FXYD6

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.26897128
2vocalization behavior (GO:0071625)5.04899417
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.82976104
4establishment of mitochondrion localization (GO:0051654)4.50110569
5synaptic vesicle exocytosis (GO:0016079)4.49196619
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.38803132
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.30352537
8negative regulation of synaptic transmission, GABAergic (GO:0032229)4.27283639
9cell migration in hindbrain (GO:0021535)4.20360653
10neurotransmitter secretion (GO:0007269)4.16461022
11regulation of synaptic vesicle exocytosis (GO:2000300)4.07945543
12negative regulation of microtubule polymerization (GO:0031115)4.05457439
13protein localization to synapse (GO:0035418)4.05150095
14regulation of glutamate receptor signaling pathway (GO:1900449)4.04778212
15proline transport (GO:0015824)3.90600437
16neuron recognition (GO:0008038)3.88650627
17layer formation in cerebral cortex (GO:0021819)3.85862872
18locomotory exploration behavior (GO:0035641)3.76889154
19neuronal ion channel clustering (GO:0045161)3.75975213
20synaptic vesicle maturation (GO:0016188)3.72175056
21regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.72162160
22regulation of penile erection (GO:0060405)3.70723290
23pyrimidine nucleobase catabolic process (GO:0006208)3.65796623
24postsynaptic membrane organization (GO:0001941)3.63041151
25axonal fasciculation (GO:0007413)3.61320133
26positive regulation of synapse maturation (GO:0090129)3.57569351
27positive regulation of synapse assembly (GO:0051965)3.57304913
28behavioral response to ethanol (GO:0048149)3.56504567
29regulation of synaptic vesicle transport (GO:1902803)3.54705040
30behavioral response to nicotine (GO:0035095)3.51592982
31exploration behavior (GO:0035640)3.48759668
32positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.48049572
33mechanosensory behavior (GO:0007638)3.44091269
34neurotransmitter transport (GO:0006836)3.37390060
35response to auditory stimulus (GO:0010996)3.33662465
36regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.32764749
37glutamate secretion (GO:0014047)3.31875025
38neurotransmitter-gated ion channel clustering (GO:0072578)3.28014325
39startle response (GO:0001964)3.27309567
40glycosphingolipid biosynthetic process (GO:0006688)3.26789981
41central nervous system myelination (GO:0022010)3.24821548
42axon ensheathment in central nervous system (GO:0032291)3.24821548
43dendritic spine morphogenesis (GO:0060997)3.23604168
44neuromuscular synaptic transmission (GO:0007274)3.21135495
45establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.19754897
46mitochondrion transport along microtubule (GO:0047497)3.19754897
47positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.18395976
48regulation of synapse structural plasticity (GO:0051823)3.16305110
49positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.15256495
50regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.13871138
51neuronal action potential propagation (GO:0019227)3.12934014
52cellular potassium ion homeostasis (GO:0030007)3.11758768
53neuron-neuron synaptic transmission (GO:0007270)3.11490929
54regulation of neurotransmitter levels (GO:0001505)3.09123294
55dendritic spine organization (GO:0097061)3.06358142
56positive regulation of membrane potential (GO:0045838)3.01828605
57membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.01381738
58fear response (GO:0042596)3.00926582
59regulation of cAMP-dependent protein kinase activity (GO:2000479)2.99587892
60regulation of dendritic spine morphogenesis (GO:0061001)2.98991791
61regulation of synapse maturation (GO:0090128)2.98493990
62positive regulation of synaptic transmission, GABAergic (GO:0032230)2.97155387
63nucleobase catabolic process (GO:0046113)2.96510188
64ionotropic glutamate receptor signaling pathway (GO:0035235)2.96488392
65synaptic transmission, glutamatergic (GO:0035249)2.96203841
66calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.96057512
67synapse assembly (GO:0007416)2.94944031
68central nervous system projection neuron axonogenesis (GO:0021952)2.94421013
69acidic amino acid transport (GO:0015800)2.93950146
70ATP hydrolysis coupled proton transport (GO:0015991)2.93888439
71energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.93888439
72phenol-containing compound catabolic process (GO:0019336)2.93433455
73G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.92397513
74regulation of respiratory system process (GO:0044065)2.91487881
75activation of protein kinase A activity (GO:0034199)2.90650395
76C4-dicarboxylate transport (GO:0015740)2.90577069
