CAPN2

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: The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cell adhesion mediated by integrin (GO:0033627)5.21145587
2collagen fibril organization (GO:0030199)4.46665219
3hypotonic response (GO:0006971)4.40678044
4chondrocyte proliferation (GO:0035988)4.39493805
5regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.28035736
6endodermal cell differentiation (GO:0035987)4.22861066
7apoptotic cell clearance (GO:0043277)4.19875629
8plasma membrane repair (GO:0001778)4.06837386
9barbed-end actin filament capping (GO:0051016)3.97202183
10negative regulation of fatty acid transport (GO:2000192)3.89344520
11desmosome organization (GO:0002934)3.86991886
12protein heterotrimerization (GO:0070208)3.86341201
13regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.81401457
14wound healing, spreading of epidermal cells (GO:0035313)3.78142922
15vascular endothelial growth factor signaling pathway (GO:0038084)3.69139722
16maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.67620581
17protein retention in ER lumen (GO:0006621)3.58392717
18hemidesmosome assembly (GO:0031581)3.58033035
19dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.55105936
20neuron projection extension involved in neuron projection guidance (GO:1902284)3.54723010
21axon extension involved in axon guidance (GO:0048846)3.54723010
22low-density lipoprotein particle clearance (GO:0034383)3.54111634
23skin morphogenesis (GO:0043589)3.51034462
24negative regulation of anoikis (GO:2000811)3.41118816
25stress fiber assembly (GO:0043149)3.39096362
26basement membrane organization (GO:0071711)3.34302854
27protein localization to endosome (GO:0036010)3.33518751
28muscle cell migration (GO:0014812)3.33441734
29retina vasculature morphogenesis in camera-type eye (GO:0061299)3.30613727
30cellular response to vitamin (GO:0071295)3.26724633
31surfactant homeostasis (GO:0043129)3.24812835
32sequestering of extracellular ligand from receptor (GO:0035581)3.23128163
33positive regulation of endothelial cell apoptotic process (GO:2000353)3.23010827
34regulation of tight junction assembly (GO:2000810)3.20646344
35collagen metabolic process (GO:0032963)3.19388618
36cell-substrate junction assembly (GO:0007044)3.18200850
37extracellular fibril organization (GO:0043206)3.16243635
38actin filament depolymerization (GO:0030042)3.13853921
39regulation of metalloenzyme activity (GO:0048552)3.11833729
40collagen catabolic process (GO:0030574)3.10024035
41fibril organization (GO:0097435)3.09322498
42substrate-dependent cell migration (GO:0006929)3.07669218
43regulation of anoikis (GO:2000209)3.06920449
44membrane protein ectodomain proteolysis (GO:0006509)3.06316666
45epithelial cell-cell adhesion (GO:0090136)3.05883410
46multicellular organismal macromolecule metabolic process (GO:0044259)3.04158663
47renal filtration (GO:0097205)3.03931513
48wound healing, spreading of cells (GO:0044319)3.02928535
49cell migration involved in sprouting angiogenesis (GO:0002042)3.00652304
50cell-substrate adherens junction assembly (GO:0007045)2.98623891
51focal adhesion assembly (GO:0048041)2.98623891
52positive regulation of receptor recycling (GO:0001921)2.98242218
53positive regulation of p38MAPK cascade (GO:1900745)2.97704777
54extracellular matrix disassembly (GO:0022617)2.97556717
55type B pancreatic cell proliferation (GO:0044342)2.93925787
56multicellular organismal metabolic process (GO:0044236)2.89009799
57retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.87102291
58substrate adhesion-dependent cell spreading (GO:0034446)2.86302979
59multicellular organismal catabolic process (GO:0044243)2.85917071
60regulation of transforming growth factor beta2 production (GO:0032909)2.85699501
61glomerular basement membrane development (GO:0032836)2.83738346
62cellular response to interferon-alpha (GO:0035457)2.83532842
63regulation of early endosome to late endosome transport (GO:2000641)2.82188597
64cytoskeletal anchoring at plasma membrane (GO:0007016)2.81338063
65positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.80800489
66positive regulation of osteoblast proliferation (GO:0033690)2.80094864
67endothelial cell morphogenesis (GO:0001886)2.79870160
68cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.79150331
69hippo signaling (GO:0035329)2.77413154
70cellular response to vitamin D (GO:0071305)2.75174861
71negative regulation of smooth muscle cell migration (GO:0014912)2.74820871
72regulation of integrin-mediated signaling pathway (GO:2001044)2.74427267
73membrane raft organization (GO:0031579)2.73773368
74mammary gland epithelial cell proliferation (GO:0033598)2.71314972
75regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.71220366
76negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.70709568
