ABHD8

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 is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.83847878
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.51771364
3locomotory exploration behavior (GO:0035641)6.00048045
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.91594274
5synaptic vesicle exocytosis (GO:0016079)5.62063542
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.59542066
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.52144700
8regulation of synaptic vesicle exocytosis (GO:2000300)5.36764268
9glutamate secretion (GO:0014047)5.30117249
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.22465149
11vocalization behavior (GO:0071625)5.18158708
12regulation of glutamate receptor signaling pathway (GO:1900449)4.84725347
13regulation of synaptic vesicle transport (GO:1902803)4.80464098
14regulation of synapse structural plasticity (GO:0051823)4.75668838
15neurotransmitter secretion (GO:0007269)4.69595077
16protein localization to synapse (GO:0035418)4.69434607
17sodium ion export (GO:0071436)4.69012055
18exploration behavior (GO:0035640)4.67463420
19regulation of neuronal synaptic plasticity (GO:0048168)4.63509855
20layer formation in cerebral cortex (GO:0021819)4.56906669
21cellular potassium ion homeostasis (GO:0030007)4.49157248
22L-amino acid import (GO:0043092)4.48968754
23regulation of long-term neuronal synaptic plasticity (GO:0048169)4.38148259
24amino acid import (GO:0043090)4.34979350
25neuronal action potential propagation (GO:0019227)4.34782327
26cerebellar granule cell differentiation (GO:0021707)4.33811171
27ionotropic glutamate receptor signaling pathway (GO:0035235)4.09367682
28activation of protein kinase A activity (GO:0034199)4.09115571
29positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.99993297
30regulation of synapse maturation (GO:0090128)3.97918004
31positive regulation of synapse maturation (GO:0090129)3.96579364
32synaptic transmission, glutamatergic (GO:0035249)3.94452696
33dendritic spine morphogenesis (GO:0060997)3.92100714
34response to pheromone (GO:0019236)3.91438611
35cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.83917312
36long-term memory (GO:0007616)3.82352666
37cytoskeletal anchoring at plasma membrane (GO:0007016)3.79845554
38gamma-aminobutyric acid transport (GO:0015812)3.79817464
39cell communication by electrical coupling (GO:0010644)3.77808539
40positive regulation of membrane potential (GO:0045838)3.74490688
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.72907257
42neurotransmitter-gated ion channel clustering (GO:0072578)3.64875618
43positive regulation of synaptic transmission, GABAergic (GO:0032230)3.62822416
44neuromuscular process controlling balance (GO:0050885)3.62497647
45neurotransmitter transport (GO:0006836)3.62380905
46neuron cell-cell adhesion (GO:0007158)3.61953735
47neuron-neuron synaptic transmission (GO:0007270)3.58771880
48glutamate receptor signaling pathway (GO:0007215)3.55558228
49cerebellar Purkinje cell differentiation (GO:0021702)3.54906303
50proline transport (GO:0015824)3.53755792
51regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.53250714
52regulation of neurotransmitter secretion (GO:0046928)3.52251320
53synaptic vesicle endocytosis (GO:0048488)3.51405154
54regulation of excitatory postsynaptic membrane potential (GO:0060079)3.50126281
55prepulse inhibition (GO:0060134)3.49136317
56regulation of synaptic plasticity (GO:0048167)3.48034739
57neuromuscular process controlling posture (GO:0050884)3.47758944
58regulation of ARF protein signal transduction (GO:0032012)3.47569601
59regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.42483226
60glycine transport (GO:0015816)3.39556569
61neuronal ion channel clustering (GO:0045161)3.38792005
62negative regulation of synaptic transmission, GABAergic (GO:0032229)3.36223651
63regulation of neurotransmitter levels (GO:0001505)3.36009062
64positive regulation of neurotransmitter transport (GO:0051590)3.34519034
65membrane depolarization during action potential (GO:0086010)3.34055891
66regulation of postsynaptic membrane potential (GO:0060078)3.32023377
67auditory behavior (GO:0031223)3.31547417
68positive regulation of neurotransmitter secretion (GO:0001956)3.31288342
69regulation of dendritic spine morphogenesis (GO:0061001)3.30271912
70positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.28754399
71regulation of neurotransmitter transport (GO:0051588)3.25268273
72response to auditory stimulus (GO:0010996)3.23073750
73G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.22241737
74regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.19904398
75acidic amino acid transport (GO:0015800)3.19500255
76regulation of vesicle fusion (GO:0031338)3.19400654