77innervation (GO:0060384)2.89811465
78positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.89778928
79adult walking behavior (GO:0007628)2.89760454
80gamma-aminobutyric acid transport (GO:0015812)2.89733454
81regulation of synapse assembly (GO:0051963)2.89573257
82membrane hyperpolarization (GO:0060081)2.89526595
83presynaptic membrane assembly (GO:0097105)2.88667119
84amino acid import (GO:0043090)2.87500261
85synaptic vesicle endocytosis (GO:0048488)2.86072162
86negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.85475426
87regulation of neuronal synaptic plasticity (GO:0048168)2.84675468
88synaptic vesicle docking involved in exocytosis (GO:0016081)2.84592685
89behavioral defense response (GO:0002209)2.83249266
90behavioral fear response (GO:0001662)2.83249266
91regulation of voltage-gated calcium channel activity (GO:1901385)2.82281022
92regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.81053709
93regulation of neurotransmitter secretion (GO:0046928)2.81047976
94detection of calcium ion (GO:0005513)2.80429215
95auditory behavior (GO:0031223)2.79978285
96membrane depolarization during action potential (GO:0086010)2.79910507
97retinal ganglion cell axon guidance (GO:0031290)2.79302699
98positive regulation of dendritic spine development (GO:0060999)2.79039468
99aggressive behavior (GO:0002118)2.76890848
100response to pheromone (GO:0019236)2.76307236
101intraspecies interaction between organisms (GO:0051703)2.76034254
102social behavior (GO:0035176)2.76034254
103regulation of respiratory gaseous exchange (GO:0043576)2.76007572
104cerebellar granule cell differentiation (GO:0021707)2.75366119
105membrane depolarization (GO:0051899)2.74689109
106regulation of long-term neuronal synaptic plasticity (GO:0048169)2.73618717
107glutamate receptor signaling pathway (GO:0007215)2.73409529
108synapse organization (GO:0050808)2.72036962
109sodium ion export (GO:0071436)2.71706832
110neurotransmitter biosynthetic process (GO:0042136)2.70382016
111establishment of synaptic vesicle localization (GO:0097480)2.70092260
112synaptic vesicle transport (GO:0048489)2.70092260
113regulation of vesicle fusion (GO:0031338)2.69932954
114presynaptic membrane organization (GO:0097090)2.69317450
115dendrite morphogenesis (GO:0048813)2.68414167
116cerebellar Purkinje cell layer development (GO:0021680)2.68201117
117regulation of synaptic transmission, glutamatergic (GO:0051966)2.66826974
118regulation of synapse organization (GO:0050807)2.65737200
119regulation of neurotransmitter transport (GO:0051588)2.65392327
120regulation of synaptic transmission, dopaminergic (GO:0032225)2.65219279
121multi-organism behavior (GO:0051705)2.64490479
122regulation of excitatory postsynaptic membrane potential (GO:0060079)2.63330764
123mating behavior (GO:0007617)2.63251516
124hippocampus development (GO:0021766)2.62422275
125cerebellum development (GO:0021549)2.62305520
126female mating behavior (GO:0060180)2.60425585
127neuromuscular process controlling posture (GO:0050884)2.60348163
128transmission of nerve impulse (GO:0019226)2.59974781
129regulation of synaptic transmission, GABAergic (GO:0032228)2.59586291
130adult behavior (GO:0030534)2.59542308
131regulation of postsynaptic membrane potential (GO:0060078)2.58530922

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.20097144
2GBX2_23144817_ChIP-Seq_PC3_Human3.31584687
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.99634551
4NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.94819321
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.88918232
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.87794646
7SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.78011641
8* REST_21632747_ChIP-Seq_MESCs_Mouse2.67386476
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62751657
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52637384
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52637384
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48051360
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47963204
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.46958865
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.45707739
16CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.43188550
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.38319942
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.33362644
19SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.20774589
20MTF2_20144788_ChIP-Seq_MESCs_Mouse2.16855264
21BMI1_23680149_ChIP-Seq_NPCS_Mouse2.14803942
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.14292126
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.09342244
