SLC6A17

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





Description: The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. Defects in this gene are a cause of autosomal recessive mental retardation-48. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.80820966
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.77468148
3locomotory exploration behavior (GO:0035641)6.41218131
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.99426902
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.89235971
6glutamate secretion (GO:0014047)5.70035826
7vocalization behavior (GO:0071625)5.65598308
8synaptic vesicle exocytosis (GO:0016079)5.57207388
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.53469182
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.35746015
11regulation of synaptic vesicle exocytosis (GO:2000300)5.34700184
12regulation of glutamate receptor signaling pathway (GO:1900449)5.05638456
13cerebellar granule cell differentiation (GO:0021707)4.91463633
14regulation of synaptic vesicle transport (GO:1902803)4.77069942
15protein localization to synapse (GO:0035418)4.76642631
16exploration behavior (GO:0035640)4.76481696
17ionotropic glutamate receptor signaling pathway (GO:0035235)4.76261612
18neurotransmitter secretion (GO:0007269)4.74038906
19regulation of neuronal synaptic plasticity (GO:0048168)4.72864198
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.70248125
21neuronal action potential propagation (GO:0019227)4.62572194
22layer formation in cerebral cortex (GO:0021819)4.55998412
23regulation of synapse structural plasticity (GO:0051823)4.40232299
24gamma-aminobutyric acid transport (GO:0015812)4.39977022
25synaptic transmission, glutamatergic (GO:0035249)4.33020971
26potassium ion homeostasis (GO:0055075)4.29891144
27amino acid import (GO:0043090)4.27707942
28dendritic spine morphogenesis (GO:0060997)4.27648556
29cellular potassium ion homeostasis (GO:0030007)4.20203430
30neuron cell-cell adhesion (GO:0007158)4.18399100
31neurotransmitter-gated ion channel clustering (GO:0072578)4.18116305
32glutamate receptor signaling pathway (GO:0007215)4.12875409
33long-term memory (GO:0007616)4.12076988
34regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.09827392
35sodium ion export (GO:0071436)4.07202819
36positive regulation of membrane potential (GO:0045838)4.00212392
37negative regulation of dendrite morphogenesis (GO:0050774)3.99481689
38neuron-neuron synaptic transmission (GO:0007270)3.94731905
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.88570380
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.87080255
41regulation of synapse maturation (GO:0090128)3.86663214
42activation of protein kinase A activity (GO:0034199)3.86385682
43regulation of voltage-gated calcium channel activity (GO:1901385)3.86161927
44neuromuscular process controlling balance (GO:0050885)3.71507297
45regulation of synaptic plasticity (GO:0048167)3.69011556
46cellular sodium ion homeostasis (GO:0006883)3.68365264
47* neurotransmitter transport (GO:0006836)3.67731002
48regulation of postsynaptic membrane potential (GO:0060078)3.66866418
49positive regulation of synapse maturation (GO:0090129)3.65301594
50cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.64237782
51regulation of neurotransmitter secretion (GO:0046928)3.58617625
52regulation of dendritic spine morphogenesis (GO:0061001)3.57943231
53positive regulation of dendritic spine morphogenesis (GO:0061003)3.57589046
54cerebellar Purkinje cell differentiation (GO:0021702)3.57285148
55synaptic vesicle endocytosis (GO:0048488)3.50831148
56axon ensheathment in central nervous system (GO:0032291)3.50724825
57central nervous system myelination (GO:0022010)3.50724825
58regulation of neurotransmitter levels (GO:0001505)3.48477777
59neuromuscular process controlling posture (GO:0050884)3.47589033
60cell communication by electrical coupling (GO:0010644)3.45728753
61positive regulation of synaptic transmission, GABAergic (GO:0032230)3.42973357
62transmission of nerve impulse (GO:0019226)3.41935186
63positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.41763039
64regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.38413687
65dendrite morphogenesis (GO:0048813)3.37193719
66auditory behavior (GO:0031223)3.36744835