77postsynaptic membrane organization (GO:0001941)3.19080616
78potassium ion homeostasis (GO:0055075)3.18714967
79establishment of mitochondrion localization (GO:0051654)3.16137374
80cerebellar Purkinje cell layer development (GO:0021680)3.12289536
81negative regulation of dendrite morphogenesis (GO:0050774)3.11087263
82calcium ion-dependent exocytosis (GO:0017156)3.10195366
83membrane hyperpolarization (GO:0060081)3.10187360
84potassium ion import (GO:0010107)3.09956365
85negative regulation of microtubule polymerization (GO:0031115)3.08855353
86long-term synaptic potentiation (GO:0060291)3.07190063
87neuron recognition (GO:0008038)3.06457365
88regulation of synaptic transmission, glutamatergic (GO:0051966)3.06119554
89cellular sodium ion homeostasis (GO:0006883)3.05880827
90positive regulation of dendritic spine development (GO:0060999)3.05273266
91dicarboxylic acid transport (GO:0006835)3.05112503
92dendrite morphogenesis (GO:0048813)3.04854948
93negative regulation of cytosolic calcium ion concentration (GO:0051481)3.04133284
94vesicle transport along microtubule (GO:0047496)3.03125714
95transmission of nerve impulse (GO:0019226)3.03053648
96axon cargo transport (GO:0008088)3.02817732
97membrane depolarization (GO:0051899)3.01966738
98positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.99684743
99regulation of voltage-gated calcium channel activity (GO:1901385)2.99646146
100innervation (GO:0060384)2.97612132
101positive regulation of dendritic spine morphogenesis (GO:0061003)2.96417545
102vesicle docking involved in exocytosis (GO:0006904)2.95874950
103negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.95099347
104axonal fasciculation (GO:0007413)2.94529406
105synaptic vesicle transport (GO:0048489)2.94504525
106establishment of synaptic vesicle localization (GO:0097480)2.94504525
107dendritic spine organization (GO:0097061)2.93872163
108regulation of dendritic spine development (GO:0060998)2.93426278
109positive regulation of synaptic transmission (GO:0050806)2.92443604
110gamma-aminobutyric acid signaling pathway (GO:0007214)2.92094673
111regulation of synaptic transmission (GO:0050804)2.90042325
112dopamine receptor signaling pathway (GO:0007212)2.89688081
113central nervous system myelination (GO:0022010)2.89199188
114axon ensheathment in central nervous system (GO:0032291)2.89199188
115cell migration in hindbrain (GO:0021535)2.88395649
116social behavior (GO:0035176)2.86909097
117intraspecies interaction between organisms (GO:0051703)2.86909097
118L-glutamate transport (GO:0015813)2.82999083
119establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.81324932
120mitochondrion transport along microtubule (GO:0047497)2.81324932
121signal complex assembly (GO:0007172)2.81143050
122positive regulation of dendrite development (GO:1900006)2.79157965
123regulation of exocytosis (GO:0017157)2.78166695
124protein localization to endosome (GO:0036010)2.77411020
125positive regulation of protein dephosphorylation (GO:0035307)2.75954183
126regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.74764144
127mating behavior (GO:0007617)2.72091156
128neuromuscular process (GO:0050905)2.71738762
129adenosine receptor signaling pathway (GO:0001973)2.70911023
130regulation of ARF GTPase activity (GO:0032312)2.65777276

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.19521749
2RARB_27405468_Chip-Seq_BRAIN_Mouse3.23036529
3REST_21632747_ChIP-Seq_MESCs_Mouse3.06371288
4EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.96289344
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.93490357
6DROSHA_22980978_ChIP-Seq_HELA_Human2.91549031
7SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.91407676
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.85284457
9IKZF1_21737484_ChIP-ChIP_HCT116_Human2.77293064
10MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.73317988
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.73076693
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70403708
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70403708
14TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.69389433
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.67904731
16REST_18959480_ChIP-ChIP_MESCs_Mouse2.64153104
17SUZ12_27294783_Chip-Seq_ESCs_Mouse2.61068387
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.58102149
19* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56620142
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.56281621
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.42350441
22SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.30726920
23SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.30663728
24SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.30178056
