ACTL6B

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 a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.06379662
2nucleobase catabolic process (GO:0046113)5.83377082
3synaptic vesicle maturation (GO:0016188)5.72389916
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.46421831
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.38504073
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.36471248
7locomotory exploration behavior (GO:0035641)5.33562797
8vocalization behavior (GO:0071625)5.30157248
9synaptic vesicle exocytosis (GO:0016079)5.27413605
10regulation of synaptic vesicle exocytosis (GO:2000300)5.02265254
11regulation of glutamate receptor signaling pathway (GO:1900449)5.01140684
12glutamate secretion (GO:0014047)4.98678563
13protein localization to synapse (GO:0035418)4.88394815
14establishment of mitochondrion localization (GO:0051654)4.78908501
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.78718215
16neuron cell-cell adhesion (GO:0007158)4.68855265
17regulation of neuronal synaptic plasticity (GO:0048168)4.52096733
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.51578350
19regulation of synapse structural plasticity (GO:0051823)4.49030510
20regulation of synaptic vesicle transport (GO:1902803)4.48718436
21exploration behavior (GO:0035640)4.38717814
22neurotransmitter secretion (GO:0007269)4.31729061
23layer formation in cerebral cortex (GO:0021819)4.26131024
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.21918308
25synaptic transmission, glutamatergic (GO:0035249)4.20316174
26neurotransmitter-gated ion channel clustering (GO:0072578)4.16340938
27response to pheromone (GO:0019236)4.15910135
28regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.13125006
29neuron recognition (GO:0008038)4.07381831
30dendritic spine morphogenesis (GO:0060997)4.02499958
31neuronal action potential propagation (GO:0019227)4.02118341
32neuron-neuron synaptic transmission (GO:0007270)3.94786774
33positive regulation of synapse maturation (GO:0090129)3.91512516
34glutamate receptor signaling pathway (GO:0007215)3.91308404
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.87418045
36axonal fasciculation (GO:0007413)3.81740733
37cell migration in hindbrain (GO:0021535)3.71468978
38neurofilament cytoskeleton organization (GO:0060052)3.71410003
39gamma-aminobutyric acid transport (GO:0015812)3.70676698
40positive regulation of membrane potential (GO:0045838)3.68176609
41regulation of excitatory postsynaptic membrane potential (GO:0060079)3.68081186
42long-term memory (GO:0007616)3.66335100
43positive regulation of synaptic transmission, GABAergic (GO:0032230)3.65612325
44regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.63834517
45proline transport (GO:0015824)3.59600013
46auditory behavior (GO:0031223)3.58932751
47establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.58561753
48mitochondrion transport along microtubule (GO:0047497)3.58561753
49neuronal ion channel clustering (GO:0045161)3.54392874
50regulation of postsynaptic membrane potential (GO:0060078)3.51277238
51regulation of synaptic plasticity (GO:0048167)3.49033666
52positive regulation of synapse assembly (GO:0051965)3.48767532
53postsynaptic membrane organization (GO:0001941)3.47991122
54dendrite morphogenesis (GO:0048813)3.47750727
55regulation of dendritic spine morphogenesis (GO:0061001)3.45451259
56cerebellar Purkinje cell differentiation (GO:0021702)3.42774883
57neuromuscular synaptic transmission (GO:0007274)3.42297040
58regulation of neurotransmitter secretion (GO:0046928)3.42221024
59neurotransmitter transport (GO:0006836)3.41880267
60behavioral response to nicotine (GO:0035095)3.38329388
61positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.37741273
62pyrimidine nucleobase catabolic process (GO:0006208)3.37642309
63presynaptic membrane organization (GO:0097090)3.37160436
64transmission of nerve impulse (GO:0019226)3.33881169
65response to auditory stimulus (GO:0010996)3.33793554
66glycosphingolipid biosynthetic process (GO:0006688)3.32504584
67synaptic vesicle endocytosis (GO:0048488)3.29933209
68neuromuscular process controlling balance (GO:0050885)3.27508117
69regulation of vesicle fusion (GO:0031338)3.26117217
70positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.25788965
71regulation of synaptic transmission, glutamatergic (GO:0051966)3.23585364
72activation of protein kinase A activity (GO:0034199)3.23143339
