SLC17A7

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 vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)7.53958014
2regulation of short-term neuronal synaptic plasticity (GO:0048172)7.30810352
3locomotory exploration behavior (GO:0035641)6.88625908
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.61998734
5synaptic vesicle docking involved in exocytosis (GO:0016081)6.50551712
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.16840966
7synaptic vesicle exocytosis (GO:0016079)6.08792143
8vocalization behavior (GO:0071625)5.76441465
9* glutamate secretion (GO:0014047)5.76161276
10regulation of synaptic vesicle exocytosis (GO:2000300)5.65561268
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.64419505
12regulation of glutamate receptor signaling pathway (GO:1900449)5.36603480
13regulation of neuronal synaptic plasticity (GO:0048168)5.17702155
14protein localization to synapse (GO:0035418)5.12851696
15regulation of synaptic vesicle transport (GO:1902803)5.07715423
16exploration behavior (GO:0035640)5.01930354
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.87184287
18cerebellar granule cell differentiation (GO:0021707)4.86619831
19neuronal action potential propagation (GO:0019227)4.83988655
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.79649342
21dendritic spine morphogenesis (GO:0060997)4.65566828
22layer formation in cerebral cortex (GO:0021819)4.55132310
23* neurotransmitter secretion (GO:0007269)4.49622597
24cellular potassium ion homeostasis (GO:0030007)4.49304923
25sodium ion export (GO:0071436)4.44481929
26positive regulation of membrane potential (GO:0045838)4.39954426
27neurotransmitter-gated ion channel clustering (GO:0072578)4.26652150
28regulation of synapse structural plasticity (GO:0051823)4.23614183
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.21672511
30potassium ion homeostasis (GO:0055075)4.20725241
31central nervous system myelination (GO:0022010)4.17884557
32axon ensheathment in central nervous system (GO:0032291)4.17884557
33proline transport (GO:0015824)4.15905142
34glutamate receptor signaling pathway (GO:0007215)4.14524869
35* synaptic transmission, glutamatergic (GO:0035249)4.14268935
36negative regulation of dendrite morphogenesis (GO:0050774)4.12724178
37regulation of synaptic plasticity (GO:0048167)4.01247732
38regulation of synapse maturation (GO:0090128)3.99111479
39regulation of dendritic spine morphogenesis (GO:0061001)3.88531308
40* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.88223171
41cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.87286240
42regulation of neurotransmitter secretion (GO:0046928)3.86524774
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.83161806
44positive regulation of synapse maturation (GO:0090129)3.82305797
45* long-term memory (GO:0007616)3.81405375
46neuron cell-cell adhesion (GO:0007158)3.79938822
47synaptic vesicle endocytosis (GO:0048488)3.79904887
48regulation of ARF protein signal transduction (GO:0032012)3.76447055
49gamma-aminobutyric acid transport (GO:0015812)3.69673986
50activation of protein kinase A activity (GO:0034199)3.68092959
51* regulation of postsynaptic membrane potential (GO:0060078)3.67998689
52* neuron-neuron synaptic transmission (GO:0007270)3.66731622
53G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.66691283
54chemosensory behavior (GO:0007635)3.65761675
55cell communication by electrical coupling (GO:0010644)3.64404306
56neuromuscular process controlling balance (GO:0050885)3.62691831
57dendritic spine organization (GO:0097061)3.62609543
58* neurotransmitter transport (GO:0006836)3.61211799
59long-term synaptic potentiation (GO:0060291)3.60442819
60positive regulation of neurotransmitter secretion (GO:0001956)3.59692502
61regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.47810562
62regulation of vesicle fusion (GO:0031338)3.44756991
63vesicle docking involved in exocytosis (GO:0006904)3.44417724
64regulation of neurotransmitter transport (GO:0051588)3.43899749
65innervation (GO:0060384)3.43470382
66cerebellar Purkinje cell differentiation (GO:0021702)3.40670448
67positive regulation of neurotransmitter transport (GO:0051590)3.40465592
68neurotransmitter uptake (GO:0001504)3.40362268
69* L-amino acid import (GO:0043092)3.39303138
70cytoskeletal anchoring at plasma membrane (GO:0007016)3.37538683
71regulation of clathrin-mediated endocytosis (GO:2000369)3.35092716
