SHANK1

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 SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.08016846
2* vocalization behavior (GO:0071625)5.72790832
3* positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.68395622
4* regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.51860689
5ionotropic glutamate receptor signaling pathway (GO:0035235)5.50086757
6locomotory exploration behavior (GO:0035641)5.48832684
7synaptic vesicle exocytosis (GO:0016079)5.37088530
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.34280288
9neuron cell-cell adhesion (GO:0007158)5.30139491
10synaptic vesicle maturation (GO:0016188)5.29032232
11glutamate receptor signaling pathway (GO:0007215)5.01378016
12* regulation of glutamate receptor signaling pathway (GO:1900449)5.01188996
13glutamate secretion (GO:0014047)4.94414931
14neuronal action potential propagation (GO:0019227)4.92570826
15sodium ion export (GO:0071436)4.84929670
16* protein localization to synapse (GO:0035418)4.81093654
17regulation of synaptic vesicle exocytosis (GO:2000300)4.71633436
18synaptic transmission, glutamatergic (GO:0035249)4.66342402
19exploration behavior (GO:0035640)4.65694768
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.56244626
21regulation of neuronal synaptic plasticity (GO:0048168)4.45704053
22synaptic vesicle docking involved in exocytosis (GO:0016081)4.39231437
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.38227954
24postsynaptic membrane organization (GO:0001941)4.32870421
25neuron-neuron synaptic transmission (GO:0007270)4.30235314
26regulation of synaptic vesicle transport (GO:1902803)4.23400945
27neurotransmitter secretion (GO:0007269)4.22597090
28neuron recognition (GO:0008038)4.15150154
29layer formation in cerebral cortex (GO:0021819)4.13808999
30cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.13580924
31* regulation of excitatory postsynaptic membrane potential (GO:0060079)4.08016235
32amino acid import (GO:0043090)4.04134841
33neurotransmitter-gated ion channel clustering (GO:0072578)4.00152148
34gamma-aminobutyric acid signaling pathway (GO:0007214)3.98063671
35presynaptic membrane assembly (GO:0097105)3.92495557
36* regulation of postsynaptic membrane potential (GO:0060078)3.88499729
37G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.85670662
38* positive regulation of membrane potential (GO:0045838)3.84341311
39gamma-aminobutyric acid transport (GO:0015812)3.83933678
40regulation of dendritic spine morphogenesis (GO:0061001)3.83661779
41transmission of nerve impulse (GO:0019226)3.81636111
42* long-term memory (GO:0007616)3.78076800
43negative regulation of synaptic transmission, GABAergic (GO:0032229)3.77206333
44regulation of synapse structural plasticity (GO:0051823)3.75896980
45potassium ion import (GO:0010107)3.73187394
46potassium ion homeostasis (GO:0055075)3.72750965
47regulation of voltage-gated calcium channel activity (GO:1901385)3.63969435
48neurotransmitter transport (GO:0006836)3.62140603
49regulation of synaptic plasticity (GO:0048167)3.61821920
50presynaptic membrane organization (GO:0097090)3.61608474
51* dendritic spine morphogenesis (GO:0060997)3.61395182
52axonal fasciculation (GO:0007413)3.61185502
53cell communication by electrical coupling (GO:0010644)3.60977432
54regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.60728697
55synaptic vesicle endocytosis (GO:0048488)3.60631759
56* neuromuscular process controlling balance (GO:0050885)3.59986352
57membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.59605472
58regulation of ARF protein signal transduction (GO:0032012)3.58775004
59proline transport (GO:0015824)3.57215152
60positive regulation of synapse maturation (GO:0090129)3.55692939
61regulation of vesicle fusion (GO:0031338)3.53816767
62positive regulation of dendritic spine morphogenesis (GO:0061003)3.51468032
63positive regulation of neurotransmitter secretion (GO:0001956)3.47499354
64regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.46461415
65regulation of neurotransmitter secretion (GO:0046928)3.44795292
66positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.43249960
67cellular potassium ion homeostasis (GO:0030007)3.43093480
68cerebellar Purkinje cell differentiation (GO:0021702)3.41007067
69negative regulation of dendrite morphogenesis (GO:0050774)3.38740010
70regulation of synaptic transmission, glutamatergic (GO:0051966)3.38018862
