KALRN

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: Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.33302621
2synaptic vesicle maturation (GO:0016188)6.20078822
3synaptic vesicle docking involved in exocytosis (GO:0016081)6.16754469
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.12195516
5locomotory exploration behavior (GO:0035641)5.99204523
6glutamate secretion (GO:0014047)5.89184554
7synaptic vesicle exocytosis (GO:0016079)5.58247069
8vocalization behavior (GO:0071625)5.46980825
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.34789634
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.33442005
11regulation of glutamate receptor signaling pathway (GO:1900449)5.18007491
12regulation of synaptic vesicle exocytosis (GO:2000300)5.16293071
13ionotropic glutamate receptor signaling pathway (GO:0035235)5.05425337
14regulation of neuronal synaptic plasticity (GO:0048168)4.89902803
15regulation of long-term neuronal synaptic plasticity (GO:0048169)4.75609416
16protein localization to synapse (GO:0035418)4.73105284
17regulation of synaptic vesicle transport (GO:1902803)4.69390098
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.60723590
19synaptic transmission, glutamatergic (GO:0035249)4.60475839
20exploration behavior (GO:0035640)4.51987360
21regulation of synapse structural plasticity (GO:0051823)4.49615646
22glutamate receptor signaling pathway (GO:0007215)4.46975567
23neuronal action potential propagation (GO:0019227)4.38956566
24chemosensory behavior (GO:0007635)4.31850728
25neurotransmitter secretion (GO:0007269)4.29827748
26neurotransmitter-gated ion channel clustering (GO:0072578)4.28624872
27long-term memory (GO:0007616)4.17349066
28neuron-neuron synaptic transmission (GO:0007270)4.14843849
29regulation of excitatory postsynaptic membrane potential (GO:0060079)4.14629515
30dendritic spine morphogenesis (GO:0060997)4.11114969
31presynaptic membrane organization (GO:0097090)4.10121830
32neuron cell-cell adhesion (GO:0007158)4.09908705
33regulation of synaptic plasticity (GO:0048167)4.05992478
34cell migration in hindbrain (GO:0021535)4.05615028
35positive regulation of membrane potential (GO:0045838)4.03452015
36cerebellar granule cell differentiation (GO:0021707)4.00784401
37regulation of dendritic spine morphogenesis (GO:0061001)3.99730140
38positive regulation of synapse maturation (GO:0090129)3.95972223
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.92840863
40regulation of postsynaptic membrane potential (GO:0060078)3.90672480
41layer formation in cerebral cortex (GO:0021819)3.87263507
42pyrimidine nucleobase catabolic process (GO:0006208)3.84366850
43G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.82959507
44central nervous system projection neuron axonogenesis (GO:0021952)3.79337844
45long-term synaptic potentiation (GO:0060291)3.76688150
46auditory behavior (GO:0031223)3.69609192
47cellular potassium ion homeostasis (GO:0030007)3.64356212
48proline transport (GO:0015824)3.63850345
49gamma-aminobutyric acid transport (GO:0015812)3.61579266
50neuronal ion channel clustering (GO:0045161)3.57148743
51neuron recognition (GO:0008038)3.50266927
52regulation of neurotransmitter secretion (GO:0046928)3.49564791
53positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.48632621
54positive regulation of neurotransmitter secretion (GO:0001956)3.48389140
55neuromuscular process controlling balance (GO:0050885)3.41486560
56synaptic vesicle endocytosis (GO:0048488)3.41224359
57regulation of dendritic spine development (GO:0060998)3.40920687
58regulation of synaptic transmission, glutamatergic (GO:0051966)3.39709995
59cerebellar Purkinje cell differentiation (GO:0021702)3.39443336
60axonal fasciculation (GO:0007413)3.39443079
61activation of protein kinase A activity (GO:0034199)3.37195542
62neurotransmitter transport (GO:0006836)3.37191289
63cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.36216809
64suckling behavior (GO:0001967)3.35760146
65regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.33392941
66sodium ion export (GO:0071436)3.32244686
67dendritic spine organization (GO:0097061)3.30711630
68negative regulation of synaptic transmission, GABAergic (GO:0032229)3.30366508
69innervation (GO:0060384)3.28755568
70behavioral fear response (GO:0001662)3.28371722
71behavioral defense response (GO:0002209)3.28371722
72cell communication by electrical coupling (GO:0010644)3.24630464
73nucleobase catabolic process (GO:0046113)3.24353723