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.06140192
25CTBP2_25329375_ChIP-Seq_LNCAP_Human2.05410974
26TAF15_26573619_Chip-Seq_HEK293_Human1.88842626
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83522676
28RARB_27405468_Chip-Seq_BRAIN_Mouse1.80332857
29CBX2_27304074_Chip-Seq_ESCs_Mouse1.79786141
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76873040
31ZNF274_21170338_ChIP-Seq_K562_Hela1.74958580
32RNF2_27304074_Chip-Seq_NSC_Mouse1.70488632
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.69980430
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.64944757
35DROSHA_22980978_ChIP-Seq_HELA_Human1.64404025
36HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.54906318
37EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.48313089
38ZFP57_27257070_Chip-Seq_ESCs_Mouse1.47924317
39SMAD4_21799915_ChIP-Seq_A2780_Human1.47697658
40MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.44757274
41IGF1R_20145208_ChIP-Seq_DFB_Human1.44634489
42AR_21572438_ChIP-Seq_LNCaP_Human1.42584537
43* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.42321205
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.41077746
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.35627859
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35029518
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33987644
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33334755
49RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.30800712
50P300_19829295_ChIP-Seq_ESCs_Human1.30205038
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28082769
52* SOX2_21211035_ChIP-Seq_LN229_Gbm1.26750925
53RING1B_27294783_Chip-Seq_NPCs_Mouse1.23051849
54ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.19921651
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19196301
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19196301
57OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.18684481
58FUS_26573619_Chip-Seq_HEK293_Human1.18049259
59SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17288309
60* IKZF1_21737484_ChIP-ChIP_HCT116_Human1.16714631
61POU5F1_16153702_ChIP-ChIP_HESCs_Human1.16534865
62OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15644394
63CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.15307148
64RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.14328322
65ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.13254959
66E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.11914076
67CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11843125
68SMAD3_21741376_ChIP-Seq_EPCs_Human1.11220503
69GATA1_26923725_Chip-Seq_HPCs_Mouse1.10240007
70TP53_20018659_ChIP-ChIP_R1E_Mouse1.09539349
71YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07784571
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07559635
73SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.07237259
74TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.06839911
75SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06419104
76AR_25329375_ChIP-Seq_VCAP_Human1.05766825
77AR_19668381_ChIP-Seq_PC3_Human1.03876858
78SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03342348
79PIAS1_25552417_ChIP-Seq_VCAP_Human1.02970573
80DNAJC2_21179169_ChIP-ChIP_NT2_Human1.02689029
81VDR_22108803_ChIP-Seq_LS180_Human1.01794538
82KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98091861
83TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98030440
84GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.97945523
85CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.97174401
86CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.96667197
87AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95803781
88FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.95464138
89P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95139316
90SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.94422141
91STAT3_23295773_ChIP-Seq_U87_Human0.93370998
92STAT6_21828071_ChIP-Seq_BEAS2B_Human0.92845094
93LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92705585
94SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.92688856
95SMAD3_21741376_ChIP-Seq_ESCs_Human0.92230352
96* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.91772087
97SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.91727476
98TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.91397771
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90723954
100* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.90215297
101* CBP_20019798_ChIP-Seq_JUKART_Human0.90206554
102* IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.90206554
103MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.89753107
