STXBP5L

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 similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.56559686
2ionotropic glutamate receptor signaling pathway (GO:0035235)5.39586789
3glutamate secretion (GO:0014047)5.30330128
4synaptic transmission, glutamatergic (GO:0035249)5.05479573
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.05065113
6glutamate receptor signaling pathway (GO:0007215)5.03238009
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.92383207
8neurotransmitter-gated ion channel clustering (GO:0072578)4.75731240
9vocalization behavior (GO:0071625)4.72642157
10synaptic vesicle docking involved in exocytosis (GO:0016081)4.71985183
11regulation of synaptic vesicle exocytosis (GO:2000300)4.71972764
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.71775264
13neuron cell-cell adhesion (GO:0007158)4.71241824
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.67642009
15neuron-neuron synaptic transmission (GO:0007270)4.65680612
16synaptic vesicle exocytosis (GO:0016079)4.60731228
17protein localization to synapse (GO:0035418)4.55009434
18neuronal action potential propagation (GO:0019227)4.53330946
19regulation of glutamate receptor signaling pathway (GO:1900449)4.51214569
20presynaptic membrane assembly (GO:0097105)4.40762826
21G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.36556621
22regulation of synaptic vesicle transport (GO:1902803)4.34621629
23negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.30055861
24locomotory exploration behavior (GO:0035641)4.12607295
25gamma-aminobutyric acid signaling pathway (GO:0007214)4.12280427
26sodium ion export (GO:0071436)4.10838780
27regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.08677576
28presynaptic membrane organization (GO:0097090)4.00439895
29regulation of excitatory postsynaptic membrane potential (GO:0060079)3.96343566
30regulation of synaptic transmission, glutamatergic (GO:0051966)3.88938346
31cerebellar Purkinje cell differentiation (GO:0021702)3.87318917
32proline transport (GO:0015824)3.85561557
33L-amino acid import (GO:0043092)3.85016351
34neurotransmitter secretion (GO:0007269)3.84197753
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.83628998
36cerebellar granule cell differentiation (GO:0021707)3.82035530
37regulation of postsynaptic membrane potential (GO:0060078)3.81467978
38synaptic vesicle maturation (GO:0016188)3.80185917
39neuronal ion channel clustering (GO:0045161)3.78124368
40postsynaptic membrane organization (GO:0001941)3.78003523
41positive regulation of synapse maturation (GO:0090129)3.75388800
42neuron recognition (GO:0008038)3.72031393
43long-term synaptic potentiation (GO:0060291)3.70973459
44membrane depolarization during action potential (GO:0086010)3.70911114
45regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.69797480
46regulation of neuronal synaptic plasticity (GO:0048168)3.66486671
47synaptic vesicle endocytosis (GO:0048488)3.65781299
48potassium ion homeostasis (GO:0055075)3.65652337
49regulation of long-term neuronal synaptic plasticity (GO:0048169)3.63927709
50long-term memory (GO:0007616)3.60345596
51behavioral fear response (GO:0001662)3.57228556
52behavioral defense response (GO:0002209)3.57228556
53auditory behavior (GO:0031223)3.55609623
54positive regulation of membrane potential (GO:0045838)3.48899285
55startle response (GO:0001964)3.48822221
56negative regulation of synaptic transmission, GABAergic (GO:0032229)3.48364009
57fear response (GO:0042596)3.45065340
58membrane depolarization (GO:0051899)3.38634749
59potassium ion import (GO:0010107)3.37252230
60regulation of synaptic plasticity (GO:0048167)3.36989297
61regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.35965591
62gamma-aminobutyric acid transport (GO:0015812)3.34194991
63response to pheromone (GO:0019236)3.33935352
64neurotransmitter uptake (GO:0001504)3.31477859
65detection of calcium ion (GO:0005513)3.30910366
66exploration behavior (GO:0035640)3.30790524
67regulation of neurotransmitter secretion (GO:0046928)3.29876355
68amino acid import (GO:0043090)3.29599954
69regulation of synapse maturation (GO:0090128)3.29251352
70innervation (GO:0060384)3.27446720
71neurotransmitter transport (GO:0006836)3.23815971
72response to histamine (GO:0034776)3.22756037
73regulation of ARF protein signal transduction (GO:0032012)3.21186760
74negative regulation of dendrite morphogenesis (GO:0050774)3.21038998
75regulation of respiratory system process (GO:0044065)3.20442162
