SLITRK1

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





Description: This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.40451407
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.81674603
3locomotory exploration behavior (GO:0035641)5.74454099
4synaptic vesicle maturation (GO:0016188)5.73521100
5glutamate secretion (GO:0014047)5.70978339
6pyrimidine nucleobase catabolic process (GO:0006208)5.65902841
7synaptic vesicle exocytosis (GO:0016079)5.64995761
8vocalization behavior (GO:0071625)5.63364991
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.52688925
10ionotropic glutamate receptor signaling pathway (GO:0035235)5.40234011
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.25738861
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.18403064
13neuron cell-cell adhesion (GO:0007158)5.07578910
14regulation of synaptic vesicle exocytosis (GO:2000300)5.06390505
15regulation of glutamate receptor signaling pathway (GO:1900449)5.05006161
16protein localization to synapse (GO:0035418)4.97753243
17glutamate receptor signaling pathway (GO:0007215)4.83726123
18synaptic transmission, glutamatergic (GO:0035249)4.79037925
19neuronal action potential propagation (GO:0019227)4.77699588
20nucleobase catabolic process (GO:0046113)4.63545488
21exploration behavior (GO:0035640)4.62110804
22neurotransmitter secretion (GO:0007269)4.55860669
23regulation of synaptic vesicle transport (GO:1902803)4.52748382
24regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.51063557
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.44405656
26neurotransmitter-gated ion channel clustering (GO:0072578)4.40871415
27regulation of neuronal synaptic plasticity (GO:0048168)4.39571480
28neuron-neuron synaptic transmission (GO:0007270)4.38310688
29positive regulation of synapse maturation (GO:0090129)4.19923355
30regulation of excitatory postsynaptic membrane potential (GO:0060079)4.15364866
31presynaptic membrane assembly (GO:0097105)4.08979898
32regulation of postsynaptic membrane potential (GO:0060078)3.98751581
33layer formation in cerebral cortex (GO:0021819)3.95604324
34long-term memory (GO:0007616)3.93258541
35neuron recognition (GO:0008038)3.92416895
36positive regulation of membrane potential (GO:0045838)3.91377203
37presynaptic membrane organization (GO:0097090)3.90549830
38cellular potassium ion homeostasis (GO:0030007)3.89108507
39cerebellar granule cell differentiation (GO:0021707)3.88273670
40cell migration in hindbrain (GO:0021535)3.87010661
41dendritic spine morphogenesis (GO:0060997)3.86284886
42regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.86047797
43regulation of synapse structural plasticity (GO:0051823)3.83612308
44gamma-aminobutyric acid transport (GO:0015812)3.82151547
45gamma-aminobutyric acid signaling pathway (GO:0007214)3.79796832
46proline transport (GO:0015824)3.79127596
47cerebellar Purkinje cell differentiation (GO:0021702)3.77560963
48postsynaptic membrane organization (GO:0001941)3.76483885
49membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.76185630
50regulation of synaptic plasticity (GO:0048167)3.72129894
51positive regulation of dendritic spine morphogenesis (GO:0061003)3.68053475
52establishment of mitochondrion localization (GO:0051654)3.65295020
53axonal fasciculation (GO:0007413)3.64449915
54neurotransmitter transport (GO:0006836)3.62557824
55long-term synaptic potentiation (GO:0060291)3.61404475
56G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.60176871
57negative regulation of synaptic transmission, GABAergic (GO:0032229)3.58384806
58neuronal ion channel clustering (GO:0045161)3.55125558
59regulation of neurotransmitter secretion (GO:0046928)3.51537350
60regulation of synaptic transmission, glutamatergic (GO:0051966)3.49770020
61synaptic vesicle endocytosis (GO:0048488)3.48100864
62neuromuscular synaptic transmission (GO:0007274)3.46912814
63regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.45721316
64regulation of dendritic spine morphogenesis (GO:0061001)3.42397838
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.40342049
66regulation of neurotransmitter levels (GO:0001505)3.38993497
67behavioral fear response (GO:0001662)3.37534946
68behavioral defense response (GO:0002209)3.37534946
69sodium ion export (GO:0071436)3.35665788
70membrane depolarization (GO:0051899)3.35026898
71dendrite morphogenesis (GO:0048813)3.34976139
72behavioral response to nicotine (GO:0035095)3.33694414
73response to histamine (GO:0034776)3.32485957
74innervation (GO:0060384)3.31117551
