NBEA

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 a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.34100703
2vocalization behavior (GO:0071625)5.20069941
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.07945566
4neuron cell-cell adhesion (GO:0007158)4.97453706
5locomotory exploration behavior (GO:0035641)4.95855608
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.83098701
7ionotropic glutamate receptor signaling pathway (GO:0035235)4.80397499
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.76105632
9protein localization to synapse (GO:0035418)4.64700792
10pyrimidine nucleobase catabolic process (GO:0006208)4.63624158
11synaptic vesicle maturation (GO:0016188)4.56350754
12synaptic vesicle exocytosis (GO:0016079)4.45769846
13glutamate receptor signaling pathway (GO:0007215)4.45562701
14regulation of glutamate receptor signaling pathway (GO:1900449)4.43990135
15exploration behavior (GO:0035640)4.26119904
16synaptic transmission, glutamatergic (GO:0035249)4.21357092
17neuron recognition (GO:0008038)4.14719802
18glutamate secretion (GO:0014047)4.13882185
19regulation of synaptic vesicle exocytosis (GO:2000300)4.11869999
20dendritic spine morphogenesis (GO:0060997)4.11004524
21layer formation in cerebral cortex (GO:0021819)4.02483524
22regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.00858880
23regulation of long-term neuronal synaptic plasticity (GO:0048169)3.95456808
24axonal fasciculation (GO:0007413)3.94634257
25neuron-neuron synaptic transmission (GO:0007270)3.94075441
26nucleobase catabolic process (GO:0046113)3.84671713
27regulation of neuronal synaptic plasticity (GO:0048168)3.84615147
28presynaptic membrane assembly (GO:0097105)3.83776731
29regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.81497481
30synaptic vesicle docking involved in exocytosis (GO:0016081)3.79751386
31neurotransmitter-gated ion channel clustering (GO:0072578)3.76687540
32neuronal action potential propagation (GO:0019227)3.73427787
33regulation of excitatory postsynaptic membrane potential (GO:0060079)3.65618942
34regulation of synaptic vesicle transport (GO:1902803)3.64206741
35dendrite morphogenesis (GO:0048813)3.63019963
36postsynaptic membrane organization (GO:0001941)3.61372365
37long-term memory (GO:0007616)3.61040902
38G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.56829014
39regulation of synapse structural plasticity (GO:0051823)3.56821862
40neurotransmitter secretion (GO:0007269)3.55486268
41regulation of postsynaptic membrane potential (GO:0060078)3.54138275
42presynaptic membrane organization (GO:0097090)3.53378575
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.52777392
44positive regulation of synapse maturation (GO:0090129)3.52479410
45regulation of dendritic spine morphogenesis (GO:0061001)3.50104072
46transmission of nerve impulse (GO:0019226)3.44798816
47positive regulation of membrane potential (GO:0045838)3.42446696
48central nervous system projection neuron axonogenesis (GO:0021952)3.41685581
49gamma-aminobutyric acid transport (GO:0015812)3.39148634
50gamma-aminobutyric acid signaling pathway (GO:0007214)3.38645108
51cerebral cortex radially oriented cell migration (GO:0021799)3.34625032
52innervation (GO:0060384)3.25059227
53cell migration in hindbrain (GO:0021535)3.24116789
54regulation of synaptic transmission, glutamatergic (GO:0051966)3.23647392
55negative regulation of dendrite development (GO:2000171)3.22394619
56mechanosensory behavior (GO:0007638)3.19060648
57cerebellar Purkinje cell differentiation (GO:0021702)3.19047814
58synaptic vesicle endocytosis (GO:0048488)3.17740679
59positive regulation of dendritic spine morphogenesis (GO:0061003)3.17509388
60regulation of synaptic plasticity (GO:0048167)3.17457198
61proline transport (GO:0015824)3.17131990
62synapse assembly (GO:0007416)3.15599043
63regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.15180616
64cerebellar granule cell differentiation (GO:0021707)3.15038705
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.14066769
66behavioral fear response (GO:0001662)3.11418854
67behavioral defense response (GO:0002209)3.11418854
68long-term synaptic potentiation (GO:0060291)3.10868628
69cellular potassium ion homeostasis (GO:0030007)3.10071208
70auditory behavior (GO:0031223)3.09335905
71startle response (GO:0001964)3.09209169
72negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.05391075
73membrane depolarization (GO:0051899)3.03534210
74negative regulation of synaptic transmission, GABAergic (GO:0032229)3.03191625
75dendritic spine organization (GO:0097061)3.02581414
76membrane depolarization during action potential (GO:0086010)3.01872210