73positive regulation of neurotransmitter secretion (GO:0001956)3.22033302
74regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.21749948
75regulation of synapse maturation (GO:0090128)3.19899061
76long-term synaptic potentiation (GO:0060291)3.19051724
77regulation of neurotransmitter levels (GO:0001505)3.19006458
78negative regulation of synaptic transmission, GABAergic (GO:0032229)3.17759232
79prepulse inhibition (GO:0060134)3.17282165
80positive regulation of neurotransmitter transport (GO:0051590)3.16762078
81cell communication by electrical coupling (GO:0010644)3.15956368
82membrane hyperpolarization (GO:0060081)3.15529209
83negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.14970314
84regulation of neurotransmitter transport (GO:0051588)3.14934314
85dopamine receptor signaling pathway (GO:0007212)3.14515892
86regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.14449686
87membrane depolarization during action potential (GO:0086010)3.12973768
88membrane depolarization (GO:0051899)3.12883144
89synapse organization (GO:0050808)3.12879293
90presynaptic membrane assembly (GO:0097105)3.12217618
91response to dietary excess (GO:0002021)3.12027546
92cellular potassium ion homeostasis (GO:0030007)3.12009643
93central nervous system projection neuron axonogenesis (GO:0021952)3.09785389
94cerebellar granule cell differentiation (GO:0021707)3.08170585
95innervation (GO:0060384)3.07896446
96mechanosensory behavior (GO:0007638)3.07520157
97positive regulation of dendritic spine development (GO:0060999)3.06888957
98learning (GO:0007612)3.06624208
99G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.06334030
100synapse assembly (GO:0007416)3.04702242
101gamma-aminobutyric acid signaling pathway (GO:0007214)3.04670727
102negative regulation of microtubule polymerization (GO:0031115)3.03286070
103positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.01940058
104behavioral defense response (GO:0002209)3.01875588
105behavioral fear response (GO:0001662)3.01875588
106establishment of synaptic vesicle localization (GO:0097480)3.00692232
107synaptic vesicle transport (GO:0048489)3.00692232
108dendritic spine organization (GO:0097061)3.00237622
109positive regulation of dendritic spine morphogenesis (GO:0061003)2.98733434
110adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.98230071
111organelle transport along microtubule (GO:0072384)2.97830620
112regulation of synapse assembly (GO:0051963)2.97643600
113hippocampus development (GO:0021766)2.97251294
114adult walking behavior (GO:0007628)2.96954880
115neuromuscular process controlling posture (GO:0050884)2.95341033
116sodium ion export (GO:0071436)2.95310369
117regulation of synaptic transmission (GO:0050804)2.95036654
118regulation of dendritic spine development (GO:0060998)2.94262179
119positive regulation of synaptic transmission (GO:0050806)2.92811001
120regulation of respiratory system process (GO:0044065)2.90100412
121synaptic transmission (GO:0007268)2.89603245
122startle response (GO:0001964)2.88435577
123establishment of vesicle localization (GO:0051650)2.87762932
124positive regulation of vesicle fusion (GO:0031340)2.79988753

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.40170650
2GBX2_23144817_ChIP-Seq_PC3_Human3.55627214
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.18984880
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07456604
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01013551
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.88695688
7EZH2_27304074_Chip-Seq_ESCs_Mouse2.77853744
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.77202867
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.77202867
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.76668471
11RARB_27405468_Chip-Seq_BRAIN_Mouse2.64587566
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.61335663
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60296932
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.56015565
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.55522513
16CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.55493383
17MTF2_20144788_ChIP-Seq_MESCs_Mouse2.48836953
18DROSHA_22980978_ChIP-Seq_HELA_Human2.47448887
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.46821790
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.46450668
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.43006498
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.39564826