71auditory behavior (GO:0031223)3.37895165
72neuromuscular synaptic transmission (GO:0007274)3.37646735
73* membrane depolarization (GO:0051899)3.34741834
74long-term synaptic potentiation (GO:0060291)3.34519426
75central nervous system myelination (GO:0022010)3.32569523
76axon ensheathment in central nervous system (GO:0032291)3.32569523
77behavioral defense response (GO:0002209)3.30898064
78behavioral fear response (GO:0001662)3.30898064
79regulation of neurotransmitter levels (GO:0001505)3.27971326
80response to histamine (GO:0034776)3.24980314
81G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.23985941
82positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.23889131
83fear response (GO:0042596)3.23450978
84* learning (GO:0007612)3.22964813
85positive regulation of synapse assembly (GO:0051965)3.19048372
86positive regulation of synaptic transmission, GABAergic (GO:0032230)3.18915752
87membrane hyperpolarization (GO:0060081)3.18803184
88synapse assembly (GO:0007416)3.18559422
89positive regulation of neurotransmitter transport (GO:0051590)3.18474773
90cell differentiation in hindbrain (GO:0021533)3.16340712
91central nervous system projection neuron axonogenesis (GO:0021952)3.15983993
92membrane depolarization during action potential (GO:0086010)3.15551534
93dendrite morphogenesis (GO:0048813)3.15314031
94positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.13994143
95* regulation of dendritic spine development (GO:0060998)3.13757162
96* positive regulation of dendritic spine development (GO:0060999)3.12473685
97cellular sodium ion homeostasis (GO:0006883)3.12340709
98regulation of neurotransmitter transport (GO:0051588)3.12328279
99startle response (GO:0001964)3.10836995
100response to auditory stimulus (GO:0010996)3.10285184
101innervation (GO:0060384)3.06044803
102neuronal ion channel clustering (GO:0045161)3.05877015
103regulation of synaptic transmission (GO:0050804)3.04996690
104regulation of respiratory system process (GO:0044065)3.04327120
105synaptic transmission (GO:0007268)3.03903345
106neuromuscular process controlling posture (GO:0050884)3.03171792
107cellular potassium ion transport (GO:0071804)3.02451993
108potassium ion transmembrane transport (GO:0071805)3.02451993
109regulation of glutamate secretion (GO:0014048)3.00884141
110activation of protein kinase A activity (GO:0034199)3.00759519
111L-amino acid import (GO:0043092)2.99826360
112regulation of synapse maturation (GO:0090128)2.97618935
113* neuromuscular process (GO:0050905)2.92654866
114* intraspecies interaction between organisms (GO:0051703)2.91135229
115* social behavior (GO:0035176)2.91135229
116cerebellar granule cell differentiation (GO:0021707)2.90474445
117regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.90396015
118behavioral response to cocaine (GO:0048148)2.90360772
119positive regulation of synaptic transmission (GO:0050806)2.90221656
120serotonin metabolic process (GO:0042428)2.90021775
121* positive regulation of dendrite development (GO:1900006)2.87034981
122acidic amino acid transport (GO:0015800)2.86965340
123regulation of dendrite morphogenesis (GO:0048814)2.85843983
124regulation of exocytosis (GO:0017157)2.82923570

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.99110727
2GBX2_23144817_ChIP-Seq_PC3_Human3.64084597
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.37190591
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.20839682
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.09250200
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.84194180
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.84194180
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.79097365
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.74260804
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.71956702
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.68287970
12REST_21632747_ChIP-Seq_MESCs_Mouse2.67795808
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.56712602
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51891750
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.49338096
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48757332
17DROSHA_22980978_ChIP-Seq_HELA_Human2.39728700
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.35618817
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.34500170
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.25285052
