ATN1

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: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)4.51270551
2locomotory exploration behavior (GO:0035641)4.31095368
3sodium ion export (GO:0071436)4.28195629
4layer formation in cerebral cortex (GO:0021819)3.93220571
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.87114478
6cytoskeletal anchoring at plasma membrane (GO:0007016)3.87033554
7plasma membrane repair (GO:0001778)3.80613182
8cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.78264522
9synaptic vesicle docking involved in exocytosis (GO:0016081)3.75082110
10cell communication by electrical coupling (GO:0010644)3.68494763
11regulation of short-term neuronal synaptic plasticity (GO:0048172)3.67960559
12protein retention in ER lumen (GO:0006621)3.34333627
13negative regulation of cell size (GO:0045792)3.28358340
14vocalization behavior (GO:0071625)3.19301055
15cerebellar Purkinje cell layer development (GO:0021680)3.14954161
16cellular potassium ion homeostasis (GO:0030007)3.14762379
17endothelial cell chemotaxis (GO:0035767)3.14015038
18maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.12262406
19glutamate secretion (GO:0014047)3.11706474
20activation of protein kinase A activity (GO:0034199)3.07145724
21stress fiber assembly (GO:0043149)3.05211119
22cell migration in hindbrain (GO:0021535)3.04537005
23negative regulation of catenin import into nucleus (GO:0035414)3.03926129
24regulation of clathrin-mediated endocytosis (GO:2000369)3.03328336
25neuronal ion channel clustering (GO:0045161)3.01496408
26establishment of nucleus localization (GO:0040023)3.00422002
27regulation of synapse structural plasticity (GO:0051823)2.97852330
28dendritic spine morphogenesis (GO:0060997)2.96566394
29regulation of synapse maturation (GO:0090128)2.94871392
30regulation of NFAT protein import into nucleus (GO:0051532)2.94860666
31positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.93822397
32regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.85879767
33positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.85278739
34adherens junction assembly (GO:0034333)2.83799854
35positive regulation of synapse maturation (GO:0090129)2.83043520
36regulation of ARF protein signal transduction (GO:0032012)2.82189286
37negative regulation of fatty acid transport (GO:2000192)2.81793877
38exploration behavior (GO:0035640)2.81033650
39synaptic vesicle exocytosis (GO:0016079)2.80905675
40neuromuscular process controlling balance (GO:0050885)2.78250632
41amino acid import (GO:0043090)2.77757546
42cell communication involved in cardiac conduction (GO:0086065)2.76790096
43regulation of early endosome to late endosome transport (GO:2000641)2.75135625
44regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.75081634
45proline transport (GO:0015824)2.73907816
46planar cell polarity pathway involved in neural tube closure (GO:0090179)2.71097275
47regulation of synaptic vesicle exocytosis (GO:2000300)2.69307936
48regulation of glutamate receptor signaling pathway (GO:1900449)2.68486549
49insulin-like growth factor receptor signaling pathway (GO:0048009)2.66580609
50cardiac myofibril assembly (GO:0055003)2.66053178
51postsynaptic membrane organization (GO:0001941)2.65236173
52peptidyl-tyrosine autophosphorylation (GO:0038083)2.65229585
53protein heterotrimerization (GO:0070208)2.64300413
54basement membrane organization (GO:0071711)2.64238691
55protein targeting to plasma membrane (GO:0072661)2.62115971
56dendrite morphogenesis (GO:0048813)2.60593236
57potassium ion import (GO:0010107)2.58706165
58synaptic vesicle endocytosis (GO:0048488)2.57151737
59activation of Rac GTPase activity (GO:0032863)2.57121183
60Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.57098415
61positive regulation of fibroblast migration (GO:0010763)2.56398737
62regulation of ARF GTPase activity (GO:0032312)2.55777832
63positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.54193625
64regulation of glucose import in response to insulin stimulus (GO:2001273)2.52148151
65peripheral nervous system axon ensheathment (GO:0032292)2.50813692
66myelination in peripheral nervous system (GO:0022011)2.50813692
67negative regulation of potassium ion transmembrane transport (GO:1901380)2.50606701
68neurotransmitter secretion (GO:0007269)2.49852390
69dendritic spine organization (GO:0097061)2.49276871
70polarized epithelial cell differentiation (GO:0030859)2.48636661
71cell volume homeostasis (GO:0006884)2.47855918
72dopamine receptor signaling pathway (GO:0007212)2.47587606
73membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.47555704
74hippo signaling (GO:0035329)2.47043533
75cerebellar Purkinje cell differentiation (GO:0021702)2.46538558