74dendrite morphogenesis (GO:0048813)3.23445379
75membrane depolarization (GO:0051899)3.23344624
76regulation of vesicle fusion (GO:0031338)3.23214208
77cell differentiation in hindbrain (GO:0021533)3.22195203
78transmission of nerve impulse (GO:0019226)3.21442581
79G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.20006789
80gamma-aminobutyric acid signaling pathway (GO:0007214)3.19503593
81positive regulation of neurotransmitter transport (GO:0051590)3.19371583
82regulation of neurotransmitter levels (GO:0001505)3.19153718
83L-amino acid import (GO:0043092)3.18076225
84regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.17989305
85regulation of neurotransmitter transport (GO:0051588)3.15961469
86long term synaptic depression (GO:0060292)3.15834548
87behavioral response to nicotine (GO:0035095)3.14762354
88positive regulation of dendritic spine development (GO:0060999)3.14280442
89adult walking behavior (GO:0007628)3.12218010
90neuromuscular synaptic transmission (GO:0007274)3.11341757
91regulation of synaptic transmission (GO:0050804)3.11153326
92positive regulation of dendritic spine morphogenesis (GO:0061003)3.09289675
93positive regulation of synaptic transmission (GO:0050806)3.08925774
94central nervous system neuron axonogenesis (GO:0021955)3.08756558
95membrane depolarization during action potential (GO:0086010)3.08630550
96learning (GO:0007612)3.07229269
97response to auditory stimulus (GO:0010996)3.04715541
98regulation of ARF protein signal transduction (GO:0032012)3.04080407
99regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.03155912
100vesicle transport along microtubule (GO:0047496)3.03040901
101regulation of synapse maturation (GO:0090128)3.01573677
102axon ensheathment in central nervous system (GO:0032291)3.01217800
103central nervous system myelination (GO:0022010)3.01217800
104fear response (GO:0042596)3.00897599
105regulation of voltage-gated calcium channel activity (GO:1901385)3.00377875
106response to histamine (GO:0034776)3.00016362
107membrane hyperpolarization (GO:0060081)2.98737764
108negative regulation of cytosolic calcium ion concentration (GO:0051481)2.97701942
109synaptic transmission (GO:0007268)2.97194738
110presynaptic membrane assembly (GO:0097105)2.95069619
111regulation of clathrin-mediated endocytosis (GO:2000369)2.94534228
112neuromuscular process (GO:0050905)2.94223984
113positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.91597440
114postsynaptic membrane organization (GO:0001941)2.91330142
115startle response (GO:0001964)2.91037327
116positive regulation of fibroblast migration (GO:0010763)2.90558138
117positive regulation of synaptic transmission, GABAergic (GO:0032230)2.90172424
118establishment of mitochondrion localization (GO:0051654)2.89223260
119negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.89221909
120negative regulation of dendrite development (GO:2000171)2.89082425
121mechanosensory behavior (GO:0007638)2.89067671
122phosphorelay signal transduction system (GO:0000160)2.87802213
123negative regulation of dendrite morphogenesis (GO:0050774)2.85703252
124positive regulation of synapse assembly (GO:0051965)2.82457533
125positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.77974147
126synapse assembly (GO:0007416)2.77534741
127regulation of dendrite morphogenesis (GO:0048814)2.72130099
128serotonin metabolic process (GO:0042428)2.70205435
129cell communication involved in cardiac conduction (GO:0086065)2.65242959
130neuronal action potential (GO:0019228)2.63843271

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* EZH2_22144423_ChIP-Seq_EOC_Human6.22013322
2GBX2_23144817_ChIP-Seq_PC3_Human3.66484493
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07213713
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.97801177
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.95779594
6* RARB_27405468_Chip-Seq_BRAIN_Mouse2.71612142
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69975327
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69975327
9DROSHA_22980978_ChIP-Seq_HELA_Human2.69945627
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.58715557
11REST_21632747_ChIP-Seq_MESCs_Mouse2.57826198
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55672911
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46220278
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.45038617
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.40653275
