SERPINH1

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 the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)6.60070798
2* collagen fibril organization (GO:0030199)5.92612947
3chondrocyte proliferation (GO:0035988)5.52875426
4bone trabecula formation (GO:0060346)5.39961599
5endodermal cell differentiation (GO:0035987)5.03213765
6skin morphogenesis (GO:0043589)4.69725399
7sequestering of extracellular ligand from receptor (GO:0035581)4.62684279
8neuron projection extension involved in neuron projection guidance (GO:1902284)4.52204244
9axon extension involved in axon guidance (GO:0048846)4.52204244
10basement membrane organization (GO:0071711)4.44383765
11polarized epithelial cell differentiation (GO:0030859)4.28540418
12collagen catabolic process (GO:0030574)4.27822368
13protein retention in ER lumen (GO:0006621)4.22593738
14* collagen metabolic process (GO:0032963)4.17070663
15negative regulation of fatty acid transport (GO:2000192)4.04995520
16planar cell polarity pathway involved in neural tube closure (GO:0090179)3.95057502
17multicellular organismal catabolic process (GO:0044243)3.92231164
18* multicellular organismal macromolecule metabolic process (GO:0044259)3.91222092
19cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.89342629
20cell adhesion mediated by integrin (GO:0033627)3.85479152
21regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.81120967
22retina vasculature morphogenesis in camera-type eye (GO:0061299)3.78827869
23extracellular matrix disassembly (GO:0022617)3.78781397
24hippo signaling (GO:0035329)3.76783573
25positive regulation of endothelial cell apoptotic process (GO:2000353)3.75767906
26regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.74005193
27peptidyl-proline hydroxylation (GO:0019511)3.72758060
28wound healing, spreading of epidermal cells (GO:0035313)3.70248135
29endocardial cushion development (GO:0003197)3.69052870
30* multicellular organismal metabolic process (GO:0044236)3.67921316
31epithelial cell-cell adhesion (GO:0090136)3.59260617
32metanephric mesenchyme development (GO:0072075)3.59113508
33paraxial mesoderm development (GO:0048339)3.57736862
34outer ear morphogenesis (GO:0042473)3.57292392
35plasma membrane repair (GO:0001778)3.54368021
36mesenchymal-epithelial cell signaling (GO:0060638)3.54226087
37negative regulation of chondrocyte differentiation (GO:0032331)3.51932679
38vascular endothelial growth factor signaling pathway (GO:0038084)3.51701509
39G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.47680236
40protein hydroxylation (GO:0018126)3.44143463
41kidney mesenchyme development (GO:0072074)3.42481523
42convergent extension (GO:0060026)3.41634561
43craniofacial suture morphogenesis (GO:0097094)3.38156192
44positive regulation of epithelial to mesenchymal transition (GO:0010718)3.37269814
45hemidesmosome assembly (GO:0031581)3.35077463
46apoptotic cell clearance (GO:0043277)3.31442699
47notochord development (GO:0030903)3.27655080
48establishment of apical/basal cell polarity (GO:0035089)3.27238251
49insulin-like growth factor receptor signaling pathway (GO:0048009)3.24136942
50focal adhesion assembly (GO:0048041)3.23610047
51cell-substrate adherens junction assembly (GO:0007045)3.23610047
52glomerular basement membrane development (GO:0032836)3.22663351
53cellular response to vitamin (GO:0071295)3.16875996
54cell migration involved in heart development (GO:0060973)3.15264013
55endothelial cell morphogenesis (GO:0001886)3.13756526
56negative regulation of cartilage development (GO:0061037)3.12461549
57negative regulation of embryonic development (GO:0045992)3.10223911
58cochlea morphogenesis (GO:0090103)3.10051889
59regulation of tight junction assembly (GO:2000810)3.06353643
60substrate adhesion-dependent cell spreading (GO:0034446)3.05648845
61extracellular fibril organization (GO:0043206)3.05078958
62cell migration involved in sprouting angiogenesis (GO:0002042)3.05003381
63renal filtration (GO:0097205)3.04175959
64protein localization to cell surface (GO:0034394)3.03560336
65glomerular filtration (GO:0003094)3.02693954
66embryonic cranial skeleton morphogenesis (GO:0048701)3.00598551
67cellular response to vitamin D (GO:0071305)3.00171497
68dermatan sulfate biosynthetic process (GO:0030208)2.99272823
69tooth mineralization (GO:0034505)2.97127277
70non-canonical Wnt signaling pathway (GO:0035567)2.96655955
71wound healing, spreading of cells (GO:0044319)2.96480705
