APBB1

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 Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.70327553
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.69355017
3synaptic vesicle exocytosis (GO:0016079)5.39098965
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.26233602
5locomotory exploration behavior (GO:0035641)5.05874335
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.03805799
7glutamate secretion (GO:0014047)4.98748383
8regulation of synaptic vesicle exocytosis (GO:2000300)4.92170318
9vocalization behavior (GO:0071625)4.80444954
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.70076618
11protein localization to synapse (GO:0035418)4.56783837
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.53463851
13neuron cell-cell adhesion (GO:0007158)4.44075777
14neuronal action potential propagation (GO:0019227)4.38502581
15regulation of synaptic vesicle transport (GO:1902803)4.31912380
16regulation of glutamate receptor signaling pathway (GO:1900449)4.27080974
17neurotransmitter secretion (GO:0007269)4.10449240
18regulation of neuronal synaptic plasticity (GO:0048168)4.08018628
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.06582805
20layer formation in cerebral cortex (GO:0021819)4.00066662
21establishment of mitochondrion localization (GO:0051654)3.96847012
22exploration behavior (GO:0035640)3.96123410
23regulation of long-term neuronal synaptic plasticity (GO:0048169)3.85939083
24dendritic spine morphogenesis (GO:0060997)3.82912486
25synaptic transmission, glutamatergic (GO:0035249)3.80853970
26regulation of synapse structural plasticity (GO:0051823)3.78582422
27glutamate receptor signaling pathway (GO:0007215)3.75110395
28neuron-neuron synaptic transmission (GO:0007270)3.70093808
29membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.67890369
30regulation of synapse maturation (GO:0090128)3.66872391
31neurotransmitter-gated ion channel clustering (GO:0072578)3.65536954
32amino acid import (GO:0043090)3.64912751
33pyrimidine nucleobase catabolic process (GO:0006208)3.62642579
34cellular potassium ion homeostasis (GO:0030007)3.61720589
35regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.60383738
36neuron recognition (GO:0008038)3.56575816
37long-term memory (GO:0007616)3.52631268
38synaptic vesicle endocytosis (GO:0048488)3.49140690
39positive regulation of membrane potential (GO:0045838)3.48947089
40neurotransmitter transport (GO:0006836)3.45787499
41regulation of excitatory postsynaptic membrane potential (GO:0060079)3.45132886
42positive regulation of synapse maturation (GO:0090129)3.44374950
43potassium ion homeostasis (GO:0055075)3.43911701
44gamma-aminobutyric acid transport (GO:0015812)3.41263669
45transmission of nerve impulse (GO:0019226)3.39680618
46regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.39667374
47regulation of neurotransmitter secretion (GO:0046928)3.38066863
48axon ensheathment in central nervous system (GO:0032291)3.36247898
49central nervous system myelination (GO:0022010)3.36247898
50activation of protein kinase A activity (GO:0034199)3.35847329
51positive regulation of dendritic spine morphogenesis (GO:0061003)3.33485512
52regulation of postsynaptic membrane potential (GO:0060078)3.31539722
53potassium ion import (GO:0010107)3.30138024
54axonal fasciculation (GO:0007413)3.30003769
55regulation of ARF protein signal transduction (GO:0032012)3.29248254
56gamma-aminobutyric acid signaling pathway (GO:0007214)3.29151367
57regulation of synaptic plasticity (GO:0048167)3.28146742
58long-term synaptic potentiation (GO:0060291)3.26362994
59neuromuscular synaptic transmission (GO:0007274)3.26343118
60sodium ion export (GO:0071436)3.26084056
61neuromuscular process controlling posture (GO:0050884)3.25139910
62cellular sodium ion homeostasis (GO:0006883)3.23112820
63regulation of dendritic spine morphogenesis (GO:0061001)3.22219471
64cerebellar Purkinje cell differentiation (GO:0021702)3.18496513
65establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.18300346
66mitochondrion transport along microtubule (GO:0047497)3.18300346
67presynaptic membrane organization (GO:0097090)3.17135473
68regulation of neurotransmitter transport (GO:0051588)3.16157014
69neuromuscular process controlling balance (GO:0050885)3.15230794
70dendrite morphogenesis (GO:0048813)3.15178001