72neuromuscular synaptic transmission (GO:0007274)3.30993197
73positive regulation of dendritic spine development (GO:0060999)3.29711763
74establishment of synaptic vesicle localization (GO:0097480)3.28796283
75synaptic vesicle transport (GO:0048489)3.28796283
76regulation of voltage-gated calcium channel activity (GO:1901385)3.28767346
77neuromuscular process controlling posture (GO:0050884)3.28082034
78positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.27861876
79regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.27490877
80regulation of dendritic spine development (GO:0060998)3.26346903
81* regulation of neurotransmitter levels (GO:0001505)3.25702416
82* amino acid import (GO:0043090)3.24808188
83regulation of exocytosis (GO:0017157)3.22603395
84dendrite morphogenesis (GO:0048813)3.19631439
85membrane hyperpolarization (GO:0060081)3.18227856
86cellular sodium ion homeostasis (GO:0006883)3.18079805
87vesicle docking (GO:0048278)3.17202538
88regulation of synaptic transmission (GO:0050804)3.16501640
89glycine transport (GO:0015816)3.16318598
90potassium ion import (GO:0010107)3.15674259
91positive regulation of synaptic transmission (GO:0050806)3.14679289
92positive regulation of dendritic spine morphogenesis (GO:0061003)3.14169838
93regulation of synaptic transmission, glutamatergic (GO:0051966)3.13911385
94neuron recognition (GO:0008038)3.11104160
95cell differentiation in hindbrain (GO:0021533)3.10245315
96positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.10093818
97gamma-aminobutyric acid signaling pathway (GO:0007214)3.10061203
98* membrane depolarization (GO:0051899)3.09735694
99transmission of nerve impulse (GO:0019226)3.07952777
100positive regulation of dendrite development (GO:1900006)3.06332747
101membrane depolarization during action potential (GO:0086010)3.06212918
102detection of calcium ion (GO:0005513)3.05305781
103intraspecies interaction between organisms (GO:0051703)3.03567106
104social behavior (GO:0035176)3.03567106
105positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.03424873
106negative regulation of synaptic transmission, GABAergic (GO:0032229)3.01745908
107learning (GO:0007612)3.00834125
108serotonin metabolic process (GO:0042428)2.99840586
109G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.98404683
110regulation of calcium ion-dependent exocytosis (GO:0017158)2.98256643
111long term synaptic depression (GO:0060292)2.96861496
112vesicle transport along microtubule (GO:0047496)2.96797557
113* synaptic transmission (GO:0007268)2.96419686
114neuromuscular process (GO:0050905)2.95730213
115neuronal ion channel clustering (GO:0045161)2.93161478
116axonal fasciculation (GO:0007413)2.93021893
117response to auditory stimulus (GO:0010996)2.89911793
118positive regulation of fibroblast migration (GO:0010763)2.89628374
119auditory behavior (GO:0031223)2.89518517
120postsynaptic membrane organization (GO:0001941)2.89274938

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.01866493
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.09887809
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.06799042
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.03890120
5RARB_27405468_Chip-Seq_BRAIN_Mouse2.95112630
6DROSHA_22980978_ChIP-Seq_HELA_Human2.93395717
7REST_21632747_ChIP-Seq_MESCs_Mouse2.87898009
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.84922866
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.84922866
10GBX2_23144817_ChIP-Seq_PC3_Human2.79172846
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.70814828
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.61743878
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.60306856
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.56314962
15* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48109184
16REST_18959480_ChIP-ChIP_MESCs_Mouse2.40658343
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.37514289
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.36139526
19* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.35437198
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.35311958
21EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.33703814
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.33384495
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.33186209
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.28675875