104JUN_21703547_ChIP-Seq_K562_Human0.89122165
105RBPJ_22232070_ChIP-Seq_NCS_Mouse0.88962085
106REST_19997604_ChIP-ChIP_NEURONS_Mouse0.88942426
107SOX9_26525672_Chip-Seq_HEART_Mouse0.88258551
108GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87968005
109RUNX2_22187159_ChIP-Seq_PCA_Human0.87565037
110POU3F2_20337985_ChIP-ChIP_501MEL_Human0.87474027
111TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87434391
112ETV2_25802403_ChIP-Seq_MESCs_Mouse0.86272805
113TAL1_26923725_Chip-Seq_HPCs_Mouse0.86028969
114ARNT_22903824_ChIP-Seq_MCF-7_Human0.85736959
115* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.84600622
116SALL1_21062744_ChIP-ChIP_HESCs_Human0.84057253
117TCF4_23295773_ChIP-Seq_U87_Human0.83505159
118MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.83253664
119UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.82641772

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002822_catalepsy3.95704793
2MP0004859_abnormal_synaptic_plasticity3.67372098
3MP0003122_maternal_imprinting3.17053126
4MP0003635_abnormal_synaptic_transmissio3.01697225
5MP0006276_abnormal_autonomic_nervous2.67539803
6MP0004270_analgesia2.67395050
7MP0009745_abnormal_behavioral_response2.60684934
8MP0002063_abnormal_learning/memory/cond2.55447584
9MP0003880_abnormal_central_pattern2.52698823
10MP0002064_seizures2.40572654
11MP0002734_abnormal_mechanical_nocicepti2.40100166
12MP0005423_abnormal_somatic_nervous2.37328402
13MP0002572_abnormal_emotion/affect_behav2.37208957
14MP0005645_abnormal_hypothalamus_physiol2.30451907
15MP0002733_abnormal_thermal_nociception2.23964024
16MP0001968_abnormal_touch/_nociception2.18407933
17MP0009780_abnormal_chondrocyte_physiolo2.14103144
18MP0009046_muscle_twitch2.13755600
19MP0002184_abnormal_innervation2.09814294
20MP0002735_abnormal_chemical_nociception2.09348626
21MP0000778_abnormal_nervous_system2.07257334
22MP0001440_abnormal_grooming_behavior2.07128485
23MP0004858_abnormal_nervous_system1.97425300
24MP0002272_abnormal_nervous_system1.96247733
25MP0001970_abnormal_pain_threshold1.93736088
26MP0002837_dystrophic_cardiac_calcinosis1.86370199
27MP0003787_abnormal_imprinting1.82264899
28MP0001501_abnormal_sleep_pattern1.79858197
29MP0001529_abnormal_vocalization1.78037096
30MP0003121_genomic_imprinting1.75820467
31MP0002638_abnormal_pupillary_reflex1.75176519
32MP0010386_abnormal_urinary_bladder1.73003307
33MP0002736_abnormal_nociception_after1.72002443
34MP0002557_abnormal_social/conspecific_i1.71075151
35MP0005646_abnormal_pituitary_gland1.66498797
36MP0003123_paternal_imprinting1.61960815
37MP0002067_abnormal_sensory_capabilities1.60240019
38MP0000955_abnormal_spinal_cord1.57983808
39MP0004811_abnormal_neuron_physiology1.52385837
40MP0000751_myopathy1.52041168
41MP0002909_abnormal_adrenal_gland1.49880403
42MP0005386_behavior/neurological_phenoty1.49756713
43MP0004924_abnormal_behavior1.49756713
44MP0001986_abnormal_taste_sensitivity1.48648960
45MP0001486_abnormal_startle_reflex1.48001868
46MP0003283_abnormal_digestive_organ1.42697499
47MP0002653_abnormal_ependyma_morphology1.33158577
48MP0001984_abnormal_olfaction1.32482495
49MP0002882_abnormal_neuron_morphology1.32444888
50MP0005551_abnormal_eye_electrophysiolog1.32103825
51MP0000013_abnormal_adipose_tissue1.30633050
52MP0001905_abnormal_dopamine_level1.25724916
53MP0004142_abnormal_muscle_tone1.24368224
54MP0000631_abnormal_neuroendocrine_gland1.23989178
55MP0002751_abnormal_autonomic_nervous1.23246434
56MP0001188_hyperpigmentation1.20916849
57MP0002066_abnormal_motor_capabilities/c1.19917556
58MP0002152_abnormal_brain_morphology1.15249960
59MP0003879_abnormal_hair_cell1.13993555
60MP0005394_taste/olfaction_phenotype1.13083512
61MP0005499_abnormal_olfactory_system1.13083512
62MP0006072_abnormal_retinal_apoptosis1.12137771
63MP0004233_abnormal_muscle_weight1.10793587
64MP0008569_lethality_at_weaning1.05564828
65MP0005253_abnormal_eye_physiology1.05466791
66MP0006292_abnormal_olfactory_placode1.04050706
67MP0001502_abnormal_circadian_rhythm1.00838579
68MP0002229_neurodegeneration1.00579493
69MP0003690_abnormal_glial_cell0.98532837
70MP0003136_yellow_coat_color0.97778170
71MP0001485_abnormal_pinna_reflex0.97504177
72MP0001177_atelectasis0.96720943
73MP0002163_abnormal_gland_morphology0.94770033
74MP0002069_abnormal_eating/drinking_beha0.93632364
75MP0004145_abnormal_muscle_electrophysio0.93343615
76MP0008877_abnormal_DNA_methylation0.91911280
77MP0003119_abnormal_digestive_system0.91648331
78MP0008789_abnormal_olfactory_epithelium0.90928012
79MP0003329_amyloid_beta_deposits0.90683667
80MP0002752_abnormal_somatic_nervous0.90240983
81MP0004885_abnormal_endolymph0.89437824