71mating behavior (GO:0007617)3.14293778
72positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.13817986
73regulation of neurotransmitter levels (GO:0001505)3.13654211
74glycine transport (GO:0015816)3.12767164
75presynaptic membrane assembly (GO:0097105)3.12731764
76regulation of vesicle fusion (GO:0031338)3.12260579
77cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.11905330
78adult walking behavior (GO:0007628)3.10921085
79proline transport (GO:0015824)3.10456133
80negative regulation of synaptic transmission, GABAergic (GO:0032229)3.09395211
81membrane hyperpolarization (GO:0060081)3.09277685
82acidic amino acid transport (GO:0015800)3.09252891
83regulation of voltage-gated calcium channel activity (GO:1901385)3.09157774
84neuronal ion channel clustering (GO:0045161)3.07642754
85cell migration in hindbrain (GO:0021535)3.07603885
86regulation of synaptic transmission, glutamatergic (GO:0051966)3.07452312
87G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.07119005
88postsynaptic membrane organization (GO:0001941)3.06827809
89regulation of dendritic spine development (GO:0060998)3.06721758
90auditory behavior (GO:0031223)3.06595100
91cerebellar granule cell differentiation (GO:0021707)3.05617099
92positive regulation of synaptic transmission, GABAergic (GO:0032230)3.05348097
93establishment of synaptic vesicle localization (GO:0097480)3.04668546
94synaptic vesicle transport (GO:0048489)3.04668546
95positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.03182040
96cell communication by electrical coupling (GO:0010644)3.01355568
97L-amino acid import (GO:0043092)2.99948291
98nucleobase catabolic process (GO:0046113)2.98396999
99response to auditory stimulus (GO:0010996)2.93795594
100membrane depolarization (GO:0051899)2.92984988
101membrane depolarization during action potential (GO:0086010)2.92664965
102regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.91474888
103positive regulation of neurotransmitter transport (GO:0051590)2.91319828
104negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.90588750
105positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.90365468
106cell differentiation in hindbrain (GO:0021533)2.90023285
107regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.87404461
108innervation (GO:0060384)2.86998271
109positive regulation of neurotransmitter secretion (GO:0001956)2.86799876
110synapse assembly (GO:0007416)2.86585614
111learning (GO:0007612)2.83282787
112regulation of synaptic transmission (GO:0050804)2.83030761
113prepulse inhibition (GO:0060134)2.82926173
114positive regulation of dendritic spine development (GO:0060999)2.82677379
115behavioral response to cocaine (GO:0048148)2.82394938
116vesicle transport along microtubule (GO:0047496)2.82303320
117dendritic spine organization (GO:0097061)2.81948321
118synaptic transmission (GO:0007268)2.81873522

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.61918469
2GBX2_23144817_ChIP-Seq_PC3_Human3.34193711
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15252686
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10604591
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.08190004
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.81365463
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.81365463
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.73910151
9REST_21632747_ChIP-Seq_MESCs_Mouse2.71773215
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.63932465
11SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59378622
12RARB_27405468_Chip-Seq_BRAIN_Mouse2.58579317
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.58044417
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57179572
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55918932
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51824215
17DROSHA_22980978_ChIP-Seq_HELA_Human2.46324290
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.41082667
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.39723771
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.36571899
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.30163238
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.25811164
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.16352407
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.11041301