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.12829876
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.94825136
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.79637344
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.79055205
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70524857
30AR_21572438_ChIP-Seq_LNCaP_Human1.68459654
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54200440
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.50432009
33KDM2B_26808549_Chip-Seq_K562_Human1.49601700
34* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.47910212
35GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.43181858
36SMAD4_21799915_ChIP-Seq_A2780_Human1.40199451
37* RING1B_27294783_Chip-Seq_ESCs_Mouse1.39632899
38ZFP281_18757296_ChIP-ChIP_E14_Mouse1.38026481
39* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.35429076
40TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.31768689
41WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.30919452
42CTBP2_25329375_ChIP-Seq_LNCAP_Human1.30590365
43* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.28659029
44WT1_25993318_ChIP-Seq_PODOCYTE_Human1.28548913
45AR_19668381_ChIP-Seq_PC3_Human1.24921932
46CTBP1_25329375_ChIP-Seq_LNCAP_Human1.24116282
47SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.24059283
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.21490196
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19412251
50RING1B_27294783_Chip-Seq_NPCs_Mouse1.18503872
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16188329
52ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14719831
53ZNF274_21170338_ChIP-Seq_K562_Hela1.13531124
54SMAD_19615063_ChIP-ChIP_OVARY_Human1.13462055
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.13337000
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10351111
57RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.09933219
58GATA1_26923725_Chip-Seq_HPCs_Mouse1.09780770
59P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09248929
60ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08663445
61AR_25329375_ChIP-Seq_VCAP_Human1.07887075
62OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.07015393
63ESR2_21235772_ChIP-Seq_MCF-7_Human1.06743877
64KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06388900
65PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.05365010
66OCT4_19829295_ChIP-Seq_ESCs_Human1.04674064
67CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.03377169
68SMAD3_21741376_ChIP-Seq_HESCs_Human1.02764462
69STAT3_23295773_ChIP-Seq_U87_Human1.02566387
70TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01961877
71ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01742845
72SMAD3_21741376_ChIP-Seq_EPCs_Human1.00562107
73SRY_22984422_ChIP-ChIP_TESTIS_Rat1.00340348
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99988663
75CTCF_27219007_Chip-Seq_Bcells_Human0.99791700
76TET1_21490601_ChIP-Seq_MESCs_Mouse0.97398704
77YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96853310
78RNF2_27304074_Chip-Seq_NSC_Mouse0.96705627
79* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.95914199
80* DPY_21335234_ChIP-Seq_ESCs_Mouse0.93948579
81RXR_22108803_ChIP-Seq_LS180_Human0.93170802
82PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.93048511
83PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.92655032
84SMAD3_21741376_ChIP-Seq_ESCs_Human0.92416128
85P300_19829295_ChIP-Seq_ESCs_Human0.92383421
86SMAD4_21741376_ChIP-Seq_HESCs_Human0.92166073
87SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91271900
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91253999
89ARNT_22903824_ChIP-Seq_MCF-7_Human0.91242598
90TCF4_23295773_ChIP-Seq_U87_Human0.90802502
91DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90666873
92* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.90305518
93VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90229428
94LXR_22292898_ChIP-Seq_THP-1_Human0.89196159
95TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.88909525
96SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88669214
97TP53_16413492_ChIP-PET_HCT116_Human0.87324739
98SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.87227688
99SMC4_20622854_ChIP-Seq_HELA_Human0.86819759
100TOP2B_26459242_ChIP-Seq_MCF-7_Human0.86649192
101SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85834712
