APBA2

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





Description: The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.97293927
2synaptic vesicle maturation (GO:0016188)5.63875083
3vocalization behavior (GO:0071625)5.63313790
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.59536385
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.56690116
6locomotory exploration behavior (GO:0035641)5.53705302
7synaptic vesicle exocytosis (GO:0016079)5.45083919
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.23722074
9glutamate secretion (GO:0014047)5.20830656
10neuron cell-cell adhesion (GO:0007158)5.20481030
11protein localization to synapse (GO:0035418)5.06896229
12regulation of glutamate receptor signaling pathway (GO:1900449)4.98746857
13regulation of synaptic vesicle exocytosis (GO:2000300)4.95254652
14synaptic vesicle docking involved in exocytosis (GO:0016081)4.88266447
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.66762457
16layer formation in cerebral cortex (GO:0021819)4.57702496
17exploration behavior (GO:0035640)4.53364546
18neurotransmitter-gated ion channel clustering (GO:0072578)4.39814865
19regulation of synaptic vesicle transport (GO:1902803)4.37768722
20positive regulation of synapse maturation (GO:0090129)4.36856262
21neurotransmitter secretion (GO:0007269)4.36521660
22glutamate receptor signaling pathway (GO:0007215)4.32133333
23dendritic spine morphogenesis (GO:0060997)4.29706175
24neuronal action potential propagation (GO:0019227)4.26999012
25synaptic transmission, glutamatergic (GO:0035249)4.25193353
26regulation of neuronal synaptic plasticity (GO:0048168)4.25084889
27regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.22220664
28establishment of mitochondrion localization (GO:0051654)4.19667732
29regulation of long-term neuronal synaptic plasticity (GO:0048169)4.12649946
30regulation of synapse structural plasticity (GO:0051823)4.12368840
31axon ensheathment in central nervous system (GO:0032291)4.11676418
32central nervous system myelination (GO:0022010)4.11676418
33neuron recognition (GO:0008038)4.09047948
34postsynaptic membrane organization (GO:0001941)3.96245136
35neuron-neuron synaptic transmission (GO:0007270)3.95964374
36axonal fasciculation (GO:0007413)3.89059819
37proline transport (GO:0015824)3.84991465
38long-term memory (GO:0007616)3.82183472
39positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.77004043
40gamma-aminobutyric acid transport (GO:0015812)3.76791808
41positive regulation of membrane potential (GO:0045838)3.74947919
42amino acid import (GO:0043090)3.74475459
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.71346155
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.70171337
45cellular potassium ion homeostasis (GO:0030007)3.67152524
46synaptic vesicle endocytosis (GO:0048488)3.64326284
47membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.62481833
48dendrite morphogenesis (GO:0048813)3.61910690
49G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.61853016
50response to pheromone (GO:0019236)3.61292223
51cerebellar granule cell differentiation (GO:0021707)3.59951265
52gamma-aminobutyric acid signaling pathway (GO:0007214)3.59824356
53regulation of postsynaptic membrane potential (GO:0060078)3.57018867
54neurotransmitter transport (GO:0006836)3.56569948
55auditory behavior (GO:0031223)3.56103303
56presynaptic membrane assembly (GO:0097105)3.54262784
57potassium ion homeostasis (GO:0055075)3.53313583
58regulation of dendritic spine morphogenesis (GO:0061001)3.51399393
59cell migration in hindbrain (GO:0021535)3.51183832
60potassium ion import (GO:0010107)3.50674200
61nucleobase catabolic process (GO:0046113)3.49811114
62cerebellar Purkinje cell differentiation (GO:0021702)3.49074670
63regulation of neurotransmitter secretion (GO:0046928)3.47856799
64regulation of synapse maturation (GO:0090128)3.46790041
65neuromuscular synaptic transmission (GO:0007274)3.46752582
66transmission of nerve impulse (GO:0019226)3.46187148
67regulation of synaptic plasticity (GO:0048167)3.44694742
68negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.43181639
69presynaptic membrane organization (GO:0097090)3.40902318
70positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.40866667
71regulation of synaptic transmission, glutamatergic (GO:0051966)3.38973635
