STS

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 multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1uterus development (GO:0060065)4.39477683
2Golgi transport vesicle coating (GO:0048200)3.95764167
3COPI coating of Golgi vesicle (GO:0048205)3.95764167
4vagina development (GO:0060068)3.94406831
5protein localization to endosome (GO:0036010)3.92184598
6cytoskeletal anchoring at plasma membrane (GO:0007016)3.76838062
7negative regulation of fatty acid transport (GO:2000192)3.36876262
8iron ion import (GO:0097286)3.29745193
9apoptotic cell clearance (GO:0043277)3.15661665
10endocrine hormone secretion (GO:0060986)3.15086829
11surfactant homeostasis (GO:0043129)3.13794921
12regulation of early endosome to late endosome transport (GO:2000641)3.07264010
13female genitalia development (GO:0030540)3.05633530
14low-density lipoprotein particle clearance (GO:0034383)3.05495033
15extracellular negative regulation of signal transduction (GO:1900116)3.05185445
16extracellular regulation of signal transduction (GO:1900115)3.05185445
17sodium ion export (GO:0071436)3.03553395
18regulation of steroid hormone biosynthetic process (GO:0090030)3.03235961
19wound healing, spreading of epidermal cells (GO:0035313)3.01053437
20keratan sulfate catabolic process (GO:0042340)2.97450248
21regulation of integrin-mediated signaling pathway (GO:2001044)2.92549021
22insulin-like growth factor receptor signaling pathway (GO:0048009)2.92131611
23regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.91535512
24regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.88105408
25negative regulation of homotypic cell-cell adhesion (GO:0034111)2.87477933
26vesicle coating (GO:0006901)2.83297831
27skin morphogenesis (GO:0043589)2.82972874
28negative regulation of protein localization to plasma membrane (GO:1903077)2.82210483
29synaptic vesicle docking involved in exocytosis (GO:0016081)2.81727588
30focal adhesion assembly (GO:0048041)2.78350691
31cell-substrate adherens junction assembly (GO:0007045)2.78350691
32desmosome organization (GO:0002934)2.75815349
33* female pregnancy (GO:0007565)2.75598201
34adherens junction assembly (GO:0034333)2.73976649
35regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.73206271
36estrogen biosynthetic process (GO:0006703)2.73117130
37positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.70938879
38positive regulation of receptor recycling (GO:0001921)2.69155139
39membrane raft organization (GO:0031579)2.65824758
40retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.64436975
41striated muscle atrophy (GO:0014891)2.64319257
42positive regulation of cellular response to insulin stimulus (GO:1900078)2.64249718
43clathrin coat assembly (GO:0048268)2.63055022
44positive regulation of insulin receptor signaling pathway (GO:0046628)2.62217484
45barbed-end actin filament capping (GO:0051016)2.61541633
46basement membrane organization (GO:0071711)2.60221353
47sequestering of extracellular ligand from receptor (GO:0035581)2.58657510
48sphingosine metabolic process (GO:0006670)2.58084726
49cell-substrate junction assembly (GO:0007044)2.57104578
50vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.55151798
51triglyceride catabolic process (GO:0019433)2.53178969
52chondrocyte development (GO:0002063)2.52716855
53collagen fibril organization (GO:0030199)2.52245822
54intestinal epithelial cell development (GO:0060576)2.51100495
55type B pancreatic cell proliferation (GO:0044342)2.50078914
56parturition (GO:0007567)2.49702189
57chemical homeostasis within a tissue (GO:0048875)2.49260563
58protein heterotrimerization (GO:0070208)2.47369648
59maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.46817343
60bone trabecula formation (GO:0060346)2.44812032
61vascular endothelial growth factor signaling pathway (GO:0038084)2.44566769
62regulation of hormone biosynthetic process (GO:0046885)2.43147419
63peptidyl-proline hydroxylation (GO:0019511)2.42653604
64positive regulation of nitric-oxide synthase activity (GO:0051000)2.42102517
65epithelial cell-cell adhesion (GO:0090136)2.40502963
66neutral lipid catabolic process (GO:0046461)2.40227152
67acylglycerol catabolic process (GO:0046464)2.40227152
68cell adhesion mediated by integrin (GO:0033627)2.40023632
69skeletal muscle adaptation (GO:0043501)2.39811217
70glomerular basement membrane development (GO:0032836)2.37664147
71positive regulation of endothelial cell apoptotic process (GO:2000353)2.37292456
72positive regulation of blood vessel endothelial cell migration (GO:0043536)2.36680224
73ear development (GO:0043583)2.35457231
74negative regulation of cell-matrix adhesion (GO:0001953)2.34551011
75protein retention in ER lumen (GO:0006621)2.32300050
76cellular potassium ion homeostasis (GO:0030007)2.31943133