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.04896324
26IKZF1_21737484_ChIP-ChIP_HCT116_Human1.92884986
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.90555890
28RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.86881007
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.86733649
30EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.85547822
31AR_21572438_ChIP-Seq_LNCaP_Human1.69071941
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68053932
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.64231443
34TAF15_26573619_Chip-Seq_HEK293_Human1.60711642
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.57285515
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.54012515
37PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.49376099
38SMAD4_21799915_ChIP-Seq_A2780_Human1.45169487
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.40709786
40RING1B_27294783_Chip-Seq_ESCs_Mouse1.38265424
41RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.36537470
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.35105694
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35026782
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.32430314
45RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.30591573
46* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29689942
47ZFP57_27257070_Chip-Seq_ESCs_Mouse1.29299621
48NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28725538
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28579918
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27540402
51DNAJC2_21179169_ChIP-ChIP_NT2_Human1.27481506
52TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.26792453
53ZNF274_21170338_ChIP-Seq_K562_Hela1.25543318
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.22872763
55ZFP281_27345836_Chip-Seq_ESCs_Mouse1.22870550
56SOX2_21211035_ChIP-Seq_LN229_Gbm1.22520275
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21656475
58P300_19829295_ChIP-Seq_ESCs_Human1.20809887
59RING1B_27294783_Chip-Seq_NPCs_Mouse1.16921339
60WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16608698
61P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14492358
62TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14108649
63SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.13412617
64GATA1_26923725_Chip-Seq_HPCs_Mouse1.12316477
65AR_19668381_ChIP-Seq_PC3_Human1.11696408
66STAT3_23295773_ChIP-Seq_U87_Human1.11010041
67EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.10660260
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10377800
69RNF2_27304074_Chip-Seq_NSC_Mouse1.10162956
70* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.09555059
71AR_25329375_ChIP-Seq_VCAP_Human1.07422700
72SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06986705
73KDM2B_26808549_Chip-Seq_K562_Human1.05944067
74* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.05006121
75CDX2_19796622_ChIP-Seq_MESCs_Mouse1.04414796
76ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.03745065
77* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.02990330
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.02652413
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02579317
80TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02517570
81CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02127274
82EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.00131122
83SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99207292
84GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98247142
85TCF4_23295773_ChIP-Seq_U87_Human0.98234805
86VDR_22108803_ChIP-Seq_LS180_Human0.98047705
87TP53_20018659_ChIP-ChIP_R1E_Mouse0.97824240
88ARNT_22903824_ChIP-Seq_MCF-7_Human0.96615901
89OCT4_19829295_ChIP-Seq_ESCs_Human0.96291975
90OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94818543
91VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94544314
92AHR_22903824_ChIP-Seq_MCF-7_Human0.93988534
93YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93049399
94PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92958053
95SMAD3_21741376_ChIP-Seq_ESCs_Human0.92893464
96SRY_22984422_ChIP-ChIP_TESTIS_Rat0.92400450
97TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91993158
98PRDM14_20953172_ChIP-Seq_ESCs_Human0.91814440
99* CTCF_27219007_Chip-Seq_Bcells_Human0.90345009
100SMAD4_21741376_ChIP-Seq_HESCs_Human0.89929109
101ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88336836
102PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88273291
103RUNX2_22187159_ChIP-Seq_PCA_Human0.87793408
104* TET1_21490601_ChIP-Seq_MESCs_Mouse0.87757939
105IGF1R_20145208_ChIP-Seq_DFB_Human0.87525046
106KDM2B_26808549_Chip-Seq_SUP-B15_Human0.87251494
107NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85123749
108GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85036916
109POU3F2_20337985_ChIP-ChIP_501MEL_Human0.84480422
110LXR_22292898_ChIP-Seq_THP-1_Human0.82564819
111AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.82494742
112SMC4_20622854_ChIP-Seq_HELA_Human0.82491280
113UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.82385421
114SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.82287653
115CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.81860959
116ER_23166858_ChIP-Seq_MCF-7_Human0.81685334
117SMAD3_21741376_ChIP-Seq_HESCs_Human0.80716979
118DPY_21335234_ChIP-Seq_ESCs_Mouse0.79789530
119SMAD4_21741376_ChIP-Seq_EPCs_Human0.78150375
120SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.77662545
121KLF4_19829295_ChIP-Seq_ESCs_Human0.77505567
122FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.75958078
123TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.75199080
124RUNX1_26923725_Chip-Seq_HPCs_Mouse0.70070974
125SOX9_26525672_Chip-Seq_HEART_Mouse0.69805778
126LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.69473222
127* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.69298315

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.82914408
2MP0003880_abnormal_central_pattern5.03395971
3MP0003635_abnormal_synaptic_transmissio3.86833217
4MP0004270_analgesia3.74778358
5MP0009745_abnormal_behavioral_response3.15305272
6MP0002064_seizures3.09164660
7MP0005423_abnormal_somatic_nervous3.05380038
8* MP0002063_abnormal_learning/memory/cond3.04286374
9MP0009046_muscle_twitch2.93381225
10MP0002272_abnormal_nervous_system2.71791344
11MP0001968_abnormal_touch/_nociception2.69831560
12MP0002734_abnormal_mechanical_nocicepti2.63375792
13MP0002572_abnormal_emotion/affect_behav2.59042029
14MP0001486_abnormal_startle_reflex2.53082050
15MP0002822_catalepsy2.49297943
16MP0002735_abnormal_chemical_nociception2.11406778
17MP0002736_abnormal_nociception_after2.07004659
18MP0001440_abnormal_grooming_behavior2.06763308
19MP0003329_amyloid_beta_deposits2.01951166
20* MP0000778_abnormal_nervous_system1.93453929
21MP0001970_abnormal_pain_threshold1.93221497
22MP0002067_abnormal_sensory_capabilities1.92784644
23MP0002733_abnormal_thermal_nociception1.92701756
24MP0001501_abnormal_sleep_pattern1.92380608
25MP0008569_lethality_at_weaning1.91878040
26MP0009780_abnormal_chondrocyte_physiolo1.90419495
27MP0002184_abnormal_innervation1.84934107
28MP0001984_abnormal_olfaction1.73023215
29MP0004811_abnormal_neuron_physiology1.70665847
30MP0001529_abnormal_vocalization1.70621146
31MP0000955_abnormal_spinal_cord1.70558861
32MP0004924_abnormal_behavior1.70276462
33MP0005386_behavior/neurological_phenoty1.70276462
34MP0006276_abnormal_autonomic_nervous1.67947762
35MP0004885_abnormal_endolymph1.67877976
36MP0004858_abnormal_nervous_system1.65483773
37MP0002557_abnormal_social/conspecific_i1.64779090
38* MP0002882_abnormal_neuron_morphology1.57302987
39MP0004142_abnormal_muscle_tone1.52515916
40MP0002909_abnormal_adrenal_gland1.50942922
41MP0001905_abnormal_dopamine_level1.50706831
42MP0005551_abnormal_eye_electrophysiolog1.47785232
43MP0002066_abnormal_motor_capabilities/c1.45926245
44MP0000920_abnormal_myelination1.45236450
45MP0005646_abnormal_pituitary_gland1.43341647
46MP0001502_abnormal_circadian_rhythm1.38256084
47MP0003787_abnormal_imprinting1.36900792
48MP0005645_abnormal_hypothalamus_physiol1.34749234
49MP0003633_abnormal_nervous_system1.33315411
50MP0003879_abnormal_hair_cell1.32203147
51MP0003122_maternal_imprinting1.28758562
52MP0002229_neurodegeneration1.26402272
53MP0003123_paternal_imprinting1.23383758
54MP0000751_myopathy1.21693152
55MP0004742_abnormal_vestibular_system1.21508873
56MP0003634_abnormal_glial_cell1.20695830
57MP0003631_nervous_system_phenotype1.19826206
58MP0004145_abnormal_muscle_electrophysio1.16555757
59* MP0002152_abnormal_brain_morphology1.14353506
60MP0003121_genomic_imprinting1.03649741