77regulation of dendritic spine development (GO:0060998)3.01342393
78positive regulation of dendritic spine development (GO:0060999)3.01328817
79regulation of neurotransmitter secretion (GO:0046928)3.01201954
80regulation of vesicle fusion (GO:0031338)3.01034890
81response to histamine (GO:0034776)3.00947213
82neurotransmitter transport (GO:0006836)3.00468549
83positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.98662145
84limb bud formation (GO:0060174)2.97753404
85membrane hyperpolarization (GO:0060081)2.97241330
86learning (GO:0007612)2.96949257
87fear response (GO:0042596)2.96040942
88positive regulation of synaptic transmission, GABAergic (GO:0032230)2.95567047
89negative regulation of cytosolic calcium ion concentration (GO:0051481)2.91916667
90retinal ganglion cell axon guidance (GO:0031290)2.91464979
91neuromuscular process controlling balance (GO:0050885)2.91402437
92response to auditory stimulus (GO:0010996)2.89374040
93synapse organization (GO:0050808)2.89046811
94adult walking behavior (GO:0007628)2.88452492
95regulation of synapse maturation (GO:0090128)2.88436998
96neuronal ion channel clustering (GO:0045161)2.87459314
97prepulse inhibition (GO:0060134)2.87398447
98positive regulation of synapse assembly (GO:0051965)2.86992807
99activation of protein kinase A activity (GO:0034199)2.86198484
100positive regulation of neurotransmitter secretion (GO:0001956)2.81512102
101G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.81048331
102vesicle transport along microtubule (GO:0047496)2.80399536
103central nervous system neuron axonogenesis (GO:0021955)2.80230598
104chemosensory behavior (GO:0007635)2.80112875
105organelle transport along microtubule (GO:0072384)2.79942983
106social behavior (GO:0035176)2.78766436
107intraspecies interaction between organisms (GO:0051703)2.78766436
108cochlea development (GO:0090102)2.76071175
109dendrite development (GO:0016358)2.74990804
110negative regulation of astrocyte differentiation (GO:0048712)2.73296423
111neuronal action potential (GO:0019228)2.73083516
112righting reflex (GO:0060013)2.70107876
113regulation of synapse assembly (GO:0051963)2.67027522
114establishment of nucleus localization (GO:0040023)2.65953401
115retinal cone cell development (GO:0046549)2.63369114
116protein localization to cilium (GO:0061512)2.62869678
117epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.61993923
118cilium movement (GO:0003341)2.55684183
119axonogenesis (GO:0007409)2.55281066
120retina layer formation (GO:0010842)2.54885274
121adult behavior (GO:0030534)2.54591334
122establishment of mitochondrion localization (GO:0051654)2.53214918
123detection of calcium ion (GO:0005513)2.50787411
124atrial cardiac muscle cell action potential (GO:0086014)2.50462490
125negative regulation of axon extension (GO:0030517)2.48166932
126regulation of axon guidance (GO:1902667)2.47977291
127cilium or flagellum-dependent cell motility (GO:0001539)2.47886907
128negative regulation of axonogenesis (GO:0050771)2.46422939
129membrane assembly (GO:0071709)2.44734678
130neuron migration (GO:0001764)2.41753693
131appendage development (GO:0048736)2.41060081
132limb development (GO:0060173)2.41060081

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.70875383
2GBX2_23144817_ChIP-Seq_PC3_Human3.89263956
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.90830207
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.87078365
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.83636567
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.49754280
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.49754280
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.46743430
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.45222881
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.40131046
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.38563926
12REST_21632747_ChIP-Seq_MESCs_Mouse2.34918974
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.32136999
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.27680897
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.24957187
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.23950078
17DROSHA_22980978_ChIP-Seq_HELA_Human2.23061281
18ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.15094887
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.11751727
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.09806398
21* RNF2_27304074_Chip-Seq_ESCs_Mouse2.08611051
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03701062
23RARB_27405468_Chip-Seq_BRAIN_Mouse2.01470945
24* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.92062252
25TAF15_26573619_Chip-Seq_HEK293_Human1.89485328
