KAZN

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)6.35386249
2central nervous system myelination (GO:0022010)6.35386249
3synaptic vesicle maturation (GO:0016188)4.75143231
4regulation of short-term neuronal synaptic plasticity (GO:0048172)4.42176438
5locomotory exploration behavior (GO:0035641)4.41079597
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.41071747
7sodium ion export (GO:0071436)4.31361910
8neuron cell-cell adhesion (GO:0007158)4.31191732
9vocalization behavior (GO:0071625)4.24890822
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.18618875
11transmission of nerve impulse (GO:0019226)3.98446499
12neuronal action potential propagation (GO:0019227)3.95453066
13synaptic vesicle exocytosis (GO:0016079)3.88899644
14positive regulation of synapse maturation (GO:0090129)3.87594553
15regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.84275463
16neuronal ion channel clustering (GO:0045161)3.83109215
17myelination (GO:0042552)3.79787723
18ensheathment of neurons (GO:0007272)3.78932197
19axon ensheathment (GO:0008366)3.78932197
20dendritic spine morphogenesis (GO:0060997)3.73596330
21regulation of synaptic vesicle exocytosis (GO:2000300)3.69578461
22regulation of neuronal synaptic plasticity (GO:0048168)3.64654872
23ionotropic glutamate receptor signaling pathway (GO:0035235)3.63629397
24glycine transport (GO:0015816)3.62655248
25L-amino acid import (GO:0043092)3.54360097
26auditory behavior (GO:0031223)3.54232357
27regulation of synapse structural plasticity (GO:0051823)3.54224094
28layer formation in cerebral cortex (GO:0021819)3.52951076
29long-chain fatty acid biosynthetic process (GO:0042759)3.52236836
30adult walking behavior (GO:0007628)3.50166822
31regulation of long-term neuronal synaptic plasticity (GO:0048169)3.49762036
32regulation of glutamate receptor signaling pathway (GO:1900449)3.47558157
33protein localization to synapse (GO:0035418)3.44680359
34neuron recognition (GO:0008038)3.43204794
35glutamate secretion (GO:0014047)3.42835452
36gamma-aminobutyric acid transport (GO:0015812)3.41768792
37negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.40944554
38cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.40487458
39neuron-neuron synaptic transmission (GO:0007270)3.40229866
40cellular sodium ion homeostasis (GO:0006883)3.37415668
41prepulse inhibition (GO:0060134)3.35429267
42negative regulation of neurotransmitter transport (GO:0051589)3.32871088
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.32367918
44synaptic transmission, glutamatergic (GO:0035249)3.30007885
45presynaptic membrane organization (GO:0097090)3.29501011
46potassium ion homeostasis (GO:0055075)3.27164564
47neurotransmitter secretion (GO:0007269)3.25578776
48negative regulation of synaptic transmission, GABAergic (GO:0032229)3.22642476
49regulation of synapse maturation (GO:0090128)3.20292975
50exploration behavior (GO:0035640)3.19832857
51neuromuscular process controlling balance (GO:0050885)3.19189727
52regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.18489931
53glutamate receptor signaling pathway (GO:0007215)3.18148690
54potassium ion import (GO:0010107)3.17313629
55regulation of dendritic spine morphogenesis (GO:0061001)3.15820508
56regulation of synaptic vesicle transport (GO:1902803)3.15790786
57presynaptic membrane assembly (GO:0097105)3.15753527
58axonal fasciculation (GO:0007413)3.13511337
59synaptic transmission, dopaminergic (GO:0001963)3.13315428
60positive regulation of dendritic spine development (GO:0060999)3.11521308
61negative regulation of neurotransmitter secretion (GO:0046929)3.11463966
62positive regulation of membrane potential (GO:0045838)3.08620964
63dendrite morphogenesis (GO:0048813)3.08044117
64long-term memory (GO:0007616)3.08036065
65response to auditory stimulus (GO:0010996)3.08012943
66regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.05896686
67cell communication by electrical coupling (GO:0010644)3.04644966
68regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.04186485
69membrane hyperpolarization (GO:0060081)3.04077545
70amino acid import (GO:0043090)3.03123071
71positive regulation of synaptic transmission, GABAergic (GO:0032230)3.01316414
72substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.00643597
73substrate-independent telencephalic tangential migration (GO:0021826)3.00643597
74regulation of neurotransmitter secretion (GO:0046928)2.98231589
75regulation of excitatory postsynaptic membrane potential (GO:0060079)2.96510850
