CREB3L1

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 protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)6.56401285
2protein heterotrimerization (GO:0070208)6.52086058
3skin morphogenesis (GO:0043589)5.43623454
4maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.12263572
5bone trabecula formation (GO:0060346)5.11624311
6protein retention in ER lumen (GO:0006621)5.03135284
7chondrocyte proliferation (GO:0035988)5.02160586
8endodermal cell differentiation (GO:0035987)5.00643092
9COPI coating of Golgi vesicle (GO:0048205)4.82775327
10Golgi transport vesicle coating (GO:0048200)4.82775327
11adhesion of symbiont to host cell (GO:0044650)4.66462821
12virion attachment to host cell (GO:0019062)4.66462821
13type B pancreatic cell proliferation (GO:0044342)4.62870734
14cellular response to vitamin D (GO:0071305)4.46929592
15peptidyl-proline hydroxylation (GO:0019511)4.43188865
16collagen metabolic process (GO:0032963)4.37428783
17cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.37280196
18collagen catabolic process (GO:0030574)4.30060419
19keratan sulfate catabolic process (GO:0042340)4.21721364
20multicellular organismal catabolic process (GO:0044243)4.12941505
21multicellular organismal macromolecule metabolic process (GO:0044259)4.12559875
22sequestering of extracellular ligand from receptor (GO:0035581)4.10721225
23cellular response to vitamin (GO:0071295)4.07575791
24chondrocyte development (GO:0002063)4.03974253
25polarized epithelial cell differentiation (GO:0030859)4.03301218
26multicellular organismal metabolic process (GO:0044236)4.00773324
27extracellular matrix disassembly (GO:0022617)3.99613347
28regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.95311778
29adhesion of symbiont to host (GO:0044406)3.92646499
30negative regulation of fatty acid transport (GO:2000192)3.88832754
31basement membrane organization (GO:0071711)3.77953527
32protein hydroxylation (GO:0018126)3.72651533
33epithelial cell-cell adhesion (GO:0090136)3.62353371
34extracellular fibril organization (GO:0043206)3.59627145
35wound healing, spreading of epidermal cells (GO:0035313)3.56963363
36axon extension involved in axon guidance (GO:0048846)3.53178607
37neuron projection extension involved in neuron projection guidance (GO:1902284)3.53178607
38extracellular regulation of signal transduction (GO:1900115)3.51635720
39extracellular negative regulation of signal transduction (GO:1900116)3.51635720
40cell adhesion mediated by integrin (GO:0033627)3.49487263
41endocardial cushion development (GO:0003197)3.49430072
42retina vasculature morphogenesis in camera-type eye (GO:0061299)3.45131589
43activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.43974336
44negative regulation of chondrocyte differentiation (GO:0032331)3.38130304
45positive regulation of endothelial cell apoptotic process (GO:2000353)3.34299194
46positive regulation of osteoblast proliferation (GO:0033690)3.34189055
47tooth mineralization (GO:0034505)3.27979422
48fibril organization (GO:0097435)3.27942080
49positive regulation of nuclease activity (GO:0032075)3.25706235
50actin filament depolymerization (GO:0030042)3.25394487
51COPII vesicle coating (GO:0048208)3.24066193
52barbed-end actin filament capping (GO:0051016)3.19858685
53negative regulation of cartilage development (GO:0061037)3.18422606
54apoptotic cell clearance (GO:0043277)3.17838686
55substrate-dependent cell migration (GO:0006929)3.16787470
56positive regulation of epithelial to mesenchymal transition (GO:0010718)3.14529882
57regulation of extracellular matrix disassembly (GO:0010715)3.13063789
58dermatan sulfate biosynthetic process (GO:0030208)3.11143281
59muscle cell migration (GO:0014812)3.10685381
60extracellular matrix organization (GO:0030198)3.08287407
61mesenchymal-epithelial cell signaling (GO:0060638)3.08127477
62extracellular structure organization (GO:0043062)3.07040303
63regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.06540129
64blood vessel maturation (GO:0001955)3.05878786
65glomerular basement membrane development (GO:0032836)3.03690035
66cell migration involved in sprouting angiogenesis (GO:0002042)3.03501002
67planar cell polarity pathway involved in neural tube closure (GO:0090179)3.01381980
68substrate adhesion-dependent cell spreading (GO:0034446)3.00675024
69craniofacial suture morphogenesis (GO:0097094)3.00147785
70extracellular matrix assembly (GO:0085029)2.99717971
71regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.99691827
72endoplasmic reticulum unfolded protein response (GO:0030968)2.98478510
73exocrine pancreas development (GO:0031017)2.97470543