26AR_21572438_ChIP-Seq_LNCaP_Human1.88598590
27* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.82118470
28SALL1_21062744_ChIP-ChIP_HESCs_Human1.81635624
29* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.81191970
30* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.79462834
31REST_18959480_ChIP-ChIP_MESCs_Mouse1.76458450
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.76285803
33CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.75482158
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.75135966
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.63645789
36RBPJ_22232070_ChIP-Seq_NCS_Mouse1.62961810
37* P300_19829295_ChIP-Seq_ESCs_Human1.59773540
38ZNF274_21170338_ChIP-Seq_K562_Hela1.57475696
39EWS_26573619_Chip-Seq_HEK293_Human1.55185096
40FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.53542491
41IKZF1_21737484_ChIP-ChIP_HCT116_Human1.53493010
42* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.49854945
43* CBX2_27304074_Chip-Seq_ESCs_Mouse1.49496464
44IGF1R_20145208_ChIP-Seq_DFB_Human1.48592959
45* SMAD3_21741376_ChIP-Seq_EPCs_Human1.45149677
46RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43981082
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43533035
48BMI1_23680149_ChIP-Seq_NPCS_Mouse1.43485763
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43467007
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.43182310
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.43033060
52* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42829856
53* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.42362771
54HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.41801180
55* STAT3_23295773_ChIP-Seq_U87_Human1.38591434
56SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.37825413
57* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37237062
58* SOX2_21211035_ChIP-Seq_LN229_Gbm1.33664507
59CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32939440
60FUS_26573619_Chip-Seq_HEK293_Human1.32423122
61AR_25329375_ChIP-Seq_VCAP_Human1.31644025
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.31639009
63CBP_20019798_ChIP-Seq_JUKART_Human1.30804431
64IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.30804431
65* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.30371896
66* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.29383223
67EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.29253509
68NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28531115
69FLI1_27457419_Chip-Seq_LIVER_Mouse1.27003828
70* ARNT_22903824_ChIP-Seq_MCF-7_Human1.25447374
71RNF2_27304074_Chip-Seq_NSC_Mouse1.25217055
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.23750815
73RING1B_27294783_Chip-Seq_ESCs_Mouse1.23437887
74* TCF4_23295773_ChIP-Seq_U87_Human1.22581623
75LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21011336
76* AHR_22903824_ChIP-Seq_MCF-7_Human1.20735088
77* AR_19668381_ChIP-Seq_PC3_Human1.19125658
78TP53_16413492_ChIP-PET_HCT116_Human1.18221446
79TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17546928
80MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.16697802
81RING1B_27294783_Chip-Seq_NPCs_Mouse1.15990529
82STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.15344976
83YAP1_20516196_ChIP-Seq_MESCs_Mouse1.15177020
84EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.14663163
85SOX9_26525672_Chip-Seq_HEART_Mouse1.14268403
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13254870
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13254870
88KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.12935111
89NR3C1_21868756_ChIP-Seq_MCF10A_Human1.12846932
90* RUNX2_22187159_ChIP-Seq_PCA_Human1.12276978
91ERG_21242973_ChIP-ChIP_JURKAT_Human1.11427510
92* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10593136
93WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10539712
94P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09852660
95PCGF2_27294783_Chip-Seq_ESCs_Mouse1.09324614
96UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08982397
97KDM2B_26808549_Chip-Seq_REH_Human1.08732293
98VDR_22108803_ChIP-Seq_LS180_Human1.07984852
99ER_23166858_ChIP-Seq_MCF-7_Human1.07958228
100BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.07835665
101P53_22387025_ChIP-Seq_ESCs_Mouse1.06951403
102* NANOG_18555785_Chip-Seq_ESCs_Mouse1.05444023
103PRDM14_20953172_ChIP-Seq_ESCs_Human1.04868402
104SUZ12_27294783_Chip-Seq_NPCs_Mouse1.04709453
105TP53_18474530_ChIP-ChIP_U2OS_Human1.04210052
106TCF4_22108803_ChIP-Seq_LS180_Human1.03561180
107TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02478528
108MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01021391
109TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01003509
110VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.97624734
111BCAT_22108803_ChIP-Seq_LS180_Human0.97104327
112CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96579051
113RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.95730657
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.95650264
115JUN_21703547_ChIP-Seq_K562_Human0.95461645
116* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94728232
117* SMAD3_21741376_ChIP-Seq_ESCs_Human0.93569853
118E2F1_18555785_Chip-Seq_ESCs_Mouse0.92538767

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.86638163
2MP0003880_abnormal_central_pattern4.61995969
3* MP0003635_abnormal_synaptic_transmissio3.86925962
4* MP0004270_analgesia3.39055901
5MP0009745_abnormal_behavioral_response3.18965846
6MP0002063_abnormal_learning/memory/cond3.18850578
7MP0005423_abnormal_somatic_nervous2.84525458
8MP0002064_seizures2.82921417
9MP0009046_muscle_twitch2.72975567
10MP0002572_abnormal_emotion/affect_behav2.71856691
11MP0001968_abnormal_touch/_nociception2.70611653
12MP0001486_abnormal_startle_reflex2.52751637
13MP0002272_abnormal_nervous_system2.46012285
14* MP0002734_abnormal_mechanical_nocicepti2.45072039
15MP0000778_abnormal_nervous_system2.33495890
16MP0002735_abnormal_chemical_nociception2.29206227
17MP0002822_catalepsy2.23567155
18MP0001440_abnormal_grooming_behavior2.10394251
19MP0001501_abnormal_sleep_pattern2.06097725
20MP0009780_abnormal_chondrocyte_physiolo2.04874264
21MP0002736_abnormal_nociception_after2.03441488
22MP0002184_abnormal_innervation2.00675369
23MP0002067_abnormal_sensory_capabilities1.94274214
24MP0003787_abnormal_imprinting1.86572070
25MP0002733_abnormal_thermal_nociception1.86107393
26MP0002557_abnormal_social/conspecific_i1.80379738
27MP0001970_abnormal_pain_threshold1.77180593
28MP0006276_abnormal_autonomic_nervous1.76072770
29MP0004924_abnormal_behavior1.73588133
30MP0005386_behavior/neurological_phenoty1.73588133
31MP0001188_hyperpigmentation1.67464679
32MP0001984_abnormal_olfaction1.67209089
33MP0008877_abnormal_DNA_methylation1.65704041
34MP0008569_lethality_at_weaning1.65096062
35MP0004885_abnormal_endolymph1.63586155
36MP0004811_abnormal_neuron_physiology1.62933988
37MP0000955_abnormal_spinal_cord1.58827864
38MP0005645_abnormal_hypothalamus_physiol1.56787516
39* MP0002882_abnormal_neuron_morphology1.54647068
40MP0003329_amyloid_beta_deposits1.50662804
41MP0004858_abnormal_nervous_system1.49254618
42MP0005646_abnormal_pituitary_gland1.47722051
43MP0005551_abnormal_eye_electrophysiolog1.46975175
44MP0002909_abnormal_adrenal_gland1.45773780
45MP0001529_abnormal_vocalization1.42357002
46MP0005248_abnormal_Harderian_gland1.39304861
47* MP0002066_abnormal_motor_capabilities/c1.35784311
48MP0003879_abnormal_hair_cell1.30121181
49MP0001905_abnormal_dopamine_level1.27363044
50MP0003122_maternal_imprinting1.27159685
51MP0002751_abnormal_autonomic_nervous1.26292343
52MP0000569_abnormal_digit_pigmentation1.25237220
53MP0001502_abnormal_circadian_rhythm1.23632414
54MP0003890_abnormal_embryonic-extraembry1.22597382
55MP0004133_heterotaxia1.21742628
56* MP0002152_abnormal_brain_morphology1.21630366
57MP0004742_abnormal_vestibular_system1.17928413
58MP0003633_abnormal_nervous_system1.16996876
59MP0003119_abnormal_digestive_system1.15328115
60MP0005409_darkened_coat_color1.13651114
61MP0004145_abnormal_muscle_electrophysio1.12784361
62MP0000566_synostosis1.12717088
63MP0004142_abnormal_muscle_tone1.10284628
64MP0010386_abnormal_urinary_bladder1.09119770
65MP0002229_neurodegeneration1.05566356
66MP0005499_abnormal_olfactory_system1.04849924
67MP0005394_taste/olfaction_phenotype1.04849924
68MP0003631_nervous_system_phenotype1.04171569
69MP0006072_abnormal_retinal_apoptosis1.02682050
70MP0002752_abnormal_somatic_nervous0.99542432
71MP0003136_yellow_coat_color0.95827399
72MP0004085_abnormal_heartbeat0.91986663
73MP0001177_atelectasis0.91738412
74MP0002653_abnormal_ependyma_morphology0.91374678
75MP0003937_abnormal_limbs/digits/tail_de0.91050521
76MP0001963_abnormal_hearing_physiology0.90830097
77MP0003634_abnormal_glial_cell0.90769085
78MP0001299_abnormal_eye_distance/0.90249877
79* MP0000631_abnormal_neuroendocrine_gland0.89881487
80MP0002069_abnormal_eating/drinking_beha0.89520010
81MP0005187_abnormal_penis_morphology0.89391885
82MP0004043_abnormal_pH_regulation0.88896842
83MP0002938_white_spotting0.87386777
84MP0005171_absent_coat_pigmentation0.86482881
85MP0000920_abnormal_myelination0.86441122
86MP0000534_abnormal_ureter_morphology0.85230548
87MP0002837_dystrophic_cardiac_calcinosis0.84997909
88MP0003632_abnormal_nervous_system0.83906362