76neurotransmitter transport (GO:0006836)2.95832886
77positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.94111421
78synaptic vesicle docking involved in exocytosis (GO:0016081)2.93479589
79mechanosensory behavior (GO:0007638)2.92866145
80apical protein localization (GO:0045176)2.92743805
81mating behavior (GO:0007617)2.91623456
82peptidyl-tyrosine autophosphorylation (GO:0038083)2.90925026
83establishment of mitochondrion localization (GO:0051654)2.89151565
84negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.88882461
85regulation of synaptic transmission, GABAergic (GO:0032228)2.87063360
86cochlea development (GO:0090102)2.86152927
87neurotransmitter-gated ion channel clustering (GO:0072578)2.85606855
88positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.84484313
89cerebellar granule cell differentiation (GO:0021707)2.83006376
90cellular potassium ion homeostasis (GO:0030007)2.82291535
91regulation of synaptic transmission, glutamatergic (GO:0051966)2.82060751
92neuromuscular process controlling posture (GO:0050884)2.81726279
93membrane depolarization during action potential (GO:0086010)2.81404312
94regulation of synaptic plasticity (GO:0048167)2.79515011
95regulation of postsynaptic membrane potential (GO:0060078)2.79068148
96positive regulation of synapse assembly (GO:0051965)2.79004567
97regulation of voltage-gated calcium channel activity (GO:1901385)2.78520917
98striatum development (GO:0021756)2.78506182
99positive regulation of dendritic spine morphogenesis (GO:0061003)2.78237415
100regulation of neurotransmitter transport (GO:0051588)2.77738779
101cerebral cortex radially oriented cell migration (GO:0021799)2.77721423
102behavioral response to cocaine (GO:0048148)2.77269876
103regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.75934388
104cell migration in hindbrain (GO:0021535)2.75277719
105long-term synaptic potentiation (GO:0060291)2.75123992
106neuromuscular process (GO:0050905)2.72161446
107regulation of vesicle fusion (GO:0031338)2.70540154
108cyclic nucleotide catabolic process (GO:0009214)2.70493818
109synapse assembly (GO:0007416)2.70121338
110gamma-aminobutyric acid signaling pathway (GO:0007214)2.69565066
111dendritic spine organization (GO:0097061)2.69307504
112learning (GO:0007612)2.68382366
113myelin maintenance (GO:0043217)2.67255169
114cerebellar Purkinje cell differentiation (GO:0021702)2.66842844
115asymmetric protein localization (GO:0008105)2.66181629
116postsynaptic membrane organization (GO:0001941)2.65741166
117regulation of neurotransmitter levels (GO:0001505)2.65073076
118neurotransmitter uptake (GO:0001504)2.64655164
119cell communication involved in cardiac conduction (GO:0086065)2.64315574
120central nervous system projection neuron axonogenesis (GO:0021952)2.64023273
121regulation of dendritic spine development (GO:0060998)2.63770612
122synaptic vesicle endocytosis (GO:0048488)2.63536671
123membrane depolarization (GO:0051899)2.62408567
124positive regulation of dendrite development (GO:1900006)2.59844780
125G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.59807755
126startle response (GO:0001964)2.55598713
127myelination in peripheral nervous system (GO:0022011)2.54343243
128peripheral nervous system axon ensheathment (GO:0032292)2.54343243
129regulation of respiratory system process (GO:0044065)2.49274762
130neuromuscular synaptic transmission (GO:0007274)2.47841015
131membrane assembly (GO:0071709)2.46675001

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.89047150
2GBX2_23144817_ChIP-Seq_PC3_Human3.10793517
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.90806353
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.83472688
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.82519041
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.66606725
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.66606725
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.49920609
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.45806191
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.40499639
11SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.40226997
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.37320161
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.35274271
14DROSHA_22980978_ChIP-Seq_HELA_Human2.33664961
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.32775391
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.28893932