76focal adhesion assembly (GO:0048041)2.46290260
77cell-substrate adherens junction assembly (GO:0007045)2.46290260
78growth hormone secretion (GO:0030252)2.46271129
79cellular sodium ion homeostasis (GO:0006883)2.46244670
80convergent extension (GO:0060026)2.45917232
81positive regulation of axon extension (GO:0045773)2.43332069
82regulation of establishment of planar polarity (GO:0090175)2.43076183
83regulation of neuronal synaptic plasticity (GO:0048168)2.42688626
84L-amino acid import (GO:0043092)2.42600959
85establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.41829555
86glucocorticoid receptor signaling pathway (GO:0042921)2.41196032
87regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.40605555
88potassium ion homeostasis (GO:0055075)2.39984991
89regulation of tight junction assembly (GO:2000810)2.39653603
90positive regulation of histone deacetylation (GO:0031065)2.39328381
91positive regulation of glycogen biosynthetic process (GO:0045725)2.39026042
92neural tube development (GO:0021915)2.38361629
93regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.37878053
94membrane repolarization (GO:0086009)2.37643678
95retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.37445439
96regulation of synaptic plasticity (GO:0048167)2.36995334
97cellular response to monoamine stimulus (GO:0071868)2.36269839
98cellular response to catecholamine stimulus (GO:0071870)2.36269839
99vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.36007222
100regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.35923526
101mating behavior (GO:0007617)2.34602460
102cell-cell junction maintenance (GO:0045217)2.34589691
103apical protein localization (GO:0045176)2.34227438
104protein localization to endosome (GO:0036010)2.33614053
105negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.32745010
106negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.32465851
107neuron projection extension involved in neuron projection guidance (GO:1902284)2.31394120
108axon extension involved in axon guidance (GO:0048846)2.31394120
109collecting duct development (GO:0072044)2.30875753
110peptidyl-lysine dimethylation (GO:0018027)2.30216857
111cell-substrate junction assembly (GO:0007044)2.29296037
112regulation of long-term neuronal synaptic plasticity (GO:0048169)2.29046165
113atrioventricular valve morphogenesis (GO:0003181)2.29039138
114negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.29024510
115regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.28716016
116regulation of synaptic vesicle transport (GO:1902803)2.28381188
117glycine transport (GO:0015816)2.27631029
118COPI coating of Golgi vesicle (GO:0048205)2.26253286
119Golgi transport vesicle coating (GO:0048200)2.26253286
120positive regulation of dendrite development (GO:1900006)2.25443996
121cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.25191634
122response to parathyroid hormone (GO:0071107)2.24961807
123ionotropic glutamate receptor signaling pathway (GO:0035235)2.24447686
124positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.24103761
125positive regulation of sodium ion transport (GO:0010765)2.22920327
126semaphorin-plexin signaling pathway (GO:0071526)2.22640540
127cochlea morphogenesis (GO:0090103)2.22517550
128regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.22496591
129alanine transport (GO:0032328)2.22277587
130cerebellar granule cell differentiation (GO:0021707)2.22013464
131activation of MAPKKK activity (GO:0000185)2.19956456
132regulation of hippo signaling (GO:0035330)2.19470908
133axonal fasciculation (GO:0007413)2.19330105
134negative regulation of nucleotide catabolic process (GO:0030812)2.19178919
135signal complex assembly (GO:0007172)2.19085063
136membrane repolarization during action potential (GO:0086011)2.18904813
137regulation of p38MAPK cascade (GO:1900744)2.18655873
138myelin maintenance (GO:0043217)2.17044350
139camera-type eye morphogenesis (GO:0048593)2.16824802
140G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.16241388
141intracellular estrogen receptor signaling pathway (GO:0030520)2.15809869
142cell junction maintenance (GO:0034331)2.15564260

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse3.01972721
2ZFP281_18757296_ChIP-ChIP_E14_Mouse2.64002878
3NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.53539233
4KDM2B_26808549_Chip-Seq_SUP-B15_Human2.52709624
5EZH2_22144423_ChIP-Seq_EOC_Human2.36085442
6WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.30876431
7KDM2B_26808549_Chip-Seq_K562_Human2.30633534
8* KDM2B_26808549_Chip-Seq_DND41_Human2.22519291
9STAT6_21828071_ChIP-Seq_BEAS2B_Human2.19487343
10LXR_22292898_ChIP-Seq_THP-1_Human2.12721054
11ZFP281_27345836_Chip-Seq_ESCs_Mouse2.12409823
12TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.12134448
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.11862738
14* DROSHA_22980978_ChIP-Seq_HELA_Human2.07501572
15TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.97882965
16SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.96175416
17ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.96153538
18RARB_27405468_Chip-Seq_BRAIN_Mouse1.93961510
19RNF2_18974828_ChIP-Seq_MESCs_Mouse1.92996128
20EZH2_18974828_ChIP-Seq_MESCs_Mouse1.92996128
21RARG_19884340_ChIP-ChIP_MEFs_Mouse1.92132192
22DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.91205383
23* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.85979263
24EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.85756924
25KDM2B_26808549_Chip-Seq_JURKAT_Human1.81707096
26* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.81633708
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.77333505
28TP63_17297297_ChIP-ChIP_HaCaT_Human1.73439374
29ELK3_25401928_ChIP-Seq_HUVEC_Human1.73138406
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.70825099
31SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.70208572
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.69210549
33ZNF263_19887448_ChIP-Seq_K562_Human1.67809282
34DNAJC2_21179169_ChIP-ChIP_NT2_Human1.65228044
35MYC_22102868_ChIP-Seq_BL_Human1.64505887
36* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.62622401
37IKZF1_21737484_ChIP-ChIP_HCT116_Human1.62467619
38JARID2_20075857_ChIP-Seq_MESCs_Mouse1.62430650
39* TCF7_22412390_ChIP-Seq_EML_Mouse1.61258088
40MTF2_20144788_ChIP-Seq_MESCs_Mouse1.60910945
41* RACK7_27058665_Chip-Seq_MCF-7_Human1.60438207
42TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.59880176
43* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.59162524
44TRIM28_21343339_ChIP-Seq_HEK293_Human1.58427700
45SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.53438725
46PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.53111220
47RNF2_27304074_Chip-Seq_ESCs_Mouse1.53022575
48JARID2_20064375_ChIP-Seq_MESCs_Mouse1.51321590
49SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.49202914
50EGR1_19374776_ChIP-ChIP_THP-1_Human1.48790221
51SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.48668040
52* CREB1_26743006_Chip-Seq_LNCaP_Human1.46954538
53EZH2_27294783_Chip-Seq_ESCs_Mouse1.46603251
54* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.44725709
55SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.44616129
56RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.44412466
57SUZ12_27294783_Chip-Seq_ESCs_Mouse1.43877421
58CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.41157648
59UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.39068142
60WT1_25993318_ChIP-Seq_PODOCYTE_Human1.37614101
61CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.37088102
62EZH2_27304074_Chip-Seq_ESCs_Mouse1.35232486
63TET1_21451524_ChIP-Seq_MESCs_Mouse1.34243376
64GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33811658
65SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.32893393
66SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.29818483
67RING1B_27294783_Chip-Seq_ESCs_Mouse1.24620640
68SMC4_20622854_ChIP-Seq_HELA_Human1.23873562
69ESR1_21235772_ChIP-Seq_MCF-7_Human1.23618454
70PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.23580906
71* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.22604754
72* NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.22290992
73CLOCK_20551151_ChIP-Seq_293T_Human1.21607892
74* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.19959407
75ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.19349763
76RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.19147454
77TP53_20018659_ChIP-ChIP_R1E_Mouse1.18450822
78KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.18152528
79RING1B_27294783_Chip-Seq_NPCs_Mouse1.17031894
80TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16747957
81EED_16625203_ChIP-ChIP_MESCs_Mouse1.15773972
82ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.15549365
83TBX20_22080862_ChIP-Seq_HEART_Mouse1.14756900
84TBX20_22328084_ChIP-Seq_HEART_Mouse1.14756900
85SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.14145574
86RUNX1_27514584_Chip-Seq_MCF-7_Human1.13392949
87SRY_22984422_ChIP-ChIP_TESTIS_Rat1.11796881
88CTCF_27219007_Chip-Seq_Bcells_Human1.11770259
89TET1_21490601_ChIP-Seq_MESCs_Mouse1.11087596
90* ISL1_27105846_Chip-Seq_CPCs_Mouse1.10489526
91MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.09999064
92P68_20966046_ChIP-Seq_HELA_Human1.08640263
93TP53_23651856_ChIP-Seq_MEFs_Mouse1.07935209
94REST_18959480_ChIP-ChIP_MESCs_Mouse1.06393769
95* ATF3_27146783_Chip-Seq_COLON_Human1.06036533
96OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.05785231
97ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.05006229
98REST_21632747_ChIP-Seq_MESCs_Mouse1.04873690
99ESR1_20079471_ChIP-ChIP_T-47D_Human1.03703888
100VDR_21846776_ChIP-Seq_THP-1_Human1.02921086
101NFIB_24661679_ChIP-Seq_LUNG_Mouse1.02804224
102SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.02131525
103PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.01820638
104KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.00073845
105SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99730918
106* TP53_22127205_ChIP-Seq_IMR90_Human0.99639032
107SOX9_24532713_ChIP-Seq_HFSC_Mouse0.99566626
108TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.99452966
109EP300_21415370_ChIP-Seq_HL-1_Mouse0.99289466
110VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99285946
111* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.97959264
112CTCF_27219007_Chip-Seq_ERYTHROID_Human0.95207513
113TP63_22573176_ChIP-Seq_HFKS_Human0.95018460
114FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.94011500
115SA1_27219007_Chip-Seq_ERYTHROID_Human0.92945820
116ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92677175

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.37090339
2MP0003705_abnormal_hypodermis_morpholog3.56534968
3MP0005623_abnormal_meninges_morphology2.85751745
4MP0004858_abnormal_nervous_system2.73099135
5MP0005409_darkened_coat_color2.57681608
6MP0000751_myopathy2.48278882
7MP0002249_abnormal_larynx_morphology2.46377070
8MP0003283_abnormal_digestive_organ2.39934922
9MP0008961_abnormal_basal_metabolism2.33969427
10MP0009780_abnormal_chondrocyte_physiolo2.17568971
11MP0003635_abnormal_synaptic_transmissio2.10281040
12MP0005076_abnormal_cell_differentiation2.06315876
13MP0004233_abnormal_muscle_weight1.96802972
14MP0005257_abnormal_intraocular_pressure1.94570914
15MP0008438_abnormal_cutaneous_collagen1.93068195
16MP0002653_abnormal_ependyma_morphology1.83067009
17MP0002909_abnormal_adrenal_gland1.81693822
18MP0000566_synostosis1.78154995
19MP0004270_analgesia1.67502177
20MP0004084_abnormal_cardiac_muscle1.66129344
21MP0003879_abnormal_hair_cell1.64507008
22MP0003122_maternal_imprinting1.59348337
23MP0000534_abnormal_ureter_morphology1.58292898
24MP0002837_dystrophic_cardiac_calcinosis1.58065189
25MP0001502_abnormal_circadian_rhythm1.57972571
26MP0000678_abnormal_parathyroid_gland1.57109864
27MP0000733_abnormal_muscle_development1.56058306
28MP0004087_abnormal_muscle_fiber1.52481468
29MP0001849_ear_inflammation1.52408565
30MP0010030_abnormal_orbit_morphology1.51036814
31MP0005670_abnormal_white_adipose1.49890778
32MP0002234_abnormal_pharynx_morphology1.49779824
33MP0000003_abnormal_adipose_tissue1.48855879
34MP0002089_abnormal_postnatal_growth/wei1.46095548
35MP0002063_abnormal_learning/memory/cond1.44720596
36MP0000579_abnormal_nail_morphology1.44148148
37MP0008569_lethality_at_weaning1.41717144
38MP0003279_aneurysm1.38569305
39MP0000537_abnormal_urethra_morphology1.38377064
40MP0002734_abnormal_mechanical_nocicepti1.36650625
41MP0003566_abnormal_cell_adhesion1.35527610
42MP0001958_emphysema1.35470002
43MP0003329_amyloid_beta_deposits1.34148673
44MP0010352_gastrointestinal_tract_polyps1.33087308
45MP0003634_abnormal_glial_cell1.31615174
46MP0001348_abnormal_lacrimal_gland1.29900541
47MP0005275_abnormal_skin_tensile1.29148174
48MP0003300_gastrointestinal_ulcer1.29120702
49MP0003045_fibrosis1.28339165
50MP0005503_abnormal_tendon_morphology1.27584962
51MP0004885_abnormal_endolymph1.27012028
52MP0000013_abnormal_adipose_tissue1.25750787
53MP0004145_abnormal_muscle_electrophysio1.24943580
54MP0003385_abnormal_body_wall1.24678384
55MP0003880_abnormal_central_pattern1.23682014
56MP0001299_abnormal_eye_distance/1.23259451
57MP0004130_abnormal_muscle_cell1.22800812
58MP0010630_abnormal_cardiac_muscle1.22138954
59MP0003091_abnormal_cell_migration1.21926972
60MP0002064_seizures1.21689500
61MP0004811_abnormal_neuron_physiology1.21216389
62MP0000750_abnormal_muscle_regeneration1.20836620
63MP0000747_muscle_weakness1.20084713
64MP0000428_abnormal_craniofacial_morphol1.19887459
65MP0005423_abnormal_somatic_nervous1.18244534
66MP0003115_abnormal_respiratory_system1.16268059
67MP0000759_abnormal_skeletal_muscle1.14973654
68MP0005375_adipose_tissue_phenotype1.14332987
69MP0003137_abnormal_impulse_conducting1.12285954
70MP0004272_abnormal_basement_membrane1.10479530
71MP0010368_abnormal_lymphatic_system1.10271855
72MP0003942_abnormal_urinary_system1.09898550
73MP0005187_abnormal_penis_morphology1.08319840
74MP0003690_abnormal_glial_cell1.05843284
75MP0002269_muscular_atrophy1.05172646
76MP0000569_abnormal_digit_pigmentation1.04969280