21* RNF2_27304074_Chip-Seq_ESCs_Mouse2.25096089
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.18010830
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.06879983
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.03633464
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91862482
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86222990
27TAF15_26573619_Chip-Seq_HEK293_Human1.84098902
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83743395
29AR_21572438_ChIP-Seq_LNCaP_Human1.79575279
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.73202306
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.71823193
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.71597806
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.69573995
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.65927707
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.61697085
36* SMAD4_21799915_ChIP-Seq_A2780_Human1.61510879
37PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.60630480
38CBX2_27304074_Chip-Seq_ESCs_Mouse1.58768617
39BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51958512
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51266163
41ZNF274_21170338_ChIP-Seq_K562_Hela1.48528856
42* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.48156339
43P300_19829295_ChIP-Seq_ESCs_Human1.47776805
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.45711175
45RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.44582437
46* KDM2B_26808549_Chip-Seq_K562_Human1.42943978
47ZFP281_18757296_ChIP-ChIP_E14_Mouse1.40347412
48GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36600757
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.35854124
50RING1B_27294783_Chip-Seq_ESCs_Mouse1.35430289
51IGF1R_20145208_ChIP-Seq_DFB_Human1.32623275
52TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.31264634
53* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.30786400
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.28695134
55RNF2_27304074_Chip-Seq_NSC_Mouse1.28247256
56TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25927082
57AR_25329375_ChIP-Seq_VCAP_Human1.23042246
58CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22639374
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.19768176
60SOX2_21211035_ChIP-Seq_LN229_Gbm1.18382828
61TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17775064
62PIAS1_25552417_ChIP-Seq_VCAP_Human1.17646827
63* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.16175225
64NR3C1_23031785_ChIP-Seq_PC12_Mouse1.16101282
65OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15896925
66RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15752073
67POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14978054
68RING1B_27294783_Chip-Seq_NPCs_Mouse1.14037963
69STAT3_23295773_ChIP-Seq_U87_Human1.14016533
70FUS_26573619_Chip-Seq_HEK293_Human1.13195439
71CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.12803648
72CTCF_27219007_Chip-Seq_Bcells_Human1.11933880
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11159659
74AR_19668381_ChIP-Seq_PC3_Human1.08482369
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07940480
76GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06498881
77SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06020965
78TCF4_23295773_ChIP-Seq_U87_Human1.05130567
79VDR_22108803_ChIP-Seq_LS180_Human1.04214470
80WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04188498
81P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03602657
82UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03269948
83RUNX2_22187159_ChIP-Seq_PCA_Human1.02583986
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02468663
85PRDM14_20953172_ChIP-Seq_ESCs_Human1.01127116
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00782424
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00782424
88CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00077879
89WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00075713
90TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99539972
91NANOG_18555785_Chip-Seq_ESCs_Mouse0.99138924
92TP53_16413492_ChIP-PET_HCT116_Human0.98801778
93* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98750356
94TET1_21490601_ChIP-Seq_MESCs_Mouse0.97840291
95ARNT_22903824_ChIP-Seq_MCF-7_Human0.97446777
96DNAJC2_21179169_ChIP-ChIP_NT2_Human0.96541092
97SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95967217
98YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95889393
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95341720
100OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94849871
101TP53_20018659_ChIP-ChIP_R1E_Mouse0.93598875
102AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.93508041
103ZNF217_24962896_ChIP-Seq_MCF-7_Human0.92923426
104ER_23166858_ChIP-Seq_MCF-7_Human0.92451108
105* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92304807
106EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.90521558
107TP53_18474530_ChIP-ChIP_U2OS_Human0.90317663
108AHR_22903824_ChIP-Seq_MCF-7_Human0.89771508
109CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.89690708
110BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.89513928
111RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89121125
112JUN_21703547_ChIP-Seq_K562_Human0.88384507
113VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.87610234
114GATA1_26923725_Chip-Seq_HPCs_Mouse0.87574968
115ESR2_21235772_ChIP-Seq_MCF-7_Human0.86907470
116SMAD3_21741376_ChIP-Seq_ESCs_Human0.86351416
117* LXR_22292898_ChIP-Seq_THP-1_Human0.86255604
118SMAD3_21741376_ChIP-Seq_HESCs_Human0.86129877
119TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85981946
120E2F1_18555785_Chip-Seq_ESCs_Mouse0.85071393
121EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.84147340
122SMAD4_21741376_ChIP-Seq_HESCs_Human0.83695733
123KLF4_19829295_ChIP-Seq_ESCs_Human0.82753050
124OCT4_19829295_ChIP-Seq_ESCs_Human0.82437087
125ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.80450405
126CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80445129
127KDM2B_26808549_Chip-Seq_REH_Human0.78632366
128SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78185082
129DPY_21335234_ChIP-Seq_ESCs_Mouse0.77768123
130PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.77379422
131PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.76124414

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.52228366
2MP0003880_abnormal_central_pattern5.42926945
3* MP0003635_abnormal_synaptic_transmissio4.19275378
4MP0004270_analgesia3.69066514
5MP0009745_abnormal_behavioral_response3.52061715
6* MP0002063_abnormal_learning/memory/cond3.27680189
7MP0002064_seizures3.15327279
8MP0009046_muscle_twitch3.02576808
9MP0001968_abnormal_touch/_nociception3.02558029
10MP0005423_abnormal_somatic_nervous2.95760950
11* MP0002572_abnormal_emotion/affect_behav2.81937970
12MP0001486_abnormal_startle_reflex2.68939456
13MP0002272_abnormal_nervous_system2.66902369
14MP0002734_abnormal_mechanical_nocicepti2.62900575
15MP0001501_abnormal_sleep_pattern2.46098344
16MP0002736_abnormal_nociception_after2.30750738
17MP0001440_abnormal_grooming_behavior2.29734523
18MP0002735_abnormal_chemical_nociception2.26381718
19MP0002067_abnormal_sensory_capabilities2.06546728
20MP0000778_abnormal_nervous_system2.00606740
21MP0002822_catalepsy2.00517927
22MP0002184_abnormal_innervation1.98229333
23MP0002733_abnormal_thermal_nociception1.97783324
24MP0001970_abnormal_pain_threshold1.94624594
25MP0006276_abnormal_autonomic_nervous1.93440205
26MP0008569_lethality_at_weaning1.87428230
27MP0001188_hyperpigmentation1.78133003
28* MP0002557_abnormal_social/conspecific_i1.76507545
29MP0003879_abnormal_hair_cell1.67963143
30MP0005386_behavior/neurological_phenoty1.63194391
31MP0004924_abnormal_behavior1.63194391
32MP0003329_amyloid_beta_deposits1.61246892
33MP0004811_abnormal_neuron_physiology1.60792354
34MP0001905_abnormal_dopamine_level1.51992972
35MP0000955_abnormal_spinal_cord1.50881844
36MP0005409_darkened_coat_color1.50783780
37MP0001984_abnormal_olfaction1.48163777
38* MP0002882_abnormal_neuron_morphology1.43603172
39MP0005646_abnormal_pituitary_gland1.43478790
40MP0004858_abnormal_nervous_system1.43156375
41MP0009780_abnormal_chondrocyte_physiolo1.40597121
42MP0001529_abnormal_vocalization1.40585797
43MP0005645_abnormal_hypothalamus_physiol1.40579833
44* MP0002066_abnormal_motor_capabilities/c1.39916358
45MP0004142_abnormal_muscle_tone1.38349186
46MP0003787_abnormal_imprinting1.38229834
47MP0004885_abnormal_endolymph1.31479862
48MP0001348_abnormal_lacrimal_gland1.31225164
49MP0001502_abnormal_circadian_rhythm1.30450267
50MP0004130_abnormal_muscle_cell1.28696923
51MP0002909_abnormal_adrenal_gland1.26647036
52MP0004145_abnormal_muscle_electrophysio1.22729570
53MP0003633_abnormal_nervous_system1.19419774