77regulation of membrane protein ectodomain proteolysis (GO:0051043)2.70080974
78regulation of extracellular matrix disassembly (GO:0010715)2.68898694
79protein localization to cell surface (GO:0034394)2.68143566
80adherens junction assembly (GO:0034333)2.67180497
81mesenchymal-epithelial cell signaling (GO:0060638)2.66233236
82positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.65696111
83cellular copper ion homeostasis (GO:0006878)2.65511361
84dermatan sulfate biosynthetic process (GO:0030208)2.64967866
85positive regulation of adherens junction organization (GO:1903393)2.64763622
86positive regulation of blood vessel endothelial cell migration (GO:0043536)2.64488270
87glomerular filtration (GO:0003094)2.64445686
88cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.64385591
89protein targeting to plasma membrane (GO:0072661)2.62751497
90semaphorin-plexin signaling pathway (GO:0071526)2.61677734
91glomerular visceral epithelial cell development (GO:0072015)2.61668970
92protein maturation by protein folding (GO:0022417)2.59694967
93cortical actin cytoskeleton organization (GO:0030866)2.59332161
94Golgi transport vesicle coating (GO:0048200)2.59317767
95COPI coating of Golgi vesicle (GO:0048205)2.59317767
96positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.58859175
97peptidyl-proline hydroxylation (GO:0019511)2.58058834
98endothelial cell chemotaxis (GO:0035767)2.57995095
99vesicle coating (GO:0006901)2.56957769
100insulin-like growth factor receptor signaling pathway (GO:0048009)2.56604923
101regulation of macrophage cytokine production (GO:0010935)2.56511512
102positive regulation of macrophage cytokine production (GO:0060907)2.55500399
103mesodermal cell differentiation (GO:0048333)2.55173847
104regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.54876144
105response to fluid shear stress (GO:0034405)2.54256862
106kidney mesenchyme development (GO:0072074)2.52783741
107actin filament bundle organization (GO:0061572)2.52486530
108actin filament bundle assembly (GO:0051017)2.52486530
109growth hormone receptor signaling pathway (GO:0060396)2.52296223
110blood vessel endothelial cell migration (GO:0043534)2.51904573
111cell-matrix adhesion (GO:0007160)2.51641475
112positive regulation of epithelial cell migration (GO:0010634)2.49340384
113negative regulation of protein localization to plasma membrane (GO:1903077)2.48645544
114activation of Rac GTPase activity (GO:0032863)2.48106904
115pinocytosis (GO:0006907)2.48103015
116positive regulation of cell junction assembly (GO:1901890)2.47301336
117positive regulation of focal adhesion assembly (GO:0051894)2.47301336
118iron ion import (GO:0097286)2.45752861
119regulation of transforming growth factor beta1 production (GO:0032908)2.44442485
120cell-substrate adhesion (GO:0031589)2.44359111
121dermatan sulfate metabolic process (GO:0030205)2.42643533
122endocytic recycling (GO:0032456)2.41879968
123regulation of cholesterol storage (GO:0010885)2.41465154
124hyaluronan catabolic process (GO:0030214)2.41445665
125protein hydroxylation (GO:0018126)2.41026927
126extracellular matrix organization (GO:0030198)2.39275026
127SMAD protein complex assembly (GO:0007183)2.38607084
128positive regulation of establishment of protein localization to plasma membrane (GO:0090004)2.38241753
129extracellular structure organization (GO:0043062)2.38058181
130glomerular epithelial cell development (GO:0072310)2.37517646
131cell junction assembly (GO:0034329)2.36579035
132response to laminar fluid shear stress (GO:0034616)2.33490344
133keratan sulfate catabolic process (GO:0042340)2.33116984
134regulation of p38MAPK cascade (GO:1900744)2.32294919
135chondrocyte development (GO:0002063)2.31106400
136vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.31088635
137branching involved in salivary gland morphogenesis (GO:0060445)2.30566534
138positive regulation of fibroblast migration (GO:0010763)2.30092894
139extracellular matrix assembly (GO:0085029)2.29458091
140negative regulation of chondrocyte differentiation (GO:0032331)2.29449942
141positive regulation of fatty acid beta-oxidation (GO:0032000)2.29362996
142heterotypic cell-cell adhesion (GO:0034113)2.28670723
143positive regulation of glycogen biosynthetic process (GO:0045725)2.27247278
144positive regulation of axon extension (GO:0045773)2.26072156
145positive regulation of extracellular matrix organization (GO:1903055)2.25875837
146integrin-mediated signaling pathway (GO:0007229)2.25581079
147endocardial cushion development (GO:0003197)2.24879262

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.97215491
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.87336602
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.22267905
4* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.22186451
5CLOCK_20551151_ChIP-Seq_293T_Human3.11743581
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.88329787
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.47622796
8* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.40018969
9* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.30922452
10PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.22208686
11* CJUN_26792858_Chip-Seq_BT549_Human2.12214561
12ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.08206118
13SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.04469738
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.02871840
15* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.02056957
16TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93742379
17* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.87262851
18HIF1A_21447827_ChIP-Seq_MCF-7_Human1.83934585
19STAT6_21828071_ChIP-Seq_BEAS2B_Human1.81255353
20ELK3_25401928_ChIP-Seq_HUVEC_Human1.79692718
21ZNF263_19887448_ChIP-Seq_K562_Human1.78532504
22EP300_21415370_ChIP-Seq_HL-1_Mouse1.78257213
23SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.78123997
24SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.78123997
25NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.76068943
26NRF2_20460467_ChIP-Seq_MEFs_Mouse1.76068943
27CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.76034175
28WT1_19549856_ChIP-ChIP_CCG9911_Human1.75347105
29WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.74315064
30FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.73897180
31ESR1_21235772_ChIP-Seq_MCF-7_Human1.71031666
32* FOXO3_23340844_ChIP-Seq_DLD1_Human1.69775879
33TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.67613614
34CDX2_19796622_ChIP-Seq_MESCs_Mouse1.67476236
35BRD4_25478319_ChIP-Seq_HGPS_Human1.65220155
36RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.60921728
37* GATA2_21666600_ChIP-Seq_HMVEC_Human1.60032263
38* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.59479276
39EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.58860068
40* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.55014518
41EGR1_19374776_ChIP-ChIP_THP-1_Human1.54452179
42SMAD_19615063_ChIP-ChIP_OVARY_Human1.54290867
43SOX2_20726797_ChIP-Seq_SW620_Human1.52936121
44* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.52896916
45SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.52630939
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.49354901
47ZNF217_24962896_ChIP-Seq_MCF-7_Human1.47688203
48* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.46657031
49* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.43884674
50SOX9_24532713_ChIP-Seq_HFSC_Mouse1.43583637
51* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43120448
52Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.42354234
53SOX2_27498859_Chip-Seq_STOMACH_Mouse1.38750108
54TBX20_22328084_ChIP-Seq_HEART_Mouse1.35452808
55TBX20_22080862_ChIP-Seq_HEART_Mouse1.35452808
56ESR1_20079471_ChIP-ChIP_T-47D_Human1.33974213
57RACK7_27058665_Chip-Seq_MCF-7_Human1.30997877
58SALL4_18804426_ChIP-ChIP_XEN_Mouse1.29040881
59STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.28507615
60STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.28181565
61* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.27466610
62* TP53_18474530_ChIP-ChIP_U2OS_Human1.25572962
63* ATF3_27146783_Chip-Seq_COLON_Human1.22807552
64UBF1/2_26484160_Chip-Seq_HMECs_Human1.22528412
65* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.22267385
66TP53_16413492_ChIP-PET_HCT116_Human1.21934091
67* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.20884508
68* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.18205189
69THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.17216181
70* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.15968364
71* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.14316216
72NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.14007898
73* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.13012114
74* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.12762390
75CDX2_20551321_ChIP-Seq_CACO-2_Human1.12006007
76RXR_22108803_ChIP-Seq_LS180_Human1.10291078
77BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.09222850
78* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.08857403
79* KDM2B_26808549_Chip-Seq_K562_Human1.08832664
80AR_21909140_ChIP-Seq_LNCAP_Human1.06559889
81KDM2B_26808549_Chip-Seq_DND41_Human1.06104602
82NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.05513249
83* EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.05443831
84KLF5_25053715_ChIP-Seq_YYC3_Human1.04737509
85DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.04723333
86* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.04298907
87UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.04217579
88TCF7_22412390_ChIP-Seq_EML_Mouse1.02197370
89* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.01813849
90TP53_22127205_ChIP-Seq_IMR90_Human1.01811348
91* LXR_22292898_ChIP-Seq_THP-1_Human1.01299186
92ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.00335364
93NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.99412591
94TP53_20018659_ChIP-ChIP_R1E_Mouse0.98743820
95KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.98017934
96CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.97502040
97NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.97222733
98FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.97024404
99* TP53_23651856_ChIP-Seq_MEFs_Mouse0.96576508
100* LXR_22158963_ChIP-Seq_LIVER_Mouse0.96565135
101* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.96021886
102RUNX1_27514584_Chip-Seq_MCF-7_Human0.95636851
103ZFP281_18757296_ChIP-ChIP_E14_Mouse0.94904657
104VDR_24787735_ChIP-Seq_THP-1_Human0.93640103
105NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.93555278
106NFIB_24661679_ChIP-Seq_LUNG_Mouse0.93540817
107DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.93352300
108ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.92032114
109CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.91134726
110* FOXA2_19822575_ChIP-Seq_HepG2_Human0.88788145
111* SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.88547962
112* TP63_23658742_ChIP-Seq_EP156T_Human0.88223954
113SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88100374
114SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.87859525
115RXR_22158963_ChIP-Seq_LIVER_Mouse0.87825168
116* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.87696253
117AHR_22903824_ChIP-Seq_MCF-7_Human0.87444285
118SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.86894176
119WT1_25993318_ChIP-Seq_PODOCYTE_Human0.86250255
120KDM2B_26808549_Chip-Seq_JURKAT_Human0.85723569
121ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.84775171
122* GATA6_25053715_ChIP-Seq_YYC3_Human0.84697023

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.60443665
2MP0003705_abnormal_hypodermis_morpholog4.39528408
3MP0005275_abnormal_skin_tensile4.23477805
4MP0005503_abnormal_tendon_morphology3.32862373
5MP0003279_aneurysm3.14619218
6MP0004272_abnormal_basement_membrane3.05762411
7MP0001958_emphysema2.95557169
8MP0005623_abnormal_meninges_morphology2.92349731
9MP0003566_abnormal_cell_adhesion2.88809268
10MP0003091_abnormal_cell_migration2.27394929
11MP0010352_gastrointestinal_tract_polyps2.10705880
12MP0003191_abnormal_cellular_cholesterol2.10358303
13MP0005023_abnormal_wound_healing2.01502952
14MP0009384_cardiac_valve_regurgitation1.96782520
15MP0003300_gastrointestinal_ulcer1.91097125
16MP0000733_abnormal_muscle_development1.87412400
17MP0000013_abnormal_adipose_tissue1.72751774
18MP0002060_abnormal_skin_morphology1.71273356
19MP0006054_spinal_hemorrhage1.69785871
20MP0001299_abnormal_eye_distance/1.68034541
21MP0010368_abnormal_lymphatic_system1.67659213
22MP0005257_abnormal_intraocular_pressure1.64528245
23MP0003045_fibrosis1.59966892
24MP0002295_abnormal_pulmonary_circulatio1.55568707
25MP0005508_abnormal_skeleton_morphology1.54452611
26MP0002896_abnormal_bone_mineralization1.50985477
27MP0002877_abnormal_melanocyte_morpholog1.46503838
28MP0010030_abnormal_orbit_morphology1.45791553
29MP0009840_abnormal_foam_cell1.45648229
30MP0001879_abnormal_lymphatic_vessel1.45051696
31MP0000751_myopathy1.42840817
32MP0003828_pulmonary_edema1.42147616
33MP0000767_abnormal_smooth_muscle1.38864208
34MP0000750_abnormal_muscle_regeneration1.36716182
35MP0000762_abnormal_tongue_morphology1.33812773
36MP0004185_abnormal_adipocyte_glucose1.31661057
37MP0005076_abnormal_cell_differentiation1.30166283
38MP0004858_abnormal_nervous_system1.28949241
39MP0003941_abnormal_skin_development1.28540420
40MP0004130_abnormal_muscle_cell1.25887605
41MP0005451_abnormal_body_composition1.25621455
42MP0000003_abnormal_adipose_tissue1.23501807
43MP0001542_abnormal_bone_strength1.21998483
44MP0000343_altered_response_to1.20637977
45MP0002796_impaired_skin_barrier1.20113312
46MP0005409_darkened_coat_color1.19068424
47MP0005375_adipose_tissue_phenotype1.16444618
48MP0002998_abnormal_bone_remodeling1.16155191
49MP0009780_abnormal_chondrocyte_physiolo1.15494359
50MP0005666_abnormal_adipose_tissue1.15404876
51MP0009250_abnormal_appendicular_skeleto1.14372625
52MP0004084_abnormal_cardiac_muscle1.14332650
53MP0001243_abnormal_dermal_layer1.12830135
54MP0004947_skin_inflammation1.12061912
55MP0001533_abnormal_skeleton_physiology1.11969369
56MP0002108_abnormal_muscle_morphology1.11244199
57MP0001216_abnormal_epidermal_layer1.10606605