77MP0002896_abnormal_bone_mineralization1.04667374
78MP0009046_muscle_twitch1.04301241
79MP0010234_abnormal_vibrissa_follicle1.02786896
80MP0009278_abnormal_bone_marrow1.01991129
81MP0002108_abnormal_muscle_morphology1.01891933
82MP0005330_cardiomyopathy1.01623323
83MP0009745_abnormal_behavioral_response1.00340697
84MP0005171_absent_coat_pigmentation0.99767416
85MP0009384_cardiac_valve_regurgitation0.99602143
86MP0003119_abnormal_digestive_system0.98797788
87MP0009053_abnormal_anal_canal0.98647982
88MP0004510_myositis0.98629861
89MP0006138_congestive_heart_failure0.98360491
90MP0000955_abnormal_spinal_cord0.98174204
91MP0000778_abnormal_nervous_system0.98117894
92MP0003172_abnormal_lysosome_physiology0.95956110
93MP0002060_abnormal_skin_morphology0.94979859
94MP0001486_abnormal_startle_reflex0.94916494
95MP0005058_abnormal_lysosome_morphology0.94821513
96MP0000920_abnormal_myelination0.94092691
97MP0000767_abnormal_smooth_muscle0.93545513
98MP0002106_abnormal_muscle_physiology0.91139867
99MP0004185_abnormal_adipocyte_glucose0.90663136
100MP0000462_abnormal_digestive_system0.89932859
101MP0002272_abnormal_nervous_system0.89405484
102MP0005369_muscle_phenotype0.89194239
103MP0004085_abnormal_heartbeat0.88645486
104MP0000681_abnormal_thyroid_gland0.88460931
105MP0004215_abnormal_myocardial_fiber0.88407886
106MP0003453_abnormal_keratinocyte_physiol0.88071031
107MP0004036_abnormal_muscle_relaxation0.87891850
108MP0000762_abnormal_tongue_morphology0.87544292
109MP0003646_muscle_fatigue0.87052904
110MP0002184_abnormal_innervation0.86570454
111MP0002572_abnormal_emotion/affect_behav0.85867790
112MP0003935_abnormal_craniofacial_develop0.85502521
113MP0003123_paternal_imprinting0.83511335
114MP0003303_peritoneal_inflammation0.83124746
115MP0002882_abnormal_neuron_morphology0.83044616
116MP0002925_abnormal_cardiovascular_devel0.82984109
117MP0002932_abnormal_joint_morphology0.82130544
118MP0002877_abnormal_melanocyte_morpholog0.81715429
119MP0001544_abnormal_cardiovascular_syste0.81380511
120MP0005385_cardiovascular_system_phenoty0.81380511
121MP0002152_abnormal_brain_morphology0.80857543
122MP0009672_abnormal_birth_weight0.80373743
123MP0001346_abnormal_lacrimal_gland0.80179352
124MP0002822_catalepsy0.79592498
125MP0005620_abnormal_muscle_contractility0.79556986
126MP0000266_abnormal_heart_morphology0.79385822
127MP0001177_atelectasis0.78989905
128MP0005666_abnormal_adipose_tissue0.78479282
129MP0002972_abnormal_cardiac_muscle0.78469130
130MP0005508_abnormal_skeleton_morphology0.78454827
131MP0004484_altered_response_of0.77695533
132MP0002066_abnormal_motor_capabilities/c0.77654821
133MP0001970_abnormal_pain_threshold0.77284065
134MP0003861_abnormal_nervous_system0.77000125
135MP0002733_abnormal_thermal_nociception0.76668108
136MP0002116_abnormal_craniofacial_bone0.76645902
137MP0002735_abnormal_chemical_nociception0.75321563
138MP0001501_abnormal_sleep_pattern0.75147664
139MP0002557_abnormal_social/conspecific_i0.73429497

Predicted human phenotypes

RankGene SetZ-score
1Shallow orbits (HP:0000586)4.16912992
2Protrusio acetabuli (HP:0003179)3.61054662
3Cerebral aneurysm (HP:0004944)3.32738488
4Hyperacusis (HP:0010780)3.28491686
5Broad metatarsal (HP:0001783)3.17963846
6Broad face (HP:0000283)2.93330337
7Premature rupture of membranes (HP:0001788)2.87096559
8Ankle contracture (HP:0006466)2.74274349
9Neurofibrillary tangles (HP:0002185)2.72270268
10Abnormality of the lower motor neuron (HP:0002366)2.71565121
11Upper limb amyotrophy (HP:0009129)2.69112176
12Distal upper limb amyotrophy (HP:0007149)2.69112176
13Insomnia (HP:0100785)2.64345760
14Bladder diverticulum (HP:0000015)2.63838018
15Renal duplication (HP:0000075)2.60794989
16Cerebral inclusion bodies (HP:0100314)2.51394417
17Elfin facies (HP:0004428)2.49867774
18Bundle branch block (HP:0011710)2.49568222
19Enlarged penis (HP:0000040)2.48096767
20Macroorchidism (HP:0000053)2.47774868
21Visual hallucinations (HP:0002367)2.41779116
22Dysmetric saccades (HP:0000641)2.40974875
23Ventricular fibrillation (HP:0001663)2.37887165
24Pointed chin (HP:0000307)2.37767111
25Turricephaly (HP:0000262)2.33064601
26Hand muscle atrophy (HP:0009130)2.32633007
27Bowel diverticulosis (HP:0005222)2.32117527
28Myokymia (HP:0002411)2.30325582
29Genu recurvatum (HP:0002816)2.28537356
30Mitral regurgitation (HP:0001653)2.26920526
31Difficulty running (HP:0009046)2.24812582
32Increased variability in muscle fiber diameter (HP:0003557)2.24167234
33Mildly elevated creatine phosphokinase (HP:0008180)2.24022060
34Increased connective tissue (HP:0009025)2.20662703
35Sudden death (HP:0001699)2.20348053
36Action tremor (HP:0002345)2.18771958
37Obstructive sleep apnea (HP:0002870)2.17290774
38Renovascular hypertension (HP:0100817)2.17071744
39Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.14300158
40Short 4th metacarpal (HP:0010044)2.14300158
41Deviation of the hallux (HP:0010051)2.14186502
42Disproportionate tall stature (HP:0001519)2.14113869
43Overriding aorta (HP:0002623)2.14003717
44Hypercortisolism (HP:0001578)2.13351637
45Dilatation of the ascending aorta (HP:0005111)2.12956585
46Neonatal short-limb short stature (HP:0008921)2.12903060
47Difficulty climbing stairs (HP:0003551)2.12775248
48Mitral valve prolapse (HP:0001634)2.11635516
49Annular pancreas (HP:0001734)2.11177364
50Type 1 muscle fiber predominance (HP:0003803)2.10315889
51Lymphangioma (HP:0100764)2.09677140
52Hemiplegia (HP:0002301)2.08100146
53Sleep apnea (HP:0010535)2.07995640
54Hallux valgus (HP:0001822)2.06974437
55Neoplasm of the heart (HP:0100544)2.06849417
56Distal lower limb amyotrophy (HP:0008944)2.05585973
57Wormian bones (HP:0002645)2.05169934
58Bronchomalacia (HP:0002780)2.04936483
59Achilles tendon contracture (HP:0001771)2.03656379
60Vascular tortuosity (HP:0004948)2.03553921
61Focal seizures (HP:0007359)2.02669451
62Aplasia involving bones of the upper limbs (HP:0009823)2.00648867
63Aplasia of the phalanges of the hand (HP:0009802)2.00648867
64Aplasia involving bones of the extremities (HP:0009825)2.00648867
65Aneurysm (HP:0002617)1.99561017
66Biconcave vertebral bodies (HP:0004586)1.99012046
67Arterial tortuosity (HP:0005116)1.98875511
68Diplopia (HP:0000651)1.98795817
69Abnormality of binocular vision (HP:0011514)1.98795817
70Flat cornea (HP:0007720)1.98609094
71Supranuclear gaze palsy (HP:0000605)1.98365451
72Hypoventilation (HP:0002791)1.96689403
73Abnormality of the 4th metacarpal (HP:0010012)1.95242351
74Atrophic scars (HP:0001075)1.94334905
75Thin ribs (HP:0000883)1.93835936
76Long palpebral fissure (HP:0000637)1.93284527
77Buphthalmos (HP:0000557)1.91557938
78Abnormality of skeletal muscle fiber size (HP:0012084)1.87342280
79Hyperparathyroidism (HP:0000843)1.87216323
80Vertebral arch anomaly (HP:0008438)1.86476304
81Hyporeflexia of lower limbs (HP:0002600)1.86301163
82Nuclear cataract (HP:0100018)1.84210612
83Muscle fiber splitting (HP:0003555)1.83640996
84Stridor (HP:0010307)1.81363118
85Blue sclerae (HP:0000592)1.80543429
86Lower limb amyotrophy (HP:0007210)1.80237139
87Urethral obstruction (HP:0000796)1.80178082
88Long toe (HP:0010511)1.79261830
89Abnormality of the Achilles tendon (HP:0005109)1.78854240
90Advanced eruption of teeth (HP:0006288)1.78320523
91Abnormality of the aortic arch (HP:0012303)1.77634507
92Abnormality of the distal phalanx of the thumb (HP:0009617)1.77615973
93Vertebral compression fractures (HP:0002953)1.75802924
94Abnormal social behavior (HP:0012433)1.75005826
95Impaired social interactions (HP:0000735)1.75005826
96Hyperextensible skin (HP:0000974)1.74967220
97Fragile skin (HP:0001030)1.74498361
98Abnormality of dentin (HP:0010299)1.73104157
99Overgrowth (HP:0001548)1.71973332
100Aortic aneurysm (HP:0004942)1.71311533
101Arnold-Chiari malformation (HP:0002308)1.71135120
102Rapidly progressive (HP:0003678)1.71086694
103Striae distensae (HP:0001065)1.70892512
104Trigonocephaly (HP:0000243)1.70770205
105Depression (HP:0000716)1.70546192
106Scapular winging (HP:0003691)1.70340076
107Hammertoe (HP:0001765)1.70033795
108Coronal craniosynostosis (HP:0004440)1.68923355
109Joint laxity (HP:0001388)1.68276954
110Wide anterior fontanel (HP:0000260)1.68245999
111Long eyelashes (HP:0000527)1.67256054
112Atelectasis (HP:0100750)1.67008300
113Abnormality of the fingertips (HP:0001211)1.66715994
114Truncal ataxia (HP:0002078)1.66681612
115Patellar dislocation (HP:0002999)1.66305618
116Spinal rigidity (HP:0003306)1.66081187
117Aortic dissection (HP:0002647)1.65359897
118Right ventricular cardiomyopathy (HP:0011663)1.65310387
119Mild short stature (HP:0003502)1.65196514
120Narrow palate (HP:0000189)1.64902215
121Broad thumb (HP:0011304)1.64892134
122Congenital glaucoma (HP:0001087)1.64873339
123Thin bony cortex (HP:0002753)1.64468667
124Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.63250417
125Cervical subluxation (HP:0003308)1.62585144
126Flat acetabular roof (HP:0003180)1.61916379
127Megalencephaly (HP:0001355)1.61533329
128Premature skin wrinkling (HP:0100678)1.60472915
129Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.60235456
130Progressive cerebellar ataxia (HP:0002073)1.59967918
131Germ cell neoplasia (HP:0100728)1.58501734
132Asymmetry of the thorax (HP:0001555)1.57721088
133Ankle clonus (HP:0011448)1.57622731
134Spinal canal stenosis (HP:0003416)1.57540058
135Laryngomalacia (HP:0001601)1.56348542
136Myotonia (HP:0002486)1.55288368
137Ventricular arrhythmia (HP:0004308)1.55034638
138Sacral dimple (HP:0000960)1.54541350