54MP0006292_abnormal_olfactory_placode1.15237525
55MP0004742_abnormal_vestibular_system1.11971170
56* MP0002152_abnormal_brain_morphology1.10827519
57MP0005551_abnormal_eye_electrophysiolog1.08460478
58MP0000751_myopathy1.05260185
59MP0003631_nervous_system_phenotype1.04572198
60MP0010386_abnormal_urinary_bladder1.02306888
61MP0003122_maternal_imprinting1.00045906
62MP0001963_abnormal_hearing_physiology0.99956475
63MP0002229_neurodegeneration0.97751120
64MP0008872_abnormal_physiological_respon0.94389316
65MP0002102_abnormal_ear_morphology0.93440717
66MP0009379_abnormal_foot_pigmentation0.93031806
67MP0002638_abnormal_pupillary_reflex0.92807821
68MP0000631_abnormal_neuroendocrine_gland0.92710411
69MP0002752_abnormal_somatic_nervous0.90704981
70MP0002069_abnormal_eating/drinking_beha0.90699061
71MP0008961_abnormal_basal_metabolism0.87523967
72MP0004510_myositis0.86562424
73MP0005499_abnormal_olfactory_system0.85310202
74MP0005394_taste/olfaction_phenotype0.85310202
75MP0008874_decreased_physiological_sensi0.83121234
76MP0003283_abnormal_digestive_organ0.81694909
77MP0001986_abnormal_taste_sensitivity0.80491841
78MP0001485_abnormal_pinna_reflex0.79529038
79MP0000920_abnormal_myelination0.79248780
80MP0002876_abnormal_thyroid_physiology0.78932086
81MP0005535_abnormal_body_temperature0.78566105
82MP0000026_abnormal_inner_ear0.76114449
83MP0004085_abnormal_heartbeat0.75832796
84MP0002837_dystrophic_cardiac_calcinosis0.75815074
85MP0003632_abnormal_nervous_system0.75420654
86MP0005167_abnormal_blood-brain_barrier0.74628508
87MP0001177_atelectasis0.74261347
88MP0003634_abnormal_glial_cell0.70720879
89MP0003938_abnormal_ear_development0.70203561
90MP0003045_fibrosis0.69909992
91MP0001664_abnormal_digestion0.69748755
92MP0006072_abnormal_retinal_apoptosis0.69728382
93MP0004484_altered_response_of0.69592790
94MP0004147_increased_porphyrin_level0.67908265
95MP0003123_paternal_imprinting0.67668991
96MP0000015_abnormal_ear_pigmentation0.65212426
97MP0003137_abnormal_impulse_conducting0.64572075
98MP0003183_abnormal_peptide_metabolism0.60582434
99MP0003075_altered_response_to0.60425757
100MP0004215_abnormal_myocardial_fiber0.60148208
101MP0002249_abnormal_larynx_morphology0.60096308
102MP0000604_amyloidosis0.59256981
103* MP0003861_abnormal_nervous_system0.58408220
104MP0000569_abnormal_digit_pigmentation0.57991977
105MP0003690_abnormal_glial_cell0.57634259
106MP0005377_hearing/vestibular/ear_phenot0.56360427
107MP0003878_abnormal_ear_physiology0.56360427
108MP0003172_abnormal_lysosome_physiology0.54757470
109MP0001943_abnormal_respiration0.54418252
110MP0005448_abnormal_energy_balance0.54391557
111MP0010769_abnormal_survival0.53222532
112MP0005623_abnormal_meninges_morphology0.52402165
113MP0010770_preweaning_lethality0.51555328
114MP0002082_postnatal_lethality0.51555328
115MP0010768_mortality/aging0.50888843
116MP0005171_absent_coat_pigmentation0.49161903
117MP0002089_abnormal_postnatal_growth/wei0.48917925

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.20074446
2Myokymia (HP:0002411)6.72601153
3Focal seizures (HP:0007359)5.99199069
4Visual hallucinations (HP:0002367)5.56510341
5Epileptic encephalopathy (HP:0200134)5.10834013
6Febrile seizures (HP:0002373)5.00257580
7Progressive cerebellar ataxia (HP:0002073)4.86883065
8Atonic seizures (HP:0010819)4.86296883
9Absence seizures (HP:0002121)4.30642415
10Broad-based gait (HP:0002136)4.16581362
11Generalized tonic-clonic seizures (HP:0002069)3.99842708
12Dialeptic seizures (HP:0011146)3.98716331
13Action tremor (HP:0002345)3.83288650
14Gaze-evoked nystagmus (HP:0000640)3.76335232
15Hyperventilation (HP:0002883)3.65233939
16Annular pancreas (HP:0001734)3.59966820
17Supranuclear gaze palsy (HP:0000605)3.46540007
18Amblyopia (HP:0000646)3.45484204
19Poor eye contact (HP:0000817)3.26297363
20Dysmetria (HP:0001310)3.20897554
21Dysdiadochokinesis (HP:0002075)3.14040844
22Anxiety (HP:0000739)3.13122582
23Mutism (HP:0002300)3.09435587
24Hemiparesis (HP:0001269)3.05515802
25Excessive salivation (HP:0003781)3.03882901
26Drooling (HP:0002307)3.03882901
27Truncal ataxia (HP:0002078)3.00357857
28Ankle clonus (HP:0011448)2.99347976
29Impaired vibration sensation in the lower limbs (HP:0002166)2.98752284
30Depression (HP:0000716)2.92420882
31Genetic anticipation (HP:0003743)2.90325225
32Urinary bladder sphincter dysfunction (HP:0002839)2.89402797
33Impaired social interactions (HP:0000735)2.81694095