17SUZ12_27294783_Chip-Seq_ESCs_Mouse2.22417993
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.21669417
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.20983795
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.12938482
21REST_21632747_ChIP-Seq_MESCs_Mouse2.09258398
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.05115044
23AR_21572438_ChIP-Seq_LNCaP_Human2.02766417
24EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73809140
25ERG_21242973_ChIP-ChIP_JURKAT_Human1.72804419
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.70943916
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.69576467
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.69565054
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.60577436
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.48263438
31SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.48245368
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.47965011
33TAF15_26573619_Chip-Seq_HEK293_Human1.47887819
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.43704497
35RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.42929027
36TRIM28_21343339_ChIP-Seq_HEK293_Human1.41901019
37CTBP2_25329375_ChIP-Seq_LNCAP_Human1.40241545
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.39520946
39BMI1_23680149_ChIP-Seq_NPCS_Mouse1.37706709
40SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.36475294
41CBX2_27304074_Chip-Seq_ESCs_Mouse1.36143323
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.35844186
43RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.35794321
44CTBP1_25329375_ChIP-Seq_LNCAP_Human1.34292258
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.34200821
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.33434494
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.32893268
48RING1B_27294783_Chip-Seq_NPCs_Mouse1.32442235
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.30222736
50SMAD4_21799915_ChIP-Seq_A2780_Human1.30097081
51OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29995545
52* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.28283832
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27111903
54ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21165212
55AHR_22903824_ChIP-Seq_MCF-7_Human1.20981117
56RNF2_27304074_Chip-Seq_NSC_Mouse1.18869700
57STAT3_23295773_ChIP-Seq_U87_Human1.17453188
58VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.16994384
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16041230
60P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15616821
61CDX2_19796622_ChIP-Seq_MESCs_Mouse1.14315959
62ARNT_22903824_ChIP-Seq_MCF-7_Human1.14243111
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.13563079
64CTNNB1_20460455_ChIP-Seq_HCT116_Human1.13441745
65TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.13227470
66STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.11569859
67TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10205789
68TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09550684
69TP53_20018659_ChIP-ChIP_R1E_Mouse1.08721506
70WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08269220
71SOX2_21211035_ChIP-Seq_LN229_Gbm1.07466154
72AR_19668381_ChIP-Seq_PC3_Human1.05435210
73P300_19829295_ChIP-Seq_ESCs_Human1.05054599
74ZFP281_27345836_Chip-Seq_ESCs_Mouse1.03856009
75DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03393320
76TOP2B_26459242_ChIP-Seq_MCF-7_Human1.03081288
77CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00493643
78TCF4_23295773_ChIP-Seq_U87_Human1.00440851
79KDM2B_26808549_Chip-Seq_K562_Human1.00405611
80SMAD3_21741376_ChIP-Seq_HESCs_Human0.99986284
81TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99387638
82POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99387638
83EP300_21415370_ChIP-Seq_HL-1_Mouse0.99329595
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98511819
85ESR2_21235772_ChIP-Seq_MCF-7_Human0.96681363
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96224092
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.95122538
88YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94962474
89AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.93708836
90ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92754416
91ISL1_27105846_Chip-Seq_CPCs_Mouse0.92173077
92NR3C1_21868756_ChIP-Seq_MCF10A_Human0.91835613
93EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91326066
94GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91274478
95ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90681141
96PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90234979
97LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89543130
98RUNX2_22187159_ChIP-Seq_PCA_Human0.89101249
99SMAD3_21741376_ChIP-Seq_ESCs_Human0.88959139
100CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.88676892
101GATA1_26923725_Chip-Seq_HPCs_Mouse0.88353718
102TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86947378
103TP53_16413492_ChIP-PET_HCT116_Human0.85684440
104CTCF_27219007_Chip-Seq_Bcells_Human0.85516420
105AR_25329375_ChIP-Seq_VCAP_Human0.84766616
106OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.83274273
107ER_23166858_ChIP-Seq_MCF-7_Human0.82800228
108CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.82562362
109SMAD4_21741376_ChIP-Seq_EPCs_Human0.82410474
110EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.82126032
111UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.81929488
112NR3C1_23031785_ChIP-Seq_PC12_Mouse0.81220766
113IGF1R_20145208_ChIP-Seq_DFB_Human0.80827942

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.73646812
2MP0003880_abnormal_central_pattern4.38997018
3MP0004270_analgesia3.40884527
4MP0002822_catalepsy3.35655733
5MP0003635_abnormal_synaptic_transmissio3.35566020
6MP0009745_abnormal_behavioral_response2.96767933
7MP0001486_abnormal_startle_reflex2.95445098
8MP0002064_seizures2.86040307
9MP0009046_muscle_twitch2.77737038
10MP0002063_abnormal_learning/memory/cond2.69290378
11MP0002272_abnormal_nervous_system2.65386252
12MP0005423_abnormal_somatic_nervous2.64004196
13MP0000920_abnormal_myelination2.58365746
14MP0004885_abnormal_endolymph2.51227973
15MP0002572_abnormal_emotion/affect_behav2.37978698
16MP0002734_abnormal_mechanical_nocicepti2.27345834
17MP0000778_abnormal_nervous_system2.14222019
18MP0001968_abnormal_touch/_nociception1.95233610
19MP0001529_abnormal_vocalization1.92808945
20MP0004742_abnormal_vestibular_system1.87952738
21MP0001440_abnormal_grooming_behavior1.87537295
22MP0001501_abnormal_sleep_pattern1.79014346
23MP0003329_amyloid_beta_deposits1.78165281
24MP0001970_abnormal_pain_threshold1.75348517
25MP0008569_lethality_at_weaning1.72485175
26MP0004142_abnormal_muscle_tone1.70178517
27MP0000955_abnormal_spinal_cord1.67771075
28MP0002733_abnormal_thermal_nociception1.66618458
29MP0002067_abnormal_sensory_capabilities1.65330687
30MP0002557_abnormal_social/conspecific_i1.59302004
31MP0001485_abnormal_pinna_reflex1.59045632
32MP0005409_darkened_coat_color1.58089728
33MP0003690_abnormal_glial_cell1.56422564
34MP0005171_absent_coat_pigmentation1.55859573
35MP0001905_abnormal_dopamine_level1.55149611
36MP0002184_abnormal_innervation1.52293248
37MP0003634_abnormal_glial_cell1.50812419
38MP0002882_abnormal_neuron_morphology1.50685503
39MP0003136_yellow_coat_color1.46834971
40MP0003878_abnormal_ear_physiology1.45613899
41MP0005377_hearing/vestibular/ear_phenot1.45613899
42MP0001984_abnormal_olfaction1.44624021
43MP0005386_behavior/neurological_phenoty1.43022061
44MP0004924_abnormal_behavior1.43022061
45MP0005646_abnormal_pituitary_gland1.41742878
46MP0005623_abnormal_meninges_morphology1.41503456
47MP0002066_abnormal_motor_capabilities/c1.41006210
48MP0002735_abnormal_chemical_nociception1.35167293
49MP0004811_abnormal_neuron_physiology1.34135219
50MP0003283_abnormal_digestive_organ1.30988340
51MP0002736_abnormal_nociception_after1.30493853
52MP0002249_abnormal_larynx_morphology1.29527283
53MP0001177_atelectasis1.29432689
54MP0002229_neurodegeneration1.24162125
55MP0003633_abnormal_nervous_system1.21681781
56MP0004858_abnormal_nervous_system1.21660992
57MP0001188_hyperpigmentation1.20452359
58MP0005645_abnormal_hypothalamus_physiol1.19943945
59MP0003122_maternal_imprinting1.19725508
60MP0003631_nervous_system_phenotype1.18804241
61MP0003632_abnormal_nervous_system1.18789680
62MP0009780_abnormal_chondrocyte_physiolo1.17274722
63MP0003787_abnormal_imprinting1.15505641
64MP0004043_abnormal_pH_regulation1.14979836
65MP0002152_abnormal_brain_morphology1.14223686
66MP0001963_abnormal_hearing_physiology1.12030317
67MP0001502_abnormal_circadian_rhythm1.11809375
68MP0002752_abnormal_somatic_nervous1.07039049
69MP0005551_abnormal_eye_electrophysiolog1.05758445
70MP0002653_abnormal_ependyma_morphology1.05235749
71MP0003879_abnormal_hair_cell1.03874862
72MP0006276_abnormal_autonomic_nervous1.02778632
73MP0000631_abnormal_neuroendocrine_gland0.98586824
74MP0002638_abnormal_pupillary_reflex0.96866920