58MP0009053_abnormal_anal_canal1.09768737
59MP0005390_skeleton_phenotype1.08748628
60* MP0002168_other_aberrant_phenotype1.07389280
61MP0005058_abnormal_lysosome_morphology1.06895328
62MP0004087_abnormal_muscle_fiber1.06670180
63MP0003385_abnormal_body_wall1.06357979
64MP0000467_abnormal_esophagus_morphology1.05613378
65MP0005501_abnormal_skin_physiology1.05346280
66MP0000163_abnormal_cartilage_morphology1.04913643
67MP0004510_myositis1.04804944
68MP0002933_joint_inflammation1.04466686
69MP0004782_abnormal_surfactant_physiolog1.03206596
70MP0000749_muscle_degeneration1.02785586
71MP0005670_abnormal_white_adipose1.01944314
72MP0002282_abnormal_trachea_morphology1.01690053
73MP0002115_abnormal_skeleton_extremities0.98284748
74MP0001348_abnormal_lacrimal_gland0.98037194
75MP0000678_abnormal_parathyroid_gland0.97631566
76MP0003303_peritoneal_inflammation0.96955798
77MP0010234_abnormal_vibrissa_follicle0.96609780
78MP0003950_abnormal_plasma_membrane0.96593521
79MP0003448_altered_tumor_morphology0.95015887
80MP0008260_abnormal_autophagy0.94683778
81MP0002128_abnormal_blood_circulation0.94246421
82MP0000534_abnormal_ureter_morphology0.93813385
83MP0005164_abnormal_response_to0.92568309
84MP0002332_abnormal_exercise_endurance0.88820451
85MP0002113_abnormal_skeleton_development0.88279874
86MP0000759_abnormal_skeletal_muscle0.87393152
87MP0002089_abnormal_postnatal_growth/wei0.87198614
88MP0005621_abnormal_cell_physiology0.86550963
89MP0001614_abnormal_blood_vessel0.86435794
90MP0003436_decreased_susceptibility_to0.85972508
91MP0001849_ear_inflammation0.85325893
92MP0000428_abnormal_craniofacial_morphol0.84733237
93MP0008775_abnormal_heart_ventricle0.83383098
94MP0006138_congestive_heart_failure0.81616441
95MP0005464_abnormal_platelet_physiology0.80300787
96MP0000858_altered_metastatic_potential0.80218935
97MP0003795_abnormal_bone_structure0.79498150
98MP0003283_abnormal_digestive_organ0.79360569
99MP0003942_abnormal_urinary_system0.78180106
100MP0010630_abnormal_cardiac_muscle0.78177719
101MP0010771_integument_phenotype0.77585556
102MP0005595_abnormal_vascular_smooth0.77196913
103MP0004134_abnormal_chest_morphology0.76709734
104MP0001851_eye_inflammation0.76320100
105MP0000747_muscle_weakness0.76038983
106MP0000537_abnormal_urethra_morphology0.75623668
107MP0001915_intracranial_hemorrhage0.75363228
108MP0000569_abnormal_digit_pigmentation0.75292781
109MP0003453_abnormal_keratinocyte_physiol0.75183962
110MP0004233_abnormal_muscle_weight0.75124135
111MP0004883_abnormal_blood_vessel0.74800467
112MP0003115_abnormal_respiratory_system0.74408823
113MP0002234_abnormal_pharynx_morphology0.72964551
114MP0000249_abnormal_blood_vessel0.72132378
115MP0002972_abnormal_cardiac_muscle0.71244772
116MP0002925_abnormal_cardiovascular_devel0.70813579
117MP0003075_altered_response_to0.70716584
118MP0004036_abnormal_muscle_relaxation0.70485310
119MP0005388_respiratory_system_phenotype0.70372884
120MP0002133_abnormal_respiratory_system0.70372884
121MP0008004_abnormal_stomach_pH0.68767361
122MP0010678_abnormal_skin_adnexa0.67434428
123MP0005197_abnormal_uvea_morphology0.67358482
124MP0003329_amyloid_beta_deposits0.67014605
125MP0005165_increased_susceptibility_to0.65673438
126MP0000627_abnormal_mammary_gland0.64791191
127MP0002932_abnormal_joint_morphology0.64617170
128MP0004484_altered_response_of0.64469954

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)6.19809014
2Protrusio acetabuli (HP:0003179)5.93908144
3Shallow orbits (HP:0000586)4.16603039
4Aortic dissection (HP:0002647)4.05027065
5Atrophic scars (HP:0001075)4.02371907
6Cerebral aneurysm (HP:0004944)3.88532356
7Cervical subluxation (HP:0003308)3.69345052
8Ankle contracture (HP:0006466)3.66460516
9Broad metatarsal (HP:0001783)3.60013780
10Peritonitis (HP:0002586)3.55241402
11Aortic aneurysm (HP:0004942)3.54299805
12Increased connective tissue (HP:0009025)3.48552852
13Dilatation of the ascending aorta (HP:0005111)3.37077132
14Fragile skin (HP:0001030)3.21282281
15Spinal rigidity (HP:0003306)3.05432533
16Soft skin (HP:0000977)3.03442986
17Mitral valve prolapse (HP:0001634)3.00120420
18Bladder diverticulum (HP:0000015)2.99309707
19Type 1 muscle fiber predominance (HP:0003803)2.88625295
20Neonatal short-limb short stature (HP:0008921)2.88412508
21Wormian bones (HP:0002645)2.78531666
22Vascular tortuosity (HP:0004948)2.77290566
23Broad face (HP:0000283)2.75562009
24Interstitial pulmonary disease (HP:0006530)2.73412934
25Osteolytic defects of the hand bones (HP:0009699)2.67601261
26Osteolytic defects of the phalanges of the hand (HP:0009771)2.67601261
27Genu recurvatum (HP:0002816)2.66227643
28Vertebral compression fractures (HP:0002953)2.65018259
29Spondylolisthesis (HP:0003302)2.63316772
30Blue sclerae (HP:0000592)2.61422726