72type B pancreatic cell proliferation (GO:0044342)2.95316577
73negative regulation of catenin import into nucleus (GO:0035414)2.95120578
74dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.93398017
75regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.92515058
76stress fiber assembly (GO:0043149)2.92381029
77cell proliferation involved in metanephros development (GO:0072203)2.92272828
78heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.91316708
79substrate-dependent cell migration (GO:0006929)2.91146563
80trabecula formation (GO:0060343)2.90450197
81cell-substrate junction assembly (GO:0007044)2.89547136
82Golgi transport vesicle coating (GO:0048200)2.87201942
83COPI coating of Golgi vesicle (GO:0048205)2.87201942
84adherens junction assembly (GO:0034333)2.86938052
85branching involved in salivary gland morphogenesis (GO:0060445)2.82608438
86atrioventricular valve morphogenesis (GO:0003181)2.82533951
87cardiac myofibril assembly (GO:0055003)2.81960827
88* extracellular matrix organization (GO:0030198)2.80590409
89regulation of cartilage development (GO:0061035)2.80185438
90regulation of SMAD protein import into nucleus (GO:0060390)2.79804265
91* extracellular structure organization (GO:0043062)2.79408810
92extracellular matrix assembly (GO:0085029)2.79259038
93regulation of heart morphogenesis (GO:2000826)2.78549919
94vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.78082921
95cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.77900543
96positive regulation of osteoblast proliferation (GO:0033690)2.77801006
97middle ear morphogenesis (GO:0042474)2.76946430
98fibril organization (GO:0097435)2.76207275
99mesenchyme development (GO:0060485)2.75919647
100barbed-end actin filament capping (GO:0051016)2.73654500
101regulation of hippo signaling (GO:0035330)2.72462780
102regulation of gastrulation (GO:0010470)2.72400033
103establishment of monopolar cell polarity (GO:0061162)2.71461347
104establishment or maintenance of monopolar cell polarity (GO:0061339)2.71461347
105cellular response to amino acid stimulus (GO:0071230)2.71290182
106muscle cell migration (GO:0014812)2.71213579
107Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.70317583
108maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.69438101
109positive regulation of cartilage development (GO:0061036)2.69152831
110embryonic skeletal joint morphogenesis (GO:0060272)2.68736965
111negative regulation of smooth muscle cell migration (GO:0014912)2.67513787
112positive regulation of mesenchymal cell proliferation (GO:0002053)2.67057783
113positive regulation of SMAD protein import into nucleus (GO:0060391)2.66467323
114dermatan sulfate metabolic process (GO:0030205)2.65679781
115regulation of establishment of planar polarity (GO:0090175)2.62926608
116positive regulation of blood vessel endothelial cell migration (GO:0043536)2.62852047
117regulation of chondrocyte differentiation (GO:0032330)2.62438800
118semaphorin-plexin signaling pathway (GO:0071526)2.61143566
119blood vessel endothelial cell migration (GO:0043534)2.60186821
120organ induction (GO:0001759)2.60040177
121glomerular visceral epithelial cell development (GO:0072015)2.58106071
122regulation of cell fate specification (GO:0042659)2.57278807
123lymphangiogenesis (GO:0001946)2.57177569
124regulation of cardioblast differentiation (GO:0051890)2.54959348
125retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.54304818
126midgut development (GO:0007494)2.52948593
127heparan sulfate proteoglycan metabolic process (GO:0030201)2.51795175

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.03521441
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.44009750
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.72720320
4* CLOCK_20551151_ChIP-Seq_293T_Human3.46772178
5PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.41082675
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.24541590
7* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.02285103
8* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.72894077
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.58729615
10* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.49578665
11WT1_19549856_ChIP-ChIP_CCG9911_Human2.49049619
12HIF1A_21447827_ChIP-Seq_MCF-7_Human2.47748816
13WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.39235825
14* ELK3_25401928_ChIP-Seq_HUVEC_Human2.21152989
15TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.12052075
16* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.11739446
17ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.08424571
18BRD4_25478319_ChIP-Seq_HGPS_Human2.07079352
19TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.03131282
20PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.00063468
21CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.99752561
22EP300_21415370_ChIP-Seq_HL-1_Mouse1.98896723
23CJUN_26792858_Chip-Seq_BT549_Human1.97014152
24NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.94076220
25ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.89039706
26STAT6_21828071_ChIP-Seq_BEAS2B_Human1.85550617
27* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.80230121
28* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.76466825
29TP53_20018659_ChIP-ChIP_R1E_Mouse1.74665907
30RBPJ_22232070_ChIP-Seq_NCS_Mouse1.72997242
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.69101393
32HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.68936711
33FOXM1_23109430_ChIP-Seq_U2OS_Human1.67322718
34ATF3_27146783_Chip-Seq_COLON_Human1.66221794
35KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.63522485
36SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.63274062
37TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.57639991
38UBF1/2_26484160_Chip-Seq_HMECs_Human1.57021738
39SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.56603656
40SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.56603656
41TP53_22127205_ChIP-Seq_IMR90_Human1.56339395
42ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.55355328
43PPAR_26484153_Chip-Seq_NCI-H1993_Human1.51363686
44E2F7_22180533_ChIP-Seq_HELA_Human1.48386077
45TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.47505084
46DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.46746684
47ESR2_21235772_ChIP-Seq_MCF-7_Human1.46381958
48* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.45449152
49SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.45295280
50ESR1_21235772_ChIP-Seq_MCF-7_Human1.44585941
51KDM2B_26808549_Chip-Seq_SUP-B15_Human1.44505046
52SMC1_22415368_ChIP-Seq_MEFs_Mouse1.44299949
53RACK7_27058665_Chip-Seq_MCF-7_Human1.42952948
54ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.41657435
55EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.38217380
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.38124382
57* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.37454015
58* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.37302353
59* TBX20_22328084_ChIP-Seq_HEART_Mouse1.37004231
60* TBX20_22080862_ChIP-Seq_HEART_Mouse1.37004231
61CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.36407497
62ZNF263_19887448_ChIP-Seq_K562_Human1.35814277
63ERG_21242973_ChIP-ChIP_JURKAT_Human1.34207501
64MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.32428189
65* ISL1_27105846_Chip-Seq_CPCs_Mouse1.32146256
66TP53_23651856_ChIP-Seq_MEFs_Mouse1.26446198
67KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.26370238
68KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.26370238
69KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.26370238
70AR_21909140_ChIP-Seq_LNCAP_Human1.25923058
71EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.25033056
72EED_16625203_ChIP-ChIP_MESCs_Mouse1.24422149
73NFIB_24661679_ChIP-Seq_LUNG_Mouse1.23301072
74ESR1_15608294_ChIP-ChIP_MCF-7_Human1.22719367
75SOX9_24532713_ChIP-Seq_HFSC_Mouse1.22353094
76JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.20947995
77TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.20812063
78NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.20403959
79CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.19697805
80MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.18109024
81KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.17479949
82SA1_22415368_ChIP-Seq_MEFs_Mouse1.17130703
83* KDM2B_26808549_Chip-Seq_DND41_Human1.16819886
84LXR_22292898_ChIP-Seq_THP-1_Human1.15440675
85ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.14792551
86SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.14078138
87SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.13810358
88NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.13003338
89NRF2_20460467_ChIP-Seq_MEFs_Mouse1.13003338
90KDM2B_26808549_Chip-Seq_K562_Human1.12364288
91FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.12223722
92* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.11949255
93FOXO3_23340844_ChIP-Seq_DLD1_Human1.10030873
94SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.09884980
95KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09823438
96* TCF3_18692474_ChIP-Seq_MEFs_Mouse1.08479233
97PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.07278488
98MYC_18555785_ChIP-Seq_MESCs_Mouse1.06897003
99ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.06676160
100KDM2B_26808549_Chip-Seq_JURKAT_Human1.06142723
101KLF4_18555785_ChIP-Seq_MESCs_Mouse1.05911885
102* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.05452430
103RNF2_18974828_ChIP-Seq_MESCs_Mouse1.05426960
104EZH2_18974828_ChIP-Seq_MESCs_Mouse1.05426960
105KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.05320928
106NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.04992873
107TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02896578
108KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.01447367
109SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01419889
110EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.00892865
111RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.00797544
112* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00787044
113POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.00254577
114TP53_16413492_ChIP-PET_HCT116_Human0.98082766
115STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.97371508
116TP53_18474530_ChIP-ChIP_U2OS_Human0.96370179
117SOX2_20726797_ChIP-Seq_SW620_Human0.94591555
118FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.94558889

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.41630510
2MP0005275_abnormal_skin_tensile4.54629569
3MP0005503_abnormal_tendon_morphology4.41277964
4MP0003705_abnormal_hypodermis_morpholog4.09171354
5MP0003279_aneurysm3.38510356
6MP0005623_abnormal_meninges_morphology3.20947778
7* MP0004272_abnormal_basement_membrane3.02633871
8MP0006054_spinal_hemorrhage2.74887411
9MP0001958_emphysema2.72496175
10MP0010030_abnormal_orbit_morphology2.41733921
11MP0009384_cardiac_valve_regurgitation2.28292039
12MP0005257_abnormal_intraocular_pressure2.09280118
13MP0003566_abnormal_cell_adhesion2.08754346
14MP0005508_abnormal_skeleton_morphology2.03338242
15MP0003385_abnormal_body_wall2.02194855
16MP0009250_abnormal_appendicular_skeleto1.81048754
17MP0000733_abnormal_muscle_development1.75322975
18MP0009053_abnormal_anal_canal1.75222440
19MP0010352_gastrointestinal_tract_polyps1.74880030
20MP0002060_abnormal_skin_morphology1.71174103
21MP0005023_abnormal_wound_healing1.67151148
22MP0003091_abnormal_cell_migration1.58546412
23MP0003283_abnormal_digestive_organ1.56836540
24MP0002896_abnormal_bone_mineralization1.52620399
25MP0002108_abnormal_muscle_morphology1.52088046
26MP0003942_abnormal_urinary_system1.45276016
27MP0010368_abnormal_lymphatic_system1.42187447
28MP0000537_abnormal_urethra_morphology1.41883060
29MP0002254_reproductive_system_inflammat1.41426414
30MP0000767_abnormal_smooth_muscle1.41370158
31MP0001542_abnormal_bone_strength1.40696246
32MP0000013_abnormal_adipose_tissue1.39291512
33MP0000428_abnormal_craniofacial_morphol1.39088844
34MP0000534_abnormal_ureter_morphology1.38413453
35MP0002282_abnormal_trachea_morphology1.38324966
36MP0002932_abnormal_joint_morphology1.37381146
37MP0002295_abnormal_pulmonary_circulatio1.37289293
38MP0000751_myopathy1.34499965
39MP0003115_abnormal_respiratory_system1.31348550
40MP0001243_abnormal_dermal_layer1.30309936
41MP0003941_abnormal_skin_development1.24586639
42MP0005076_abnormal_cell_differentiation1.24113639
43MP0001299_abnormal_eye_distance/1.23613091
44MP0004134_abnormal_chest_morphology1.19635690
45MP0000750_abnormal_muscle_regeneration1.19150688
46MP0003122_maternal_imprinting1.17734300
47MP0000163_abnormal_cartilage_morphology1.15555942
48MP0002115_abnormal_skeleton_extremities1.15181564
49MP0004084_abnormal_cardiac_muscle1.14109383
50MP0003950_abnormal_plasma_membrane1.12714249
51MP0000462_abnormal_digestive_system1.12680141
52MP0003755_abnormal_palate_morphology1.10179690
53MP0000049_abnormal_middle_ear1.08441548
54MP0003123_paternal_imprinting1.07849711
55MP0002877_abnormal_melanocyte_morpholog1.06698765
56MP0001348_abnormal_lacrimal_gland1.04439585
57MP0003935_abnormal_craniofacial_develop1.03644594
58MP0003937_abnormal_limbs/digits/tail_de1.03298650
59MP0002249_abnormal_larynx_morphology1.00874799
60MP0002113_abnormal_skeleton_development1.00259292
61MP0005390_skeleton_phenotype0.98716929
62MP0000003_abnormal_adipose_tissue0.98210206