34Abnormal social behavior (HP:0012433)2.81694095
35Progressive inability to walk (HP:0002505)2.81622120
36Diplopia (HP:0000651)2.78950410
37Abnormality of binocular vision (HP:0011514)2.78950410
38Tetraplegia (HP:0002445)2.78339717
39Abnormal eating behavior (HP:0100738)2.76470515
40Absent speech (HP:0001344)2.71323659
41Impaired smooth pursuit (HP:0007772)2.68278887
42Akinesia (HP:0002304)2.65884696
43Cerebral inclusion bodies (HP:0100314)2.57402315
44Stereotypic behavior (HP:0000733)2.54335759
45Scanning speech (HP:0002168)2.51764520
46Clonus (HP:0002169)2.50831460
47Postural instability (HP:0002172)2.49707885
48Papilledema (HP:0001085)2.47971068
49Neurofibrillary tangles (HP:0002185)2.46617002
50Cerebral hypomyelination (HP:0006808)2.46310102
51Inability to walk (HP:0002540)2.45813377
52Epileptiform EEG discharges (HP:0011182)2.43839439
53Hemiplegia (HP:0002301)2.40101286
54Apathy (HP:0000741)2.33593071
55Spastic gait (HP:0002064)2.32110018
56Abnormality of ocular smooth pursuit (HP:0000617)2.29010543
57Agitation (HP:0000713)2.27385095
58Limb dystonia (HP:0002451)2.26345076
59EEG with generalized epileptiform discharges (HP:0011198)2.25227112
60Generalized myoclonic seizures (HP:0002123)2.22924893
61Dynein arm defect of respiratory motile cilia (HP:0012255)2.21913270
62Absent/shortened dynein arms (HP:0200106)2.21913270
63Urinary urgency (HP:0000012)2.17728281
64Torticollis (HP:0000473)2.17346161
65Fetal akinesia sequence (HP:0001989)2.16922793
66Protruding tongue (HP:0010808)2.15739070
67Bradykinesia (HP:0002067)2.15388544
68Abnormality of salivation (HP:0100755)2.15344211
69Intention tremor (HP:0002080)2.15082462
70Status epilepticus (HP:0002133)2.14488747
71Polyphagia (HP:0002591)2.13443049
72Focal dystonia (HP:0004373)2.12303303
73Delusions (HP:0000746)2.09807678
74Abnormality of the corticospinal tract (HP:0002492)2.09717395
75Obstructive sleep apnea (HP:0002870)2.08531595
76Impaired vibratory sensation (HP:0002495)2.07154002
77Hypsarrhythmia (HP:0002521)2.05715241
78Slow saccadic eye movements (HP:0000514)2.04794215
79Diminished motivation (HP:0000745)2.04057044
80Bundle branch block (HP:0011710)2.03018223
81Abnormality of the lower motor neuron (HP:0002366)2.02420858
82Morphological abnormality of the pyramidal tract (HP:0002062)2.01934359
83Blue irides (HP:0000635)2.01137990
84Retinal dysplasia (HP:0007973)2.00800852
85Rigidity (HP:0002063)2.00434755
86Lower limb amyotrophy (HP:0007210)1.97551745
87Spinal canal stenosis (HP:0003416)1.96584133
88Psychosis (HP:0000709)1.95734921
89Inappropriate behavior (HP:0000719)1.95595210
90Megalencephaly (HP:0001355)1.95214748
91Aplasia involving bones of the extremities (HP:0009825)1.92044488
92Aplasia involving bones of the upper limbs (HP:0009823)1.92044488
93Aplasia of the phalanges of the hand (HP:0009802)1.92044488
94Peripheral hypomyelination (HP:0007182)1.90130374
95Incomplete penetrance (HP:0003829)1.89809425
96Lower limb muscle weakness (HP:0007340)1.86277057
97Insidious onset (HP:0003587)1.86263677
98Termporal pattern (HP:0011008)1.86263677
99Spastic tetraparesis (HP:0001285)1.86043656
100Ventricular fibrillation (HP:0001663)1.85915094
101Gait ataxia (HP:0002066)1.85890745
102Limb ataxia (HP:0002070)1.85763225
103Rapidly progressive (HP:0003678)1.85659363
104Prolonged QT interval (HP:0001657)1.85085273
105Overgrowth (HP:0001548)1.84977328
106Esotropia (HP:0000565)1.84778267
107Amyotrophic lateral sclerosis (HP:0007354)1.83321538
108Bronchomalacia (HP:0002780)1.82460949
109Abnormal ciliary motility (HP:0012262)1.79324872
110Craniofacial dystonia (HP:0012179)1.78945389
111Syncope (HP:0001279)1.77766973
112Abnormal EKG (HP:0003115)1.76376591
113Heart block (HP:0012722)1.76138705
114Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.73951653
115Autism (HP:0000717)1.73618366
116Widely spaced teeth (HP:0000687)1.72490806
117Dysmetric saccades (HP:0000641)1.72129411
118Generalized hypopigmentation of hair (HP:0011358)1.69368020
119Gait imbalance (HP:0002141)1.68209004
120Sleep apnea (HP:0010535)1.66655614
121Horizontal nystagmus (HP:0000666)1.66401751
122Lower limb asymmetry (HP:0100559)1.65976656
123Insomnia (HP:0100785)1.65112631
124Abnormality of saccadic eye movements (HP:0000570)1.64915306
125Macroglossia (HP:0000158)1.64385835
126Neuronal loss in central nervous system (HP:0002529)1.64325791

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.63507563