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.34786028
17* EZH2_27304074_Chip-Seq_ESCs_Mouse2.31694447
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.25388727
19* RNF2_27304074_Chip-Seq_ESCs_Mouse2.13187087
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.12398699
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.09018671
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07988176
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.06403425
24IKZF1_21737484_ChIP-ChIP_HCT116_Human1.91018623
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.84081313
26SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.83830508
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.77898988
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.77731954
29AR_21572438_ChIP-Seq_LNCaP_Human1.70749415
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.70205909
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.69122083
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68560890
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.62251114
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.61173675
35RNF2_27304074_Chip-Seq_NSC_Mouse1.51797433
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.51635000
37HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.47515638
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.47022919
39TAF15_26573619_Chip-Seq_HEK293_Human1.41663927
40P300_19829295_ChIP-Seq_ESCs_Human1.40026513
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39750780
42* SMAD3_21741376_ChIP-Seq_EPCs_Human1.37571157
43SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36984200
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.36733022
45* SOX2_21211035_ChIP-Seq_LN229_Gbm1.35346942
46POU3F2_20337985_ChIP-ChIP_501MEL_Human1.34672573
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33083179
48TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33000755
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.30457312
50* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.29130414
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28192091
52* AR_19668381_ChIP-Seq_PC3_Human1.27992049
53MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.27921715
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.27759115
55STAT3_23295773_ChIP-Seq_U87_Human1.27588760
56* AR_25329375_ChIP-Seq_VCAP_Human1.25213036
57* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24911797
58ZNF274_21170338_ChIP-Seq_K562_Hela1.24505972
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.24433386
60PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.23650250
61VDR_22108803_ChIP-Seq_LS180_Human1.21988387
62TP53_16413492_ChIP-PET_HCT116_Human1.20527820
63* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.18763889
64ARNT_22903824_ChIP-Seq_MCF-7_Human1.15703109
65* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.15366022
66PIAS1_25552417_ChIP-Seq_VCAP_Human1.15285459
67TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14454670
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14317346
69P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13292274
70WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.12689066
71RXR_22108803_ChIP-Seq_LS180_Human1.12128833
72DNAJC2_21179169_ChIP-ChIP_NT2_Human1.11729695
73LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11507643
74AHR_22903824_ChIP-Seq_MCF-7_Human1.10736250
75* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10581007
76* TCF4_23295773_ChIP-Seq_U87_Human1.10291292
77RING1B_27294783_Chip-Seq_NPCs_Mouse1.09872704
78* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09635694
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09496682
80GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09112825
81YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08774044
82NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08317952
83SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.07632087
84* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07432245
85CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06256248
86* CBX2_27304074_Chip-Seq_ESCs_Mouse1.06136653
87KDM2B_26808549_Chip-Seq_K562_Human1.03878225
88EP300_21415370_ChIP-Seq_HL-1_Mouse1.03733896
89VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.03446899
90SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03135276
91SMAD3_21741376_ChIP-Seq_HESCs_Human1.03123354
92NANOG_18555785_Chip-Seq_ESCs_Mouse1.00759510
93TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.99963108
94CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.99624526
95EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.99621008
96STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99596440
97CDX2_19796622_ChIP-Seq_MESCs_Mouse0.99338669
98ZFP281_18757296_ChIP-ChIP_E14_Mouse0.99042118
99* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.98950953
100RBPJ_22232070_ChIP-Seq_NCS_Mouse0.98930417
101KDM2B_26808549_Chip-Seq_REH_Human0.98636327
102PRDM14_20953172_ChIP-Seq_ESCs_Human0.98047404
103SMAD4_21741376_ChIP-Seq_HESCs_Human0.96484063
104KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.96260142
105BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.96221282
106RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.95689271
107POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95373928
108TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95373928
109MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95339766
110IGF1R_20145208_ChIP-Seq_DFB_Human0.94706880
111GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94442785
112FUS_26573619_Chip-Seq_HEK293_Human0.94038357
113* TP53_18474530_ChIP-ChIP_U2OS_Human0.93834252
114RUNX2_22187159_ChIP-Seq_PCA_Human0.93702237
115BCAT_22108803_ChIP-Seq_LS180_Human0.93627604
116SMAD3_21741376_ChIP-Seq_ESCs_Human0.91852139
117* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.91729693
118TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89588796
119UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89022166

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.93681508
2MP0003880_abnormal_central_pattern5.01135664
3* MP0003635_abnormal_synaptic_transmissio4.40541930
4MP0004270_analgesia4.12651349
5* MP0002063_abnormal_learning/memory/cond3.59428773
6MP0009745_abnormal_behavioral_response3.54894675
7MP0002064_seizures3.30704507
8MP0001968_abnormal_touch/_nociception2.98294675
9MP0009046_muscle_twitch2.94293737
10* MP0002572_abnormal_emotion/affect_behav2.88871903
11MP0002822_catalepsy2.87610578
12MP0001486_abnormal_startle_reflex2.61871382
13MP0002734_abnormal_mechanical_nocicepti2.48990017
14* MP0002272_abnormal_nervous_system2.46672549
15MP0005423_abnormal_somatic_nervous2.33202741
16MP0001501_abnormal_sleep_pattern2.29056037
17MP0002736_abnormal_nociception_after2.22874430
18MP0002735_abnormal_chemical_nociception2.04364729
19MP0001984_abnormal_olfaction2.03242972
20MP0001440_abnormal_grooming_behavior2.00435418
21MP0009780_abnormal_chondrocyte_physiolo1.98804031
22MP0005646_abnormal_pituitary_gland1.90032431
23MP0002067_abnormal_sensory_capabilities1.83689730
24MP0008569_lethality_at_weaning1.83533735
25MP0004858_abnormal_nervous_system1.83395497
26* MP0004811_abnormal_neuron_physiology1.80199385
27MP0000778_abnormal_nervous_system1.74722329
28MP0001970_abnormal_pain_threshold1.70634720
29MP0003879_abnormal_hair_cell1.68778314
30MP0002733_abnormal_thermal_nociception1.68424997
31* MP0002557_abnormal_social/conspecific_i1.63013210
32MP0003329_amyloid_beta_deposits1.62346983
33MP0005386_behavior/neurological_phenoty1.60818526
34MP0004924_abnormal_behavior1.60818526
35MP0002909_abnormal_adrenal_gland1.60389420
36MP0003787_abnormal_imprinting1.57406783
37MP0002184_abnormal_innervation1.56950380
38MP0003633_abnormal_nervous_system1.44028158
39MP0004885_abnormal_endolymph1.42507693
40MP0002638_abnormal_pupillary_reflex1.40969624
41MP0000955_abnormal_spinal_cord1.39489503
42* MP0002882_abnormal_neuron_morphology1.34454033
43* MP0002066_abnormal_motor_capabilities/c1.34451065
44MP0000569_abnormal_digit_pigmentation1.32885879
45MP0003890_abnormal_embryonic-extraembry1.23574895
46MP0001502_abnormal_circadian_rhythm1.20504623
47MP0003631_nervous_system_phenotype1.17781786
48MP0003075_altered_response_to1.15058196
49* MP0002152_abnormal_brain_morphology1.10211599
50MP0003121_genomic_imprinting1.09504713
51MP0008872_abnormal_physiological_respon1.07813285
52MP0000751_myopathy1.05725900
53MP0006276_abnormal_autonomic_nervous1.02114898
54MP0001177_atelectasis1.00801866
55MP0001905_abnormal_dopamine_level1.00590993
56MP0002069_abnormal_eating/drinking_beha0.99221095
57MP0005645_abnormal_hypothalamus_physiol0.98311738
58* MP0008874_decreased_physiological_sensi0.94917267
59MP0004085_abnormal_heartbeat0.94173028
60MP0003123_paternal_imprinting0.93673666
61MP0010234_abnormal_vibrissa_follicle0.90586591
62MP0001529_abnormal_vocalization0.89101518
