP:0002169)2.11525636
77Fetal akinesia sequence (HP:0001989)2.10265409
78Turricephaly (HP:0000262)2.09954812
79Lower limb amyotrophy (HP:0007210)2.09032431
80Obstructive sleep apnea (HP:0002870)2.07306869
81Agitation (HP:0000713)2.06573157
82Amyotrophic lateral sclerosis (HP:0007354)2.05144364
83Epileptiform EEG discharges (HP:0011182)2.01273433
84Pheochromocytoma (HP:0002666)1.99196273
85EEG with generalized epileptiform discharges (HP:0011198)1.98980147
86Ankyloglossia (HP:0010296)1.97459117
87Lower limb asymmetry (HP:0100559)1.95468364
88Hypsarrhythmia (HP:0002521)1.95017639
89Polyphagia (HP:0002591)1.94833013
90Spastic tetraparesis (HP:0001285)1.94666313
91Abnormality of saccadic eye movements (HP:0000570)1.93129934
92Apathy (HP:0000741)1.93117791
93Aplasia involving bones of the extremities (HP:0009825)1.92362641
94Aplasia involving bones of the upper limbs (HP:0009823)1.92362641
95Aplasia of the phalanges of the hand (HP:0009802)1.92362641
96Gait ataxia (HP:0002066)1.92039164
97Absent speech (HP:0001344)1.91987954
98Morphological abnormality of the pyramidal tract (HP:0002062)1.91903996
99Diminished motivation (HP:0000745)1.89725830
100Inappropriate behavior (HP:0000719)1.88640500
101Rapidly progressive (HP:0003678)1.86815145
102Incomplete penetrance (HP:0003829)1.86750950
103Generalized myoclonic seizures (HP:0002123)1.86692730
104Abnormal EKG (HP:0003115)1.85967568
105Hyperacusis (HP:0010780)1.84536163
106Rigidity (HP:0002063)1.81887587
107Tetraplegia (HP:0002445)1.76840366
108Postural tremor (HP:0002174)1.76311187
109Increased circulating renin level (HP:0000848)1.75931723
110Hypoventilation (HP:0002791)1.75450088
111Distal upper limb amyotrophy (HP:0007149)1.73855456
112Upper limb amyotrophy (HP:0009129)1.73855456
113Degeneration of the lateral corticospinal tracts (HP:0002314)1.73620695
114Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.73620695
115Macroorchidism (HP:0000053)1.72681556
116Shallow orbits (HP:0000586)1.71782014
117Spinal canal stenosis (HP:0003416)1.70472908
118Hammertoe (HP:0001765)1.68583021
119Delusions (HP:0000746)1.65199023
120Hand muscle atrophy (HP:0009130)1.65197431
121Hypercortisolism (HP:0001578)1.57699892
122CNS hypomyelination (HP:0003429)1.56832791

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.19388534
2NTRK34.19155904
3MAP3K94.08659878
4MARK13.27132822
5MINK12.70928292
6MAP3K42.69619492
7DAPK22.60318306
8PRKD32.52175781
9PAK62.48533826
10CAMKK12.30017902
11KSR22.26980966
12NTRK22.20753202
13NTRK12.04443766
14MAP2K71.97028020
15MAP2K41.70441713
16STK381.61396113
17CDK51.61050804
18KSR11.53239416
19TYRO31.51667386
20RIPK41.44488160
21CAMKK21.40083727
22SIK21.35107773
23DAPK11.33236370
24MAP3K21.32428181
25MAP3K121.29459655
26TAOK11.28071669
27UHMK11.20344991
28GRK51.19220923
29PRPF4B1.19068097
30FES1.17551555
31PHKG21.16682790
32PHKG11.16682790
33LATS21.16272539
34TNIK1.12456400
35RIPK11.11781263
36ARAF1.09952793
37PRKCG1.09816063
38MAPK131.09277277
39CDK191.07063891
40PRKCH1.04836328
41PLK21.04166753
42PNCK1.03607006
43ALK1.02412405
44STK111.02294275
45MAP3K131.00104557
46RET0.99151709
47LMTK20.97730155
48CAMK10.96617734
49CDK150.93994105
50CDK180.93044903
51CAMK1G0.90527881
52CDK140.88584077
53SGK2230.86999138
54SGK4940.86999138
55PINK10.85495027
56PAK30.84517663
57MARK20.83275626
58CDK11A0.81480717
59MAPK120.80779416
60CAMK2A0.79676404
61WNK10.79031374
62TESK10.73555844
63RAF10.72989893
64SGK30.71117077
65DDR20.70316649
66LIMK10.70021143
67CAMK2B0.68742081
68SCYL20.68201744
69SGK10.67760127
70PDK10.67404684
71PDPK10.67063539
72PTK2B0.66344465
73OXSR10.63976527
74PKN10.63828687
75CSNK1G20.63113105
76SGK20.62706211
77BRAF0.61792885
78CASK0.61111193
79PDGFRA0.60944419
80SIK10.60805917
81CDC42BPA0.60272646
