DIRAS1

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: DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.65649449
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.37369293
3locomotory exploration behavior (GO:0035641)5.91450689
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.72775177
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.55873801
6glutamate secretion (GO:0014047)5.51030062
7synaptic vesicle exocytosis (GO:0016079)5.45876345
8vocalization behavior (GO:0071625)5.41411023
9regulation of synaptic vesicle exocytosis (GO:2000300)5.27510894
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.20539560
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.05061668
12regulation of glutamate receptor signaling pathway (GO:1900449)4.75064138
13neuronal action potential propagation (GO:0019227)4.70777459
14neurotransmitter secretion (GO:0007269)4.69027079
15regulation of synaptic vesicle transport (GO:1902803)4.66256031
16protein localization to synapse (GO:0035418)4.58738944
17cerebellar granule cell differentiation (GO:0021707)4.58597422
18layer formation in cerebral cortex (GO:0021819)4.52678448
19exploration behavior (GO:0035640)4.52070037
20regulation of synapse structural plasticity (GO:0051823)4.50505133
21regulation of neuronal synaptic plasticity (GO:0048168)4.46387722
22ionotropic glutamate receptor signaling pathway (GO:0035235)4.38603637
23gamma-aminobutyric acid transport (GO:0015812)4.37915788
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.34690067
25neuron cell-cell adhesion (GO:0007158)4.17897861
26dendritic spine morphogenesis (GO:0060997)4.16839539
27proline transport (GO:0015824)4.11137060
28cellular potassium ion homeostasis (GO:0030007)4.07580332
29synaptic transmission, glutamatergic (GO:0035249)4.04107902
30sodium ion export (GO:0071436)3.98773809
31L-amino acid import (GO:0043092)3.95721014
32neurotransmitter-gated ion channel clustering (GO:0072578)3.94446480
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.91545922
34potassium ion homeostasis (GO:0055075)3.83838425
35long-term memory (GO:0007616)3.82653968
36regulation of voltage-gated calcium channel activity (GO:1901385)3.82176636
37neuron-neuron synaptic transmission (GO:0007270)3.80465777
38glutamate receptor signaling pathway (GO:0007215)3.79438931
39positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.78914964
40cell communication involved in cardiac conduction (GO:0086065)3.78763694
41regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.75262443
42neuromuscular process controlling balance (GO:0050885)3.73301641
43cerebellar Purkinje cell differentiation (GO:0021702)3.73146232
44neurotransmitter transport (GO:0006836)3.72644314
45neuronal ion channel clustering (GO:0045161)3.72569411
46activation of protein kinase A activity (GO:0034199)3.70751251
47positive regulation of membrane potential (GO:0045838)3.70267766
48glycine transport (GO:0015816)3.67915199
49amino acid import (GO:0043090)3.67294138
50neuromuscular process controlling posture (GO:0050884)3.62358190
51regulation of excitatory postsynaptic membrane potential (GO:0060079)3.60276979
52positive regulation of synaptic transmission, GABAergic (GO:0032230)3.59328061
53negative regulation of dendrite morphogenesis (GO:0050774)3.56844322
54regulation of synapse maturation (GO:0090128)3.56389889
55detection of calcium ion (GO:0005513)3.52536985
56positive regulation of dendritic spine morphogenesis (GO:0061003)3.51553366
57cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.48654324
58regulation of neurotransmitter levels (GO:0001505)3.46684252
59regulation of synaptic plasticity (GO:0048167)3.46661525
60regulation of neurotransmitter secretion (GO:0046928)3.46200424
61regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.45765575
62regulation of dendritic spine morphogenesis (GO:0061001)3.43170221
63regulation of postsynaptic membrane potential (GO:0060078)3.42478421
64G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.40517435
65dendrite morphogenesis (GO:0048813)3.39839199
66cellular sodium ion homeostasis (GO:0006883)3.39379926
67cell communication by electrical coupling (GO:0010644)3.38645804
68auditory behavior (GO:0031223)3.38468842
69potassium ion import (GO:0010107)3.38394578
70regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.37591242
71positive regulation of synapse maturation (GO:0090129)3.36375246
72transmission of nerve impulse (GO:0019226)3.36361328
73response to auditory stimulus (GO:0010996)3.35167290
