BAALC

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 was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.61614683
2locomotory exploration behavior (GO:0035641)6.12598240
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.05577229
4glutamate secretion (GO:0014047)5.82540364
5synaptic vesicle exocytosis (GO:0016079)5.74216442
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.51246601
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.37812478
8vocalization behavior (GO:0071625)5.10142435
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.07598667
10cellular potassium ion homeostasis (GO:0030007)5.06485084
11L-amino acid import (GO:0043092)5.04632168
12central nervous system myelination (GO:0022010)5.03838267
13axon ensheathment in central nervous system (GO:0032291)5.03838267
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.97983922
15regulation of synaptic vesicle exocytosis (GO:2000300)4.97265135
16sodium ion export (GO:0071436)4.89453324
17regulation of glutamate receptor signaling pathway (GO:1900449)4.77158834
18presynaptic membrane organization (GO:0097090)4.70871203
19neuronal ion channel clustering (GO:0045161)4.56540313
20presynaptic membrane assembly (GO:0097105)4.56237570
21layer formation in cerebral cortex (GO:0021819)4.51144551
22regulation of neuronal synaptic plasticity (GO:0048168)4.50829671
23neurotransmitter secretion (GO:0007269)4.47641780
24neuronal action potential propagation (GO:0019227)4.46903978
25exploration behavior (GO:0035640)4.43134643
26regulation of synaptic vesicle transport (GO:1902803)4.41799932
27regulation of long-term neuronal synaptic plasticity (GO:0048169)4.30335780
28protein localization to synapse (GO:0035418)4.28793022
29ionotropic glutamate receptor signaling pathway (GO:0035235)4.24675534
30neurotransmitter-gated ion channel clustering (GO:0072578)4.23105493
31regulation of synapse structural plasticity (GO:0051823)4.21037515
32amino acid import (GO:0043090)4.13750520
33proline transport (GO:0015824)4.07688097
34cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.05713102
35gamma-aminobutyric acid transport (GO:0015812)4.00952240
36positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.99538996
37cell communication by electrical coupling (GO:0010644)3.91760029
38synaptic transmission, glutamatergic (GO:0035249)3.91121149
39regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.90994042
40positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.90786507
41dendritic spine morphogenesis (GO:0060997)3.88725847
42glutamate receptor signaling pathway (GO:0007215)3.86305539
43C4-dicarboxylate transport (GO:0015740)3.86005833
44establishment of mitochondrion localization (GO:0051654)3.84590757
45long-term memory (GO:0007616)3.82166168
46cerebellar granule cell differentiation (GO:0021707)3.80736181
47membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.75726873
48neuron cell-cell adhesion (GO:0007158)3.71773272
49regulation of synaptic plasticity (GO:0048167)3.67523349
50potassium ion import (GO:0010107)3.64876776
51neurotransmitter transport (GO:0006836)3.62424073
52positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.61433832
53long-term synaptic potentiation (GO:0060291)3.59544310
54positive regulation of membrane potential (GO:0045838)3.59433369
55mechanosensory behavior (GO:0007638)3.57776192
56neuron-neuron synaptic transmission (GO:0007270)3.56877101
57regulation of excitatory postsynaptic membrane potential (GO:0060079)3.55312914
58regulation of dendritic spine morphogenesis (GO:0061001)3.54240379
59response to auditory stimulus (GO:0010996)3.50780027
60alanine transport (GO:0032328)3.48348641
61negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.46589354
62axonal fasciculation (GO:0007413)3.46512971
63activation of protein kinase A activity (GO:0034199)3.45779184
64regulation of neurotransmitter levels (GO:0001505)3.44344966
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.41235002
66neuromuscular process controlling balance (GO:0050885)3.38918252
67regulation of postsynaptic membrane potential (GO:0060078)3.36142365
68positive regulation of neurotransmitter transport (GO:0051590)3.36141927
69cellular sodium ion homeostasis (GO:0006883)3.36112788
70regulation of neurotransmitter secretion (GO:0046928)3.28386287
71neuromuscular process controlling posture (GO:0050884)3.27829773
72regulation of ARF protein signal transduction (GO:0032012)3.26803903