102AHR_22903824_ChIP-Seq_MCF-7_Human0.85603662
103CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84645175
104PRDM14_20953172_ChIP-Seq_ESCs_Human0.84297723
105* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83862455
106NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83570719
107EGR1_19032775_ChIP-ChIP_M12_Human0.83143044
108OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.82868472
109CDX2_19796622_ChIP-Seq_MESCs_Mouse0.82183122
110BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81238980
111KLF4_19829295_ChIP-Seq_ESCs_Human0.80927386
112SMAD4_21741376_ChIP-Seq_ESCs_Human0.80411929
113PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.80366600
114ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.79558598
115TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.78546936
116RUNX1_26923725_Chip-Seq_HPCs_Mouse0.78195779
117* KDM2B_26808549_Chip-Seq_JURKAT_Human0.77954041
118CBX2_27304074_Chip-Seq_ESCs_Mouse0.77532379
119SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.77529290
120* CREB1_26743006_Chip-Seq_LNCaP_Human0.76650057
121TP53_20018659_ChIP-ChIP_R1E_Mouse0.74158389
122* MYC_19915707_ChIP-ChIP_AK7_Human0.73956276
123TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.72550764
124KDM2B_26808549_Chip-Seq_DND41_Human0.71549253
125* P68_20966046_ChIP-Seq_HELA_Human0.71145667
126GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.70205725
127TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.68391377
128TP53_23651856_ChIP-Seq_MEFs_Mouse0.67745314

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity8.41576210
2MP0003880_abnormal_central_pattern4.57172329
3* MP0003635_abnormal_synaptic_transmissio4.53740120
4* MP0002063_abnormal_learning/memory/cond3.54914912
5MP0009745_abnormal_behavioral_response3.50324881
6MP0002064_seizures3.37680562
7* MP0004270_analgesia3.18375742
8MP0009046_muscle_twitch3.05691139
9MP0005423_abnormal_somatic_nervous2.95868297
10MP0001968_abnormal_touch/_nociception2.92296631
11* MP0002572_abnormal_emotion/affect_behav2.74501300
12* MP0002272_abnormal_nervous_system2.57080017
13* MP0001486_abnormal_startle_reflex2.47277116
14* MP0002734_abnormal_mechanical_nocicepti2.40576642
15MP0009780_abnormal_chondrocyte_physiolo2.30089732
16MP0001501_abnormal_sleep_pattern2.25955648
17MP0004858_abnormal_nervous_system2.21190117
18MP0002822_catalepsy2.16721560
19MP0002736_abnormal_nociception_after2.12483522
20MP0003329_amyloid_beta_deposits2.00465767
21MP0001440_abnormal_grooming_behavior1.99509307
22MP0002735_abnormal_chemical_nociception1.99373273
23* MP0008569_lethality_at_weaning1.97919069
24MP0004811_abnormal_neuron_physiology1.94795004
25MP0005551_abnormal_eye_electrophysiolog1.93329849
26MP0001970_abnormal_pain_threshold1.83047332
27MP0003879_abnormal_hair_cell1.82057733
28MP0002067_abnormal_sensory_capabilities1.79573449
29MP0002733_abnormal_thermal_nociception1.75457498
30MP0004885_abnormal_endolymph1.67524480
31MP0002557_abnormal_social/conspecific_i1.62156877
32MP0002184_abnormal_innervation1.62045410
33MP0002909_abnormal_adrenal_gland1.57599186
34MP0000778_abnormal_nervous_system1.56812117
35* MP0002882_abnormal_neuron_morphology1.53649199
36MP0003075_altered_response_to1.51966801
37MP0003123_paternal_imprinting1.51948563
38MP0005386_behavior/neurological_phenoty1.51606588
39MP0004924_abnormal_behavior1.51606588
40MP0000955_abnormal_spinal_cord1.50684856
41* MP0002066_abnormal_motor_capabilities/c1.40620867
42* MP0003633_abnormal_nervous_system1.38123270
43MP0001502_abnormal_circadian_rhythm1.28776193
44MP0005646_abnormal_pituitary_gland1.26309815
45MP0003787_abnormal_imprinting1.22596594
46MP0002229_neurodegeneration1.19685868
47* MP0003631_nervous_system_phenotype1.18985412
48MP0001984_abnormal_olfaction1.16963395
49MP0004510_myositis1.10411054
50MP0002152_abnormal_brain_morphology1.09966108
51MP0008961_abnormal_basal_metabolism1.08156575
52MP0004147_increased_porphyrin_level1.07170552
53MP0008872_abnormal_physiological_respon1.06983961
54MP0000569_abnormal_digit_pigmentation1.03085548
55MP0000751_myopathy1.01694646
56MP0001177_atelectasis1.01254963
57MP0005253_abnormal_eye_physiology1.00731468
58MP0003690_abnormal_glial_cell0.96626483
59MP0001346_abnormal_lacrimal_gland0.95795850
60MP0001905_abnormal_dopamine_level0.95536674
61MP0004142_abnormal_muscle_tone0.94471436