89MP0001485_abnormal_pinna_reflex0.83680083
90MP0003861_abnormal_nervous_system0.80885351
91MP0000751_myopathy0.78856508
92MP0005253_abnormal_eye_physiology0.78407136
93MP0000516_abnormal_urinary_system0.78381009
94MP0005367_renal/urinary_system_phenotyp0.78381009
95MP0000462_abnormal_digestive_system0.77774463
96MP0003283_abnormal_digestive_organ0.77682100
97MP0002638_abnormal_pupillary_reflex0.75518306
98MP0002233_abnormal_nose_morphology0.74774274
99MP0003137_abnormal_impulse_conducting0.74295741
100MP0004215_abnormal_myocardial_fiber0.72292536
101MP0002928_abnormal_bile_duct0.71732396
102MP0002082_postnatal_lethality0.71507273
103MP0010770_preweaning_lethality0.71507273
104MP0000026_abnormal_inner_ear0.69043899
105MP0002234_abnormal_pharynx_morphology0.67776050
106MP0003121_genomic_imprinting0.67469359
107MP0006292_abnormal_olfactory_placode0.67324684
108MP0003690_abnormal_glial_cell0.63786134
109MP0002090_abnormal_vision0.63635829
110MP0004484_altered_response_of0.63317712
111MP0000013_abnormal_adipose_tissue0.63229794
112MP0001943_abnormal_respiration0.62156433
113MP0005195_abnormal_posterior_eye0.61921478
114MP0002102_abnormal_ear_morphology0.61635045
115MP0008874_decreased_physiological_sensi0.59065182
116MP0008789_abnormal_olfactory_epithelium0.58945823
117MP0005623_abnormal_meninges_morphology0.57991060
118MP0008872_abnormal_physiological_respon0.57320964
119MP0002876_abnormal_thyroid_physiology0.56914069
120MP0005535_abnormal_body_temperature0.56420993

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.84168506
2Myokymia (HP:0002411)5.26133954
3Focal seizures (HP:0007359)5.22299146
4Epileptic encephalopathy (HP:0200134)4.55707584
5Visual hallucinations (HP:0002367)4.33004543
6Febrile seizures (HP:0002373)4.11630566
7Progressive cerebellar ataxia (HP:0002073)4.09514433
8Atonic seizures (HP:0010819)4.05109551
9Broad-based gait (HP:0002136)3.81536896
10Absence seizures (HP:0002121)3.67651106
11Hyperventilation (HP:0002883)3.62796464
12Action tremor (HP:0002345)3.49890147
13Dialeptic seizures (HP:0011146)3.43156321
14Generalized tonic-clonic seizures (HP:0002069)3.34185468
15Excessive salivation (HP:0003781)3.27691897
16Drooling (HP:0002307)3.27691897
17Supranuclear gaze palsy (HP:0000605)3.20606399
18Gaze-evoked nystagmus (HP:0000640)3.12149635
19Truncal ataxia (HP:0002078)2.98466650
20Pancreatic fibrosis (HP:0100732)2.93368700
21Poor eye contact (HP:0000817)2.91508418
22Amblyopia (HP:0000646)2.83495411
23Genetic anticipation (HP:0003743)2.80779575
24Dysdiadochokinesis (HP:0002075)2.79443976
25Chronic hepatic failure (HP:0100626)2.78650526
26Abnormality of the corticospinal tract (HP:0002492)2.77626337
27Neurofibrillary tangles (HP:0002185)2.75464731
28Mutism (HP:0002300)2.74069361
29Nephronophthisis (HP:0000090)2.73761154
30Dysmetria (HP:0001310)2.70692928
31Abnormality of midbrain morphology (HP:0002418)2.70579576
32Molar tooth sign on MRI (HP:0002419)2.70579576
33Cerebral inclusion bodies (HP:0100314)2.69327384
34Urinary bladder sphincter dysfunction (HP:0002839)2.69054455
35True hermaphroditism (HP:0010459)2.68726039
36Absent speech (HP:0001344)2.68633585
37Ankle clonus (HP:0011448)2.68585114
38Genital tract atresia (HP:0001827)2.65544235
39Epileptiform EEG discharges (HP:0011182)2.65169911
40Hemiparesis (HP:0001269)2.65096358
41Impaired vibration sensation in the lower limbs (HP:0002166)2.63685935
42Medial flaring of the eyebrow (HP:0010747)2.63301967
43Termporal pattern (HP:0011008)2.59852654
44Insidious onset (HP:0003587)2.59852654
45Abnormal social behavior (HP:0012433)2.58144793
46Impaired social interactions (HP:0000735)2.58144793
47EEG with generalized epileptiform discharges (HP:0011198)2.51841098
48Vaginal atresia (HP:0000148)2.51414436
49Pancreatic cysts (HP:0001737)2.51130687
50Hepatoblastoma (HP:0002884)2.46964121
51Scanning speech (HP:0002168)2.45277621
52Depression (HP:0000716)2.44956287
53Anxiety (HP:0000739)2.43597874
54Impaired smooth pursuit (HP:0007772)2.43436790
55Congenital primary aphakia (HP:0007707)2.40943139
56Hypsarrhythmia (HP:0002521)2.36763567
57Tubulointerstitial nephritis (HP:0001970)2.35088812
58Diplopia (HP:0000651)2.33290852
59Abnormality of binocular vision (HP:0011514)2.33290852
60Cutaneous finger syndactyly (HP:0010554)2.33011156
61Abnormality of the labia minora (HP:0012880)2.30507535
62Progressive inability to walk (HP:0002505)2.29326534
63Spastic gait (HP:0002064)2.27794207
64Blue irides (HP:0000635)2.27565656
65Abnormality of the renal medulla (HP:0100957)2.27317410
66Abnormal ciliary motility (HP:0012262)2.27218351
67Stereotypic behavior (HP:0000733)2.26328465
68Megalencephaly (HP:0001355)2.26295056
