SLC6A7

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 is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.88301117
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.26543198
3glutamate secretion (GO:0014047)5.63388231
4locomotory exploration behavior (GO:0035641)5.52482045
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.52220843
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.37011562
7vocalization behavior (GO:0071625)5.34942876
8synaptic vesicle exocytosis (GO:0016079)5.27962065
9L-amino acid import (GO:0043092)5.21375002
10regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)5.16519102
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.14503020
12regulation of synaptic vesicle exocytosis (GO:2000300)4.84840591
13protein localization to synapse (GO:0035418)4.84238438
14regulation of glutamate receptor signaling pathway (GO:1900449)4.81034168
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.80090211
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.71848394
17amino acid import (GO:0043090)4.58329390
18potassium ion homeostasis (GO:0055075)4.49321905
19neurotransmitter secretion (GO:0007269)4.41872114
20neuron cell-cell adhesion (GO:0007158)4.40249916
21synaptic transmission, glutamatergic (GO:0035249)4.39305560
22exploration behavior (GO:0035640)4.38757697
23regulation of synaptic vesicle transport (GO:1902803)4.35432089
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.28157419
25potassium ion import (GO:0010107)4.26529635
26regulation of synapse maturation (GO:0090128)4.19232911
27regulation of neuronal synaptic plasticity (GO:0048168)4.19218009
28glutamate receptor signaling pathway (GO:0007215)4.18705901
29neuronal action potential propagation (GO:0019227)4.15006324
30positive regulation of dendritic spine development (GO:0060999)4.12555215
31layer formation in cerebral cortex (GO:0021819)4.11339010
32regulation of voltage-gated calcium channel activity (GO:1901385)4.06296200
33cellular sodium ion homeostasis (GO:0006883)4.03172516
34central nervous system myelination (GO:0022010)3.98165516
35axon ensheathment in central nervous system (GO:0032291)3.98165516
36regulation of ARF protein signal transduction (GO:0032012)3.97766628
37daunorubicin metabolic process (GO:0044597)3.96414874
38polyketide metabolic process (GO:0030638)3.96414874
39doxorubicin metabolic process (GO:0044598)3.96414874
40regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.95397883
41negative regulation of dendrite morphogenesis (GO:0050774)3.91123386
42neuron-neuron synaptic transmission (GO:0007270)3.90179599
43gamma-aminobutyric acid transport (GO:0015812)3.88865102
44dendritic spine morphogenesis (GO:0060997)3.87965793
45cell communication by electrical coupling (GO:0010644)3.85766755
46* proline transport (GO:0015824)3.77833112
47neuron recognition (GO:0008038)3.71942907
48positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.71045944
49neurotransmitter-gated ion channel clustering (GO:0072578)3.66831197
50* neurotransmitter transport (GO:0006836)3.65757160
51positive regulation of dendritic spine morphogenesis (GO:0061003)3.64308879
52long-term memory (GO:0007616)3.62887635
53synaptic vesicle endocytosis (GO:0048488)3.58098429
54membrane depolarization during action potential (GO:0086010)3.53748034
55regulation of excitatory postsynaptic membrane potential (GO:0060079)3.53528588
56regulation of synapse structural plasticity (GO:0051823)3.46424802
57axonal fasciculation (GO:0007413)3.46392380
58behavioral defense response (GO:0002209)3.46287510
59behavioral fear response (GO:0001662)3.46287510
60regulation of neurotransmitter levels (GO:0001505)3.45932475
61cytoskeletal anchoring at plasma membrane (GO:0007016)3.44880326
62gamma-aminobutyric acid signaling pathway (GO:0007214)3.44183993
63positive regulation of membrane potential (GO:0045838)3.43316491
64regulation of postsynaptic membrane potential (GO:0060078)3.40197769
65cellular potassium ion homeostasis (GO:0030007)3.40163453
66neurotransmitter uptake (GO:0001504)3.38999735
67response to histamine (GO:0034776)3.36210942
68regulation of synaptic plasticity (GO:0048167)3.35643199
69acidic amino acid transport (GO:0015800)3.35422612
70positive regulation of synapse maturation (GO:0090129)3.33946402
71calcium-mediated signaling using intracellular calcium source (GO:0035584)3.29326175
72vesicle docking involved in exocytosis (GO:0006904)3.28365690
73sodium ion export (GO:0071436)3.27139958
74detection of calcium ion (GO:0005513)3.26544577
75regulation of dendritic spine morphogenesis (GO:0061001)3.24034636
76regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.22048608
77positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.21673115