76regulation of voltage-gated calcium channel activity (GO:1901385)3.18107492
77calcium ion import (GO:0070509)3.17489055
78serotonin metabolic process (GO:0042428)3.15939749
79cochlea development (GO:0090102)3.14924860
80C4-dicarboxylate transport (GO:0015740)3.14686666
81response to auditory stimulus (GO:0010996)3.14475217
82acidic amino acid transport (GO:0015800)3.11312517
83positive regulation of neurotransmitter secretion (GO:0001956)3.09762261
84transmission of nerve impulse (GO:0019226)3.09525190
85suckling behavior (GO:0001967)3.08805077
86layer formation in cerebral cortex (GO:0021819)3.07296496
87membrane hyperpolarization (GO:0060081)3.06583499
88positive regulation of dendritic spine development (GO:0060999)3.05731026
89positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.05426792
90cellular sodium ion homeostasis (GO:0006883)3.05234838
91axon ensheathment in central nervous system (GO:0032291)3.03449028
92central nervous system myelination (GO:0022010)3.03449028
93regulation of dendritic spine morphogenesis (GO:0061001)3.02361068
94regulation of vesicle fusion (GO:0031338)3.02210508
95synaptic transmission (GO:0007268)3.01759595
96cell communication by electrical coupling (GO:0010644)3.00868181
97neuromuscular synaptic transmission (GO:0007274)3.00286126
98axonal fasciculation (GO:0007413)3.00282681
99mechanosensory behavior (GO:0007638)3.00281488
100regulation of synapse structural plasticity (GO:0051823)2.99363951
101negative regulation of cytosolic calcium ion concentration (GO:0051481)2.99156455
102calcium ion-dependent exocytosis (GO:0017156)2.96937448
103regulation of neurotransmitter transport (GO:0051588)2.95792889
104primary amino compound metabolic process (GO:1901160)2.95484747
105regulation of synaptic transmission (GO:0050804)2.94313029
106synaptic vesicle transport (GO:0048489)2.93413194
107establishment of synaptic vesicle localization (GO:0097480)2.93413194
108positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.93234426
109learning (GO:0007612)2.91833537
110negative regulation of dendrite development (GO:2000171)2.91074876
111cell differentiation in hindbrain (GO:0021533)2.91055616
112cellular potassium ion homeostasis (GO:0030007)2.90387705
113positive regulation of synaptic transmission (GO:0050806)2.87532420
114regulation of neurotransmitter levels (GO:0001505)2.86052271
115chemosensory behavior (GO:0007635)2.84466934
116positive regulation of neurotransmitter transport (GO:0051590)2.83940628
117long term synaptic depression (GO:0060292)2.83334972
118regulation of respiratory gaseous exchange (GO:0043576)2.83252962
119cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.82786087
120righting reflex (GO:0060013)2.81215670
121synapse assembly (GO:0007416)2.79948888
122positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.78800176
123striatum development (GO:0021756)2.78732831
124adult walking behavior (GO:0007628)2.78534196
125positive regulation of synaptic transmission, GABAergic (GO:0032230)2.76666205
126dendritic spine morphogenesis (GO:0060997)2.74010804
127regulation of synaptic transmission, GABAergic (GO:0032228)2.73147331
128regulation of synapse assembly (GO:0051963)2.71784347
129positive regulation of dendritic spine morphogenesis (GO:0061003)2.71661397
130urinary tract smooth muscle contraction (GO:0014848)2.70947743

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.27977239
2GBX2_23144817_ChIP-Seq_PC3_Human4.64023385
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.72385661
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.52234577
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.52232243
6TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.46555044
7REST_21632747_ChIP-Seq_MESCs_Mouse2.40434757
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.36302587
9TAF15_26573619_Chip-Seq_HEK293_Human2.32827375
10ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.29783456
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.24544251
12PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.23759008
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.21016092
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.20917372
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.18226298
16CTBP2_25329375_ChIP-Seq_LNCAP_Human2.15574483
17DROSHA_22980978_ChIP-Seq_HELA_Human2.14614173
18* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.13938686
19JARID2_20075857_ChIP-Seq_MESCs_Mouse2.10890305
20* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.10719794