67regulation of ARF protein signal transduction (GO:0032012)3.35458459
68neuron recognition (GO:0008038)3.33494846
69long-term synaptic potentiation (GO:0060291)3.31353025
70cytoskeletal anchoring at plasma membrane (GO:0007016)3.30717143
71detection of calcium ion (GO:0005513)3.30697678
72regulation of synaptic transmission, glutamatergic (GO:0051966)3.30342643
73positive regulation of neurotransmitter secretion (GO:0001956)3.29228327
74response to auditory stimulus (GO:0010996)3.28780938
75regulation of vesicle fusion (GO:0031338)3.28762754
76regulation of neurotransmitter transport (GO:0051588)3.27991918
77vesicle docking involved in exocytosis (GO:0006904)3.26682501
78gamma-aminobutyric acid signaling pathway (GO:0007214)3.24798834
79positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.22899960
80neuromuscular synaptic transmission (GO:0007274)3.22889048
81postsynaptic membrane organization (GO:0001941)3.22428299
82membrane depolarization during action potential (GO:0086010)3.20575013
83positive regulation of neurotransmitter transport (GO:0051590)3.20130983
84negative regulation of synaptic transmission, GABAergic (GO:0032229)3.19110837
85acidic amino acid transport (GO:0015800)3.18546879
86dendritic spine organization (GO:0097061)3.17375066
87vesicle transport along microtubule (GO:0047496)3.17308501
88membrane depolarization (GO:0051899)3.16513979
89serotonin metabolic process (GO:0042428)3.15559296
90regulation of exocytosis (GO:0017157)3.15138171
91G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.15077256
92establishment of synaptic vesicle localization (GO:0097480)3.14225139
93synaptic vesicle transport (GO:0048489)3.14225139
94neuronal ion channel clustering (GO:0045161)3.13944563
95signal release (GO:0023061)3.12253856
96axonal fasciculation (GO:0007413)3.12249499
97cell differentiation in hindbrain (GO:0021533)3.11334169
98L-amino acid import (GO:0043092)3.11243255
99prepulse inhibition (GO:0060134)3.10635760
100positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.10054862
101regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.09234473
102cell communication involved in cardiac conduction (GO:0086065)3.09085634
103neurotransmitter uptake (GO:0001504)3.08973310
104chemosensory behavior (GO:0007635)3.07812958
105neuromuscular process (GO:0050905)3.06381064
106membrane hyperpolarization (GO:0060081)3.06099033
107G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.06017427
108innervation (GO:0060384)3.05579133
109positive regulation of dendritic spine development (GO:0060999)3.04663498
110learning (GO:0007612)3.04118990
111regulation of synaptic transmission (GO:0050804)3.04011764
112social behavior (GO:0035176)3.04009033
113intraspecies interaction between organisms (GO:0051703)3.04009033
114vesicle docking (GO:0048278)3.02605587
115positive regulation of synaptic transmission (GO:0050806)3.02228393
116regulation of dendritic spine development (GO:0060998)3.01179354
117regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.99940875
118potassium ion import (GO:0010107)2.99769974
119synaptic transmission (GO:0007268)2.97324478
120regulation of calcium ion-dependent exocytosis (GO:0017158)2.96082120
121synapse assembly (GO:0007416)2.93730588
122behavioral defense response (GO:0002209)2.91919993
123behavioral fear response (GO:0001662)2.91919993
124cerebellar Purkinje cell layer development (GO:0021680)2.91352949

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.11289139
2GBX2_23144817_ChIP-Seq_PC3_Human3.17860095
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08965293
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06413765
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.03971071
6REST_21632747_ChIP-Seq_MESCs_Mouse2.84205116
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.81105228
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76359504
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76359504
10* DROSHA_22980978_ChIP-Seq_HELA_Human2.73123649
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62123114
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.57375347
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56626964
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53123270