78transmission of nerve impulse (GO:0019226)3.19646351
79synaptic vesicle transport (GO:0048489)3.18472669
80establishment of synaptic vesicle localization (GO:0097480)3.18472669
81regulation of exocytosis (GO:0017157)3.18277351
82neuromuscular process controlling balance (GO:0050885)3.17804610
83maintenance of protein location in nucleus (GO:0051457)3.17390782
84long-term synaptic potentiation (GO:0060291)3.16989314
85fear response (GO:0042596)3.16762096
86membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.16438127
87cell differentiation in hindbrain (GO:0021533)3.14024758
88response to dietary excess (GO:0002021)3.13248211
89neuromuscular process controlling posture (GO:0050884)3.12273710
90regulation of synaptic transmission, glutamatergic (GO:0051966)3.11273960
91regulation of neurotransmitter secretion (GO:0046928)3.10932589
92auditory behavior (GO:0031223)3.10681238
93neuromuscular process (GO:0050905)3.10556540
94activation of protein kinase A activity (GO:0034199)3.08607064
95cell communication involved in cardiac conduction (GO:0086065)3.08442348
96G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.08088434
97positive regulation of synaptic transmission, GABAergic (GO:0032230)3.07600257
98dicarboxylic acid transport (GO:0006835)3.07202820
99neuromuscular synaptic transmission (GO:0007274)3.05997513
100vesicle docking (GO:0048278)3.05763209
101negative regulation of synaptic transmission, GABAergic (GO:0032229)3.05700361
102postsynaptic membrane organization (GO:0001941)3.02536539
103signal release (GO:0023061)3.01799694
104positive regulation of dendrite development (GO:1900006)3.00896545
105positive regulation of neurotransmitter secretion (GO:0001956)3.00195593
106acid secretion (GO:0046717)2.96248526
107cerebellar granule cell differentiation (GO:0021707)2.93571176
108G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.93426472
109cerebellar Purkinje cell differentiation (GO:0021702)2.92855483
110response to auditory stimulus (GO:0010996)2.89762912
111innervation (GO:0060384)2.89360967
112synaptic transmission (GO:0007268)2.87890817
113microtubule severing (GO:0051013)2.86988979
114positive regulation of neurotransmitter transport (GO:0051590)2.86410761
115cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.86305475
116glycine transport (GO:0015816)2.86260057
117membrane depolarization (GO:0051899)2.85758198
118regulation of vesicle fusion (GO:0031338)2.85227217
119mitochondrion distribution (GO:0048311)2.83964027
120positive regulation of synaptic transmission (GO:0050806)2.82220309
121regulation of MHC class I biosynthetic process (GO:0045343)2.80443038
122learning (GO:0007612)2.79876254
123regulation of neurotransmitter transport (GO:0051588)2.79632023
124regulation of synaptic transmission (GO:0050804)2.78994884
125regulation of dendritic spine development (GO:0060998)2.78114035
126regulation of clathrin-mediated endocytosis (GO:2000369)2.77893560
127intraspecies interaction between organisms (GO:0051703)2.77800774
128social behavior (GO:0035176)2.77800774
129dendritic spine organization (GO:0097061)2.75909466
130negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.75526483
131membrane hyperpolarization (GO:0060081)2.74160678
132neuronal ion channel clustering (GO:0045161)2.72062617
133synapse organization (GO:0050808)2.71669420

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.73700283
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.97562490
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.81091271
4REST_21632747_ChIP-Seq_MESCs_Mouse2.77181661
5IKZF1_21737484_ChIP-ChIP_HCT116_Human2.73417813
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.72090014
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.72090014
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.71428943
9GBX2_23144817_ChIP-Seq_PC3_Human2.65908972
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.65659264
11RARB_27405468_Chip-Seq_BRAIN_Mouse2.56923600
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.50050612
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.36142140
14BP1_19119308_ChIP-ChIP_Hs578T_Human2.31200486
15EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.30982557
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.30700753
17REST_18959480_ChIP-ChIP_MESCs_Mouse2.30551308
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.30025224
19* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.30001197
20MTF2_20144788_ChIP-Seq_MESCs_Mouse2.29032649
21KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.16251394
22KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.16251394
23KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.16251394
24SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.15558485
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.12702806
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.05144018
27DROSHA_22980978_ChIP-Seq_HELA_Human2.04774604
28SUZ12_27294783_Chip-Seq_ESCs_Mouse2.01183259
29EZH2_27294783_Chip-Seq_ESCs_Mouse1.95370191
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.91981846
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.91362064
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.87962452
33EED_16625203_ChIP-ChIP_MESCs_Mouse1.83726842
34CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.81071944
35* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.79922147
36RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.72991375
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.71348825
38PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.59423896
39* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.56913969
40RNF2_27304074_Chip-Seq_NSC_Mouse1.49459605
41IGF1R_20145208_ChIP-Seq_DFB_Human1.47000321
42ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.46776061
43* NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.46235051
44RING1B_27294783_Chip-Seq_NPCs_Mouse1.40852557
45KDM2B_26808549_Chip-Seq_K562_Human1.37632981
46* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.37375995
47* RING1B_27294783_Chip-Seq_ESCs_Mouse1.34619010
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.34060257
49CTBP2_25329375_ChIP-Seq_LNCAP_Human1.33163348
50WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.29826023
51* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.29385548
52SMAD4_21799915_ChIP-Seq_A2780_Human1.28495982
53CTCF_27219007_Chip-Seq_Bcells_Human1.27773899
54SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.26551578
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.26184182
56DNAJC2_21179169_ChIP-ChIP_NT2_Human1.24701684
57BMI1_23680149_ChIP-Seq_NPCS_Mouse1.24632808
58TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20528234
59RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.20404003
60SOX2_21211035_ChIP-Seq_LN229_Gbm1.19554481
61EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.19552997
62LXR_22292898_ChIP-Seq_THP-1_Human1.18806614
63ESR2_21235772_ChIP-Seq_MCF-7_Human1.17128864
64WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16497375
65MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.14981003
66AR_19668381_ChIP-Seq_PC3_Human1.14239065
67SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.11985641
68SMAD3_21741376_ChIP-Seq_HESCs_Human1.10937592
69AR_21572438_ChIP-Seq_LNCaP_Human1.10264673
70P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09263437
71* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.07684869
72STAT3_23295773_ChIP-Seq_U87_Human1.07539549
73* NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.05825152
74OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.04836818
75SRY_22984422_ChIP-ChIP_TESTIS_Rat1.04306673
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.03556633
77* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.03369904
78OCT4_19829295_ChIP-Seq_ESCs_Human1.01998051
79ARNT_22903824_ChIP-Seq_MCF-7_Human1.01892762
80AHR_22903824_ChIP-Seq_MCF-7_Human1.01704337
81PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.99865217
82SMAD_19615063_ChIP-ChIP_OVARY_Human0.99178516
83TP53_20018659_ChIP-ChIP_R1E_Mouse0.98836270
84TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.97954788
85E2F1_17053090_ChIP-ChIP_MCF-7_Human0.96306052
86CBX2_27304074_Chip-Seq_ESCs_Mouse0.95739035
87CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.93820679
88PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.93815216
89SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.93147481
90* TET1_21490601_ChIP-Seq_MESCs_Mouse0.93008176
91TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92244954
92* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.91440747
93ELK4_26923725_Chip-Seq_MESODERM_Mouse0.90988292
94GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90778698
95* SMC4_20622854_ChIP-Seq_HELA_Human0.90544214
96YAP1_20516196_ChIP-Seq_MESCs_Mouse0.90481819
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90414197
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90414197
99KLF4_19829295_ChIP-Seq_ESCs_Human0.90123011
100CTNNB1_20460455_ChIP-Seq_HCT116_Human0.89394631
101ZNF217_24962896_ChIP-Seq_MCF-7_Human0.89286329
102SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.88955791
103SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88397255
104RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.88216005
105TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87820939