74metanephric mesenchyme development (GO:0072075)2.96946158
75cell-substrate junction assembly (GO:0007044)2.96474550
76insulin-like growth factor receptor signaling pathway (GO:0048009)2.96212936
77endothelial cell morphogenesis (GO:0001886)2.95908293
78regulation of nuclease activity (GO:0032069)2.94122228
79regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.93804715
80heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.93692133
81negative regulation of osteoblast proliferation (GO:0033689)2.93544367
82hippo signaling (GO:0035329)2.92666079
83regulation of tight junction assembly (GO:2000810)2.92644581
84vascular endothelial growth factor signaling pathway (GO:0038084)2.92350263
85regulation of integrin-mediated signaling pathway (GO:2001044)2.91651160
86smooth muscle tissue development (GO:0048745)2.90180348
87atrioventricular valve morphogenesis (GO:0003181)2.89941043
88negative regulation of axon extension involved in axon guidance (GO:0048843)2.89231201
89cellular response to unfolded protein (GO:0034620)2.88685423
90regulation of cartilage development (GO:0061035)2.84855345
91cellular response to nutrient (GO:0031670)2.82348084
92hypotonic response (GO:0006971)2.81513044
93dermatan sulfate metabolic process (GO:0030205)2.80546690
94cochlea morphogenesis (GO:0090103)2.79359327
95G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.79077789
96endochondral ossification (GO:0001958)2.78469043
97replacement ossification (GO:0036075)2.78469043
98mesodermal cell differentiation (GO:0048333)2.77727795
99regulation of osteoblast proliferation (GO:0033688)2.75511779
100pericardium development (GO:0060039)2.73507672
101Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.71842418
102wound healing, spreading of cells (GO:0044319)2.71166491
103positive regulation of blood vessel endothelial cell migration (GO:0043536)2.70754316
104ER-nucleus signaling pathway (GO:0006984)2.70674903
105stress fiber assembly (GO:0043149)2.70418022
106negative regulation of leukocyte chemotaxis (GO:0002689)2.70405598
107adherens junction assembly (GO:0034333)2.70042646
108peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.68885067
109kidney mesenchyme development (GO:0072074)2.68787011
110establishment of apical/basal cell polarity (GO:0035089)2.68655399
111vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.68385226
112plasma membrane repair (GO:0001778)2.68184548
113negative regulation of embryonic development (GO:0045992)2.67983256
114embryonic skeletal joint morphogenesis (GO:0060272)2.67094115
115outer ear morphogenesis (GO:0042473)2.66016077
116cell migration involved in heart development (GO:0060973)2.65855269
117regulation of chondrocyte differentiation (GO:0032330)2.63568050
118negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.63427336
119positive regulation of stem cell differentiation (GO:2000738)2.62816112
120cellular response to topologically incorrect protein (GO:0035967)2.61659588
121positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)2.60838654
122regulation of establishment of planar polarity (GO:0090175)2.60202947
123cellular response to amino acid stimulus (GO:0071230)2.59849118
124branching involved in salivary gland morphogenesis (GO:0060445)2.59252503
125cell-substrate adherens junction assembly (GO:0007045)2.59021279
126focal adhesion assembly (GO:0048041)2.59021279
127regulation of gastrulation (GO:0010470)2.57496246
128endocytic recycling (GO:0032456)2.56525982
129lung vasculature development (GO:0060426)2.54781763
130retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.54713097
131response to gravity (GO:0009629)2.54712241
132positive regulation of extracellular matrix organization (GO:1903055)2.54383918
133regulation of collagen metabolic process (GO:0010712)2.53890397
134negative regulation of stem cell proliferation (GO:2000647)2.53148991
135negative regulation of BMP signaling pathway (GO:0030514)2.52682465
136positive regulation of cartilage development (GO:0061036)2.52471106
137middle ear morphogenesis (GO:0042474)2.52348052
138negative regulation of smooth muscle cell migration (GO:0014912)2.52083785
139embryonic cranial skeleton morphogenesis (GO:0048701)2.48439176

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.90095247
2TP63_17297297_ChIP-ChIP_HaCaT_Human6.25046281
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.48296200
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.30110404
5* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.88128847
6CLOCK_20551151_ChIP-Seq_293T_Human2.83791870
7RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.79956394
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.63127041
9TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.44859144
10ESR1_21235772_ChIP-Seq_MCF-7_Human2.38114938
11HIF1A_21447827_ChIP-Seq_MCF-7_Human2.36269316
12CJUN_26792858_Chip-Seq_BT549_Human2.22960287
13SMAD_19615063_ChIP-ChIP_OVARY_Human2.20918293
14CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.15104309
15ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.14756916
16ESR2_21235772_ChIP-Seq_MCF-7_Human2.05475512
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.03592674
18WT1_19549856_ChIP-ChIP_CCG9911_Human1.98896918
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.96408215
20WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.90664376
21* BRD4_25478319_ChIP-Seq_HGPS_Human1.90491641
22* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.89241334
23TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.88650610
24ELK3_25401928_ChIP-Seq_HUVEC_Human1.86387783
25EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.82774296
26STAT6_21828071_ChIP-Seq_BEAS2B_Human1.79176615
27* SOX2_20726797_ChIP-Seq_SW620_Human1.77195969
28SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.76966537
29PPAR_26484153_Chip-Seq_NCI-H1993_Human1.69927803
30P300_27058665_Chip-Seq_ZR-75-30cells_Human1.69918480
31ATF3_27146783_Chip-Seq_COLON_Human1.67975891
32EP300_21415370_ChIP-Seq_HL-1_Mouse1.60670914
33SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.59345167
34SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.59345167
35NRF2_20460467_ChIP-Seq_MEFs_Mouse1.58818818
36NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.58818818
37* RACK7_27058665_Chip-Seq_MCF-7_Human1.56028258
38KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.55428441
39SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.55223331
40SALL4_18804426_ChIP-ChIP_XEN_Mouse1.54106260
41TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.52763319
42TP53_20018659_ChIP-ChIP_R1E_Mouse1.51758046
43JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.47539176
44UBF1/2_26484160_Chip-Seq_HMECs_Human1.46288042
45UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.46257620
46FOXO3_23340844_ChIP-Seq_DLD1_Human1.45796810
47SOX9_24532713_ChIP-Seq_HFSC_Mouse1.45183094
48ZNF263_19887448_ChIP-Seq_K562_Human1.44619659
49ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.43518758
50* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.43283395
51* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.39392197
52ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.34084842
53ZNF217_24962896_ChIP-Seq_MCF-7_Human1.33775416
54JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33234929
55TP53_18474530_ChIP-ChIP_U2OS_Human1.32836923
56* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.32652208
57NFIB_24661679_ChIP-Seq_LUNG_Mouse1.31529335
58LXR_22292898_ChIP-Seq_THP-1_Human1.30800583
59SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.28673938
60RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.27071012
61CDX2_19796622_ChIP-Seq_MESCs_Mouse1.26866385
62NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.26496796
63CDX2_20551321_ChIP-Seq_CACO-2_Human1.26342405
64TP53_22127205_ChIP-Seq_IMR90_Human1.25921239
65SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.23849786
66P63_26484246_Chip-Seq_KERATINOCYTES_Human1.23688456
67EZH2_18974828_ChIP-Seq_MESCs_Mouse1.23645536
68RNF2_18974828_ChIP-Seq_MESCs_Mouse1.23645536
69ZFP281_18757296_ChIP-ChIP_E14_Mouse1.23060699
70GATA2_21666600_ChIP-Seq_HMVEC_Human1.22676514
71* KDM2B_26808549_Chip-Seq_K562_Human1.22642667
72* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.22200019
73SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.21724713
74ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.20729652
75* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.19474529
76KLF5_25053715_ChIP-Seq_YYC3_Human1.19393118
77TBX20_22080862_ChIP-Seq_HEART_Mouse1.19180319
78TBX20_22328084_ChIP-Seq_HEART_Mouse1.19180319
79* SA1_22415368_ChIP-Seq_MEFs_Mouse1.17409745
80KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16578881
81TP53_23651856_ChIP-Seq_MEFs_Mouse1.15017776
82MTF2_20144788_ChIP-Seq_MESCs_Mouse1.11712080
83TP53_16413492_ChIP-PET_HCT116_Human1.11455069
84RUNX1_27514584_Chip-Seq_MCF-7_Human1.10916625
85EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10727378
86* ISL1_27105846_Chip-Seq_CPCs_Mouse1.10442443
87DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.08342168
88* TET1_21490601_ChIP-Seq_MESCs_Mouse1.08287925
89FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.07509722
90* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.07320084
91NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.06725206