72response to auditory stimulus (GO:0010996)3.37259815
73long-term synaptic potentiation (GO:0060291)3.37205636
74innervation (GO:0060384)3.36662891
75regulation of ARF protein signal transduction (GO:0032012)3.36526621
76sodium ion export (GO:0071436)3.35790977
77regulation of voltage-gated calcium channel activity (GO:1901385)3.35244419
78regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.35041973
79positive regulation of dendritic spine morphogenesis (GO:0061003)3.34440816
80negative regulation of synaptic transmission, GABAergic (GO:0032229)3.32065104
81central nervous system projection neuron axonogenesis (GO:0021952)3.31738727
82establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.29687795
83mitochondrion transport along microtubule (GO:0047497)3.29687795
84positive regulation of dendritic spine development (GO:0060999)3.26982747
85cell differentiation in hindbrain (GO:0021533)3.26386423
86regulation of neurotransmitter levels (GO:0001505)3.24261430
87regulation of vesicle fusion (GO:0031338)3.21615920
88neuromuscular process controlling balance (GO:0050885)3.20910323
89synapse assembly (GO:0007416)3.20746671
90adult walking behavior (GO:0007628)3.19510614
91acidic amino acid transport (GO:0015800)3.19042182
92positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.18473337
93positive regulation of neurotransmitter secretion (GO:0001956)3.16280701
94cell communication by electrical coupling (GO:0010644)3.16013559
95regulation of neurotransmitter transport (GO:0051588)3.15984004
96positive regulation of synaptic transmission, GABAergic (GO:0032230)3.15371069
97membrane hyperpolarization (GO:0060081)3.12185485
98positive regulation of synapse assembly (GO:0051965)3.11793901
99membrane depolarization (GO:0051899)3.09840967
100neurotransmitter uptake (GO:0001504)3.08197280
101G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.07921314
102pyrimidine nucleobase catabolic process (GO:0006208)3.06464875
103learning (GO:0007612)3.06282704
104dendritic spine organization (GO:0097061)3.05885911
105regulation of dendritic spine development (GO:0060998)3.05553755
106activation of protein kinase A activity (GO:0034199)3.04933299
107membrane depolarization during action potential (GO:0086010)3.03401645
108regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.03276830
109regulation of respiratory system process (GO:0044065)3.01438550
110neuronal ion channel clustering (GO:0045161)3.01389695
111mechanosensory behavior (GO:0007638)3.01234964
112cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.01071166
113behavioral defense response (GO:0002209)3.00442248
114behavioral fear response (GO:0001662)3.00442248
115negative regulation of microtubule polymerization (GO:0031115)2.99380791
116regulation of synaptic transmission (GO:0050804)2.96272757
117positive regulation of neurotransmitter transport (GO:0051590)2.95497940
118synapse organization (GO:0050808)2.94684906
119L-amino acid import (GO:0043092)2.93526867

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.09972241
2GBX2_23144817_ChIP-Seq_PC3_Human3.56840733
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.20387046
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.18128990
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04175127
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.82587997
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.82587997
8REST_21632747_ChIP-Seq_MESCs_Mouse2.78561648
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.75682670
10* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.75613010
11* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.66181301
12* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60076887
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.50586598
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49149295
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.48201551
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48180689
17DROSHA_22980978_ChIP-Seq_HELA_Human2.42928826
18* EZH2_27294783_Chip-Seq_ESCs_Mouse2.40822593
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.39666462
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.34661600
21RARB_27405468_Chip-Seq_BRAIN_Mouse2.28682548
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.26349142
23* REST_18959480_ChIP-ChIP_MESCs_Mouse2.25115821