106SMAD4_21741376_ChIP-Seq_HESCs_Human0.87815422
107* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.87152817
108PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.85709454
109* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84879158
110AR_25329375_ChIP-Seq_VCAP_Human0.84370237
111SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.82766413
112STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.82418010
113TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.82348297
114VDR_22108803_ChIP-Seq_LS180_Human0.82071602
115DPY_21335234_ChIP-Seq_ESCs_Mouse0.81692940
116PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.80845417
117MYC_19915707_ChIP-ChIP_AK7_Human0.80440782
118CREB1_26743006_Chip-Seq_LNCaP_Human0.79637022
119* TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.79411788
120GATA1_26923725_Chip-Seq_HPCs_Mouse0.78812895
121NR3C1_23031785_ChIP-Seq_PC12_Mouse0.78708789
122EGR1_19032775_ChIP-ChIP_M12_Human0.77819412
123SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.77661126
124DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.77398298
125KDM2B_26808549_Chip-Seq_DND41_Human0.76787211
126BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75731120
127* SMAD4_21741376_ChIP-Seq_ESCs_Human0.74678760
128P68_20966046_ChIP-Seq_HELA_Human0.72526777
129* RUNX1_26923725_Chip-Seq_HPCs_Mouse0.70946947
130TP53_23651856_ChIP-Seq_MEFs_Mouse0.70736942
131SMAD3_21741376_ChIP-Seq_ESCs_Human0.69646693
132EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.67697136
133UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.67538216

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.28439964
2MP0003880_abnormal_central_pattern4.42836528
3MP0002254_reproductive_system_inflammat3.85332146
4MP0003635_abnormal_synaptic_transmissio3.82687517
5MP0004270_analgesia3.52467017
6MP0002063_abnormal_learning/memory/cond3.13662899
7MP0004858_abnormal_nervous_system3.11149916
8MP0009745_abnormal_behavioral_response3.07305536
9MP0009046_muscle_twitch3.06921177
10MP0002064_seizures3.01465341
11MP0002572_abnormal_emotion/affect_behav2.74941518
12MP0001501_abnormal_sleep_pattern2.63554242
13MP0003122_maternal_imprinting2.54833695
14MP0002734_abnormal_mechanical_nocicepti2.52151499
15MP0001486_abnormal_startle_reflex2.44174231
16MP0001968_abnormal_touch/_nociception2.41293727
17MP0002272_abnormal_nervous_system2.39872836
18MP0005423_abnormal_somatic_nervous2.29005606
19MP0005394_taste/olfaction_phenotype2.11637273
20MP0005499_abnormal_olfactory_system2.11637273
21MP0002733_abnormal_thermal_nociception2.04504639
22MP0003787_abnormal_imprinting1.97380118
23MP0001440_abnormal_grooming_behavior1.89946282
24MP0001348_abnormal_lacrimal_gland1.84054155
25MP0001970_abnormal_pain_threshold1.82450021
26MP0006292_abnormal_olfactory_placode1.79603741
27MP0003690_abnormal_glial_cell1.77319079
28MP0002736_abnormal_nociception_after1.73551441
29MP0000920_abnormal_myelination1.70493260
30MP0002735_abnormal_chemical_nociception1.68046123
31MP0002184_abnormal_innervation1.62727733
32MP0002909_abnormal_adrenal_gland1.62613918
33MP0003879_abnormal_hair_cell1.62404363
34MP0002067_abnormal_sensory_capabilities1.61520386
35MP0000778_abnormal_nervous_system1.58307115
36MP0003329_amyloid_beta_deposits1.57283944
37MP0008961_abnormal_basal_metabolism1.55240077
38MP0002557_abnormal_social/conspecific_i1.47322071
39MP0000955_abnormal_spinal_cord1.47163565
40MP0002822_catalepsy1.46606078
41MP0008569_lethality_at_weaning1.46374851
42MP0004811_abnormal_neuron_physiology1.44918477
43MP0006276_abnormal_autonomic_nervous1.44162331
44MP0001177_atelectasis1.36319467
45MP0005645_abnormal_hypothalamus_physiol1.35337623
46MP0004924_abnormal_behavior1.34545456
47MP0005386_behavior/neurological_phenoty1.34545456
48MP0002876_abnormal_thyroid_physiology1.33742475
49MP0003121_genomic_imprinting1.33621643
50MP0004142_abnormal_muscle_tone1.33027520
51MP0004264_abnormal_extraembryonic_tissu1.32214737
52MP0008872_abnormal_physiological_respon1.29540000
53MP0002882_abnormal_neuron_morphology1.27437619
54MP0002332_abnormal_exercise_endurance1.26364395
55MP0002066_abnormal_motor_capabilities/c1.25957342
56MP0004147_increased_porphyrin_level1.25385755
57MP0002653_abnormal_ependyma_morphology1.24818082
58MP0004885_abnormal_endolymph1.21760967
59MP0009780_abnormal_chondrocyte_physiolo1.17884290
60MP0003183_abnormal_peptide_metabolism1.16471152
61MP0004742_abnormal_vestibular_system1.15162460
62MP0005646_abnormal_pituitary_gland1.11962171
63MP0003890_abnormal_embryonic-extraembry1.09130738
64MP0005310_abnormal_salivary_gland1.05747736
65MP0003123_paternal_imprinting1.05697830
66MP0001905_abnormal_dopamine_level1.02158811