63MP0005197_abnormal_uvea_morphology0.98204738
64MP0005595_abnormal_vascular_smooth0.96346732
65MP0009780_abnormal_chondrocyte_physiolo0.95643992
66MP0001915_intracranial_hemorrhage0.94995314
67MP0004233_abnormal_muscle_weight0.92905588
68MP0002111_abnormal_tail_morphology0.92435626
69MP0000432_abnormal_head_morphology0.92215507
70MP0004197_abnormal_fetal_growth/weight/0.92145877
71MP0001879_abnormal_lymphatic_vessel0.90987347
72MP0002128_abnormal_blood_circulation0.90253815
73MP0002116_abnormal_craniofacial_bone0.90163531
74MP0004087_abnormal_muscle_fiber0.89880627
75MP0002697_abnormal_eye_size0.89360656
76MP0002109_abnormal_limb_morphology0.89340446
77MP0006138_congestive_heart_failure0.88700618
78MP0001614_abnormal_blood_vessel0.87639609
79MP0002233_abnormal_nose_morphology0.86753655
80MP0002089_abnormal_postnatal_growth/wei0.85975483
81MP0002925_abnormal_cardiovascular_devel0.85918795
82MP0000762_abnormal_tongue_morphology0.84760351
83MP0003567_abnormal_fetal_cardiomyocyte0.84502778
84MP0001849_ear_inflammation0.83255133
85MP0000759_abnormal_skeletal_muscle0.80929415
86MP0004185_abnormal_adipocyte_glucose0.78329115
87MP0000467_abnormal_esophagus_morphology0.77678434
88MP0002114_abnormal_axial_skeleton0.77232951
89MP0010630_abnormal_cardiac_muscle0.77232016
90MP0001661_extended_life_span0.76793565
91MP0002933_joint_inflammation0.75948158
92MP0002168_other_aberrant_phenotype0.75932475
93* MP0002085_abnormal_embryonic_tissue0.75740898
94MP0005375_adipose_tissue_phenotype0.73833478
95MP0003045_fibrosis0.73115921
96MP0005409_darkened_coat_color0.72291038
97MP0005367_renal/urinary_system_phenotyp0.72113125
98MP0000516_abnormal_urinary_system0.72113125
99MP0001175_abnormal_lung_morphology0.71059301
100MP0002998_abnormal_bone_remodeling0.70351161
101MP0009672_abnormal_birth_weight0.68805471
102MP0003119_abnormal_digestive_system0.67576000
103MP0005171_absent_coat_pigmentation0.67428625
104MP0008932_abnormal_embryonic_tissue0.67127648
105MP0002837_dystrophic_cardiac_calcinosis0.66336394
106MP0002084_abnormal_developmental_patter0.66068156
107MP0002092_abnormal_eye_morphology0.65894197
108MP0000266_abnormal_heart_morphology0.65835264
109MP0004858_abnormal_nervous_system0.64680876
110MP0000579_abnormal_nail_morphology0.64522017
111MP0002086_abnormal_extraembryonic_tissu0.63921136
112MP0002234_abnormal_pharynx_morphology0.63888447
113MP0005193_abnormal_anterior_eye0.63714782
114MP0005369_muscle_phenotype0.63367770
115MP0005501_abnormal_skin_physiology0.61921444
116MP0003984_embryonic_growth_retardation0.60966504
117MP0005380_embryogenesis_phenotype0.60054807
118MP0001672_abnormal_embryogenesis/_devel0.60054807
119MP0000566_synostosis0.59101091

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.14082021
2* Premature rupture of membranes (HP:0001788)6.82638653
3Ankle contracture (HP:0006466)4.93181902
4Aortic dissection (HP:0002647)4.72290660
5Atrophic scars (HP:0001075)4.45310892
6Peritonitis (HP:0002586)4.31140961
7Soft skin (HP:0000977)4.25908993
8* Shallow orbits (HP:0000586)4.17767006
9Cerebral aneurysm (HP:0004944)4.16130460
10Bladder diverticulum (HP:0000015)4.13161228
11Broad metatarsal (HP:0001783)4.03725981
12Fragile skin (HP:0001030)3.76771929
13Neonatal short-limb short stature (HP:0008921)3.64155665
14Dilatation of the ascending aorta (HP:0005111)3.59795284
15Type 1 muscle fiber predominance (HP:0003803)3.50671741
16Genu recurvatum (HP:0002816)3.46746951
17Mitral valve prolapse (HP:0001634)3.42270797
18Aortic aneurysm (HP:0004942)3.41671673
19Cervical subluxation (HP:0003308)3.38320896
20Wormian bones (HP:0002645)3.28802454
21Follicular hyperkeratosis (HP:0007502)3.18277387
22Spinal rigidity (HP:0003306)3.15344399
23* Abnormality of dentin (HP:0010299)3.13361834
24Biconcave vertebral bodies (HP:0004586)3.11319941
25Wrist flexion contracture (HP:0001239)3.08728784
26* Blue sclerae (HP:0000592)3.03087343
27Increased connective tissue (HP:0009025)2.98569684
28Bowel diverticulosis (HP:0005222)2.95730347
29Vertebral compression fractures (HP:0002953)2.81474859
30Deviation of the hallux (HP:0010051)2.64543081
31Short 4th metacarpal (HP:0010044)2.59598146
32Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.59598146
33Hyperextensible skin (HP:0000974)2.58877516
34Mildly elevated creatine phosphokinase (HP:0008180)2.56412493
35Hallux valgus (HP:0001822)2.55291497
36Disproportionate tall stature (HP:0001519)2.50643272
37Increased variability in muscle fiber diameter (HP:0003557)2.50501341