92EED_16625203_ChIP-ChIP_MESCs_Mouse1.05310958
93KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.04948606
94KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.04948606
95KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.04948606
96SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.04696876
97TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01554245
98* RAD21_21589869_ChIP-Seq_MESCs_Mouse1.00474132
99* GATA6_25053715_ChIP-Seq_YYC3_Human1.00110498
100TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99575457
101ESR1_20079471_ChIP-ChIP_T-47D_Human0.99342354
102PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98908589
103JARID2_20075857_ChIP-Seq_MESCs_Mouse0.98418133
104ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97894827
105* GATA4_25053715_ChIP-Seq_YYC3_Human0.97617364
106MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.97181011
107ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.96065849
108ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.94221824
109CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94050066
110* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.92987434
111CREB1_26743006_Chip-Seq_LNCaP_Human0.92556312
112* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.91892634
113SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.91839353
114* GATA3_24758297_ChIP-Seq_MCF-7_Human0.91311212
115* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.91193924
116AHR_22903824_ChIP-Seq_MCF-7_Human0.91031333
117NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.90750753
118ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90372187
119KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.90303638
120* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.90263683
121RXR_22108803_ChIP-Seq_LS180_Human0.90039781
122WT1_25993318_ChIP-Seq_PODOCYTE_Human0.89996551
123EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.89861894

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.31102343
2MP0005503_abnormal_tendon_morphology5.43302962
3MP0005275_abnormal_skin_tensile5.17137438
4MP0003705_abnormal_hypodermis_morpholog3.84745353
5MP0003279_aneurysm3.17348298
6MP0004272_abnormal_basement_membrane3.00799840
7MP0006054_spinal_hemorrhage2.98018883
8MP0001958_emphysema2.58257345
9MP0009384_cardiac_valve_regurgitation2.49460144
10MP0005257_abnormal_intraocular_pressure2.42412348
11MP0005623_abnormal_meninges_morphology2.42402909
12MP0005508_abnormal_skeleton_morphology2.37727784
13MP0003566_abnormal_cell_adhesion2.22611378
14* MP0001542_abnormal_bone_strength2.08403625
15MP0002060_abnormal_skin_morphology2.05728253
16MP0010030_abnormal_orbit_morphology2.02235203
17* MP0002896_abnormal_bone_mineralization2.00280000
18MP0002877_abnormal_melanocyte_morpholog1.94547198
19MP0003283_abnormal_digestive_organ1.93878683
20MP0010352_gastrointestinal_tract_polyps1.80782072
21MP0009250_abnormal_appendicular_skeleto1.76265975
22MP0002108_abnormal_muscle_morphology1.76262874
23MP0005023_abnormal_wound_healing1.74576024
24MP0003950_abnormal_plasma_membrane1.68030727
25MP0003385_abnormal_body_wall1.57303050
26MP0000163_abnormal_cartilage_morphology1.52130886
27MP0000013_abnormal_adipose_tissue1.52097453
28MP0002295_abnormal_pulmonary_circulatio1.50119814
29MP0001243_abnormal_dermal_layer1.48884212
30MP0005390_skeleton_phenotype1.48490318
31MP0005076_abnormal_cell_differentiation1.46475819
32MP0003091_abnormal_cell_migration1.42416618
33MP0002115_abnormal_skeleton_extremities1.40902859
34MP0004134_abnormal_chest_morphology1.34188442
35MP0001299_abnormal_eye_distance/1.33787745
36MP0002998_abnormal_bone_remodeling1.30423476
37MP0002933_joint_inflammation1.30343611
38MP0010386_abnormal_urinary_bladder1.29156979
39MP0000003_abnormal_adipose_tissue1.28023678
40MP0000733_abnormal_muscle_development1.27786799
41MP0003941_abnormal_skin_development1.27757836
42MP0005595_abnormal_vascular_smooth1.26185386
43MP0003942_abnormal_urinary_system1.25136842
44* MP0002113_abnormal_skeleton_development1.21087103
45MP0009053_abnormal_anal_canal1.20481992
46MP0009780_abnormal_chondrocyte_physiolo1.20225460
47MP0002282_abnormal_trachea_morphology1.17085676
48MP0000767_abnormal_smooth_muscle1.15822836
49MP0003115_abnormal_respiratory_system1.14178934
50MP0004185_abnormal_adipocyte_glucose1.13979522
51MP0000534_abnormal_ureter_morphology1.12252385
52MP0002932_abnormal_joint_morphology1.11303982
53* MP0003795_abnormal_bone_structure1.08453123
54MP0000537_abnormal_urethra_morphology1.06291171
55MP0003300_gastrointestinal_ulcer1.05390849
56MP0003755_abnormal_palate_morphology1.02622598
57MP0001533_abnormal_skeleton_physiology1.01291352