73transmission of nerve impulse (GO:0019226)3.26167704
74potassium ion homeostasis (GO:0055075)3.25197315
75dendrite morphogenesis (GO:0048813)3.22101002
76regulation of vesicle fusion (GO:0031338)3.21688335
77synaptic vesicle endocytosis (GO:0048488)3.18449389
78acidic amino acid transport (GO:0015800)3.17805570
79response to histamine (GO:0034776)3.16943221
80pyrimidine nucleobase catabolic process (GO:0006208)3.16800884
81cerebellar Purkinje cell differentiation (GO:0021702)3.14540367
82mitochondrion transport along microtubule (GO:0047497)3.14233787
83establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.14233787
84negative regulation of synaptic transmission, GABAergic (GO:0032229)3.13375373
85positive regulation of potassium ion transmembrane transport (GO:1901381)3.10888601
86adult walking behavior (GO:0007628)3.10590607
87regulation of dendritic spine development (GO:0060998)3.09258321
88G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.08481817
89L-glutamate transport (GO:0015813)3.07180162
90positive regulation of dendritic spine morphogenesis (GO:0061003)3.06163465
91G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.05827218
92positive regulation of synaptic transmission (GO:0050806)3.05787607
93regulation of neurotransmitter transport (GO:0051588)3.04193213
94neuromuscular synaptic transmission (GO:0007274)3.03983611
95auditory behavior (GO:0031223)3.03949650
96gamma-aminobutyric acid signaling pathway (GO:0007214)3.01670534
97membrane repolarization (GO:0086009)2.99467504
98regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.99452329
99regulation of synaptic transmission (GO:0050804)2.98316262
100membrane depolarization (GO:0051899)2.98072335
101glycine transport (GO:0015816)2.96790429
102synapse assembly (GO:0007416)2.96422094
103positive regulation of dendritic spine development (GO:0060999)2.96336159
104regulation of synapse maturation (GO:0090128)2.94611955
105negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.93069841
106cell migration in hindbrain (GO:0021535)2.92946053
107regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.91139292
108postsynaptic membrane organization (GO:0001941)2.90347395
109membrane hyperpolarization (GO:0060081)2.90336613
110positive regulation of synapse maturation (GO:0090129)2.90270114
111neuron recognition (GO:0008038)2.88650921
112regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.86249375
113neurotransmitter uptake (GO:0001504)2.85505049
114regulation of voltage-gated calcium channel activity (GO:1901385)2.84278278
115dendritic spine organization (GO:0097061)2.83771291
116neuromuscular process (GO:0050905)2.82556017
117behavioral defense response (GO:0002209)2.82385668
118behavioral fear response (GO:0001662)2.82385668
119vesicle transport along microtubule (GO:0047496)2.81294884
120learning (GO:0007612)2.80580025
121positive regulation of neurotransmitter secretion (GO:0001956)2.80454142
122synaptic transmission (GO:0007268)2.80315634

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.87709291
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.16886520
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15536656
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.01522055
5GBX2_23144817_ChIP-Seq_PC3_Human2.84283827
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.81804896
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.81804896
8* RARB_27405468_Chip-Seq_BRAIN_Mouse2.71891973
9DROSHA_22980978_ChIP-Seq_HELA_Human2.70623884
10REST_21632747_ChIP-Seq_MESCs_Mouse2.68846721
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.65718851
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.63132577
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.62012289
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60068571
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.56718690
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52528496
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.33436345
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.33249487
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.29803815
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.27848313
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24893485
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.17286475
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.16652354