62MP0008874_decreased_physiological_sensi0.94354404
63MP0006072_abnormal_retinal_apoptosis0.93374825
64MP0000604_amyloidosis0.92897084
65MP0001348_abnormal_lacrimal_gland0.92780602
66MP0003632_abnormal_nervous_system0.92668202
67MP0003283_abnormal_digestive_organ0.91106431
68MP0010234_abnormal_vibrissa_follicle0.90814644
69MP0005167_abnormal_blood-brain_barrier0.89894380
70* MP0002069_abnormal_eating/drinking_beha0.89530262
71MP0001485_abnormal_pinna_reflex0.88593071
72MP0004145_abnormal_muscle_electrophysio0.88551088
73MP0000920_abnormal_myelination0.88075074
74MP0005645_abnormal_hypothalamus_physiol0.87268141
75MP0003634_abnormal_glial_cell0.85583575
76MP0005535_abnormal_body_temperature0.85059784
77MP0001986_abnormal_taste_sensitivity0.81516355
78MP0008877_abnormal_DNA_methylation0.81177383
79MP0002752_abnormal_somatic_nervous0.79936086
80MP0004215_abnormal_myocardial_fiber0.79328626
81MP0001963_abnormal_hearing_physiology0.77874208
82MP0004085_abnormal_heartbeat0.77410164
83MP0006276_abnormal_autonomic_nervous0.77203449
84MP0010386_abnormal_urinary_bladder0.77041272
85MP0003172_abnormal_lysosome_physiology0.75619844
86MP0004484_altered_response_of0.75224925
87MP0004233_abnormal_muscle_weight0.75208724
88MP0005623_abnormal_meninges_morphology0.71906406
89MP0005394_taste/olfaction_phenotype0.70878092
90MP0005499_abnormal_olfactory_system0.70878092
91* MP0002090_abnormal_vision0.66960428
92MP0004742_abnormal_vestibular_system0.66890137
93MP0004130_abnormal_muscle_cell0.66063559
94MP0005166_decreased_susceptibility_to0.64148542
95MP0002638_abnormal_pupillary_reflex0.63620390
96MP0003011_delayed_dark_adaptation0.62670194
97MP0001529_abnormal_vocalization0.61857163
98MP0004043_abnormal_pH_regulation0.59634236
99MP0005195_abnormal_posterior_eye0.59008987
100MP0000013_abnormal_adipose_tissue0.58598740
101MP0003137_abnormal_impulse_conducting0.57247129
102MP0002089_abnormal_postnatal_growth/wei0.55155771
103MP0001664_abnormal_digestion0.54009107
104MP0003122_maternal_imprinting0.52120506
105MP0001188_hyperpigmentation0.51465240
106* MP0010769_abnormal_survival0.51034513
107MP0001943_abnormal_respiration0.50553751
108MP0000579_abnormal_nail_morphology0.50019890
109MP0003861_abnormal_nervous_system0.49429722
110* MP0010768_mortality/aging0.49405414
111MP0002082_postnatal_lethality0.49396256
112MP0010770_preweaning_lethality0.49396256
113MP0005187_abnormal_penis_morphology0.49090232
114* MP0003956_abnormal_body_size0.47997443
115MP0002873_normal_phenotype0.45443212
116MP0003121_genomic_imprinting0.44800888
117MP0000026_abnormal_inner_ear0.44650656
118MP0003045_fibrosis0.44152185
119MP0003183_abnormal_peptide_metabolism0.44097935
120MP0002169_no_abnormal_phenotype0.43777636
121MP0001765_abnormal_ion_homeostasis0.42681906

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.89628501
2Focal motor seizures (HP:0011153)7.45926933
3Visual hallucinations (HP:0002367)5.94650130
4Focal seizures (HP:0007359)5.76239838
5Epileptic encephalopathy (HP:0200134)4.95347941
6Progressive cerebellar ataxia (HP:0002073)4.72887617
7Action tremor (HP:0002345)4.55568698
8Febrile seizures (HP:0002373)4.53233842
9Atonic seizures (HP:0010819)4.43234877
10Absence seizures (HP:0002121)3.99239047
11Generalized tonic-clonic seizures (HP:0002069)3.86221165
12Cerebral hypomyelination (HP:0006808)3.82109831
13Impaired vibration sensation in the lower limbs (HP:0002166)3.78640355
14Gaze-evoked nystagmus (HP:0000640)3.68146094
15Abnormality of the lower motor neuron (HP:0002366)3.61805750
16Dialeptic seizures (HP:0011146)3.61424249
17Ankle clonus (HP:0011448)3.54908982
18Depression (HP:0000716)3.53915095
19Supranuclear gaze palsy (HP:0000605)3.51682669
20Dysdiadochokinesis (HP:0002075)3.50812679
21Papilledema (HP:0001085)3.46982165
22Poor eye contact (HP:0000817)3.44387711
23Dysmetria (HP:0001310)3.42475001
24Postural instability (HP:0002172)3.39777685
25Broad-based gait (HP:0002136)3.37336436
26Limb dystonia (HP:0002451)3.35763368
27Urinary bladder sphincter dysfunction (HP:0002839)3.25417290
28Ventricular fibrillation (HP:0001663)3.16936562
29Abnormal social behavior (HP:0012433)3.09240870
30Impaired social interactions (HP:0000735)3.09240870
31Impaired smooth pursuit (HP:0007772)3.09035955
32Genetic anticipation (HP:0003743)3.07207133
33Central scotoma (HP:0000603)3.04430257
34Mutism (HP:0002300)3.02970149
35Intention tremor (HP:0002080)3.02473285