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.29767931
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.08574872
27GBX2_23144817_ChIP-Seq_PC3_Human2.06996143
28RARG_19884340_ChIP-ChIP_MEFs_Mouse1.94354185
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.94231299
30VDR_21846776_ChIP-Seq_THP-1_Human1.90288667
31ZFP281_18757296_ChIP-ChIP_E14_Mouse1.88289724
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.84158850
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.81675875
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.75126888
35* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.72930999
36KDM2B_26808549_Chip-Seq_K562_Human1.71972455
37RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.69082578
38ELK3_25401928_ChIP-Seq_HUVEC_Human1.66106055
39RACK7_27058665_Chip-Seq_MCF-7_Human1.65544694
40TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.64528278
41SA1_27219007_Chip-Seq_ERYTHROID_Human1.64075635
42UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.63249870
43RING1B_27294783_Chip-Seq_ESCs_Mouse1.56119550
44CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.55215939
45CTCF_27219007_Chip-Seq_ERYTHROID_Human1.54427242
46NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.51773976
47TCF7_22412390_ChIP-Seq_EML_Mouse1.48846425
48KDM2B_26808549_Chip-Seq_SUP-B15_Human1.46243070
49LXR_22292898_ChIP-Seq_THP-1_Human1.42693271
50WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.42253473
51GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.41699659
52ZNF274_21170338_ChIP-Seq_K562_Hela1.41612258
53PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.40770749
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.39915101
55GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.38557872
56ZFP281_27345836_Chip-Seq_ESCs_Mouse1.38516864
57AR_21572438_ChIP-Seq_LNCaP_Human1.31396178
58BCOR_27268052_Chip-Seq_Bcells_Human1.29301111
59CTCF_27219007_Chip-Seq_Bcells_Human1.27374060
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27048408
61NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.26365010
62BCL6_27268052_Chip-Seq_Bcells_Human1.26294165
63KDM2B_26808549_Chip-Seq_DND41_Human1.25879184
64MYC_22102868_ChIP-Seq_BL_Human1.24385135
65THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24007452
66TET1_21490601_ChIP-Seq_MESCs_Mouse1.21952705
67* ESR2_21235772_ChIP-Seq_MCF-7_Human1.21533096
68* SA1_27219007_Chip-Seq_Bcells_Human1.20329022
69SMC4_20622854_ChIP-Seq_HELA_Human1.19868337
70SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.18138728
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.17640125
72WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17535850
73CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.17340885
74RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.16210408
75* SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.15467384
76DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.13022765
77KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.11072376
78AR_19668381_ChIP-Seq_PC3_Human1.10962730
79KDM2B_26808549_Chip-Seq_JURKAT_Human1.08873701
80TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.07427953
81PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.07363276
82SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06341769
83* CTCF_20526341_ChIP-Seq_ESCs_Human1.05664211
84OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.04923045
85E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.04032025
86CTBP2_25329375_ChIP-Seq_LNCAP_Human1.03445137
87NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02542468
88* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.02063394
89SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.01226084
90CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.00918714
91GATA1_19941827_ChIP-Seq_MEL_Mouse0.99016891
92PU.1_20513432_ChIP-Seq_Bcells_Mouse0.98884074
93PHF8_20622854_ChIP-Seq_HELA_Human0.98259039
94PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.98228280
95SMAD4_21799915_ChIP-Seq_A2780_Human0.98172664
96JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.98031093
97RARA_24833708_ChIP-Seq_LIVER_Mouse0.97308860
98* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.97073939
99PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.97025585
100SOX2_21211035_ChIP-Seq_LN229_Gbm0.96651871
101NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.96601032
102MAF_26560356_Chip-Seq_TH2_Human0.96418300
103KLF4_19829295_ChIP-Seq_ESCs_Human0.96401507
104TP63_22573176_ChIP-Seq_HFKS_Human0.95909172
105P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95560619
106OCT4_19829295_ChIP-Seq_ESCs_Human0.94557538
107SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94526614
