AEBP1

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 member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)7.43578823
2collagen fibril organization (GO:0030199)7.28990085
3chondrocyte proliferation (GO:0035988)6.37203618
4sequestering of extracellular ligand from receptor (GO:0035581)5.54419316
5endodermal cell differentiation (GO:0035987)5.52251660
6skin morphogenesis (GO:0043589)5.45163519
7bone trabecula formation (GO:0060346)5.42141199
8collagen metabolic process (GO:0032963)4.89885763
9collagen catabolic process (GO:0030574)4.84374247
10regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.79752247
11multicellular organismal macromolecule metabolic process (GO:0044259)4.62583016
12neuron projection extension involved in neuron projection guidance (GO:1902284)4.61114079
13axon extension involved in axon guidance (GO:0048846)4.61114079
14multicellular organismal catabolic process (GO:0044243)4.46517007
15basement membrane organization (GO:0071711)4.42213869
16cell adhesion mediated by integrin (GO:0033627)4.42063091
17multicellular organismal metabolic process (GO:0044236)4.35545680
18negative regulation of fatty acid transport (GO:2000192)4.35006180
19positive regulation of endothelial cell apoptotic process (GO:2000353)4.33272243
20cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.18018955
21extracellular matrix disassembly (GO:0022617)4.14372654
22mesenchymal-epithelial cell signaling (GO:0060638)4.11163240
23apoptotic cell clearance (GO:0043277)4.08442255
24extracellular matrix assembly (GO:0085029)4.07768512
25regulation of vascular endothelial growth factor signaling pathway (GO:1900746)4.03840734
26wound healing, spreading of epidermal cells (GO:0035313)4.03387434
27cellular response to interferon-alpha (GO:0035457)4.02741762
28glomerular basement membrane development (GO:0032836)3.94600491
29cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.92179346
30plasma membrane repair (GO:0001778)3.91997483
31peptidyl-proline hydroxylation (GO:0019511)3.89954023
32epithelial cell-cell adhesion (GO:0090136)3.86631298
33metanephric mesenchyme development (GO:0072075)3.83208216
34dermatan sulfate biosynthetic process (GO:0030208)3.81499117
35extracellular fibril organization (GO:0043206)3.74371559
36cellular response to vitamin (GO:0071295)3.73415750
37venous blood vessel morphogenesis (GO:0048845)3.73408177
38endothelial cell chemotaxis (GO:0035767)3.69376455
39keratan sulfate catabolic process (GO:0042340)3.61970929
40kidney mesenchyme development (GO:0072074)3.61106733
41chondroitin sulfate catabolic process (GO:0030207)3.58913584
42craniofacial suture morphogenesis (GO:0097094)3.58793441
43vascular endothelial growth factor signaling pathway (GO:0038084)3.54643993
44fibril organization (GO:0097435)3.50603131
45dermatan sulfate metabolic process (GO:0030205)3.45184079
46negative regulation of chondrocyte differentiation (GO:0032331)3.39243595
47protein hydroxylation (GO:0018126)3.32401115
48cellular response to vitamin D (GO:0071305)3.31500153
49retina vasculature morphogenesis in camera-type eye (GO:0061299)3.30107023
50positive regulation of macrophage activation (GO:0043032)3.29592738
51regulation of tight junction assembly (GO:2000810)3.27441839
52outer ear morphogenesis (GO:0042473)3.26598943
53extracellular matrix organization (GO:0030198)3.24462728
54positive regulation of epithelial to mesenchymal transition (GO:0010718)3.24123368
55extracellular structure organization (GO:0043062)3.23183312
56atrioventricular valve morphogenesis (GO:0003181)3.21331291
57vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.20538500
58wound healing, spreading of cells (GO:0044319)3.16429385
59cell migration involved in heart development (GO:0060973)3.16134278
60endothelial cell morphogenesis (GO:0001886)3.15782024
61protein localization to cell surface (GO:0034394)3.15624295
62regulation of extracellular matrix disassembly (GO:0010715)3.11774227
63semaphorin-plexin signaling pathway (GO:0071526)3.11654200
64planar cell polarity pathway involved in neural tube closure (GO:0090179)3.11184751
65positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003603.11023625
66embryonic cranial skeleton morphogenesis (GO:0048701)3.10852767
67type B pancreatic cell proliferation (GO:0044342)3.08069892
68barbed-end actin filament capping (GO:0051016)3.07200667
69stress fiber assembly (GO:0043149)3.06182251
70substrate adhesion-dependent cell spreading (GO:0034446)3.04732192
71cellular response to amino acid stimulus (GO:0071230)3.02432758
72positive regulation of blood vessel endothelial cell migration (GO:0043536)3.02156620
73adhesion of symbiont to host (GO:0044406)3.00337372
74blood vessel maturation (GO:0001955)3.00107278
75regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.98363958
76positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.97101316
77negative regulation of smooth muscle cell migration (GO:0014912)2.96998385
78negative regulation of adherens junction organization (GO:1903392)2.96813497
79negative regulation of focal adhesion assembly (GO:0051895)2.96813497
80negative regulation of cell junction assembly (GO:1901889)2.96813497
81chondrocyte development (GO:0002063)2.96692075
82hippo signaling (GO:0035329)2.95822583
83cell-substrate junction assembly (GO:0007044)2.92633776
84chondroitin sulfate biosynthetic process (GO:0030206)2.91810270
85glomerular visceral epithelial cell development (GO:0072015)2.89151060
86muscle cell migration (GO:0014812)2.88574911
87epoxygenase P450 pathway (GO:0019373)2.88515146
88negative regulation of catenin import into nucleus (GO:0035414)2.87843180
89adhesion of symbiont to host cell (GO:0044650)2.87086690
90virion attachment to host cell (GO:0019062)2.87086690
91positive regulation of receptor recycling (GO:0001921)2.86799017
92positive regulation of extracellular matrix organization (GO:1903055)2.83512813
93regulation of endothelial cell chemotaxis (GO:2001026)2.83430648
94endocardial cushion development (GO:0003197)2.83169153
95extracellular regulation of signal transduction (GO:1900115)2.83011549
96extracellular negative regulation of signal transduction (GO:1900116)2.83011549
97glial cell migration (GO:0008347)2.81767307
98regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.81656203
99negative regulation of leukocyte chemotaxis (GO:0002689)2.80216856
100negative regulation of cartilage development (GO:0061037)2.80200425
101cell migration involved in sprouting angiogenesis (GO:0002042)2.78623948
102G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.78134989
103camera-type eye morphogenesis (GO:0048593)2.77865721
104middle ear morphogenesis (GO:0042474)2.76951578
105insulin-like growth factor receptor signaling pathway (GO:0048009)2.76812722
106regulation of axon extension involved in axon guidance (GO:0048841)2.76061495
107glycosaminoglycan catabolic process (GO:0006027)2.75969389
108endothelial cell proliferation (GO:0001935)2.75164045
109tooth mineralization (GO:0034505)2.74541473
110positive regulation of protein kinase C signaling (GO:0090037)2.74318618
111adherens junction assembly (GO:0034333)2.73936335
112renal filtration (GO:0097205)2.73491063
113response to fluid shear stress (GO:0034405)2.72207713
114regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.71914410
115peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.70597333
116glomerular filtration (GO:0003094)2.70362548
117positive regulation of fibroblast migration (GO:0010763)2.69367951
118endochondral ossification (GO:0001958)2.67828953
119replacement ossification (GO:0036075)2.67828953
120positive regulation of osteoblast proliferation (GO:0033690)2.64809518
121coronary vasculature morphogenesis (GO:0060977)2.63840646
122protein retention in ER lumen (GO:0006621)2.61544564
123cell proliferation involved in metanephros development (GO:0072203)2.60216536
124Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.59611418
125regulation of cell migration involved in sprouting angiogenesis (GO:0090049)2.59180291
126negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.58949769
127aminoglycan catabolic process (GO:0006026)2.58549552
128surfactant homeostasis (GO:0043129)2.57620166
129artery morphogenesis (GO:0048844)2.56998049
130positive regulation of p38MAPK cascade (GO:1900745)2.55478223
131regulation of p38MAPK cascade (GO:1900744)2.54701122
132smooth muscle tissue development (GO:0048745)2.50346268
133astrocyte development (GO:0014002)2.46068962
134regulation of establishment of planar polarity (GO:0090175)2.45834470
135endocardial cushion morphogenesis (GO:0003203)2.44096344
136regulation of apoptotic cell clearance (GO:2000425)2.43574446
137cell volume homeostasis (GO:0006884)2.42516665
138myelination in peripheral nervous system (GO:0022011)2.41293960
139peripheral nervous system axon ensheathment (GO:0032292)2.41293960
140cochlea morphogenesis (GO:0090103)2.40457110

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.33720801
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.34735255
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse4.92071970
4CLOCK_20551151_ChIP-Seq_293T_Human3.60143525
5* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.54852754
6TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.16295954
7* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.13908714
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.96318798
9* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.62663874
10* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.58612775
11CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.42533346
12CJUN_26792858_Chip-Seq_BT549_Human2.41502713
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.35854990
14WT1_19549856_ChIP-ChIP_CCG9911_Human2.26019339
15* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.25134553
16ELK3_25401928_ChIP-Seq_HUVEC_Human2.08505391
17BRD4_25478319_ChIP-Seq_HGPS_Human2.07683488
18EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.04513091
19EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.03262177
20HIF1A_21447827_ChIP-Seq_MCF-7_Human2.00068475
21ESR1_21235772_ChIP-Seq_MCF-7_Human1.99830884
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.96858492
23EP300_21415370_ChIP-Seq_HL-1_Mouse1.94940786
24EGR1_19374776_ChIP-ChIP_THP-1_Human1.94903380
25PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.88500907
26NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.79482850
27NRF2_20460467_ChIP-Seq_MEFs_Mouse1.79482850
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.78364255
29P300_27058665_Chip-Seq_ZR-75-30cells_Human1.73911256
30DROSHA_22980978_ChIP-Seq_HELA_Human1.73772264
31SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.70045837
32TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66413660
33SMC1_22415368_ChIP-Seq_MEFs_Mouse1.65242051
34PPAR_26484153_Chip-Seq_NCI-H1993_Human1.63319039
35ESR1_15608294_ChIP-ChIP_MCF-7_Human1.60712765
36SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.57114279
37SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.57114279
38TP53_20018659_ChIP-ChIP_R1E_Mouse1.56403119
39ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.52980409
40JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.50701007
41ATF3_27146783_Chip-Seq_COLON_Human1.48750168
42CDX2_19796622_ChIP-Seq_MESCs_Mouse1.48289879
43UBF1/2_26484160_Chip-Seq_HMECs_Human1.47931936
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.46921319
45UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.44529040
46JARID2_20075857_ChIP-Seq_MESCs_Mouse1.41915727
47* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.41388804
48TBX20_22328084_ChIP-Seq_HEART_Mouse1.40848113
49TBX20_22080862_ChIP-Seq_HEART_Mouse1.40848113
50SOX9_24532713_ChIP-Seq_HFSC_Mouse1.40846281
51* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.40444532
52JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.40313487
53KDM2B_26808549_Chip-Seq_SUP-B15_Human1.40203493
54EED_16625203_ChIP-ChIP_MESCs_Mouse1.39157010
55* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.37120487
56TP53_22127205_ChIP-Seq_IMR90_Human1.37011784
57TP53_23651856_ChIP-Seq_MEFs_Mouse1.36635777
58RACK7_27058665_Chip-Seq_MCF-7_Human1.35544895
59NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.35391997
60ZFP281_18757296_ChIP-ChIP_E14_Mouse1.35370920
61RNF2_27304074_Chip-Seq_ESCs_Mouse1.32011385
62TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.32002808
63RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.31230095
64KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.30951219
65* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.29979392
66* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.29979392
67NFIB_24661679_ChIP-Seq_LUNG_Mouse1.29933214
68TP53_16413492_ChIP-PET_HCT116_Human1.29237358
69SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.29058536
70CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.28412615
71TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.28177169
72SMAD_19615063_ChIP-ChIP_OVARY_Human1.27781707
73SOX2_20726797_ChIP-Seq_SW620_Human1.25971616
74TP53_18474530_ChIP-ChIP_U2OS_Human1.24910915
75FOXO3_23340844_ChIP-Seq_DLD1_Human1.24774252
76LXR_22292898_ChIP-Seq_THP-1_Human1.24104407
77NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.23725729
78DNAJC2_21179169_ChIP-ChIP_NT2_Human1.22371138
79* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.21448332
80SMC3_22415368_ChIP-Seq_MEFs_Mouse1.20330948
81* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.19706618
82CTCF_27219007_Chip-Seq_Bcells_Human1.19369437
83TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18029513
84SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.17373226
85* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.17309644
86MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.17265484
87TCF7_22412390_ChIP-Seq_EML_Mouse1.15978667
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.15953066
89FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.15085791
90SUZ12_27294783_Chip-Seq_ESCs_Mouse1.14683722
91NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.14567765
92KDM2B_26808549_Chip-Seq_K562_Human1.14303212