75MP0005499_abnormal_olfactory_system0.95601352
76MP0005394_taste/olfaction_phenotype0.95601352
77MP0000569_abnormal_digit_pigmentation0.88157116
78MP0010678_abnormal_skin_adnexa0.86014632
79MP0002909_abnormal_adrenal_gland0.85932561
80MP0001299_abnormal_eye_distance/0.85300715
81MP0004133_heterotaxia0.85173188
82MP0003942_abnormal_urinary_system0.84275230
83MP0000026_abnormal_inner_ear0.82638038
84MP0003938_abnormal_ear_development0.78723906
85MP0001346_abnormal_lacrimal_gland0.78440706
86MP0000462_abnormal_digestive_system0.77978195
87MP0000566_synostosis0.77678739
88MP0003861_abnormal_nervous_system0.77584846
89MP0004145_abnormal_muscle_electrophysio0.76867518
90MP0002069_abnormal_eating/drinking_beha0.75972702
91MP0003123_paternal_imprinting0.75529884
92MP0000534_abnormal_ureter_morphology0.73842779
93MP0000762_abnormal_tongue_morphology0.72629260
94MP0000579_abnormal_nail_morphology0.72576625
95MP0003121_genomic_imprinting0.69425755
96MP0005187_abnormal_penis_morphology0.69293555
97MP0008872_abnormal_physiological_respon0.68330851
98MP0003137_abnormal_impulse_conducting0.68124613
99MP0005257_abnormal_intraocular_pressure0.67072331
100MP0001664_abnormal_digestion0.66740364
101MP0000049_abnormal_middle_ear0.66624000
102MP0001943_abnormal_respiration0.66456729
103MP0006072_abnormal_retinal_apoptosis0.65815923
104MP0005248_abnormal_Harderian_gland0.65531078
105MP0002089_abnormal_postnatal_growth/wei0.65201350
106MP0002938_white_spotting0.64730295
107MP0004085_abnormal_heartbeat0.64400378
108MP0005410_abnormal_fertilization0.64069124
109MP0005503_abnormal_tendon_morphology0.63868261
110MP0008874_decreased_physiological_sensi0.63078145
111MP0010030_abnormal_orbit_morphology0.61607844
112MP0003950_abnormal_plasma_membrane0.60830171
113MP0005167_abnormal_blood-brain_barrier0.59750477
114MP0002116_abnormal_craniofacial_bone0.58795630
115MP0003385_abnormal_body_wall0.57472643
116MP0010769_abnormal_survival0.57233764
117MP0000383_abnormal_hair_follicle0.55601744
118MP0001348_abnormal_lacrimal_gland0.55155249

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.23812804
2Focal motor seizures (HP:0011153)5.29818906
3Ankle clonus (HP:0011448)4.07417565
4Focal seizures (HP:0007359)3.95914676
5Degeneration of the lateral corticospinal tracts (HP:0002314)3.80110683
6Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.80110683
7Neurofibrillary tangles (HP:0002185)3.71027465
8Abnormality of the corticospinal tract (HP:0002492)3.53795657
9Action tremor (HP:0002345)3.51606297
10Supranuclear gaze palsy (HP:0000605)3.51174696
11Peripheral hypomyelination (HP:0007182)3.46088332
12Epileptic encephalopathy (HP:0200134)3.21288671
13Alacrima (HP:0000522)3.18207662
14Spastic gait (HP:0002064)3.09771174
15Dysmetria (HP:0001310)3.06599859
16Intention tremor (HP:0002080)2.93649325
17Febrile seizures (HP:0002373)2.90929512
18Onion bulb formation (HP:0003383)2.89271343
19Aplasia involving bones of the extremities (HP:0009825)2.84088971
20Aplasia involving bones of the upper limbs (HP:0009823)2.84088971
21Aplasia of the phalanges of the hand (HP:0009802)2.84088971
22Cerebral inclusion bodies (HP:0100314)2.83826177
23Atonic seizures (HP:0010819)2.80618285
24Scanning speech (HP:0002168)2.80158781
25Broad-based gait (HP:0002136)2.78406834
26Limb dystonia (HP:0002451)2.76647317
27Dysdiadochokinesis (HP:0002075)2.71826065
28Termporal pattern (HP:0011008)2.67735757
29Insidious onset (HP:0003587)2.67735757
30Progressive cerebellar ataxia (HP:0002073)2.65415621
31Abnormal auditory evoked potentials (HP:0006958)2.63121566
32Visual hallucinations (HP:0002367)2.60269338
33Megalencephaly (HP:0001355)2.57985864
34Decreased lacrimation (HP:0000633)2.55764699
35Increased circulating renin level (HP:0000848)2.55461519
36Torticollis (HP:0000473)2.46429334
37Cerebral hypomyelination (HP:0006808)2.45714535
38Metabolic alkalosis (HP:0200114)2.42532631
39Generalized tonic-clonic seizures (HP:0002069)2.40490729
40Gaze-evoked nystagmus (HP:0000640)2.39882336
41Sensory axonal neuropathy (HP:0003390)2.39040462
42Lower limb muscle weakness (HP:0007340)2.38706045
43Hemiplegia (HP:0002301)2.38595203
44Urinary bladder sphincter dysfunction (HP:0002839)2.38387284
45Postural instability (HP:0002172)2.36665105
46Dialeptic seizures (HP:0011146)2.33191919
47Hemiparesis (HP:0001269)2.28187490
48Urinary urgency (HP:0000012)2.25349390
49Anxiety (HP:0000739)2.25150740
50Absence seizures (HP:0002121)2.24481411
51Abnormal eating behavior (HP:0100738)2.22048403