108SMAD3_21741376_ChIP-Seq_ESCs_Human0.93582024
109RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.93196863
110* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92529599
111MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92388975
112VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92051665
113SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.91243043
114* P68_20966046_ChIP-Seq_HELA_Human0.89535487
115SMAD4_21741376_ChIP-Seq_ESCs_Human0.87515194
116MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.86956763
117CREB1_26743006_Chip-Seq_LNCaP_Human0.85311745
118CTBP1_25329375_ChIP-Seq_LNCAP_Human0.84415142
119SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.83063230
120TP53_20018659_ChIP-ChIP_R1E_Mouse0.82218754
121* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.80671271
122SRY_22984422_ChIP-ChIP_TESTIS_Rat0.80593620
123TET1_21451524_ChIP-Seq_MESCs_Mouse0.79979130
124SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79608694
125DPY_21335234_ChIP-Seq_ESCs_Mouse0.79175801
126YAP1_20516196_ChIP-Seq_MESCs_Mouse0.79032046
127TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.78700110
128KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.78443399
129GATA1_26923725_Chip-Seq_HPCs_Mouse0.78378162
130ELK4_26923725_Chip-Seq_MESODERM_Mouse0.78306911
131ELF1_20517297_ChIP-Seq_JURKAT_Human0.78113032
132WDR5_24793694_ChIP-Seq_LNCAP_Human0.77154753
133SMAD4_21741376_ChIP-Seq_HESCs_Human0.76960207
134KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.76124989
135STAT6_21828071_ChIP-Seq_BEAS2B_Human0.76009775
136PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.76005208

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.93813077
2MP0003635_abnormal_synaptic_transmissio4.21839271
3MP0003880_abnormal_central_pattern4.18580538
4MP0004270_analgesia3.44356873
5MP0002063_abnormal_learning/memory/cond3.30136734
6MP0009745_abnormal_behavioral_response3.26422451
7MP0005423_abnormal_somatic_nervous3.25490413
8MP0002822_catalepsy3.24697596
9MP0002064_seizures3.05818483
10MP0009046_muscle_twitch2.95133668
11MP0001968_abnormal_touch/_nociception2.90492745
12MP0002572_abnormal_emotion/affect_behav2.60145829
13MP0002272_abnormal_nervous_system2.49530297
14MP0002734_abnormal_mechanical_nocicepti2.45737323
15MP0001486_abnormal_startle_reflex2.39429358
16MP0002909_abnormal_adrenal_gland2.27021778
17MP0008569_lethality_at_weaning2.24127901
18MP0002736_abnormal_nociception_after2.07804391
19MP0004811_abnormal_neuron_physiology2.06582199
20MP0004858_abnormal_nervous_system2.03023001
21MP0002735_abnormal_chemical_nociception2.01892190
22MP0003690_abnormal_glial_cell2.00494495
23MP0002733_abnormal_thermal_nociception1.98048345
24MP0001970_abnormal_pain_threshold1.92237405
25MP0001501_abnormal_sleep_pattern1.92062350
26MP0000920_abnormal_myelination1.90881648
27MP0002184_abnormal_innervation1.88617144
28MP0003329_amyloid_beta_deposits1.88424792
29MP0001984_abnormal_olfaction1.86210457
30MP0002067_abnormal_sensory_capabilities1.80405257
31MP0002557_abnormal_social/conspecific_i1.73990057
32MP0009780_abnormal_chondrocyte_physiolo1.71750151
33MP0001440_abnormal_grooming_behavior1.70616756
34MP0000955_abnormal_spinal_cord1.69545800
35MP0005058_abnormal_lysosome_morphology1.68486831
36MP0003879_abnormal_hair_cell1.62479722
37MP0004924_abnormal_behavior1.53530242
38MP0005386_behavior/neurological_phenoty1.53530242
39MP0000013_abnormal_adipose_tissue1.52810056
40MP0008961_abnormal_basal_metabolism1.51301633
41MP0000778_abnormal_nervous_system1.50760820
42MP0001502_abnormal_circadian_rhythm1.50220895
43MP0003283_abnormal_digestive_organ1.49188921
44MP0003122_maternal_imprinting1.48409006
45MP0002882_abnormal_neuron_morphology1.46251263
46MP0008260_abnormal_autophagy1.40848026
47MP0005646_abnormal_pituitary_gland1.40785787
48MP0004885_abnormal_endolymph1.40316942
49MP0000751_myopathy1.38872840
50MP0002066_abnormal_motor_capabilities/c1.38364456
51MP0003633_abnormal_nervous_system1.38278491
52MP0006276_abnormal_autonomic_nervous1.35706565
53MP0003787_abnormal_imprinting1.35318537
54MP0005645_abnormal_hypothalamus_physiol1.34888673
55MP0004233_abnormal_muscle_weight1.20841250
56MP0003123_paternal_imprinting1.20445532
57MP0004142_abnormal_muscle_tone1.20159998
58MP0003705_abnormal_hypodermis_morpholog1.19464695
59MP0009840_abnormal_foam_cell1.18891540
60MP0005410_abnormal_fertilization1.16743186
61MP0002653_abnormal_ependyma_morphology1.13932485
62MP0002152_abnormal_brain_morphology1.13540186
63MP0003191_abnormal_cellular_cholesterol1.09926397
64MP0005551_abnormal_eye_electrophysiolog1.09194689
65MP0004145_abnormal_muscle_electrophysio1.08549090
66MP0001346_abnormal_lacrimal_gland1.04964211