31Abnormality of dentin (HP:0010299)2.61250627
32Cardiovascular calcification (HP:0011915)2.59630524
33Arterial tortuosity (HP:0005116)2.59367541
34Upper limb amyotrophy (HP:0009129)2.51890491
35Distal upper limb amyotrophy (HP:0007149)2.51890491
36Follicular hyperkeratosis (HP:0007502)2.50293042
37Short nail (HP:0001799)2.48034156
38Wrist flexion contracture (HP:0001239)2.47474835
39Difficulty climbing stairs (HP:0003551)2.46592183
40Scapular winging (HP:0003691)2.46234001
41Reduced subcutaneous adipose tissue (HP:0003758)2.40940941
42Glucose intolerance (HP:0000833)2.40588450
43Increased variability in muscle fiber diameter (HP:0003557)2.37994869
44Aneurysm (HP:0002617)2.37480160
45Ulnar bowing (HP:0003031)2.33516914
46Milia (HP:0001056)2.33450751
47Mildly elevated creatine phosphokinase (HP:0008180)2.30693316
48Mitral stenosis (HP:0001718)2.30365930
49Distal lower limb amyotrophy (HP:0008944)2.29580929
50Natal tooth (HP:0000695)2.26553081
51Increased density of long bones (HP:0006392)2.25893176
52Thin bony cortex (HP:0002753)2.25382250
53Vascular calcification (HP:0004934)2.20052437
54Hyperextensible skin (HP:0000974)2.20008938
55Absent frontal sinuses (HP:0002688)2.19673056
56Right ventricular cardiomyopathy (HP:0011663)2.18963010
57Radial bowing (HP:0002986)2.17730363
58Abnormality of skeletal muscle fiber size (HP:0012084)2.16577453
59Abnormality of oral frenula (HP:0000190)2.16432112
60Buphthalmos (HP:0000557)2.14408869
61Camptodactyly of toe (HP:0001836)2.14295969
62Overgrowth (HP:0001548)2.13052250
63Biconcave vertebral bodies (HP:0004586)2.11151684
64Abnormality of the Achilles tendon (HP:0005109)2.07568218
65Hyporeflexia of lower limbs (HP:0002600)2.07076211
66Elbow flexion contracture (HP:0002987)2.06730645
67Hyperacusis (HP:0010780)2.06621091
68Muscle fiber splitting (HP:0003555)2.05511539
69Bowel diverticulosis (HP:0005222)2.04496934
70Ankyloglossia (HP:0010296)2.03030583
71Hand muscle atrophy (HP:0009130)2.02021208
72Onycholysis (HP:0001806)2.01733264
73Aortic regurgitation (HP:0001659)2.00771981
74Ectopia lentis (HP:0001083)2.00489505
75Bowing of the arm (HP:0006488)1.99933074
76Bowed forearm bones (HP:0003956)1.99933074
77Deviation of the hallux (HP:0010051)1.99142125
78Abnormality of the acetabulum (HP:0003170)1.99120821
79Myocardial infarction (HP:0001658)1.97162845
80Round ear (HP:0100830)1.95958341
81Spinal cord compression (HP:0002176)1.95373423
82Flat acetabular roof (HP:0003180)1.92367037
83Hallux valgus (HP:0001822)1.91709568
84Striae distensae (HP:0001065)1.90304948
85Generalized amyotrophy (HP:0003700)1.89853809
86Wide anterior fontanel (HP:0000260)1.89743812
87Mesomelia (HP:0003027)1.89520957
88Venous abnormality (HP:0002624)1.89454470
89Broad ribs (HP:0000885)1.89218597
90Joint laxity (HP:0001388)1.86494047
91Lower limb amyotrophy (HP:0007210)1.85983073
92Difficulty running (HP:0009046)1.85486507
93Abnormal ossification of hand bones (HP:0005921)1.84989372
94Mitral regurgitation (HP:0001653)1.84891302
95Osteoarthritis (HP:0002758)1.84795832
96Nail dystrophy (HP:0008404)1.83866885
97Disproportionate tall stature (HP:0001519)1.82621633
98Slender build (HP:0001533)1.82533303
99Tibial bowing (HP:0002982)1.82296779
100Infantile muscular hypotonia (HP:0008947)1.82270162
101Long toe (HP:0010511)1.81965000
102Abnormality of carpal bone ossification (HP:0006257)1.81564143
103Coxa vara (HP:0002812)1.80603204
104Abnormality of the nasal mucosa (HP:0000433)1.79963623
105Achilles tendon contracture (HP:0001771)1.79636856
106Thick nail (HP:0001805)1.79620111
107Knee flexion contracture (HP:0006380)1.79420398
108Hypoplastic ischia (HP:0003175)1.78561568
109Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.78441485
110Spinal cord lesions (HP:0100561)1.76776164
111Syringomyelia (HP:0003396)1.76776164
112Bronchomalacia (HP:0002780)1.75628312
113Joint stiffness (HP:0001387)1.75125574
114Increased mean platelet volume (HP:0011877)1.74822136
115Entropion (HP:0000621)1.74794174
116Femoral bowing (HP:0002980)1.72964836
117Cupped ribs (HP:0000887)1.72673647
118Neurofibrillary tangles (HP:0002185)1.72072260
119Abnormal delivery (HP:0001787)1.71759651
120Nuclear cataract (HP:0100018)1.71716920
121Subacute progressive viral hepatitis (HP:0006572)1.71640726
122Abnormality of the calcaneus (HP:0008364)1.71600121
123Tarsal synostosis (HP:0008368)1.70379269
124Osteopenia (HP:0000938)1.70152409
125Cerebral inclusion bodies (HP:0100314)1.70066940
126Platyspondyly (HP:0000926)1.69405486
127Distal lower limb muscle weakness (HP:0009053)1.67762623
128Turricephaly (HP:0000262)1.67310474
129Exostoses (HP:0100777)1.67135250
130Abnormality of the distal phalanges of the toes (HP:0010182)1.66895130
131Limb-girdle muscle atrophy (HP:0003797)1.66766772
132Alopecia of scalp (HP:0002293)1.66446945