67MP0003283_abnormal_digestive_organ1.02040193
68MP0001984_abnormal_olfaction1.00906076
69MP0006035_abnormal_mitochondrial_morpho0.99181860
70MP0003633_abnormal_nervous_system0.98979910
71MP0004510_myositis0.93889728
72MP0002152_abnormal_brain_morphology0.93670738
73MP0001529_abnormal_vocalization0.91964231
74MP0003938_abnormal_ear_development0.91670733
75MP0003137_abnormal_impulse_conducting0.91655947
76MP0008874_decreased_physiological_sensi0.88448609
77MP0002229_neurodegeneration0.87857327
78MP0002069_abnormal_eating/drinking_beha0.85528486
79MP0005167_abnormal_blood-brain_barrier0.84864844
80MP0001485_abnormal_pinna_reflex0.84542504
81MP0004085_abnormal_heartbeat0.82396338
82MP0005623_abnormal_meninges_morphology0.82345373
83MP0003011_delayed_dark_adaptation0.82125820
84MP0003631_nervous_system_phenotype0.80856689
85MP0002752_abnormal_somatic_nervous0.80110231
86MP0004130_abnormal_muscle_cell0.79368303
87MP0001963_abnormal_hearing_physiology0.79114133
88MP0003075_altered_response_to0.78524532
89MP0004043_abnormal_pH_regulation0.76594806
90MP0000678_abnormal_parathyroid_gland0.74465451
91MP0008877_abnormal_DNA_methylation0.74316453
92MP0005535_abnormal_body_temperature0.72154598
93MP0001986_abnormal_taste_sensitivity0.71088220
94MP0001502_abnormal_circadian_rhythm0.70889979
95MP0010386_abnormal_urinary_bladder0.70722302
96MP0002638_abnormal_pupillary_reflex0.70101616
97MP0003632_abnormal_nervous_system0.69037169
98MP0003172_abnormal_lysosome_physiology0.67558100
99MP0000631_abnormal_neuroendocrine_gland0.65178865
100MP0003861_abnormal_nervous_system0.61980736
101MP0001346_abnormal_lacrimal_gland0.61395869
102MP0003634_abnormal_glial_cell0.60885742
103MP0005075_abnormal_melanosome_morpholog0.59004295
104MP0003045_fibrosis0.58751651
105MP0005551_abnormal_eye_electrophysiolog0.58562776
106MP0001765_abnormal_ion_homeostasis0.58319327
107MP0005166_decreased_susceptibility_to0.57681866
108MP0000604_amyloidosis0.55221125
109MP0004215_abnormal_myocardial_fiber0.55139402
110MP0000579_abnormal_nail_morphology0.55009147
111MP0010769_abnormal_survival0.54357181
112MP0004484_altered_response_of0.54138626
113MP0008770_decreased_survivor_rate0.53516808
114MP0001943_abnormal_respiration0.53506843
115MP0008789_abnormal_olfactory_epithelium0.53310737
116MP0001188_hyperpigmentation0.53053067
117MP0004145_abnormal_muscle_electrophysio0.52886345
118MP0010768_mortality/aging0.50787009
119MP0002277_abnormal_respiratory_mucosa0.50217423
120MP0010770_preweaning_lethality0.49479065
121MP0002082_postnatal_lethality0.49479065
122MP0003956_abnormal_body_size0.48767211
123MP0005409_darkened_coat_color0.45900583
124MP0002873_normal_phenotype0.45524617
125MP0002090_abnormal_vision0.44381802
126MP0002169_no_abnormal_phenotype0.43936566
127MP0002083_premature_death0.39922020

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.65034914
2Myokymia (HP:0002411)5.51517451
3Focal seizures (HP:0007359)5.50513781
4Abnormality of the lower motor neuron (HP:0002366)5.15343080
5Epileptic encephalopathy (HP:0200134)4.90727949
6Febrile seizures (HP:0002373)4.77423671
7Atonic seizures (HP:0010819)4.74665025
8Visual hallucinations (HP:0002367)4.74096667
9Bilateral microphthalmos (HP:0007633)4.60299862
10Hyperventilation (HP:0002883)4.15799964
11Dialeptic seizures (HP:0011146)4.11517051
12Absence seizures (HP:0002121)4.08257891
13Generalized tonic-clonic seizures (HP:0002069)3.93017660
14Torticollis (HP:0000473)3.65391149
15Amblyopia (HP:0000646)3.57058131
16Obstructive sleep apnea (HP:0002870)3.56896651
17Cerebral hypomyelination (HP:0006808)3.55013797
18Hepatoblastoma (HP:0002884)3.50519767
19Limb dystonia (HP:0002451)3.28871419
20Amyotrophic lateral sclerosis (HP:0007354)3.27703199
21Focal dystonia (HP:0004373)3.17557126
22Progressive cerebellar ataxia (HP:0002073)3.15543902
23Hemiparesis (HP:0001269)3.14132061
24Hypochromic microcytic anemia (HP:0004840)3.12916523
25Decreased number of large peripheral myelinated nerve fibers (HP:0003387)3.08591122
26Delusions (HP:0000746)3.03435577
27Supranuclear gaze palsy (HP:0000605)2.98826723
28Craniofacial dystonia (HP:0012179)2.94132490
29Horizontal nystagmus (HP:0000666)2.93609003
30Akinesia (HP:0002304)2.93496058
31Abnormality of the corticospinal tract (HP:0002492)2.84156809
32Clonus (HP:0002169)2.81309205
33Status epilepticus (HP:0002133)2.81029888
34Excessive salivation (HP:0003781)2.70592934
35Drooling (HP:0002307)2.70592934
36Depression (HP:0000716)2.68132131
37Generalized hypotonia (HP:0001290)2.65937352
38Dysdiadochokinesis (HP:0002075)2.62644846
39Action tremor (HP:0002345)2.57759030
40Poor eye contact (HP:0000817)2.57285242
41Generalized myoclonic seizures (HP:0002123)2.55146042
42Ankle clonus (HP:0011448)2.51114765