67MP0003631_nervous_system_phenotype1.04530948
68MP0005166_decreased_susceptibility_to1.02136405
69MP0003075_altered_response_to0.96469118
70MP0002069_abnormal_eating/drinking_beha0.95834019
71MP0002229_neurodegeneration0.94733943
72MP0010386_abnormal_urinary_bladder0.94725636
73MP0008872_abnormal_physiological_respon0.94621414
74MP0001529_abnormal_vocalization0.94167672
75MP0002249_abnormal_larynx_morphology0.93129265
76MP0009278_abnormal_bone_marrow0.92562975
77MP0008874_decreased_physiological_sensi0.88252522
78MP0005167_abnormal_blood-brain_barrier0.88236762
79MP0001905_abnormal_dopamine_level0.87956731
80MP0004130_abnormal_muscle_cell0.87806811
81MP0005394_taste/olfaction_phenotype0.87355145
82MP0005499_abnormal_olfactory_system0.87355145
83MP0002090_abnormal_vision0.86695146
84MP0000681_abnormal_thyroid_gland0.85824867
85MP0005451_abnormal_body_composition0.85623456
86MP0001963_abnormal_hearing_physiology0.85615338
87MP0005623_abnormal_meninges_morphology0.85136622
88MP0002234_abnormal_pharynx_morphology0.82682304
89MP0003634_abnormal_glial_cell0.82681461
90MP0001849_ear_inflammation0.82658800
91MP0000569_abnormal_digit_pigmentation0.79449643
92MP0002089_abnormal_postnatal_growth/wei0.78980951
93MP0002638_abnormal_pupillary_reflex0.78913325
94MP0000631_abnormal_neuroendocrine_gland0.78783811
95MP0003172_abnormal_lysosome_physiology0.78428572
96MP0006072_abnormal_retinal_apoptosis0.77462705
97MP0003303_peritoneal_inflammation0.77212733
98MP0004085_abnormal_heartbeat0.77176010
99MP0002752_abnormal_somatic_nervous0.73774784
100MP0001177_atelectasis0.72107455
101MP0003137_abnormal_impulse_conducting0.71156685
102MP0004510_myositis0.70070518
103MP0001348_abnormal_lacrimal_gland0.69650042
104MP0005535_abnormal_body_temperature0.68269441
105MP0000604_amyloidosis0.67886542
106MP0003183_abnormal_peptide_metabolism0.66608534
107MP0004215_abnormal_myocardial_fiber0.63515225
108MP0004742_abnormal_vestibular_system0.62505390
109MP0000003_abnormal_adipose_tissue0.61809088
110MP0003698_abnormal_male_reproductive0.61546645
111MP0000678_abnormal_parathyroid_gland0.59560012
112MP0010769_abnormal_survival0.58681440
113MP0003861_abnormal_nervous_system0.58637996
114MP0003436_decreased_susceptibility_to0.58583288
115MP0000534_abnormal_ureter_morphology0.57083200
116MP0001943_abnormal_respiration0.56445744
117MP0003632_abnormal_nervous_system0.55979737
118MP0010768_mortality/aging0.55217212
119MP0000747_muscle_weakness0.54818685
120MP0003956_abnormal_body_size0.53932911
121MP0005253_abnormal_eye_physiology0.53503072
122MP0002873_normal_phenotype0.50412353
123MP0000579_abnormal_nail_morphology0.49296594
124MP0002169_no_abnormal_phenotype0.49279447
125MP0003279_aneurysm0.46745100
126MP0000759_abnormal_skeletal_muscle0.44533075
127MP0001986_abnormal_taste_sensitivity0.43644500
128MP0005584_abnormal_enzyme/coenzyme_acti0.42565043
129MP0002083_premature_death0.41945404

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.99606420
2Focal motor seizures (HP:0011153)6.05788733
3Visual hallucinations (HP:0002367)5.57082727
4Focal seizures (HP:0007359)4.84307626
5Ankle clonus (HP:0011448)3.94108766
6Action tremor (HP:0002345)3.91735326
7Epileptic encephalopathy (HP:0200134)3.83655536
8Supranuclear gaze palsy (HP:0000605)3.79240201
9Progressive cerebellar ataxia (HP:0002073)3.77158449
10Obstructive sleep apnea (HP:0002870)3.71501663
11Febrile seizures (HP:0002373)3.66524088
12Abnormality of the lower motor neuron (HP:0002366)3.65934324
13Atonic seizures (HP:0010819)3.63677892
14Depression (HP:0000716)3.63455766
15Absence seizures (HP:0002121)3.51585391
16Impaired vibration sensation in the lower limbs (HP:0002166)3.23453071
17Poor eye contact (HP:0000817)3.18570298
18Tetraplegia (HP:0002445)3.14295102
19Abnormal eating behavior (HP:0100738)3.09610229
20Postural instability (HP:0002172)3.09315599
21Generalized tonic-clonic seizures (HP:0002069)3.09202808
22Insomnia (HP:0100785)3.06935073
23Papilledema (HP:0001085)3.05719395
24Peripheral hypomyelination (HP:0007182)3.04697614
25Ventricular fibrillation (HP:0001663)3.04081646
26Dialeptic seizures (HP:0011146)3.00106600
27Mutism (HP:0002300)2.99313805
28Urinary bladder sphincter dysfunction (HP:0002839)2.96967126
29Anxiety (HP:0000739)2.96503887
30Truncal ataxia (HP:0002078)2.89966344
31Dysdiadochokinesis (HP:0002075)2.89425067
32Urinary urgency (HP:0000012)2.89027920
33Abnormal social behavior (HP:0012433)2.86016446
34Impaired social interactions (HP:0000735)2.86016446
35Annular pancreas (HP:0001734)2.85132098
36Torticollis (HP:0000473)2.82347610
37Cerebral hypomyelination (HP:0006808)2.80380097
38Gaze-evoked nystagmus (HP:0000640)2.78426313
39Hemiplegia (HP:0002301)2.77576664
40Pointed chin (HP:0000307)2.75861516