61MP0002752_abnormal_somatic_nervous1.02386951
62MP0006072_abnormal_retinal_apoptosis1.02079558
63MP0003690_abnormal_glial_cell1.02020730
64MP0005394_taste/olfaction_phenotype1.01215633
65MP0005499_abnormal_olfactory_system1.01215633
66MP0003632_abnormal_nervous_system0.98290644
67MP0001963_abnormal_hearing_physiology0.90771958
68MP0002090_abnormal_vision0.90589689
69MP0002837_dystrophic_cardiac_calcinosis0.90531807
70MP0001485_abnormal_pinna_reflex0.89680279
71MP0002069_abnormal_eating/drinking_beha0.89140027
72MP0004085_abnormal_heartbeat0.89007998
73MP0001348_abnormal_lacrimal_gland0.87192860
74MP0000013_abnormal_adipose_tissue0.87060194
75MP0001986_abnormal_taste_sensitivity0.86637151
76MP0001188_hyperpigmentation0.85077675
77MP0010386_abnormal_urinary_bladder0.84900640
78MP0000631_abnormal_neuroendocrine_gland0.83990915
79MP0001346_abnormal_lacrimal_gland0.83321838
80MP0001177_atelectasis0.82832318
81MP0002638_abnormal_pupillary_reflex0.81417009
82MP0003137_abnormal_impulse_conducting0.81284544
83MP0000604_amyloidosis0.79646108
84MP0005253_abnormal_eye_physiology0.79399093
85MP0003283_abnormal_digestive_organ0.79186524
86MP0004043_abnormal_pH_regulation0.78871115
87MP0008872_abnormal_physiological_respon0.78563300
88MP0004215_abnormal_myocardial_fiber0.77528850
89MP0001299_abnormal_eye_distance/0.74069218
90MP0008877_abnormal_DNA_methylation0.71847953
91MP0004233_abnormal_muscle_weight0.71831912
92MP0004130_abnormal_muscle_cell0.71710247
93MP0008874_decreased_physiological_sensi0.69230175
94MP0002653_abnormal_ependyma_morphology0.68251137
95MP0005535_abnormal_body_temperature0.66361656
96MP0003938_abnormal_ear_development0.65195039
97* MP0003861_abnormal_nervous_system0.63046383
98MP0000747_muscle_weakness0.62551603
99MP0003075_altered_response_to0.60500881
100MP0001943_abnormal_respiration0.60415942
101MP0000566_synostosis0.60115045
102MP0008961_abnormal_basal_metabolism0.60062604
103MP0004133_heterotaxia0.59948565
104MP0001664_abnormal_digestion0.59946574
105MP0005195_abnormal_posterior_eye0.59631558
106MP0005409_darkened_coat_color0.59549646
107* MP0010769_abnormal_survival0.59496018
108MP0005167_abnormal_blood-brain_barrier0.58012353
109MP0004036_abnormal_muscle_relaxation0.56809902
110* MP0010770_preweaning_lethality0.56686337
111* MP0002082_postnatal_lethality0.56686337
112* MP0010768_mortality/aging0.56269951
113MP0005171_absent_coat_pigmentation0.55894679
114MP0000026_abnormal_inner_ear0.55666277
115MP0002751_abnormal_autonomic_nervous0.55396839
116MP0002249_abnormal_larynx_morphology0.50314249
117MP0004147_increased_porphyrin_level0.49461868
118* MP0003956_abnormal_body_size0.49034062
119MP0002081_perinatal_lethality0.47340072

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.82200796
2Focal motor seizures (HP:0011153)6.39871187
3Focal seizures (HP:0007359)5.01301668
4Visual hallucinations (HP:0002367)4.87146155
5Epileptic encephalopathy (HP:0200134)4.35829658
6Atonic seizures (HP:0010819)4.30350718
7Progressive cerebellar ataxia (HP:0002073)4.05413958
8Supranuclear gaze palsy (HP:0000605)3.99837783
9Action tremor (HP:0002345)3.87731499
10Ankle clonus (HP:0011448)3.84618862
11Febrile seizures (HP:0002373)3.74636187
12Absence seizures (HP:0002121)3.70116787
13Dialeptic seizures (HP:0011146)3.43885988
14Generalized tonic-clonic seizures (HP:0002069)3.38662931
15Neurofibrillary tangles (HP:0002185)3.35816021
16Dysmetria (HP:0001310)3.22580110
17Depression (HP:0000716)3.08463712
18Broad-based gait (HP:0002136)3.06961815
19Sleep apnea (HP:0010535)3.06036860
20Dysdiadochokinesis (HP:0002075)3.04638207
21Cerebral inclusion bodies (HP:0100314)3.03008592
22Annular pancreas (HP:0001734)3.02649272
23Spastic gait (HP:0002064)2.99395630
24Anxiety (HP:0000739)2.94053706
25Abnormality of the corticospinal tract (HP:0002492)2.93562546
26Obstructive sleep apnea (HP:0002870)2.92167768
27Impaired vibration sensation in the lower limbs (HP:0002166)2.91077139
28Gaze-evoked nystagmus (HP:0000640)2.84886521
29Pheochromocytoma (HP:0002666)2.84194019
30Termporal pattern (HP:0011008)2.82324044
31Insidious onset (HP:0003587)2.82324044
32Truncal ataxia (HP:0002078)2.81585392
33Abnormal eating behavior (HP:0100738)2.76982618
34Urinary bladder sphincter dysfunction (HP:0002839)2.76316659
35Poor eye contact (HP:0000817)2.73925643
36Scanning speech (HP:0002168)2.69393340