58MP0003045_fibrosis1.01034027
59MP0002254_reproductive_system_inflammat1.00272550
60MP0000049_abnormal_middle_ear0.99594627
61MP0000428_abnormal_craniofacial_morphol0.99173678
62MP0000462_abnormal_digestive_system0.98167485
63MP0002109_abnormal_limb_morphology0.97178354
64MP0002089_abnormal_postnatal_growth/wei0.95587446
65MP0002168_other_aberrant_phenotype0.94921822
66MP0000432_abnormal_head_morphology0.94746960
67MP0005220_abnormal_exocrine_pancreas0.94526516
68MP0000762_abnormal_tongue_morphology0.94341416
69MP0000538_abnormal_urinary_bladder0.94287507
70MP0009840_abnormal_foam_cell0.92802941
71MP0000750_abnormal_muscle_regeneration0.91957244
72MP0002116_abnormal_craniofacial_bone0.91704926
73MP0010368_abnormal_lymphatic_system0.90089716
74MP0003122_maternal_imprinting0.88906027
75MP0001664_abnormal_digestion0.88209774
76MP0000516_abnormal_urinary_system0.85707869
77MP0005367_renal/urinary_system_phenotyp0.85707869
78MP0005164_abnormal_response_to0.85692245
79MP0000751_myopathy0.85154343
80MP0005375_adipose_tissue_phenotype0.84440778
81MP0003935_abnormal_craniofacial_develop0.82335722
82MP0010234_abnormal_vibrissa_follicle0.81786727
83MP0000759_abnormal_skeletal_muscle0.80034342
84MP0008004_abnormal_stomach_pH0.78998993
85MP0002233_abnormal_nose_morphology0.77201086
86MP0003448_altered_tumor_morphology0.75167315
87MP0000749_muscle_degeneration0.73144082
88MP0002234_abnormal_pharynx_morphology0.71789384
89MP0005197_abnormal_uvea_morphology0.71179510
90MP0002249_abnormal_larynx_morphology0.70989317
91MP0005165_increased_susceptibility_to0.70787949
92MP0002111_abnormal_tail_morphology0.70363098
93MP0004858_abnormal_nervous_system0.69527588
94MP0001879_abnormal_lymphatic_vessel0.68352925
95MP0002128_abnormal_blood_circulation0.68018418
96MP0001614_abnormal_blood_vessel0.65148577
97MP0005388_respiratory_system_phenotype0.64935630
98MP0002133_abnormal_respiratory_system0.64935630
99MP0004197_abnormal_fetal_growth/weight/0.64472069
100MP0001849_ear_inflammation0.63678575
101MP0001175_abnormal_lung_morphology0.63358014
102MP0002925_abnormal_cardiovascular_devel0.62108543
103MP0000678_abnormal_parathyroid_gland0.62010422
104MP0001915_intracranial_hemorrhage0.61542312
105MP0000467_abnormal_esophagus_morphology0.60872849
106MP0001270_distended_abdomen0.60778405
107MP0002114_abnormal_axial_skeleton0.60619080
108MP0005360_urolithiasis0.60520479
109MP0001944_abnormal_pancreas_morphology0.60349538
110MP0010771_integument_phenotype0.59784440
111MP0001348_abnormal_lacrimal_gland0.58834299
112MP0004264_abnormal_extraembryonic_tissu0.58754375
113MP0003119_abnormal_digestive_system0.58278355
114MP0003937_abnormal_limbs/digits/tail_de0.57581146
115MP0004510_myositis0.57545145
116MP0005369_muscle_phenotype0.55733407
117MP0005058_abnormal_lysosome_morphology0.55620744
118MP0005084_abnormal_gallbladder_morpholo0.55408598
119MP0005248_abnormal_Harderian_gland0.55281219
120MP0000858_altered_metastatic_potential0.54231333
121MP0001881_abnormal_mammary_gland0.52617331
122MP0005083_abnormal_biliary_tract0.51935210
123MP0006138_congestive_heart_failure0.48918188

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.04127686
2Premature rupture of membranes (HP:0001788)7.41200240
3Atrophic scars (HP:0001075)4.56130315
4Ankle contracture (HP:0006466)4.50183230
5Aortic dissection (HP:0002647)4.38083179
6Shallow orbits (HP:0000586)4.36675246
7Neonatal short-limb short stature (HP:0008921)4.26805174
8Abnormality of dentin (HP:0010299)4.09693566
9Soft skin (HP:0000977)3.96744881
10Peritonitis (HP:0002586)3.90005911
11Cervical subluxation (HP:0003308)3.86506292
12Broad metatarsal (HP:0001783)3.75317321
13Fragile skin (HP:0001030)3.62536585
14Biconcave vertebral bodies (HP:0004586)3.62290876
15Bladder diverticulum (HP:0000015)3.61922558
16Wormian bones (HP:0002645)3.61106936
17Vertebral compression fractures (HP:0002953)3.48531975
18Genu recurvatum (HP:0002816)3.47554128
19Cerebral aneurysm (HP:0004944)3.43535092
20Follicular hyperkeratosis (HP:0007502)3.39571209
21Blue sclerae (HP:0000592)3.28557247
22Type 1 muscle fiber predominance (HP:0003803)3.26910422
23Dilatation of the ascending aorta (HP:0005111)3.20242376
24Mitral valve prolapse (HP:0001634)3.20217935
25Spinal rigidity (HP:0003306)3.20067763
26Mildly elevated creatine phosphokinase (HP:0008180)3.12793139
27Aortic aneurysm (HP:0004942)3.11878181
28Aortic regurgitation (HP:0001659)3.01808178
29Abnormality of the acetabulum (HP:0003170)2.76452100
30Hyperextensible skin (HP:0000974)2.71700979
31Hypoventilation (HP:0002791)2.67464363
32Increased connective tissue (HP:0009025)2.65988544
33Osteoarthritis (HP:0002758)2.61059487