74synaptic vesicle endocytosis (GO:0048488)3.31156973
75prepulse inhibition (GO:0060134)3.31018292
76establishment of mitochondrion localization (GO:0051654)3.30780970
77positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.30419961
78cytoskeletal anchoring at plasma membrane (GO:0007016)3.30145135
79regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.29932117
80membrane depolarization during action potential (GO:0086010)3.29414256
81neuron recognition (GO:0008038)3.28011520
82cell migration in hindbrain (GO:0021535)3.26854441
83positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.25534793
84regulation of cell communication by electrical coupling (GO:0010649)3.23602801
85regulation of neurotransmitter transport (GO:0051588)3.21171560
86positive regulation of neurotransmitter transport (GO:0051590)3.21155978
87vesicle transport along microtubule (GO:0047496)3.20444480
88regulation of synaptic transmission, glutamatergic (GO:0051966)3.18401955
89regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.18263560
90negative regulation of synaptic transmission, GABAergic (GO:0032229)3.15434545
91membrane hyperpolarization (GO:0060081)3.13993949
92regulation of dendritic spine development (GO:0060998)3.13228688
93neuromuscular process (GO:0050905)3.13005329
94regulation of vesicle fusion (GO:0031338)3.12591520
95postsynaptic membrane organization (GO:0001941)3.10967758
96membrane depolarization (GO:0051899)3.10789158
97regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.10234720
98positive regulation of neurotransmitter secretion (GO:0001956)3.07447709
99long-term synaptic potentiation (GO:0060291)3.07419500
100axon cargo transport (GO:0008088)3.05340911
101negative regulation of microtubule polymerization (GO:0031115)3.05061340
102adult walking behavior (GO:0007628)3.03724695
103organelle transport along microtubule (GO:0072384)3.01507620
104axonal fasciculation (GO:0007413)3.00926580
105mating behavior (GO:0007617)2.99444291
106regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.99370885
107regulation of ARF protein signal transduction (GO:0032012)2.99296157
108positive regulation of dendritic spine development (GO:0060999)2.99143071
109learning (GO:0007612)2.97852343
110negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.97366176
111adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.96962861
112synapse assembly (GO:0007416)2.96944006
113mitochondrion transport along microtubule (GO:0047497)2.95811052
114establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.95811052
115cerebellar Purkinje cell layer development (GO:0021680)2.95534422
116synaptic transmission (GO:0007268)2.94586187
117dendritic spine organization (GO:0097061)2.94466317
118central nervous system myelination (GO:0022010)2.94176939
119axon ensheathment in central nervous system (GO:0032291)2.94176939
120regulation of synaptic transmission (GO:0050804)2.94075787
121positive regulation of synaptic transmission (GO:0050806)2.92916060
122intraspecies interaction between organisms (GO:0051703)2.92654550
123social behavior (GO:0035176)2.92654550
124innervation (GO:0060384)2.92480495
125gamma-aminobutyric acid signaling pathway (GO:0007214)2.91825798
126chemosensory behavior (GO:0007635)2.89297585

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.91766210
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12119836
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10294894
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.07830869
5GBX2_23144817_ChIP-Seq_PC3_Human3.00162479
6REST_21632747_ChIP-Seq_MESCs_Mouse2.86752459
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.82635215
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.82635215
9* RARB_27405468_Chip-Seq_BRAIN_Mouse2.77292131
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.74141668
11THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.71225114
12DROSHA_22980978_ChIP-Seq_HELA_Human2.70285825
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.62154425
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.58671911
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53865505
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.51646581
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.49072024
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47365714
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.40815831
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.40069310