37Amblyopia (HP:0000646)2.69319714
38Mutism (HP:0002300)2.69260596
39Urinary urgency (HP:0000012)2.67936113
40Intention tremor (HP:0002080)2.67712978
41Megalencephaly (HP:0001355)2.63814542
42Hyperventilation (HP:0002883)2.62204629
43Status epilepticus (HP:0002133)2.61948800
44Degeneration of the lateral corticospinal tracts (HP:0002314)2.61845643
45Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.61845643
46Limb dystonia (HP:0002451)2.61145561
47Postural instability (HP:0002172)2.59891443
48Tetraplegia (HP:0002445)2.59651625
49Amyotrophic lateral sclerosis (HP:0007354)2.49258197
50Hemiparesis (HP:0001269)2.45707599
51Impaired social interactions (HP:0000735)2.44383198
52Abnormal social behavior (HP:0012433)2.44383198
53Torticollis (HP:0000473)2.44289645
54Neuroendocrine neoplasm (HP:0100634)2.41071406
55Lower limb muscle weakness (HP:0007340)2.38705582
56Progressive inability to walk (HP:0002505)2.33134655
57Drooling (HP:0002307)2.31329660
58Excessive salivation (HP:0003781)2.31329660
59Morphological abnormality of the pyramidal tract (HP:0002062)2.29624344
60Genetic anticipation (HP:0003743)2.27588299
61Ventricular fibrillation (HP:0001663)2.26552974
62Focal dystonia (HP:0004373)2.25657688
63Epileptiform EEG discharges (HP:0011182)2.24774124
64Abnormality of the lower motor neuron (HP:0002366)2.23280873
65Peripheral hypomyelination (HP:0007182)2.20141491
66EEG with generalized epileptiform discharges (HP:0011198)2.19738496
67Retinal dysplasia (HP:0007973)2.15693284
68Diplopia (HP:0000651)2.14231173
69Abnormality of binocular vision (HP:0011514)2.14231173
70Apathy (HP:0000741)2.13323831
71Bradykinesia (HP:0002067)2.12109374
72Hand muscle atrophy (HP:0009130)2.10535647
73Split foot (HP:0001839)2.09704244
74Clonus (HP:0002169)2.07598218
75Hypsarrhythmia (HP:0002521)2.06910670
76Impaired smooth pursuit (HP:0007772)2.06888461
77Polyphagia (HP:0002591)2.06358694
78Central scotoma (HP:0000603)2.05895315
79Spastic tetraplegia (HP:0002510)2.05289688
80Craniofacial dystonia (HP:0012179)2.02263681
81Fetal akinesia sequence (HP:0001989)2.02201792
82Delusions (HP:0000746)2.01884780
83CNS hypomyelination (HP:0003429)2.00162547
84Generalized myoclonic seizures (HP:0002123)1.97563586
85Agitation (HP:0000713)1.97231378
86Spastic tetraparesis (HP:0001285)1.96872122
87Gait imbalance (HP:0002141)1.96734466
88Papilledema (HP:0001085)1.95665508
89Stereotypic behavior (HP:0000733)1.95605258
90Insomnia (HP:0100785)1.94896658
91Absent speech (HP:0001344)1.93858318
92Diminished motivation (HP:0000745)1.92915633
93Specific learning disability (HP:0001328)1.91630675
94Lower limb amyotrophy (HP:0007210)1.90647429
95Failure to thrive in infancy (HP:0001531)1.90432537
96Rapidly progressive (HP:0003678)1.89613795
97Akinesia (HP:0002304)1.89564701
98Gait ataxia (HP:0002066)1.88781640
99Hemiplegia (HP:0002301)1.88517817
100Hypoplasia of the corpus callosum (HP:0002079)1.87986945
101Incomplete penetrance (HP:0003829)1.86540637
102Impaired vibratory sensation (HP:0002495)1.85320790
103Upper limb amyotrophy (HP:0009129)1.83699278
104Distal upper limb amyotrophy (HP:0007149)1.83699278
105Neuronal loss in central nervous system (HP:0002529)1.83669986
106Rigidity (HP:0002063)1.81994209
107Spinal canal stenosis (HP:0003416)1.81839902
108Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.81412009
109Increased circulating renin level (HP:0000848)1.81303773
110Psychosis (HP:0000709)1.79994768
111Aplasia involving bones of the extremities (HP:0009825)1.79621724
112Aplasia involving bones of the upper limbs (HP:0009823)1.79621724
113Aplasia of the phalanges of the hand (HP:0009802)1.79621724
114Thickened helices (HP:0000391)1.78874474
115Abnormality of ocular smooth pursuit (HP:0000617)1.78465845
116Turricephaly (HP:0000262)1.78309539
117Onion bulb formation (HP:0003383)1.76808934
118Inability to walk (HP:0002540)1.76056693
119Pointed chin (HP:0000307)1.75723115
120Abnormality of saccadic eye movements (HP:0000570)1.75226176
121Cerebral hypomyelination (HP:0006808)1.74727288
122Abnormal EKG (HP:0003115)1.74637974
123Choreoathetosis (HP:0001266)1.74378109
124Aplasia/Hypoplasia of the brainstem (HP:0007362)1.73682029

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA43.78151142
2NTRK33.68615719
3MAP3K93.53548773
4MARK13.10565349
5MAP3K42.69553111
6MINK12.59151883
7PAK62.47411443