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.21653973
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.13926869
26IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03630617
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.02092829
28AR_21572438_ChIP-Seq_LNCaP_Human1.91510288
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.85655037
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.84944391
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.81127200
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.76511811
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68065939
34TAF15_26573619_Chip-Seq_HEK293_Human1.67679803
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.63363198
36CBX2_27304074_Chip-Seq_ESCs_Mouse1.60457966
37PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.59917228
38RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.54745230
39SMAD4_21799915_ChIP-Seq_A2780_Human1.54628961
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51135694
41ERG_21242973_ChIP-ChIP_JURKAT_Human1.50966752
42CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.50072908
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.49833239
44ZNF274_21170338_ChIP-Seq_K562_Hela1.49115028
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.45384715
46ZFP281_27345836_Chip-Seq_ESCs_Mouse1.43539541
47BMI1_23680149_ChIP-Seq_NPCS_Mouse1.38820140
48P300_19829295_ChIP-Seq_ESCs_Human1.36457767
49RNF2_27304074_Chip-Seq_NSC_Mouse1.30970914
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30500213
51TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28297984
52RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.27813559
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.27626662
54* SOX2_21211035_ChIP-Seq_LN229_Gbm1.26624611
55CTCF_27219007_Chip-Seq_Bcells_Human1.25854975
56RING1B_27294783_Chip-Seq_NPCs_Mouse1.25527252
57EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.24710632
58AR_25329375_ChIP-Seq_VCAP_Human1.22836801
59GATA1_26923725_Chip-Seq_HPCs_Mouse1.20423411
60IGF1R_20145208_ChIP-Seq_DFB_Human1.20363536
61* AR_19668381_ChIP-Seq_PC3_Human1.19932574
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19811632
63TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19208221
64* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17554895
65TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.17046713
66* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14484961
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13484636
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13415036
69PIAS1_25552417_ChIP-Seq_VCAP_Human1.13140383
70* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13049520
71* STAT3_23295773_ChIP-Seq_U87_Human1.12993439
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.11936562
73DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09627341
74SMAD_19615063_ChIP-ChIP_OVARY_Human1.09059236
75* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08578567
76SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.06024351
77MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.05257752
78TET1_21490601_ChIP-Seq_MESCs_Mouse1.03925948
79* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03914141
80ARNT_22903824_ChIP-Seq_MCF-7_Human1.03878082
81* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02745415
82ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02025763
83KDM2B_26808549_Chip-Seq_JURKAT_Human1.01780696
84TCF4_23295773_ChIP-Seq_U87_Human1.01728654
85POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01513410
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01513410
87OCT4_19829295_ChIP-Seq_ESCs_Human1.01083090
88CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00473576
89POU3F2_20337985_ChIP-ChIP_501MEL_Human0.99746953
90GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99678449
91ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.97864858
92WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.97717853
93* KDM2B_26808549_Chip-Seq_K562_Human0.97044557
94CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96731613
95RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.96427540
96AHR_22903824_ChIP-Seq_MCF-7_Human0.96080363
97RUNX2_22187159_ChIP-Seq_PCA_Human0.95684550
98* SMAD3_21741376_ChIP-Seq_ESCs_Human0.94758918
99ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94734724
100NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94370283
101* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93393416
102KDM2B_26808549_Chip-Seq_DND41_Human0.92890650
103* PRDM14_20953172_ChIP-Seq_ESCs_Human0.92803593
104AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92224809
105UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.91534677
106FUS_26573619_Chip-Seq_HEK293_Human0.91261056
107* SMAD4_21741376_ChIP-Seq_HESCs_Human0.90421855
108VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90345357
109SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90301367
110* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89427764
111RBPJ_22232070_ChIP-Seq_NCS_Mouse0.88011840
112TP53_20018659_ChIP-ChIP_R1E_Mouse0.87395980
113* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.87255543
114SRY_22984422_ChIP-ChIP_TESTIS_Rat0.87013846
115RUNX1_26923725_Chip-Seq_HPCs_Mouse0.86859063
116TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.86716146
117TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.86358724
118DPY_21335234_ChIP-Seq_ESCs_Mouse0.85333818
119ER_23166858_ChIP-Seq_MCF-7_Human0.85148418
120TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.84917563
121TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84781967
122HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.83126372
123FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.80746511
124* KLF4_19829295_ChIP-Seq_ESCs_Human0.79180318
125DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.79084387
126* SMC4_20622854_ChIP-Seq_HELA_Human0.78487533
127MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.77631784
128SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.77202040
129SOX9_26525672_Chip-Seq_HEART_Mouse0.76089651
130LXR_22292898_ChIP-Seq_THP-1_Human0.73672156

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.27646787
2MP0003880_abnormal_central_pattern4.80785618
3MP0003635_abnormal_synaptic_transmissio4.04967796
4MP0004270_analgesia3.63720580
5* MP0002063_abnormal_learning/memory/cond3.29184884
6MP0009745_abnormal_behavioral_response3.25358232
7MP0005423_abnormal_somatic_nervous3.11160521
8MP0002064_seizures3.05737363
9MP0009046_muscle_twitch2.99065470
10MP0001968_abnormal_touch/_nociception2.98282077
11* MP0002572_abnormal_emotion/affect_behav2.72717122
12MP0002734_abnormal_mechanical_nocicepti2.71761642
13MP0001486_abnormal_startle_reflex2.59255616
14MP0002272_abnormal_nervous_system2.49999724
15MP0002736_abnormal_nociception_after2.36281092
16MP0000778_abnormal_nervous_system2.35708252
17MP0002735_abnormal_chemical_nociception2.33687680
18MP0001440_abnormal_grooming_behavior2.20466479
19MP0002184_abnormal_innervation2.10794808
20MP0002067_abnormal_sensory_capabilities2.08725712
21MP0002733_abnormal_thermal_nociception2.02257835
22MP0001501_abnormal_sleep_pattern1.95878531
23MP0002822_catalepsy1.94651186
24MP0001970_abnormal_pain_threshold1.93976684
25MP0004858_abnormal_nervous_system1.91997491
26MP0006276_abnormal_autonomic_nervous1.91525859
27MP0008569_lethality_at_weaning1.88736386
28MP0001984_abnormal_olfaction1.85507149
29* MP0002557_abnormal_social/conspecific_i1.83705106
30MP0009780_abnormal_chondrocyte_physiolo1.82727521
31MP0004811_abnormal_neuron_physiology1.80707604
32MP0003329_amyloid_beta_deposits1.73226982
33MP0000955_abnormal_spinal_cord1.73124114
34MP0005386_behavior/neurological_phenoty1.69722161
35MP0004924_abnormal_behavior1.69722161
36MP0005646_abnormal_pituitary_gland1.59074873
37MP0002882_abnormal_neuron_morphology1.58905233
38MP0005645_abnormal_hypothalamus_physiol1.52387813
39MP0001502_abnormal_circadian_rhythm1.51204506
40MP0004885_abnormal_endolymph1.49848493
41MP0003879_abnormal_hair_cell1.45492884
42MP0003787_abnormal_imprinting1.44695156
43* MP0002066_abnormal_motor_capabilities/c1.43697160
44MP0001529_abnormal_vocalization1.39055517
45MP0002909_abnormal_adrenal_gland1.35940150
46MP0004142_abnormal_muscle_tone1.35583063
47MP0002152_abnormal_brain_morphology1.29600495
48MP0003122_maternal_imprinting1.29073101
49MP0004742_abnormal_vestibular_system1.23333037
50MP0003121_genomic_imprinting1.23120740
51MP0003633_abnormal_nervous_system1.22396925
52MP0005551_abnormal_eye_electrophysiolog1.22160789
53MP0001905_abnormal_dopamine_level1.20446353
54MP0003123_paternal_imprinting1.17016309