82MP0000920_abnormal_myelination0.88247435
83MP0003861_abnormal_nervous_system0.87555437
84MP0002876_abnormal_thyroid_physiology0.86778880
85MP0003632_abnormal_nervous_system0.86596384
86MP0004133_heterotaxia0.84189854
87MP0000537_abnormal_urethra_morphology0.83661302
88MP0000538_abnormal_urinary_bladder0.82620650
89MP0004085_abnormal_heartbeat0.82381559
90MP0000678_abnormal_parathyroid_gland0.82200005
91MP0003942_abnormal_urinary_system0.82013121
92MP0003011_delayed_dark_adaptation0.74710497
93MP0003385_abnormal_body_wall0.73369858
94MP0005187_abnormal_penis_morphology0.72961407
95MP0003137_abnormal_impulse_conducting0.72199932
96MP0000049_abnormal_middle_ear0.71490666
97MP0002102_abnormal_ear_morphology0.71435636
98MP0003633_abnormal_nervous_system0.70734087
99MP0001963_abnormal_hearing_physiology0.70733176
100MP0003631_nervous_system_phenotype0.70663483
101MP0005167_abnormal_blood-brain_barrier0.70565024
102MP0005379_endocrine/exocrine_gland_phen0.70448762
103MP0001943_abnormal_respiration0.70395891
104MP0000026_abnormal_inner_ear0.69110365
105MP0005195_abnormal_posterior_eye0.69024511
106MP0000534_abnormal_ureter_morphology0.68000682
107MP0003634_abnormal_glial_cell0.66919082
108MP0008872_abnormal_physiological_respon0.66245382
109MP0008961_abnormal_basal_metabolism0.66045676
110MP0002108_abnormal_muscle_morphology0.64731316
111MP0003938_abnormal_ear_development0.64535531
112MP0001299_abnormal_eye_distance/0.63920177
113MP0004742_abnormal_vestibular_system0.63350781
114MP0001270_distended_abdomen0.63190439
115MP0005171_absent_coat_pigmentation0.63016903
116MP0002234_abnormal_pharynx_morphology0.61857123
117MP0002082_postnatal_lethality0.58015421
118MP0010770_preweaning_lethality0.58015421
119MP0000604_amyloidosis0.57569310
120MP0010769_abnormal_survival0.56145487
121MP0004147_increased_porphyrin_level0.55534665

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)4.68526662
2Myokymia (HP:0002411)4.62216484
3Focal seizures (HP:0007359)3.98886244
4Atonic seizures (HP:0010819)3.98250202
5Hypothermia (HP:0002045)3.95116552
6Limb dystonia (HP:0002451)3.86981855
7Visual hallucinations (HP:0002367)3.86278064
8Failure to thrive in infancy (HP:0001531)3.40420807
9Febrile seizures (HP:0002373)3.31233733
10Polyphagia (HP:0002591)3.25370081
11Epileptic encephalopathy (HP:0200134)3.23528437
12Absence seizures (HP:0002121)3.09063173
13Abnormality of the labia minora (HP:0012880)3.06037564
14Amblyopia (HP:0000646)3.04901305
15Pheochromocytoma (HP:0002666)2.93944309
16Retinal dysplasia (HP:0007973)2.92680222
17Hyperventilation (HP:0002883)2.92449242
18Progressive cerebellar ataxia (HP:0002073)2.88186894
19Generalized tonic-clonic seizures (HP:0002069)2.85144073
20Cortical dysplasia (HP:0002539)2.83804822
21Poor suck (HP:0002033)2.79110117
22Dialeptic seizures (HP:0011146)2.76281150
23Hyperthyroidism (HP:0000836)2.74683887
24Split foot (HP:0001839)2.73550077
25Ankle clonus (HP:0011448)2.73358105
26Agitation (HP:0000713)2.64784594
27Abnormal hair whorl (HP:0010721)2.64226820
28Hypoventilation (HP:0002791)2.62352168
29Orthostatic hypotension (HP:0001278)2.57930127
30Neuroendocrine neoplasm (HP:0100634)2.56747317
31Gait imbalance (HP:0002141)2.54782097
32Insidious onset (HP:0003587)2.46013313
33Termporal pattern (HP:0011008)2.46013313
34Narrow nasal bridge (HP:0000446)2.41695613
35Pachygyria (HP:0001302)2.41320570
36Aplasia/Hypoplasia of the brainstem (HP:0007362)2.41295008
37Hypoplasia of the brainstem (HP:0002365)2.41295008
38EEG with generalized epileptiform discharges (HP:0011198)2.38587101
39Epileptiform EEG discharges (HP:0011182)2.37331952
40Hypsarrhythmia (HP:0002521)2.36049893
41Abnormality of the lower motor neuron (HP:0002366)2.35906400
42Specific learning disability (HP:0001328)2.35520807
43Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.31834661
44Broad-based gait (HP:0002136)2.31677807
45Action tremor (HP:0002345)2.29863022
46Cerebral hypomyelination (HP:0006808)2.29569777
47Abnormality of binocular vision (HP:0011514)2.29039037
48Diplopia (HP:0000651)2.29039037
49Abnormal eating behavior (HP:0100738)2.26924391
50Status epilepticus (HP:0002133)2.26477724
51Degeneration of the lateral corticospinal tracts (HP:0002314)2.25145790
52Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.25145790
53Excessive salivation (HP:0003781)2.23891117
54Drooling (HP:0002307)2.23891117
55Oligodactyly (hands) (HP:0001180)2.22789693
56Shoulder girdle muscle weakness (HP:0003547)2.20813257
57Oligomenorrhea (HP:0000876)2.20084344
58Peripheral hypomyelination (HP:0007182)2.20060911
59Depression (HP:0000716)2.19841060
60Amyotrophic lateral sclerosis (HP:0007354)2.19455867