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.49113993
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44414671
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.41176886
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.33015018
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.29237701
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.28977490
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.24556092
22EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.21430038
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.21145879
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.21095954
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.19379899
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.11193081
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99322013
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91596980
29AR_21572438_ChIP-Seq_LNCaP_Human1.78753549
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.76132107
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.69984308
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59490265
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.51337199
34* SMAD4_21799915_ChIP-Seq_A2780_Human1.51120716
35RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.41959114
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.39909296
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.33384218
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32872990
39KDM2B_26808549_Chip-Seq_K562_Human1.31247896
40SOX2_21211035_ChIP-Seq_LN229_Gbm1.30521115
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.30321620
42ZNF274_21170338_ChIP-Seq_K562_Hela1.29069275
43AR_19668381_ChIP-Seq_PC3_Human1.26335795
44NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25203108
45WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24477486
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23751918
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.22567413
48ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21436372
49* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.20963674
50* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.19473806
51WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.19465836
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16675478
53* STAT3_23295773_ChIP-Seq_U87_Human1.15704387
54AR_25329375_ChIP-Seq_VCAP_Human1.15232809
55TAF15_26573619_Chip-Seq_HEK293_Human1.14553143
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.12959311
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12070824
58GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11830215
59* RING1B_27294783_Chip-Seq_NPCs_Mouse1.09397059
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09374740
61P300_19829295_ChIP-Seq_ESCs_Human1.07609115
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05744917
63CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.05706306
64* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03907936
65YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03633338
66RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.03053879
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02690993
68SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02646760
69* RNF2_27304074_Chip-Seq_NSC_Mouse1.02202480
70TCF4_23295773_ChIP-Seq_U87_Human1.01883926
71SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.00522032
72ZFP57_27257070_Chip-Seq_ESCs_Mouse0.99797159
73ARNT_22903824_ChIP-Seq_MCF-7_Human0.99223294
74TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.99142853
75OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98401181
76CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98401003
77TOP2B_26459242_ChIP-Seq_MCF-7_Human0.98157102
78OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.97735902
79AHR_22903824_ChIP-Seq_MCF-7_Human0.96008340
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95622007
81ZFP281_27345836_Chip-Seq_ESCs_Mouse0.95371205
82SMAD3_21741376_ChIP-Seq_ESCs_Human0.95256571
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94832933
84SMAD4_21741376_ChIP-Seq_HESCs_Human0.94399269
85PIAS1_25552417_ChIP-Seq_VCAP_Human0.94020692
86SMAD3_21741376_ChIP-Seq_HESCs_Human0.93719202
87CBX2_27304074_Chip-Seq_ESCs_Mouse0.92803566
88ESR2_21235772_ChIP-Seq_MCF-7_Human0.92701560
89SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92274429
90GATA1_26923725_Chip-Seq_HPCs_Mouse0.92024026
91* TET1_21490601_ChIP-Seq_MESCs_Mouse0.91812769
92RXR_22108803_ChIP-Seq_LS180_Human0.91688416
93DPY_21335234_ChIP-Seq_ESCs_Mouse0.89738039
94NR3C1_21868756_ChIP-Seq_MCF10A_Human0.88977202
95TP53_16413492_ChIP-PET_HCT116_Human0.88961872
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88245175
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.88010593
98CTCF_27219007_Chip-Seq_Bcells_Human0.86814025
99OCT4_19829295_ChIP-Seq_ESCs_Human0.86539787
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.86057001
101LXR_22292898_ChIP-Seq_THP-1_Human0.84691309
102KDM2B_26808549_Chip-Seq_SUP-B15_Human0.83474083
103GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83316151
104THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.83311848
105PRDM14_20953172_ChIP-Seq_ESCs_Human0.82983780
106* RUNX2_22187159_ChIP-Seq_PCA_Human0.82581485
107SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82424387
108IGF1R_20145208_ChIP-Seq_DFB_Human0.82411646
109CTNNB1_20460455_ChIP-Seq_HCT116_Human0.82083761
110DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.82024672
111TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.81341142
112PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.80420290
113KLF4_19829295_ChIP-Seq_ESCs_Human0.80037634
114PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.79365143
115BMI1_23680149_ChIP-Seq_NPCS_Mouse0.78308163
116LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77317897
117SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.76890193
118BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75319520
119MYC_19915707_ChIP-ChIP_AK7_Human0.73852668
120TP53_20018659_ChIP-ChIP_R1E_Mouse0.73772216

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.28047145
2MP0003880_abnormal_central_pattern4.39506709
3MP0003635_abnormal_synaptic_transmissio4.36248076
4MP0004270_analgesia3.91869153
5MP0009745_abnormal_behavioral_response3.49890535
6MP0002063_abnormal_learning/memory/cond3.42379264
7MP0009046_muscle_twitch3.27775289
8MP0002064_seizures3.25720207
9MP0001968_abnormal_touch/_nociception2.98016371
10MP0005423_abnormal_somatic_nervous2.97636328
11MP0002572_abnormal_emotion/affect_behav2.81015317
12MP0002734_abnormal_mechanical_nocicepti2.75332021
13MP0002822_catalepsy2.68211248
14MP0002272_abnormal_nervous_system2.60715613
15MP0001486_abnormal_startle_reflex2.58712027
16MP0001501_abnormal_sleep_pattern2.29566947
17MP0009780_abnormal_chondrocyte_physiolo2.25333789
18MP0002735_abnormal_chemical_nociception2.18995868
19MP0002736_abnormal_nociception_after2.18719341
20MP0008569_lethality_at_weaning2.12792680
21MP0001440_abnormal_grooming_behavior2.07523114
22MP0002733_abnormal_thermal_nociception2.03022970
23MP0004858_abnormal_nervous_system1.99270335
24MP0001970_abnormal_pain_threshold1.98231901
25MP0002909_abnormal_adrenal_gland1.91643684
26MP0002067_abnormal_sensory_capabilities1.90639461
27MP0004811_abnormal_neuron_physiology1.88283833
28MP0003329_amyloid_beta_deposits1.85883535
29MP0002557_abnormal_social/conspecific_i1.75568260
30MP0002184_abnormal_innervation1.74782398
31MP0003879_abnormal_hair_cell1.73002883
32MP0003123_paternal_imprinting1.71236377
33MP0004924_abnormal_behavior1.70983098
34MP0005386_behavior/neurological_phenoty1.70983098
35MP0005646_abnormal_pituitary_gland1.63854380
36MP0000778_abnormal_nervous_system1.63597504
37MP0004885_abnormal_endolymph1.62116092
38MP0000955_abnormal_spinal_cord1.59329678
39MP0003633_abnormal_nervous_system1.46736969
40MP0002066_abnormal_motor_capabilities/c1.43810976
41MP0003787_abnormal_imprinting1.41519749
42MP0002882_abnormal_neuron_morphology1.40633222
43MP0005645_abnormal_hypothalamus_physiol1.38743490
44MP0001984_abnormal_olfaction1.35099000
45MP0000569_abnormal_digit_pigmentation1.30404065
46MP0006276_abnormal_autonomic_nervous1.25821173
47MP0001502_abnormal_circadian_rhythm1.22083440
48MP0003283_abnormal_digestive_organ1.21106278
49MP0003631_nervous_system_phenotype1.20906571
50MP0001348_abnormal_lacrimal_gland1.16419943
51MP0008961_abnormal_basal_metabolism1.12176023
52MP0004142_abnormal_muscle_tone1.11616840
53MP0002152_abnormal_brain_morphology1.08277741
54MP0004147_increased_porphyrin_level1.06495937