2EPHA44.36696653
3MAP3K93.18670513
4MARK13.17282034
5MAP3K42.75498549
6TNIK2.74567965
7MAP2K72.74250459
8CASK2.57143628
9MINK12.56254911
10RIPK42.55375651
11DAPK22.37718586
12MAP3K122.18855462
13NTRK22.18190968
14PAK62.08786901
15PNCK2.08721060
16SIK21.89140515
17MAPK131.79246116
18MAP2K41.69267934
19RIPK11.66243147
20GRK51.66127079
21PLK21.64098767
22DAPK11.62769819
23FES1.57877982
24NTRK11.56310673
25PRPF4B1.52249609
26CDK51.51431187
27CAMKK11.49619023
28PRKD31.44524754
29BLK1.41966595
30CDK191.40650056
31KSR11.29846888
32KSR21.27190323
33PRKCG1.25640993
34UHMK11.25506572
35STK381.24192022
36MUSK1.17767402
37CAMK11.17629482
38CAMK2A1.15750799
39BMPR21.10471859
40CAMK2B1.07423028
41MAP3K131.07421911
42CAMKK21.04755134
43ARAF1.01076869
44DYRK1A0.92357218
45FGR0.92067872
46NME10.91255013
47PTK2B0.89589900
48STK110.88725048
49PHKG10.85202050
50PHKG20.85202050
51MARK20.81511278
52OXSR10.81322389
53CDK180.79133244
54CDK150.77716600
55CSNK1G20.75382693
56TYRO30.74117201
57CDK140.73900583
58WNK10.73123538
59FRK0.71776284
60CDK11A0.70447836
61SGK10.69386436
62SGK2230.68025822
63SGK4940.68025822
64TNK20.65825244
65RAF10.65153909
66CAMK1G0.63658770
67GRK70.62778924
68PAK30.61085765
69MAP3K20.60474381
70LATS20.58900006
71PRKCE0.58457104
72TAOK10.58052522
73CAMK2D0.58002257
74FGFR20.54406505
75CDC42BPA0.52283205
76PKN10.52187463
77PRKCH0.51806999
78SGK20.51136737
79PINK10.50918835
80NEK60.50167631
81CAMK40.49819984
82PRKCZ0.49774437
83ERBB20.48705377
84CAMK2G0.48007294
85BRSK10.47698366
86MAP3K110.46769619
87SIK30.46484255
88FYN0.46465423
89MAP3K60.46344117
90MAP3K70.45911281
91ROCK20.44377806
92RPS6KA30.42575017
93INSRR0.42093879
94FER0.41787977
95DAPK30.40755214
96RET0.40262971
97ADRBK20.39889117
98PDK10.38568543
99PRKD20.38525749
100MAPK120.38523990
101HIPK20.38372142
102MAPK100.38172196
103PRKG10.36020425
104PDPK10.34506643
105PRKACA0.34169004
106PRKG20.33530592
107MAPK80.32644541
108ROCK10.32595842
109WNK30.32569122
110PRKCB0.31504578
111SGK30.31167947
112PRKCA0.30774993
113SRC0.30543609
114ALK0.30418988
115MAPK40.29822328
116MAP2K60.28688093
117CAMK1D0.28542743
118GSK3B0.27904224
119BRAF0.26639193

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.36177223
2Synaptic vesicle cycle_Homo sapiens_hsa047213.06173773
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.94454421
4Circadian entrainment_Homo sapiens_hsa047132.82420920
5* Glutamatergic synapse_Homo sapiens_hsa047242.81734983
6Long-term potentiation_Homo sapiens_hsa047202.80922981
7GABAergic synapse_Homo sapiens_hsa047272.72542760
8Olfactory transduction_Homo sapiens_hsa047402.61382239
9Morphine addiction_Homo sapiens_hsa050322.60183019
10Amphetamine addiction_Homo sapiens_hsa050312.55246585
11Salivary secretion_Homo sapiens_hsa049702.35421955
12Dopaminergic synapse_Homo sapiens_hsa047282.15951428
13Taste transduction_Homo sapiens_hsa047422.08279739
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.05660790
15Insulin secretion_Homo sapiens_hsa049111.97026994
16Gastric acid secretion_Homo sapiens_hsa049711.94692633
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.93872279
18Cholinergic synapse_Homo sapiens_hsa047251.92393400
19Serotonergic synapse_Homo sapiens_hsa047261.90285718
20Long-term depression_Homo sapiens_hsa047301.88187565
21Calcium signaling pathway_Homo sapiens_hsa040201.79608523
22Renin secretion_Homo sapiens_hsa049241.75946715
23Oxytocin signaling pathway_Homo sapiens_hsa049211.72227736
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62107457
25Cocaine addiction_Homo sapiens_hsa050301.59734418
26GnRH signaling pathway_Homo sapiens_hsa049121.46206986
27Collecting duct acid secretion_Homo sapiens_hsa049661.44754671
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.39081758
29Phototransduction_Homo sapiens_hsa047441.37598913
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32606575
31Cardiac muscle contraction_Homo sapiens_hsa042601.32420322
32Gap junction_Homo sapiens_hsa045401.31004381
33cAMP signaling pathway_Homo sapiens_hsa040241.30630538
34Axon guidance_Homo sapiens_hsa043601.28686314
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.23070510
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.18382966
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.12184731
38Melanogenesis_Homo sapiens_hsa049161.10552079
39Type II diabetes mellitus_Homo sapiens_hsa049301.06054344
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.05735649