8DAPK22.44890721
9MAP2K72.17106969
10CASK2.04790706
11KSR22.03886148
12NTRK12.01236588
13NTRK21.99853735
14PRKD31.95174213
15CDK191.89303469
16UHMK11.69865054
17OXSR11.64140165
18PRPF4B1.61163887
19CDK51.58316148
20PNCK1.53114647
21CAMKK11.52263150
22ARAF1.51974489
23MAP2K41.51762650
24STK391.48544427
25KSR11.45997403
26PLK21.45541900
27MAP3K121.45420670
28GRK51.42731198
29PHKG21.42670627
30PHKG11.42670627
31TNIK1.40568401
32MAPK131.38994531
33TYRO31.34833554
34DAPK11.19988666
35PRKCG1.14723870
36RIPK11.14435072
37CDK181.11051831
38CDK151.10053873
39CDK141.09581871
40RIPK41.06200796
41CAMK2B1.06064224
42CAMK2A1.05810265
43DYRK21.05628985
44MAP3K21.05034584
45PAK30.99404422
46STK380.99079548
47MAP3K130.97747063
48CDK11A0.97496681
49FES0.96742367
50CAMKK20.93971108
51BCR0.91978467
52PINK10.91897107
53CSNK1G20.91677224
54LMTK20.88883592
55PKN10.87561706
56SIK20.87355430
57WNK10.86877662
58STK110.86315899
59CAMK10.86141683
60MARK20.84208949
61MAPK120.82950820
62CAMK2D0.81936364
63PRKCH0.81507971
64LIMK10.81295743
65DYRK1A0.77900631
66TESK10.77828838
67MAPKAPK50.77107724
68ROCK20.75348847
69WNK40.73927794
70DYRK1B0.73744893
71PTK2B0.73090655
72MAP3K110.71789736
73RET0.70767781
74TAOK10.70393721
75CAMK2G0.68384420
76LATS20.67234995
77* SGK2230.66360620
78* SGK4940.66360620
79BRSK10.62881064
80NEK60.60819825
81CSNK1G30.60114757
82DAPK30.59292017
83PRKCE0.59214381
84PDPK10.58997751
85BMPR20.56946282
86SGK10.55921589
87FGR0.55565789
88FGFR20.54045534
89RAF10.53885376
90ALK0.53630990
91PRKCZ0.53360334
92NME10.52799538
93EPHA30.52491014
94PDK10.51589567
95FER0.48749181
96FYN0.48039856
97MAP3K10.47578554
98MAPK100.46318146
99CDC42BPA0.46087065
100SGK20.45391943
101BRAF0.44912876
102RPS6KA30.44879802
103ICK0.44171808
104CAMK1G0.43877098
105CSNK1A1L0.43695370
106TNK20.41448806
107WNK30.40245461
108CAMK40.39273942
109MAP4K20.38218603
110SGK30.38117942
111RPS6KA20.36858328
112PRKACA0.32884438
113ERBB20.30952801
114PRKD10.29750361
115PRKCA0.28649179
116ROCK10.28105517
117CSNK1G10.27968005
118PRKG10.27766261
119PRKAA10.27565985
120MAPK80.27343831

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.54539524
2Nicotine addiction_Homo sapiens_hsa050333.37254824
3Olfactory transduction_Homo sapiens_hsa047402.77157920
4GABAergic synapse_Homo sapiens_hsa047272.76386783
5Circadian entrainment_Homo sapiens_hsa047132.65809741
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.63590753
7Glutamatergic synapse_Homo sapiens_hsa047242.54283374
8Morphine addiction_Homo sapiens_hsa050322.49783259
9Long-term potentiation_Homo sapiens_hsa047202.36883832
10Amphetamine addiction_Homo sapiens_hsa050312.24779459
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23050897
12Dopaminergic synapse_Homo sapiens_hsa047282.15669284
13Salivary secretion_Homo sapiens_hsa049702.05709123
14Insulin secretion_Homo sapiens_hsa049112.00099606
15Cholinergic synapse_Homo sapiens_hsa047251.93710983
16Gastric acid secretion_Homo sapiens_hsa049711.83945750
17Collecting duct acid secretion_Homo sapiens_hsa049661.78275487
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.76611630
19Taste transduction_Homo sapiens_hsa047421.73000782
20Serotonergic synapse_Homo sapiens_hsa047261.71124447
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.68824332
22Long-term depression_Homo sapiens_hsa047301.68669347
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.67493847
24Cocaine addiction_Homo sapiens_hsa050301.60632316
25Renin secretion_Homo sapiens_hsa049241.58446092
26Oxytocin signaling pathway_Homo sapiens_hsa049211.56778231
27Gap junction_Homo sapiens_hsa045401.42797080
28Calcium signaling pathway_Homo sapiens_hsa040201.41730234
29GnRH signaling pathway_Homo sapiens_hsa049121.34899909
30Cardiac muscle contraction_Homo sapiens_hsa042601.32601646
31Axon guidance_Homo sapiens_hsa043601.30651518
32Phototransduction_Homo sapiens_hsa047441.29695080
33Vibrio cholerae infection_Homo sapiens_hsa051101.26283214
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.26247389
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25723214
36cAMP signaling pathway_Homo sapiens_hsa040241.18136181
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05966416
38Estrogen signaling pathway_Homo sapiens_hsa049151.04810769
39Type II diabetes mellitus_Homo sapiens_hsa049301.02792235
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99545411