61Acute necrotizing encephalopathy (HP:0006965)2.18525636
62Intention tremor (HP:0002080)2.18277743
63Hypoplasia of the corpus callosum (HP:0002079)2.16618934
64Abnormality of the vocal cords (HP:0008777)2.16202197
65Postural tremor (HP:0002174)2.10523219
66Anxiety (HP:0000739)2.08730837
67Morphological abnormality of the pyramidal tract (HP:0002062)2.08145359
68Lower limb muscle weakness (HP:0007340)2.05628672
69Hepatoblastoma (HP:0002884)2.04265387
70Hemiplegia (HP:0002301)2.03549077
71Abnormal mitochondria in muscle tissue (HP:0008316)2.03446559
72Generalized hypotonia (HP:0001290)2.03423477
73Neurofibrillary tangles (HP:0002185)2.03252217
74Sleep apnea (HP:0010535)2.02891251
75Testicular neoplasm (HP:0010788)2.02816198
76Optic nerve hypoplasia (HP:0000609)2.02577852
77Type II lissencephaly (HP:0007260)2.02180651
78Torticollis (HP:0000473)2.01955616
79Ulnar claw (HP:0001178)2.01724712
80True hermaphroditism (HP:0010459)2.00662973
81Medial flaring of the eyebrow (HP:0010747)1.98650541
82Fetal akinesia sequence (HP:0001989)1.97497010
83Exotropia (HP:0000577)1.96897710
84Congenital primary aphakia (HP:0007707)1.96884767
85Neoplasm of the peripheral nervous system (HP:0100007)1.96483949
86Progressive macrocephaly (HP:0004481)1.96066110
87Progressive inability to walk (HP:0002505)1.95428364
88Myotonia (HP:0002486)1.93710595
89Inability to walk (HP:0002540)1.90017618
90Intestinal atresia (HP:0011100)1.90004469
91Atrophy/Degeneration involving motor neurons (HP:0007373)1.89443605
92Esotropia (HP:0000565)1.89215725
93Hemiparesis (HP:0001269)1.88121528
94Impaired pain sensation (HP:0007328)1.88030850
95Abnormality of pain sensation (HP:0010832)1.88030850
96Megalencephaly (HP:0001355)1.87509157
97Delusions (HP:0000746)1.86925090
98Focal dystonia (HP:0004373)1.86860966
99Supranuclear gaze palsy (HP:0000605)1.81822611
100Lissencephaly (HP:0001339)1.81455644
101Septo-optic dysplasia (HP:0100842)1.81434696
102Dysmetria (HP:0001310)1.81187187
103Truncal ataxia (HP:0002078)1.81025312
104Muscular hypotonia of the trunk (HP:0008936)1.79896981
105CNS hypomyelination (HP:0003429)1.79643005
106Nephrogenic diabetes insipidus (HP:0009806)1.79351241
107Mutism (HP:0002300)1.79209661
108Akinesia (HP:0002304)1.77538994
109Abnormal autonomic nervous system physiology (HP:0012332)1.77530330
110Generalized myoclonic seizures (HP:0002123)1.77401597
111Menstrual irregularities (HP:0000858)1.77275281
112Abnormality of the corticospinal tract (HP:0002492)1.77252546
113Postural instability (HP:0002172)1.76112041
114Nephronophthisis (HP:0000090)1.74909505
115Poor coordination (HP:0002370)1.74513251
116Pancreatic fibrosis (HP:0100732)1.74471531
117Intellectual disability, severe (HP:0010864)1.74054780
118Genetic anticipation (HP:0003743)1.73750676
119Genital tract atresia (HP:0001827)1.73456488
120Neoplasm of the heart (HP:0100544)1.73161216
121Nasal speech (HP:0001611)1.70393015
122Clonus (HP:0002169)1.70053421
123Impaired vibration sensation in the lower limbs (HP:0002166)1.69431391
124Absent speech (HP:0001344)1.68598620
125Hypercortisolism (HP:0001578)1.68292964
126Urinary urgency (HP:0000012)1.65756434
127Sporadic (HP:0003745)1.64411979
128Urinary bladder sphincter dysfunction (HP:0002839)1.63559071
129Spastic gait (HP:0002064)1.63490382
130Vaginal atresia (HP:0000148)1.62630594
131Atrioventricular canal defect (HP:0006695)1.61848329
132Abnormality of calcium-phosphate metabolism (HP:0100530)1.60878096
133Poor eye contact (HP:0000817)1.60800295
134Abnormal social behavior (HP:0012433)1.59143622
135Impaired social interactions (HP:0000735)1.59143622
136Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.58346941
137Protruding tongue (HP:0010808)1.57404233
138Open mouth (HP:0000194)1.55991255
139Spastic tetraplegia (HP:0002510)1.55975013
140Labial hypoplasia (HP:0000066)1.55611504
141Dysdiadochokinesis (HP:0002075)1.55025126

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.49046160
2NTRK33.74522389
3CASK3.53825844
4MAP3K43.20280653
5NTRK22.73682488
6MAP2K72.60812770
7MAP3K122.35952422
8MINK12.31865775
9MAP3K92.31044848
10UHMK12.18869924
11GRK52.05514754
12PINK12.04795602
13MAP4K22.03486916
14MAPK131.98176393
15NTRK11.83462472
16PHKG21.81441633
17PHKG11.81441633
18PNCK1.77597866
19MAP2K41.74528685
20AKT31.74194575
21WNK31.72171000
22TRIM281.63393004
23PLK21.58848419
24DYRK21.55485918
25DAPK21.50382219
26DAPK11.48286154
27LATS21.42755722
28GRK71.37107269
29PAK61.31987660
30TSSK61.29235978
31KSR11.27647628
32SIK21.25598356
33PRKCG1.23569737
34CDK51.19504943
35NME11.14394136
36PRPF4B1.14388936
37TYRO31.13033837
38LIMK11.11487510
39SIK31.06143471
40EPHA31.04678793
41DYRK1A0.99187919
42EPHB20.99147601
43INSRR0.98760196