55MP0003631_nervous_system_phenotype1.09889134
56MP0008877_abnormal_DNA_methylation1.07889217
57MP0000569_abnormal_digit_pigmentation1.07099764
58MP0000631_abnormal_neuroendocrine_gland1.04573527
59MP0001986_abnormal_taste_sensitivity1.03409602
60MP0001188_hyperpigmentation1.03239892
61MP0005394_taste/olfaction_phenotype1.02272003
62MP0005499_abnormal_olfactory_system1.02272003
63MP0000751_myopathy0.99698124
64MP0002752_abnormal_somatic_nervous0.99587765
65MP0002229_neurodegeneration0.97753415
66MP0004145_abnormal_muscle_electrophysio0.95769289
67MP0001963_abnormal_hearing_physiology0.95006284
68MP0003634_abnormal_glial_cell0.93660287
69MP0002638_abnormal_pupillary_reflex0.92460834
70* MP0002069_abnormal_eating/drinking_beha0.91326369
71MP0010386_abnormal_urinary_bladder0.91118576
72MP0001348_abnormal_lacrimal_gland0.86950176
73MP0003632_abnormal_nervous_system0.86317994
74MP0003861_abnormal_nervous_system0.85246402
75MP0008872_abnormal_physiological_respon0.79928070
76MP0001177_atelectasis0.77532312
77MP0003690_abnormal_glial_cell0.77115419
78MP0002102_abnormal_ear_morphology0.76925847
79MP0001485_abnormal_pinna_reflex0.76115500
80MP0003137_abnormal_impulse_conducting0.74733030
81MP0002653_abnormal_ependyma_morphology0.74568247
82MP0004085_abnormal_heartbeat0.74307689
83MP0002090_abnormal_vision0.73398346
84MP0006292_abnormal_olfactory_placode0.72966756
85MP0000026_abnormal_inner_ear0.71915374
86MP0000920_abnormal_myelination0.71149764
87MP0008961_abnormal_basal_metabolism0.70693918
88MP0003938_abnormal_ear_development0.69244813
89MP0004215_abnormal_myocardial_fiber0.68815402
90MP0004130_abnormal_muscle_cell0.67016285
91MP0006072_abnormal_retinal_apoptosis0.66410508
92MP0008874_decreased_physiological_sensi0.64431001
93MP0002249_abnormal_larynx_morphology0.64413257
94MP0000604_amyloidosis0.64123342
95MP0004233_abnormal_muscle_weight0.63129028
96MP0005409_darkened_coat_color0.62642393
97MP0001943_abnormal_respiration0.61601791
98MP0001299_abnormal_eye_distance/0.61341242
99MP0005253_abnormal_eye_physiology0.60445453
100MP0010769_abnormal_survival0.60322445
101MP0004133_heterotaxia0.60228194
102MP0005187_abnormal_penis_morphology0.59951033
103MP0002751_abnormal_autonomic_nervous0.59796425
104MP0010770_preweaning_lethality0.59452073
105MP0002082_postnatal_lethality0.59452073
106MP0002081_perinatal_lethality0.59230320
107MP0001346_abnormal_lacrimal_gland0.58979438
108MP0001664_abnormal_digestion0.58880617
109MP0010768_mortality/aging0.56950249
110MP0003283_abnormal_digestive_organ0.56432408
111MP0002876_abnormal_thyroid_physiology0.56372483
112MP0000013_abnormal_adipose_tissue0.55712164
113MP0005167_abnormal_blood-brain_barrier0.53699362
114MP0003136_yellow_coat_color0.52413882
115* MP0003956_abnormal_body_size0.50450453
116MP0003119_abnormal_digestive_system0.49456755
117MP0004147_increased_porphyrin_level0.47499872

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.84085927
2Myokymia (HP:0002411)6.40986328
3Focal seizures (HP:0007359)5.40274510
4Epileptic encephalopathy (HP:0200134)5.03084856
5Visual hallucinations (HP:0002367)4.86123280
6Progressive cerebellar ataxia (HP:0002073)4.66907926
7Febrile seizures (HP:0002373)4.49182150
8Atonic seizures (HP:0010819)4.34870860
9Absence seizures (HP:0002121)3.89949878
10Action tremor (HP:0002345)3.84867100
11Broad-based gait (HP:0002136)3.65631070
12Dialeptic seizures (HP:0011146)3.55627054
13Generalized tonic-clonic seizures (HP:0002069)3.52225918
14Supranuclear gaze palsy (HP:0000605)3.47003202
15Ankle clonus (HP:0011448)3.42581215
16Peripheral hypomyelination (HP:0007182)3.41392939
17Hyperventilation (HP:0002883)3.36661217
18Annular pancreas (HP:0001734)3.26642524
19Gaze-evoked nystagmus (HP:0000640)3.14800155
20Mutism (HP:0002300)3.14147511
21Impaired vibration sensation in the lower limbs (HP:0002166)3.11824072
22Poor eye contact (HP:0000817)3.11501118
23Dysdiadochokinesis (HP:0002075)3.08214041
24Abnormal eating behavior (HP:0100738)3.05729547
25Depression (HP:0000716)2.99427722
26Amblyopia (HP:0000646)2.98082697
27Drooling (HP:0002307)2.94885721
28Excessive salivation (HP:0003781)2.94885721
29Genetic anticipation (HP:0003743)2.93818912
30Urinary bladder sphincter dysfunction (HP:0002839)2.90592718
31Truncal ataxia (HP:0002078)2.90354673
32Hemiparesis (HP:0001269)2.89414192
33Dysmetria (HP:0001310)2.84686129