63MP0008961_abnormal_basal_metabolism0.88706572
64MP0005187_abnormal_penis_morphology0.88035097
65MP0004215_abnormal_myocardial_fiber0.85731579
66MP0001188_hyperpigmentation0.85294481
67MP0004510_myositis0.82371812
68MP0003690_abnormal_glial_cell0.81739677
69MP0004142_abnormal_muscle_tone0.81352411
70MP0004145_abnormal_muscle_electrophysio0.81110942
71MP0000026_abnormal_inner_ear0.80696250
72MP0004484_altered_response_of0.80561339
73MP0003122_maternal_imprinting0.79566661
74MP0008877_abnormal_DNA_methylation0.78107840
75MP0002229_neurodegeneration0.76931538
76MP0005499_abnormal_olfactory_system0.76351456
77MP0005394_taste/olfaction_phenotype0.76351456
78MP0002837_dystrophic_cardiac_calcinosis0.75340840
79MP0005535_abnormal_body_temperature0.74763579
80MP0001963_abnormal_hearing_physiology0.74276258
81MP0010386_abnormal_urinary_bladder0.72483544
82MP0003119_abnormal_digestive_system0.71686700
83MP0001485_abnormal_pinna_reflex0.71412669
84MP0003632_abnormal_nervous_system0.70871895
85MP0004133_heterotaxia0.70332193
86MP0005253_abnormal_eye_physiology0.67848342
87MP0001986_abnormal_taste_sensitivity0.66885967
88MP0001299_abnormal_eye_distance/0.66246887
89MP0000604_amyloidosis0.66121159
90MP0005551_abnormal_eye_electrophysiolog0.65414188
91MP0004147_increased_porphyrin_level0.65125107
92MP0004233_abnormal_muscle_weight0.64411979
93MP0000566_synostosis0.64115067
94MP0002751_abnormal_autonomic_nervous0.63678156
95MP0003646_muscle_fatigue0.63188087
96MP0005409_darkened_coat_color0.61873773
97MP0005167_abnormal_blood-brain_barrier0.61787204
98MP0004043_abnormal_pH_regulation0.61718255
99MP0002653_abnormal_ependyma_morphology0.61651491
100MP0006292_abnormal_olfactory_placode0.61400806
101MP0002234_abnormal_pharynx_morphology0.61288081
102MP0003137_abnormal_impulse_conducting0.61099978
103MP0001664_abnormal_digestion0.60937802
104MP0002090_abnormal_vision0.60375352
105MP0003634_abnormal_glial_cell0.60058515
106MP0000631_abnormal_neuroendocrine_gland0.59994415
107MP0005195_abnormal_posterior_eye0.59156435
108MP0004742_abnormal_vestibular_system0.59085231
109MP0002876_abnormal_thyroid_physiology0.58899201
110MP0002752_abnormal_somatic_nervous0.58144919
111MP0003283_abnormal_digestive_organ0.56541666
112MP0010769_abnormal_survival0.56093653
113MP0000920_abnormal_myelination0.55005185
114* MP0003861_abnormal_nervous_system0.54380542
115MP0010770_preweaning_lethality0.53871574
116MP0002082_postnatal_lethality0.53871574
117MP0004130_abnormal_muscle_cell0.53405627
118MP0010768_mortality/aging0.52406115
119MP0000013_abnormal_adipose_tissue0.51279212
120MP0005623_abnormal_meninges_morphology0.49923500
121MP0003956_abnormal_body_size0.49136337

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.94024291
2Myokymia (HP:0002411)7.62996821
3Focal seizures (HP:0007359)6.46168379
4Epileptic encephalopathy (HP:0200134)5.47680848
5Visual hallucinations (HP:0002367)4.82974993
6Progressive cerebellar ataxia (HP:0002073)4.69929145
7Febrile seizures (HP:0002373)4.66917116
8Atonic seizures (HP:0010819)4.38469137
9Hyperventilation (HP:0002883)4.24886749
10Generalized tonic-clonic seizures (HP:0002069)4.19949620
11Absence seizures (HP:0002121)4.17422252
12Action tremor (HP:0002345)4.00244498
13Dialeptic seizures (HP:0011146)3.94049266
14Broad-based gait (HP:0002136)3.93154628
15Poor eye contact (HP:0000817)3.83040373
16Gaze-evoked nystagmus (HP:0000640)3.79895345
17Impaired vibration sensation in the lower limbs (HP:0002166)3.76561372
18Impaired social interactions (HP:0000735)3.45500575
19Abnormal social behavior (HP:0012433)3.45500575
20Dysdiadochokinesis (HP:0002075)3.40569083
21Genetic anticipation (HP:0003743)3.38689811
22Dysmetria (HP:0001310)3.30026492
23Amblyopia (HP:0000646)3.23272999
24Urinary bladder sphincter dysfunction (HP:0002839)3.22215861
25Postural instability (HP:0002172)3.19496637
26Depression (HP:0000716)3.12184489
27Impaired smooth pursuit (HP:0007772)3.09531894
28Abnormality of the lower motor neuron (HP:0002366)2.95860304
29Limb dystonia (HP:0002451)2.94692597
30Dysmetric saccades (HP:0000641)2.94435217
31Excessive salivation (HP:0003781)2.94323032
32Drooling (HP:0002307)2.94323032
33Epileptiform EEG discharges (HP:0011182)2.93540636
34Truncal ataxia (HP:0002078)2.90777085
35Ankle clonus (HP:0011448)2.87788460
36Anxiety (HP:0000739)2.84576124
37Supranuclear gaze palsy (HP:0000605)2.84353621
38Stereotypic behavior (HP:0000733)2.80778644
39Torticollis (HP:0000473)2.80416417