21EZH2_18974828_ChIP-Seq_MESCs_Mouse2.09879988
22RNF2_18974828_ChIP-Seq_MESCs_Mouse2.09879988
23MTF2_20144788_ChIP-Seq_MESCs_Mouse2.06797886
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.05975021
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.01599251
26SMAD4_21799915_ChIP-Seq_A2780_Human2.00817535
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.98458168
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.96766989
29RARB_27405468_Chip-Seq_BRAIN_Mouse1.94243180
30REST_18959480_ChIP-ChIP_MESCs_Mouse1.90615598
31* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.88828330
32* EZH2_27294783_Chip-Seq_ESCs_Mouse1.85969082
33CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.81728436
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.81344528
35* P300_19829295_ChIP-Seq_ESCs_Human1.78790452
36RNF2_27304074_Chip-Seq_ESCs_Mouse1.77663733
37SUZ12_27294783_Chip-Seq_ESCs_Mouse1.72594206
38FUS_26573619_Chip-Seq_HEK293_Human1.65660948
39PIAS1_25552417_ChIP-Seq_VCAP_Human1.63023611
40* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.59871775
41* STAT3_23295773_ChIP-Seq_U87_Human1.57815736
42NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.56176599
43IKZF1_21737484_ChIP-ChIP_HCT116_Human1.55720921
44IGF1R_20145208_ChIP-Seq_DFB_Human1.53623238
45SMAD_19615063_ChIP-ChIP_OVARY_Human1.52816921
46ZNF274_21170338_ChIP-Seq_K562_Hela1.50396141
47* SMAD3_21741376_ChIP-Seq_EPCs_Human1.48890887
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.48169518
49AR_25329375_ChIP-Seq_VCAP_Human1.46460659
50HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.43404381
51VDR_22108803_ChIP-Seq_LS180_Human1.42811307
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.41569537
53RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.39976759
54* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.39780650
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.39485257
56* TCF4_23295773_ChIP-Seq_U87_Human1.39476525
57AR_21572438_ChIP-Seq_LNCaP_Human1.39311249
58CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37876085
59* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36518524
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.35557343
61TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.33974035
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.33634888
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33587102
64* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33523749
65FLI1_27457419_Chip-Seq_LIVER_Mouse1.32804160
66* RNF2_27304074_Chip-Seq_NSC_Mouse1.32461421
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.28592857
68TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26357582
69E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.26034302
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.25469452
71ZNF217_24962896_ChIP-Seq_MCF-7_Human1.25418915
72SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24046630
73PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.21075601
74EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.19493711
75PCGF2_27294783_Chip-Seq_ESCs_Mouse1.19163021
76RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18351298
77ER_23166858_ChIP-Seq_MCF-7_Human1.17527572
78E2F1_18555785_Chip-Seq_ESCs_Mouse1.17392122
79AR_19668381_ChIP-Seq_PC3_Human1.16975243
80MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16422623
81P53_22387025_ChIP-Seq_ESCs_Mouse1.16171596
82EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.14299019
83* RUNX2_22187159_ChIP-Seq_PCA_Human1.13758026
84TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.13189144
85P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12845524
86LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12444130
87SOX9_26525672_Chip-Seq_HEART_Mouse1.12217369
88YAP1_20516196_ChIP-Seq_MESCs_Mouse1.11916527
89BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.10670685
90CMYC_18555785_Chip-Seq_ESCs_Mouse1.10130638
91AHR_22903824_ChIP-Seq_MCF-7_Human1.10106062
92CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08515794
93UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08388923
94RING1B_27294783_Chip-Seq_ESCs_Mouse1.07216091
95JUN_21703547_ChIP-Seq_K562_Human1.07171515
96NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05301221
97VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.04582845
98MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04190153
99MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.04079769