24AR_21572438_ChIP-Seq_LNCaP_Human2.13590620
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.02921173
26EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.94404752
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.78535466
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.71890927
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.62746360
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.53735603
31SMAD_19615063_ChIP-ChIP_OVARY_Human1.48433713
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.43575688
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43180117
34* SMAD4_21799915_ChIP-Seq_A2780_Human1.41808759
35NR3C1_23031785_ChIP-Seq_PC12_Mouse1.41357738
36* RING1B_27294783_Chip-Seq_ESCs_Mouse1.37444910
37DNAJC2_21179169_ChIP-ChIP_NT2_Human1.36741014
38GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.36711583
39TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.34905003
40RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.32406768
41ZFP281_18757296_ChIP-ChIP_E14_Mouse1.30927001
42* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.30702930
43WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.29744857
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29010030
45ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.28173883
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.27873079
47WT1_25993318_ChIP-Seq_PODOCYTE_Human1.27447843
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.26997683
49BP1_19119308_ChIP-ChIP_Hs578T_Human1.26880016
50* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25192974
51* AR_19668381_ChIP-Seq_PC3_Human1.25044979
52THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.23223094
53KDM2B_26808549_Chip-Seq_K562_Human1.21959203
54RXR_22108803_ChIP-Seq_LS180_Human1.21818733
55RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.21677448
56EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.18577273
57RNF2_27304074_Chip-Seq_NSC_Mouse1.17797774
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17291016
59AR_25329375_ChIP-Seq_VCAP_Human1.16749157
60TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14600688
61* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13182561
62EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.13173325
63GATA1_26923725_Chip-Seq_HPCs_Mouse1.13062903
64CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.12646686
65* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.11950359
66RING1B_27294783_Chip-Seq_NPCs_Mouse1.11429471
67P300_19829295_ChIP-Seq_ESCs_Human1.11224713
68TP53_16413492_ChIP-PET_HCT116_Human1.10772635
69GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10532333
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.09856277
71CTCF_27219007_Chip-Seq_Bcells_Human1.06089728
72TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.04257816
73PIAS1_25552417_ChIP-Seq_VCAP_Human1.04149585
74STAT3_23295773_ChIP-Seq_U87_Human1.03723557
75* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03504859
76ZFP281_27345836_Chip-Seq_ESCs_Mouse1.02839086
77YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01470366
78ZNF274_21170338_ChIP-Seq_K562_Hela1.00545693
79CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00294481
80TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99861247
81NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98874310
82OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98797280
83GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97452043
84CBX2_27304074_Chip-Seq_ESCs_Mouse0.96086746
85TET1_21490601_ChIP-Seq_MESCs_Mouse0.95969602
86ARNT_22903824_ChIP-Seq_MCF-7_Human0.95880441
87SMAD3_21741376_ChIP-Seq_ESCs_Human0.94455965
88KDM2B_26808549_Chip-Seq_SUP-B15_Human0.93834793
89TCF4_23295773_ChIP-Seq_U87_Human0.93280672
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92632606
91* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91943399
92TOP2B_26459242_ChIP-Seq_MCF-7_Human0.91414023
93SMAD4_21741376_ChIP-Seq_HESCs_Human0.90732475
94* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90600002
95P53_22127205_ChIP-Seq_FIBROBLAST_Human0.90086975
96ZFP57_27257070_Chip-Seq_ESCs_Mouse0.89766312
97VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89179227
98TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.88296864
99AHR_22903824_ChIP-Seq_MCF-7_Human0.88101697
100POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.87878434
101TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87878434
102SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.87773233
103ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.87251494
104PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.87225966
105TP53_18474530_ChIP-ChIP_U2OS_Human0.87048325
106SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86293885
107AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85315808
108TP53_20018659_ChIP-ChIP_R1E_Mouse0.84757729
109SMAD3_21741376_ChIP-Seq_HESCs_Human0.84750415
110PRDM14_20953172_ChIP-Seq_ESCs_Human0.83093867
111BCAT_22108803_ChIP-Seq_LS180_Human0.82046312
112OCT4_19829295_ChIP-Seq_ESCs_Human0.81485421
113RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.80957429
114TAF15_26573619_Chip-Seq_HEK293_Human0.80565576
115PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.77708647
116LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77622105
117DPY_21335234_ChIP-Seq_ESCs_Mouse0.76027246
118KLF4_19829295_ChIP-Seq_ESCs_Human0.74523317
119SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.73149554
120CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.72542003
121EGR1_19032775_ChIP-ChIP_M12_Human0.72250959
122ESR2_21235772_ChIP-Seq_MCF-7_Human0.71309215
123LXR_22292898_ChIP-Seq_THP-1_Human0.70965609
124SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.69434948

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.18442864
2MP0003635_abnormal_synaptic_transmissio4.28178017
3MP0003880_abnormal_central_pattern4.06626310
4MP0004270_analgesia3.83704016
5MP0002063_abnormal_learning/memory/cond3.37751582
6MP0009745_abnormal_behavioral_response3.33716346
7MP0002064_seizures3.31710292
8MP0009046_muscle_twitch3.19403931
9MP0001486_abnormal_startle_reflex2.91462666
10MP0002572_abnormal_emotion/affect_behav2.83398812
11MP0001968_abnormal_touch/_nociception2.78748215
12MP0005423_abnormal_somatic_nervous2.61051612
13MP0004858_abnormal_nervous_system2.53526120
14MP0002734_abnormal_mechanical_nocicepti2.53234551
15MP0002272_abnormal_nervous_system2.46754472
16MP0009780_abnormal_chondrocyte_physiolo2.41885515
17MP0008569_lethality_at_weaning2.40559646
18MP0001501_abnormal_sleep_pattern2.30575539
19MP0003329_amyloid_beta_deposits2.29299705
20MP0002822_catalepsy2.23251285
21MP0005646_abnormal_pituitary_gland2.20118873
22MP0002736_abnormal_nociception_after1.99152017
23MP0002733_abnormal_thermal_nociception1.98186513
24MP0004885_abnormal_endolymph1.97188808
25MP0001440_abnormal_grooming_behavior1.94358391
26MP0002909_abnormal_adrenal_gland1.92811047
27MP0002067_abnormal_sensory_capabilities1.86277758
28MP0001970_abnormal_pain_threshold1.81813561
29MP0002557_abnormal_social/conspecific_i1.73128961
30MP0004811_abnormal_neuron_physiology1.72925858
31MP0003690_abnormal_glial_cell1.65990853
32MP0000778_abnormal_nervous_system1.64362892
33MP0003633_abnormal_nervous_system1.63601078
34MP0002735_abnormal_chemical_nociception1.62030028
35MP0001502_abnormal_circadian_rhythm1.61162891
36MP0003123_paternal_imprinting1.59747052
37MP0004924_abnormal_behavior1.57746310
38MP0005386_behavior/neurological_phenoty1.57746310
39MP0000955_abnormal_spinal_cord1.51767662
40MP0003075_altered_response_to1.50591747
41MP0003879_abnormal_hair_cell1.42030658
42MP0002882_abnormal_neuron_morphology1.40802988
43MP0002184_abnormal_innervation1.40559294
44MP0002066_abnormal_motor_capabilities/c1.40004901
45MP0001984_abnormal_olfaction1.39240821
46MP0003631_nervous_system_phenotype1.37519729
47MP0002152_abnormal_brain_morphology1.15007024
48MP0004142_abnormal_muscle_tone1.14102670
49MP0003634_abnormal_glial_cell1.11483815
50MP0000604_amyloidosis1.09884000
51MP0002090_abnormal_vision1.08221176
52MP0003787_abnormal_imprinting1.07873479
53MP0005645_abnormal_hypothalamus_physiol1.07232071
54MP0008874_decreased_physiological_sensi1.07228518
55MP0000751_myopathy1.06869998
56MP0005623_abnormal_meninges_morphology1.05304577
57MP0001188_hyperpigmentation1.05274806
58MP0003632_abnormal_nervous_system1.04166020
59MP0001905_abnormal_dopamine_level1.03922891
60MP0008872_abnormal_physiological_respon1.03437685
61MP0006276_abnormal_autonomic_nervous0.97167716
62MP0003121_genomic_imprinting0.95423080
63MP0000920_abnormal_myelination0.94138460
64MP0001177_atelectasis0.94115315
65MP0002638_abnormal_pupillary_reflex0.94025314
66MP0001485_abnormal_pinna_reflex0.92640251
67MP0002069_abnormal_eating/drinking_beha0.90856902