40Scanning speech (HP:0002168)2.80126151
41Focal dystonia (HP:0004373)2.79764904
42Absent speech (HP:0001344)2.78511456
43EEG with generalized epileptiform discharges (HP:0011198)2.71026907
44Papilledema (HP:0001085)2.70557468
45Impaired vibratory sensation (HP:0002495)2.70125778
46Status epilepticus (HP:0002133)2.66062993
47Abnormal eating behavior (HP:0100738)2.64515272
48Abnormality of ocular smooth pursuit (HP:0000617)2.60658084
49Hypsarrhythmia (HP:0002521)2.59569231
50Urinary urgency (HP:0000012)2.52787631
51Hemiplegia (HP:0002301)2.45557366
52Bradykinesia (HP:0002067)2.45101384
53Hemiparesis (HP:0001269)2.43931162
54Annular pancreas (HP:0001734)2.43157524
55Generalized myoclonic seizures (HP:0002123)2.42663277
56Ventricular fibrillation (HP:0001663)2.34115429
57Megalencephaly (HP:0001355)2.33650825
58Intention tremor (HP:0002080)2.32274281
59Craniofacial dystonia (HP:0012179)2.31958110
60Spastic gait (HP:0002064)2.28564487
61Blue irides (HP:0000635)2.26240743
62Pointed chin (HP:0000307)2.20109727
63Mutism (HP:0002300)2.17547743
64Incomplete penetrance (HP:0003829)2.15682094
65Insidious onset (HP:0003587)2.14921468
66Termporal pattern (HP:0011008)2.14921468
67Bundle branch block (HP:0011710)2.13767127
68Abnormality of the corticospinal tract (HP:0002492)2.13382886
69Fetal akinesia sequence (HP:0001989)2.10335790
70Protruding tongue (HP:0010808)2.09586734
71Polyphagia (HP:0002591)2.08611504
72Inability to walk (HP:0002540)2.05953332
73Hepatoblastoma (HP:0002884)2.04608689
74Abnormality of binocular vision (HP:0011514)2.03633039
75Diplopia (HP:0000651)2.03633039
76Gait ataxia (HP:0002066)2.02490138
77Cutaneous finger syndactyly (HP:0010554)2.02332315
78Abnormality of salivation (HP:0100755)1.98635590
79Obstructive sleep apnea (HP:0002870)1.98276020
80Gait imbalance (HP:0002141)1.94259066
81Cerebral inclusion bodies (HP:0100314)1.92498177
82Abnormal EKG (HP:0003115)1.92017716
83Lower limb amyotrophy (HP:0007210)1.90584905
84Generalized hypopigmentation of hair (HP:0011358)1.90016434
85Abnormality of the periventricular white matter (HP:0002518)1.88961136
86Progressive inability to walk (HP:0002505)1.87558543
87Lower limb asymmetry (HP:0100559)1.87323127
88Ankyloglossia (HP:0010296)1.86815510
89Sudden death (HP:0001699)1.86033901
90Lower limb muscle weakness (HP:0007340)1.83603721
91Syncope (HP:0001279)1.81299016
92Chronic hepatic failure (HP:0100626)1.80598117
93Inappropriate behavior (HP:0000719)1.80091519
94Neurofibrillary tangles (HP:0002185)1.79653449
95Spastic tetraplegia (HP:0002510)1.76020825
96Genital tract atresia (HP:0001827)1.75199657
97Abnormality of saccadic eye movements (HP:0000570)1.74464181
98Fair hair (HP:0002286)1.73591011
99Thickened helices (HP:0000391)1.73481679
100Pachygyria (HP:0001302)1.73164830
101Deeply set eye (HP:0000490)1.72937728
102Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.72396768
103Morphological abnormality of the pyramidal tract (HP:0002062)1.71528802
104Hypoplasia of the corpus callosum (HP:0002079)1.70711664
105Intellectual disability, profound (HP:0002187)1.70252073
106Clumsiness (HP:0002312)1.69284441
107Rigidity (HP:0002063)1.68767905
108Pheochromocytoma (HP:0002666)1.68562057
109Exotropia (HP:0000577)1.66435298
110Autism (HP:0000717)1.66112902
111Oligodactyly (hands) (HP:0001180)1.66104486
112Vaginal atresia (HP:0000148)1.65325372
113Cutaneous syndactyly (HP:0012725)1.65237546
114Sleep apnea (HP:0010535)1.64825217
115Prolonged QT interval (HP:0001657)1.64399072
116Rapidly progressive (HP:0003678)1.63103733
117Intellectual disability, severe (HP:0010864)1.62421101
118Insomnia (HP:0100785)1.62413889
119Clonus (HP:0002169)1.60134909
120Agitation (HP:0000713)1.59433882
121Anterior segment dysgenesis (HP:0007700)1.57915723
122Primary atrial arrhythmia (HP:0001692)1.57201556
123Vitreoretinal degeneration (HP:0000655)1.55322783
124Papillary thyroid carcinoma (HP:0002895)1.55295813
125Atrial fibrillation (HP:0005110)1.52979204

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.46044701
2NTRK34.88901412
3MAP3K93.71069671
4MAP3K43.22569765
5DAPK22.77434835
6MAP2K72.76585536
7RIPK42.46088021
8MINK12.42531786
9KSR22.29767781
10PAK62.28711063
11PRKD32.27538458
12MAP2K42.10643562
13KSR12.02322650
14CAMKK11.96916386
15MARK11.94391394
16FRK1.87551393
17DAPK11.81724183
18NTRK21.74941435
19TNIK1.68248583
20CDK191.60556798
21MAP3K121.60395166
22PRPF4B1.48223862
23NTRK11.45349110
24* CDK51.44062105
25MAP3K131.42480139