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.38354900
22* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.36934409
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.31837196
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.27259085
25* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.26852238
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.19166133
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.17249523
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.12606084
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87152091
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81459684
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.76954691
32AR_21572438_ChIP-Seq_LNCaP_Human1.74171444
33ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.50347196
34* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.49718429
35DNAJC2_21179169_ChIP-ChIP_NT2_Human1.48113887
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.47503978
37SMAD4_21799915_ChIP-Seq_A2780_Human1.44500631
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.42490698
39RING1B_27294783_Chip-Seq_ESCs_Mouse1.40075452
40ZFP281_18757296_ChIP-ChIP_E14_Mouse1.37856882
41KDM2B_26808549_Chip-Seq_K562_Human1.36501448
42* LXR_22292898_ChIP-Seq_THP-1_Human1.33076988
43ZNF274_21170338_ChIP-Seq_K562_Hela1.29231698
44EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.28186051
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.26310969
46TAF15_26573619_Chip-Seq_HEK293_Human1.26043973
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.25649048
48* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25465009
49* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.24041639
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.24005794
51WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23794043
52AR_19668381_ChIP-Seq_PC3_Human1.23226288
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23055673
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22950217
55* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.21966777
56TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.21565873
57PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.18607862
58RING1B_27294783_Chip-Seq_NPCs_Mouse1.18282770
59WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.17295547
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16692443
61GATA1_26923725_Chip-Seq_HPCs_Mouse1.15129729
62TP53_20018659_ChIP-ChIP_R1E_Mouse1.15054507
63PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.15008493
64RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14035118
65STAT3_23295773_ChIP-Seq_U87_Human1.11386273
66TRIM28_21343339_ChIP-Seq_HEK293_Human1.10050415
67AR_25329375_ChIP-Seq_VCAP_Human1.08430460
68SRY_22984422_ChIP-ChIP_TESTIS_Rat1.07995931
69CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.07779314
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.05457768
71KDM2B_26808549_Chip-Seq_DND41_Human1.04638189
72P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04241702
73RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.04066085
74GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02872394
75SMC4_20622854_ChIP-Seq_HELA_Human1.01738295
76SMAD_19615063_ChIP-ChIP_OVARY_Human1.01730697
77CBX2_27304074_Chip-Seq_ESCs_Mouse1.01039351
78P300_19829295_ChIP-Seq_ESCs_Human1.00342726
79TET1_21490601_ChIP-Seq_MESCs_Mouse0.99750232
80ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99729287
81BMI1_23680149_ChIP-Seq_NPCS_Mouse0.99516469
82TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.99107106
83CTCF_27219007_Chip-Seq_Bcells_Human0.99105523
84YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98555228
85TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97229565
86ESR2_21235772_ChIP-Seq_MCF-7_Human0.97001318
87TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96538493
88EP300_21415370_ChIP-Seq_HL-1_Mouse0.96455021
89ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95522634
90SMAD3_21741376_ChIP-Seq_ESCs_Human0.94782515
91CREB1_26743006_Chip-Seq_LNCaP_Human0.94183826
92OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93968017
93MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93722268
94ZFP57_27257070_Chip-Seq_ESCs_Mouse0.93124435
95SMAD4_21741376_ChIP-Seq_HESCs_Human0.92955242
96TCF4_23295773_ChIP-Seq_U87_Human0.92727490
97CDX2_19796622_ChIP-Seq_MESCs_Mouse0.92642334
98ARNT_22903824_ChIP-Seq_MCF-7_Human0.91992050
99OCT4_19829295_ChIP-Seq_ESCs_Human0.91724910
100DPY_21335234_ChIP-Seq_ESCs_Mouse0.91557609