100* PRDM14_20953172_ChIP-Seq_ESCs_Human1.03584706
101EWS_26573619_Chip-Seq_HEK293_Human1.02950579
102BCAT_22108803_ChIP-Seq_LS180_Human1.02938983
103KDM2B_26808549_Chip-Seq_REH_Human1.02263844
104SUZ12_27294783_Chip-Seq_NPCs_Mouse1.02127146
105SUZ12_18555785_Chip-Seq_ESCs_Mouse1.00246323
106WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00148012
107POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00084925
108TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00084925
109* TAL1_26923725_Chip-Seq_HPCs_Mouse0.99426141
110FLI1_21867929_ChIP-Seq_TH2_Mouse0.99370728
111RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.98231594
112TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.97964755
113MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97883892
114STAT3_18555785_Chip-Seq_ESCs_Mouse0.97434049
115FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.97379134
116* SMAD3_21741376_ChIP-Seq_ESCs_Human0.97330247
117SOX2_18555785_Chip-Seq_ESCs_Mouse0.96784496
118EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.96565760

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.59413649
2MP0003880_abnormal_central_pattern4.76088666
3MP0003635_abnormal_synaptic_transmissio3.72687368
4MP0009745_abnormal_behavioral_response3.23447954
5MP0004270_analgesia3.12427554
6MP0002063_abnormal_learning/memory/cond3.09436630
7MP0001968_abnormal_touch/_nociception3.01222976
8MP0002064_seizures2.96612158
9MP0002572_abnormal_emotion/affect_behav2.88679124
10MP0009046_muscle_twitch2.82627121
11MP0002736_abnormal_nociception_after2.77167210
12MP0002735_abnormal_chemical_nociception2.75162670
13MP0002272_abnormal_nervous_system2.66291360
14MP0001501_abnormal_sleep_pattern2.51942805
15MP0002734_abnormal_mechanical_nocicepti2.33320539
16MP0002822_catalepsy2.29001967
17MP0001486_abnormal_startle_reflex2.22971504
18MP0002067_abnormal_sensory_capabilities2.18017915
19MP0003787_abnormal_imprinting2.16252566
20MP0001188_hyperpigmentation2.08985496
21MP0001440_abnormal_grooming_behavior2.01970092
22MP0005646_abnormal_pituitary_gland2.01636417
23MP0008877_abnormal_DNA_methylation1.95648588
24MP0001984_abnormal_olfaction1.94127003
25MP0005645_abnormal_hypothalamus_physiol1.91293394
26MP0005423_abnormal_somatic_nervous1.90135715
27MP0010386_abnormal_urinary_bladder1.90021925
28MP0003879_abnormal_hair_cell1.88644991
29MP0009780_abnormal_chondrocyte_physiolo1.85850185
30MP0002184_abnormal_innervation1.83260948
31MP0000013_abnormal_adipose_tissue1.82750300
32MP0002557_abnormal_social/conspecific_i1.74270890
33MP0001970_abnormal_pain_threshold1.72811508
34MP0002733_abnormal_thermal_nociception1.66308232
35MP0004924_abnormal_behavior1.65221573
36MP0005386_behavior/neurological_phenoty1.65221573
37MP0003183_abnormal_peptide_metabolism1.64985896
38MP0008569_lethality_at_weaning1.62331250
39MP0000778_abnormal_nervous_system1.62105916
40MP0006276_abnormal_autonomic_nervous1.60027227
41MP0006292_abnormal_olfactory_placode1.59627624
42MP0003122_maternal_imprinting1.55099595
43MP0002909_abnormal_adrenal_gland1.53282369
44MP0000955_abnormal_spinal_cord1.48603297
45MP0001502_abnormal_circadian_rhythm1.42252461
46MP0004811_abnormal_neuron_physiology1.41630873
47MP0002882_abnormal_neuron_morphology1.33047272
48MP0005551_abnormal_eye_electrophysiolog1.31644072
49MP0002066_abnormal_motor_capabilities/c1.28719967
50MP0004147_increased_porphyrin_level1.27718980
51MP0002837_dystrophic_cardiac_calcinosis1.24032631
52MP0002876_abnormal_thyroid_physiology1.24019008
53MP0003690_abnormal_glial_cell1.23480906
54MP0004142_abnormal_muscle_tone1.22694403
55MP0003329_amyloid_beta_deposits1.22158261
56MP0005171_absent_coat_pigmentation1.17676433
57MP0004145_abnormal_muscle_electrophysio1.17207696
58MP0001905_abnormal_dopamine_level1.15896055
59MP0001529_abnormal_vocalization1.13919107
60MP0004885_abnormal_endolymph1.11960416
61MP0004043_abnormal_pH_regulation1.11808983
62MP0003633_abnormal_nervous_system1.10689793
63MP0004742_abnormal_vestibular_system1.09120644
64MP0002638_abnormal_pupillary_reflex1.08965131
65MP0003283_abnormal_digestive_organ1.05242137
66MP0000516_abnormal_urinary_system1.02357872
67MP0005367_renal/urinary_system_phenotyp1.02357872
68MP0002229_neurodegeneration1.02306712
69MP0006072_abnormal_retinal_apoptosis1.01906253
70MP0000631_abnormal_neuroendocrine_gland1.01519798
71MP0000920_abnormal_myelination0.98150698
72MP0002152_abnormal_brain_morphology0.95402581
73MP0004085_abnormal_heartbeat0.95190068
74MP0002069_abnormal_eating/drinking_beha0.93767764