34Slender build (HP:0001533)2.60129933
35Increased variability in muscle fiber diameter (HP:0003557)2.44616310
36Mild short stature (HP:0003502)2.43950374
37Abnormal delivery (HP:0001787)2.43879936
38Elbow flexion contracture (HP:0002987)2.43749373
39Overgrowth (HP:0001548)2.43165244
40Platyspondyly (HP:0000926)2.43035414
41Epiphyseal dysplasia (HP:0002656)2.39543825
42Hypoplastic ischia (HP:0003175)2.38477612
43Coxa vara (HP:0002812)2.37102030
44Joint laxity (HP:0001388)2.34501880
45Thin bony cortex (HP:0002753)2.33963287
46Breech presentation (HP:0001623)2.31985332
47Bowel diverticulosis (HP:0005222)2.31120646
48Cupped ribs (HP:0000887)2.31106755
49Ulnar bowing (HP:0003031)2.30031383
50Wrist flexion contracture (HP:0001239)2.29972133
51Femoral bowing (HP:0002980)2.29543363
52Disproportionate tall stature (HP:0001519)2.29253777
53Joint stiffness (HP:0001387)2.26577302
54Deviation of the hallux (HP:0010051)2.25755488
55Round ear (HP:0100830)2.25617335
56Wide anterior fontanel (HP:0000260)2.22823981
57Metaphyseal cupping (HP:0003021)2.22540884
58Infantile muscular hypotonia (HP:0008947)2.21982148
59Tibial bowing (HP:0002982)2.21377738
60Aortic valve stenosis (HP:0001650)2.19133356
61Hallux valgus (HP:0001822)2.15019545
62Nonimmune hydrops fetalis (HP:0001790)2.14622553
63Aneurysm (HP:0002617)2.14482316
64Flat acetabular roof (HP:0003180)2.12296303
65Ectopia lentis (HP:0001083)2.12033544
66Abnormality of skeletal muscle fiber size (HP:0012084)2.11170378
67Coronal craniosynostosis (HP:0004440)2.10671672
68Abnormality of the ischium (HP:0003174)2.09536579
69Right ventricular cardiomyopathy (HP:0011663)2.08473707
70Long toe (HP:0010511)2.08320296
71Beaking of vertebral bodies (HP:0004568)2.08066613
72Broad ribs (HP:0000885)2.07277890
73Osteolytic defects of the phalanges of the hand (HP:0009771)2.03283213
74Osteolytic defects of the hand bones (HP:0009699)2.03283213
75Abnormality of the distal phalanges of the toes (HP:0010182)2.02312201
76Short nail (HP:0001799)2.01803958
77Redundant skin (HP:0001582)2.01447424
78Decreased skull ossification (HP:0004331)2.01135797
79Vascular tortuosity (HP:0004948)2.00851012
80Congenital glaucoma (HP:0001087)2.00696908
81Hip contracture (HP:0003273)1.99602303
82Cardiovascular calcification (HP:0011915)1.98811865
83Spinal cord compression (HP:0002176)1.98465422
84Spondylolisthesis (HP:0003302)1.96672345
85Abnormal vertebral ossification (HP:0100569)1.95921941
86Thin ribs (HP:0000883)1.95451154
87Morphological abnormality of the middle ear (HP:0008609)1.94403049
88Abnormal tarsal ossification (HP:0008369)1.93989343
89Mitral regurgitation (HP:0001653)1.92719199
90Inguinal hernia (HP:0000023)1.91212571
91Knee flexion contracture (HP:0006380)1.89992828
92Bell-shaped thorax (HP:0001591)1.89952379
93Osteopenia (HP:0000938)1.89515107
94Pterygium (HP:0001059)1.89169493
95Thoracolumbar scoliosis (HP:0002944)1.88722186
96Ovoid vertebral bodies (HP:0003300)1.88378322
97Premature skin wrinkling (HP:0100678)1.88301680
98Distal lower limb amyotrophy (HP:0008944)1.88047733
99Hand muscle atrophy (HP:0009130)1.87367412
100Protruding ear (HP:0000411)1.87257468
101Abnormal foot bone ossification (HP:0010675)1.86834975
102Broad long bones (HP:0005622)1.85705710
103Achilles tendon contracture (HP:0001771)1.85198340
104Abnormality of skull ossification (HP:0002703)1.84927599
105Mesomelia (HP:0003027)1.84230167
106Flattened epiphyses (HP:0003071)1.82768336
107Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.82313276
108Absent frontal sinuses (HP:0002688)1.81358989
109Mitral stenosis (HP:0001718)1.80927594
110Camptodactyly of toe (HP:0001836)1.80622764
111Distal upper limb amyotrophy (HP:0007149)1.79646257
112Upper limb amyotrophy (HP:0009129)1.79646257
113Generalized amyotrophy (HP:0003700)1.78784376
114Asymmetry of the thorax (HP:0001555)1.77890861
115Natal tooth (HP:0000695)1.77732407
116Radial bowing (HP:0002986)1.76610600
117Buphthalmos (HP:0000557)1.76309737
118Limb-girdle muscle weakness (HP:0003325)1.74641901
119Arterial tortuosity (HP:0005116)1.74595711
120Small epiphyses (HP:0010585)1.74247390
121Bowed forearm bones (HP:0003956)1.73656875
122Renal duplication (HP:0000075)1.71281089
123Bowing of the arm (HP:0006488)1.69145056
124Venous abnormality (HP:0002624)1.67210534
125Stridor (HP:0010307)1.67179085
126Flat cornea (HP:0007720)1.66354037
127Hyperacusis (HP:0010780)1.64696837
128Delayed closure of the anterior fontanelle (HP:0001476)1.63446623

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.54381750
2TRIB34.46046133
3ERN13.27720356
4PDGFRA3.25482720
5LATS13.11211130
6LATS22.76990344
7TTN2.61271130
8SIK12.56755554