55MP0003122_maternal_imprinting1.05191560
56MP0003075_altered_response_to1.05161017
57MP0008872_abnormal_physiological_respon1.01459534
58MP0000013_abnormal_adipose_tissue1.00788786
59MP0001177_atelectasis1.00260601
60MP0003690_abnormal_glial_cell0.99005930
61MP0000751_myopathy0.97256647
62MP0001905_abnormal_dopamine_level0.97033739
63MP0004145_abnormal_muscle_electrophysio0.96759041
64MP0002229_neurodegeneration0.96398949
65MP0002069_abnormal_eating/drinking_beha0.95338181
66MP0008874_decreased_physiological_sensi0.91327861
67MP0008877_abnormal_DNA_methylation0.89566671
68MP0003632_abnormal_nervous_system0.85669112
69MP0003634_abnormal_glial_cell0.84433980
70MP0005535_abnormal_body_temperature0.83881265
71MP0000920_abnormal_myelination0.82628355
72MP0003172_abnormal_lysosome_physiology0.82587923
73MP0000604_amyloidosis0.81366232
74MP0010386_abnormal_urinary_bladder0.80905276
75MP0004085_abnormal_heartbeat0.80815699
76MP0001529_abnormal_vocalization0.79369372
77MP0005551_abnormal_eye_electrophysiolog0.76833090
78MP0004510_myositis0.75006066
79MP0005167_abnormal_blood-brain_barrier0.74997114
80MP0002090_abnormal_vision0.74081230
81MP0004742_abnormal_vestibular_system0.73165100
82MP0001963_abnormal_hearing_physiology0.72028787
83MP0004043_abnormal_pH_regulation0.71828685
84MP0001346_abnormal_lacrimal_gland0.71082341
85MP0001188_hyperpigmentation0.69417365
86MP0005394_taste/olfaction_phenotype0.69034111
87MP0005499_abnormal_olfactory_system0.69034111
88MP0001299_abnormal_eye_distance/0.65704751
89MP0003137_abnormal_impulse_conducting0.65020971
90MP0001986_abnormal_taste_sensitivity0.64446870
91MP0005623_abnormal_meninges_morphology0.64191773
92MP0004215_abnormal_myocardial_fiber0.63622988
93MP0000631_abnormal_neuroendocrine_gland0.63121762
94MP0002752_abnormal_somatic_nervous0.63034417
95MP0004233_abnormal_muscle_weight0.62525258
96MP0003045_fibrosis0.62193501
97MP0004484_altered_response_of0.60767182
98MP0005409_darkened_coat_color0.60482926
99MP0002638_abnormal_pupillary_reflex0.59494510
100MP0001485_abnormal_pinna_reflex0.59258373
101MP0003121_genomic_imprinting0.58181641
102MP0010234_abnormal_vibrissa_follicle0.56391959
103MP0001664_abnormal_digestion0.55175605
104MP0010769_abnormal_survival0.54835212
105MP0010768_mortality/aging0.53079918
106MP0004130_abnormal_muscle_cell0.52373803
107MP0002089_abnormal_postnatal_growth/wei0.51990463
108MP0005187_abnormal_penis_morphology0.51637929
109MP0001943_abnormal_respiration0.51528035
110MP0002082_postnatal_lethality0.51215747
111MP0010770_preweaning_lethality0.51215747
112MP0005171_absent_coat_pigmentation0.50227972
113MP0003956_abnormal_body_size0.50150350
114MP0001765_abnormal_ion_homeostasis0.48918039
115MP0000639_abnormal_adrenal_gland0.47648552
116MP0000579_abnormal_nail_morphology0.41434653
117MP0001731_abnormal_postnatal_growth0.40755628

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.44979962
2Myokymia (HP:0002411)7.37396368
3Focal seizures (HP:0007359)5.76547378
4Visual hallucinations (HP:0002367)5.60463345
5Epileptic encephalopathy (HP:0200134)4.66176565
6Progressive cerebellar ataxia (HP:0002073)4.54964261
7Action tremor (HP:0002345)4.42868720
8Atonic seizures (HP:0010819)4.35345559
9Febrile seizures (HP:0002373)4.31928295
10Absence seizures (HP:0002121)3.99073577
11Generalized tonic-clonic seizures (HP:0002069)3.86217202
12Supranuclear gaze palsy (HP:0000605)3.84611955
13Ankle clonus (HP:0011448)3.77545755
14Papilledema (HP:0001085)3.74814981
15Poor eye contact (HP:0000817)3.63041025
16Dialeptic seizures (HP:0011146)3.61643102
17Gaze-evoked nystagmus (HP:0000640)3.52683586
18Broad-based gait (HP:0002136)3.51306757
19Impaired vibration sensation in the lower limbs (HP:0002166)3.48756972
20Depression (HP:0000716)3.45148770
21Cerebral hypomyelination (HP:0006808)3.39456290
22Urinary bladder sphincter dysfunction (HP:0002839)3.35776778
23Mutism (HP:0002300)3.35119383
24Dysdiadochokinesis (HP:0002075)3.32087031
25Postural instability (HP:0002172)3.32051982
26Abnormal social behavior (HP:0012433)3.28981018
27Impaired social interactions (HP:0000735)3.28981018
28Dysmetria (HP:0001310)3.20999284
29Genetic anticipation (HP:0003743)3.11250567
30Abnormality of the lower motor neuron (HP:0002366)3.09300962