69Limb dystonia (HP:0002451)2.25805824
70Protruding tongue (HP:0010808)2.25604619
71Abnormality of salivation (HP:0100755)2.24811806
72Postural instability (HP:0002172)2.22723735
73Volvulus (HP:0002580)2.22065101
74Abnormal eating behavior (HP:0100738)2.21794953
75Nephrogenic diabetes insipidus (HP:0009806)2.21527341
76Intention tremor (HP:0002080)2.21086289
77Urinary urgency (HP:0000012)2.18736222
78Degeneration of the lateral corticospinal tracts (HP:0002314)2.18226660
79Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.18226660
80Inappropriate behavior (HP:0000719)2.15935869
81Papilledema (HP:0001085)2.14604593
82Aqueductal stenosis (HP:0002410)2.14307727
83Gait imbalance (HP:0002141)2.13780272
84Agitation (HP:0000713)2.11282292
85Amyotrophic lateral sclerosis (HP:0007354)2.10676355
86Fetal akinesia sequence (HP:0001989)2.10354564
87Abnormal respiratory motile cilium physiology (HP:0012261)2.08227092
88Intestinal atresia (HP:0011100)2.07657816
89Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.06553113
90Optic nerve hypoplasia (HP:0000609)2.06283496
91Abnormality of ocular smooth pursuit (HP:0000617)2.05834153
92Inability to walk (HP:0002540)2.05484591
93Pachygyria (HP:0001302)2.03807762
94Dynein arm defect of respiratory motile cilia (HP:0012255)2.03606631
95Absent/shortened dynein arms (HP:0200106)2.03606631
96Abnormal respiratory epithelium morphology (HP:0012253)2.03544811
97Abnormal respiratory motile cilium morphology (HP:0005938)2.03544811
98Postaxial hand polydactyly (HP:0001162)2.01355252
99Lissencephaly (HP:0001339)2.00673713
100Cystic liver disease (HP:0006706)1.99890279
101Lower limb muscle weakness (HP:0007340)1.99541294
102Exotropia (HP:0000577)1.97240828
103Widely spaced teeth (HP:0000687)1.97135983
104Renal hypoplasia (HP:0000089)1.95202461
105Astrocytoma (HP:0009592)1.94483152
106Abnormality of the astrocytes (HP:0100707)1.94483152
107Papillary thyroid carcinoma (HP:0002895)1.93650360
108Cutaneous syndactyly (HP:0012725)1.91056765
109Polyphagia (HP:0002591)1.89444315
110Torticollis (HP:0000473)1.87921549
111Akinesia (HP:0002304)1.87108792
112Pheochromocytoma (HP:0002666)1.86450438
113Retinal dysplasia (HP:0007973)1.86251985
114Bradykinesia (HP:0002067)1.85810690
115Hypoplasia of the brainstem (HP:0002365)1.85134330
116Aplasia/Hypoplasia of the brainstem (HP:0007362)1.85134330
117Poor coordination (HP:0002370)1.83033849
118Rhinitis (HP:0012384)1.82609282
119Narrow forehead (HP:0000341)1.82023174
120Aplasia/Hypoplasia of the tongue (HP:0010295)1.81970144
121Generalized myoclonic seizures (HP:0002123)1.81560713
122Abnormality of the lower motor neuron (HP:0002366)1.78394261
123Thickened helices (HP:0000391)1.77036375
124Aplasia of the phalanges of the hand (HP:0009802)1.75695356
125Aplasia involving bones of the extremities (HP:0009825)1.75695356
126Aplasia involving bones of the upper limbs (HP:0009823)1.75695356
127Lower limb amyotrophy (HP:0007210)1.73654142
128Postaxial foot polydactyly (HP:0001830)1.73193525
129Gastroesophageal reflux (HP:0002020)1.72820041
130Impaired vibratory sensation (HP:0002495)1.72736142
131Obstructive sleep apnea (HP:0002870)1.72365633
132Specific learning disability (HP:0001328)1.72355075
133Type II lissencephaly (HP:0007260)1.71798629
134Central scotoma (HP:0000603)1.71281985
135Hemiplegia (HP:0002301)1.70719257
136Generalized hypopigmentation of hair (HP:0011358)1.68858362
137Hypothermia (HP:0002045)1.68762253
138Aplasia/Hypoplasia of the tibia (HP:0005772)1.68433298
139Prolonged QT interval (HP:0001657)1.67990360
140Status epilepticus (HP:0002133)1.67777106
141Abnormality of the renal cortex (HP:0011035)1.66951439
142Gait ataxia (HP:0002066)1.66658501
143Short foot (HP:0001773)1.66492575
144Occipital encephalocele (HP:0002085)1.66043254
145Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.65982948
146Focal dystonia (HP:0004373)1.65279838
147Bony spicule pigmentary retinopathy (HP:0007737)1.64954332
148Spastic tetraplegia (HP:0002510)1.64653631
149Autism (HP:0000717)1.64585196
150Syncope (HP:0001279)1.64053023
151Incomplete penetrance (HP:0003829)1.63987626
152Abnormal EKG (HP:0003115)1.61824051
153Oligodactyly (hands) (HP:0001180)1.61736117
154Anencephaly (HP:0002323)1.61342079

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.60777894
2MARK14.44891350
3EPHA44.02517142
4FRK3.42227600
5MAP3K92.99725741
6MAP3K42.91534768
7CASK2.54211666
8MAP2K72.50894048
9MINK12.40292443
10NTRK22.13993936
11TNIK2.08105429
12MAPK131.94317512
13PNCK1.87258058
14DAPK21.85162422
15PAK61.82228836
16BMPR1B1.81185845
17KSR11.68192917
18RIPK41.64650355
19NTRK11.62195002
20MAP2K41.58414936
21PLK21.52563395
22PRPF4B1.50255227