41Hyperacusis (HP:0010780)2.75395475
42Akinesia (HP:0002304)2.73143044
43Impaired smooth pursuit (HP:0007772)2.71454060
44Focal dystonia (HP:0004373)2.67181546
45Bundle branch block (HP:0011710)2.65495013
46Genetic anticipation (HP:0003743)2.61737305
47Spastic gait (HP:0002064)2.61191223
48Dysmetria (HP:0001310)2.60279267
49Lower limb amyotrophy (HP:0007210)2.56203648
50Amblyopia (HP:0000646)2.51552009
51Megalencephaly (HP:0001355)2.51405919
52Broad-based gait (HP:0002136)2.50770989
53Hemiparesis (HP:0001269)2.49079011
54Dysmetric saccades (HP:0000641)2.48995395
55Bradykinesia (HP:0002067)2.45527161
56Abnormality of ocular smooth pursuit (HP:0000617)2.42290818
57Cholecystitis (HP:0001082)2.40370835
58Abnormal gallbladder physiology (HP:0012438)2.40370835
59Failure to thrive in infancy (HP:0001531)2.39451752
60Stereotypic behavior (HP:0000733)2.37655623
61Craniofacial dystonia (HP:0012179)2.37082017
62Amyotrophic lateral sclerosis (HP:0007354)2.36783321
63Hypercortisolism (HP:0001578)2.35753690
64Neoplasm of the heart (HP:0100544)2.32595536
65Dementia (HP:0000726)2.32153523
66Axonal loss (HP:0003447)2.29310411
67Spinal canal stenosis (HP:0003416)2.26717843
68Scanning speech (HP:0002168)2.25431667
69Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.22401660
70Limb dystonia (HP:0002451)2.21920612
71Lower limb asymmetry (HP:0100559)2.19958935
72Agitation (HP:0000713)2.19137793
73Intention tremor (HP:0002080)2.17906126
74Progressive inability to walk (HP:0002505)2.17466657
75Turricephaly (HP:0000262)2.14416144
76Lower limb muscle weakness (HP:0007340)2.12721318
77Slow saccadic eye movements (HP:0000514)2.12630354
78Increased cerebral lipofuscin (HP:0011813)2.12522362
79Hypoventilation (HP:0002791)2.11103728
80Large eyes (HP:0001090)2.10224154
81Clonus (HP:0002169)2.09420154
82Elfin facies (HP:0004428)2.07521054
83Abnormality of liposaccharide metabolism (HP:0010968)2.07273132
84Abnormality of glycosphingolipid metabolism (HP:0004343)2.07273132
85Abnormality of glycolipid metabolism (HP:0010969)2.07273132
86Abnormal EKG (HP:0003115)2.06944744
87Impaired vibratory sensation (HP:0002495)2.06696939
88Diplopia (HP:0000651)2.03649749
89Abnormality of binocular vision (HP:0011514)2.03649749
90Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.02600449
91Polyphagia (HP:0002591)2.01781577
92Central scotoma (HP:0000603)2.00700084
93Rapidly progressive (HP:0003678)1.99203721
94Sleep apnea (HP:0010535)1.98741992
95Distal sensory impairment (HP:0002936)1.97962864
96Distal upper limb amyotrophy (HP:0007149)1.97099618
97Upper limb amyotrophy (HP:0009129)1.97099618
98Pheochromocytoma (HP:0002666)1.96537528
99EEG with generalized epileptiform discharges (HP:0011198)1.94873106
100Apathy (HP:0000741)1.92882114
101Vertebral compression fractures (HP:0002953)1.92853243
102Epileptiform EEG discharges (HP:0011182)1.92791172
103Cerebral inclusion bodies (HP:0100314)1.92131963
104Dynein arm defect of respiratory motile cilia (HP:0012255)1.91330186
105Absent/shortened dynein arms (HP:0200106)1.91330186
106Distal lower limb amyotrophy (HP:0008944)1.89777735
107Status epilepticus (HP:0002133)1.89275988
108Fetal akinesia sequence (HP:0001989)1.89059798
109Neurofibrillary tangles (HP:0002185)1.87899388
110Diminished motivation (HP:0000745)1.87368100
111Dysostosis multiplex (HP:0000943)1.86764896
112Foot dorsiflexor weakness (HP:0009027)1.84731188
113Achilles tendon contracture (HP:0001771)1.84334256
114Hypsarrhythmia (HP:0002521)1.83947698
115Abnormality of the periventricular white matter (HP:0002518)1.83414337
116Amyloidosis (HP:0011034)1.82762665
117Resting tremor (HP:0002322)1.81480983
118Delusions (HP:0000746)1.81356371
119Rigidity (HP:0002063)1.81328909
120Neuronal loss in central nervous system (HP:0002529)1.80847998
121Cerebral aneurysm (HP:0004944)1.80400399
122Hyperthyroidism (HP:0000836)1.80138480
123Excessive salivation (HP:0003781)1.80049452
124Drooling (HP:0002307)1.80049452
125Spastic tetraparesis (HP:0001285)1.79422812
126Hand muscle atrophy (HP:0009130)1.79397951
127Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.78486504
128Prolonged QT interval (HP:0001657)1.77410509
129Truncus arteriosus (HP:0001660)1.77310500
130Menstrual irregularities (HP:0000858)1.76967484
131Overriding aorta (HP:0002623)1.76898214
132Abnormality of saccadic eye movements (HP:0000570)1.75560893
133Stridor (HP:0010307)1.75291508
134Increased neuronal autofluorescent lipopigment (HP:0002074)1.75146090
135Aplasia involving bones of the extremities (HP:0009825)1.73955071
136Aplasia involving bones of the upper limbs (HP:0009823)1.73955071
137Aplasia of the phalanges of the hand (HP:0009802)1.73955071

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.11868144
2NTRK33.84603212