75activation of protein kinase A activity (GO:0034199)3.29877474
76transmission of nerve impulse (GO:0019226)3.29857306
77positive regulation of neurotransmitter secretion (GO:0001956)3.29712114
78regulation of synapse maturation (GO:0090128)3.29072069
79negative regulation of dendrite development (GO:2000171)3.28571862
80neuromuscular process controlling balance (GO:0050885)3.27668676
81cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.24823353
82regulation of vesicle fusion (GO:0031338)3.24089705
83adult walking behavior (GO:0007628)3.23227983
84positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.23106113
85glycosphingolipid biosynthetic process (GO:0006688)3.22452988
86membrane depolarization during action potential (GO:0086010)3.22101270
87positive regulation of dendritic spine development (GO:0060999)3.22083259
88fear response (GO:0042596)3.21087860
89membrane hyperpolarization (GO:0060081)3.20427075
90neuromuscular process controlling posture (GO:0050884)3.17697270
91cell communication by electrical coupling (GO:0010644)3.16923465
92regulation of neurotransmitter transport (GO:0051588)3.15658315
93negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.15229426
94learning (GO:0007612)3.14441574
95startle response (GO:0001964)3.14341218
96synapse organization (GO:0050808)3.13979744
97synapse assembly (GO:0007416)3.09898446
98auditory behavior (GO:0031223)3.08546943
99G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.07458126
100regulation of synaptic transmission (GO:0050804)3.06349876
101synaptic transmission (GO:0007268)3.05842818
102regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.05787044
103regulation of dendritic spine development (GO:0060998)3.04683478
104regulation of voltage-gated calcium channel activity (GO:1901385)3.03838453
105response to auditory stimulus (GO:0010996)3.01324944
106positive regulation of synaptic transmission (GO:0050806)3.01196361
107neuromuscular process (GO:0050905)3.01147676
108central nervous system projection neuron axonogenesis (GO:0021952)3.00052823
109cerebral cortex radially oriented cell migration (GO:0021799)2.99366600
110positive regulation of neurotransmitter transport (GO:0051590)2.99108378
111regulation of respiratory system process (GO:0044065)2.98590720
112positive regulation of synapse assembly (GO:0051965)2.96799441
113central nervous system neuron axonogenesis (GO:0021955)2.96273447
114positive regulation of synaptic transmission, GABAergic (GO:0032230)2.95922008
115cochlea development (GO:0090102)2.95572298
116establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.95417614
117mitochondrion transport along microtubule (GO:0047497)2.95417614
118mechanosensory behavior (GO:0007638)2.95049877
119chemosensory behavior (GO:0007635)2.94587292
120synaptic vesicle transport (GO:0048489)2.90996453
121establishment of synaptic vesicle localization (GO:0097480)2.90996453
122serotonin metabolic process (GO:0042428)2.89826988
123neuronal action potential (GO:0019228)2.88949409
124central nervous system myelination (GO:0022010)2.88118768
125axon ensheathment in central nervous system (GO:0032291)2.88118768
126negative regulation of axonogenesis (GO:0050771)2.85541752

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.30986437
2GBX2_23144817_ChIP-Seq_PC3_Human4.08876460
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.14777332
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.09002035
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05572877
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.69531546
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69298275
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69298275
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.61909513
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.57093630
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.57076769
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47730643
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.45980579
14DROSHA_22980978_ChIP-Seq_HELA_Human2.45338123
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.42946587
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42898570
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.41181082
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.32019681
19ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.23934881
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.22590009
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.17922683