43Tetraplegia (HP:0002445)2.47821874
44Rigidity (HP:0002063)2.46489216
45Resting tremor (HP:0002322)2.45607342
46Insomnia (HP:0100785)2.45475384
47Impaired social interactions (HP:0000735)2.43622811
48Abnormal social behavior (HP:0012433)2.43622811
49Broad-based gait (HP:0002136)2.43410403
50Sleep apnea (HP:0010535)2.43383277
51Dysmetria (HP:0001310)2.42875913
52Impaired vibration sensation in the lower limbs (HP:0002166)2.40619962
53Diminished motivation (HP:0000745)2.40578157
54Urinary bladder sphincter dysfunction (HP:0002839)2.39148967
55Postural instability (HP:0002172)2.38919378
56Scanning speech (HP:0002168)2.35559219
57Inability to walk (HP:0002540)2.35225950
58Absent speech (HP:0001344)2.32765640
59Peripheral hypomyelination (HP:0007182)2.32743036
60Rib fusion (HP:0000902)2.32215432
61Papilledema (HP:0001085)2.29584660
62Neoplasm of the heart (HP:0100544)2.28724470
63Stereotypic behavior (HP:0000733)2.28322563
64Choreoathetosis (HP:0001266)2.27516188
65Mutism (HP:0002300)2.26439620
66Testicular atrophy (HP:0000029)2.25401078
67Lower limb asymmetry (HP:0100559)2.25214121
68Hypsarrhythmia (HP:0002521)2.23243453
69Sensory axonal neuropathy (HP:0003390)2.22484686
70Abnormality of the astrocytes (HP:0100707)2.21546798
71Astrocytoma (HP:0009592)2.21546798
72Spastic tetraparesis (HP:0001285)2.21286246
73Bradykinesia (HP:0002067)2.21216265
74Ependymoma (HP:0002888)2.19632613
75Cerebral inclusion bodies (HP:0100314)2.18603639
76Gaze-evoked nystagmus (HP:0000640)2.18541794
77Achilles tendon contracture (HP:0001771)2.13728991
78Ankyloglossia (HP:0010296)2.12742855
79Spastic gait (HP:0002064)2.10761909
80Abnormal eating behavior (HP:0100738)2.10742164
81Morphological abnormality of the pyramidal tract (HP:0002062)2.09212466
82CNS hypomyelination (HP:0003429)2.08704621
83Bundle branch block (HP:0011710)2.06422329
84Genetic anticipation (HP:0003743)2.06296279
85Neurofibrillary tangles (HP:0002185)2.06294035
86Incomplete penetrance (HP:0003829)2.06104060
87Abnormality of ocular smooth pursuit (HP:0000617)2.04226562
88Spinal canal stenosis (HP:0003416)2.02328374
89Abnormality of saccadic eye movements (HP:0000570)2.01350885
90Neuronal loss in central nervous system (HP:0002529)1.99834904
91Impaired vibratory sensation (HP:0002495)1.99294696
92Degeneration of the lateral corticospinal tracts (HP:0002314)1.99071450
93Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.99071450
94Failure to thrive in infancy (HP:0001531)1.98639692
95Memory impairment (HP:0002354)1.97884240
96Abnormality of binocular vision (HP:0011514)1.97707104
97Diplopia (HP:0000651)1.97707104
98Anxiety (HP:0000739)1.96054262
99Truncal ataxia (HP:0002078)1.95873537
100Increased circulating renin level (HP:0000848)1.94729646
101Impaired smooth pursuit (HP:0007772)1.94653768
102Intention tremor (HP:0002080)1.93853684
103Lower limb muscle weakness (HP:0007340)1.93206673
104Polyphagia (HP:0002591)1.91615366
105Bifid tongue (HP:0010297)1.88333508
106Rapidly progressive (HP:0003678)1.86974444
107Abnormality of the Achilles tendon (HP:0005109)1.86105800
108Intellectual disability, profound (HP:0002187)1.85497572
109Neoplasm of striated muscle (HP:0009728)1.85069046
110Dysmetric saccades (HP:0000641)1.84104842
111Dementia (HP:0000726)1.83110444
112Lower limb amyotrophy (HP:0007210)1.81741823
113Apathy (HP:0000741)1.80816123
114Open mouth (HP:0000194)1.80035380
115Annular pancreas (HP:0001734)1.79500106
116Progressive inability to walk (HP:0002505)1.79437767
117Heart block (HP:0012722)1.78235624
118Hemiplegia (HP:0002301)1.75739493
119Ragged-red muscle fibers (HP:0003200)1.75559170
120Epileptiform EEG discharges (HP:0011182)1.75487077
121Split foot (HP:0001839)1.75181214
122Difficulty running (HP:0009046)1.74520054
123Abnormality of calcium-phosphate metabolism (HP:0100530)1.73119573
124Bronchomalacia (HP:0002780)1.73080961
125Urinary urgency (HP:0000012)1.72694865
126Abnormality of salivation (HP:0100755)1.71513551
127Slow saccadic eye movements (HP:0000514)1.71394233
128Abnormality of the periventricular white matter (HP:0002518)1.71076815
129Ventricular fibrillation (HP:0001663)1.69870043
130Nephroblastoma (Wilms tumor) (HP:0002667)1.69795138
131Hypoplasia of the fovea (HP:0007750)1.69770724
132Aplasia/Hypoplasia of the fovea (HP:0008060)1.69770724
133Abnormality of chromosome segregation (HP:0002916)1.69267577
134Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.68699604
135Hand muscle atrophy (HP:0009130)1.68692049
136Abnormal EKG (HP:0003115)1.68110466
137Anomalous pulmonary venous return (HP:0010772)1.68108595
138Megalencephaly (HP:0001355)1.67892652
139EEG with generalized epileptiform discharges (HP:0011198)1.66748142