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.38263123
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.31142041
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.07671900
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.01209871
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.99600994
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.96729095
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.81837652
30HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.81221192
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.70686874
32AR_21572438_ChIP-Seq_LNCaP_Human1.64312644
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.54502257
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54236669
35PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.54102293
36TAF15_26573619_Chip-Seq_HEK293_Human1.48929889
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.48632007
38SMAD4_21799915_ChIP-Seq_A2780_Human1.47486998
39BMI1_23680149_ChIP-Seq_NPCS_Mouse1.47039202
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.46144664
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43841821
42ZNF274_21170338_ChIP-Seq_K562_Hela1.42769418
43RING1B_27294783_Chip-Seq_ESCs_Mouse1.40966627
44ZFP57_27257070_Chip-Seq_ESCs_Mouse1.39661863
45* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.34977883
46RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.33718530
47IGF1R_20145208_ChIP-Seq_DFB_Human1.33317074
48DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31538633
49RNF2_27304074_Chip-Seq_NSC_Mouse1.29567843
50P300_19829295_ChIP-Seq_ESCs_Human1.26987256
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24969214
52TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.24202954
53RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23825378
54SOX2_21211035_ChIP-Seq_LN229_Gbm1.23449015
55RING1B_27294783_Chip-Seq_NPCs_Mouse1.22755597
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21702593
57FUS_26573619_Chip-Seq_HEK293_Human1.20331782
58ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19518344
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.18549598
60FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.18461640
61P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17622578
62AR_19668381_ChIP-Seq_PC3_Human1.15872349
63AR_25329375_ChIP-Seq_VCAP_Human1.15696351
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.13827125
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.12906157
66RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.11100806
67CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.10705874
68OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09497081
69STAT3_23295773_ChIP-Seq_U87_Human1.09458684
70GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08572925
71GATA1_26923725_Chip-Seq_HPCs_Mouse1.08202300
72WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06980271
73OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.06754084
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05709874
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04995740
76KDM2B_26808549_Chip-Seq_K562_Human1.04339900
77WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.03318326
78* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.01736983
79YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01452297
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00404492
81TCF4_23295773_ChIP-Seq_U87_Human0.97652458
82CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96475264
83PIAS1_25552417_ChIP-Seq_VCAP_Human0.95738272
84* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.95471657
85VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.95360610
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94664910
87SMAD3_21741376_ChIP-Seq_ESCs_Human0.94230799
88TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93458974
89POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93458974
90ARNT_22903824_ChIP-Seq_MCF-7_Human0.93340280
91IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.92765725
92CBP_20019798_ChIP-Seq_JUKART_Human0.92765725
93RUNX2_22187159_ChIP-Seq_PCA_Human0.92357022
94MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91253870
95SMAD4_21741376_ChIP-Seq_HESCs_Human0.91185541
96TP53_22573176_ChIP-Seq_HFKS_Human0.90221990
97TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90208030
98TET1_21490601_ChIP-Seq_MESCs_Mouse0.89856794
99CTCF_27219007_Chip-Seq_Bcells_Human0.89018142