3EPHA43.71416100
4PRKD33.36833025
5MINK12.82586832
6PAK62.72581679
7MARK12.66962833
8CAMKK12.56107230
9MAP3K42.52392908
10KSR22.50766306
11DAPK22.39838750
12MAP3K112.32408749
13NTRK22.09719290
14MAP2K71.82636212
15STK381.79003317
16NTRK11.74296333
17KSR11.64279227
18CDK51.57991519
19TAOK11.55887737
20TYRO31.53662521
21SIK21.49277659
22ARAF1.48453039
23DAPK11.44510761
24MAP2K41.44284284
25CDK191.41039779
26MAP3K131.40567256
27SMG11.38278632
28MAP3K121.36200643
29UHMK11.33714698
30RIPK11.32228194
31TRIB31.29395318
32CAMKK21.28644611
33ERN11.24822511
34PRKCH1.23691730
35PHKG11.22703131
36PHKG21.22703131
37LMTK21.20759468
38PINK11.18340489
39FES1.17573790
40TESK21.16644415
41TAOK21.16267379
42PRPF4B1.15738503
43NEK11.14951839
44BRAF1.10765850
45PRKCG1.09580959
46MAPK121.07187085
47CAMK11.06587272
48GRK51.06126805
49RIPK41.05643610
50ICK1.02307405
51CDK151.02213297
52CDK181.01899896
53TNK21.01333611
54IRAK31.01313953
55ALK0.99624176
56RET0.99496260
57CDK140.98208662
58MAP3K20.97576365
59MARK20.97151211
60TESK10.93379152
61CDK11A0.91720109
62TNIK0.90741700
63MAPK130.89698807
64STK110.89024951
65SIK10.87833782
66SCYL20.86875105
67RAF10.81142615
68PDK10.80842708
69BRSK10.79541337
70LATS20.76922614
71MAP3K10.75022991
72PLK20.74782305
73MAP3K70.74745659
74PKN20.74015048
75IRAK20.72951960
76PTK2B0.72858004
77PAK30.72465335
78PRKD20.70180819
79DYRK1B0.69357598
80NME20.69252060
81PKN10.68808417
82SGK4940.65654751
83SGK2230.65654751
84PDPK10.63173357
85PDK30.62882543
86PDK40.62882543
87MOS0.61440422
88CAMK2A0.60502624
89DAPK30.58615182
90SGK30.57105176
91CAMK40.56406770
92DYRK1A0.56279270
93NEK60.54328985
94PRKG20.54313882
95PRKCZ0.51861116
96PNCK0.51683245
97CDC42BPA0.50483834
98PIM20.47742292
99CAMK1D0.47335355
100RPS6KA30.44876284
101MAPK100.43032960
102MAPK40.43010911
103RPS6KA20.42753772
104SGK10.42211806
105EEF2K0.41449956
106SGK20.41370430
107FYN0.41243730
108CAMK2B0.39307667
109PDGFRA0.39241549
110ABL20.37996088
111LIMK10.37891053
112EPHB10.36796546
113CAMK1G0.34825608
114SIK30.34536168
115CCNB10.34190065
116PAK10.32747359
117MAP2K10.32712820
118AKT20.32665604
119DDR20.30225460
120ROCK20.30215195
121MAP2K60.30058343
122INSRR0.29924708
123WNK10.29413963
124ROCK10.28560466
125DMPK0.28080567
126CAMK2G0.27805239

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.37858129
2Nicotine addiction_Homo sapiens_hsa050333.00827020
3Olfactory transduction_Homo sapiens_hsa047402.90963419
4Circadian entrainment_Homo sapiens_hsa047132.58117652
5GABAergic synapse_Homo sapiens_hsa047272.54527300
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.53849871
7Long-term potentiation_Homo sapiens_hsa047202.43993512
8Morphine addiction_Homo sapiens_hsa050322.36813983
9Glutamatergic synapse_Homo sapiens_hsa047242.30549224
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.29897063
11Amphetamine addiction_Homo sapiens_hsa050312.24272573
12Vitamin B6 metabolism_Homo sapiens_hsa007502.16673783
13Insulin secretion_Homo sapiens_hsa049112.12221358
14Dopaminergic synapse_Homo sapiens_hsa047282.07800134
15Salivary secretion_Homo sapiens_hsa049702.03023653
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.93005362
17Cholinergic synapse_Homo sapiens_hsa047251.91165227
18Gastric acid secretion_Homo sapiens_hsa049711.88909068
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.83504881
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.78162164
21Oxytocin signaling pathway_Homo sapiens_hsa049211.70396104
22Cocaine addiction_Homo sapiens_hsa050301.58820977
23Renin secretion_Homo sapiens_hsa049241.55868551
24Taste transduction_Homo sapiens_hsa047421.47109336
25Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.44636697
26GnRH signaling pathway_Homo sapiens_hsa049121.41995427
27Calcium signaling pathway_Homo sapiens_hsa040201.41030769
28Gap junction_Homo sapiens_hsa045401.39950901
29Long-term depression_Homo sapiens_hsa047301.36058681
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32110195
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.31512130
32Type II diabetes mellitus_Homo sapiens_hsa049301.29438578
33Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.27169751
34Serotonergic synapse_Homo sapiens_hsa047261.25778365
35Estrogen signaling pathway_Homo sapiens_hsa049151.25728873
36cAMP signaling pathway_Homo sapiens_hsa040241.24404823
37Glioma_Homo sapiens_hsa052141.24070977
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.15873628
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10882899
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.08696879
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06325247
42Oocyte meiosis_Homo sapiens_hsa041141.05001777
43Nitrogen metabolism_Homo sapiens_hsa009101.02970574