41Melanogenesis_Homo sapiens_hsa049160.99207104
42cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98478641
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.97845277
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95808580
45ErbB signaling pathway_Homo sapiens_hsa040120.95263225
46Glioma_Homo sapiens_hsa052140.94353785
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.93051776
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.86914208
49Dilated cardiomyopathy_Homo sapiens_hsa054140.83476510
50Oxidative phosphorylation_Homo sapiens_hsa001900.83345736
51Pancreatic secretion_Homo sapiens_hsa049720.83314978
52Oocyte meiosis_Homo sapiens_hsa041140.82553378
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.82237911
54Vitamin B6 metabolism_Homo sapiens_hsa007500.81652587
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79540039
56Dorso-ventral axis formation_Homo sapiens_hsa043200.78307555
57Alzheimers disease_Homo sapiens_hsa050100.74152926
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.71226434
59Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.70737193
60Thyroid hormone synthesis_Homo sapiens_hsa049180.70475266
61Parkinsons disease_Homo sapiens_hsa050120.69379576
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.68456653
63Nitrogen metabolism_Homo sapiens_hsa009100.66774049
64Choline metabolism in cancer_Homo sapiens_hsa052310.66406614
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.64418289
66MAPK signaling pathway_Homo sapiens_hsa040100.63063303
67Endocytosis_Homo sapiens_hsa041440.62891198
68Alcoholism_Homo sapiens_hsa050340.62562042
69Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.62452537
70Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60884522
71Ras signaling pathway_Homo sapiens_hsa040140.60806938
72Renal cell carcinoma_Homo sapiens_hsa052110.59723974
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.59670286
74Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57888218
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51258517
76VEGF signaling pathway_Homo sapiens_hsa043700.50494048
77Neurotrophin signaling pathway_Homo sapiens_hsa047220.48908685
78Rap1 signaling pathway_Homo sapiens_hsa040150.48356570
79Inositol phosphate metabolism_Homo sapiens_hsa005620.47575449
80Prion diseases_Homo sapiens_hsa050200.47222660
81Arginine and proline metabolism_Homo sapiens_hsa003300.46910764
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46437523
83Hippo signaling pathway_Homo sapiens_hsa043900.46410563
84Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.46244997
85Ovarian steroidogenesis_Homo sapiens_hsa049130.44828759
86Glucagon signaling pathway_Homo sapiens_hsa049220.44171121
87AMPK signaling pathway_Homo sapiens_hsa041520.42797997
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42716621
89Circadian rhythm_Homo sapiens_hsa047100.41041347
90Regulation of autophagy_Homo sapiens_hsa041400.40641386
91Wnt signaling pathway_Homo sapiens_hsa043100.40517198
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40277931
93Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39671417
94Bile secretion_Homo sapiens_hsa049760.38615721
95Ether lipid metabolism_Homo sapiens_hsa005650.38289963
96Huntingtons disease_Homo sapiens_hsa050160.37994711
97Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.37293883
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.36789540
99Tight junction_Homo sapiens_hsa045300.36625314
100Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33310572
101Glycerophospholipid metabolism_Homo sapiens_hsa005640.33154078
102Insulin signaling pathway_Homo sapiens_hsa049100.32600745
103Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31951253
104mTOR signaling pathway_Homo sapiens_hsa041500.31550468
105Endometrial cancer_Homo sapiens_hsa052130.31110422
106Type I diabetes mellitus_Homo sapiens_hsa049400.30388711
107Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.30018360
108Hedgehog signaling pathway_Homo sapiens_hsa043400.29626332
109Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28702881
110beta-Alanine metabolism_Homo sapiens_hsa004100.27915009
1112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.26652658
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.26605034

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