68MP0002229_neurodegeneration0.87837663
69MP0001986_abnormal_taste_sensitivity0.87339101
70MP0004215_abnormal_myocardial_fiber0.83734823
71MP0000013_abnormal_adipose_tissue0.81762077
72MP0005551_abnormal_eye_electrophysiolog0.80713410
73MP0005167_abnormal_blood-brain_barrier0.80481064
74MP0004130_abnormal_muscle_cell0.80225297
75MP0008961_abnormal_basal_metabolism0.80138566
76MP0003646_muscle_fatigue0.79925792
77MP0005535_abnormal_body_temperature0.78903380
78MP0001963_abnormal_hearing_physiology0.78208931
79MP0004233_abnormal_muscle_weight0.77269412
80MP0004085_abnormal_heartbeat0.76158144
81MP0003172_abnormal_lysosome_physiology0.73842486
82MP0001299_abnormal_eye_distance/0.72624491
83MP0001529_abnormal_vocalization0.71640339
84MP0000026_abnormal_inner_ear0.68479779
85MP0003137_abnormal_impulse_conducting0.66622535
86MP0010386_abnormal_urinary_bladder0.66579784
87MP0003122_maternal_imprinting0.66452187
88MP0003303_peritoneal_inflammation0.65550545
89MP0003183_abnormal_peptide_metabolism0.64741416
90MP0005394_taste/olfaction_phenotype0.64723956
91MP0005499_abnormal_olfactory_system0.64723956
92MP0003283_abnormal_digestive_organ0.62331696
93MP0002752_abnormal_somatic_nervous0.61686061
94MP0000569_abnormal_digit_pigmentation0.61324676
95MP0003861_abnormal_nervous_system0.60840218
96MP0002653_abnormal_ependyma_morphology0.60798177
97MP0004145_abnormal_muscle_electrophysio0.60496508
98MP0005253_abnormal_eye_physiology0.60050092
99MP0005166_decreased_susceptibility_to0.59337719
100MP0004484_altered_response_of0.57754876
101MP0010234_abnormal_vibrissa_follicle0.57586781
102MP0000631_abnormal_neuroendocrine_gland0.55801038
103MP0004742_abnormal_vestibular_system0.55481956
104MP0004510_myositis0.55016317
105MP0010769_abnormal_survival0.54347348
106MP0001943_abnormal_respiration0.51059436
107MP0008877_abnormal_DNA_methylation0.50859253
108MP0002254_reproductive_system_inflammat0.50729221
109MP0000747_muscle_weakness0.50498048
110MP0004043_abnormal_pH_regulation0.49743096
111MP0002082_postnatal_lethality0.48290752
112MP0010770_preweaning_lethality0.48290752
113MP0004147_increased_porphyrin_level0.46331285
114MP0009278_abnormal_bone_marrow0.46326837
115MP0010768_mortality/aging0.46235741
116MP0009379_abnormal_foot_pigmentation0.44101518
117MP0003956_abnormal_body_size0.43113445
118MP0005595_abnormal_vascular_smooth0.42381445

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.84830989
2Myokymia (HP:0002411)7.13652275
3Focal seizures (HP:0007359)5.61253158
4Epileptic encephalopathy (HP:0200134)4.94319793
5Visual hallucinations (HP:0002367)4.87635948
6Megalencephaly (HP:0001355)4.80065559
7Action tremor (HP:0002345)4.46610391
8Progressive cerebellar ataxia (HP:0002073)4.39675496
9Absence seizures (HP:0002121)4.16732441
10Atonic seizures (HP:0010819)4.15151730
11Generalized tonic-clonic seizures (HP:0002069)4.07594572
12Peripheral hypomyelination (HP:0007182)3.88192218
13Febrile seizures (HP:0002373)3.78577845
14Dialeptic seizures (HP:0011146)3.77822218
15Limb dystonia (HP:0002451)3.60289738
16Papilledema (HP:0001085)3.57991594
17Dysdiadochokinesis (HP:0002075)3.57943760
18Supranuclear gaze palsy (HP:0000605)3.46209613
19Impaired vibration sensation in the lower limbs (HP:0002166)3.38796680
20Depression (HP:0000716)3.38085547
21Abnormal eating behavior (HP:0100738)3.32415820
22Ankle clonus (HP:0011448)3.31748782
23Poor eye contact (HP:0000817)3.26403247
24Postural instability (HP:0002172)3.25788458
25Neurofibrillary tangles (HP:0002185)3.17157516
26Gaze-evoked nystagmus (HP:0000640)3.15972519
27Urinary bladder sphincter dysfunction (HP:0002839)3.13645966
28Anxiety (HP:0000739)3.10577002
29Dysmetria (HP:0001310)3.08401590
30Genetic anticipation (HP:0003743)3.07176793
31Impaired social interactions (HP:0000735)3.06613294
32Abnormal social behavior (HP:0012433)3.06613294
33Truncal ataxia (HP:0002078)3.02068816
34Hemiplegia (HP:0002301)3.01567825
35Status epilepticus (HP:0002133)3.01524651
36Abnormality of the corticospinal tract (HP:0002492)2.96624493
37Broad-based gait (HP:0002136)2.96162594
38Diplopia (HP:0000651)2.88887066
39Abnormality of binocular vision (HP:0011514)2.88887066
40Cerebral inclusion bodies (HP:0100314)2.84320681
41Intention tremor (HP:0002080)2.83451974
42Apathy (HP:0000741)2.82375409
43Hyperventilation (HP:0002883)2.79657269
44Aplasia involving bones of the upper limbs (HP:0009823)2.79485982
45Aplasia of the phalanges of the hand (HP:0009802)2.79485982