34Polyphagia (HP:0002591)2.78265469
35Impaired social interactions (HP:0000735)2.75188468
36Abnormal social behavior (HP:0012433)2.75188468
37Abnormality of the lower motor neuron (HP:0002366)2.67402943
38Limb dystonia (HP:0002451)2.66479059
39Anxiety (HP:0000739)2.65795980
40Cerebral hypomyelination (HP:0006808)2.64201390
41Spastic gait (HP:0002064)2.62841063
42Degeneration of the lateral corticospinal tracts (HP:0002314)2.59022791
43Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.59022791
44Urinary urgency (HP:0000012)2.58377205
45Epileptiform EEG discharges (HP:0011182)2.56017228
46Megalencephaly (HP:0001355)2.54927422
47Abnormality of the corticospinal tract (HP:0002492)2.53834840
48Postural instability (HP:0002172)2.49991109
49Abnormality of binocular vision (HP:0011514)2.49658532
50Diplopia (HP:0000651)2.49658532
51Scanning speech (HP:0002168)2.49616806
52EEG with generalized epileptiform discharges (HP:0011198)2.47660376
53Progressive inability to walk (HP:0002505)2.46670167
54Fetal akinesia sequence (HP:0001989)2.45855188
55Impaired smooth pursuit (HP:0007772)2.44284229
56Neurofibrillary tangles (HP:0002185)2.41180566
57Absent speech (HP:0001344)2.37826867
58Cerebral inclusion bodies (HP:0100314)2.37247073
59Insidious onset (HP:0003587)2.35109644
60Termporal pattern (HP:0011008)2.35109644
61Hemiplegia (HP:0002301)2.34647436
62Hypsarrhythmia (HP:0002521)2.33619832
63Torticollis (HP:0000473)2.32606299
64Stereotypic behavior (HP:0000733)2.32319817
65Split foot (HP:0001839)2.25085558
66Lower limb muscle weakness (HP:0007340)2.20773026
67Focal dystonia (HP:0004373)2.19800059
68Amyotrophic lateral sclerosis (HP:0007354)2.19485829
69Intention tremor (HP:0002080)2.18197690
70Abnormality of ocular smooth pursuit (HP:0000617)2.18126582
71Agitation (HP:0000713)2.16920054
72Papilledema (HP:0001085)2.15759728
73Bradykinesia (HP:0002067)2.15756997
74Tetraplegia (HP:0002445)2.15114864
75Inability to walk (HP:0002540)2.13792038
76Hypoplasia of the corpus callosum (HP:0002079)2.12055805
77Neuronal loss in central nervous system (HP:0002529)2.11033063
78Spastic tetraplegia (HP:0002510)2.06668271
79Pheochromocytoma (HP:0002666)2.06098464
80Insomnia (HP:0100785)2.05975990
81Impaired vibratory sensation (HP:0002495)2.05268095
82Status epilepticus (HP:0002133)2.03962433
83Specific learning disability (HP:0001328)2.02344845
84Spinal canal stenosis (HP:0003416)2.01166189
85Gait imbalance (HP:0002141)2.00773948
86Dysmetric saccades (HP:0000641)1.99400904
87Spastic tetraparesis (HP:0001285)1.97651798
88Aplasia/Hypoplasia of the brainstem (HP:0007362)1.97312247
89Hypoplasia of the brainstem (HP:0002365)1.97312247
90Failure to thrive in infancy (HP:0001531)1.97279408
91Obstructive sleep apnea (HP:0002870)1.96391429
92Abnormality of salivation (HP:0100755)1.95681347
93Pointed chin (HP:0000307)1.95670506
94Generalized myoclonic seizures (HP:0002123)1.93550462
95Sleep apnea (HP:0010535)1.93546319
96CNS hypomyelination (HP:0003429)1.93536453
97Blue irides (HP:0000635)1.93154390
98Incomplete penetrance (HP:0003829)1.92872623
99Retinal dysplasia (HP:0007973)1.90882079
100Oligodactyly (hands) (HP:0001180)1.89994044
101Apathy (HP:0000741)1.89646639
102Craniofacial dystonia (HP:0012179)1.87683543
103Akinesia (HP:0002304)1.87569783
104Lissencephaly (HP:0001339)1.86973555
105Protruding tongue (HP:0010808)1.84792359
106Gait ataxia (HP:0002066)1.84381679
107Rapidly progressive (HP:0003678)1.79575087
108Aqueductal stenosis (HP:0002410)1.78946618
109Inappropriate behavior (HP:0000719)1.78740907
110Ventricular fibrillation (HP:0001663)1.78592793
111Turricephaly (HP:0000262)1.78367852
112Lower limb asymmetry (HP:0100559)1.78366450
113Esotropia (HP:0000565)1.77825573
114Hypoventilation (HP:0002791)1.76651304
115Narrow nasal bridge (HP:0000446)1.76484429
116Delusions (HP:0000746)1.75814617
117Morphological abnormality of the inner ear (HP:0011390)1.75620088
118Anomalous pulmonary venous return (HP:0010772)1.75403321
119Clonus (HP:0002169)1.73037598
120Morphological abnormality of the pyramidal tract (HP:0002062)1.72809802
121Ulnar claw (HP:0001178)1.72012230
122Diminished motivation (HP:0000745)1.69912494
123Autism (HP:0000717)1.69770206
124Paraplegia (HP:0010550)1.68995911

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.36783656
2NTRK33.85646153
3EPHA43.68459483