101RUNX1_26923725_Chip-Seq_HPCs_Mouse0.91545572
102RNF2_27304074_Chip-Seq_NSC_Mouse0.91374778
103KDM2B_26808549_Chip-Seq_JURKAT_Human0.91284621
104UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.90835882
105PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90592858
106AHR_22903824_ChIP-Seq_MCF-7_Human0.90356634
107SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.90340363
108* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.89356422
109SMAD3_21741376_ChIP-Seq_HESCs_Human0.86452226
110SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.85813678
111OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.85086043
112VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83417251
113KLF4_19829295_ChIP-Seq_ESCs_Human0.83166235
114CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83099210
115SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82893810
116TP53_23651856_ChIP-Seq_MEFs_Mouse0.82878233
117KDM2B_26808549_Chip-Seq_SUP-B15_Human0.82619313
118PIAS1_25552417_ChIP-Seq_VCAP_Human0.82183345
119IGF1R_20145208_ChIP-Seq_DFB_Human0.82076432
120SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.81888910
121PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.81795573
122NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80265311
123RUNX2_22187159_ChIP-Seq_PCA_Human0.79620069
124PRDM14_20953172_ChIP-Seq_ESCs_Human0.79484691
125DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.79250661
126CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.79149228
127TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79013246
128AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.78526750
129SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.76482094
130MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.76425670
131P68_20966046_ChIP-Seq_HELA_Human0.76244157
132SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76219872
133TET1_21451524_ChIP-Seq_MESCs_Mouse0.75378426
134SMAD4_21741376_ChIP-Seq_ESCs_Human0.73282762
135RARG_19884340_ChIP-ChIP_MEFs_Mouse0.71776218
136ISL1_27105846_Chip-Seq_CPCs_Mouse0.70041821

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.60556657
2MP0003880_abnormal_central_pattern4.52769526
3MP0003635_abnormal_synaptic_transmissio4.16105701
4MP0004270_analgesia3.93605695
5MP0009745_abnormal_behavioral_response3.32877647
6MP0002063_abnormal_learning/memory/cond3.32544084
7MP0001968_abnormal_touch/_nociception3.27210174
8MP0009046_muscle_twitch3.18516914
9MP0002064_seizures3.11007610
10MP0005423_abnormal_somatic_nervous3.07990391
11MP0002734_abnormal_mechanical_nocicepti2.86723242
12MP0002822_catalepsy2.86613882
13MP0002572_abnormal_emotion/affect_behav2.74588867
14MP0002272_abnormal_nervous_system2.65756286
15MP0002735_abnormal_chemical_nociception2.64577066
16MP0001486_abnormal_startle_reflex2.59371409
17MP0002736_abnormal_nociception_after2.43309994
18MP0002733_abnormal_thermal_nociception2.31780670
19MP0004858_abnormal_nervous_system2.16118168
20MP0001970_abnormal_pain_threshold2.15941504
21MP0001501_abnormal_sleep_pattern2.11693827
22MP0001440_abnormal_grooming_behavior2.03357333
23MP0002067_abnormal_sensory_capabilities2.02199434
24MP0008569_lethality_at_weaning2.01019442
25MP0004811_abnormal_neuron_physiology1.94484879
26MP0003329_amyloid_beta_deposits1.93966409
27MP0002184_abnormal_innervation1.91777450
28MP0009780_abnormal_chondrocyte_physiolo1.89852651
29MP0002909_abnormal_adrenal_gland1.89092535
30MP0006276_abnormal_autonomic_nervous1.84083961
31MP0003879_abnormal_hair_cell1.83095583
32MP0000778_abnormal_nervous_system1.74720390
33MP0002557_abnormal_social/conspecific_i1.74400130
34MP0003123_paternal_imprinting1.70555079
35MP0000955_abnormal_spinal_cord1.68428966
36MP0005386_behavior/neurological_phenoty1.68363359
37MP0004924_abnormal_behavior1.68363359
38MP0001984_abnormal_olfaction1.57117037
39MP0005646_abnormal_pituitary_gland1.53227128
40MP0004885_abnormal_endolymph1.52224117
41MP0000013_abnormal_adipose_tissue1.51522509
42MP0002882_abnormal_neuron_morphology1.49471251
43MP0002066_abnormal_motor_capabilities/c1.45494383
44MP0003633_abnormal_nervous_system1.41373233
45MP0005645_abnormal_hypothalamus_physiol1.41137875
46MP0003787_abnormal_imprinting1.30325907
47MP0001502_abnormal_circadian_rhythm1.21355486
48MP0004142_abnormal_muscle_tone1.20541227
49MP0000569_abnormal_digit_pigmentation1.20487378
50MP0003631_nervous_system_phenotype1.17646681
51MP0002229_neurodegeneration1.12382713
52MP0003122_maternal_imprinting1.11329312