133Hematochezia (HP:0002573)1.66032213
134Tetraparesis (HP:0002273)1.65489167

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.84464895
2TTN4.18767726
3DDR23.29444990
4PDGFRA2.76355464
5IRAK32.67777608
6PKN22.65907876
7ERN12.33197307
8RIPK12.25406209
9SIK12.05366956
10LATS11.96111768
11LATS21.91802591
12PTK21.81585380
13LRRK21.77410917
14PTK61.75240891
15EPHB21.72941690
16BMX1.71204432
17LMTK21.66443421
18LIMK11.66116277
19TESK11.64290211
20CAMK1D1.63978606
21TRPM71.63439901
22NTRK11.60465330
23FER1.58279607
24ICK1.50121608
25EPHA21.49346409
26EPHB11.48964754
27PAK21.48780670
28TGFBR21.43083469
29NEK91.41656924
30DMPK1.40700944
31PAK31.39868367
32PRPF4B1.36425887
33MOS1.23562878
34MET1.23146050
35MAP3K31.22799983
36EPHA31.20528652
37PDGFRB1.17481354
38CAMK1G1.15409047
39ARAF1.14884324
40FGFR41.13460532
41MAP3K131.12835220
42SCYL21.10804045
43ZAP701.10026634
44MAP2K11.08453280
45JAK11.07868120
46RPS6KA41.05701320
47ROCK11.04646759
48NME21.04609652
49MAP3K61.04249147
50PAK41.03213663
51RET1.02202309
52PTK2B1.01750822
53PIK3CA1.01105789
54ILK0.98533886
55SMG10.97479306
56FGFR10.97334752
57STK100.95813288
58FGFR20.95341825
59FRK0.94577543
60PRKG20.92459874
61MST1R0.90507234
62FGFR30.90344475
63MAP3K120.90012098
64PRKD20.88272407
65STK30.86153911
66PAK60.85589673
67TBK10.83916510
68KDR0.80810285
69MTOR0.79819091
70PRKCH0.79304003
71CAMKK10.77941088
72CDK120.77905445
73ROCK20.77425728
74MAP3K20.75958359
75PRKD30.74717833
76PRKD10.74032126
77EEF2K0.71789630
78CDK60.70945275
79MAP2K30.68587544
80JAK30.67319506
81ERBB30.65855817
82MST40.65059825
83TESK20.63974681
84MAP3K140.62586661
85PIM20.62320683
86CDK80.61713010
87CAMKK20.61500582
88SIK30.60796929
89KSR20.60170326
90INSR0.58365162
91KSR10.57898090
92PIK3CG0.56726339
93TIE10.56076568
94MELK0.55771582
95TAOK10.53983664
96SRC0.53187458
97TGFBR10.51560261
98MYLK0.51544491
99RPS6KA20.48929395
100MAP3K90.48131154
101WNK10.47250303
102MAP3K10.47090532
103EGFR0.44903659
104DAPK30.44655516
105IGF1R0.44083219
106PAK10.43839861
107GSK3A0.42743178
108TYK20.40713605
109MAP3K100.40570950
110ABL20.40432565
111CSK0.39756103
112MAPK150.39195899
113KIT0.38607766
114FLT30.38097495
115CDC42BPA0.37644341
116PDPK10.37442607
117MAPKAPK30.37111107
118MAPKAPK20.37084288
119MAP3K80.35072436
120DYRK1B0.34688853
121ERBB40.34329792
122GRK70.33160640
123PHKG10.33156238
124PHKG20.33156238
125TAOK20.32433337
126STK380.32052685
127CLK10.31977903
128STK38L0.31885337
129CAMK2G0.30957276
130HIPK20.27969421
131MAP3K70.27291908

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.18500236
2* Focal adhesion_Homo sapiens_hsa045102.53151059
3Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.20652171
4Proteoglycans in cancer_Homo sapiens_hsa052052.07628643
5Amoebiasis_Homo sapiens_hsa051461.88224834
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.78956913
7Adherens junction_Homo sapiens_hsa045201.76490353
8Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.76237225
9Dilated cardiomyopathy_Homo sapiens_hsa054141.73604015
10AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.72496716
11Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.68960240
12Nitrogen metabolism_Homo sapiens_hsa009101.63760621
13Small cell lung cancer_Homo sapiens_hsa052221.58468208
14Other glycan degradation_Homo sapiens_hsa005111.58226455
15Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.54045352
16Malaria_Homo sapiens_hsa051441.53549157
17Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.51179865
18Bladder cancer_Homo sapiens_hsa052191.49147149
19Leukocyte transendothelial migration_Homo sapiens_hsa046701.42590699
20Protein digestion and absorption_Homo sapiens_hsa049741.39719376
21Chronic myeloid leukemia_Homo sapiens_hsa052201.36235109
22Regulation of actin cytoskeleton_Homo sapiens_hsa048101.36093383
23Viral myocarditis_Homo sapiens_hsa054161.34296617
24Shigellosis_Homo sapiens_hsa051311.24501649
25Toxoplasmosis_Homo sapiens_hsa051451.20426209
26Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.17682367
27Hippo signaling pathway_Homo sapiens_hsa043901.15644900
28Lysosome_Homo sapiens_hsa041421.14444770
29Phagosome_Homo sapiens_hsa041451.14205036
30Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.13523364
31PI3K-Akt signaling pathway_Homo sapiens_hsa041511.12524579
32Pancreatic cancer_Homo sapiens_hsa052121.11825503
33PPAR signaling pathway_Homo sapiens_hsa033201.11775708
34MicroRNAs in cancer_Homo sapiens_hsa052061.09346384
35Glioma_Homo sapiens_hsa052141.09122012
36Platelet activation_Homo sapiens_hsa046111.08524159
37TGF-beta signaling pathway_Homo sapiens_hsa043501.06308225
38Salmonella infection_Homo sapiens_hsa051321.06078864
39Adipocytokine signaling pathway_Homo sapiens_hsa049201.02629707
40Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.01974455