4MAP3K93.49953903
5CASK2.99838327
6MAP3K42.97790102
7MINK12.77590598
8NTRK22.68329761
9MAP2K72.60437161
10DAPK22.58582070
11PAK62.37278376
12TNIK1.93942749
13KSR11.89026884
14MAPK131.85342518
15MAP2K41.69577663
16MAP3K121.64157348
17CAMKK11.63229205
18PRPF4B1.60397592
19KSR21.57022617
20PRKD31.56714439
21CDK51.52804306
22NTRK11.49388283
23CDK191.49094429
24PLK21.47292105
25SIK21.44705406
26DAPK11.43893971
27PHKG21.42255622
28PHKG11.42255622
29TYRO31.34991493
30UHMK11.33022682
31PRKCG1.26052962
32GRK51.25947865
33PNCK1.22006046
34STK381.06958465
35RIPK41.05653779
36CDK181.02295355
37CCNB10.99918990
38DYRK1A0.99651955
39FES0.99189887
40SGK2230.98793375
41SGK4940.98793375
42CDK150.97943643
43CAMKK20.95663377
44CDK140.93977738
45CAMK2A0.93367235
46LATS20.93064389
47ARAF0.89279235
48CDK11A0.85672149
49STK110.84214996
50OXSR10.81676183
51PAK30.81243142
52CSNK1G20.79569048
53CAMK10.79145378
54SIK30.77348249
55DYRK1B0.74356550
56CAMK2B0.72067575
57MARK20.71799908
58SGK20.71735642
59MAPK120.70687089
60TAOK10.70595301
61RET0.69325331
62DYRK20.68957503
63BCR0.68953057
64LMTK20.65507026
65PINK10.63482030
66PTK2B0.62100319
67SGK10.59725648
68BRSK10.58838004
69PRKCZ0.57962894
70ERBB30.57479506
71MAP3K130.56946331
72RAF10.56673896
73MAP3K20.56565741
74PKN10.55508172
75PRKCH0.55432087
76PRKCE0.54769343
77CSNK1A1L0.51930720
78FGR0.51856461
79CAMK1G0.51204497
80SGK30.51028857
81FGFR20.49804998
82NME10.48174656
83ICK0.48140892
84MAP3K110.48033631
85ALK0.47487486
86ROCK20.47044316
87WNK30.46997456
88BMPR20.44913003
89FER0.44671355
90FYN0.44056752
91RPS6KA30.43756161
92CAMK40.43712997
93CDC42BPA0.43437878
94ERBB20.43319331
95RIPK10.39749167
96MAPK100.38331235
97NEK60.37813580
98DAPK30.37233810
99PDK10.37136574
100CAMK1D0.36406479
101MAPK80.35743458
102EPHA30.35374715
103LIMK10.35361000
104CAMK2D0.34683144
105CSNK1G10.34517666
106PDPK10.34434377
107CSNK1D0.34202796
108CAMK2G0.34146310
109CSNK1G30.33778190
110TNK20.33760414
111RPS6KA20.33211129
112ROCK10.32538542
113GSK3B0.30812880
114BRAF0.28886850
115EPHB10.27933016
116CSNK1E0.25671749
117WNK10.25450034
118PRKCB0.22810740
119PRKDC0.22690764
120MAPK90.21775243

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.99971541
2Synaptic vesicle cycle_Homo sapiens_hsa047213.43554084
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.78770851
4GABAergic synapse_Homo sapiens_hsa047272.77899060
5Circadian entrainment_Homo sapiens_hsa047132.70499034
6Glutamatergic synapse_Homo sapiens_hsa047242.65321230
7Olfactory transduction_Homo sapiens_hsa047402.64569518
8Morphine addiction_Homo sapiens_hsa050322.54936187
9Long-term potentiation_Homo sapiens_hsa047202.48437625
10Amphetamine addiction_Homo sapiens_hsa050312.24792403
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.15223135
12Dopaminergic synapse_Homo sapiens_hsa047282.14460399
13Salivary secretion_Homo sapiens_hsa049702.09085910
14Insulin secretion_Homo sapiens_hsa049111.98612170
15Cholinergic synapse_Homo sapiens_hsa047251.94485505
16Taste transduction_Homo sapiens_hsa047421.80506474
17Gastric acid secretion_Homo sapiens_hsa049711.79028117
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.74825471
19Long-term depression_Homo sapiens_hsa047301.73608315
20Serotonergic synapse_Homo sapiens_hsa047261.68577608
21Oxytocin signaling pathway_Homo sapiens_hsa049211.65822086
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65353004
23Renin secretion_Homo sapiens_hsa049241.61214829
24Calcium signaling pathway_Homo sapiens_hsa040201.52783267
25Axon guidance_Homo sapiens_hsa043601.51658242
26Cocaine addiction_Homo sapiens_hsa050301.47181544
27Collecting duct acid secretion_Homo sapiens_hsa049661.46478385
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43750054
29Gap junction_Homo sapiens_hsa045401.43262984
30GnRH signaling pathway_Homo sapiens_hsa049121.39480278
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32016860
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.30585756
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24263500
34cAMP signaling pathway_Homo sapiens_hsa040241.22335352
35Type II diabetes mellitus_Homo sapiens_hsa049301.14611812
36ErbB signaling pathway_Homo sapiens_hsa040121.13686836
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13237340
38Glioma_Homo sapiens_hsa052141.12547916
39Estrogen signaling pathway_Homo sapiens_hsa049151.11618062