52Genetic anticipation (HP:0003743)2.16928945
53Clonus (HP:0002169)2.16389278
54Split foot (HP:0001839)2.15209830
55Depression (HP:0000716)2.12800845
56Impaired vibration sensation in the lower limbs (HP:0002166)2.10971535
57Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.10471072
58Poor eye contact (HP:0000817)2.10057570
59Abnormal ciliary motility (HP:0012262)2.06770331
60Impaired social interactions (HP:0000735)2.05951013
61Abnormal social behavior (HP:0012433)2.05951013
62Status epilepticus (HP:0002133)2.03833193
63Abnormality of the lower motor neuron (HP:0002366)2.02713030
64Focal dystonia (HP:0004373)2.01104571
65Hypokalemic alkalosis (HP:0001949)1.99896786
66Mutism (HP:0002300)1.97020841
67Abnormal respiratory motile cilium physiology (HP:0012261)1.96875515
68Hypomagnesemia (HP:0002917)1.96263134
69Cutaneous finger syndactyly (HP:0010554)1.95923546
70Neonatal short-limb short stature (HP:0008921)1.94682886
71Morphological abnormality of the inner ear (HP:0011390)1.93646802
72Craniofacial dystonia (HP:0012179)1.92855764
73Absent speech (HP:0001344)1.91621212
74Bowel incontinence (HP:0002607)1.91331542
75Excessive salivation (HP:0003781)1.89272771
76Drooling (HP:0002307)1.89272771
77Epileptiform EEG discharges (HP:0011182)1.89263947
78Annular pancreas (HP:0001734)1.88458143
79Thickened helices (HP:0000391)1.87886823
80Truncal ataxia (HP:0002078)1.87431632
81Blue irides (HP:0000635)1.87215026
82Shallow orbits (HP:0000586)1.85941878
83Stereotypic behavior (HP:0000733)1.85203967
84Abnormal respiratory epithelium morphology (HP:0012253)1.85084273
85Abnormal respiratory motile cilium morphology (HP:0005938)1.85084273
86Akinesia (HP:0002304)1.83690868
87Retinal dysplasia (HP:0007973)1.82446835
88Specific learning disability (HP:0001328)1.81226263
89Segmental peripheral demyelination/remyelination (HP:0003481)1.80912147
90Obstructive sleep apnea (HP:0002870)1.80327724
91Abnormality of the diencephalon (HP:0010662)1.78897268
92Sleep apnea (HP:0010535)1.77781040
93Slow saccadic eye movements (HP:0000514)1.76515565
94Pheochromocytoma (HP:0002666)1.76499158
95Abnormality of the ischium (HP:0003174)1.75449750
96Spastic tetraparesis (HP:0001285)1.75394475
97Parakeratosis (HP:0001036)1.74347914
98Hyperventilation (HP:0002883)1.74311880
99Clumsiness (HP:0002312)1.73923428
100Abnormal large intestine physiology (HP:0012700)1.73811337
101Cutaneous syndactyly (HP:0012725)1.71583515
102Absent/shortened dynein arms (HP:0200106)1.71553127
103Dynein arm defect of respiratory motile cilia (HP:0012255)1.71553127
104Coronal craniosynostosis (HP:0004440)1.70829726
105Absent septum pellucidum (HP:0001331)1.70668692
106Anteriorly placed anus (HP:0001545)1.69291270
107Bronchomalacia (HP:0002780)1.68628281
108EEG with generalized epileptiform discharges (HP:0011198)1.68267670
109Hammertoe (HP:0001765)1.67890466
110Dysphonia (HP:0001618)1.67319639
111Abnormality of binocular vision (HP:0011514)1.66870257
112Diplopia (HP:0000651)1.66870257
113Overriding aorta (HP:0002623)1.66795347
114Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.66734753
115Decreased motor nerve conduction velocity (HP:0003431)1.66509192
116Ulnar claw (HP:0001178)1.66288250
117Esophageal atresia (HP:0002032)1.66282158
118Fetal akinesia sequence (HP:0001989)1.66049070
119Turricephaly (HP:0000262)1.65209289
120Bell-shaped thorax (HP:0001591)1.64331577
121Morphological abnormality of the pyramidal tract (HP:0002062)1.64270460
122Rhinitis (HP:0012384)1.63888549
123Polyphagia (HP:0002591)1.62891753
124CNS hypomyelination (HP:0003429)1.62505654
125Neuronal loss in central nervous system (HP:0002529)1.62386927
126Hypsarrhythmia (HP:0002521)1.60951760
127Bradykinesia (HP:0002067)1.55528207
128Amblyopia (HP:0000646)1.54975022
129Hypoplasia of the iris (HP:0007676)1.54794158
130Abnormality of cochlea (HP:0000375)1.53700263
131Neoplasm of the heart (HP:0100544)1.53453573
132Insomnia (HP:0100785)1.53349757
133Tracheomalacia (HP:0002779)1.51587771

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.05827194
2STK393.17018169
3NTRK33.06162414
4OXSR12.93324165
5MARK12.61822339
6MAP3K92.53701469
7TYRO32.20854407
8NTRK12.10764668
9NTRK22.07535627
10PAK62.02845371
11CASK1.98733895
12MAP3K41.98698543
13RIPK11.93673973
14UHMK11.88497865
15MINK11.75571767
16TNIK1.73653654
17PNCK1.72286240
18BCR1.68166767
19WNK11.64909398
20WNK41.61876698
21CDK191.60373883
22PRKD31.59588239
23PRPF4B1.50418109
24SGK4941.46840162
25SGK2231.46840162
26PKN11.46445269