26CASK1.42232110
27STK381.39916453
28ARAF1.35076861
29FES1.33014976
30PLK21.26883352
31MAP3K21.25377750
32PRKCG1.16376800
33MAPK131.16279439
34CAMK11.14017981
35BMPR21.13512910
36TAOK11.11093386
37RAF11.08142990
38SIK21.07634297
39PNCK1.05489776
40PTK2B1.05080923
41CAMKK21.04255529
42OBSCN1.03272256
43TYRO31.02100761
44INSRR1.00315782
45SGK20.98537897
46WNK30.98105910
47PKN10.96705836
48CAMK2A0.94958841
49UHMK10.93869447
50SGK4940.92584576
51SGK2230.92584576
52CDK180.92103149
53DYRK20.89977672
54GRK50.88516681
55CDK150.87497423
56SGK30.85978484
57STK110.85649018
58RET0.82836540
59CAMK2B0.82386515
60PDK10.81914832
61LATS20.81303170
62CDK140.80849545
63DMPK0.80825294
64PAK30.77957727
65STK390.77204233
66EPHA30.77180420
67CDK11A0.76067564
68EPHB20.75113138
69SIK30.75064002
70MAP3K70.74143310
71PRKCH0.71590263
72OXSR10.71547165
73SGK10.71071808
74PIK3CA0.70255783
75PDPK10.69497344
76PINK10.68832702
77FER0.67091402
78AKT30.63509445
79MAP3K10.62491453
80CCNB10.61841453
81FGFR20.61535679
82MARK20.60989527
83MAP3K60.60753423
84DYRK1A0.57714786
85CAMK1D0.57507908
86WNK10.57123753
87ERBB20.57107277
88CAMK40.56666107
89PRKG10.56272608
90MAP2K10.53668976
91NEK60.52296850
92RIPK10.49355399
93ALK0.49161591
94RPS6KA30.47547245
95CAMK1G0.47117315
96LMTK20.46679108
97CSNK1G20.46553273
98PRKACA0.45588569
99ROCK10.45334362
100PHKG10.43581436
101PHKG20.43581436
102CDC42BPA0.43523506
103WNK40.43279909
104PRKCZ0.43076549
105TIE10.41240815
106NME10.40826884
107CSNK1D0.40765881
108CSNK1A1L0.40723190
109BRAF0.40598154
110CAMK2D0.39884345
111DAPK30.39749687
112PRKAA10.38850230
113ADRBK20.38842056
114PRKCE0.38338927
115CAMK2G0.36925396
116MAPK100.36509427
117CSNK1E0.36424627
118GSK3B0.35725530
119FGR0.34555410
120GRK10.34384333
121MAPK80.33811926
122FYN0.32058466
123BCR0.29853071
124MAP3K50.29845314
125MAPK120.29667224
126PRKCB0.28242038
127DDR20.27136203

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.41364137
2Synaptic vesicle cycle_Homo sapiens_hsa047212.97143320
3Long-term potentiation_Homo sapiens_hsa047202.94686118
4Circadian entrainment_Homo sapiens_hsa047132.87287131
5Olfactory transduction_Homo sapiens_hsa047402.81396745
6Glutamatergic synapse_Homo sapiens_hsa047242.67910264
7Amphetamine addiction_Homo sapiens_hsa050312.64612032
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.59186842
9GABAergic synapse_Homo sapiens_hsa047272.49622181
10Morphine addiction_Homo sapiens_hsa050322.35655409
11Nitrogen metabolism_Homo sapiens_hsa009102.33349263
12Salivary secretion_Homo sapiens_hsa049702.24581479
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.13577494
14Dopaminergic synapse_Homo sapiens_hsa047282.12034443
15Insulin secretion_Homo sapiens_hsa049112.10710024
16Aldosterone synthesis and secretion_Homo sapiens_hsa049252.01425211
17Gastric acid secretion_Homo sapiens_hsa049711.98520641
18Cholinergic synapse_Homo sapiens_hsa047251.94179224
19Oxytocin signaling pathway_Homo sapiens_hsa049211.77962373
20Long-term depression_Homo sapiens_hsa047301.70732117
21Renin secretion_Homo sapiens_hsa049241.64218451
22Calcium signaling pathway_Homo sapiens_hsa040201.63826447
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62955432
24GnRH signaling pathway_Homo sapiens_hsa049121.56872585
25Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.56213077
26Serotonergic synapse_Homo sapiens_hsa047261.48286309
27Taste transduction_Homo sapiens_hsa047421.45709174
28Cocaine addiction_Homo sapiens_hsa050301.40970553
29Gap junction_Homo sapiens_hsa045401.34237251
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32128306
31cAMP signaling pathway_Homo sapiens_hsa040241.31868713
32Glioma_Homo sapiens_hsa052141.31665840
33Type II diabetes mellitus_Homo sapiens_hsa049301.28236485
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.22401048
35ErbB signaling pathway_Homo sapiens_hsa040121.17125170
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16797609
37Estrogen signaling pathway_Homo sapiens_hsa049151.11822555
38Melanogenesis_Homo sapiens_hsa049161.10443695
39Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.10275920
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.09686699
41Axon guidance_Homo sapiens_hsa043601.03955463
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.01192887
43Vascular smooth muscle contraction_Homo sapiens_hsa042701.00733713
44Collecting duct acid secretion_Homo sapiens_hsa049660.95935686
45Oocyte meiosis_Homo sapiens_hsa041140.88192597