36Congenital stationary night blindness (HP:0007642)3.01487450
37Amblyopia (HP:0000646)2.99897747
38Anxiety (HP:0000739)2.95236530
39Truncal ataxia (HP:0002078)2.93035308
40Hemiplegia (HP:0002301)2.92906027
41Akinesia (HP:0002304)2.86225312
42Bundle branch block (HP:0011710)2.84686923
43Annular pancreas (HP:0001734)2.84518573
44Urinary urgency (HP:0000012)2.77372533
45Abnormality of ocular smooth pursuit (HP:0000617)2.74420665
46Abnormal eating behavior (HP:0100738)2.71486142
47Impaired vibratory sensation (HP:0002495)2.65461869
48Megalencephaly (HP:0001355)2.65311713
49Bradykinesia (HP:0002067)2.61442617
50Spastic gait (HP:0002064)2.59110244
51Focal dystonia (HP:0004373)2.58308799
52Dysmetric saccades (HP:0000641)2.57620697
53Peripheral hypomyelination (HP:0007182)2.57453541
54Stereotypic behavior (HP:0000733)2.56357558
55Abnormality of macular pigmentation (HP:0008002)2.56319522
56Torticollis (HP:0000473)2.55593894
57Sleep apnea (HP:0010535)2.52131795
58Hemiparesis (HP:0001269)2.51255982
59Spastic tetraparesis (HP:0001285)2.51249672
60Scanning speech (HP:0002168)2.48464118
61Diplopia (HP:0000651)2.45004169
62Abnormality of binocular vision (HP:0011514)2.45004169
63Hyperventilation (HP:0002883)2.43902838
64Diminished motivation (HP:0000745)2.38054886
65Pointed chin (HP:0000307)2.34843829
66CNS hypomyelination (HP:0003429)2.33845384
67Insomnia (HP:0100785)2.33624854
68Choreoathetosis (HP:0001266)2.32843929
69Scotoma (HP:0000575)2.31214405
70Status epilepticus (HP:0002133)2.30366531
71Excessive salivation (HP:0003781)2.25859966
72Drooling (HP:0002307)2.25859966
73Epileptiform EEG discharges (HP:0011182)2.20688845
74Generalized myoclonic seizures (HP:0002123)2.20682126
75Neurofibrillary tangles (HP:0002185)2.19919627
76Obstructive sleep apnea (HP:0002870)2.16859749
77Bony spicule pigmentary retinopathy (HP:0007737)2.16686263
78Cerebral inclusion bodies (HP:0100314)2.16407841
79EEG with generalized epileptiform discharges (HP:0011198)2.12942447
80Degeneration of the lateral corticospinal tracts (HP:0002314)2.11215344
81Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.11215344
82Absent speech (HP:0001344)2.08656369
83Lower limb muscle weakness (HP:0007340)2.08221330
84Lower limb asymmetry (HP:0100559)2.07348797
85Craniofacial dystonia (HP:0012179)2.07159326
86Hypsarrhythmia (HP:0002521)2.04833145
87Abnormality of the periventricular white matter (HP:0002518)2.04403383
88Progressive inability to walk (HP:0002505)2.04274953
89Gait ataxia (HP:0002066)2.03099551
90Morphological abnormality of the pyramidal tract (HP:0002062)2.01422315
91Incomplete penetrance (HP:0003829)2.00968973
92Polyphagia (HP:0002591)2.00695672
93Delusions (HP:0000746)1.99005711
94Fetal akinesia sequence (HP:0001989)1.97574546
95Memory impairment (HP:0002354)1.97170008
96Increased circulating renin level (HP:0000848)1.94714787
97Abnormality of saccadic eye movements (HP:0000570)1.94530327
98Lower limb amyotrophy (HP:0007210)1.93480180
99Rapidly progressive (HP:0003678)1.91457713
100Choroideremia (HP:0001139)1.90249688
101Clonus (HP:0002169)1.90222841
102Intellectual disability, profound (HP:0002187)1.89007230
103Insidious onset (HP:0003587)1.87421253
104Termporal pattern (HP:0011008)1.87421253
105Rigidity (HP:0002063)1.87038329
106Abnormal rod and cone electroretinograms (HP:0008323)1.86497423
107Slow saccadic eye movements (HP:0000514)1.83851058
108Abnormal EKG (HP:0003115)1.83559611
109Apathy (HP:0000741)1.78744673
110Unsteady gait (HP:0002317)1.77471993
111Dementia (HP:0000726)1.76593777
112Tetraplegia (HP:0002445)1.76553113
113Heart block (HP:0012722)1.76264822
114Hand muscle atrophy (HP:0009130)1.75968474
115Agitation (HP:0000713)1.74035768
116Abnormality of the corticospinal tract (HP:0002492)1.73183553
117Split foot (HP:0001839)1.72808836
118Spinal canal stenosis (HP:0003416)1.72174618
119Upper limb amyotrophy (HP:0009129)1.71910912
120Distal upper limb amyotrophy (HP:0007149)1.71910912
121Bronchomalacia (HP:0002780)1.70248373
122Ankyloglossia (HP:0010296)1.69925065
123Achilles tendon contracture (HP:0001771)1.69317718
124Absent rod-and cone-mediated responses on ERG (HP:0007688)1.68681191
125Neuronal loss in central nervous system (HP:0002529)1.68320434

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.38617621
2NTRK34.23222414
3MAP3K94.21877735
4DAPK23.39801045
5PRKD33.21085396
6PAK62.86363477
7MINK12.71692888