9EPHB22.55377260
10PKN22.55240415
11PTK21.98969266
12RIPK11.96029501
13AKT31.95862731
14EPHA31.94041785
15BMX1.93757856
16PTK61.89214196
17FER1.88382665
18PAK21.77933015
19PIM21.67733242
20STK381.66722516
21DMPK1.63129032
22MAP3K31.61158616
23TESK11.58467222
24TRPM71.57507385
25EPHA21.52622184
26MET1.48927212
27LRRK21.46694043
28MAP3K21.33986528
29FRK1.31929025
30STK31.26704451
31RPS6KA41.22315911
32PAK41.22099600
33PAK31.21551794
34MYLK1.21319293
35PRKG21.18258435
36EEF2K1.17980166
37PDGFRB1.13563090
38LIMK11.11782870
39MAP2K21.10571592
40MTOR1.10090104
41CDK121.10079367
42PRKD31.08253356
43ILK1.08035259
44MAP3K101.06217012
45MAP2K11.01134432
46GRK70.99926839
47ROCK10.94161547
48MOS0.92644808
49TGFBR20.91599609
50FGFR10.90455242
51STK38L0.89334157
52PTK2B0.87560112
53MAP3K60.86570916
54PIK3CA0.86523663
55TAOK20.86139337
56CDC42BPA0.82694628
57KIT0.82031712
58ERBB40.81176212
59SMG10.78441936
60EPHB10.77495444
61ERBB30.73495243
62NEK90.73089768
63DYRK1B0.69571767
64MST1R0.69302286
65GRK50.68478610
66CDK60.68011314
67NME20.67978974
68PRKD20.65364832
69PIK3CG0.65097087
70MAP3K70.64256378
71ICK0.63144563
72FGFR40.61778782
73CDK80.60418953
74MAPK70.58986929
75NTRK10.55290312
76RPS6KA20.53989858
77LMTK20.53412645
78MARK20.52982020
79PRKD10.52811993
80FLT30.52481636
81MAPK150.51837579
82RET0.51487798
83ROCK20.51224757
84MELK0.50353516
85TAOK10.49491696
86DAPK30.48917264
87INSR0.48629383
88MAPKAPK20.48525108
89CAMK2G0.48040011
90IRAK30.47592437
91SCYL20.47165821
92CAMK1D0.46551947
93PRKCH0.46170527
94MAPKAPK30.45147752
95CHUK0.44479514
96HIPK20.44030236
97PAK10.42041350
98PRKCI0.41351443
99WNK10.40540580
100MAPK10.40045594
101INSRR0.40016594
102RPS6KC10.39644322
103RPS6KL10.39644322
104WNK40.39084542
105STK100.38721564
106NUAK10.37851562
107ABL20.36969779
108GRK10.36754658
109CAMKK10.35659076
110GSK3A0.34806056
111MAP2K30.34334807
112JAK10.34107892
113SRC0.33225780
114CAMK1G0.33132073
115ERBB20.32656455
116TAOK30.32484788
117PRKCE0.31991178
118CAMK2D0.31605388
119MAP3K80.31562087
120PAK60.31162455
121ADRBK10.30809126
122PDPK10.30411268
123MAP3K120.30293200
124FGFR30.29231086
125TESK20.27638110
126RPS6KA60.26755772
127ARAF0.22847667

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.58048614
2Protein digestion and absorption_Homo sapiens_hsa049743.72648166
3Focal adhesion_Homo sapiens_hsa045102.95535329
4Amoebiasis_Homo sapiens_hsa051462.31751062
5Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.31613795
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.23866326
7Adherens junction_Homo sapiens_hsa045202.16356959
8Bladder cancer_Homo sapiens_hsa052192.13034337
9Proteoglycans in cancer_Homo sapiens_hsa052052.12414428
10AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.89386607
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.77534788
12TGF-beta signaling pathway_Homo sapiens_hsa043501.75773542
13Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.75281243
14Hippo signaling pathway_Homo sapiens_hsa043901.71155125
15Basal cell carcinoma_Homo sapiens_hsa052171.69265206
16Small cell lung cancer_Homo sapiens_hsa052221.64014781
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.60623077
18Hedgehog signaling pathway_Homo sapiens_hsa043401.57339030
19* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.56819943
20Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.55291025
21Dilated cardiomyopathy_Homo sapiens_hsa054141.51233325
22Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.45045929
23MicroRNAs in cancer_Homo sapiens_hsa052061.38042873
24Malaria_Homo sapiens_hsa051441.35195520
25Protein export_Homo sapiens_hsa030601.32642180
26Chronic myeloid leukemia_Homo sapiens_hsa052201.32470767
27Vibrio cholerae infection_Homo sapiens_hsa051101.31389935
28Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.31281717
29Cyanoamino acid metabolism_Homo sapiens_hsa004601.28883384
30N-Glycan biosynthesis_Homo sapiens_hsa005101.26838555
31Renin-angiotensin system_Homo sapiens_hsa046141.26735794
32Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.21534790
33Melanoma_Homo sapiens_hsa052181.16768732
34Regulation of actin cytoskeleton_Homo sapiens_hsa048101.11042695
35Pancreatic secretion_Homo sapiens_hsa049721.09527499
36Tight junction_Homo sapiens_hsa045301.08818331
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.08709433
38Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.07245030
39Leukocyte transendothelial migration_Homo sapiens_hsa046701.05945855
40* Prostate cancer_Homo sapiens_hsa052151.04383332
41Wnt signaling pathway_Homo sapiens_hsa043101.02999772
42Toxoplasmosis_Homo sapiens_hsa051451.00321684
43Pathways in cancer_Homo sapiens_hsa052000.99639561