46Pancreatic secretion_Homo sapiens_hsa049720.86602061
47Dorso-ventral axis formation_Homo sapiens_hsa043200.84922353
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.84549895
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.82739728
50Choline metabolism in cancer_Homo sapiens_hsa052310.82600227
51Thyroid hormone synthesis_Homo sapiens_hsa049180.80093611
52Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.78413288
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.77837817
54VEGF signaling pathway_Homo sapiens_hsa043700.76904359
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.75852613
56Dilated cardiomyopathy_Homo sapiens_hsa054140.73058230
57Arginine biosynthesis_Homo sapiens_hsa002200.72290456
58Glucagon signaling pathway_Homo sapiens_hsa049220.71346368
59Circadian rhythm_Homo sapiens_hsa047100.68698609
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68322078
61MAPK signaling pathway_Homo sapiens_hsa040100.67507483
62Neurotrophin signaling pathway_Homo sapiens_hsa047220.67343340
63African trypanosomiasis_Homo sapiens_hsa051430.64859858
64Cardiac muscle contraction_Homo sapiens_hsa042600.64508966
65Bile secretion_Homo sapiens_hsa049760.63724290
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.63497364
67mTOR signaling pathway_Homo sapiens_hsa041500.63485926
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.62645644
69Histidine metabolism_Homo sapiens_hsa003400.61419566
70Carbohydrate digestion and absorption_Homo sapiens_hsa049730.60586568
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60035050
72Ras signaling pathway_Homo sapiens_hsa040140.59339563
73Rap1 signaling pathway_Homo sapiens_hsa040150.59216368
74Butanoate metabolism_Homo sapiens_hsa006500.57099408
75Tight junction_Homo sapiens_hsa045300.56797863
76Vibrio cholerae infection_Homo sapiens_hsa051100.56181869
77Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.54915505
78Non-small cell lung cancer_Homo sapiens_hsa052230.54784851
79Linoleic acid metabolism_Homo sapiens_hsa005910.52422518
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.52286293
81Hippo signaling pathway_Homo sapiens_hsa043900.51628884
82alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.51489289
83ABC transporters_Homo sapiens_hsa020100.50812696
84Wnt signaling pathway_Homo sapiens_hsa043100.50506034
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.49670430
86Fatty acid biosynthesis_Homo sapiens_hsa000610.47542538
87Inositol phosphate metabolism_Homo sapiens_hsa005620.46573257
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45562206
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.45442337
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43860360
91Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.43673340
92Endometrial cancer_Homo sapiens_hsa052130.42511509
93Prion diseases_Homo sapiens_hsa050200.42460053
94Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.40409944
95Insulin signaling pathway_Homo sapiens_hsa049100.40070650
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38935238
97Ether lipid metabolism_Homo sapiens_hsa005650.38927272
98Hedgehog signaling pathway_Homo sapiens_hsa043400.38656808
99Endocytosis_Homo sapiens_hsa041440.38622379
100Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37793000
101Phototransduction_Homo sapiens_hsa047440.37372585
102beta-Alanine metabolism_Homo sapiens_hsa004100.36040221
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33718684
104AMPK signaling pathway_Homo sapiens_hsa041520.31819368
105Renal cell carcinoma_Homo sapiens_hsa052110.31169024
106Alcoholism_Homo sapiens_hsa050340.31148049
107Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.30061201
108Glycerolipid metabolism_Homo sapiens_hsa005610.29846749
109Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.28791133
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28739197
111Ovarian steroidogenesis_Homo sapiens_hsa049130.28662940
112Chemokine signaling pathway_Homo sapiens_hsa040620.27362126
113Protein digestion and absorption_Homo sapiens_hsa049740.27244563
114Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25183088
115Type I diabetes mellitus_Homo sapiens_hsa049400.24163206
116Platelet activation_Homo sapiens_hsa046110.23905280
117Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23751380
118Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.22612258
119Colorectal cancer_Homo sapiens_hsa052100.22417790

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