38Ulnar bowing (HP:0003031)2.49905839
39Elbow flexion contracture (HP:0002987)2.46883020
40Slender build (HP:0001533)2.45930000
41Buphthalmos (HP:0000557)2.40991988
42Wide anterior fontanel (HP:0000260)2.40893594
43Abnormality of the acetabulum (HP:0003170)2.39855158
44Mesomelia (HP:0003027)2.37284156
45Aneurysm (HP:0002617)2.37192488
46Infantile muscular hypotonia (HP:0008947)2.36636140
47Thin bony cortex (HP:0002753)2.35995836
48Camptodactyly of toe (HP:0001836)2.33356060
49Abnormality of the 4th metacarpal (HP:0010012)2.29325049
50Abnormality of the peritoneum (HP:0002585)2.28848277
51Hyperacusis (HP:0010780)2.25962773
52Overgrowth (HP:0001548)2.25297455
53Vascular tortuosity (HP:0004948)2.24761438
54Breech presentation (HP:0001623)2.24255256
55Ectopia lentis (HP:0001083)2.23325291
56Abnormality of skeletal muscle fiber size (HP:0012084)2.20514730
57Asymmetry of the thorax (HP:0001555)2.18489921
58Tibial bowing (HP:0002982)2.18174121
59Mitral regurgitation (HP:0001653)2.17077610
60* Joint laxity (HP:0001388)2.13980924
61Spondylolisthesis (HP:0003302)2.13634865
62Hypoventilation (HP:0002791)2.11860529
63Knee flexion contracture (HP:0006380)2.09749963
64Nonimmune hydrops fetalis (HP:0001790)2.09541865
65Radial bowing (HP:0002986)2.08554919
66Osteolytic defects of the phalanges of the hand (HP:0009771)2.06795759
67Osteolytic defects of the hand bones (HP:0009699)2.06795759
68Broad long bones (HP:0005622)2.05542035
69* Abnormal delivery (HP:0001787)2.04981013
70Round ear (HP:0100830)2.04225908
71Abnormality of the calcaneus (HP:0008364)2.03559106
72Renal duplication (HP:0000075)2.03191843
73Natal tooth (HP:0000695)2.02543331
74Bell-shaped thorax (HP:0001591)2.01596677
75Osteoarthritis (HP:0002758)2.01359720
76Femoral bowing (HP:0002980)2.00821818
77Morphological abnormality of the middle ear (HP:0008609)1.99915698
78Scapular winging (HP:0003691)1.99573403
79Coronal craniosynostosis (HP:0004440)1.97977632
80Bowing of the arm (HP:0006488)1.97497184
81Bowed forearm bones (HP:0003956)1.97497184
82Premature skin wrinkling (HP:0100678)1.97189247
83Venous abnormality (HP:0002624)1.95912149
84Arterial tortuosity (HP:0005116)1.94824208
85Turricephaly (HP:0000262)1.94172941
86Generalized amyotrophy (HP:0003700)1.90894330
87Protruding ear (HP:0000411)1.90531382
88Difficulty climbing stairs (HP:0003551)1.88793514
89Mild short stature (HP:0003502)1.88585564
90Venous insufficiency (HP:0005293)1.88552827
91Increased density of long bones (HP:0006392)1.88400861
92Hip contracture (HP:0003273)1.88395581
93Congenital glaucoma (HP:0001087)1.86960122
94* Inguinal hernia (HP:0000023)1.86037272
95Lymphangioma (HP:0100764)1.84476625
96Achilles tendon contracture (HP:0001771)1.84456532
97Flexion contracture of toe (HP:0005830)1.82926646
98Joint contractures involving the joints of the feet (HP:0100492)1.82926646
99Selective tooth agenesis (HP:0001592)1.81726422
100Trismus (HP:0000211)1.80882957
101Aortic valve stenosis (HP:0001650)1.80513261
102Spinal cord lesions (HP:0100561)1.80465735
103Syringomyelia (HP:0003396)1.80465735
104Distal upper limb amyotrophy (HP:0007149)1.80450471
105Upper limb amyotrophy (HP:0009129)1.80450471
106Delayed cranial suture closure (HP:0000270)1.80206148
107Coxa vara (HP:0002812)1.79900605
108Slender long bone (HP:0003100)1.78854439
109Arachnodactyly (HP:0001166)1.77687406
110Joint stiffness (HP:0001387)1.76297402
111Arnold-Chiari malformation (HP:0002308)1.75967587
112Short nail (HP:0001799)1.75255159
113Calcaneovalgus deformity (HP:0001848)1.74836993
114Aortic regurgitation (HP:0001659)1.74613954
115Tarsal synostosis (HP:0008368)1.74317648
116Flat cornea (HP:0007720)1.72335757
117Long toe (HP:0010511)1.72235886
118Hypoplastic ischia (HP:0003175)1.72071733
119Deformed tarsal bones (HP:0008119)1.71111533
120Renovascular hypertension (HP:0100817)1.70409889
121Limb-girdle muscle weakness (HP:0003325)1.69771529
122Back pain (HP:0003418)1.66404544
123Pterygium (HP:0001059)1.64494411

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB35.05453861
2DDR24.52689550
3TTN4.30676317
4PKN23.71671469
5PDGFRA3.56222021
6LATS13.09293328
7LATS23.06046306
8EPHB22.46655145
9SMG12.33814706
10RIPK12.17078561
11SIK12.11526416
12ERN12.06158909
13PAK21.90690937
14PTK61.83882057
15MAP3K101.83716538
16EEF2K1.77082261
17PAK41.76172982
18BMX1.69327934
19PTK21.56494044
20LRRK21.53362483
21FER1.45986702
22ILK1.39228354
23DMPK1.36765958
24ERBB41.33997674
25MET1.33516155
26FGFR11.29017550