93GATA2_21666600_ChIP-Seq_HMVEC_Human1.14249311
94HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.12999817
95P63_26484246_Chip-Seq_KERATINOCYTES_Human1.12819755
96THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.11386323
97SMC4_20622854_ChIP-Seq_HELA_Human1.10722595
98* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.10631153
99EZH2_27294783_Chip-Seq_ESCs_Mouse1.09228818
100STAT6_21828071_ChIP-Seq_BEAS2B_Human1.08477711
101EZH2_27304074_Chip-Seq_ESCs_Mouse1.08210316
102KDM2B_26808549_Chip-Seq_DND41_Human1.07061915
103* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06790116
104SA1_22415368_ChIP-Seq_MEFs_Mouse1.05745631
105TET1_21490601_ChIP-Seq_MESCs_Mouse1.05657326
106* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.05458395
107SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.05213045
108SA1_27219007_Chip-Seq_ERYTHROID_Human1.03870347
109ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.03789295
110NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.03706579
111KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.03011326
112VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02981505
113SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02742000
114ISL1_27105846_Chip-Seq_CPCs_Mouse1.02161680
115ZFP281_27345836_Chip-Seq_ESCs_Mouse1.02019407
116ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01834306
117ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.01639171
118HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.99993476
119CTCF_27219007_Chip-Seq_ERYTHROID_Human0.99268521
120RING1B_27294783_Chip-Seq_ESCs_Mouse0.97366710
121ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.96989225
122KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.96665230
123KDM2B_26808549_Chip-Seq_JURKAT_Human0.96314735
124PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.96143016
125VDR_21846776_ChIP-Seq_THP-1_Human0.95587327
126CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.95544184
127SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.94379644
128BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.93831057
129CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.93200164
130SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92849434
131KLF5_25053715_ChIP-Seq_YYC3_Human0.92769708
132RUNX1_27514584_Chip-Seq_MCF-7_Human0.92751935
133IKZF1_21737484_ChIP-ChIP_HCT116_Human0.92553239
134RAD21_21589869_ChIP-Seq_MESCs_Mouse0.91583204
135JARID2_20064375_ChIP-Seq_MESCs_Mouse0.91189297
136ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90023737

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.02139402
2MP0005275_abnormal_skin_tensile5.58457471
3MP0005503_abnormal_tendon_morphology5.37509594
4MP0003705_abnormal_hypodermis_morpholog4.41209027
5MP0003279_aneurysm4.12216272
6MP0001958_emphysema3.54163170
7MP0005623_abnormal_meninges_morphology2.83139427
8MP0004272_abnormal_basement_membrane2.60534389
9MP0006054_spinal_hemorrhage2.59722761
10MP0009384_cardiac_valve_regurgitation2.57760369
11MP0005257_abnormal_intraocular_pressure2.34078061
12MP0005508_abnormal_skeleton_morphology2.19981711
13MP0003566_abnormal_cell_adhesion2.14771190
14MP0002060_abnormal_skin_morphology2.01769369
15MP0002295_abnormal_pulmonary_circulatio1.87246986
16MP0003091_abnormal_cell_migration1.78759010
17MP0002108_abnormal_muscle_morphology1.76406479
18MP0010352_gastrointestinal_tract_polyps1.75253553
19* MP0005023_abnormal_wound_healing1.74885122
20MP0009250_abnormal_appendicular_skeleto1.63132928
21MP0010030_abnormal_orbit_morphology1.62671626
22MP0000013_abnormal_adipose_tissue1.60612071
23MP0001542_abnormal_bone_strength1.58401950
24MP0000733_abnormal_muscle_development1.54321084
25MP0002896_abnormal_bone_mineralization1.50350279
26MP0001243_abnormal_dermal_layer1.46722690
27MP0002877_abnormal_melanocyte_morpholog1.45594038
28MP0004858_abnormal_nervous_system1.44773017
29MP0000751_myopathy1.40135555
30MP0005409_darkened_coat_color1.39531617
31MP0000767_abnormal_smooth_muscle1.35304176
32MP0002933_joint_inflammation1.34407022
33MP0003283_abnormal_digestive_organ1.32957748
34MP0003045_fibrosis1.32235067
35* MP0003385_abnormal_body_wall1.31758794
36MP0001299_abnormal_eye_distance/1.28327248
37MP0005058_abnormal_lysosome_morphology1.25270787
38MP0005390_skeleton_phenotype1.23870982
39MP0010368_abnormal_lymphatic_system1.20385060
40MP0002168_other_aberrant_phenotype1.20161203
41MP0004134_abnormal_chest_morphology1.17895997
42MP0002115_abnormal_skeleton_extremities1.15161770
43MP0000163_abnormal_cartilage_morphology1.11605301
44MP0002282_abnormal_trachea_morphology1.11524980
45MP0001348_abnormal_lacrimal_gland1.11080511
46MP0000428_abnormal_craniofacial_morphol1.09286214