44CAMK2A0.98170378
45PRKD30.97871614
46CSNK1G20.95670831
47PAK30.93938539
48CDK140.91184010
49CDK180.91047985
50BCR0.90332311
51EPHA40.89206280
52CSNK1G30.85384749
53CDK150.85306188
54ERBB30.85008290
55ADRBK10.84431335
56PRKCE0.84389482
57SGK2230.80234318
58SGK4940.80234318
59KSR20.79716920
60CDK11A0.75534444
61DYRK1B0.74106826
62STK38L0.73388818
63CAMKK20.71832683
64ICK0.71353159
65FER0.66472536
66MAPK150.66431866
67RPS6KA20.64797205
68FRK0.64380424
69CAMK2B0.63219060
70MAP2K10.62902857
71NEK10.62684490
72FGFR20.62642652
73MAP3K20.61743347
74SGK20.59511051
75MAP3K60.58105477
76PDK30.57749797
77PDK40.57749797
78ARAF0.57508688
79MATK0.57487406
80BCKDK0.57431720
81BRAF0.56646958
82CAMKK10.56137845
83DYRK30.55682979
84CDK190.54685115
85BMPR1B0.53010818
86PRKCH0.51394613
87PRKCZ0.51195765
88MARK20.51078734
89OXSR10.50698824
90LMTK20.49331289
91CCNB10.48893893
92TNIK0.47258800
93RET0.46940427
94ERBB40.46178789
95CDC42BPA0.45982821
96CSNK1A10.45315350
97TESK10.44197025
98CSNK1G10.43792723
99ADRBK20.43651663
100CSNK1D0.43607913
101CAMK40.43481811
102PLK30.42941073
103CSNK1A1L0.41627054
104CAMK2G0.40914009
105PKN10.40910118
106WNK40.40494964
107PRKCI0.40480223
108CAMK10.40360402
109SGK10.39361604
110MAPK90.38871627
111RPS6KA30.38856161
112PRKACA0.38417727
113STK110.37654655
114PRKG10.37321354
115CAMK2D0.36821737
116CSNK1E0.35930008
117PRKAA10.35764821
118ROCK10.35694781
119STK380.35512372
120MAPK100.35122653
121EPHB10.34890200
122ERBB20.33421177
123GRK10.31277385
124PRKCA0.29631156
125NEK60.28299770
126PRKACB0.27875926
127ROCK20.27466642
128PRKACG0.27202486
129PRKDC0.26549029

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.58897238
2Nicotine addiction_Homo sapiens_hsa050333.38269039
3Collecting duct acid secretion_Homo sapiens_hsa049662.65422646
4GABAergic synapse_Homo sapiens_hsa047272.53046789
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.34679041
6Dopaminergic synapse_Homo sapiens_hsa047282.18778168
7Circadian entrainment_Homo sapiens_hsa047132.15912785
8Oxidative phosphorylation_Homo sapiens_hsa001902.15292591
9Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.13665363
10Amphetamine addiction_Homo sapiens_hsa050312.09279640
11Morphine addiction_Homo sapiens_hsa050322.04624274
12Vibrio cholerae infection_Homo sapiens_hsa051102.00776029
13Taste transduction_Homo sapiens_hsa047421.98648721
14Insulin secretion_Homo sapiens_hsa049111.97925747
15Serotonergic synapse_Homo sapiens_hsa047261.96854642
16Olfactory transduction_Homo sapiens_hsa047401.96397532
17Long-term potentiation_Homo sapiens_hsa047201.90072834
18Glutamatergic synapse_Homo sapiens_hsa047241.89312953
19Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.84261126
20Cholinergic synapse_Homo sapiens_hsa047251.83954971
21Cocaine addiction_Homo sapiens_hsa050301.79888046
22Parkinsons disease_Homo sapiens_hsa050121.76096055
23Long-term depression_Homo sapiens_hsa047301.75289412
24Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.60871464
25Cardiac muscle contraction_Homo sapiens_hsa042601.53699414
26Gap junction_Homo sapiens_hsa045401.47285486
27Alzheimers disease_Homo sapiens_hsa050101.47042234
28Renin secretion_Homo sapiens_hsa049241.42896231
29Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.42384587
30Axon guidance_Homo sapiens_hsa043601.41200449
31Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.39472833
32Salivary secretion_Homo sapiens_hsa049701.37382383
33Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.35412342
34Aldosterone synthesis and secretion_Homo sapiens_hsa049251.30210551
35Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.27779212
36Huntingtons disease_Homo sapiens_hsa050161.26876660
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.25615799
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.23898013
39Oxytocin signaling pathway_Homo sapiens_hsa049211.22031971
40Calcium signaling pathway_Homo sapiens_hsa040201.22025303
41Gastric acid secretion_Homo sapiens_hsa049711.21034880
42Steroid biosynthesis_Homo sapiens_hsa001001.17566687
43Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.12398137
44Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.08550277
45Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.07460240
46Melanogenesis_Homo sapiens_hsa049161.07293948
47Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.06030677
48GnRH signaling pathway_Homo sapiens_hsa049121.06026768
49Hedgehog signaling pathway_Homo sapiens_hsa043401.03800020
50Estrogen signaling pathway_Homo sapiens_hsa049151.03169481
51Oocyte meiosis_Homo sapiens_hsa041141.00687680
52Type II diabetes mellitus_Homo sapiens_hsa049300.99595273
53Type I diabetes mellitus_Homo sapiens_hsa049400.99489937