82PTK20.59621012
83WNK40.58987847
84TNK20.58072297
85NEK10.55551860
86TRIB30.55351749
87MAP3K10.55287818
88PRKCZ0.54051707
89DYRK1A0.53959983
90FYN0.52437576
91STK390.52061000
92AKT30.51708963
93* RPS6KA30.50907807
94ERBB20.50829698
95BRSK10.49558963
96CAMK40.49212791
97MAPK100.47768675
98NEK60.47753901
99FGFR20.47367476
100EPHA20.47239357
101RPS6KA20.46715694
102ICK0.46491870
103DMPK0.45777240
104FER0.45693253
105MAP2K10.44491103
106DAPK30.43460808
107BMX0.43054583
108CAMK2G0.42778654
109MAP3K70.42329597
110CAMK2D0.40653070
111ROCK10.40510919
112CSNK1E0.39104571
113PRKCE0.37913733
114DYRK20.37833521
115MAPKAPK50.37720906
116MAP3K110.36721688
117ROCK20.35158910
118CAMK1D0.34240480

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.23581084
2Synaptic vesicle cycle_Homo sapiens_hsa047213.12665685
3Olfactory transduction_Homo sapiens_hsa047402.77906958
4GABAergic synapse_Homo sapiens_hsa047272.60953674
5Circadian entrainment_Homo sapiens_hsa047132.58730609
6Long-term potentiation_Homo sapiens_hsa047202.53330112
7Glutamatergic synapse_Homo sapiens_hsa047242.49931138
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41206022
9Morphine addiction_Homo sapiens_hsa050322.36667717
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.29927411
11Amphetamine addiction_Homo sapiens_hsa050312.28273958
12Salivary secretion_Homo sapiens_hsa049702.11118355
13Dopaminergic synapse_Homo sapiens_hsa047282.09741171
14Gastric acid secretion_Homo sapiens_hsa049711.94149942
15Cholinergic synapse_Homo sapiens_hsa047251.92615778
16Insulin secretion_Homo sapiens_hsa049111.89602689
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.85897047
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.72118477
19Cocaine addiction_Homo sapiens_hsa050301.68529258
20Long-term depression_Homo sapiens_hsa047301.64085429
21Oxytocin signaling pathway_Homo sapiens_hsa049211.62395888
22Nitrogen metabolism_Homo sapiens_hsa009101.60778139
23Renin secretion_Homo sapiens_hsa049241.59640585
24Taste transduction_Homo sapiens_hsa047421.52097521
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.51611746
26GnRH signaling pathway_Homo sapiens_hsa049121.47947692
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46009832
28Calcium signaling pathway_Homo sapiens_hsa040201.44881859
29Vitamin B6 metabolism_Homo sapiens_hsa007501.43790454
30Serotonergic synapse_Homo sapiens_hsa047261.42247307
31Gap junction_Homo sapiens_hsa045401.39617445
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.35117837
33Type II diabetes mellitus_Homo sapiens_hsa049301.28835244
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27729752
35cAMP signaling pathway_Homo sapiens_hsa040241.27277730
36Glioma_Homo sapiens_hsa052141.23534545
37Estrogen signaling pathway_Homo sapiens_hsa049151.21470388
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14121043
39Axon guidance_Homo sapiens_hsa043601.11175237
40ErbB signaling pathway_Homo sapiens_hsa040121.06982601
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06095260
42Melanogenesis_Homo sapiens_hsa049161.02178058
43Collecting duct acid secretion_Homo sapiens_hsa049661.00659795
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00417860
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.97660976
46Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.96578990
47Dorso-ventral axis formation_Homo sapiens_hsa043200.90786662
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.88689665
49Oocyte meiosis_Homo sapiens_hsa041140.87424428
50Pancreatic secretion_Homo sapiens_hsa049720.86887112
51Histidine metabolism_Homo sapiens_hsa003400.85899312
52Thyroid hormone synthesis_Homo sapiens_hsa049180.85351983
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.81429808