41Estrogen signaling pathway_Homo sapiens_hsa049151.05264442
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04277447
43Vitamin B6 metabolism_Homo sapiens_hsa007501.01141890
44Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.00973067
45Alzheimers disease_Homo sapiens_hsa050100.99212341
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.97072035
47Glioma_Homo sapiens_hsa052140.95627423
48Pancreatic secretion_Homo sapiens_hsa049720.94921297
49ErbB signaling pathway_Homo sapiens_hsa040120.93973276
50Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92180651
51Oxidative phosphorylation_Homo sapiens_hsa001900.88981413
52Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.83568115
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.81170513
54Vibrio cholerae infection_Homo sapiens_hsa051100.80268798
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.76415321
56Thyroid hormone synthesis_Homo sapiens_hsa049180.71737632
57Choline metabolism in cancer_Homo sapiens_hsa052310.70687008
58MAPK signaling pathway_Homo sapiens_hsa040100.70171710
59Oocyte meiosis_Homo sapiens_hsa041140.68934905
60African trypanosomiasis_Homo sapiens_hsa051430.68617726
61Dilated cardiomyopathy_Homo sapiens_hsa054140.68457697
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68072065
63Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.67546975
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65695924
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64822976
66Dorso-ventral axis formation_Homo sapiens_hsa043200.62733486
67Ras signaling pathway_Homo sapiens_hsa040140.60149720
68Parkinsons disease_Homo sapiens_hsa050120.60077533
69Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.56240932
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55225908
71Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54406358
72VEGF signaling pathway_Homo sapiens_hsa043700.54287635
73Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.53262571
74Wnt signaling pathway_Homo sapiens_hsa043100.52515533
75Rap1 signaling pathway_Homo sapiens_hsa040150.51429635
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.51103254
77Huntingtons disease_Homo sapiens_hsa050160.50729810
78Carbohydrate digestion and absorption_Homo sapiens_hsa049730.50626847
79Alcoholism_Homo sapiens_hsa050340.50370371
80Inositol phosphate metabolism_Homo sapiens_hsa005620.48045321
81Neurotrophin signaling pathway_Homo sapiens_hsa047220.47070550
82Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46756892
83Glucagon signaling pathway_Homo sapiens_hsa049220.45272186
84Circadian rhythm_Homo sapiens_hsa047100.44056294
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43812630
86Type I diabetes mellitus_Homo sapiens_hsa049400.43388981
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43369150
88Platelet activation_Homo sapiens_hsa046110.42673319
89Ovarian steroidogenesis_Homo sapiens_hsa049130.35552603
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33667983
91Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32870664
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31551874
93Chemokine signaling pathway_Homo sapiens_hsa040620.30991428
94Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.30775205
95Endocytosis_Homo sapiens_hsa041440.30115705
96Prion diseases_Homo sapiens_hsa050200.25342956
97Renal cell carcinoma_Homo sapiens_hsa052110.24810668
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.23921802
99Rheumatoid arthritis_Homo sapiens_hsa053230.23459333
100Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23350265
101AMPK signaling pathway_Homo sapiens_hsa041520.22919143
102Bile secretion_Homo sapiens_hsa049760.22369660
103Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.22305753
104ABC transporters_Homo sapiens_hsa020100.21726002
105Hippo signaling pathway_Homo sapiens_hsa043900.20945700
106Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.20662163
107Non-small cell lung cancer_Homo sapiens_hsa052230.20255288
108Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.19007246
109Glycerophospholipid metabolism_Homo sapiens_hsa005640.18776608
110mTOR signaling pathway_Homo sapiens_hsa041500.18534526
111Insulin signaling pathway_Homo sapiens_hsa049100.17690104
112Mineral absorption_Homo sapiens_hsa049780.17103909
113Protein digestion and absorption_Homo sapiens_hsa049740.15806237

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