75MP0005394_taste/olfaction_phenotype0.92742608
76MP0005499_abnormal_olfactory_system0.92742608
77MP0004858_abnormal_nervous_system0.92582208
78MP0001963_abnormal_hearing_physiology0.92338738
79MP0001485_abnormal_pinna_reflex0.92286772
80MP0003631_nervous_system_phenotype0.91512202
81MP0002090_abnormal_vision0.85834687
82MP0002653_abnormal_ependyma_morphology0.85576733
83MP0003121_genomic_imprinting0.84408631
84MP0005187_abnormal_penis_morphology0.83760563
85MP0002752_abnormal_somatic_nervous0.81646168
86MP0005623_abnormal_meninges_morphology0.78125296
87MP0000015_abnormal_ear_pigmentation0.75466086
88MP0000569_abnormal_digit_pigmentation0.75188512
89MP0008872_abnormal_physiological_respon0.72794207
90MP0008874_decreased_physiological_sensi0.71938259
91MP0001664_abnormal_digestion0.70757415
92MP0003123_paternal_imprinting0.69944925
93MP0004215_abnormal_myocardial_fiber0.69884242
94MP0001299_abnormal_eye_distance/0.69016549
95MP0005253_abnormal_eye_physiology0.68066263
96MP0003137_abnormal_impulse_conducting0.66303797
97MP0003861_abnormal_nervous_system0.65543542
98MP0004133_heterotaxia0.65260876
99MP0005535_abnormal_body_temperature0.64578321
100MP0003634_abnormal_glial_cell0.64487603
101MP0002102_abnormal_ear_morphology0.63886774
102MP0003632_abnormal_nervous_system0.62949587
103MP0001177_atelectasis0.61504337
104MP0010769_abnormal_survival0.61416423
105MP0000026_abnormal_inner_ear0.61058622
106MP0002693_abnormal_pancreas_physiology0.60965380
107MP0001944_abnormal_pancreas_morphology0.59910664
108MP0001765_abnormal_ion_homeostasis0.59495142
109MP0010768_mortality/aging0.58781506
110MP0002751_abnormal_autonomic_nervous0.58213479
111MP0003890_abnormal_embryonic-extraembry0.57795559
112MP0005379_endocrine/exocrine_gland_phen0.57504310
113MP0002082_postnatal_lethality0.56043799
114MP0010770_preweaning_lethality0.56043799
115MP0001943_abnormal_respiration0.54134699
116MP0001986_abnormal_taste_sensitivity0.53347686

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.00406380
2Epileptic encephalopathy (HP:0200134)5.72757319
3Febrile seizures (HP:0002373)5.27505787
4Atonic seizures (HP:0010819)5.00598014
5Focal seizures (HP:0007359)4.97032666
6Hyperventilation (HP:0002883)4.38850981
7Progressive cerebellar ataxia (HP:0002073)4.14861979
8Myokymia (HP:0002411)4.12647717
9Absence seizures (HP:0002121)3.98077530
10Visual hallucinations (HP:0002367)3.97306018
11Dialeptic seizures (HP:0011146)3.77539368
12Generalized tonic-clonic seizures (HP:0002069)3.59155381
13Broad-based gait (HP:0002136)3.54676708
14Gaze-evoked nystagmus (HP:0000640)3.49256514
15Poor eye contact (HP:0000817)3.28192401
16Epileptiform EEG discharges (HP:0011182)3.22425281
17Ankle clonus (HP:0011448)3.17435247
18Drooling (HP:0002307)3.10856878
19Excessive salivation (HP:0003781)3.10856878
20Spastic gait (HP:0002064)3.06995674
21Limb dystonia (HP:0002451)3.06052283
22Amblyopia (HP:0000646)2.90525669
23EEG with generalized epileptiform discharges (HP:0011198)2.89826730
24Absent speech (HP:0001344)2.86012839
25Abnormality of the corticospinal tract (HP:0002492)2.85974177
26Genetic anticipation (HP:0003743)2.85415431
27Protruding tongue (HP:0010808)2.82850355
28Abnormal social behavior (HP:0012433)2.75266187
29Impaired social interactions (HP:0000735)2.75266187
30Blue irides (HP:0000635)2.74380556
31Scanning speech (HP:0002168)2.72465163
32Type II lissencephaly (HP:0007260)2.71915474
33Truncal ataxia (HP:0002078)2.71212726
34Gait imbalance (HP:0002141)2.66233620
35Impaired smooth pursuit (HP:0007772)2.64496107
36Hypsarrhythmia (HP:0002521)2.61710937
37Medial flaring of the eyebrow (HP:0010747)2.61611446
38Urinary urgency (HP:0000012)2.58850281
39Papilledema (HP:0001085)2.54070558
40Dysdiadochokinesis (HP:0002075)2.52207507
41Action tremor (HP:0002345)2.49226323
42Congenital primary aphakia (HP:0007707)2.48061453
43Hypoventilation (HP:0002791)2.46918699
44Intention tremor (HP:0002080)2.46797253
45Hemiplegia (HP:0002301)2.46372296
46Nephrogenic diabetes insipidus (HP:0009806)2.45397046
47Degeneration of the lateral corticospinal tracts (HP:0002314)2.42448804
48Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.42448804
49Sleep apnea (HP:0010535)2.40703102
50Cerebral hypomyelination (HP:0006808)2.35631762
51Mutism (HP:0002300)2.34271702
52Generalized hypopigmentation of hair (HP:0011358)2.32386176
53Decreased circulating renin level (HP:0003351)2.28617787
54Dysmetria (HP:0001310)2.27692735
55Fair hair (HP:0002286)2.27073938
56Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.24530406
57Depression (HP:0000716)2.23593093
58Abnormal eating behavior (HP:0100738)2.23573155
59Dysmetric saccades (HP:0000641)2.21529672
60Hemiparesis (HP:0001269)2.19629348
61Torticollis (HP:0000473)2.18562337
62Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.18454293
63Spastic tetraplegia (HP:0002510)2.18439763
64Morphological abnormality of the pyramidal tract (HP:0002062)2.17281062
65Impaired vibration sensation in the lower limbs (HP:0002166)2.16904247
66Lower limb muscle weakness (HP:0007340)2.15470457
67Neurofibrillary tangles (HP:0002185)2.15013905
68Supranuclear gaze palsy (HP:0000605)2.12586970
69Agitation (HP:0000713)2.12276123
70Tetraplegia (HP:0002445)2.12113959
71Abnormality of ocular smooth pursuit (HP:0000617)2.12062902
72Anxiety (HP:0000739)2.10593609
73Abnormality of salivation (HP:0100755)2.09169781
74Postural instability (HP:0002172)2.07505404
75Abnormal hair whorl (HP:0010721)2.05802070
76Akinesia (HP:0002304)2.00680465
77Amyotrophic lateral sclerosis (HP:0007354)2.00576638
78Hypoglycemic seizures (HP:0002173)1.98922899
79Hyperinsulinemic hypoglycemia (HP:0000825)1.98510053
80Nonprogressive disorder (HP:0003680)1.98204735
81Widely spaced teeth (HP:0000687)1.97712450
82Stereotypic behavior (HP:0000733)1.96966566
83Clonus (HP:0002169)1.96901271
84Poor coordination (HP:0002370)1.94487994
85Fetal akinesia sequence (HP:0001989)1.94175255
86Thickened helices (HP:0000391)1.90860358
87Obstructive sleep apnea (HP:0002870)1.90495405
88Gastroesophageal reflux (HP:0002020)1.89862070
89Urinary bladder sphincter dysfunction (HP:0002839)1.89291772
90CNS hypomyelination (HP:0003429)1.88887398
91Calf muscle hypertrophy (HP:0008981)1.88484213
92Genital tract atresia (HP:0001827)1.87379715
93Pancreatic fibrosis (HP:0100732)1.85952973
94Muscular hypotonia of the trunk (HP:0008936)1.85949687
95Aplasia/Hypoplasia of the lens (HP:0008063)1.84873941
96Abnormality of the labia minora (HP:0012880)1.83828545
97Vaginal atresia (HP:0000148)1.83671410
98Inability to walk (HP:0002540)1.83439988
99Abnormality of calcium-phosphate metabolism (HP:0100530)1.82048281
100Muscle hypertrophy of the lower extremities (HP:0008968)1.81883747
101Abnormality of midbrain morphology (HP:0002418)1.81024148
102Molar tooth sign on MRI (HP:0002419)1.81024148
103Labial hypoplasia (HP:0000066)1.80278143
104Osteomalacia (HP:0002749)1.79980825
105Bradykinesia (HP:0002067)1.79650727
106Delusions (HP:0000746)1.78983960
107Hepatoblastoma (HP:0002884)1.77979987
108Hypothermia (HP:0002045)1.76286298
109Polyphagia (HP:0002591)1.75816957
110Focal dystonia (HP:0004373)1.75274757
111Gait ataxia (HP:0002066)1.74905001
112Paraplegia (HP:0010550)1.74609156
113Status epilepticus (HP:0002133)1.74519274
114Nephronophthisis (HP:0000090)1.74125614
115Diplopia (HP:0000651)1.73393601
116Abnormality of binocular vision (HP:0011514)1.73393601
117Spastic tetraparesis (HP:0001285)1.72409324
118Open mouth (HP:0000194)1.71944473
119Bradycardia (HP:0001662)1.71797050
120Pheochromocytoma (HP:0002666)1.71711893
121Retinal dysplasia (HP:0007973)1.71376193
122Abnormality of the lower motor neuron (HP:0002366)1.71076107
123Shoulder girdle muscle weakness (HP:0003547)1.70958387
124Syncope (HP:0001279)1.70571531
125Absent eyebrow (HP:0002223)1.69981050
126Aplasia/Hypoplasia of the fovea (HP:0008060)1.67975491
127Hypoplasia of the fovea (HP:0007750)1.67975491
128Cerebral inclusion bodies (HP:0100314)1.67772507
129Failure to thrive in infancy (HP:0001531)1.66959764
130Impaired vibratory sensation (HP:0002495)1.66755131
131Specific learning disability (HP:0001328)1.66553895
132Hypoplastic female external genitalia (HP:0012815)1.66025315
133Increased circulating renin level (HP:0000848)1.63969925
134Neuronal loss in central nervous system (HP:0002529)1.63625354
135Chronic hepatic failure (HP:0100626)1.63621239
136Hypoglycemic coma (HP:0001325)1.61959480
137Generalized myoclonic seizures (HP:0002123)1.60543524
138Abnormal drinking behavior (HP:0030082)1.59775490
139Aplasia/Hypoplasia of the brainstem (HP:0007362)1.58995875

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.37598409
2CASK4.25649753
3EPHA43.87447753
4MAP2K72.86981878
5MAP3K42.86172913
6AKT32.77316575
7TNIK2.36752130
8PRPF4B2.26444779
9DAPK22.21285985
10MAP3K92.03256644
11MARK11.92211803
12MINK11.91435450
13WNK31.89987688
14MAPK131.80645689
15PRKD31.79868052
16PLK21.75361129
17MAP3K121.71852072
18CAMKK21.66611184
19NTRK21.66239377
20MAP2K41.62300133