54Dilated cardiomyopathy_Homo sapiens_hsa054140.80402328
55Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.78670409
56Cardiac muscle contraction_Homo sapiens_hsa042600.78541065
57Choline metabolism in cancer_Homo sapiens_hsa052310.76409927
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.75092029
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.74152071
60Carbohydrate digestion and absorption_Homo sapiens_hsa049730.71205842
61MAPK signaling pathway_Homo sapiens_hsa040100.71100299
62Vibrio cholerae infection_Homo sapiens_hsa051100.70639582
63VEGF signaling pathway_Homo sapiens_hsa043700.70531090
64mTOR signaling pathway_Homo sapiens_hsa041500.68964419
65Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.68142235
66Endocytosis_Homo sapiens_hsa041440.64783885
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64518315
68Rap1 signaling pathway_Homo sapiens_hsa040150.64379471
69Bile secretion_Homo sapiens_hsa049760.61674646
70Phototransduction_Homo sapiens_hsa047440.61550086
71Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60759539
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.60366178
73Hippo signaling pathway_Homo sapiens_hsa043900.59039488
74Ras signaling pathway_Homo sapiens_hsa040140.58737890
75Endometrial cancer_Homo sapiens_hsa052130.57085396
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.56495994
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55828428
78Glucagon signaling pathway_Homo sapiens_hsa049220.55544869
79Non-small cell lung cancer_Homo sapiens_hsa052230.54767461
80Phenylalanine metabolism_Homo sapiens_hsa003600.52704788
81Renal cell carcinoma_Homo sapiens_hsa052110.52180174
82AMPK signaling pathway_Homo sapiens_hsa041520.51855447
83Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51717020
84Arginine biosynthesis_Homo sapiens_hsa002200.51477179
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50742901
86Arginine and proline metabolism_Homo sapiens_hsa003300.50654839
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.50505386
88Alcoholism_Homo sapiens_hsa050340.50378533
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50281134
90* Tight junction_Homo sapiens_hsa045300.50254786
91Inositol phosphate metabolism_Homo sapiens_hsa005620.50067919
92Insulin signaling pathway_Homo sapiens_hsa049100.48923814
93beta-Alanine metabolism_Homo sapiens_hsa004100.47419502
94Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47379084
95Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45465044
96Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44709332
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44611913
98Prion diseases_Homo sapiens_hsa050200.44014235
99Type I diabetes mellitus_Homo sapiens_hsa049400.42186987
100ECM-receptor interaction_Homo sapiens_hsa045120.40763399
101Mineral absorption_Homo sapiens_hsa049780.40263405
102Wnt signaling pathway_Homo sapiens_hsa043100.39942351
103Chemokine signaling pathway_Homo sapiens_hsa040620.39781134
104Ovarian steroidogenesis_Homo sapiens_hsa049130.39552600
105Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39279297
106Fatty acid biosynthesis_Homo sapiens_hsa000610.38306732
107Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.34467270
108Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.34190754
109Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33617939
110Circadian rhythm_Homo sapiens_hsa047100.33071188
111Central carbon metabolism in cancer_Homo sapiens_hsa052300.32478521
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.31807739
113Platelet activation_Homo sapiens_hsa046110.31457602
114Regulation of actin cytoskeleton_Homo sapiens_hsa048100.30026321

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