47MP0000750_abnormal_muscle_regeneration1.07163273
48MP0000534_abnormal_ureter_morphology1.05999697
49MP0002998_abnormal_bone_remodeling1.03618726
50MP0003115_abnormal_respiratory_system1.01458229
51MP0003300_gastrointestinal_ulcer1.00272181
52MP0000003_abnormal_adipose_tissue0.99699605
53MP0002932_abnormal_joint_morphology0.99698073
54MP0000462_abnormal_digestive_system0.98925307
55MP0003942_abnormal_urinary_system0.98239931
56MP0002254_reproductive_system_inflammat0.97915801
57MP0005171_absent_coat_pigmentation0.93974930
58MP0002113_abnormal_skeleton_development0.93306714
59MP0006138_congestive_heart_failure0.91587423
60MP0005076_abnormal_cell_differentiation0.91346367
61MP0009053_abnormal_anal_canal0.91211267
62MP0005670_abnormal_white_adipose0.89485277
63MP0001879_abnormal_lymphatic_vessel0.86132251
64MP0000759_abnormal_skeletal_muscle0.85703349
65MP0002089_abnormal_postnatal_growth/wei0.85700972
66MP0001533_abnormal_skeleton_physiology0.83166413
67MP0003755_abnormal_palate_morphology0.81407745
68MP0002128_abnormal_blood_circulation0.81198686
69MP0005164_abnormal_response_to0.80580267
70MP0004233_abnormal_muscle_weight0.78164064
71MP0001614_abnormal_blood_vessel0.77560180
72MP0003795_abnormal_bone_structure0.76921800
73MP0005197_abnormal_uvea_morphology0.76538292
74MP0004087_abnormal_muscle_fiber0.76021189
75MP0000049_abnormal_middle_ear0.75933262
76MP0004036_abnormal_muscle_relaxation0.75740959
77MP0004084_abnormal_cardiac_muscle0.75526163
78MP0000749_muscle_degeneration0.74935879
79MP0003329_amyloid_beta_deposits0.73962684
80MP0005595_abnormal_vascular_smooth0.73655867
81MP0003448_altered_tumor_morphology0.73388760
82MP0009780_abnormal_chondrocyte_physiolo0.72871529
83MP0004883_abnormal_blood_vessel0.72452656
84MP0004381_abnormal_hair_follicle0.72285870
85MP0001849_ear_inflammation0.71526629
86MP0002109_abnormal_limb_morphology0.68571280
87MP0000432_abnormal_head_morphology0.68141231
88MP0001915_intracranial_hemorrhage0.67640179
89MP0002249_abnormal_larynx_morphology0.67151564
90MP0005369_muscle_phenotype0.66638436
91MP0003935_abnormal_craniofacial_develop0.66321625
92MP0000678_abnormal_parathyroid_gland0.66308593
93MP0005375_adipose_tissue_phenotype0.65844899
94MP0002116_abnormal_craniofacial_bone0.65819529
95MP0000858_altered_metastatic_potential0.65756740
96MP0002133_abnormal_respiratory_system0.64804078
97MP0005388_respiratory_system_phenotype0.64804078
98MP0001175_abnormal_lung_morphology0.62602584
99MP0002925_abnormal_cardiovascular_devel0.62378244
100MP0000249_abnormal_blood_vessel0.61628941
101MP0002837_dystrophic_cardiac_calcinosis0.61330717
102MP0003172_abnormal_lysosome_physiology0.60056251
103MP0001502_abnormal_circadian_rhythm0.59360549
104MP0001177_atelectasis0.58348368
105MP0002114_abnormal_axial_skeleton0.58010417
106MP0000343_altered_response_to0.57810500
107MP0005193_abnormal_anterior_eye0.57622574
108MP0001270_distended_abdomen0.57551980
109MP0002233_abnormal_nose_morphology0.57210188
110MP0000747_muscle_weakness0.55878825
111MP0003634_abnormal_glial_cell0.54030491
112MP0009840_abnormal_foam_cell0.53688840
113MP0009278_abnormal_bone_marrow0.53309572
114MP0005165_increased_susceptibility_to0.52534973
115MP0003941_abnormal_skin_development0.52330203
116MP0003937_abnormal_limbs/digits/tail_de0.51616217
117MP0004185_abnormal_adipocyte_glucose0.51595614
118MP0000762_abnormal_tongue_morphology0.51496484
119MP0002697_abnormal_eye_size0.51046458
120MP0000604_amyloidosis0.50281204

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.84780520
2Premature rupture of membranes (HP:0001788)8.65846930
3Aortic dissection (HP:0002647)5.57084781
4Ankle contracture (HP:0006466)5.42505291
5Peritonitis (HP:0002586)4.98228895
6Shallow orbits (HP:0000586)4.91461323
7Soft skin (HP:0000977)4.83511613
8Atrophic scars (HP:0001075)4.57902134
9Broad metatarsal (HP:0001783)4.55286685
10Aortic aneurysm (HP:0004942)4.53237429
11Cerebral aneurysm (HP:0004944)4.31689534
12Bladder diverticulum (HP:0000015)4.23603276
13Fragile skin (HP:0001030)4.18144872
14Dilatation of the ascending aorta (HP:0005111)4.02686540
15Type 1 muscle fiber predominance (HP:0003803)3.98229803
16Abnormality of dentin (HP:0010299)3.98121648
17Cervical subluxation (HP:0003308)3.96778777
18Genu recurvatum (HP:0002816)3.78333888
19Vertebral compression fractures (HP:0002953)3.70568399
20Follicular hyperkeratosis (HP:0007502)3.59606323
21Neonatal short-limb short stature (HP:0008921)3.54935793
22Mitral valve prolapse (HP:0001634)3.54407975
23Blue sclerae (HP:0000592)3.47106832
24Wrist flexion contracture (HP:0001239)3.46249722
25Wormian bones (HP:0002645)3.44691457
26Spinal rigidity (HP:0003306)3.37779500
27Vascular tortuosity (HP:0004948)3.35800981