27NEK61.43449999
28CDK51.43446393
29KSR21.43118252
30DAPK21.40304660
31FGFR21.35510605
32CAMK2B1.26327720
33MAP2K71.25421610
34SGK21.22274231
35ICK1.18449899
36MAPKAPK51.18397298
37EPHB21.14815930
38PHKG21.12714598
39PHKG11.12714598
40KSR11.08777691
41FES1.07989832
42MAPK131.07892116
43PINK11.07113315
44MARK21.05555868
45MAP3K21.02895584
46EPHB11.02295980
47CAMK1G1.02003768
48ROCK20.96389429
49WNK30.96080913
50CSNK1G20.95674096
51CAMK2A0.94143126
52GRK50.93685252
53CDK140.92605609
54CAMK2D0.92433656
55ARAF0.92096245
56CDK150.90182545
57DDR20.89742806
58CDK180.89645999
59PAK30.87609366
60CAMKK10.87578926
61LIMK10.87163726
62FGR0.87060540
63CAMK2G0.83137420
64STK380.83016226
65STK110.82767783
66BRSK10.82210219
67MAP2K40.81944743
68CSNK1A1L0.81676268
69SGK30.80234082
70IRAK20.80204450
71ERBB20.80167896
72CDK11A0.78095307
73CSNK1G30.78033760
74PRKCH0.77681970
75PRKCG0.75787054
76TRIB30.74625025
77CAMK1D0.71057902
78MET0.70903517
79ALK0.70850055
80PRKCE0.69131370
81SGK10.68968057
82MAP3K130.66003575
83FRK0.65233946
84MUSK0.64082962
85DYRK20.63580867
86PDGFRA0.62965558
87PLK20.61907125
88LMTK20.61808073
89ROCK10.59990939
90LATS20.59857066
91FYN0.59780229
92CSNK1G10.59469101
93CAMKK20.58486493
94LATS10.58014151
95DYRK1A0.54722622
96CDC42BPA0.54288165
97CAMK10.52918651
98PDPK10.51420098
99MAPK100.50141347
100CAMK40.49943451
101MAPK150.47138309
102PTK20.46605049
103SIK20.46260165
104MAPK120.45803013
105RET0.45786756
106RPS6KA30.45202409
107CSNK1A10.45073921
108PRKD10.44806584
109AKT30.44675773
110BMPR20.44371745
111PRKCZ0.43526674
112FER0.43204123
113PTK2B0.42782130
114CSNK1E0.41184653
115BMX0.40658076
116DMPK0.40585807
117PRKD20.38671789
118CSNK1D0.38035535
119MAP2K10.37623256
120DAPK10.36323749
121CCNB10.35662141
122MAP3K70.35425422
123CDK30.34435356
124GSK3B0.32482388

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.97811993
2Synaptic vesicle cycle_Homo sapiens_hsa047212.76620213
3GABAergic synapse_Homo sapiens_hsa047272.72409664
4Olfactory transduction_Homo sapiens_hsa047402.72231446
5Morphine addiction_Homo sapiens_hsa050322.48255515
6Glutamatergic synapse_Homo sapiens_hsa047242.46124074
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.30515970
8Circadian entrainment_Homo sapiens_hsa047132.29418053
9Dopaminergic synapse_Homo sapiens_hsa047282.01303323
10Amphetamine addiction_Homo sapiens_hsa050312.00550052
11Cocaine addiction_Homo sapiens_hsa050301.98206129
12Long-term potentiation_Homo sapiens_hsa047201.89982861
13Salivary secretion_Homo sapiens_hsa049701.87414781
14Serotonergic synapse_Homo sapiens_hsa047261.86514549
15Axon guidance_Homo sapiens_hsa043601.81199820
16Gastric acid secretion_Homo sapiens_hsa049711.81056400
17Cholinergic synapse_Homo sapiens_hsa047251.79880019
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.76854535
19Long-term depression_Homo sapiens_hsa047301.72145152
20Taste transduction_Homo sapiens_hsa047421.64771033
21Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.54644569
22Collecting duct acid secretion_Homo sapiens_hsa049661.53882785
23Insulin secretion_Homo sapiens_hsa049111.50429058
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.47497006
25Renin secretion_Homo sapiens_hsa049241.42438500
26Gap junction_Homo sapiens_hsa045401.41547399
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.41226116
28Nitrogen metabolism_Homo sapiens_hsa009101.41215031
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.34311839
30Aldosterone synthesis and secretion_Homo sapiens_hsa049251.31340356
31Calcium signaling pathway_Homo sapiens_hsa040201.29434391
32Oxytocin signaling pathway_Homo sapiens_hsa049211.26641627
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.26299965
34Ether lipid metabolism_Homo sapiens_hsa005651.24685882
35GnRH signaling pathway_Homo sapiens_hsa049121.23943107
36cAMP signaling pathway_Homo sapiens_hsa040241.23692949
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.21530045
38Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.14841878
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.12931199
40Phototransduction_Homo sapiens_hsa047441.11270622
41Dorso-ventral axis formation_Homo sapiens_hsa043201.09498532
42ErbB signaling pathway_Homo sapiens_hsa040121.08975149
43Melanogenesis_Homo sapiens_hsa049161.08362883
44Histidine metabolism_Homo sapiens_hsa003401.06371343
45Vibrio cholerae infection_Homo sapiens_hsa051101.05382559
46Phospholipase D signaling pathway_Homo sapiens_hsa040721.02969384