8MAP3K42.62814488
9KSR22.49893414
10CAMKK12.38118105
11MARK12.23118225
12MAP2K72.02975099
13DAPK11.90968121
14STK381.80163112
15NTRK21.77624619
16NTRK11.73682564
17MAP2K41.71811342
18PRPF4B1.66235537
19CDK51.62733780
20KSR11.61065862
21RIPK41.59797075
22CDK191.54017033
23MAP3K131.45056093
24GRK51.44620332
25TYRO31.39688952
26MAP3K121.37716816
27PLK21.37168896
28ARAF1.37018179
29CAMK11.35445347
30MAP3K21.34881905
31SIK21.29941599
32TAOK11.29184303
33PRKCG1.25862835
34PINK11.16329838
35UHMK11.10206687
36ALK1.10001965
37FES1.09550603
38PRKCH1.08357984
39TNIK1.06597967
40STK111.05650941
41RIPK10.99601700
42PDK10.97106668
43RAF10.96543518
44PTK2B0.96207280
45CDK150.94609830
46CDK180.93790275
47CAMKK20.92738581
48LATS20.87157370
49MAPK130.86134274
50CAMK2A0.85081914
51CDK140.84724795
52RET0.84122840
53PNCK0.83582078
54CDK11A0.82985829
55PAK30.82081301
56SGK4940.81975088
57SGK2230.81975088
58MAP3K70.81440413
59LMTK20.78586090
60PDPK10.77225713
61NEK10.77060808
62MAP3K110.73694144
63SGK30.72465110
64CAMK40.71256026
65PHKG20.69176460
66PHKG10.69176460
67BRSK10.67949204
68MAP3K10.67911352
69SGK10.66148406
70PKN10.65341748
71DYRK1A0.65317801
72BRAF0.64860452
73DAPK30.64284433
74OXSR10.62712476
75LIMK10.62531790
76SGK20.62238669
77MARK20.60270513
78CAMK2B0.59549584
79CAMK1G0.57425560
80DMPK0.54544409
81RPS6KA30.53895178
82NEK60.51633484
83TESK10.50430314
84BMPR20.49416920
85TNK20.49345714
86PRKCZ0.48465883
87CDC42BPA0.47991229
88FYN0.43190482
89MAPK100.42538590
90ROCK20.42270652
91FGFR20.41829362
92CSNK1G20.40103629
93NME10.39884169
94SCYL20.39642905
95CASK0.38949704
96PRKG20.37519321
97MAP2K10.37072327
98DDR20.36096385
99CAMK2G0.34964795
100CCNB10.34369372
101CAMK2D0.33686467
102MAP2K60.32863028
103FER0.32655873
104PRKCB0.32019102
105MAPK120.30868179
106PRKD20.28234625
107PRKCA0.28080258
108IRAK20.27484014
109PRKCE0.26908061
110ERBB20.26708729
111ROCK10.26567276
112MAPK80.25830420
113WNK10.25527371
114JAK20.24728296
115CAMK1D0.23484918

Predicted pathways (KEGG)

RankGene SetZ-score
1* Synaptic vesicle cycle_Homo sapiens_hsa047213.21761309
2* Nicotine addiction_Homo sapiens_hsa050332.94784762
3Olfactory transduction_Homo sapiens_hsa047402.91094908
4Long-term potentiation_Homo sapiens_hsa047202.74684629
5Circadian entrainment_Homo sapiens_hsa047132.74021825
6* Glutamatergic synapse_Homo sapiens_hsa047242.54243619
7GABAergic synapse_Homo sapiens_hsa047272.50371578
8* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.39940862
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.38043236
10Amphetamine addiction_Homo sapiens_hsa050312.37131448
11Morphine addiction_Homo sapiens_hsa050322.28518848
12Phototransduction_Homo sapiens_hsa047442.26357669
13Salivary secretion_Homo sapiens_hsa049702.26285130
14Insulin secretion_Homo sapiens_hsa049112.16755215
15Gastric acid secretion_Homo sapiens_hsa049712.09734249
16Nitrogen metabolism_Homo sapiens_hsa009102.05887281
17Aldosterone synthesis and secretion_Homo sapiens_hsa049252.05301362
18Dopaminergic synapse_Homo sapiens_hsa047282.00157266
19Cholinergic synapse_Homo sapiens_hsa047251.98955350
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.80488127
21Oxytocin signaling pathway_Homo sapiens_hsa049211.76080698
22Vitamin B6 metabolism_Homo sapiens_hsa007501.75741887
23Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.65927235
24Calcium signaling pathway_Homo sapiens_hsa040201.56280114
25Long-term depression_Homo sapiens_hsa047301.54689672
26GnRH signaling pathway_Homo sapiens_hsa049121.54151971
27Renin secretion_Homo sapiens_hsa049241.44439404
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.38268495
29Glioma_Homo sapiens_hsa052141.36236791
30Taste transduction_Homo sapiens_hsa047421.35401564
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33453980
32Serotonergic synapse_Homo sapiens_hsa047261.31576642
33Type II diabetes mellitus_Homo sapiens_hsa049301.30288358
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.28678095
35cAMP signaling pathway_Homo sapiens_hsa040241.27760810
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.27126684
37Cocaine addiction_Homo sapiens_hsa050301.20032558
38Gap junction_Homo sapiens_hsa045401.19832201
39Estrogen signaling pathway_Homo sapiens_hsa049151.14940866
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13225222
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.11365932