100NR3C1_21868756_ChIP-Seq_MCF10A_Human0.88817981
101SOX9_26525672_Chip-Seq_HEART_Mouse0.88431872
102ZNF217_24962896_ChIP-Seq_MCF-7_Human0.87935289
103NANOG_18555785_Chip-Seq_ESCs_Mouse0.87692778
104TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.87549464
105PRDM14_20953172_ChIP-Seq_ESCs_Human0.87467587
106LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87123347
107KLF5_20875108_ChIP-Seq_MESCs_Mouse0.86773433
108AHR_22903824_ChIP-Seq_MCF-7_Human0.86386693
109KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.86381201
110POU3F2_20337985_ChIP-ChIP_501MEL_Human0.85817056
111TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84986877
112SMAD_19615063_ChIP-ChIP_OVARY_Human0.84764331
113ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.84293391
114TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.83922669
115JUN_21703547_ChIP-Seq_K562_Human0.83231155
116UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.82458496
117TAL1_26923725_Chip-Seq_HPCs_Mouse0.82380102
118AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.82252571
119TP53_20018659_ChIP-ChIP_R1E_Mouse0.82205079
120ETV2_25802403_ChIP-Seq_MESCs_Mouse0.80956822

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.29238514
2MP0003880_abnormal_central_pattern4.80028814
3MP0003635_abnormal_synaptic_transmissio3.99137557
4MP0004270_analgesia3.76971423
5MP0005423_abnormal_somatic_nervous3.70485866
6MP0002063_abnormal_learning/memory/cond3.32333848
7MP0009745_abnormal_behavioral_response3.23662713
8MP0002822_catalepsy3.07768310
9MP0001968_abnormal_touch/_nociception3.07546789
10MP0002064_seizures2.94033934
11MP0009046_muscle_twitch2.74499595
12MP0002572_abnormal_emotion/affect_behav2.72611526
13MP0002734_abnormal_mechanical_nocicepti2.69576359
14MP0002735_abnormal_chemical_nociception2.51467533
15MP0001486_abnormal_startle_reflex2.45498511
16MP0002272_abnormal_nervous_system2.42387891
17MP0002733_abnormal_thermal_nociception2.29130073
18MP0002736_abnormal_nociception_after2.27939352
19MP0006276_abnormal_autonomic_nervous2.22303670
20MP0000778_abnormal_nervous_system2.19414087
21MP0001970_abnormal_pain_threshold2.10563888
22MP0001440_abnormal_grooming_behavior2.03762916
23MP0001501_abnormal_sleep_pattern2.00902286
24MP0002184_abnormal_innervation2.00736010
25MP0004811_abnormal_neuron_physiology1.91551103
26MP0009780_abnormal_chondrocyte_physiolo1.90834031
27MP0002557_abnormal_social/conspecific_i1.88618791
28MP0002067_abnormal_sensory_capabilities1.87115458
29MP0005645_abnormal_hypothalamus_physiol1.84297279
30MP0005646_abnormal_pituitary_gland1.78804112
31MP0001984_abnormal_olfaction1.76663907
32MP0002909_abnormal_adrenal_gland1.76041793
33MP0004924_abnormal_behavior1.72900870
34MP0005386_behavior/neurological_phenoty1.72900870
35MP0008569_lethality_at_weaning1.71531792
36MP0000955_abnormal_spinal_cord1.68660433
37MP0003787_abnormal_imprinting1.68112009
38MP0004858_abnormal_nervous_system1.66306205
39MP0001529_abnormal_vocalization1.63634247
40MP0003122_maternal_imprinting1.63404528
41MP0003329_amyloid_beta_deposits1.52330599
42* MP0002882_abnormal_neuron_morphology1.48020783
43MP0003879_abnormal_hair_cell1.42264856
44MP0001502_abnormal_circadian_rhythm1.39636504
45* MP0002066_abnormal_motor_capabilities/c1.38652429
46MP0008877_abnormal_DNA_methylation1.36638619
47MP0002102_abnormal_ear_morphology1.36585783
48MP0004885_abnormal_endolymph1.33744744
49MP0010386_abnormal_urinary_bladder1.32691569
50MP0001905_abnormal_dopamine_level1.27804288
51MP0001188_hyperpigmentation1.24702161
52MP0004142_abnormal_muscle_tone1.17710039
53MP0002152_abnormal_brain_morphology1.16545187
54MP0003633_abnormal_nervous_system1.14796439
55MP0000569_abnormal_digit_pigmentation1.13521499
56MP0008789_abnormal_olfactory_epithelium1.05827809
57MP0002069_abnormal_eating/drinking_beha1.05809890
58MP0005394_taste/olfaction_phenotype0.99909362
59MP0005499_abnormal_olfactory_system0.99909362
60MP0003631_nervous_system_phenotype0.98851605
61MP0000631_abnormal_neuroendocrine_gland0.97155370
62MP0004147_increased_porphyrin_level0.96689581
63MP0003123_paternal_imprinting0.92370149
64MP0002638_abnormal_pupillary_reflex0.92134993
65MP0008961_abnormal_basal_metabolism0.91960510
66MP0005253_abnormal_eye_physiology0.90539227
67MP0008995_early_reproductive_senescence0.90047963
68MP0005187_abnormal_penis_morphology0.88420355
69MP0004742_abnormal_vestibular_system0.88343996
70MP0002229_neurodegeneration0.87812369