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.16924600
23* REST_18959480_ChIP-ChIP_MESCs_Mouse2.16309830
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.15890836
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.07900699
26CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01154038
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.90314779
28AR_21572438_ChIP-Seq_LNCaP_Human1.88823659
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.88157676
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82384792
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.82318705
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.78887603
33* TAF15_26573619_Chip-Seq_HEK293_Human1.76684767
34SMAD4_21799915_ChIP-Seq_A2780_Human1.76214536
35EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.64577741
36* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.64477236
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57536641
38HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.54042431
39ZNF274_21170338_ChIP-Seq_K562_Hela1.52009238
40* P300_19829295_ChIP-Seq_ESCs_Human1.48877916
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.42759715
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.40267928
43SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38699649
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38522967
45* SMAD3_21741376_ChIP-Seq_EPCs_Human1.38174511
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36489875
47RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.35629804
48* SOX2_21211035_ChIP-Seq_LN229_Gbm1.35300482
49* AR_25329375_ChIP-Seq_VCAP_Human1.32374453
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.30628048
51* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30204226
52* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.27391703
53RING1B_27294783_Chip-Seq_ESCs_Mouse1.27315278
54* CBX2_27304074_Chip-Seq_ESCs_Mouse1.27115067
55STAT3_23295773_ChIP-Seq_U87_Human1.27030981
56* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25952423
57TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25218048
58GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22942848
59* AR_19668381_ChIP-Seq_PC3_Human1.21974558
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21957301
61RBPJ_22232070_ChIP-Seq_NCS_Mouse1.20061739
62* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19062494
63ARNT_22903824_ChIP-Seq_MCF-7_Human1.18768883
64RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.18750582
65POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17923764
66IGF1R_20145208_ChIP-Seq_DFB_Human1.17002083
67* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.15001444
68TCF4_23295773_ChIP-Seq_U87_Human1.14047255
69* EWS_26573619_Chip-Seq_HEK293_Human1.13865097
70* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13272294
71FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.10989828
72AHR_22903824_ChIP-Seq_MCF-7_Human1.10249205
73* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09057252
74* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08926618
75* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08722765
76P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08668541
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08216428
78RING1B_27294783_Chip-Seq_NPCs_Mouse1.07921237
79GATA1_26923725_Chip-Seq_HPCs_Mouse1.07812574
80* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.07430833
81* RNF2_27304074_Chip-Seq_NSC_Mouse1.07252146
82IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.06695793
83CBP_20019798_ChIP-Seq_JUKART_Human1.06695793
84* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06394993
85* FUS_26573619_Chip-Seq_HEK293_Human1.06332599
86* SOX9_26525672_Chip-Seq_HEART_Mouse1.05716571
87DNAJC2_21179169_ChIP-ChIP_NT2_Human1.05197803
88VDR_22108803_ChIP-Seq_LS180_Human1.03871443
89PRDM14_20953172_ChIP-Seq_ESCs_Human1.02148714
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01755707
91LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01409179
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01031278
93* TP53_16413492_ChIP-PET_HCT116_Human0.98896802
94POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98587710
95TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98587710
96* RUNX2_22187159_ChIP-Seq_PCA_Human0.97130045
97OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96458835
98UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.96445223
99* SMAD3_21741376_ChIP-Seq_ESCs_Human0.96053792
100KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.95793607
101* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94838593
102TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94737046
103CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94708086
104TP53_18474530_ChIP-ChIP_U2OS_Human0.94292547
105* TAL1_26923725_Chip-Seq_HPCs_Mouse0.93750109
106TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.93691558
107KDM2B_26808549_Chip-Seq_REH_Human0.93329367
108STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.92844180
109* CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.92327948
110NANOG_18555785_Chip-Seq_ESCs_Mouse0.92096823
111VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91689489
112* JUN_21703547_ChIP-Seq_K562_Human0.91208485
113WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.90925075
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.90416635
115RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.90320185
116* RXR_22108803_ChIP-Seq_LS180_Human0.89051282
117ER_23166858_ChIP-Seq_MCF-7_Human0.88626911
118SMAD3_21741376_ChIP-Seq_HESCs_Human0.88590722

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.85905154
2MP0003880_abnormal_central_pattern5.15708582
3MP0003635_abnormal_synaptic_transmissio4.31160874
4MP0004270_analgesia3.81780516
5MP0009745_abnormal_behavioral_response3.51272318
6MP0002063_abnormal_learning/memory/cond3.45633161
7MP0002064_seizures3.28725490
8MP0009046_muscle_twitch3.23832046
9MP0001968_abnormal_touch/_nociception3.19302571
10* MP0002572_abnormal_emotion/affect_behav2.93235111
11MP0005423_abnormal_somatic_nervous2.90510086
12MP0002272_abnormal_nervous_system2.68560663
13MP0002734_abnormal_mechanical_nocicepti2.65046550
14MP0001486_abnormal_startle_reflex2.60511816
15MP0002736_abnormal_nociception_after2.56396773
16MP0002735_abnormal_chemical_nociception2.50125166
17MP0001501_abnormal_sleep_pattern2.32779065
18MP0001440_abnormal_grooming_behavior2.27557943
19MP0002067_abnormal_sensory_capabilities2.12030161
20MP0002733_abnormal_thermal_nociception1.99461065
21MP0008569_lethality_at_weaning1.96679333
22MP0001970_abnormal_pain_threshold1.95966718
23MP0002184_abnormal_innervation1.95182049
24MP0000778_abnormal_nervous_system1.94724969
25MP0002822_catalepsy1.82705445
26MP0003329_amyloid_beta_deposits1.82549768
27MP0009780_abnormal_chondrocyte_physiolo1.82316232
28MP0002557_abnormal_social/conspecific_i1.79847318
29MP0004811_abnormal_neuron_physiology1.78573954
30MP0005386_behavior/neurological_phenoty1.77415376
31MP0004924_abnormal_behavior1.77415376
32MP0003879_abnormal_hair_cell1.77394081
33MP0004858_abnormal_nervous_system1.75440204
34MP0006276_abnormal_autonomic_nervous1.66207276
35MP0002653_abnormal_ependyma_morphology1.60810745
36MP0000955_abnormal_spinal_cord1.59261566
37MP0005646_abnormal_pituitary_gland1.57753806
38MP0003121_genomic_imprinting1.56890914
39MP0002909_abnormal_adrenal_gland1.47966088
40MP0003787_abnormal_imprinting1.45673821
41* MP0002066_abnormal_motor_capabilities/c1.44664723
42MP0002882_abnormal_neuron_morphology1.44004621
43MP0001984_abnormal_olfaction1.42797873
44MP0002638_abnormal_pupillary_reflex1.40866289
45MP0004885_abnormal_endolymph1.40455379
46MP0005645_abnormal_hypothalamus_physiol1.37783182
47MP0001188_hyperpigmentation1.31418805
48* MP0003633_abnormal_nervous_system1.31038365
49MP0008877_abnormal_DNA_methylation1.29339161
50MP0002102_abnormal_ear_morphology1.29230944
51MP0004142_abnormal_muscle_tone1.28968501
52MP0001502_abnormal_circadian_rhythm1.26707584
53MP0000569_abnormal_digit_pigmentation1.18164020
54* MP0003631_nervous_system_phenotype1.15090013
55MP0001905_abnormal_dopamine_level1.14640963
56MP0004145_abnormal_muscle_electrophysio1.14633361
57MP0002152_abnormal_brain_morphology1.13779461
58MP0003122_maternal_imprinting1.13060249
59MP0001529_abnormal_vocalization1.10071812
60MP0008872_abnormal_physiological_respon1.03802432
61MP0004742_abnormal_vestibular_system1.02873174
62MP0000751_myopathy0.98767079
63MP0002751_abnormal_autonomic_nervous0.98500232
64MP0010386_abnormal_urinary_bladder0.94406674
65MP0002069_abnormal_eating/drinking_beha0.93779002
66MP0002229_neurodegeneration0.93465582
67MP0000049_abnormal_middle_ear0.91317969
68MP0008874_decreased_physiological_sensi0.90315968
69MP0004133_heterotaxia0.89194816
70MP0003632_abnormal_nervous_system0.88343183
71MP0001963_abnormal_hearing_physiology0.88083386
72MP0003123_paternal_imprinting0.87645243
73MP0004085_abnormal_heartbeat0.82093560
74MP0005551_abnormal_eye_electrophysiolog0.81582354