28Increased connective tissue (HP:0009025)3.34844446
29Biconcave vertebral bodies (HP:0004586)3.29805232
30Bowel diverticulosis (HP:0005222)3.05709865
31Arterial tortuosity (HP:0005116)3.03502375
32Slender build (HP:0001533)2.96028851
33Hyperextensible skin (HP:0000974)2.94949060
34Abnormal delivery (HP:0001787)2.93540330
35Overgrowth (HP:0001548)2.89594926
36Increased variability in muscle fiber diameter (HP:0003557)2.76546187
37Abnormality of the acetabulum (HP:0003170)2.70383064
38Infantile muscular hypotonia (HP:0008947)2.70235447
39Obstructive sleep apnea (HP:0002870)2.69467149
40Aneurysm (HP:0002617)2.65793182
41Mildly elevated creatine phosphokinase (HP:0008180)2.65320528
42Spondylolisthesis (HP:0003302)2.64042412
43Elbow flexion contracture (HP:0002987)2.56125133
44Ulnar bowing (HP:0003031)2.48949194
45Abnormality of skeletal muscle fiber size (HP:0012084)2.42779155
46Joint laxity (HP:0001388)2.41225347
47Osteolytic defects of the phalanges of the hand (HP:0009771)2.39395065
48Osteolytic defects of the hand bones (HP:0009699)2.39395065
49Hyperacusis (HP:0010780)2.39078399
50Round ear (HP:0100830)2.36374998
51Ectopia lentis (HP:0001083)2.35724719
52Abnormality of the peritoneum (HP:0002585)2.35138261
53Thin bony cortex (HP:0002753)2.34900349
54Deviation of the hallux (HP:0010051)2.33204860
55Turricephaly (HP:0000262)2.31967661
56Breech presentation (HP:0001623)2.29367811
57Wide anterior fontanel (HP:0000260)2.27939381
58Hypoplasia of the iris (HP:0007676)2.24368053
59Hallux valgus (HP:0001822)2.24268864
60Systemic lupus erythematosus (HP:0002725)2.24132369
61Persistence of primary teeth (HP:0006335)2.22377585
62Camptodactyly of toe (HP:0001836)2.20715756
63Distal upper limb amyotrophy (HP:0007149)2.20011124
64Upper limb amyotrophy (HP:0009129)2.20011124
65Aortic valve stenosis (HP:0001650)2.19994315
66Broad ribs (HP:0000885)2.18362667
67Hypoventilation (HP:0002791)2.17344798
68Buphthalmos (HP:0000557)2.14720780
69Nonimmune hydrops fetalis (HP:0001790)2.13060431
70Tibial bowing (HP:0002982)2.12826495
71Osteoarthritis (HP:0002758)2.08102128
72Natal tooth (HP:0000695)2.07114656
73Coxa vara (HP:0002812)2.05500366
74Venous abnormality (HP:0002624)2.04369507
75Striae distensae (HP:0001065)2.03682210
76Pulmonary artery stenosis (HP:0004415)2.02796500
77Increased density of long bones (HP:0006392)2.02017174
78Mesomelia (HP:0003027)2.01521537
79Mitral regurgitation (HP:0001653)2.01120074
80Joint stiffness (HP:0001387)2.00956847
81Abnormality of complement system (HP:0005339)2.00887666
82Radial bowing (HP:0002986)2.00671672
83Congenital glaucoma (HP:0001087)1.99590037
84Coronal craniosynostosis (HP:0004440)1.99311356
85Femoral bowing (HP:0002980)1.98998282
86Venous insufficiency (HP:0005293)1.97633471
87Bell-shaped thorax (HP:0001591)1.96854758
88Lymphangioma (HP:0100764)1.96174021
89Emphysema (HP:0002097)1.95474789
90Difficulty climbing stairs (HP:0003551)1.94451903
91Flat cornea (HP:0007720)1.94271146
92Bowing of the arm (HP:0006488)1.92721081
93Bowed forearm bones (HP:0003956)1.92721081
94Muscle fiber splitting (HP:0003555)1.91656922
95Renovascular hypertension (HP:0100817)1.90827600
96J-shaped sella turcica (HP:0002680)1.88403105
97Knee flexion contracture (HP:0006380)1.88019089
98Tarsal synostosis (HP:0008368)1.87868073
99Broad face (HP:0000283)1.87271311
100Short nail (HP:0001799)1.86630871
101Absent frontal sinuses (HP:0002688)1.85780223
102Complement deficiency (HP:0004431)1.85505814
103Long toe (HP:0010511)1.85186544
104Protruding ear (HP:0000411)1.84179502
105Aortic regurgitation (HP:0001659)1.83782247
106Delayed closure of the anterior fontanelle (HP:0001476)1.82536006
107Nuclear cataract (HP:0100018)1.82440235
108Limited hip movement (HP:0008800)1.81373692
109Scapular winging (HP:0003691)1.81348154
110Inguinal hernia (HP:0000023)1.80976644
111Disproportionate tall stature (HP:0001519)1.79273781
112Thin ribs (HP:0000883)1.79107388
113Thin skin (HP:0000963)1.79010268
114Osteopenia (HP:0000938)1.78833330
115Generalized amyotrophy (HP:0003700)1.78246683
116Ulnar deviation of the wrist (HP:0003049)1.77429048
117Renal duplication (HP:0000075)1.77408549
118Spinal cord lesions (HP:0100561)1.77372944
119Syringomyelia (HP:0003396)1.77372944
120Broad long bones (HP:0005622)1.76587149
121Morphological abnormality of the middle ear (HP:0008609)1.76311948
122Abnormality of the calcaneus (HP:0008364)1.72956200
123Enlarged penis (HP:0000040)1.72418057
124Premature skin wrinkling (HP:0100678)1.72390629
125Platyspondyly (HP:0000926)1.71463849
126Mild short stature (HP:0003502)1.70722035
127Delayed cranial suture closure (HP:0000270)1.68227786
128Abnormality of the anterior chamber (HP:0000593)1.67926039

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.75717898