71MP0002752_abnormal_somatic_nervous0.84085327
72MP0004085_abnormal_heartbeat0.84012909
73MP0008872_abnormal_physiological_respon0.82689349
74MP0003183_abnormal_peptide_metabolism0.82046145
75MP0005551_abnormal_eye_electrophysiolog0.80804190
76MP0000751_myopathy0.80218565
77MP0003283_abnormal_digestive_organ0.80034765
78MP0000013_abnormal_adipose_tissue0.79223955
79MP0003634_abnormal_glial_cell0.77348509
80MP0001177_atelectasis0.76790557
81MP0003137_abnormal_impulse_conducting0.76576149
82MP0001963_abnormal_hearing_physiology0.76426012
83MP0008874_decreased_physiological_sensi0.73623191
84MP0004145_abnormal_muscle_electrophysio0.72725675
85MP0002751_abnormal_autonomic_nervous0.72162412
86MP0003938_abnormal_ear_development0.71616278
87MP0002653_abnormal_ependyma_morphology0.71495410
88MP0000049_abnormal_middle_ear0.71276137
89MP0005535_abnormal_body_temperature0.70815013
90* MP0003861_abnormal_nervous_system0.69104552
91MP0003632_abnormal_nervous_system0.68884497
92MP0001664_abnormal_digestion0.68763875
93MP0003121_genomic_imprinting0.68640476
94MP0002876_abnormal_thyroid_physiology0.68052700
95MP0002234_abnormal_pharynx_morphology0.67527519
96MP0000026_abnormal_inner_ear0.66678819
97MP0003690_abnormal_glial_cell0.66584246
98MP0001986_abnormal_taste_sensitivity0.66394980
99MP0006292_abnormal_olfactory_placode0.65166411
100MP0004133_heterotaxia0.62127699
101MP0005409_darkened_coat_color0.61481126
102MP0006072_abnormal_retinal_apoptosis0.59639430
103MP0001485_abnormal_pinna_reflex0.58291517
104MP0001943_abnormal_respiration0.58152441
105MP0004215_abnormal_myocardial_fiber0.58014788
106MP0004043_abnormal_pH_regulation0.57825682
107MP0002837_dystrophic_cardiac_calcinosis0.56304672
108MP0000604_amyloidosis0.54981135
109MP0003075_altered_response_to0.54521430
110* MP0010769_abnormal_survival0.53997721
111* MP0002082_postnatal_lethality0.53516975
112* MP0010770_preweaning_lethality0.53516975
113MP0001299_abnormal_eye_distance/0.51496983
114* MP0010768_mortality/aging0.51138444
115MP0003956_abnormal_body_size0.50902453

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.18096690
2Focal motor seizures (HP:0011153)7.17206400
3Focal seizures (HP:0007359)5.57081569
4Visual hallucinations (HP:0002367)4.96900033
5Epileptic encephalopathy (HP:0200134)4.87617015
6Febrile seizures (HP:0002373)4.23421442
7Progressive cerebellar ataxia (HP:0002073)4.01559290
8Atonic seizures (HP:0010819)3.98093926
9Absence seizures (HP:0002121)3.69570841
10Supranuclear gaze palsy (HP:0000605)3.67476663
11Ankle clonus (HP:0011448)3.66018814
12Generalized tonic-clonic seizures (HP:0002069)3.50661877
13Dialeptic seizures (HP:0011146)3.49223302
14Broad-based gait (HP:0002136)3.48336650
15Abnormal eating behavior (HP:0100738)3.47341598
16Action tremor (HP:0002345)3.45236390
17Poor eye contact (HP:0000817)3.37354621
18Limb dystonia (HP:0002451)3.23176225
19Amblyopia (HP:0000646)3.19143198
20Impaired vibration sensation in the lower limbs (HP:0002166)3.18717128
21Depression (HP:0000716)3.12649620
22Abnormality of the lower motor neuron (HP:0002366)3.02855158
23Mutism (HP:0002300)3.00630814
24Polyphagia (HP:0002591)2.97052183
25Impaired social interactions (HP:0000735)2.96553751
26Abnormal social behavior (HP:0012433)2.96553751
27Anxiety (HP:0000739)2.94921946
28Hyperventilation (HP:0002883)2.92770594
29Retinal dysplasia (HP:0007973)2.92080103
30Urinary bladder sphincter dysfunction (HP:0002839)2.87462696
31Torticollis (HP:0000473)2.86538494
32Drooling (HP:0002307)2.82663964
33Excessive salivation (HP:0003781)2.82663964
34Degeneration of the lateral corticospinal tracts (HP:0002314)2.79671134
35Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.79671134
36Gaze-evoked nystagmus (HP:0000640)2.79453826
37Urinary urgency (HP:0000012)2.75202649
38Focal dystonia (HP:0004373)2.75103540
39Truncal ataxia (HP:0002078)2.74882459
40Spastic gait (HP:0002064)2.71336744
41Failure to thrive in infancy (HP:0001531)2.71226565
42Epileptiform EEG discharges (HP:0011182)2.69918299
43Cortical dysplasia (HP:0002539)2.68644115
44Dysdiadochokinesis (HP:0002075)2.67311305
45EEG with generalized epileptiform discharges (HP:0011198)2.63343015
46Hemiparesis (HP:0001269)2.61585183
47Genetic anticipation (HP:0003743)2.59601404
48Dysmetria (HP:0001310)2.58923568
49Pachygyria (HP:0001302)2.58296290
50Progressive inability to walk (HP:0002505)2.57816558
51Papilledema (HP:0001085)2.56884535
52Hypsarrhythmia (HP:0002521)2.55112466