31Anxiety (HP:0000739)3.05868559
32Truncal ataxia (HP:0002078)3.04776956
33Impaired smooth pursuit (HP:0007772)3.03439332
34Abnormal eating behavior (HP:0100738)3.02510727
35Akinesia (HP:0002304)2.96856657
36Hemiplegia (HP:0002301)2.89145230
37Torticollis (HP:0000473)2.82373798
38Ventricular fibrillation (HP:0001663)2.80856773
39Intention tremor (HP:0002080)2.79694360
40Urinary urgency (HP:0000012)2.76438641
41Delusions (HP:0000746)2.74613378
42Scanning speech (HP:0002168)2.71317119
43Spastic gait (HP:0002064)2.68791638
44Abnormality of ocular smooth pursuit (HP:0000617)2.64576686
45Focal dystonia (HP:0004373)2.63683023
46Abnormality of binocular vision (HP:0011514)2.63267708
47Diplopia (HP:0000651)2.63267708
48Hemiparesis (HP:0001269)2.62686331
49Amblyopia (HP:0000646)2.62686159
50Dysmetric saccades (HP:0000641)2.58994963
51Hyperventilation (HP:0002883)2.58544287
52Bradykinesia (HP:0002067)2.57495592
53Stereotypic behavior (HP:0000733)2.53718348
54Drooling (HP:0002307)2.52444160
55Excessive salivation (HP:0003781)2.52444160
56Progressive inability to walk (HP:0002505)2.47676687
57Sleep apnea (HP:0010535)2.44146464
58Annular pancreas (HP:0001734)2.41210494
59Neurofibrillary tangles (HP:0002185)2.41152282
60Megalencephaly (HP:0001355)2.40220056
61Epileptiform EEG discharges (HP:0011182)2.37750319
62Impaired vibratory sensation (HP:0002495)2.35444089
63Peripheral hypomyelination (HP:0007182)2.35059655
64Status epilepticus (HP:0002133)2.34582473
65Spastic tetraparesis (HP:0001285)2.33141956
66Cerebral inclusion bodies (HP:0100314)2.32369849
67EEG with generalized epileptiform discharges (HP:0011198)2.31701860
68Bundle branch block (HP:0011710)2.30337317
69Craniofacial dystonia (HP:0012179)2.30065773
70Agitation (HP:0000713)2.27985730
71Insomnia (HP:0100785)2.27189037
72Pointed chin (HP:0000307)2.26798713
73Hypsarrhythmia (HP:0002521)2.24754393
74Fetal akinesia sequence (HP:0001989)2.23396914
75Lower limb muscle weakness (HP:0007340)2.22254591
76Diminished motivation (HP:0000745)2.18139648
77Abnormality of the corticospinal tract (HP:0002492)2.18034342
78Obstructive sleep apnea (HP:0002870)2.17959298
79Insidious onset (HP:0003587)2.15860425
80Termporal pattern (HP:0011008)2.15860425
81Choreoathetosis (HP:0001266)2.15360975
82Pheochromocytoma (HP:0002666)2.13070131
83Increased circulating renin level (HP:0000848)2.11937921
84CNS hypomyelination (HP:0003429)2.09650383
85Generalized myoclonic seizures (HP:0002123)2.09448185
86Clonus (HP:0002169)2.08677637
87Absent speech (HP:0001344)2.08149806
88Blue irides (HP:0000635)2.04267940
89Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.04145030
90Ocular albinism (HP:0001107)2.02058224
91Iris hypopigmentation (HP:0007730)2.00725370
92Amyotrophic lateral sclerosis (HP:0007354)2.00692949
93Abnormality of saccadic eye movements (HP:0000570)1.99817154
94Neuronal loss in central nervous system (HP:0002529)1.98703251
95Limb dystonia (HP:0002451)1.98525032
96Morphological abnormality of the pyramidal tract (HP:0002062)1.97838377
97Gait ataxia (HP:0002066)1.96513313
98Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.93344429
99Degeneration of the lateral corticospinal tracts (HP:0002314)1.93344429
100Inability to walk (HP:0002540)1.91812739
101Abnormal EKG (HP:0003115)1.91332151
102Incomplete penetrance (HP:0003829)1.91287809
103Lower limb amyotrophy (HP:0007210)1.90942031
104Inappropriate behavior (HP:0000719)1.88298472
105Polyphagia (HP:0002591)1.87644176
106Rigidity (HP:0002063)1.87492584
107Tetraplegia (HP:0002445)1.86121978
108Resting tremor (HP:0002322)1.81856428
109Ankyloglossia (HP:0010296)1.79853120
110Rapidly progressive (HP:0003678)1.78047113
111Apathy (HP:0000741)1.78041096
112Lower limb asymmetry (HP:0100559)1.77937524
113Heterochromia iridis (HP:0001100)1.77757172
114Intellectual disability, profound (HP:0002187)1.74858769
115Neuroendocrine neoplasm (HP:0100634)1.74700158
116Spinal canal stenosis (HP:0003416)1.73343134
117Limb ataxia (HP:0002070)1.73195501
118Memory impairment (HP:0002354)1.71322895
119Heart block (HP:0012722)1.69928291

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.51557867
2MAP3K94.20384257
3EPHA44.09657726
4MARK13.26157329
5MAP3K42.90626996
6DAPK22.77318976
7MINK12.74307573
8PRKD32.51064507
9PAK62.51039674
10MAP2K72.36393472