139Ulnar bowing (HP:0003031)1.53364410
140Ventricular tachycardia (HP:0004756)1.53152779
141Torticollis (HP:0000473)1.51856849
142Precocious puberty (HP:0000826)1.51291502
143Increased density of long bones (HP:0006392)1.50409608
144Exercise-induced myalgia (HP:0003738)1.50379593
145Atrioventricular block (HP:0001678)1.49565186
146Primary atrial arrhythmia (HP:0001692)1.48933678

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.48058436
2PKN22.72710661
3RIPK12.59011876
4MAP3K92.45299130
5PRKD32.44247420
6LATS22.31922530
7SMG12.30758271
8PDGFRA2.18808576
9PAK62.12031503
10PRPF4B2.11249320
11DDR22.06965325
12ICK2.03587395
13TTN2.03159116
14EEF2K1.99924600
15TAOK11.92093298
16ERN11.89397250
17CDK121.82547407
18SIK11.76528192
19CAMKK11.75674718
20DMPK1.70688245
21TYRO31.68992227
22SIK21.64866648
23MARK11.64738910
24BMX1.62708948
25CAMK1G1.58651985
26ALK1.56744473
27MAP3K101.56208121
28STK381.55873353
29LMTK21.46447589
30KSR21.45759460
31NTRK31.44797420
32NTRK11.40807519
33PTK61.39014174
34DAPK21.33029685
35MINK11.30268652
36PHKG11.27921482
37PHKG21.27921482
38EPHA21.26063894
39NTRK21.24642972
40PTK21.23108754
41TESK11.18305636
42NEK11.15873009
43PRKCH1.15589129
44PAK31.14068665
45MTOR1.11900298
46EPHB21.11513287
47CAMK1D1.09509729
48RET1.07642625
49CDC42BPA1.05525145
50MAP3K71.03555894
51MARK21.01869093
52MAP3K40.97999908
53ARAF0.95987356
54LATS10.92226508
55PAK20.85766063
56IRAK30.85209404
57STK110.83269239
58WNK10.82279649
59UHMK10.81464984
60KSR10.81207134
61EPHA40.80353018
62FGFR10.78506548
63MST1R0.77989679
64MAP3K130.77054160
65CDK50.76325556
66TNK20.75495413
67SGK30.73768647
68PDGFRB0.73651067
69FER0.73360460
70SGK2230.72485437
71SGK4940.72485437
72EPHB10.72163678
73MET0.71264497
74PRKD10.70610690
75PRKD20.70479574
76CAMK40.69659877
77PAK40.67310889
78CAMK10.66506490
79LRRK20.64464421
80MAPK150.64308727
81MAP2K40.63555635
82ILK0.63455851
83MAP3K20.63416930
84RPS6KA20.61942350
85ROCK10.60735472
86MAP3K60.59562115
87FGFR20.57381889
88ERBB20.56564779
89CAMK2B0.55653471
90RPS6KC10.55650276
91RPS6KL10.55650276
92* MAPK100.55337655
93CDK150.54674766
94MAPK120.54423301
95SCYL20.53755255
96CDK180.50907165
97MAP3K10.50356162
98DAPK30.49899587
99PTK2B0.49371275
100CDK140.49065321
101CDK11A0.48084586
102PDPK10.47685638
103CAMK2G0.47319468
104ROCK20.46803176
105BRAF0.44587434
106NEK60.44056594
107DAPK10.43324374
108TAOK20.41643485
109PNCK0.39715218
110FGFR40.39289132
111RPS6KA60.37074129
112PRKG20.37000504
113BRSK10.36977566
114MAP2K20.36776880
115PDK10.36751275
116* MAPK80.36735939
117SRC0.36603418
118FGFR30.36150194
119DYRK1B0.36039473
120* RPS6KA30.35874680
121BRD40.35176688
122PRKCZ0.35112302
123HIPK20.34640247
124RPS6KA10.34498564
125PRKAA10.34390220
126AKT20.34360017
127PRKCG0.34203373

Predicted pathways (KEGG)

RankGene SetZ-score
1Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.22397923
2Nitrogen metabolism_Homo sapiens_hsa009101.71851229
3Synaptic vesicle cycle_Homo sapiens_hsa047211.70608953
4Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.66466740
5Dilated cardiomyopathy_Homo sapiens_hsa054141.60649357
6Aldosterone synthesis and secretion_Homo sapiens_hsa049251.59684127
7Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.55597223
8Gastric acid secretion_Homo sapiens_hsa049711.49642913
9Long-term potentiation_Homo sapiens_hsa047201.48461742
10Circadian entrainment_Homo sapiens_hsa047131.48436813
11Glioma_Homo sapiens_hsa052141.48237357
12Type II diabetes mellitus_Homo sapiens_hsa049301.43944129
13mTOR signaling pathway_Homo sapiens_hsa041501.42039799
14Prion diseases_Homo sapiens_hsa050201.41793439
15Olfactory transduction_Homo sapiens_hsa047401.41084632
16Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.40472941
17Insulin secretion_Homo sapiens_hsa049111.38667303
18Estrogen signaling pathway_Homo sapiens_hsa049151.36451297
19Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.34132453
20Salivary secretion_Homo sapiens_hsa049701.28074315
21Thyroid hormone signaling pathway_Homo sapiens_hsa049191.27634840
22Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.27492688
23GABAergic synapse_Homo sapiens_hsa047271.26227568
24GnRH signaling pathway_Homo sapiens_hsa049121.25077067
25Focal adhesion_Homo sapiens_hsa045101.24277719
26Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.23311951
27Oxytocin signaling pathway_Homo sapiens_hsa049211.23201118
28Glutamatergic synapse_Homo sapiens_hsa047241.20984598
29Proteoglycans in cancer_Homo sapiens_hsa052051.20878407
30Endometrial cancer_Homo sapiens_hsa052131.19733745
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.19281506
32Cholinergic synapse_Homo sapiens_hsa047251.19111847
33Amphetamine addiction_Homo sapiens_hsa050311.18840779