75MP0003634_abnormal_glial_cell0.78653539
76MP0000604_amyloidosis0.78455621
77MP0001986_abnormal_taste_sensitivity0.77822603
78MP0008789_abnormal_olfactory_epithelium0.77768917
79MP0003119_abnormal_digestive_system0.77597834
80MP0003690_abnormal_glial_cell0.76800704
81MP0001177_atelectasis0.76608084
82MP0005409_darkened_coat_color0.75761772
83MP0003938_abnormal_ear_development0.75066489
84MP0002752_abnormal_somatic_nervous0.75009064
85MP0000920_abnormal_myelination0.74470849
86MP0001485_abnormal_pinna_reflex0.72500780
87MP0004215_abnormal_myocardial_fiber0.72386292
88MP0005253_abnormal_eye_physiology0.72271859
89MP0005171_absent_coat_pigmentation0.70662830
90MP0005394_taste/olfaction_phenotype0.70208263
91MP0005499_abnormal_olfactory_system0.70208263
92MP0005535_abnormal_body_temperature0.69876593
93MP0004147_increased_porphyrin_level0.69661236
94MP0000631_abnormal_neuroendocrine_gland0.69519815
95MP0004484_altered_response_of0.69343140
96MP0003075_altered_response_to0.68168776
97MP0003890_abnormal_embryonic-extraembry0.65566072
98MP0000013_abnormal_adipose_tissue0.63831806
99MP0004510_myositis0.63154086
100MP0001664_abnormal_digestion0.62750341
101MP0004233_abnormal_muscle_weight0.62338885
102MP0008961_abnormal_basal_metabolism0.61416843
103MP0005195_abnormal_posterior_eye0.61399072
104MP0003861_abnormal_nervous_system0.61127639
105MP0005367_renal/urinary_system_phenotyp0.60867821
106MP0000516_abnormal_urinary_system0.60867821
107MP0002081_perinatal_lethality0.60648537
108MP0002234_abnormal_pharynx_morphology0.60303852
109MP0003137_abnormal_impulse_conducting0.59497741
110MP0002160_abnormal_reproductive_system0.59050683
111* MP0010769_abnormal_survival0.58191819
112* MP0002082_postnatal_lethality0.56865852
113* MP0010770_preweaning_lethality0.56865852
114MP0001943_abnormal_respiration0.56307674
115MP0002837_dystrophic_cardiac_calcinosis0.54762289
116* MP0010768_mortality/aging0.54699321
117MP0002876_abnormal_thyroid_physiology0.51955874
118MP0005187_abnormal_penis_morphology0.51778756
119MP0001299_abnormal_eye_distance/0.51005305
120MP0000026_abnormal_inner_ear0.50244519
121MP0003283_abnormal_digestive_organ0.50011248
122* MP0003956_abnormal_body_size0.49888605

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.29664697
2Myokymia (HP:0002411)6.44943387
3Focal seizures (HP:0007359)6.15220978
4Epileptic encephalopathy (HP:0200134)5.59225613
5Visual hallucinations (HP:0002367)5.13227151
6Atonic seizures (HP:0010819)4.94419135
7Progressive cerebellar ataxia (HP:0002073)4.87720995
8Febrile seizures (HP:0002373)4.78768518
9Absence seizures (HP:0002121)4.50896273
10Hyperventilation (HP:0002883)4.26949937
11Action tremor (HP:0002345)4.21294812
12Dialeptic seizures (HP:0011146)4.15164893
13Generalized tonic-clonic seizures (HP:0002069)4.04074498
14Broad-based gait (HP:0002136)4.01758867
15Gaze-evoked nystagmus (HP:0000640)3.68161319
16Poor eye contact (HP:0000817)3.67042588
17Supranuclear gaze palsy (HP:0000605)3.35713296
18Impaired social interactions (HP:0000735)3.24848599
19Abnormal social behavior (HP:0012433)3.24848599
20Excessive salivation (HP:0003781)3.21073319
21Drooling (HP:0002307)3.21073319
22Dysdiadochokinesis (HP:0002075)3.19962276
23Amblyopia (HP:0000646)3.17591954
24Truncal ataxia (HP:0002078)3.15759491
25Genetic anticipation (HP:0003743)3.14152633
26Impaired vibration sensation in the lower limbs (HP:0002166)3.13050623
27Dysmetria (HP:0001310)3.08604125
28Depression (HP:0000716)3.05972727
29Mutism (HP:0002300)2.96894100
30Postural instability (HP:0002172)2.96525820
31Urinary bladder sphincter dysfunction (HP:0002839)2.95350531
32Ankle clonus (HP:0011448)2.95276466
33Abnormal eating behavior (HP:0100738)2.94900349
34Gait imbalance (HP:0002141)2.91285209
35Impaired smooth pursuit (HP:0007772)2.89702662
36Absent speech (HP:0001344)2.86222570
37Scanning speech (HP:0002168)2.80434345
38Epileptiform EEG discharges (HP:0011182)2.77714894
39Anxiety (HP:0000739)2.77374521
40Degeneration of the lateral corticospinal tracts (HP:0002314)2.66906446
41Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.66906446
42Hemiparesis (HP:0001269)2.64793579
43Retinal dysplasia (HP:0007973)2.62557384
44Abnormality of binocular vision (HP:0011514)2.62009266
45Diplopia (HP:0000651)2.62009266
46Abnormality of the lower motor neuron (HP:0002366)2.61351477
47Lissencephaly (HP:0001339)2.58477801
48Stereotypic behavior (HP:0000733)2.58235498
49Dysmetric saccades (HP:0000641)2.57389695
50Papilledema (HP:0001085)2.54895251