53Abnormality of the corticospinal tract (HP:0002492)2.53697675
54Spastic tetraplegia (HP:0002510)2.51947525
55Morphological abnormality of the pyramidal tract (HP:0002062)2.51549276
56Agitation (HP:0000713)2.49872082
57Peripheral hypomyelination (HP:0007182)2.47801725
58Cerebral hypomyelination (HP:0006808)2.46908804
59Craniofacial dystonia (HP:0012179)2.43112467
60Amyotrophic lateral sclerosis (HP:0007354)2.41848635
61Postural instability (HP:0002172)2.39212297
62Pheochromocytoma (HP:0002666)2.32979357
63Stereotypic behavior (HP:0000733)2.32560035
64Fetal akinesia sequence (HP:0001989)2.30351786
65Congenital primary aphakia (HP:0007707)2.30064456
66Medial flaring of the eyebrow (HP:0010747)2.29281513
67Sleep apnea (HP:0010535)2.28441419
68Impaired smooth pursuit (HP:0007772)2.26189592
69Nephrogenic diabetes insipidus (HP:0009806)2.25563853
70Hypoplasia of the corpus callosum (HP:0002079)2.23358256
71Megalencephaly (HP:0001355)2.21742083
72Lower limb muscle weakness (HP:0007340)2.21256923
73Diplopia (HP:0000651)2.21141341
74Abnormality of binocular vision (HP:0011514)2.21141341
75Bradykinesia (HP:0002067)2.19991178
76Termporal pattern (HP:0011008)2.19593381
77Insidious onset (HP:0003587)2.19593381
78Scanning speech (HP:0002168)2.19053777
79Abnormality of the labia minora (HP:0012880)2.18544166
80Specific learning disability (HP:0001328)2.17420985
81Split foot (HP:0001839)2.16315842
82Muscular hypotonia of the trunk (HP:0008936)2.16172777
83Pointed chin (HP:0000307)2.13021635
84Absent speech (HP:0001344)2.12163062
85Gait imbalance (HP:0002141)2.09525264
86Aplasia/Hypoplasia of the brainstem (HP:0007362)2.07036172
87Hypoplasia of the brainstem (HP:0002365)2.07036172
88Inability to walk (HP:0002540)2.05505547
89Type II lissencephaly (HP:0007260)2.03471828
90Hemiplegia (HP:0002301)2.02808143
91Spastic tetraparesis (HP:0001285)2.02302274
92CNS hypomyelination (HP:0003429)2.02150308
93Neurofibrillary tangles (HP:0002185)2.01709199
94Atrophy/Degeneration involving motor neurons (HP:0007373)2.01062835
95Abnormality of ocular smooth pursuit (HP:0000617)2.00540686
96Akinesia (HP:0002304)1.99644136
97Intention tremor (HP:0002080)1.99529897
98Esotropia (HP:0000565)1.98983739
99Impaired vibratory sensation (HP:0002495)1.98875622
100Neuroendocrine neoplasm (HP:0100634)1.97860274
101Hypoventilation (HP:0002791)1.97107441
102Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.95224199
103Insomnia (HP:0100785)1.95206511
104Lissencephaly (HP:0001339)1.95037319
105Abnormal hair whorl (HP:0010721)1.94047887
106Apathy (HP:0000741)1.94003618
107Ventricular fibrillation (HP:0001663)1.93902443
108Inappropriate behavior (HP:0000719)1.93663715
109Obstructive sleep apnea (HP:0002870)1.92769774
110Vaginal atresia (HP:0000148)1.91197149
111Cerebral inclusion bodies (HP:0100314)1.90677007
112Incomplete penetrance (HP:0003829)1.89752152
113Paraplegia (HP:0010550)1.88444454
114Annular pancreas (HP:0001734)1.87891058
115Genital tract atresia (HP:0001827)1.87490952
116Intellectual disability, severe (HP:0010864)1.87441849
117Diminished motivation (HP:0000745)1.87167550
118Clonus (HP:0002169)1.87033489
119Poor suck (HP:0002033)1.85903169
120Abnormal EKG (HP:0003115)1.85725790
121Protruding tongue (HP:0010808)1.84669246
122Abnormality of salivation (HP:0100755)1.84250957
123Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.83451339
124Exotropia (HP:0000577)1.80302138
125Neoplasm of the heart (HP:0100544)1.80227800
126Status epilepticus (HP:0002133)1.78665788
127Blue irides (HP:0000635)1.78094561
128Spinal canal stenosis (HP:0003416)1.77269238

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.38571324
2NTRK34.21026291
3EPHA44.05850693
4MAP3K93.58320182
5MAP3K42.78141112
6MINK12.75674299
7DAPK22.60789986
8MAP2K72.49325347
9NTRK22.38849921
10PAK62.23794943
11CASK2.17817026
12KSR11.95297571
13KSR21.87898318
14PRKD31.87414127
15MAPK131.80257639
16CAMKK11.80054759
17MAP3K121.79999899
18EPHA31.78332634
19MAP2K41.61511541
20CDK51.61365685
21PRPF4B1.60055365
22MAP4K21.55565093
23TNIK1.51135596
24TRIM281.50759817
25DAPK11.50534002
26UHMK11.49032789
27SIK21.43976262
28NTRK11.40230788
29SIK31.35015220
30GRK51.33046328
31CSNK1A1L1.31160337
32ARAF1.29740534
33CDK191.29444777
34PLK21.25686191
35CAMKK21.20791408
36MAP3K21.20248977
37PRKCG1.18434950
38PHKG21.16327361
39PHKG11.16327361
40RIPK41.15642438
41SGK4941.10227895
42SGK2231.10227895
43BMPR1B1.08913626
44CSNK1G11.05869994
45TYRO31.05120660
46ERBB31.02065881