23CDK51.48004251
24SIK21.47469059
25PRKD31.46373765
26KSR21.42464151
27MAP4K21.40859240
28MKNK21.29411339
29CAMKK11.23999006
30MAP3K121.23860563
31PHKG21.20619253
32PHKG11.20619253
33PRKCG1.12269828
34MAP3K21.11979156
35CAMK2A1.11697230
36DAPK11.10170684
37UHMK11.08081121
38CAMK2B1.05560466
39SGK2231.04975498
40SGK4941.04975498
41GRK51.04938488
42CSNK1G11.04498490
43BMPR21.04356840
44ERBB31.03297579
45CSNK1G21.00132438
46CAMK1G0.97661169
47FES0.97537077
48TRIM280.97466683
49ACVR1B0.96384676
50EPHA30.95260283
51STK38L0.94056832
52OXSR10.92777636
53SGK20.92179164
54STK380.89612394
55BCR0.87718838
56MARK20.85749745
57PAK30.85667342
58TYRO30.84357040
59CCNB10.83921462
60DYRK1A0.83096764
61STK110.82308202
62WNK30.81817836
63CAMKK20.80809612
64SGK10.80612445
65LATS20.78914768
66STK390.77619538
67CDK180.75316087
68CDK190.74288555
69AKT30.73134352
70MAPK150.72745298
71CDK140.72388192
72CDK150.72356277
73PRKCE0.71668014
74PKN10.71506558
75FGFR20.70362646
76CAMK10.69997262
77PTK2B0.69661213
78PRKCH0.69468291
79WNK10.68297021
80CAMK2D0.68118811
81RET0.68010959
82INSRR0.67898015
83GRK10.66067846
84SGK30.65517121
85ADRBK20.64935510
86YES10.64156725
87DYRK20.63880568
88EPHB20.62965110
89CDK11A0.60784124
90FGR0.59722677
91CSNK1A1L0.59072413
92CDC42BPA0.58634111
93PRKCZ0.55770043
94NEK60.54598655
95FER0.54478674
96BRD40.54274785
97DMPK0.54183934
98CAMK40.54181563
99MAP3K60.53487453
100ARAF0.52716805
101RAF10.51748106
102MAP3K130.51407751
103CDK30.50499280
104FYN0.48856637
105CSNK1D0.48346279
106CSNK1G30.48273105
107RPS6KA30.48088601
108MKNK10.47896530
109MAPK100.46242897
110CSNK1E0.45052969
111CSNK1A10.44186665
112NME10.43564451
113CAMK2G0.41140388
114PRKACA0.41122737
115PRKG10.41051095
116DYRK30.40512822
117PINK10.39921670
118ROCK10.39806997
119OBSCN0.39416139
120RPS6KA20.39199437
121TAOK10.39186861
122PRKACB0.39041205
123PRKCB0.37779766
124SIK30.37573848
125ROCK20.37524020
126PDPK10.36487346
127WNK40.36458664
128PRKAA10.35646011
129PRKDC0.34837540
130GSK3B0.33590112
131ERBB20.32951172
132MAPK80.32885125

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.78724624
2Circadian entrainment_Homo sapiens_hsa047132.70332236
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.69367912
4Glutamatergic synapse_Homo sapiens_hsa047242.67167741
5Long-term potentiation_Homo sapiens_hsa047202.64615418
6Synaptic vesicle cycle_Homo sapiens_hsa047212.61393536
7GABAergic synapse_Homo sapiens_hsa047272.57147906
8Olfactory transduction_Homo sapiens_hsa047402.47615321
9Morphine addiction_Homo sapiens_hsa050322.45676340
10Amphetamine addiction_Homo sapiens_hsa050312.41560478
11Dopaminergic synapse_Homo sapiens_hsa047282.19440915
12Salivary secretion_Homo sapiens_hsa049702.10310215
13Insulin secretion_Homo sapiens_hsa049112.00082742
14Taste transduction_Homo sapiens_hsa047421.97168849
15Cholinergic synapse_Homo sapiens_hsa047251.93638943
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.88663251
17Serotonergic synapse_Homo sapiens_hsa047261.87309776
18Long-term depression_Homo sapiens_hsa047301.82152753
19Phototransduction_Homo sapiens_hsa047441.81519859
20Renin secretion_Homo sapiens_hsa049241.80646177
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.73794773
22Cocaine addiction_Homo sapiens_hsa050301.73582985
23Gastric acid secretion_Homo sapiens_hsa049711.72137627
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.64719334
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.62118582
26Oxytocin signaling pathway_Homo sapiens_hsa049211.60291398
27Calcium signaling pathway_Homo sapiens_hsa040201.57131056
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.56998677
29Axon guidance_Homo sapiens_hsa043601.54400355
30Butanoate metabolism_Homo sapiens_hsa006501.43426650
31GnRH signaling pathway_Homo sapiens_hsa049121.40049369
32Gap junction_Homo sapiens_hsa045401.38945832
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.33541507
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.33440679
35cAMP signaling pathway_Homo sapiens_hsa040241.32899904
36Type II diabetes mellitus_Homo sapiens_hsa049301.28390842
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.22097147
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.19954103
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18500599
40Estrogen signaling pathway_Homo sapiens_hsa049151.17123465
41Collecting duct acid secretion_Homo sapiens_hsa049661.14958410
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13171846
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.12174513
44Melanogenesis_Homo sapiens_hsa049161.11864984
45ErbB signaling pathway_Homo sapiens_hsa040121.11028594
46Glioma_Homo sapiens_hsa052141.10720023