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07496565
41Melanogenesis_Homo sapiens_hsa049161.06227879
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.04352150
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00900389
44Cardiac muscle contraction_Homo sapiens_hsa042600.98093575
45Phototransduction_Homo sapiens_hsa047440.90843621
46Vibrio cholerae infection_Homo sapiens_hsa051100.87803623
47Oocyte meiosis_Homo sapiens_hsa041140.86442420
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.84774843
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84461084
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.83008211
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.77845638
52Choline metabolism in cancer_Homo sapiens_hsa052310.76637626
53Pancreatic secretion_Homo sapiens_hsa049720.74028721
54MAPK signaling pathway_Homo sapiens_hsa040100.72731747
55Dorso-ventral axis formation_Homo sapiens_hsa043200.72006200
56Dilated cardiomyopathy_Homo sapiens_hsa054140.70686707
57Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69539059
58Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66955289
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65172273
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64476954
61Ras signaling pathway_Homo sapiens_hsa040140.64013836
62Thyroid hormone synthesis_Homo sapiens_hsa049180.63032944
63Endometrial cancer_Homo sapiens_hsa052130.62912982
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.62813228
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62757619
66Circadian rhythm_Homo sapiens_hsa047100.61971282
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.61894254
68Alcoholism_Homo sapiens_hsa050340.60612091
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.60038741
70VEGF signaling pathway_Homo sapiens_hsa043700.59813261
71Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.59439535
72Wnt signaling pathway_Homo sapiens_hsa043100.58987297
73Vitamin B6 metabolism_Homo sapiens_hsa007500.58051894
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57391667
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56308992
76Rap1 signaling pathway_Homo sapiens_hsa040150.55379131
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.55016139
78Renal cell carcinoma_Homo sapiens_hsa052110.54131765
79Hippo signaling pathway_Homo sapiens_hsa043900.52711487
80Notch signaling pathway_Homo sapiens_hsa043300.52524344
81Colorectal cancer_Homo sapiens_hsa052100.50745312
82Endocytosis_Homo sapiens_hsa041440.49875454
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48831968
84Inositol phosphate metabolism_Homo sapiens_hsa005620.46842177
85mTOR signaling pathway_Homo sapiens_hsa041500.46472889
86Glucagon signaling pathway_Homo sapiens_hsa049220.45499477
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43991267
88T cell receptor signaling pathway_Homo sapiens_hsa046600.41488077
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40233962
90Non-small cell lung cancer_Homo sapiens_hsa052230.39608400
91Nitrogen metabolism_Homo sapiens_hsa009100.39407809
92AMPK signaling pathway_Homo sapiens_hsa041520.39315628
93Prolactin signaling pathway_Homo sapiens_hsa049170.38949145
94Hedgehog signaling pathway_Homo sapiens_hsa043400.37983804
95Prion diseases_Homo sapiens_hsa050200.37489802
96Insulin signaling pathway_Homo sapiens_hsa049100.36329580
97Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36286410
98Regulation of autophagy_Homo sapiens_hsa041400.35711677
99Bile secretion_Homo sapiens_hsa049760.35212177
100Chemokine signaling pathway_Homo sapiens_hsa040620.34931237
101Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34830748
102Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.34573813
103Basal cell carcinoma_Homo sapiens_hsa052170.33087294
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.32891331
105Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32476748
106Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.31746729
107Ovarian steroidogenesis_Homo sapiens_hsa049130.31543852
108Alzheimers disease_Homo sapiens_hsa050100.30650867
109Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29582577
110Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29559095
111Type I diabetes mellitus_Homo sapiens_hsa049400.29224092

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