53MP0002152_abnormal_brain_morphology1.10161938
54MP0004742_abnormal_vestibular_system1.04595654
55MP0001905_abnormal_dopamine_level1.03808077
56MP0001529_abnormal_vocalization1.03323141
57MP0004510_myositis1.01652119
58MP0000751_myopathy1.00936978
59MP0004130_abnormal_muscle_cell0.99106945
60MP0008872_abnormal_physiological_respon0.96955356
61MP0003283_abnormal_digestive_organ0.96254586
62MP0004084_abnormal_cardiac_muscle0.94188728
63MP0005551_abnormal_eye_electrophysiolog0.92347614
64MP0003634_abnormal_glial_cell0.92264280
65MP0002069_abnormal_eating/drinking_beha0.91737086
66MP0005409_darkened_coat_color0.90808319
67MP0008874_decreased_physiological_sensi0.90389632
68MP0000920_abnormal_myelination0.89503486
69MP0008961_abnormal_basal_metabolism0.89475023
70MP0003690_abnormal_glial_cell0.88010268
71MP0005394_taste/olfaction_phenotype0.87897668
72MP0005499_abnormal_olfactory_system0.87897668
73MP0004145_abnormal_muscle_electrophysio0.87876301
74MP0000604_amyloidosis0.86411370
75MP0003075_altered_response_to0.86344111
76MP0002837_dystrophic_cardiac_calcinosis0.83762089
77MP0003632_abnormal_nervous_system0.83412087
78MP0001485_abnormal_pinna_reflex0.83075107
79MP0003121_genomic_imprinting0.83070168
80MP0001177_atelectasis0.82942368
81MP0004085_abnormal_heartbeat0.79275390
82MP0001963_abnormal_hearing_physiology0.78909807
83MP0002752_abnormal_somatic_nervous0.78897770
84MP0000747_muscle_weakness0.77854024
85MP0005535_abnormal_body_temperature0.75737014
86MP0010386_abnormal_urinary_bladder0.70870706
87MP0001188_hyperpigmentation0.70234244
88MP0001299_abnormal_eye_distance/0.70142627
89MP0000579_abnormal_nail_morphology0.68749839
90MP0005167_abnormal_blood-brain_barrier0.68184193
91MP0003137_abnormal_impulse_conducting0.65662305
92MP0001346_abnormal_lacrimal_gland0.65223981
93MP0004036_abnormal_muscle_relaxation0.65101156
94MP0002090_abnormal_vision0.63820863
95MP0000631_abnormal_neuroendocrine_gland0.62065682
96MP0003172_abnormal_lysosome_physiology0.61262738
97MP0001348_abnormal_lacrimal_gland0.59652030
98MP0004087_abnormal_muscle_fiber0.59439634
99MP0004484_altered_response_of0.59336200
100MP0005623_abnormal_meninges_morphology0.58896611
101MP0003705_abnormal_hypodermis_morpholog0.58721432
102MP0002972_abnormal_cardiac_muscle0.58122096
103MP0004215_abnormal_myocardial_fiber0.57430878
104MP0002638_abnormal_pupillary_reflex0.56829155
105MP0002249_abnormal_larynx_morphology0.56027252
106MP0010769_abnormal_survival0.55572136
107MP0003861_abnormal_nervous_system0.54962246
108MP0006138_congestive_heart_failure0.54208572
109MP0004233_abnormal_muscle_weight0.54016615
110MP0001943_abnormal_respiration0.53345944
111MP0010770_preweaning_lethality0.53259257
112MP0002082_postnatal_lethality0.53259257
113MP0001664_abnormal_digestion0.52418684
114MP0010768_mortality/aging0.51769120
115MP0001986_abnormal_taste_sensitivity0.51653987
116MP0002089_abnormal_postnatal_growth/wei0.51564635
117MP0005171_absent_coat_pigmentation0.51190481
118MP0003956_abnormal_body_size0.50422590
119MP0004043_abnormal_pH_regulation0.48505450

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.52836472
2Focal motor seizures (HP:0011153)7.08244224
3Focal seizures (HP:0007359)5.62483929
4Visual hallucinations (HP:0002367)5.48443172
5Action tremor (HP:0002345)4.66486798
6Progressive cerebellar ataxia (HP:0002073)4.41800157
7Febrile seizures (HP:0002373)4.23374696
8Epileptic encephalopathy (HP:0200134)4.20818331
9Atonic seizures (HP:0010819)4.09434385
10Supranuclear gaze palsy (HP:0000605)4.02725287
11Absence seizures (HP:0002121)3.92228380
12Ankle clonus (HP:0011448)3.89346675
13Generalized tonic-clonic seizures (HP:0002069)3.63831439
14Poor eye contact (HP:0000817)3.60817386
15Dialeptic seizures (HP:0011146)3.49905613
16Depression (HP:0000716)3.39108525
17Mutism (HP:0002300)3.35849702
18Abnormal social behavior (HP:0012433)3.28962961
19Impaired social interactions (HP:0000735)3.28962961
20Impaired vibration sensation in the lower limbs (HP:0002166)3.27275443
21Sudden death (HP:0001699)3.22785586
22Urinary bladder sphincter dysfunction (HP:0002839)3.18614290
23Gaze-evoked nystagmus (HP:0000640)3.18607682
24Broad-based gait (HP:0002136)3.17728521
25Abnormal eating behavior (HP:0100738)3.11564254
26Postural instability (HP:0002172)3.09851573
27Anxiety (HP:0000739)3.07974014
28Abnormality of the lower motor neuron (HP:0002366)3.07412457
29Dysdiadochokinesis (HP:0002075)3.07263258
30Papilledema (HP:0001085)3.03642451
31Torticollis (HP:0000473)3.02664395