51Inability to walk (HP:0002540)2.54841542
52Urinary urgency (HP:0000012)2.54558250
53Abnormality of ocular smooth pursuit (HP:0000617)2.53567801
54EEG with generalized epileptiform discharges (HP:0011198)2.53026412
55Progressive inability to walk (HP:0002505)2.50334852
56Bradykinesia (HP:0002067)2.47390230
57Status epilepticus (HP:0002133)2.43897584
58Hemiplegia (HP:0002301)2.43601827
59Spastic gait (HP:0002064)2.43000864
60Spastic tetraplegia (HP:0002510)2.39790159
61Cerebral inclusion bodies (HP:0100314)2.37475589
62Medial flaring of the eyebrow (HP:0010747)2.35532054
63Intention tremor (HP:0002080)2.35025641
64Hypsarrhythmia (HP:0002521)2.34205841
65Torticollis (HP:0000473)2.34073633
66Fetal akinesia sequence (HP:0001989)2.33362441
67Congenital primary aphakia (HP:0007707)2.32543226
68Cortical dysplasia (HP:0002539)2.31734956
69Insidious onset (HP:0003587)2.31217886
70Termporal pattern (HP:0011008)2.31217886
71Neurofibrillary tangles (HP:0002185)2.30564420
72Polyphagia (HP:0002591)2.30106120
73Blue irides (HP:0000635)2.29915552
74Morphological abnormality of the pyramidal tract (HP:0002062)2.29357161
75Abnormality of the corticospinal tract (HP:0002492)2.28598052
76Pachygyria (HP:0001302)2.25750802
77Protruding tongue (HP:0010808)2.25067188
78Focal dystonia (HP:0004373)2.22891600
79Impaired vibratory sensation (HP:0002495)2.21861616
80Pheochromocytoma (HP:0002666)2.21663428
81Limb dystonia (HP:0002451)2.20321414
82Peripheral hypomyelination (HP:0007182)2.20235904
83Nephrogenic diabetes insipidus (HP:0009806)2.19021320
84Hypoplasia of the corpus callosum (HP:0002079)2.16530158
85Abnormality of salivation (HP:0100755)2.11954907
86Generalized myoclonic seizures (HP:0002123)2.10548938
87Megalencephaly (HP:0001355)2.09848562
88Amyotrophic lateral sclerosis (HP:0007354)2.08937067
89Abnormality of the labia minora (HP:0012880)2.05371693
90Esotropia (HP:0000565)2.05241815
91Hypoventilation (HP:0002791)2.03751006
92Agitation (HP:0000713)2.03350489
93Inappropriate behavior (HP:0000719)2.02664407
94Vaginal atresia (HP:0000148)2.02369242
95Hepatoblastoma (HP:0002884)2.00783964
96Genital tract atresia (HP:0001827)2.00074682
97Incomplete penetrance (HP:0003829)1.99962948
98Poor suck (HP:0002033)1.97805174
99Lower limb muscle weakness (HP:0007340)1.97352978
100Gait ataxia (HP:0002066)1.96442742
101Split foot (HP:0001839)1.95331873
102Sleep apnea (HP:0010535)1.95236214
103Intellectual disability, severe (HP:0010864)1.94265712
104Paraplegia (HP:0010550)1.92489922
105Craniofacial dystonia (HP:0012179)1.89616332
106True hermaphroditism (HP:0010459)1.89030243
107Neuroendocrine neoplasm (HP:0100634)1.88985021
108Ventricular fibrillation (HP:0001663)1.86467011
109Exotropia (HP:0000577)1.81858459
110Abnormality of midbrain morphology (HP:0002418)1.81189260
111Molar tooth sign on MRI (HP:0002419)1.81189260
112Type II lissencephaly (HP:0007260)1.80345465
113Pointed chin (HP:0000307)1.79964332
114Neuronal loss in central nervous system (HP:0002529)1.79878355
115Oligodactyly (hands) (HP:0001180)1.79649782
116Obstructive sleep apnea (HP:0002870)1.78372022
117Psychosis (HP:0000709)1.77941194
118Annular pancreas (HP:0001734)1.77887373
119Ulnar claw (HP:0001178)1.77466209
120Aqueductal stenosis (HP:0002410)1.77194482
121Nephronophthisis (HP:0000090)1.76876800
122Pancreatic fibrosis (HP:0100732)1.76468572
123Clonus (HP:0002169)1.75917741
124Abnormality of saccadic eye movements (HP:0000570)1.74219902
125Rigidity (HP:0002063)1.73590994
126Specific learning disability (HP:0001328)1.72349779
127Widely spaced teeth (HP:0000687)1.72037730
128Delusions (HP:0000746)1.70032483
129Akinesia (HP:0002304)1.69670507
130Lower limb asymmetry (HP:0100559)1.69627931
131Open mouth (HP:0000194)1.68772783
132Hypoplasia of the brainstem (HP:0002365)1.68318641
133Aplasia/Hypoplasia of the brainstem (HP:0007362)1.68318641

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.60069345
2EPHA44.12226174
3MAP3K93.35114477
4MARK13.33528912
5MAP3K43.20425734
6CASK2.96397170
7MAP2K72.76617279
8MINK12.59805720
9DAPK22.57802748
10PAK62.25032350
11MAP3K122.17902566
12NTRK22.07396732
13MAP2K42.03433112
14CDK192.01096194
15DAPK11.88273465
16DYRK21.83145470
17RIPK41.82709465
18KSR11.77539461
19KSR21.75908883
20PLK21.73533720
21CAMKK11.68457702
22TNIK1.59353032
23MAPK131.58989677
24FRK1.58190923
25PRKD31.57532820
26PNCK1.54252055
27CDK51.52059007
28MAP4K21.49958076
29EPHA31.48729127
30PRPF4B1.48606486
31NTRK11.46662142
32CSNK1G31.45958847
33TRIM281.42909482
34CSNK1A1L1.35786887
35PRKCG1.33373164
36CAMKK21.30045805