46Aplasia involving bones of the extremities (HP:0009825)2.79485982
47Hemiparesis (HP:0001269)2.77867152
48Increased circulating renin level (HP:0000848)2.72904179
49Neuronal loss in central nervous system (HP:0002529)2.68544811
50Urinary urgency (HP:0000012)2.66055312
51Clumsiness (HP:0002312)2.64268026
52Cerebral hypomyelination (HP:0006808)2.63415079
53Diminished motivation (HP:0000745)2.62683885
54Stereotypic behavior (HP:0000733)2.58495413
55Impaired smooth pursuit (HP:0007772)2.57812927
56Sleep apnea (HP:0010535)2.54372754
57Torticollis (HP:0000473)2.52230015
58Bradykinesia (HP:0002067)2.49137785
59Mutism (HP:0002300)2.48822746
60Degeneration of the lateral corticospinal tracts (HP:0002314)2.47520227
61Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.47520227
62Impaired vibratory sensation (HP:0002495)2.44061709
63Amyotrophic lateral sclerosis (HP:0007354)2.43140626
64Annular pancreas (HP:0001734)2.42133240
65Amblyopia (HP:0000646)2.41772639
66Ventricular fibrillation (HP:0001663)2.41540727
67Focal dystonia (HP:0004373)2.40066518
68Dysmetric saccades (HP:0000641)2.38947973
69Spastic gait (HP:0002064)2.35431406
70Abnormality of ocular smooth pursuit (HP:0000617)2.34159639
71Akinesia (HP:0002304)2.32762647
72Generalized myoclonic seizures (HP:0002123)2.31794857
73Anomalous pulmonary venous return (HP:0010772)2.31771960
74Tetraplegia (HP:0002445)2.30269043
75Scanning speech (HP:0002168)2.29958249
76Split foot (HP:0001839)2.29468236
77Abnormality of the lower motor neuron (HP:0002366)2.28560701
78Delusions (HP:0000746)2.27223954
79Fetal akinesia sequence (HP:0001989)2.26106532
80Epileptiform EEG discharges (HP:0011182)2.24265579
81Excessive salivation (HP:0003781)2.24220323
82Drooling (HP:0002307)2.24220323
83Obstructive sleep apnea (HP:0002870)2.20851645
84Abnormality of the periventricular white matter (HP:0002518)2.20362259
85Spastic tetraparesis (HP:0001285)2.18066433
86EEG with generalized epileptiform discharges (HP:0011198)2.16860205
87Morphological abnormality of the pyramidal tract (HP:0002062)2.15905007
88Severe global developmental delay (HP:0011344)2.14835312
89Termporal pattern (HP:0011008)2.10097578
90Insidious onset (HP:0003587)2.10097578
91Hypsarrhythmia (HP:0002521)2.09670296
92Ankyloglossia (HP:0010296)2.07182607
93Rigidity (HP:0002063)2.06445823
94Bundle branch block (HP:0011710)2.06412074
95Pointed chin (HP:0000307)2.06099780
96Lower limb muscle weakness (HP:0007340)2.05126519
97Polyphagia (HP:0002591)2.04323732
98Progressive inability to walk (HP:0002505)2.03123781
99Failure to thrive in infancy (HP:0001531)2.02645685
100Craniofacial dystonia (HP:0012179)2.01331456
101Abnormality of the pulmonary veins (HP:0011718)2.00821072
102Pheochromocytoma (HP:0002666)2.00366124
103Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.97723582
104Gait ataxia (HP:0002066)1.94502624
105Inappropriate behavior (HP:0000719)1.92967539
106Lower limb asymmetry (HP:0100559)1.92935019
107Memory impairment (HP:0002354)1.91906319
108Spastic tetraplegia (HP:0002510)1.91416533
109Hypoplasia of the corpus callosum (HP:0002079)1.91068714
110Incomplete penetrance (HP:0003829)1.90587905
111CNS hypomyelination (HP:0003429)1.86818468
112Absent speech (HP:0001344)1.85143821
113Abnormality of saccadic eye movements (HP:0000570)1.83259202
114Insomnia (HP:0100785)1.82864680
115Spinal canal stenosis (HP:0003416)1.80436315
116Ulnar claw (HP:0001178)1.77980284
117Clonus (HP:0002169)1.77875497
118Abnormal EKG (HP:0003115)1.77605643
119Psychosis (HP:0000709)1.76701049
120Rapidly progressive (HP:0003678)1.74499115
121Bronchomalacia (HP:0002780)1.74403614
122Thickened helices (HP:0000391)1.74332851
123Dementia (HP:0000726)1.74128301
124Neoplasm of the peripheral nervous system (HP:0100007)1.71329211
125Neuroendocrine neoplasm (HP:0100634)1.70788441
126Postural tremor (HP:0002174)1.69053584
127Intellectual disability, profound (HP:0002187)1.69010935
128Agitation (HP:0000713)1.68765308
129Athetosis (HP:0002305)1.68388997

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.40358617
2NTRK34.07595679
3MAP3K93.70652683
4PRKD32.80011964
5MAP3K42.68208962
6MINK12.54451127
7DAPK22.54418364
8NTRK22.50112821
9PAK62.41571147
10KSR22.23726106
11MAP2K72.16512351
12CAMKK12.11136658
13MARK11.97113332
14NTRK11.92004542
15LMTK21.87692728
16CDK191.74396550
17MAP2K41.72372508
18CDK51.55978429
19PRPF4B1.55041289
20MAP3K121.52191882