44Cardiac muscle contraction_Homo sapiens_hsa042601.02434785
45Melanogenesis_Homo sapiens_hsa049161.00341191
462-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.98676525
47Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.98553555
48ErbB signaling pathway_Homo sapiens_hsa040120.96907627
49Carbohydrate digestion and absorption_Homo sapiens_hsa049730.96188619
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.93770345
51Axon guidance_Homo sapiens_hsa043600.92249015
52Neurotrophin signaling pathway_Homo sapiens_hsa047220.91583298
53Collecting duct acid secretion_Homo sapiens_hsa049660.91206871
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.89324856
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.89280496
56VEGF signaling pathway_Homo sapiens_hsa043700.88647153
57Sulfur relay system_Homo sapiens_hsa041220.88024121
58Dorso-ventral axis formation_Homo sapiens_hsa043200.86736360
59Glycosaminoglycan degradation_Homo sapiens_hsa005310.85942985
60Other glycan degradation_Homo sapiens_hsa005110.83759218
61Dilated cardiomyopathy_Homo sapiens_hsa054140.82981965
62mTOR signaling pathway_Homo sapiens_hsa041500.81070986
63Phototransduction_Homo sapiens_hsa047440.80824058
64Pancreatic secretion_Homo sapiens_hsa049720.79789398
65Thyroid hormone synthesis_Homo sapiens_hsa049180.79273433
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79227752
67Glucagon signaling pathway_Homo sapiens_hsa049220.76738233
68Endocytosis_Homo sapiens_hsa041440.74890552
69Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.72137259
70MAPK signaling pathway_Homo sapiens_hsa040100.71814272
71Alcoholism_Homo sapiens_hsa050340.71751397
72Lysosome_Homo sapiens_hsa041420.71687204
73Endometrial cancer_Homo sapiens_hsa052130.70934856
74Choline metabolism in cancer_Homo sapiens_hsa052310.70796538
75Vibrio cholerae infection_Homo sapiens_hsa051100.70767400
76Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69978823
77Biosynthesis of amino acids_Homo sapiens_hsa012300.69776578
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.69517720
79Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68361476
80Non-small cell lung cancer_Homo sapiens_hsa052230.67577982
81Insulin signaling pathway_Homo sapiens_hsa049100.65402799
82Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65385037
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61483820
84Rap1 signaling pathway_Homo sapiens_hsa040150.59668618
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.59367463
86Arginine and proline metabolism_Homo sapiens_hsa003300.57683039
87Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.57033180
88Salmonella infection_Homo sapiens_hsa051320.56901181
89Central carbon metabolism in cancer_Homo sapiens_hsa052300.56163404
90Pentose phosphate pathway_Homo sapiens_hsa000300.54691210
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.53807798
92Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.53684895
93Circadian rhythm_Homo sapiens_hsa047100.53250738
94Inositol phosphate metabolism_Homo sapiens_hsa005620.52186226
95Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.51104148
96Ras signaling pathway_Homo sapiens_hsa040140.49958384
97Type I diabetes mellitus_Homo sapiens_hsa049400.49772276
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49407478
99Colorectal cancer_Homo sapiens_hsa052100.47637008
100Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45946349
101Bile secretion_Homo sapiens_hsa049760.45627609
102Renal cell carcinoma_Homo sapiens_hsa052110.44767794
103Chemokine signaling pathway_Homo sapiens_hsa040620.44638070
104B cell receptor signaling pathway_Homo sapiens_hsa046620.43701471
105AMPK signaling pathway_Homo sapiens_hsa041520.43567618
106HIF-1 signaling pathway_Homo sapiens_hsa040660.43325413
107Prolactin signaling pathway_Homo sapiens_hsa049170.42958657
108Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.42456098
109T cell receptor signaling pathway_Homo sapiens_hsa046600.41548567
110Prion diseases_Homo sapiens_hsa050200.40651567
111Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40532925
112Arginine biosynthesis_Homo sapiens_hsa002200.40435356
113Tuberculosis_Homo sapiens_hsa051520.40400031
114Wnt signaling pathway_Homo sapiens_hsa043100.39864986
115Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.38857262
116Galactose metabolism_Homo sapiens_hsa000520.38513514
117Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.38384601
118Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.38102515
119SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36282894
120Platelet activation_Homo sapiens_hsa046110.35257134
121Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.29326092

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