27EPHA31.24125649
28STK31.23782741
29PAK31.22866943
30MTOR1.21334259
31TESK11.17438688
32PDGFRB1.16887891
33TGFBR21.13987381
34TRPM71.12261918
35RPS6KA41.08194923
36TGFBR11.07340670
37LIMK11.04757168
38MYLK1.04704565
39STK38L1.03204055
40PTK2B0.95963460
41ROCK10.95865551
42RPS6KA20.95006387
43MOS0.87716043
44SCYL20.87588417
45STK380.86189339
46ARAF0.84200787
47NEK90.81435654
48EPHA20.81200741
49TTK0.80804403
50KDR0.78016469
51TIE10.77374438
52TSSK60.75253657
53CDK60.74734748
54CAMK1D0.74356500
55NEK10.74124285
56FGFR20.74098283
57ICK0.73145149
58ROCK20.72740154
59PRKD30.72431271
60PIK3CA0.71457982
61FLT30.71070725
62MAP2K10.67442612
63LMTK20.65977052
64MAP3K80.65898026
65RET0.64287438
66CLK10.63764165
67PAK10.62624347
68PRKD10.59718307
69DAPK30.59225915
70FGFR40.57962678
71MAP3K60.57758721
72PRPF4B0.56900650
73CDK120.54461180
74NME20.54409002
75NTRK10.54343818
76EPHB10.52090193
77KSR20.51833570
78TYRO30.51319001
79CDC42BPA0.51158248
80INSR0.50933971
81NEK20.50737834
82CDK80.50249586
83MAP3K30.48368495
84RPS6KC10.48137491
85RPS6KL10.48137491
86DYRK1B0.47985742
87RPS6KB20.47713121
88VRK20.47701861
89TAOK20.47407855
90MAPK70.44085906
91STK100.43537896
92CAMK1G0.43448501
93PIM20.42406584
94GSK3A0.42120551
95MELK0.41497180
96MST1R0.40979697
97BRAF0.40477724
98PRKD20.39409638
99SRC0.38964235
100CDK11A0.38789933
101ERBB20.38501276
102MAP2K30.38484511
103CDK150.37929282
104PLK20.36009341
105ERBB30.35820608
106CDK90.35804686
107PIK3CG0.34646465
108PAK60.34609941
109PRKG20.34542105
110IRAK30.33776727
111ABL20.33579851
112CDK180.33259499
113AKT20.33078481
114CHEK20.31574311
115PDK30.31554397
116PDK40.31554397
117TESK20.31407525
118CDK40.31253290
119AURKB0.30058932
120PRKCH0.29677965
121PASK0.29629012
122KSR10.29267794
123MAPKAPK30.28937269
124AKT30.28759457
125CAMKK10.27158423
126MAPK10.26407794
127ADRBK10.26128377
128CDK70.25996323
129CDK140.25742620

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.78044955
2Focal adhesion_Homo sapiens_hsa045103.38993310
3Protein digestion and absorption_Homo sapiens_hsa049742.75348048
4Proteoglycans in cancer_Homo sapiens_hsa052052.51936778
5Basal cell carcinoma_Homo sapiens_hsa052172.38643272
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.37433445
7Small cell lung cancer_Homo sapiens_hsa052222.36794930
8Amoebiasis_Homo sapiens_hsa051462.35251503
9Hippo signaling pathway_Homo sapiens_hsa043902.27952633
10Adherens junction_Homo sapiens_hsa045202.26381199
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.19275951
12Bladder cancer_Homo sapiens_hsa052192.17701287
13Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.12264832
14Dilated cardiomyopathy_Homo sapiens_hsa054142.11890543
15AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.11372592
16Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.09568773
17TGF-beta signaling pathway_Homo sapiens_hsa043501.96205702
18Hedgehog signaling pathway_Homo sapiens_hsa043401.93701279
19MicroRNAs in cancer_Homo sapiens_hsa052061.89729863
20PI3K-Akt signaling pathway_Homo sapiens_hsa041511.72666234
21Chronic myeloid leukemia_Homo sapiens_hsa052201.64029522
22Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.48148975
23Tight junction_Homo sapiens_hsa045301.41699519
24Melanoma_Homo sapiens_hsa052181.40285458
25Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.39320063
26Malaria_Homo sapiens_hsa051441.38877946
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.37995977
28Viral myocarditis_Homo sapiens_hsa054161.33166842
29Regulation of actin cytoskeleton_Homo sapiens_hsa048101.31103673
30p53 signaling pathway_Homo sapiens_hsa041151.29557791
31Biosynthesis of amino acids_Homo sapiens_hsa012301.29265454
32Pathways in cancer_Homo sapiens_hsa052001.27209137
33Central carbon metabolism in cancer_Homo sapiens_hsa052301.25813273
34Leukocyte transendothelial migration_Homo sapiens_hsa046701.24232589
35Galactose metabolism_Homo sapiens_hsa000521.17496589
36Wnt signaling pathway_Homo sapiens_hsa043101.16437833
37HTLV-I infection_Homo sapiens_hsa051661.15660689
38Pentose phosphate pathway_Homo sapiens_hsa000301.13558923
39Prostate cancer_Homo sapiens_hsa052151.11787589
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.11261618
41Other glycan degradation_Homo sapiens_hsa005111.10677407
42Notch signaling pathway_Homo sapiens_hsa043301.09561640
43Glioma_Homo sapiens_hsa052141.09162002
44Axon guidance_Homo sapiens_hsa043601.08567001
45Melanogenesis_Homo sapiens_hsa049161.06403212