21KSR11.50202772
22TRIB31.49271752
23RIPK41.46470671
24DAPK11.41013333
25STK381.36734455
26SGK21.36288787
27PLK21.35242369
28PKN11.33791332
29PHKG11.33292463
30PHKG21.33292463
31TNIK1.33186177
32SGK2231.32573465
33SGK4941.32573465
34TYRO31.29247243
35MAP3K131.28514768
36SGK31.27099073
37ARAF1.20647053
38MAP3K21.17333469
39TAOK11.15981333
40PRKCG1.13070034
41GRK51.07738489
42CAMK11.03838055
43CDK181.02840853
44CDK151.02211793
45MAP3K111.01234948
46CAMKK21.00884152
47CDK141.00480992
48PRKCH0.95616441
49DMPK0.93677367
50UHMK10.93376050
51SIK20.92685995
52DYRK20.92117789
53MAPK130.92045782
54LATS20.91996540
55CDK11A0.89550886
56FES0.89073734
57PINK10.88105566
58RET0.87445755
59MUSK0.87250845
60STK110.85673022
61CAMK2A0.83880189
62PDK10.82009789
63CASK0.80288780
64PAK30.79560725
65PDPK10.77005607
66RAF10.73957443
67NEK10.73605348
68ALK0.73513111
69RIPK10.72941864
70OXSR10.72782510
71CAMK2D0.71588934
72SGK10.67727010
73PTK2B0.67447331
74MAP3K70.62817590
75CAMK1G0.60110873
76DYRK1B0.58434338
77MAP3K10.56767359
78PNCK0.56063266
79TNK20.54191292
80MAPK40.53194634
81RPS6KA30.50078768
82DYRK1A0.48773169
83CAMK2B0.46307067
84EPHA30.45747514
85LIMK10.45295408
86CSNK1G20.44903579
87MAP2K10.44723775
88DDR20.44241097
89BRSK10.44130929
90MARK20.43335605
91CAMK40.43151239
92CCNB10.43063498
93MAPK120.42694601
94NEK60.42503010
95DAPK30.42325664
96CSNK1G30.41678693
97ICK0.41317730
98CDC42BPA0.40606620
99PRKG10.39522840
100PDGFRA0.38231605
101MAPK100.37635629
102BMPR20.37494939
103PRKCZ0.37365957
104FGFR20.36498610
105FYN0.35751589
106ROCK10.35556967
107BMX0.35497892
108PRKCE0.34520128
109CSNK1A1L0.34224794
110MOS0.33848334
111PRKCA0.33808128
112PRKACA0.33403122
113CAMK2G0.32793028
114BRAF0.32413927
115ABL20.32173822
116SRC0.31757338
117ERBB20.31186185
118CSNK1D0.30820309
119RPS6KA20.30624891
120SCYL20.29690800
121ROCK20.29520508
122ADRBK10.28530623

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009105.64454212
2Nicotine addiction_Homo sapiens_hsa050332.99111992
3Synaptic vesicle cycle_Homo sapiens_hsa047212.92846389
4GABAergic synapse_Homo sapiens_hsa047272.48097372
5Glutamatergic synapse_Homo sapiens_hsa047242.46181960
6Olfactory transduction_Homo sapiens_hsa047402.42668405
7Circadian entrainment_Homo sapiens_hsa047132.36165004
8Long-term potentiation_Homo sapiens_hsa047202.33412034
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25532635
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.19116437
11Morphine addiction_Homo sapiens_hsa050322.12930017
12Salivary secretion_Homo sapiens_hsa049702.11335807
13Amphetamine addiction_Homo sapiens_hsa050312.04540125
14Insulin secretion_Homo sapiens_hsa049111.98260199
15Gastric acid secretion_Homo sapiens_hsa049711.95861532
16Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.94728084
17Dopaminergic synapse_Homo sapiens_hsa047281.77146936
18Cholinergic synapse_Homo sapiens_hsa047251.71202537
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.62648118
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.58414961
21Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.50025758
22Cocaine addiction_Homo sapiens_hsa050301.43656973
23Oxytocin signaling pathway_Homo sapiens_hsa049211.42932544
24Long-term depression_Homo sapiens_hsa047301.36666055
25Calcium signaling pathway_Homo sapiens_hsa040201.33744360
26Renin secretion_Homo sapiens_hsa049241.30180116
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29224176
28GnRH signaling pathway_Homo sapiens_hsa049121.29158207
29Taste transduction_Homo sapiens_hsa047421.27904251
30Serotonergic synapse_Homo sapiens_hsa047261.26340565
31Fatty acid biosynthesis_Homo sapiens_hsa000611.19332480
32cAMP signaling pathway_Homo sapiens_hsa040241.17750957
33Glioma_Homo sapiens_hsa052141.16329341
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.12296377
35Gap junction_Homo sapiens_hsa045401.11704074
36Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.10553269
37Estrogen signaling pathway_Homo sapiens_hsa049151.07035225
38Dorso-ventral axis formation_Homo sapiens_hsa043201.04026150
39Type II diabetes mellitus_Homo sapiens_hsa049300.96580061
40ErbB signaling pathway_Homo sapiens_hsa040120.96096808
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.95153850
42Phospholipase D signaling pathway_Homo sapiens_hsa040720.94734732
43Melanogenesis_Homo sapiens_hsa049160.93362282
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.92598417