2DDR24.68559398
3TTN4.42356786
4PDGFRA3.77468060
5ERN13.35103600
6LATS23.21716192
7PKN23.00655288
8LATS12.69182385
9SIK12.42709926
10PAK22.09417119
11RIPK12.06920058
12EPHB22.03099099
13TGFBR22.00213996
14BMX1.96774308
15MAP3K61.88127890
16PTK21.76122101
17FER1.75951579
18EPHA31.72278746
19TRPM71.64273662
20PAK41.61464848
21BLK1.60391117
22DMPK1.51986639
23PAK31.46980651
24MYLK1.45321779
25MET1.44438981
26LRRK21.44090874
27PTK61.40246838
28EEF2K1.38718734
29SMG11.35810522
30EPHB11.34216430
31PDGFRB1.26574905
32PTK2B1.25897338
33STK31.23201263
34FGFR11.21682007
35MAPK71.20440210
36ZAP701.19275440
37PIK3CG1.16430208
38AKT31.12339817
39PRPF4B1.11595613
40MTOR1.11330881
41RPS6KA21.09667339
42ILK1.07205704
43MOS1.06185196
44NTRK11.05644405
45NEK91.03038130
46NLK1.01922676
47ROCK11.01544337
48MST1R0.99189886
49CAMK1D0.93543327
50TESK10.93444504
51RPS6KA40.92564757
52HIPK20.90608362
53MAP3K100.89897675
54SCYL20.87612189
55PIK3CA0.85137104
56FGFR40.83216559
57PIM20.82085534
58LIMK10.81622507
59TIE10.81528401
60FLT30.78702924
61MAP2K10.76667293
62ROCK20.76302691
63RPS6KC10.74658544
64RPS6KL10.74658544
65MAPK150.74588216
66RET0.74108252
67PRKD20.72474654
68PRKD30.72455857
69MAPK120.70588934
70CAMK1G0.69760201
71PAK10.68515846
72MAP3K130.67886481
73PRKD10.64292144
74JAK10.64110660
75PRKCH0.63892707
76KIT0.63648384
77FGFR20.62758229
78ERBB20.62119902
79CDK120.61785102
80ABL20.61270779
81MAPK40.60432263
82INSR0.58401546
83MAP2K30.56554720
84RPS6KA60.56253456
85MAP3K30.55604572
86ERBB40.54811298
87CDK60.52452437
88CDC42BPA0.49839465
89TAOK10.49302372
90MARK10.49135239
91TYK20.48521993
92ICK0.47972902
93FRK0.45817364
94SRC0.45669878
95CAMKK10.45254603
96STK38L0.44698628
97MAPK110.42627615
98MAPKAPK30.42616083
99DAPK30.42456202
100PAK60.42040916
101MAP2K60.41836118
102PDPK10.41702202
103WNK10.40992067
104FGFR30.40308367
105KDR0.40186078
106CAMK2G0.36646659
107TGFBR10.35680016
108LMTK20.35637985
109CAMK10.35144314
110EPHA20.35000209
111PLK20.34477608
112PDK20.32273594
113MAPKAPK50.31590338
114MAP3K70.31260559
115MAP3K80.31032577
116NTRK30.30175221
117STK380.29122813
118TBK10.28984932
119DYRK1B0.28050717
120PRKG20.27434326
121ADRBK10.25394222
122JAK30.25314150
123GSK3A0.25012575
124CAMKK20.24554319
125TYRO30.24533936
126* MAPK10.24389244
127STK100.24269086
128MARK20.22402258
129MAPKAPK20.21255007

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.80616086
2Focal adhesion_Homo sapiens_hsa045103.35975000
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.70570882
4Protein digestion and absorption_Homo sapiens_hsa049742.60667821
5Proteoglycans in cancer_Homo sapiens_hsa052052.47867062
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.42545033
7Amoebiasis_Homo sapiens_hsa051462.40840352
8Malaria_Homo sapiens_hsa051442.32133400
9Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.13344243
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.12090961
11Bladder cancer_Homo sapiens_hsa052192.11976771
12Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.04872192
13Dilated cardiomyopathy_Homo sapiens_hsa054142.04269588
14Adherens junction_Homo sapiens_hsa045201.97302661
15TGF-beta signaling pathway_Homo sapiens_hsa043501.86627013
16Small cell lung cancer_Homo sapiens_hsa052221.74909929
17PI3K-Akt signaling pathway_Homo sapiens_hsa041511.69681164
18Chronic myeloid leukemia_Homo sapiens_hsa052201.63122389
19Glycosaminoglycan degradation_Homo sapiens_hsa005311.60288171
20MicroRNAs in cancer_Homo sapiens_hsa052061.59931164
21Hippo signaling pathway_Homo sapiens_hsa043901.55230000
22Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.44798547
23Melanoma_Homo sapiens_hsa052181.42697854
24Regulation of actin cytoskeleton_Homo sapiens_hsa048101.40856182
25Basal cell carcinoma_Homo sapiens_hsa052171.35560773
26Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.30671202
27Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.27568560
28Pancreatic cancer_Homo sapiens_hsa052121.20970966
29Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.19143854
30Leukocyte transendothelial migration_Homo sapiens_hsa046701.18639055
31Glioma_Homo sapiens_hsa052141.16406776
32Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.10212643
33Lysosome_Homo sapiens_hsa041421.09498404
34Phagosome_Homo sapiens_hsa041451.07559960
35Cyanoamino acid metabolism_Homo sapiens_hsa004601.05988411
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.05553285
37Hedgehog signaling pathway_Homo sapiens_hsa043401.05429324
38Platelet activation_Homo sapiens_hsa046111.03995943
39Ovarian steroidogenesis_Homo sapiens_hsa049131.03192112
40Dorso-ventral axis formation_Homo sapiens_hsa043201.02177397
41Prostate cancer_Homo sapiens_hsa052151.01119898