37SIK21.23703451
38STK381.23278120
39GRK51.19841022
40CSNK1G11.13509118
41CCNB11.11177190
42CAMK2A1.10003114
43OXSR11.04712471
44FES1.01399696
45CAMK10.99648488
46DYRK30.99298503
47UHMK10.98517910
48SGK4940.98115888
49SGK2230.98115888
50CAMK2B0.95276601
51SGK20.95026209
52CDK180.94615890
53TYRO30.93488511
54LATS20.91411418
55MAP3K20.91021362
56CDK150.90244749
57ARAF0.90225657
58PHKG10.89482379
59PHKG20.89482379
60SIK30.86284672
61CDK140.85370418
62MAP3K130.85238510
63PKN10.82810523
64STK110.82395601
65PTK2B0.78999249
66CDK11A0.78116983
67RAF10.76766690
68CAMK1G0.76384946
69ERBB30.76249702
70RET0.75493127
71SGK10.75267198
72SGK30.75013007
73CSNK1G20.74116345
74TAOK10.71564253
75PRKCH0.71362258
76PAK30.71323815
77DYRK1A0.71017146
78BMPR20.68218973
79MARK20.65618138
80AKT30.64033028
81PDK10.59675564
82CSNK1A10.59379642
83ADRBK20.58243853
84PINK10.56543743
85DYRK1B0.55291773
86PDPK10.54777179
87LMTK20.53969977
88FGFR20.53304987
89CSNK1D0.52674872
90GRK10.52562667
91PRKCE0.52405010
92ALK0.52376531
93CAMK2G0.49227842
94WNK30.48997673
95CAMK40.48984354
96PRKCZ0.48865915
97NEK60.47325617
98CAMK2D0.47319673
99RPS6KA30.46453630
100MAP3K70.45157103
101MAP3K10.45108567
102RPS6KA40.45099282
103PRKACA0.44464559
104BCR0.44415070
105DMPK0.42832962
106PRKAA10.41799403
107FYN0.41761969
108WNK10.40623979
109FGR0.40247447
110MAPK120.39277885
111TNK20.39125046
112CSNK1E0.37563644
113MAPK80.37388485
114MAPK100.37153100
115FER0.36667820
116CDC42BPA0.36470000
117MAP2K10.36378812
118MAP3K60.35708974
119ERBB20.35103418
120DAPK30.34683063
121ROCK20.33687171
122PRKCB0.33458870
123GSK3B0.32488502
124MAPK90.30584651
125PRKCA0.30064013
126MAPK150.30001970
127PRKACB0.28916978
128PRKG10.28671259
129LIMK10.27939876
130INSRR0.26647524
131MAPKAPK50.26203818

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.22653579
2Synaptic vesicle cycle_Homo sapiens_hsa047213.35594074
3Long-term potentiation_Homo sapiens_hsa047202.88295596
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.83999908
5Circadian entrainment_Homo sapiens_hsa047132.81353150
6Glutamatergic synapse_Homo sapiens_hsa047242.74408419
7GABAergic synapse_Homo sapiens_hsa047272.67622598
8Amphetamine addiction_Homo sapiens_hsa050312.58593005
9Morphine addiction_Homo sapiens_hsa050322.47876476
10Olfactory transduction_Homo sapiens_hsa047402.46749933
11Salivary secretion_Homo sapiens_hsa049702.28092981
12Dopaminergic synapse_Homo sapiens_hsa047282.16823805
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.14483842
14Insulin secretion_Homo sapiens_hsa049112.03244295
15Long-term depression_Homo sapiens_hsa047301.87109021
16Cholinergic synapse_Homo sapiens_hsa047251.87062010
17Gastric acid secretion_Homo sapiens_hsa049711.86283897
18Taste transduction_Homo sapiens_hsa047421.84594546
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.83638279
20Renin secretion_Homo sapiens_hsa049241.67749305
21Serotonergic synapse_Homo sapiens_hsa047261.67638815
22Oxytocin signaling pathway_Homo sapiens_hsa049211.67351089
23Calcium signaling pathway_Homo sapiens_hsa040201.65362626
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64333931
25Cocaine addiction_Homo sapiens_hsa050301.61289256
26Collecting duct acid secretion_Homo sapiens_hsa049661.48628976
27GnRH signaling pathway_Homo sapiens_hsa049121.41093253
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.36813978
29Gap junction_Homo sapiens_hsa045401.32591839
30cAMP signaling pathway_Homo sapiens_hsa040241.31544867
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.30550044
32Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.29626698
33Axon guidance_Homo sapiens_hsa043601.27594899
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26765310
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.23686414
36Type II diabetes mellitus_Homo sapiens_hsa049301.21728211
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.12863154
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.11889608
39Estrogen signaling pathway_Homo sapiens_hsa049151.11395120
40ErbB signaling pathway_Homo sapiens_hsa040121.08354089
41Glioma_Homo sapiens_hsa052141.08014232
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05108833
43Melanogenesis_Homo sapiens_hsa049161.00993331
44Vibrio cholerae infection_Homo sapiens_hsa051100.97986868
45Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.93736988
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93329464
47Cardiac muscle contraction_Homo sapiens_hsa042600.91253683
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.88550107