45Collecting duct acid secretion_Homo sapiens_hsa049660.91484930
46Phosphatidylinositol signaling system_Homo sapiens_hsa040700.90220087
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.89554501
48Phototransduction_Homo sapiens_hsa047440.86578633
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83416502
50Arginine biosynthesis_Homo sapiens_hsa002200.81248984
51Pancreatic secretion_Homo sapiens_hsa049720.81169420
52Thyroid hormone synthesis_Homo sapiens_hsa049180.80872780
53Axon guidance_Homo sapiens_hsa043600.80303295
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.80036816
55Vitamin B6 metabolism_Homo sapiens_hsa007500.79869025
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79606927
57Cardiac muscle contraction_Homo sapiens_hsa042600.75428765
58Vascular smooth muscle contraction_Homo sapiens_hsa042700.75059904
59Circadian rhythm_Homo sapiens_hsa047100.73045020
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72739377
61Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.72575816
62Neurotrophin signaling pathway_Homo sapiens_hsa047220.71176694
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.70495309
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70334389
65Bile secretion_Homo sapiens_hsa049760.69094124
66Oocyte meiosis_Homo sapiens_hsa041140.66976643
67Dilated cardiomyopathy_Homo sapiens_hsa054140.66531905
68Choline metabolism in cancer_Homo sapiens_hsa052310.64545445
69MAPK signaling pathway_Homo sapiens_hsa040100.64227615
70Glucagon signaling pathway_Homo sapiens_hsa049220.62014288
71VEGF signaling pathway_Homo sapiens_hsa043700.61785083
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.60000860
73Rap1 signaling pathway_Homo sapiens_hsa040150.57785872
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.56391698
75Ras signaling pathway_Homo sapiens_hsa040140.54424285
76Vibrio cholerae infection_Homo sapiens_hsa051100.52372628
77Endocytosis_Homo sapiens_hsa041440.51586553
78mTOR signaling pathway_Homo sapiens_hsa041500.47887332
79Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47724440
80Renal cell carcinoma_Homo sapiens_hsa052110.47627555
81Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45097584
82Endometrial cancer_Homo sapiens_hsa052130.44252486
83Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44243034
84Non-small cell lung cancer_Homo sapiens_hsa052230.44033808
85Insulin signaling pathway_Homo sapiens_hsa049100.42072715
86Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41857441
87Type I diabetes mellitus_Homo sapiens_hsa049400.41676948
88Salmonella infection_Homo sapiens_hsa051320.41004379
89Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.40543711
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38956051
91Prion diseases_Homo sapiens_hsa050200.37966423
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37307021
93Prolactin signaling pathway_Homo sapiens_hsa049170.33352411
94Ovarian steroidogenesis_Homo sapiens_hsa049130.33080166
95Wnt signaling pathway_Homo sapiens_hsa043100.31757176
96Inositol phosphate metabolism_Homo sapiens_hsa005620.31378491
97Alcoholism_Homo sapiens_hsa050340.31145926
98Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.30764499
99African trypanosomiasis_Homo sapiens_hsa051430.30467302
100Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.30090255
101Adipocytokine signaling pathway_Homo sapiens_hsa049200.29392123
102Chemokine signaling pathway_Homo sapiens_hsa040620.29064939
103SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28083694
104Rheumatoid arthritis_Homo sapiens_hsa053230.27664177
105Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26963159
106Butanoate metabolism_Homo sapiens_hsa006500.26312153
107Alzheimers disease_Homo sapiens_hsa050100.25907481
108Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25278463
109Regulation of actin cytoskeleton_Homo sapiens_hsa048100.25229839
110Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.24919697
111Arginine and proline metabolism_Homo sapiens_hsa003300.24683751
112Central carbon metabolism in cancer_Homo sapiens_hsa052300.24641941
113Histidine metabolism_Homo sapiens_hsa003400.24466029
114beta-Alanine metabolism_Homo sapiens_hsa004100.23893612
115Notch signaling pathway_Homo sapiens_hsa043300.22197131
116Phagosome_Homo sapiens_hsa041450.20513032
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.19938409

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