47Phosphatidylinositol signaling system_Homo sapiens_hsa040701.02761131
48Hedgehog signaling pathway_Homo sapiens_hsa043400.96802892
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.96449570
50Tight junction_Homo sapiens_hsa045300.96336825
51Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.93988995
52Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92771891
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89235385
54Steroid biosynthesis_Homo sapiens_hsa001000.88042324
55Pancreatic secretion_Homo sapiens_hsa049720.87425111
56Ras signaling pathway_Homo sapiens_hsa040140.87043815
57Estrogen signaling pathway_Homo sapiens_hsa049150.86739128
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.86724507
59Sphingolipid signaling pathway_Homo sapiens_hsa040710.84448604
60Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.84362277
61Cardiac muscle contraction_Homo sapiens_hsa042600.81856699
62Choline metabolism in cancer_Homo sapiens_hsa052310.81219759
63Circadian rhythm_Homo sapiens_hsa047100.80511950
64Vitamin B6 metabolism_Homo sapiens_hsa007500.80218457
65Sphingolipid metabolism_Homo sapiens_hsa006000.77748605
66cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76762228
67Renal cell carcinoma_Homo sapiens_hsa052110.74869393
68Hippo signaling pathway_Homo sapiens_hsa043900.73898216
69Ovarian steroidogenesis_Homo sapiens_hsa049130.73652762
70Endocytosis_Homo sapiens_hsa041440.72854843
71Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.72477689
72ECM-receptor interaction_Homo sapiens_hsa045120.71968695
73Rap1 signaling pathway_Homo sapiens_hsa040150.71016008
74Wnt signaling pathway_Homo sapiens_hsa043100.70556607
75Type II diabetes mellitus_Homo sapiens_hsa049300.70494449
76Glioma_Homo sapiens_hsa052140.70395870
77MAPK signaling pathway_Homo sapiens_hsa040100.70318364
78Fatty acid elongation_Homo sapiens_hsa000620.69344505
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68232761
80Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66996035
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66805186
82Thyroid hormone synthesis_Homo sapiens_hsa049180.66662244
83beta-Alanine metabolism_Homo sapiens_hsa004100.65007138
84Alcoholism_Homo sapiens_hsa050340.64221681
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.63054861
86Protein digestion and absorption_Homo sapiens_hsa049740.61897406
87Oocyte meiosis_Homo sapiens_hsa041140.61671004
88Dilated cardiomyopathy_Homo sapiens_hsa054140.61285939
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.61160612
90Mineral absorption_Homo sapiens_hsa049780.60594128
91Basal cell carcinoma_Homo sapiens_hsa052170.58585803
92Inositol phosphate metabolism_Homo sapiens_hsa005620.57619027
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.56639875
94Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.56144200
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55487523
96ABC transporters_Homo sapiens_hsa020100.53617473
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52876161
98Glucagon signaling pathway_Homo sapiens_hsa049220.52851304
99Arginine and proline metabolism_Homo sapiens_hsa003300.52513150
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.52274518
101Notch signaling pathway_Homo sapiens_hsa043300.50347105
102AMPK signaling pathway_Homo sapiens_hsa041520.49743792
103Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46018877
104Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45747718
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.44540569
106Endometrial cancer_Homo sapiens_hsa052130.44213442
107Adherens junction_Homo sapiens_hsa045200.43261376
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42916957
109Prion diseases_Homo sapiens_hsa050200.41849358
110Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.41312611
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41253189
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.39564781
113Focal adhesion_Homo sapiens_hsa045100.37684390
114Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.36417084
115VEGF signaling pathway_Homo sapiens_hsa043700.34282890
116Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33303458
117Fatty acid biosynthesis_Homo sapiens_hsa000610.33026935
118Alzheimers disease_Homo sapiens_hsa050100.32280567
119Chemokine signaling pathway_Homo sapiens_hsa040620.30355105
120Bile secretion_Homo sapiens_hsa049760.30266341
121Butanoate metabolism_Homo sapiens_hsa006500.28516816

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