44p53 signaling pathway_Homo sapiens_hsa041150.92305246
45Sulfur metabolism_Homo sapiens_hsa009200.91936302
46Pancreatic cancer_Homo sapiens_hsa052120.91598672
47Glioma_Homo sapiens_hsa052140.91567097
48Lysosome_Homo sapiens_hsa041420.89374770
49Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.88010322
50Glycosaminoglycan degradation_Homo sapiens_hsa005310.86684988
51Platelet activation_Homo sapiens_hsa046110.85645589
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.80628089
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.79929515
54Rap1 signaling pathway_Homo sapiens_hsa040150.79137997
55Fructose and mannose metabolism_Homo sapiens_hsa000510.77327203
56Viral myocarditis_Homo sapiens_hsa054160.77207504
57Thyroid cancer_Homo sapiens_hsa052160.76935731
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76821736
59Shigellosis_Homo sapiens_hsa051310.76109560
60* Melanogenesis_Homo sapiens_hsa049160.75926166
61Endometrial cancer_Homo sapiens_hsa052130.75888149
62Fat digestion and absorption_Homo sapiens_hsa049750.73344936
63Galactose metabolism_Homo sapiens_hsa000520.72451779
64HTLV-I infection_Homo sapiens_hsa051660.71658148
65Other glycan degradation_Homo sapiens_hsa005110.71506874
66Phagosome_Homo sapiens_hsa041450.71504374
67Central carbon metabolism in cancer_Homo sapiens_hsa052300.70866315
68mTOR signaling pathway_Homo sapiens_hsa041500.70552695
69* Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.69946459
70* Thyroid hormone synthesis_Homo sapiens_hsa049180.68075288
71Notch signaling pathway_Homo sapiens_hsa043300.66525304
72Glutathione metabolism_Homo sapiens_hsa004800.66348770
73Axon guidance_Homo sapiens_hsa043600.63274316
74Mineral absorption_Homo sapiens_hsa049780.62683206
75* Insulin resistance_Homo sapiens_hsa049310.61930272
76Prion diseases_Homo sapiens_hsa050200.61778507
77* TNF signaling pathway_Homo sapiens_hsa046680.61674463
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60978369
79GnRH signaling pathway_Homo sapiens_hsa049120.60702089
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.60409115
81Neurotrophin signaling pathway_Homo sapiens_hsa047220.59769842
82Caffeine metabolism_Homo sapiens_hsa002320.59305124
83* Estrogen signaling pathway_Homo sapiens_hsa049150.59233466
84Salmonella infection_Homo sapiens_hsa051320.58459151
85Renal cell carcinoma_Homo sapiens_hsa052110.58265554
86Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.57173316
87Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.57065086
88Gap junction_Homo sapiens_hsa045400.56663097
89Ovarian steroidogenesis_Homo sapiens_hsa049130.56046716
90HIF-1 signaling pathway_Homo sapiens_hsa040660.56041471
91FoxO signaling pathway_Homo sapiens_hsa040680.54283462
92* Longevity regulating pathway - mammal_Homo sapiens_hsa042110.53874029
93Apoptosis_Homo sapiens_hsa042100.53806104
94Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.52902274
95Colorectal cancer_Homo sapiens_hsa052100.52370093
96Sphingolipid metabolism_Homo sapiens_hsa006000.51617953
97Vascular smooth muscle contraction_Homo sapiens_hsa042700.51218758
98VEGF signaling pathway_Homo sapiens_hsa043700.49839135
99Ras signaling pathway_Homo sapiens_hsa040140.48818303
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48662892
101Endocytosis_Homo sapiens_hsa041440.48482091
102* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.47089188
103Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.46595334
104Salivary secretion_Homo sapiens_hsa049700.46379191
105Acute myeloid leukemia_Homo sapiens_hsa052210.46313426
106Starch and sucrose metabolism_Homo sapiens_hsa005000.44781290
107Prolactin signaling pathway_Homo sapiens_hsa049170.44739569
108Complement and coagulation cascades_Homo sapiens_hsa046100.43799727
109Lysine degradation_Homo sapiens_hsa003100.43588746
110Insulin signaling pathway_Homo sapiens_hsa049100.43082716
111Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42758204
112Carbohydrate digestion and absorption_Homo sapiens_hsa049730.42650527
113Bile secretion_Homo sapiens_hsa049760.42304565
114* AMPK signaling pathway_Homo sapiens_hsa041520.42135804
115Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.41982395
116MAPK signaling pathway_Homo sapiens_hsa040100.40509589
117* Cocaine addiction_Homo sapiens_hsa050300.38520810
118Gastric acid secretion_Homo sapiens_hsa049710.38196690
119Choline metabolism in cancer_Homo sapiens_hsa052310.36871733
120Hepatitis C_Homo sapiens_hsa051600.35617148
121Pertussis_Homo sapiens_hsa051330.34916751
122Pentose phosphate pathway_Homo sapiens_hsa000300.34484710

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