54Alcoholism_Homo sapiens_hsa050340.90107644
55Glioma_Homo sapiens_hsa052140.87660396
56Dilated cardiomyopathy_Homo sapiens_hsa054140.84688737
57cAMP signaling pathway_Homo sapiens_hsa040240.84555006
58Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.84549088
59ErbB signaling pathway_Homo sapiens_hsa040120.84388164
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.83381138
61beta-Alanine metabolism_Homo sapiens_hsa004100.80474047
62Butanoate metabolism_Homo sapiens_hsa006500.77018424
63cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75699292
64Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.75333912
65Vascular smooth muscle contraction_Homo sapiens_hsa042700.73648284
66Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.73170815
67Wnt signaling pathway_Homo sapiens_hsa043100.72426680
68Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.71128795
69Protein export_Homo sapiens_hsa030600.70415348
70Regulation of autophagy_Homo sapiens_hsa041400.70287233
71Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67344406
72Phagosome_Homo sapiens_hsa041450.67136990
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.67059466
74Endometrial cancer_Homo sapiens_hsa052130.64589490
75Ether lipid metabolism_Homo sapiens_hsa005650.64516720
76Phototransduction_Homo sapiens_hsa047440.63824019
77Glucagon signaling pathway_Homo sapiens_hsa049220.60709860
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.60656475
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.59916225
80Colorectal cancer_Homo sapiens_hsa052100.59359238
81Basal cell carcinoma_Homo sapiens_hsa052170.58762960
82Circadian rhythm_Homo sapiens_hsa047100.58620481
83Hippo signaling pathway_Homo sapiens_hsa043900.57778645
84Insulin signaling pathway_Homo sapiens_hsa049100.57513621
85Pancreatic secretion_Homo sapiens_hsa049720.57421421
86Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57276891
87Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.56986010
88Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.55602507
89Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.54488797
90Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53415027
91Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.52935749
92Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.52400021
93mTOR signaling pathway_Homo sapiens_hsa041500.52164415
94MAPK signaling pathway_Homo sapiens_hsa040100.51844610
95Phosphatidylinositol signaling system_Homo sapiens_hsa040700.51212507
96Melanoma_Homo sapiens_hsa052180.49814498
97Bile secretion_Homo sapiens_hsa049760.49645386
98Dorso-ventral axis formation_Homo sapiens_hsa043200.49492796
99Ovarian steroidogenesis_Homo sapiens_hsa049130.48480626
100Thyroid hormone synthesis_Homo sapiens_hsa049180.48281131
101Ras signaling pathway_Homo sapiens_hsa040140.48171596
102Arginine and proline metabolism_Homo sapiens_hsa003300.47732343
103Neurotrophin signaling pathway_Homo sapiens_hsa047220.47568799
104alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.45952181
105Fatty acid elongation_Homo sapiens_hsa000620.45536614
106Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45048060
107Phenylalanine metabolism_Homo sapiens_hsa003600.44984077
108Maturity onset diabetes of the young_Homo sapiens_hsa049500.44492348
109Propanoate metabolism_Homo sapiens_hsa006400.43959001
110Fatty acid metabolism_Homo sapiens_hsa012120.43542073
111Prion diseases_Homo sapiens_hsa050200.42933213
112Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.42570537
113Vitamin B6 metabolism_Homo sapiens_hsa007500.41914302
114Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41753180
115Tight junction_Homo sapiens_hsa045300.40134048
116Tyrosine metabolism_Homo sapiens_hsa003500.39212482
117Rap1 signaling pathway_Homo sapiens_hsa040150.39137031
118Choline metabolism in cancer_Homo sapiens_hsa052310.38512241
119Peroxisome_Homo sapiens_hsa041460.37581624
120Renal cell carcinoma_Homo sapiens_hsa052110.36930017
121Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36203566
122Phospholipase D signaling pathway_Homo sapiens_hsa040720.34997187
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34982602
124Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.34442121
125Linoleic acid metabolism_Homo sapiens_hsa005910.33406765
126Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33106214
127Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.32713070
128Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.31860049
129AMPK signaling pathway_Homo sapiens_hsa041520.31721520
130Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31658895

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