140Severe global developmental delay (HP:0011344)1.65996012
141Hypercortisolism (HP:0001578)1.63741502

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK54.44020650
2NTRK33.90323319
3MAP3K93.87738517
4EPHA43.42956730
5CDK123.09863993
6MAP3K42.67541785
7MAP2K42.42586143
8NTRK12.40521777
9GRK62.34412553
10TYRO32.33882813
11DAPK22.11951817
12PAK62.11506416
13MARK12.10343858
14MINK12.02462676
15MAP2K71.98311420
16RIPK11.98283098
17NTRK21.90656785
18ADRBK21.85248521
19RIPK41.85060240
20KSR21.72658552
21MAP3K121.70181738
22PRKD31.67338114
23LATS21.54469760
24GRK71.41097909
25STK381.39585207
26SGK2231.32889837
27SGK4941.32889837
28CDK191.32873378
29GRK11.31359020
30DAPK11.29420973
31MOS1.28893939
32CAMKK21.28515380
33CDK51.25923886
34SIK21.18659467
35PRPF4B1.15132518
36CAMKK11.14237663
37PRKCG1.13743445
38PLK21.13653465
39WNK11.12102259
40NEK61.11587356
41MAPK71.11165745
42ALK1.10919282
43MARK21.10000408
44NME11.09572538
45KSR11.06536242
46MATK1.04828347
47SGK21.03313984
48TAOK10.99984895
49CAMK40.99078281
50MAP3K70.98165465
51CASK0.97990838
52MAP3K130.94123848
53ARAF0.92350750
54SGK30.90859111
55ERN10.90148468
56TNIK0.88871263
57MAPK130.85875743
58CDK150.83179805
59AKT30.82370218
60CDK180.82252597
61CAMK2G0.81799914
62CAMK10.81491977
63DYRK1A0.80642283
64BRSK10.76824953
65PAK30.76383612
66MAP3K110.74989840
67CAMK2A0.74863317
68STK110.74349998
69LIMK10.73874453
70UHMK10.73863212
71ADRBK10.71950654
72CDK140.71855484
73CDK11A0.71812794
74FES0.71220294
75CSF1R0.69942806
76DAPK30.67182427
77PNCK0.66936590
78BMPR20.66730417
79PKN10.64962589
80PRKCH0.63558491
81MAP3K20.58625476
82BRAF0.58331745
83OXSR10.58116504
84TNK20.57563808
85PDK10.57265645
86MAP3K60.55556007
87RAF10.53418527
88PRKG20.53314254
89MAPK100.52282458
90MAPK120.52104553
91CDC42BPA0.51955428
92TESK10.48773942
93RPS6KA30.47375691
94RET0.47218735
95CAMK2D0.46540970
96MAP2K60.44420476
97PTK2B0.44113587
98ROCK20.42855976
99TTK0.42614578
100PHKG10.42416302
101PHKG20.42416302
102SGK10.42217874
103HIPK20.41743447
104DDR20.40142222
105CAMK2B0.38928591
106PRKCA0.36023025
107FGR0.35240838
108FER0.34140852
109MAP3K10.33696859
110CSNK1G20.32534462
111CSNK1E0.31668842
112PDPK10.31452374
113FGFR20.30682355
114LMTK20.30000235
115PINK10.29938432
116FYN0.28977939
117JAK20.27773606
118CCNB10.27552736
119ERBB20.27155337
120PRKCB0.27047030
121PRKG10.26713577
122PTK20.26533631
123PRKCZ0.26312171
124MAPK80.26211321
125ROCK10.26054488
126PRKACA0.25820941
127SRC0.25359704
128IRAK20.24533992
129JAK10.24007320

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.85364281
2Synaptic vesicle cycle_Homo sapiens_hsa047213.22154956
3GABAergic synapse_Homo sapiens_hsa047272.80364168
4Glutamatergic synapse_Homo sapiens_hsa047242.67144176
5Long-term potentiation_Homo sapiens_hsa047202.65940344
6Olfactory transduction_Homo sapiens_hsa047402.55218289
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.49178822
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.41584828
9Circadian entrainment_Homo sapiens_hsa047132.40901271
10Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.39470304
11Morphine addiction_Homo sapiens_hsa050322.28499582
12Amphetamine addiction_Homo sapiens_hsa050312.28104174
13Salivary secretion_Homo sapiens_hsa049702.14513000
14Taste transduction_Homo sapiens_hsa047421.96857356
15Dopaminergic synapse_Homo sapiens_hsa047281.88911696
16Serotonergic synapse_Homo sapiens_hsa047261.84310070
17Long-term depression_Homo sapiens_hsa047301.73180830
18Insulin secretion_Homo sapiens_hsa049111.71816762
19Gastric acid secretion_Homo sapiens_hsa049711.69976765
20Calcium signaling pathway_Homo sapiens_hsa040201.69312073
21GnRH signaling pathway_Homo sapiens_hsa049121.61267798
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59518177
23Oxytocin signaling pathway_Homo sapiens_hsa049211.58735371
24Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.57315125
25Cholinergic synapse_Homo sapiens_hsa047251.54091357
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.52073486
27Vitamin B6 metabolism_Homo sapiens_hsa007501.51195343
28Renin secretion_Homo sapiens_hsa049241.50900615
29Collecting duct acid secretion_Homo sapiens_hsa049661.49995105
30Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.31912877
31cAMP signaling pathway_Homo sapiens_hsa040241.29734533
32Cocaine addiction_Homo sapiens_hsa050301.29448610
33Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.29408135
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26842013
35Gap junction_Homo sapiens_hsa045401.18226345
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.12551816
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.10214979
38Phospholipase D signaling pathway_Homo sapiens_hsa040721.08557360
39Glioma_Homo sapiens_hsa052140.99844792
40Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.99053973
41Estrogen signaling pathway_Homo sapiens_hsa049150.98515178
42ErbB signaling pathway_Homo sapiens_hsa040120.97875635
43Axon guidance_Homo sapiens_hsa043600.96544046
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.94641318
45Choline metabolism in cancer_Homo sapiens_hsa052310.93959817
46Melanogenesis_Homo sapiens_hsa049160.92628327
47Type II diabetes mellitus_Homo sapiens_hsa049300.91487872
48Cardiac muscle contraction_Homo sapiens_hsa042600.90348258
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89154135
50mTOR signaling pathway_Homo sapiens_hsa041500.86495594
51Dorso-ventral axis formation_Homo sapiens_hsa043200.86132109
52cGMP-PKG signaling pathway_Homo sapiens_hsa040220.85871212
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.85868081
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.83174801
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.82520351
56Ovarian steroidogenesis_Homo sapiens_hsa049130.79346665
57Vibrio cholerae infection_Homo sapiens_hsa051100.78111780
58Fructose and mannose metabolism_Homo sapiens_hsa000510.77808500
59VEGF signaling pathway_Homo sapiens_hsa043700.76244293
60Inositol phosphate metabolism_Homo sapiens_hsa005620.75903674
61Oocyte meiosis_Homo sapiens_hsa041140.74652568
62MAPK signaling pathway_Homo sapiens_hsa040100.74554098
63Ras signaling pathway_Homo sapiens_hsa040140.69260363
64African trypanosomiasis_Homo sapiens_hsa051430.68694083
65Dilated cardiomyopathy_Homo sapiens_hsa054140.65620510
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65462416
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65272913
68Rap1 signaling pathway_Homo sapiens_hsa040150.64712301
69Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60880504
70Histidine metabolism_Homo sapiens_hsa003400.58595835
71Arginine and proline metabolism_Homo sapiens_hsa003300.56283414
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.56025300
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.55850096
74Pancreatic secretion_Homo sapiens_hsa049720.55709311
75Nitrogen metabolism_Homo sapiens_hsa009100.55547196
76Thyroid hormone synthesis_Homo sapiens_hsa049180.54032892
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53691483
78SNARE interactions in vesicular transport_Homo sapiens_hsa041300.52823929
79Mineral absorption_Homo sapiens_hsa049780.50535218
80Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.50390988
81Arginine biosynthesis_Homo sapiens_hsa002200.50149855
82Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.49564830
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48478284
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.48117171
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.48068438
86Wnt signaling pathway_Homo sapiens_hsa043100.47349268
87Type I diabetes mellitus_Homo sapiens_hsa049400.47177716
88Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.47123553
89Non-small cell lung cancer_Homo sapiens_hsa052230.46541497
90Bile secretion_Homo sapiens_hsa049760.43593506
91Regulation of actin cytoskeleton_Homo sapiens_hsa048100.40628133
92Glucagon signaling pathway_Homo sapiens_hsa049220.39950740
93Phototransduction_Homo sapiens_hsa047440.39945276
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.39381380
95Fatty acid biosynthesis_Homo sapiens_hsa000610.36205314
96Endocytosis_Homo sapiens_hsa041440.36152467
97Galactose metabolism_Homo sapiens_hsa000520.34875622
98Alcoholism_Homo sapiens_hsa050340.33305183
99Circadian rhythm_Homo sapiens_hsa047100.32568145
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31963125
101beta-Alanine metabolism_Homo sapiens_hsa004100.30970235
102Prion diseases_Homo sapiens_hsa050200.30670511
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.28445349
104Ether lipid metabolism_Homo sapiens_hsa005650.26666850
105Endometrial cancer_Homo sapiens_hsa052130.26179683
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.24935812
107Renal cell carcinoma_Homo sapiens_hsa052110.24708469
108Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.23952998
109HIF-1 signaling pathway_Homo sapiens_hsa040660.23005879
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.22789062
111Hedgehog signaling pathway_Homo sapiens_hsa043400.21330524
112Alzheimers disease_Homo sapiens_hsa050100.20928410
113Insulin signaling pathway_Homo sapiens_hsa049100.20761075
114Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.18826784
115Tight junction_Homo sapiens_hsa045300.17065215
116AMPK signaling pathway_Homo sapiens_hsa041520.15674116
117Protein digestion and absorption_Homo sapiens_hsa049740.14299198

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