32Truncal ataxia (HP:0002078)3.01141511
33Dysmetria (HP:0001310)2.96063127
34Urinary urgency (HP:0000012)2.94881843
35Genetic anticipation (HP:0003743)2.80628226
36Insidious onset (HP:0003587)2.80617909
37Termporal pattern (HP:0011008)2.80617909
38Tetraplegia (HP:0002445)2.79699268
39Spastic gait (HP:0002064)2.78790857
40Ventricular fibrillation (HP:0001663)2.77247851
41Megalencephaly (HP:0001355)2.71573261
42Scanning speech (HP:0002168)2.71165618
43Focal dystonia (HP:0004373)2.69274588
44Progressive inability to walk (HP:0002505)2.68441505
45Heart block (HP:0012722)2.67038639
46Pheochromocytoma (HP:0002666)2.65065558
47Cerebral hypomyelination (HP:0006808)2.58535385
48Intention tremor (HP:0002080)2.57717457
49Impaired smooth pursuit (HP:0007772)2.56595282
50Limb dystonia (HP:0002451)2.54206095
51Amblyopia (HP:0000646)2.53191565
52Hemiplegia (HP:0002301)2.52814562
53Abnormal atrioventricular conduction (HP:0005150)2.52435374
54Stereotypic behavior (HP:0000733)2.50416064
55Annular pancreas (HP:0001734)2.48804466
56Bradykinesia (HP:0002067)2.48004647
57Craniofacial dystonia (HP:0012179)2.46958997
58Syncope (HP:0001279)2.46524703
59Abnormality of the corticospinal tract (HP:0002492)2.42446427
60Primary atrial arrhythmia (HP:0001692)2.41083113
61Peripheral hypomyelination (HP:0007182)2.40722337
62Insomnia (HP:0100785)2.39896737
63Failure to thrive in infancy (HP:0001531)2.38961142
64Atrioventricular block (HP:0001678)2.38610910
65Hemiparesis (HP:0001269)2.38295508
66Drooling (HP:0002307)2.36055389
67Excessive salivation (HP:0003781)2.36055389
68Sleep apnea (HP:0010535)2.35938501
69Atrial fibrillation (HP:0005110)2.35378863
70Supraventricular tachycardia (HP:0004755)2.34760109
71Abnormality of binocular vision (HP:0011514)2.33922996
72Diplopia (HP:0000651)2.33922996
73Dysmetric saccades (HP:0000641)2.33319869
74Turricephaly (HP:0000262)2.32173596
75Lower limb muscle weakness (HP:0007340)2.30159093
76Supraventricular arrhythmia (HP:0005115)2.29222177
77Abnormality of ocular smooth pursuit (HP:0000617)2.27271908
78Fetal akinesia sequence (HP:0001989)2.25710822
79Epileptiform EEG discharges (HP:0011182)2.24980115
80Hyporeflexia of lower limbs (HP:0002600)2.24797859
81Pointed chin (HP:0000307)2.24158080
82Neuroendocrine neoplasm (HP:0100634)2.23995400
83Neurofibrillary tangles (HP:0002185)2.23451848
84Hyperventilation (HP:0002883)2.23368654
85EEG with generalized epileptiform discharges (HP:0011198)2.23075243
86Polyphagia (HP:0002591)2.20776884
87Agitation (HP:0000713)2.19555588
88Hypsarrhythmia (HP:0002521)2.18853686
89Impaired vibratory sensation (HP:0002495)2.18159687
90Diminished motivation (HP:0000745)2.18142418
91Delusions (HP:0000746)2.16912938
92Amyotrophic lateral sclerosis (HP:0007354)2.14848030
93Cerebral inclusion bodies (HP:0100314)2.14827661
94Clonus (HP:0002169)2.11848266
95Abnormality of the foot musculature (HP:0001436)2.11164921
96Foot dorsiflexor weakness (HP:0009027)2.09580972
97Status epilepticus (HP:0002133)2.08045140
98Bundle branch block (HP:0011710)2.06939290
99Lower limb asymmetry (HP:0100559)2.04657095
100Prolonged QT interval (HP:0001657)2.02466313
101Spastic tetraparesis (HP:0001285)2.02191421
102Inability to walk (HP:0002540)1.98809434
103Resting tremor (HP:0002322)1.97138396
104Hyperacusis (HP:0010780)1.97097664
105Distal upper limb amyotrophy (HP:0007149)1.96359528
106Upper limb amyotrophy (HP:0009129)1.96359528
107Ulnar claw (HP:0001178)1.94877238
108Hand muscle atrophy (HP:0009130)1.91741599
109Neuronal loss in central nervous system (HP:0002529)1.91112947
110Neoplasm of the peripheral nervous system (HP:0100007)1.90981807
111Aplasia involving bones of the upper limbs (HP:0009823)1.90008540
112Aplasia of the phalanges of the hand (HP:0009802)1.90008540
113Aplasia involving bones of the extremities (HP:0009825)1.90008540
114Incomplete penetrance (HP:0003829)1.88940040
115Gait ataxia (HP:0002066)1.88591789
116Absent speech (HP:0001344)1.86428173
117Obstructive sleep apnea (HP:0002870)1.85282325
118Generalized myoclonic seizures (HP:0002123)1.85165730
119Abnormality of saccadic eye movements (HP:0000570)1.85090510
120Apathy (HP:0000741)1.84911673
121Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.84291005
122Postural tremor (HP:0002174)1.84211300
123Rapidly progressive (HP:0003678)1.84126685
124Rigidity (HP:0002063)1.83049836
125Abnormal EKG (HP:0003115)1.82795872
126Lower limb amyotrophy (HP:0007210)1.81300415
127Hammertoe (HP:0001765)1.79462942
128Akinesia (HP:0002304)1.77006736
129Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.76354915

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.32727181
2MAP3K94.09584680
3EPHA43.55060755
4MARK13.52025974
5MINK13.02375374
6MAP3K42.83795749
7PAK62.50493391
8DAPK22.43921874
9MAP2K72.26767421
10KSR22.24595460
11PRKD32.19545474
12NTRK22.13860678
13CAMKK12.12101368
14NTRK12.04142836
15MAP2K41.87385385
16MAP3K121.78500541
17CDK51.62737261
18TAOK11.60630837
19KSR11.51801966
20GRK51.49913017
21STK381.48909593
22PHKG21.41732035
23PHKG11.41732035
24RIPK41.38882564
25LATS21.38442980
26LMTK21.35774976
27MAP3K21.34324554
28CDK191.32409736
29SIK21.31928050
30DAPK11.30286649
31PINK11.29607698
32MAPK131.29241369
33CAMKK21.29128827
34TYRO31.25259885
35UHMK11.23388039
36PRKCG1.18163912
37PLK21.13943367
38TNIK1.12496914
39CASK1.12167327
40FES1.08569524
41ARAF1.05704321
42PRPF4B1.04969670
43RET1.02045026
44ALK0.99693749
45SGK4940.99214637
46SGK2230.99214637
47CDK180.98816174
48STK110.98515574
49CDK150.96972276
50PRKCH0.96858481
51CDK140.96442678
52CAMK10.88887067
53CDK11A0.84604419
54MAPK120.83850919
55DMPK0.83534446
56TRIB30.82590411
57CAMK2A0.81044676
58NEK10.79762351
59MARK20.79309225
60RIPK10.77661647
61PAK30.76779288
62PNCK0.75885930
63SGK20.73596531
64SGK30.73545426
65WNK10.72894822
66MAP3K130.71306904
67PKN10.70735373
68PDK10.69816119
69LIMK10.68136626
70MAP3K10.65377936
71CSNK1G20.65120419
72PDPK10.64940782
73TNK20.64299501
74ICK0.63724322
75SCYL20.63077208
76RAF10.62846435
77OXSR10.62729189
78CAMK2B0.62271538
79SGK10.61501404
80DYRK1A0.60116031
81CDC42BPA0.57041721
82BRSK10.56499521
83PRKCZ0.55525736
84MAP3K110.55011734
85TTN0.54431844
86TESK10.53256197
87MOS0.51791225
88RPS6KA30.50027067
89ROCK10.49633275
90SIK30.49263598
91FYN0.47901360
92MAPK100.45978277
93CAMK40.45777344
94RPS6KA20.45648103
95CAMK1G0.44197824
96FER0.43992367
97CAMK2G0.43781812
98PDGFRA0.43533362
99BRAF0.40860795
100MAP2K10.40064573
101PRKCE0.39736448
102IRAK20.38875445
103EEF2K0.38140669
104PTK2B0.36366545
105CAMK1D0.35017449
106CAMK2D0.34381002
107NEK60.33844770
108PRKD10.33624190
109DAPK30.33006282
110PAK20.32149082
111MAP3K70.31508410
112MYLK0.31413926
113ROCK20.31298876
114MAPK80.30460388
115ERBB30.30431033
116CSNK1E0.29867323
117DYRK20.29802172
118PRKCB0.29528198
119BMPR20.26644975
120GSK3B0.26042750

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.47291796
2Nicotine addiction_Homo sapiens_hsa050333.32087706
3Olfactory transduction_Homo sapiens_hsa047402.89614168
4GABAergic synapse_Homo sapiens_hsa047272.63560697
5Circadian entrainment_Homo sapiens_hsa047132.57740742
6Long-term potentiation_Homo sapiens_hsa047202.48435169
7Glutamatergic synapse_Homo sapiens_hsa047242.47165963
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.45768397
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41987137
10Morphine addiction_Homo sapiens_hsa050322.36881009
11Amphetamine addiction_Homo sapiens_hsa050312.20457993
12Dopaminergic synapse_Homo sapiens_hsa047282.14121738
13Salivary secretion_Homo sapiens_hsa049702.08386342
14Insulin secretion_Homo sapiens_hsa049111.97903072
15Cholinergic synapse_Homo sapiens_hsa047251.95015685
16Gastric acid secretion_Homo sapiens_hsa049711.86989544
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.79902686
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.77635358
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76280976
20Taste transduction_Homo sapiens_hsa047421.63336524
21Long-term depression_Homo sapiens_hsa047301.63010834
22Cocaine addiction_Homo sapiens_hsa050301.62051889
23Oxytocin signaling pathway_Homo sapiens_hsa049211.58735810
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.56503552
25Renin secretion_Homo sapiens_hsa049241.47923098
26Serotonergic synapse_Homo sapiens_hsa047261.44751018
27GnRH signaling pathway_Homo sapiens_hsa049121.44534225
28Calcium signaling pathway_Homo sapiens_hsa040201.42844249
29Nitrogen metabolism_Homo sapiens_hsa009101.41572979
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.40784360
31Gap junction_Homo sapiens_hsa045401.38436357
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.37532393
33Vitamin B6 metabolism_Homo sapiens_hsa007501.31268219
34Type II diabetes mellitus_Homo sapiens_hsa049301.29482703
35cAMP signaling pathway_Homo sapiens_hsa040241.25010370
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.22671666
37Glioma_Homo sapiens_hsa052141.21803420
38Estrogen signaling pathway_Homo sapiens_hsa049151.20020412
39Collecting duct acid secretion_Homo sapiens_hsa049661.16416423