21SGK21.61575508
22CDK191.60877156
23DAPK11.60843709
24INSRR1.50342984
25RIPK41.48344914
26PHKG21.45605615
27PHKG11.45605615
28SGK2231.38117543
29SGK4941.38117543
30BMPR21.34895059
31CAMK1G1.32143118
32PAK61.29910064
33SIK31.28343143
34STK381.26306708
35KSR11.23666780
36BRAF1.17248002
37CDK51.16218083
38PRKCG1.14827487
39STK161.10681917
40CAMK2A1.10670985
41OXSR11.08379135
42MAP3K21.06486620
43CAMKK11.04840131
44CAMK2B1.01823817
45GRK51.01405508
46CAMK1D0.97164884
47SGK30.97032585
48CDK30.96869484
49FGFR20.92283235
50SGK10.91523443
51ARAF0.91409790
52FES0.88532807
53MAP3K130.83481477
54STK390.83187625
55NTRK10.82961380
56LATS20.82074973
57CAMK10.81591652
58BRD40.80703504
59DYRK1A0.79490960
60UHMK10.77325863
61KSR20.77313981
62PRKCH0.76738510
63PRKCE0.76628978
64PTK2B0.75102527
65CSNK1A1L0.73697532
66CCNB10.71139787
67CDC42BPA0.70150486
68YES10.68990283
69NME10.68524717
70PINK10.67772986
71CAMK2D0.66897850
72MUSK0.65777503
73NEK60.64128691
74DYRK20.63371815
75CSNK1G10.63076276
76GRK10.60947267
77BMPR1B0.60361410
78CSNK1G30.60072036
79SIK20.59874234
80MAPK100.59424507
81ALK0.59046379
82ADRBK20.58768751
83PRKCZ0.58162104
84FER0.57543833
85MARK20.56692478
86BCR0.53989261
87CDK180.53907370
88WNK10.52711329
89FRK0.51646010
90MAP2K10.50857565
91PKN10.50643279
92MAPK150.50630397
93PAK30.50513319
94ERBB30.48599025
95TYRO30.47389585
96PIK3CG0.47224267
97CDK150.46653387
98CSNK1E0.46136184
99CAMK40.46124871
100RPS6KA30.45013535
101CAMK2G0.44015968
102PNCK0.43364735
103STK110.43142367
104CDK140.42682796
105RET0.42589275
106RAF10.42102656
107PRKG10.41972629
108CSNK1G20.41687071
109CSNK1D0.40723653
110STK38L0.40651227
111ACVR1B0.40396968
112WNK40.39198346
113CDK11A0.38990936
114PRKCB0.38721173
115MAP3K60.38312821
116PRKAA10.38259714
117PRKACA0.37817480
118ERBB40.36709716
119PDK10.36641850
120CSNK1A10.36422525
121TNK20.36024364
122PRKD20.35680192
123PRKCA0.35656928
124BRSK10.35421453
125RIPK10.31016534
126GSK3B0.31016123

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.54065057
2Synaptic vesicle cycle_Homo sapiens_hsa047213.36341795
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.07521649
4Circadian entrainment_Homo sapiens_hsa047132.92516721
5Glutamatergic synapse_Homo sapiens_hsa047242.87140058
6GABAergic synapse_Homo sapiens_hsa047272.84353859
7Long-term potentiation_Homo sapiens_hsa047202.84028845
8Morphine addiction_Homo sapiens_hsa050322.72189492
9Amphetamine addiction_Homo sapiens_hsa050312.70826362
10Olfactory transduction_Homo sapiens_hsa047402.52241406
11Insulin secretion_Homo sapiens_hsa049112.50384634
12Taste transduction_Homo sapiens_hsa047422.31590231
13Dopaminergic synapse_Homo sapiens_hsa047282.18125158
14Collecting duct acid secretion_Homo sapiens_hsa049662.14028826
15Salivary secretion_Homo sapiens_hsa049701.98025930
16Serotonergic synapse_Homo sapiens_hsa047261.91835843
17Long-term depression_Homo sapiens_hsa047301.90662593
18Cocaine addiction_Homo sapiens_hsa050301.86368151
19Vibrio cholerae infection_Homo sapiens_hsa051101.73720438
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.73329844
21Cholinergic synapse_Homo sapiens_hsa047251.71102541
22Renin secretion_Homo sapiens_hsa049241.66218370
23Calcium signaling pathway_Homo sapiens_hsa040201.62190110
24Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.58684281
25Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.51885486
26Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.48602222
27Gastric acid secretion_Homo sapiens_hsa049711.48438682
28Oxytocin signaling pathway_Homo sapiens_hsa049211.44354034
29cAMP signaling pathway_Homo sapiens_hsa040241.35674992
30Type II diabetes mellitus_Homo sapiens_hsa049301.33914613
31Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.29025040
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.23557648
33Phototransduction_Homo sapiens_hsa047441.21683034
34Circadian rhythm_Homo sapiens_hsa047101.21619399
35Vitamin B6 metabolism_Homo sapiens_hsa007501.20638331
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.20548209
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.19718122
38GnRH signaling pathway_Homo sapiens_hsa049121.12941883
39Maturity onset diabetes of the young_Homo sapiens_hsa049501.08698616
40Axon guidance_Homo sapiens_hsa043601.04799263
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04687721
42Butanoate metabolism_Homo sapiens_hsa006501.03466631
43Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.02053457
44Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.99669362
45Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.99256196
46Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.98987067
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.97233181
48Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.91628432
49Gap junction_Homo sapiens_hsa045400.90490788
50Fatty acid biosynthesis_Homo sapiens_hsa000610.89215977
51Pancreatic secretion_Homo sapiens_hsa049720.88976373
52ErbB signaling pathway_Homo sapiens_hsa040120.88919860
53Estrogen signaling pathway_Homo sapiens_hsa049150.86013986
54SNARE interactions in vesicular transport_Homo sapiens_hsa041300.83030264
55Protein export_Homo sapiens_hsa030600.81231663
56Bile secretion_Homo sapiens_hsa049760.79245739
57Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77422839
58Type I diabetes mellitus_Homo sapiens_hsa049400.76188756
59Melanogenesis_Homo sapiens_hsa049160.72422048
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.70422499
61Cardiac muscle contraction_Homo sapiens_hsa042600.69292793
62Inositol phosphate metabolism_Homo sapiens_hsa005620.69276724
63Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.67339194
64MAPK signaling pathway_Homo sapiens_hsa040100.67070883
65Propanoate metabolism_Homo sapiens_hsa006400.64902723
66Glioma_Homo sapiens_hsa052140.64679675
67Thyroid hormone synthesis_Homo sapiens_hsa049180.64394549
68Glucagon signaling pathway_Homo sapiens_hsa049220.63695882
69Oocyte meiosis_Homo sapiens_hsa041140.62930553
70Regulation of autophagy_Homo sapiens_hsa041400.61799913
71Dilated cardiomyopathy_Homo sapiens_hsa054140.60187791
72Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.59526538
73Arginine and proline metabolism_Homo sapiens_hsa003300.54504959
74Mineral absorption_Homo sapiens_hsa049780.53559779
75Choline metabolism in cancer_Homo sapiens_hsa052310.53226168
76Ras signaling pathway_Homo sapiens_hsa040140.52730787
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.52322062
78Dorso-ventral axis formation_Homo sapiens_hsa043200.52308150
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51125337
80Ovarian steroidogenesis_Homo sapiens_hsa049130.49729672
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.49603538
82Arginine biosynthesis_Homo sapiens_hsa002200.49004174
83Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.48971935
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46473120
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46137037
86Rheumatoid arthritis_Homo sapiens_hsa053230.46020923
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42316776
88Histidine metabolism_Homo sapiens_hsa003400.41483968
89beta-Alanine metabolism_Homo sapiens_hsa004100.40891225
90Alcoholism_Homo sapiens_hsa050340.39424533
91Phagosome_Homo sapiens_hsa041450.35652202
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.35221118
93Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.34521778
94Fatty acid metabolism_Homo sapiens_hsa012120.34212933
95Wnt signaling pathway_Homo sapiens_hsa043100.34192437
96Alzheimers disease_Homo sapiens_hsa050100.33831007
97Rap1 signaling pathway_Homo sapiens_hsa040150.33815110
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.32977337
99ABC transporters_Homo sapiens_hsa020100.30758709
100AMPK signaling pathway_Homo sapiens_hsa041520.30528891
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30427532
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29166031
103Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.28955221
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28483072
105Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.26886908
106Oxidative phosphorylation_Homo sapiens_hsa001900.26481526
107Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.24986976
108Hippo signaling pathway_Homo sapiens_hsa043900.24918352
109Endometrial cancer_Homo sapiens_hsa052130.23769705
110Neurotrophin signaling pathway_Homo sapiens_hsa047220.23465688
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.22935559
112mTOR signaling pathway_Homo sapiens_hsa041500.21997833
113Melanoma_Homo sapiens_hsa052180.21814772
114Prion diseases_Homo sapiens_hsa050200.21571864
115Insulin signaling pathway_Homo sapiens_hsa049100.21526038
116Sphingolipid metabolism_Homo sapiens_hsa006000.20380560
117Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.19066789
118African trypanosomiasis_Homo sapiens_hsa051430.18848330
119Ether lipid metabolism_Homo sapiens_hsa005650.18455717

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