47FES1.00744883
48CDK181.00466013
49CDK140.93091511
50CDK150.93058667
51TESK10.91657767
52WNK30.90028631
53DYRK20.89220564
54STK380.88361027
55CAMK2A0.87002485
56MARK20.83037344
57BCR0.82430406
58CDK11A0.81949762
59SGK20.81491742
60CAMK10.80925792
61DYRK1A0.79669080
62PAK30.78630346
63CAMK2B0.75726436
64MAP3K130.75178761
65LATS20.75047103
66RET0.74865098
67CSNK1G20.74466274
68TAOK10.74266970
69PRKCH0.72595081
70PNCK0.69447650
71DYRK30.68554973
72STK110.67517412
73PRKCZ0.64024217
74RPS6KA20.62951015
75PINK10.60836507
76LMTK20.60835692
77SGK10.60439322
78DYRK1B0.60090608
79RAF10.59679125
80SGK30.59608913
81PRKCE0.56759121
82OXSR10.54907366
83PTK2B0.53520781
84CAMK40.50261714
85CCNB10.49531245
86LIMK10.49386640
87CDC42BPA0.48142621
88BMPR20.47130583
89ADRBK20.47042595
90ALK0.46589837
91CSNK1D0.45280664
92MAP3K60.44292996
93RPS6KA30.43059725
94FER0.42929266
95MAP2K10.41800680
96BRAF0.41699480
97FYN0.41537878
98MAPK120.41128072
99PRKACA0.40671784
100NEK10.40483274
101PRKAA10.40219591
102PDK10.39836459
103DAPK30.39805882
104CAMK2D0.39234927
105CAMK1G0.39157626
106MAP3K10.39106337
107PDPK10.38984290
108MAPK100.37562913
109CSNK1E0.36969675
110CSNK1A10.35462583
111BRSK10.35311547
112RIPK10.35284534
113CAMK2G0.34002327
114SRPK10.33984773
115ERBB20.33792347
116RPS6KA40.33445197
117PRKCB0.31888920
118CSNK1G30.31759573
119PKN10.31661245
120EPHB20.31604565
121PRKACB0.31472294
122MAPK90.31426593
123INSRR0.30220936
124NME10.29155533
125ADRBK10.27968829
126MAPKAPK50.27930033
127PRKG10.27683255
128MAPK80.26930023
129PRKCA0.26370880

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.66520481
2Synaptic vesicle cycle_Homo sapiens_hsa047213.58178962
3Olfactory transduction_Homo sapiens_hsa047402.83792025
4Circadian entrainment_Homo sapiens_hsa047132.76751137
5GABAergic synapse_Homo sapiens_hsa047272.74031183
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.65305749
7Morphine addiction_Homo sapiens_hsa050322.57533167
8Glutamatergic synapse_Homo sapiens_hsa047242.54442824
9Long-term potentiation_Homo sapiens_hsa047202.50960973
10Amphetamine addiction_Homo sapiens_hsa050312.44643770
11Dopaminergic synapse_Homo sapiens_hsa047282.32600269
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.17664986
13Insulin secretion_Homo sapiens_hsa049112.15266705
14Cholinergic synapse_Homo sapiens_hsa047252.07398813
15Salivary secretion_Homo sapiens_hsa049701.92687602
16Cocaine addiction_Homo sapiens_hsa050301.88827262
17Taste transduction_Homo sapiens_hsa047421.80084815
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.77911633
19Serotonergic synapse_Homo sapiens_hsa047261.73111932
20Gastric acid secretion_Homo sapiens_hsa049711.70402993
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.67888033
22Long-term depression_Homo sapiens_hsa047301.64373233
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63586008
24Oxytocin signaling pathway_Homo sapiens_hsa049211.61683299
25Collecting duct acid secretion_Homo sapiens_hsa049661.61447415
26Renin secretion_Homo sapiens_hsa049241.52410779
27Axon guidance_Homo sapiens_hsa043601.49449493
28Calcium signaling pathway_Homo sapiens_hsa040201.45453132
29Oxidative phosphorylation_Homo sapiens_hsa001901.43550532
30Gap junction_Homo sapiens_hsa045401.43000804
31GnRH signaling pathway_Homo sapiens_hsa049121.38803328
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28372839
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.28352593
34Type II diabetes mellitus_Homo sapiens_hsa049301.27508066
35cAMP signaling pathway_Homo sapiens_hsa040241.19323161
36Parkinsons disease_Homo sapiens_hsa050121.18814291
37Vibrio cholerae infection_Homo sapiens_hsa051101.16454494
38Estrogen signaling pathway_Homo sapiens_hsa049151.11629614
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10173382
40ErbB signaling pathway_Homo sapiens_hsa040121.08281393
41Glioma_Homo sapiens_hsa052141.08063392
42Butanoate metabolism_Homo sapiens_hsa006501.08020296
43Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.08001712
44Phosphatidylinositol signaling system_Homo sapiens_hsa040701.04216912
45Melanogenesis_Homo sapiens_hsa049161.04160109
46Cardiac muscle contraction_Homo sapiens_hsa042600.93140617
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.92412262
48Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.91764932
49Phototransduction_Homo sapiens_hsa047440.90856765
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.89776625
51Oocyte meiosis_Homo sapiens_hsa041140.84304922