34Dopaminergic synapse_Homo sapiens_hsa047281.18740181
35Neurotrophin signaling pathway_Homo sapiens_hsa047221.18178894
36Gap junction_Homo sapiens_hsa045401.17264978
37Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.16912583
38Chronic myeloid leukemia_Homo sapiens_hsa052201.14781724
39Melanogenesis_Homo sapiens_hsa049161.12932509
40Longevity regulating pathway - mammal_Homo sapiens_hsa042111.10307667
41VEGF signaling pathway_Homo sapiens_hsa043701.09268479
42Dorso-ventral axis formation_Homo sapiens_hsa043201.08946869
43Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.08872774
44Axon guidance_Homo sapiens_hsa043601.07415482
45ErbB signaling pathway_Homo sapiens_hsa040121.07056557
46Hippo signaling pathway_Homo sapiens_hsa043901.06935369
47Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.04904940
48Cocaine addiction_Homo sapiens_hsa050301.04216700
49cGMP-PKG signaling pathway_Homo sapiens_hsa040221.03120002
50Adherens junction_Homo sapiens_hsa045201.03046730
51Renal cell carcinoma_Homo sapiens_hsa052111.02654614
52Morphine addiction_Homo sapiens_hsa050320.99857211
53Insulin signaling pathway_Homo sapiens_hsa049100.98808326
54Basal cell carcinoma_Homo sapiens_hsa052170.98470619
55Renin secretion_Homo sapiens_hsa049240.98408198
56cAMP signaling pathway_Homo sapiens_hsa040240.97473046
57Hedgehog signaling pathway_Homo sapiens_hsa043400.97245602
58Notch signaling pathway_Homo sapiens_hsa043300.96791982
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.96142781
60Central carbon metabolism in cancer_Homo sapiens_hsa052300.95647252
61Carbohydrate digestion and absorption_Homo sapiens_hsa049730.94863243
62Non-small cell lung cancer_Homo sapiens_hsa052230.94753290
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.94112888
64Nicotine addiction_Homo sapiens_hsa050330.94042481
65Bladder cancer_Homo sapiens_hsa052190.90500757
66AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.89990086
67Amoebiasis_Homo sapiens_hsa051460.89496767
68ECM-receptor interaction_Homo sapiens_hsa045120.88449016
69Inositol phosphate metabolism_Homo sapiens_hsa005620.87310552
70Colorectal cancer_Homo sapiens_hsa052100.86505970
71Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.86168189
72Insulin resistance_Homo sapiens_hsa049310.85855818
73Endocytosis_Homo sapiens_hsa041440.84779757
74Rap1 signaling pathway_Homo sapiens_hsa040150.84644741
752-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.84323415
76Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.83816373
77Glycosaminoglycan degradation_Homo sapiens_hsa005310.83728335
78Tight junction_Homo sapiens_hsa045300.82546495
79Glucagon signaling pathway_Homo sapiens_hsa049220.81827715
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.81824328
81Long-term depression_Homo sapiens_hsa047300.80326773
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79957296
83Wnt signaling pathway_Homo sapiens_hsa043100.79952363
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.79816111
85AMPK signaling pathway_Homo sapiens_hsa041520.79781874
86MAPK signaling pathway_Homo sapiens_hsa040100.79424898
87Phosphatidylinositol signaling system_Homo sapiens_hsa040700.79360605
88Lysine degradation_Homo sapiens_hsa003100.78927774
89Regulation of actin cytoskeleton_Homo sapiens_hsa048100.78590854
90Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.77529457
91Vibrio cholerae infection_Homo sapiens_hsa051100.76902657
92Thyroid cancer_Homo sapiens_hsa052160.76490192
93Thyroid hormone synthesis_Homo sapiens_hsa049180.76399286
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.76094271
95Prostate cancer_Homo sapiens_hsa052150.73347500
96Choline metabolism in cancer_Homo sapiens_hsa052310.73082961
97Calcium signaling pathway_Homo sapiens_hsa040200.72526135
98Bile secretion_Homo sapiens_hsa049760.71992815
99Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.68967275
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.68127220
101Protein digestion and absorption_Homo sapiens_hsa049740.67741012
102Other glycan degradation_Homo sapiens_hsa005110.66762602
103MicroRNAs in cancer_Homo sapiens_hsa052060.66754791
104Pancreatic cancer_Homo sapiens_hsa052120.66732200
105Vascular smooth muscle contraction_Homo sapiens_hsa042700.65656683
106Prolactin signaling pathway_Homo sapiens_hsa049170.65622155
107Vitamin B6 metabolism_Homo sapiens_hsa007500.64918610
108Ras signaling pathway_Homo sapiens_hsa040140.64571689
109Viral myocarditis_Homo sapiens_hsa054160.63920902
110Acute myeloid leukemia_Homo sapiens_hsa052210.63833586
111Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.63258038
112Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62899455

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