42Pathways in cancer_Homo sapiens_hsa052001.00292732
43Viral myocarditis_Homo sapiens_hsa054161.00034033
44Rap1 signaling pathway_Homo sapiens_hsa040150.98877064
45Tight junction_Homo sapiens_hsa045300.98574334
46p53 signaling pathway_Homo sapiens_hsa041150.97778767
47Shigellosis_Homo sapiens_hsa051310.96603344
48Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.91236403
49Toxoplasmosis_Homo sapiens_hsa051450.90401287
50TNF signaling pathway_Homo sapiens_hsa046680.89185066
51Renal cell carcinoma_Homo sapiens_hsa052110.88661739
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.88068118
53Axon guidance_Homo sapiens_hsa043600.84865483
54Pertussis_Homo sapiens_hsa051330.84053079
55Wnt signaling pathway_Homo sapiens_hsa043100.82483640
56HIF-1 signaling pathway_Homo sapiens_hsa040660.82095591
57mTOR signaling pathway_Homo sapiens_hsa041500.80422090
58Staphylococcus aureus infection_Homo sapiens_hsa051500.79845008
59Lysine degradation_Homo sapiens_hsa003100.79262981
60HTLV-I infection_Homo sapiens_hsa051660.78803665
61Choline metabolism in cancer_Homo sapiens_hsa052310.78255166
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.77826033
63Melanogenesis_Homo sapiens_hsa049160.76330238
64Renin secretion_Homo sapiens_hsa049240.74968899
65Salmonella infection_Homo sapiens_hsa051320.74899551
66Estrogen signaling pathway_Homo sapiens_hsa049150.72925490
67Caffeine metabolism_Homo sapiens_hsa002320.71323850
68Colorectal cancer_Homo sapiens_hsa052100.69429207
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69332620
70Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.69204489
71Gastric acid secretion_Homo sapiens_hsa049710.67909025
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.66487214
73Insulin resistance_Homo sapiens_hsa049310.66066472
74GnRH signaling pathway_Homo sapiens_hsa049120.65016070
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.64199501
76Vibrio cholerae infection_Homo sapiens_hsa051100.63597198
77Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63497400
78VEGF signaling pathway_Homo sapiens_hsa043700.63447926
79Gap junction_Homo sapiens_hsa045400.62741969
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.62391455
81Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.62131015
82ErbB signaling pathway_Homo sapiens_hsa040120.61612398
83Thyroid cancer_Homo sapiens_hsa052160.61522724
84Bile secretion_Homo sapiens_hsa049760.61311186
85Apoptosis_Homo sapiens_hsa042100.60818417
86Aldosterone synthesis and secretion_Homo sapiens_hsa049250.60136417
87Ras signaling pathway_Homo sapiens_hsa040140.59517968
88Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.59290064
89Endocytosis_Homo sapiens_hsa041440.58792645
90N-Glycan biosynthesis_Homo sapiens_hsa005100.58178302
91Thyroid hormone synthesis_Homo sapiens_hsa049180.56868163
92Cocaine addiction_Homo sapiens_hsa050300.56572406
93FoxO signaling pathway_Homo sapiens_hsa040680.56388313
94cAMP signaling pathway_Homo sapiens_hsa040240.55729025
95Phospholipase D signaling pathway_Homo sapiens_hsa040720.55682242
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.55195752
97Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.54749931
98AMPK signaling pathway_Homo sapiens_hsa041520.54734479
99Endometrial cancer_Homo sapiens_hsa052130.54591683
100Other glycan degradation_Homo sapiens_hsa005110.54547395
101Hepatitis B_Homo sapiens_hsa051610.53903628
102Renin-angiotensin system_Homo sapiens_hsa046140.52500159
103Oxytocin signaling pathway_Homo sapiens_hsa049210.52439840
104MAPK signaling pathway_Homo sapiens_hsa040100.51842231
105Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.51217618
106Osteoclast differentiation_Homo sapiens_hsa043800.50395171
107Insulin signaling pathway_Homo sapiens_hsa049100.50283707
108Notch signaling pathway_Homo sapiens_hsa043300.48692276
109Viral carcinogenesis_Homo sapiens_hsa052030.48086005
110Insulin secretion_Homo sapiens_hsa049110.47860690
111Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.46657209
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45737964
113Tuberculosis_Homo sapiens_hsa051520.44958105
114cGMP-PKG signaling pathway_Homo sapiens_hsa040220.44527413
115Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44438237
116Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42339288
117PPAR signaling pathway_Homo sapiens_hsa033200.40774586
118Prion diseases_Homo sapiens_hsa050200.40301726
119Complement and coagulation cascades_Homo sapiens_hsa046100.39733676
120Acute myeloid leukemia_Homo sapiens_hsa052210.38746481
121Non-small cell lung cancer_Homo sapiens_hsa052230.38359717
122Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38217903

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