40Axon guidance_Homo sapiens_hsa043601.14763249
41ErbB signaling pathway_Homo sapiens_hsa040121.09360657
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.05135250
43Melanogenesis_Homo sapiens_hsa049160.98761277
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97345843
45Phototransduction_Homo sapiens_hsa047440.96588591
46Oocyte meiosis_Homo sapiens_hsa041140.92902615
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.92248575
48Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.92049600
49Dorso-ventral axis formation_Homo sapiens_hsa043200.88742786
50Cardiac muscle contraction_Homo sapiens_hsa042600.85218550
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.83930206
52Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82293976
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.81702041
54Neurotrophin signaling pathway_Homo sapiens_hsa047220.80864772
55Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78661216
56Pancreatic secretion_Homo sapiens_hsa049720.78493905
57Thyroid hormone synthesis_Homo sapiens_hsa049180.77979268
58Vibrio cholerae infection_Homo sapiens_hsa051100.77649402
59Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.76534269
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75113520
61Choline metabolism in cancer_Homo sapiens_hsa052310.74575056
62VEGF signaling pathway_Homo sapiens_hsa043700.73527881
632-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.71809314
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.71787660
65MAPK signaling pathway_Homo sapiens_hsa040100.69588410
66mTOR signaling pathway_Homo sapiens_hsa041500.66974330
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64579961
68Dilated cardiomyopathy_Homo sapiens_hsa054140.64406552
69Endometrial cancer_Homo sapiens_hsa052130.63104537
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62802137
71Endocytosis_Homo sapiens_hsa041440.62610789
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.62488714
73SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61537700
74Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60489277
75Rap1 signaling pathway_Homo sapiens_hsa040150.59054533
76Bile secretion_Homo sapiens_hsa049760.58608232
77Ras signaling pathway_Homo sapiens_hsa040140.58356034
78Inositol phosphate metabolism_Homo sapiens_hsa005620.58220006
79Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55732540
80Non-small cell lung cancer_Homo sapiens_hsa052230.55109920
81Glucagon signaling pathway_Homo sapiens_hsa049220.52948715
82Alcoholism_Homo sapiens_hsa050340.52665399
83Renal cell carcinoma_Homo sapiens_hsa052110.51154046
84Insulin signaling pathway_Homo sapiens_hsa049100.50927143
85Arginine and proline metabolism_Homo sapiens_hsa003300.50371498
86Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49363113
87Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.48860094
88AMPK signaling pathway_Homo sapiens_hsa041520.47770444
89Prion diseases_Homo sapiens_hsa050200.47477146
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47024997
91Type I diabetes mellitus_Homo sapiens_hsa049400.46724741
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45868020
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.44617368
94Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44460777
95Tight junction_Homo sapiens_hsa045300.44012291
96Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43198719
97Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.40870370
98Arginine biosynthesis_Homo sapiens_hsa002200.39151428
99Hippo signaling pathway_Homo sapiens_hsa043900.38890442
100Chemokine signaling pathway_Homo sapiens_hsa040620.37537166
101Central carbon metabolism in cancer_Homo sapiens_hsa052300.36367919
102Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.35632616
103Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.35589921
104Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.34827050
105Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34756561
106Prolactin signaling pathway_Homo sapiens_hsa049170.33533033
107Circadian rhythm_Homo sapiens_hsa047100.32944144
108Colorectal cancer_Homo sapiens_hsa052100.32838684
109Wnt signaling pathway_Homo sapiens_hsa043100.32425933
110Ovarian steroidogenesis_Homo sapiens_hsa049130.31569690
111Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28547284
112Focal adhesion_Homo sapiens_hsa045100.28065022
113HIF-1 signaling pathway_Homo sapiens_hsa040660.26880757

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