41Tight junction_Homo sapiens_hsa045301.01407518
42Rap1 signaling pathway_Homo sapiens_hsa040151.01374934
43Vibrio cholerae infection_Homo sapiens_hsa051101.01350859
44Galactose metabolism_Homo sapiens_hsa000521.00957215
45Melanoma_Homo sapiens_hsa052180.98015282
46TNF signaling pathway_Homo sapiens_hsa046680.93391868
47Renal cell carcinoma_Homo sapiens_hsa052110.91749409
48Insulin resistance_Homo sapiens_hsa049310.91274326
49Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.91038557
50Neurotrophin signaling pathway_Homo sapiens_hsa047220.90534488
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.90534388
52Endocytosis_Homo sapiens_hsa041440.90338095
53Fatty acid biosynthesis_Homo sapiens_hsa000610.89469520
54Notch signaling pathway_Homo sapiens_hsa043300.88588217
55Hepatitis C_Homo sapiens_hsa051600.88351191
56Leishmaniasis_Homo sapiens_hsa051400.88309904
57Glycosaminoglycan degradation_Homo sapiens_hsa005310.88027221
58VEGF signaling pathway_Homo sapiens_hsa043700.87021708
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.85844019
60Central carbon metabolism in cancer_Homo sapiens_hsa052300.83485896
61Osteoclast differentiation_Homo sapiens_hsa043800.82297141
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.81609139
63Acute myeloid leukemia_Homo sapiens_hsa052210.80965063
64ErbB signaling pathway_Homo sapiens_hsa040120.80743724
65Pentose phosphate pathway_Homo sapiens_hsa000300.79090890
66Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.75935848
67Pertussis_Homo sapiens_hsa051330.74049623
68HIF-1 signaling pathway_Homo sapiens_hsa040660.74034695
69Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.73689600
70Prostate cancer_Homo sapiens_hsa052150.73645748
71Fructose and mannose metabolism_Homo sapiens_hsa000510.73306806
72Axon guidance_Homo sapiens_hsa043600.72572769
73Sphingolipid metabolism_Homo sapiens_hsa006000.71772984
74Endometrial cancer_Homo sapiens_hsa052130.71344291
75N-Glycan biosynthesis_Homo sapiens_hsa005100.70560174
76* Apoptosis_Homo sapiens_hsa042100.70527177
77* Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.70290421
78Tuberculosis_Homo sapiens_hsa051520.70156705
79Fatty acid metabolism_Homo sapiens_hsa012120.69934766
80Pathways in cancer_Homo sapiens_hsa052000.69294873
81Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.68664711
82Phospholipase D signaling pathway_Homo sapiens_hsa040720.68429390
83mTOR signaling pathway_Homo sapiens_hsa041500.67997137
84Estrogen signaling pathway_Homo sapiens_hsa049150.67385960
85AMPK signaling pathway_Homo sapiens_hsa041520.67263794
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.67249149
87Insulin signaling pathway_Homo sapiens_hsa049100.66968969
88Fatty acid degradation_Homo sapiens_hsa000710.65213232
89Caffeine metabolism_Homo sapiens_hsa002320.62649102
90Gap junction_Homo sapiens_hsa045400.62266594
91Dorso-ventral axis formation_Homo sapiens_hsa043200.59528256
92Influenza A_Homo sapiens_hsa051640.58127644
93Complement and coagulation cascades_Homo sapiens_hsa046100.56549150
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.56170264
95Toll-like receptor signaling pathway_Homo sapiens_hsa046200.56056644
96Thyroid hormone synthesis_Homo sapiens_hsa049180.54711239
97Hepatitis B_Homo sapiens_hsa051610.52846994
98Choline metabolism in cancer_Homo sapiens_hsa052310.52306988
99Ras signaling pathway_Homo sapiens_hsa040140.52042990
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.52000193
101Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51484754
102Prolactin signaling pathway_Homo sapiens_hsa049170.51219049
103Colorectal cancer_Homo sapiens_hsa052100.51011641
104Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.50779263
105Basal cell carcinoma_Homo sapiens_hsa052170.50773116
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49931943
107Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.48303142
108Prion diseases_Homo sapiens_hsa050200.48067077
109Vascular smooth muscle contraction_Homo sapiens_hsa042700.46826588
110Non-small cell lung cancer_Homo sapiens_hsa052230.46472487
111Staphylococcus aureus infection_Homo sapiens_hsa051500.46200815
112Thyroid cancer_Homo sapiens_hsa052160.46185536
113Sulfur metabolism_Homo sapiens_hsa009200.45960148
114Inositol phosphate metabolism_Homo sapiens_hsa005620.45917008
115HTLV-I infection_Homo sapiens_hsa051660.45805918
116Legionellosis_Homo sapiens_hsa051340.45647308
117GnRH signaling pathway_Homo sapiens_hsa049120.45544293
118Melanogenesis_Homo sapiens_hsa049160.45491984
119Viral carcinogenesis_Homo sapiens_hsa052030.43752949
120p53 signaling pathway_Homo sapiens_hsa041150.43744302
121Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.43560096

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