11CAMKK12.23857343
12NTRK22.23784442
13KSR22.18022513
14NTRK12.02585847
15MAP2K41.83908315
16STK381.66919964
17CDK51.60849312
18DAPK11.55817858
19RIPK41.55069384
20MAP3K121.54530200
21KSR11.46090116
22TNIK1.41684918
23MAP3K21.37482340
24GRK51.34725530
25SIK21.34338751
26CDK191.31899162
27PRPF4B1.28423420
28PLK21.27845794
29CAMKK21.27807082
30TAOK11.26927945
31PRKCG1.22321980
32TYRO31.19699370
33UHMK11.18784611
34LATS21.17202398
35MAPK131.16959545
36FES1.10868652
37CAMK11.09414029
38ALK1.09163962
39PRKCH1.08149885
40MAP3K131.05783985
41ARAF1.05389870
42PHKG21.03819672
43PHKG11.03819672
44STK111.01676849
45CASK0.95463674
46RET0.93400068
47CDK150.90326380
48SGK2230.90210337
49SGK4940.90210337
50CDK180.90015710
51RIPK10.88629809
52CAMK2A0.86159233
53PNCK0.85871685
54CDK140.83855242
55LMTK20.83032341
56MARK20.82576123
57PINK10.82525242
58SGK30.79790082
59MAPK120.79089903
60CDK11A0.78686041
61PAK30.78265781
62SGK20.78190953
63SCYL20.74839482
64PDK10.73291472
65LIMK10.70673849
66SGK10.69274735
67RAF10.68771770
68MAP3K10.65809811
69CAMK2B0.65801125
70CSNK1G20.65363201
71PDPK10.64351458
72PKN10.63740949
73DYRK1A0.63143483
74CDC42BPA0.61653613
75OXSR10.60470679
76BRSK10.59473881
77NEK10.58375541
78PTK2B0.57717344
79TNK20.56418257
80FGFR20.56228324
81MAP3K70.56140093
82NEK60.55468112
83RPS6KA30.53795883
84MAP3K110.53737027
85WNK10.53120182
86CAMK40.52452738
87TESK10.52435539
88CAMK1G0.51724933
89BRAF0.50280991
90PRKCZ0.48239220
91ROCK20.47882386
92FYN0.47572857
93MAPK100.44811935
94BMPR20.43230496
95PRKCE0.40081973
96CAMK2G0.39641277
97DAPK30.39315069
98DMPK0.37905355
99WNK30.37875746
100PRKCA0.36274383
101CAMK2D0.36147332
102RPS6KA20.34398938
103FER0.34098358
104PRKG20.33957444
105MAP2K10.33405916
106CCNB10.33284014
107PRKCB0.31513643
108MAP3K60.30886713
109MAP2K60.30693072
110ERBB20.28548999
111DDR20.27351483
112IRAK20.27270444
113MAPK80.27006711
114ROCK10.26987047

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.49524761
2Synaptic vesicle cycle_Homo sapiens_hsa047213.34707145
3Olfactory transduction_Homo sapiens_hsa047402.78387798
4Circadian entrainment_Homo sapiens_hsa047132.72045535
5GABAergic synapse_Homo sapiens_hsa047272.69013646
6Long-term potentiation_Homo sapiens_hsa047202.63970507
7Glutamatergic synapse_Homo sapiens_hsa047242.59285981
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.55343028
9Morphine addiction_Homo sapiens_hsa050322.44746434
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.37513050
11Amphetamine addiction_Homo sapiens_hsa050312.37207515
12Salivary secretion_Homo sapiens_hsa049702.18589161
13Insulin secretion_Homo sapiens_hsa049112.13637596
14Dopaminergic synapse_Homo sapiens_hsa047282.09215211
15Gastric acid secretion_Homo sapiens_hsa049711.97058445
16Cholinergic synapse_Homo sapiens_hsa047251.92915155
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.92435903
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.71865302
19Long-term depression_Homo sapiens_hsa047301.64699894
20Taste transduction_Homo sapiens_hsa047421.63967583
21Oxytocin signaling pathway_Homo sapiens_hsa049211.63388859
22Cocaine addiction_Homo sapiens_hsa050301.58564562
23Renin secretion_Homo sapiens_hsa049241.55413961
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.53200134
25Calcium signaling pathway_Homo sapiens_hsa040201.52084498
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.48255350
27Serotonergic synapse_Homo sapiens_hsa047261.47537481
28GnRH signaling pathway_Homo sapiens_hsa049121.45919075
29Nitrogen metabolism_Homo sapiens_hsa009101.44817726
30Vitamin B6 metabolism_Homo sapiens_hsa007501.43367587
31Type II diabetes mellitus_Homo sapiens_hsa049301.40458936
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.37813795
33Gap junction_Homo sapiens_hsa045401.30843041
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29833644
35cAMP signaling pathway_Homo sapiens_hsa040241.29516624
36Estrogen signaling pathway_Homo sapiens_hsa049151.21005377
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20160533
38Glioma_Homo sapiens_hsa052141.19055377
39Collecting duct acid secretion_Homo sapiens_hsa049661.12725698
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.09358270
41ErbB signaling pathway_Homo sapiens_hsa040121.03776524
42Melanogenesis_Homo sapiens_hsa049161.03366261