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.08923570
43ErbB signaling pathway_Homo sapiens_hsa040121.07988513
44Melanogenesis_Homo sapiens_hsa049161.05382955
45Collecting duct acid secretion_Homo sapiens_hsa049660.97407624
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.93161518
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.92383719
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.92106613
49Oocyte meiosis_Homo sapiens_hsa041140.91260894
50Pancreatic secretion_Homo sapiens_hsa049720.90960358
51Axon guidance_Homo sapiens_hsa043600.88362607
52Thyroid hormone synthesis_Homo sapiens_hsa049180.85360785
53Dorso-ventral axis formation_Homo sapiens_hsa043200.83307911
54Cardiac muscle contraction_Homo sapiens_hsa042600.82352399
55Carbohydrate digestion and absorption_Homo sapiens_hsa049730.81858959
56VEGF signaling pathway_Homo sapiens_hsa043700.81193337
57Dilated cardiomyopathy_Homo sapiens_hsa054140.77169522
58Choline metabolism in cancer_Homo sapiens_hsa052310.76122353
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73641811
60Neurotrophin signaling pathway_Homo sapiens_hsa047220.70611526
61mTOR signaling pathway_Homo sapiens_hsa041500.69686865
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69481446
63MAPK signaling pathway_Homo sapiens_hsa040100.68273360
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.67366430
65Glucagon signaling pathway_Homo sapiens_hsa049220.65649881
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65525121
67Bile secretion_Homo sapiens_hsa049760.62340071
68Endocytosis_Homo sapiens_hsa041440.62002420
69Vibrio cholerae infection_Homo sapiens_hsa051100.59009135
70Inositol phosphate metabolism_Homo sapiens_hsa005620.58910417
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.56899866
72Rap1 signaling pathway_Homo sapiens_hsa040150.55716134
73Ras signaling pathway_Homo sapiens_hsa040140.55035350
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53103605
75Non-small cell lung cancer_Homo sapiens_hsa052230.52504237
76Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51211779
77Arginine and proline metabolism_Homo sapiens_hsa003300.48024636
78Circadian rhythm_Homo sapiens_hsa047100.47592715
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47357754
80Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.44719664
81Endometrial cancer_Homo sapiens_hsa052130.44218118
82Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43880898
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42377895
84African trypanosomiasis_Homo sapiens_hsa051430.42123912
85Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.41656866
86Chemokine signaling pathway_Homo sapiens_hsa040620.40443057
87Insulin signaling pathway_Homo sapiens_hsa049100.39278679
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39182737
89Prion diseases_Homo sapiens_hsa050200.39035090
90Wnt signaling pathway_Homo sapiens_hsa043100.38829897
91Arginine biosynthesis_Homo sapiens_hsa002200.38824592
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37577115
93Type I diabetes mellitus_Homo sapiens_hsa049400.37123732
94Renal cell carcinoma_Homo sapiens_hsa052110.37056576
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.34541845
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33331862
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33178900
98Fatty acid biosynthesis_Homo sapiens_hsa000610.33176880
99Mineral absorption_Homo sapiens_hsa049780.33091028
100Histidine metabolism_Homo sapiens_hsa003400.32864415
101Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32687187
102Central carbon metabolism in cancer_Homo sapiens_hsa052300.32306982
103Alcoholism_Homo sapiens_hsa050340.31589894
104HIF-1 signaling pathway_Homo sapiens_hsa040660.29279458
105Alzheimers disease_Homo sapiens_hsa050100.29178236
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28009614
107Ovarian steroidogenesis_Homo sapiens_hsa049130.26814551
108Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.21637344
109Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.20543413
110Tight junction_Homo sapiens_hsa045300.19516512
111beta-Alanine metabolism_Homo sapiens_hsa004100.18059009
112AMPK signaling pathway_Homo sapiens_hsa041520.17699986
113Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.14695646
1142-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.13384804

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