49Pancreatic secretion_Homo sapiens_hsa049720.87880881
50Butanoate metabolism_Homo sapiens_hsa006500.86741247
51Oocyte meiosis_Homo sapiens_hsa041140.86472444
52Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78874819
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.78347198
54Dilated cardiomyopathy_Homo sapiens_hsa054140.73708051
55Choline metabolism in cancer_Homo sapiens_hsa052310.73656796
56MAPK signaling pathway_Homo sapiens_hsa040100.73595001
57Dorso-ventral axis formation_Homo sapiens_hsa043200.73261946
58Thyroid hormone synthesis_Homo sapiens_hsa049180.71573265
59Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.70277195
60Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.69140704
61Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.67008069
62Nitrogen metabolism_Homo sapiens_hsa009100.66247198
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65192616
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.63015505
65VEGF signaling pathway_Homo sapiens_hsa043700.60947250
66Ether lipid metabolism_Homo sapiens_hsa005650.60248780
67Phototransduction_Homo sapiens_hsa047440.60012936
68Ras signaling pathway_Homo sapiens_hsa040140.58946852
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.57587126
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55582995
71Rap1 signaling pathway_Homo sapiens_hsa040150.54036943
72Glucagon signaling pathway_Homo sapiens_hsa049220.53904124
73Circadian rhythm_Homo sapiens_hsa047100.53446173
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.51913205
75Oxidative phosphorylation_Homo sapiens_hsa001900.51869035
76Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50001046
77Parkinsons disease_Homo sapiens_hsa050120.49702674
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48935714
79Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.48653616
80Hippo signaling pathway_Homo sapiens_hsa043900.47599211
81Inositol phosphate metabolism_Homo sapiens_hsa005620.47256182
82Wnt signaling pathway_Homo sapiens_hsa043100.46536197
83mTOR signaling pathway_Homo sapiens_hsa041500.46481907
84Regulation of autophagy_Homo sapiens_hsa041400.45686360
85Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45343104
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45317269
87beta-Alanine metabolism_Homo sapiens_hsa004100.44609177
88Endometrial cancer_Homo sapiens_hsa052130.44547085
89Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.44273467
90Bile secretion_Homo sapiens_hsa049760.43486534
91Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43097160
92African trypanosomiasis_Homo sapiens_hsa051430.42812489
93Alcoholism_Homo sapiens_hsa050340.42711610
94Steroid biosynthesis_Homo sapiens_hsa001000.42275682
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41322541
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39845477
97Endocytosis_Homo sapiens_hsa041440.38995156
98Renal cell carcinoma_Homo sapiens_hsa052110.38971062
99Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38910277
100Hedgehog signaling pathway_Homo sapiens_hsa043400.38058897
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.37626847
102Prion diseases_Homo sapiens_hsa050200.36804879
103Fatty acid biosynthesis_Homo sapiens_hsa000610.35632670
104Insulin signaling pathway_Homo sapiens_hsa049100.34790967
105Non-small cell lung cancer_Homo sapiens_hsa052230.34459307
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33733126
107Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33250528
108Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33018740
109Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.31300302
110Type I diabetes mellitus_Homo sapiens_hsa049400.31220922
111alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31008186
112AMPK signaling pathway_Homo sapiens_hsa041520.30867418
113SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30756054
114Ovarian steroidogenesis_Homo sapiens_hsa049130.30422998
115Linoleic acid metabolism_Homo sapiens_hsa005910.30402290
116Colorectal cancer_Homo sapiens_hsa052100.29203229
117Basal cell carcinoma_Homo sapiens_hsa052170.26762832
118Alzheimers disease_Homo sapiens_hsa050100.26035698
119Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26009835
120Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25714809
121Chemokine signaling pathway_Homo sapiens_hsa040620.24992845
122Tight junction_Homo sapiens_hsa045300.21814152
123Huntingtons disease_Homo sapiens_hsa050160.21211730

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