46Pancreatic cancer_Homo sapiens_hsa052121.05726071
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.03151798
48Rap1 signaling pathway_Homo sapiens_hsa040151.02882303
49Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.98954190
50Platelet activation_Homo sapiens_hsa046110.98805584
51Toxoplasmosis_Homo sapiens_hsa051450.97608083
52Colorectal cancer_Homo sapiens_hsa052100.91065506
53HIF-1 signaling pathway_Homo sapiens_hsa040660.88892341
54mTOR signaling pathway_Homo sapiens_hsa041500.88552340
55Renal cell carcinoma_Homo sapiens_hsa052110.88167506
56Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.87926661
57Viral carcinogenesis_Homo sapiens_hsa052030.86488466
58Shigellosis_Homo sapiens_hsa051310.84586974
59Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.84389752
60Cell cycle_Homo sapiens_hsa041100.83872658
61Endometrial cancer_Homo sapiens_hsa052130.83870671
62Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.83195852
63Estrogen signaling pathway_Homo sapiens_hsa049150.76534942
64Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.76385455
65Vibrio cholerae infection_Homo sapiens_hsa051100.75439491
66AMPK signaling pathway_Homo sapiens_hsa041520.75346185
67Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.73173437
68Insulin resistance_Homo sapiens_hsa049310.72087688
69Lysine degradation_Homo sapiens_hsa003100.71527888
70Longevity regulating pathway - mammal_Homo sapiens_hsa042110.71235030
71Gap junction_Homo sapiens_hsa045400.69339837
72Thyroid cancer_Homo sapiens_hsa052160.66358160
73Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64830000
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64405822
75Carbon metabolism_Homo sapiens_hsa012000.62821417
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62723812
77Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.62623060
78TNF signaling pathway_Homo sapiens_hsa046680.62050714
79Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.61652062
80VEGF signaling pathway_Homo sapiens_hsa043700.61585302
81Fructose and mannose metabolism_Homo sapiens_hsa000510.60847491
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.60568021
83Cyanoamino acid metabolism_Homo sapiens_hsa004600.59826939
84Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.57945079
85N-Glycan biosynthesis_Homo sapiens_hsa005100.57351927
86Insulin signaling pathway_Homo sapiens_hsa049100.56198261
87Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.55350489
88Hepatitis B_Homo sapiens_hsa051610.55151026
89Non-small cell lung cancer_Homo sapiens_hsa052230.54133501
90Apoptosis_Homo sapiens_hsa042100.53840569
91Sulfur relay system_Homo sapiens_hsa041220.53358744
92cGMP-PKG signaling pathway_Homo sapiens_hsa040220.52993983
932-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.52568687
94FoxO signaling pathway_Homo sapiens_hsa040680.51363339
95Adipocytokine signaling pathway_Homo sapiens_hsa049200.50387830
96ErbB signaling pathway_Homo sapiens_hsa040120.48833412
97Salmonella infection_Homo sapiens_hsa051320.48571058
98Endocytosis_Homo sapiens_hsa041440.47998135
99Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.45710751
100Ovarian steroidogenesis_Homo sapiens_hsa049130.45664514
101Thyroid hormone synthesis_Homo sapiens_hsa049180.44974088
102Phospholipase D signaling pathway_Homo sapiens_hsa040720.44142493
103Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.43477539
104Prion diseases_Homo sapiens_hsa050200.43247487
105Phagosome_Homo sapiens_hsa041450.42872968
106Vascular smooth muscle contraction_Homo sapiens_hsa042700.42495483
107Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41525840
108Ras signaling pathway_Homo sapiens_hsa040140.41180157
109Renin-angiotensin system_Homo sapiens_hsa046140.40509422
110One carbon pool by folate_Homo sapiens_hsa006700.40221389
111Glucagon signaling pathway_Homo sapiens_hsa049220.39247480
112GnRH signaling pathway_Homo sapiens_hsa049120.36536060
113Glutathione metabolism_Homo sapiens_hsa004800.36514802
114Complement and coagulation cascades_Homo sapiens_hsa046100.34950204
115Transcriptional misregulation in cancer_Homo sapiens_hsa052020.34650766
116Steroid biosynthesis_Homo sapiens_hsa001000.34374855
117Selenocompound metabolism_Homo sapiens_hsa004500.33205569
118Glycosaminoglycan degradation_Homo sapiens_hsa005310.33122310
119Vitamin B6 metabolism_Homo sapiens_hsa007500.29595579
120MAPK signaling pathway_Homo sapiens_hsa040100.29343926

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