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84285062
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.79535481
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.79133184
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.79019702
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78302225
57Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.77897414
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.76092272
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.74035322
60Choline metabolism in cancer_Homo sapiens_hsa052310.73133525
61MAPK signaling pathway_Homo sapiens_hsa040100.71388870
62Endometrial cancer_Homo sapiens_hsa052130.70653957
63Pancreatic secretion_Homo sapiens_hsa049720.70310237
64Alcoholism_Homo sapiens_hsa050340.69721783
65Carbohydrate digestion and absorption_Homo sapiens_hsa049730.66999537
66Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66756728
67Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.64347074
68Huntingtons disease_Homo sapiens_hsa050160.63848952
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.63592917
70Thyroid hormone synthesis_Homo sapiens_hsa049180.63341110
71Dorso-ventral axis formation_Homo sapiens_hsa043200.61686632
72Dilated cardiomyopathy_Homo sapiens_hsa054140.61194198
73Type I diabetes mellitus_Homo sapiens_hsa049400.60168099
74Ras signaling pathway_Homo sapiens_hsa040140.59002485
75SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58061464
76VEGF signaling pathway_Homo sapiens_hsa043700.57678260
77Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.57233982
78Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56697178
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56566794
80Circadian rhythm_Homo sapiens_hsa047100.55470289
81Rap1 signaling pathway_Homo sapiens_hsa040150.53397812
82Endocytosis_Homo sapiens_hsa041440.52165473
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52100568
84Glucagon signaling pathway_Homo sapiens_hsa049220.51969088
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.51642092
86Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.51274097
87Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50675735
88Wnt signaling pathway_Homo sapiens_hsa043100.49119747
89Ether lipid metabolism_Homo sapiens_hsa005650.48418953
90Non-small cell lung cancer_Homo sapiens_hsa052230.48206819
91mTOR signaling pathway_Homo sapiens_hsa041500.47349741
92Renal cell carcinoma_Homo sapiens_hsa052110.45706437
93Colorectal cancer_Homo sapiens_hsa052100.45585687
94Prion diseases_Homo sapiens_hsa050200.45246750
95Insulin signaling pathway_Homo sapiens_hsa049100.43156999
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42100852
97Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40679110
98Steroid biosynthesis_Homo sapiens_hsa001000.39164702
99Inositol phosphate metabolism_Homo sapiens_hsa005620.38947176
100Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37911413
101Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37251608
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37188850
103Vitamin B6 metabolism_Homo sapiens_hsa007500.37124559
104beta-Alanine metabolism_Homo sapiens_hsa004100.36409875
105Regulation of autophagy_Homo sapiens_hsa041400.34741571
106AMPK signaling pathway_Homo sapiens_hsa041520.34248964
107Protein export_Homo sapiens_hsa030600.34156610
108Alzheimers disease_Homo sapiens_hsa050100.34129490
109Chemokine signaling pathway_Homo sapiens_hsa040620.33680902
110Fatty acid biosynthesis_Homo sapiens_hsa000610.32315857
111Phagosome_Homo sapiens_hsa041450.31689106
112Prolactin signaling pathway_Homo sapiens_hsa049170.30412269
113Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.30321312
114Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29126851
115Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.28953643
116Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27939470
117Bile secretion_Homo sapiens_hsa049760.27104469
118Arginine and proline metabolism_Homo sapiens_hsa003300.26603024
119Maturity onset diabetes of the young_Homo sapiens_hsa049500.26089055
120Ovarian steroidogenesis_Homo sapiens_hsa049130.25532550
121Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24208810
122Hippo signaling pathway_Homo sapiens_hsa043900.24001109
123Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23941449
124Salmonella infection_Homo sapiens_hsa051320.22776324

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