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.99566576
48Pancreatic secretion_Homo sapiens_hsa049720.93434513
49Dorso-ventral axis formation_Homo sapiens_hsa043200.90096723
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.86731846
51Cardiac muscle contraction_Homo sapiens_hsa042600.86354380
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.85278284
53Hippo signaling pathway_Homo sapiens_hsa043900.84685019
54Choline metabolism in cancer_Homo sapiens_hsa052310.83645483
55Dilated cardiomyopathy_Homo sapiens_hsa054140.81557469
56Vibrio cholerae infection_Homo sapiens_hsa051100.81493266
57Steroid biosynthesis_Homo sapiens_hsa001000.79436986
58Thyroid hormone synthesis_Homo sapiens_hsa049180.76884201
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.76642954
60Oocyte meiosis_Homo sapiens_hsa041140.76157591
61Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.75696014
62MAPK signaling pathway_Homo sapiens_hsa040100.75314889
63Basal cell carcinoma_Homo sapiens_hsa052170.74179902
64Ras signaling pathway_Homo sapiens_hsa040140.70166097
65Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.69621138
66Wnt signaling pathway_Homo sapiens_hsa043100.68680869
67Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.68392374
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67689554
69Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.67660237
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64421773
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.63238643
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62818996
73Endometrial cancer_Homo sapiens_hsa052130.61950445
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60407802
75Alcoholism_Homo sapiens_hsa050340.60340720
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.59391094
77Rap1 signaling pathway_Homo sapiens_hsa040150.59376426
78beta-Alanine metabolism_Homo sapiens_hsa004100.59128918
79Nitrogen metabolism_Homo sapiens_hsa009100.58844716
80Renal cell carcinoma_Homo sapiens_hsa052110.56618658
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.56371066
82VEGF signaling pathway_Homo sapiens_hsa043700.56312095
83Neurotrophin signaling pathway_Homo sapiens_hsa047220.56302974
84Propanoate metabolism_Homo sapiens_hsa006400.54857960
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.54822121
86Glucagon signaling pathway_Homo sapiens_hsa049220.54716464
87Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53968282
88Circadian rhythm_Homo sapiens_hsa047100.52195188
89Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.49553985
90Protein export_Homo sapiens_hsa030600.48438555
91Ovarian steroidogenesis_Homo sapiens_hsa049130.48209455
92Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.48007079
93Inositol phosphate metabolism_Homo sapiens_hsa005620.47913977
94Ether lipid metabolism_Homo sapiens_hsa005650.47278537
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47223365
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.47149906
97mTOR signaling pathway_Homo sapiens_hsa041500.45909884
98Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.45347054
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44577719
100ABC transporters_Homo sapiens_hsa020100.44116650
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43773819
102Colorectal cancer_Homo sapiens_hsa052100.43721334
103Fatty acid biosynthesis_Homo sapiens_hsa000610.43301374
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43084930
105Basal transcription factors_Homo sapiens_hsa030220.41322255
106Hedgehog signaling pathway_Homo sapiens_hsa043400.40660983
107Alzheimers disease_Homo sapiens_hsa050100.39374554
108Non-small cell lung cancer_Homo sapiens_hsa052230.39338886
109Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38601994
110Tryptophan metabolism_Homo sapiens_hsa003800.37612351
111African trypanosomiasis_Homo sapiens_hsa051430.37244220
112Lysine degradation_Homo sapiens_hsa003100.37206602
113Regulation of autophagy_Homo sapiens_hsa041400.36802701
114Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.36337245
115Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.36259672
116Endocytosis_Homo sapiens_hsa041440.35857108
117Prion diseases_Homo sapiens_hsa050200.34027064
118Tight junction_Homo sapiens_hsa045300.33606812
119Type I diabetes mellitus_Homo sapiens_hsa049400.33549364
120Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33224536
121Insulin signaling pathway_Homo sapiens_hsa049100.32879292
122Chemokine signaling pathway_Homo sapiens_hsa040620.28794092
123Melanoma_Homo sapiens_hsa052180.27793702
124Bile secretion_Homo sapiens_hsa049760.27180641

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