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.03360400
44Axon guidance_Homo sapiens_hsa043601.02396352
45Pancreatic secretion_Homo sapiens_hsa049720.91342216
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.91166589
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.89982486
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.89011380
49Dorso-ventral axis formation_Homo sapiens_hsa043200.87912957
50Oocyte meiosis_Homo sapiens_hsa041140.87338052
51Thyroid hormone synthesis_Homo sapiens_hsa049180.86947505
52Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.83323978
53Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78742205
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78052572
55Vibrio cholerae infection_Homo sapiens_hsa051100.77825194
56Cardiac muscle contraction_Homo sapiens_hsa042600.76917790
57Dilated cardiomyopathy_Homo sapiens_hsa054140.73974055
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.72279593
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70322905
60Choline metabolism in cancer_Homo sapiens_hsa052310.70305596
61MAPK signaling pathway_Homo sapiens_hsa040100.70074435
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66296497
63Type I diabetes mellitus_Homo sapiens_hsa049400.65380694
64Bile secretion_Homo sapiens_hsa049760.62649011
65VEGF signaling pathway_Homo sapiens_hsa043700.62337497
66mTOR signaling pathway_Homo sapiens_hsa041500.62257939
67Phototransduction_Homo sapiens_hsa047440.61886419
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60973473
69Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60947881
70Glucagon signaling pathway_Homo sapiens_hsa049220.57971289
71Endocytosis_Homo sapiens_hsa041440.56898149
72Ras signaling pathway_Homo sapiens_hsa040140.56154623
73Rap1 signaling pathway_Homo sapiens_hsa040150.55892307
74Inositol phosphate metabolism_Homo sapiens_hsa005620.53853812
75Sphingolipid signaling pathway_Homo sapiens_hsa040710.53468399
76Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50942441
77Endometrial cancer_Homo sapiens_hsa052130.49794633
78Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49656066
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49085610
80Circadian rhythm_Homo sapiens_hsa047100.47223024
81Alcoholism_Homo sapiens_hsa050340.46792822
82Non-small cell lung cancer_Homo sapiens_hsa052230.46205116
83Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46119491
84Insulin signaling pathway_Homo sapiens_hsa049100.45140394
85Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.43141014
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42108762
87Prion diseases_Homo sapiens_hsa050200.41689530
88Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.40897783
89Renal cell carcinoma_Homo sapiens_hsa052110.40437075
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.40259942
91Mineral absorption_Homo sapiens_hsa049780.39164640
92SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38895516
93Chemokine signaling pathway_Homo sapiens_hsa040620.38451749
94Ovarian steroidogenesis_Homo sapiens_hsa049130.37917247
95Wnt signaling pathway_Homo sapiens_hsa043100.37298690
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34730169
97Arginine biosynthesis_Homo sapiens_hsa002200.34585937
98Arginine and proline metabolism_Homo sapiens_hsa003300.32684423
99Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.31632732
100Fatty acid biosynthesis_Homo sapiens_hsa000610.30958621
101Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29880383
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28254319
103Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.28048001
104Prolactin signaling pathway_Homo sapiens_hsa049170.27127390
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25820763
106African trypanosomiasis_Homo sapiens_hsa051430.25777971
107beta-Alanine metabolism_Homo sapiens_hsa004100.22005951
108AMPK signaling pathway_Homo sapiens_hsa041520.21646509
109Tight junction_Homo sapiens_hsa045300.21206147
110Alzheimers disease_Homo sapiens_hsa050100.19812426
111Regulation of autophagy_Homo sapiens_hsa041400.19270994
112Histidine metabolism_Homo sapiens_hsa003400.19054709
113HIF-1 signaling pathway_Homo sapiens_hsa040660.16659576

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