77sphingoid metabolic process (GO:0046519)2.31886076
78mammary gland epithelial cell proliferation (GO:0033598)2.31703222
79wound healing, spreading of cells (GO:0044319)2.30227920
80regulation of gonadotropin secretion (GO:0032276)2.29450376
81regulation of transforming growth factor beta2 production (GO:0032909)2.28681902
82import into cell (GO:0098657)2.28674839
83mating behavior (GO:0007617)2.26387568
84protein hydroxylation (GO:0018126)2.24968646
85protein targeting to plasma membrane (GO:0072661)2.24300655
86branching involved in mammary gland duct morphogenesis (GO:0060444)2.23987180
87regulation of cAMP-dependent protein kinase activity (GO:2000479)2.23794342
884-hydroxyproline metabolic process (GO:0019471)2.23769081
89positive regulation of macrophage cytokine production (GO:0060907)2.23056099
90ovulation cycle (GO:0042698)2.23033086
91diol metabolic process (GO:0034311)2.22988830
92positive regulation of fibroblast migration (GO:0010763)2.21784624
93COPII vesicle coating (GO:0048208)2.20638732
94cellular copper ion homeostasis (GO:0006878)2.20075094
95regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.19895378
96regulation of clathrin-mediated endocytosis (GO:2000369)2.19541743
97prostate gland growth (GO:0060736)2.19223301
98positive regulation of endothelial cell migration (GO:0010595)2.19114591
99cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.18488499
100glomerular visceral epithelial cell development (GO:0072015)2.18067079

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human3.74129434
2ESR2_21235772_ChIP-Seq_MCF-7_Human3.46596301
3ESR1_20079471_ChIP-ChIP_T-47D_Human3.04122364
4NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.03563022
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.03001019
6TP63_17297297_ChIP-ChIP_HaCaT_Human2.94682046
7ZNF217_24962896_ChIP-Seq_MCF-7_Human2.62283765
8ESR1_21235772_ChIP-Seq_MCF-7_Human2.61048241
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.58067195
10TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.56552760
11PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.49094777
12MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.40425403
13CLOCK_20551151_ChIP-Seq_293T_Human2.33389120
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.11816336
15ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.09250509
16AHR_22903824_ChIP-Seq_MCF-7_Human2.07035553
17PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.05904788
18PPAR_26484153_Chip-Seq_NCI-H1993_Human2.03266272
19CDX2_19796622_ChIP-Seq_MESCs_Mouse1.94590638
20CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.89425011
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.85988455
22HIF1A_21447827_ChIP-Seq_MCF-7_Human1.80806979
23ZNF263_19887448_ChIP-Seq_K562_Human1.80794186
24WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.74357656
25RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.72369009
26SOX9_24532713_ChIP-Seq_HFSC_Mouse1.69402852
27SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.69358375
28TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.68870089
29SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.68422943
30KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.68070321
31AR_21909140_ChIP-Seq_LNCAP_Human1.67829249
32GATA2_21666600_ChIP-Seq_HMVEC_Human1.65490226
33GATA1_22025678_ChIP-Seq_K562_Human1.64239979
34TBX20_22080862_ChIP-Seq_HEART_Mouse1.62193250
35TBX20_22328084_ChIP-Seq_HEART_Mouse1.62193250
36ARNT_22903824_ChIP-Seq_MCF-7_Human1.56530014
37SMAD_19615063_ChIP-ChIP_OVARY_Human1.52180414
38ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.49487269
39EGR1_19374776_ChIP-ChIP_THP-1_Human1.49334880
40NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.48348801
41Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.47914935
42SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.46557693
43SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.46557693
44RACK7_27058665_Chip-Seq_MCF-7_Human1.46431092
45ESR1_15608294_ChIP-ChIP_MCF-7_Human1.45999072
46EP300_21415370_ChIP-Seq_HL-1_Mouse1.43542909
47CTNNB1_20460455_ChIP-Seq_HCT116_Human1.35249599
48TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.33182712
49BRD4_25478319_ChIP-Seq_HGPS_Human1.33017414
50* SOX2_20726797_ChIP-Seq_SW620_Human1.31729137
51GATA3_24758297_ChIP-Seq_MCF-7_Human1.27964483
52KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.26432496
53CJUN_26792858_Chip-Seq_BT549_Human1.25604747
54ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.24587717
55PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.23389831
56SALL4_18804426_ChIP-ChIP_XEN_Mouse1.23281371
57RXR_22158963_ChIP-Seq_LIVER_Mouse1.23246561
58FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.22743893
59P300_27058665_Chip-Seq_ZR-75-30cells_Human1.21998078
60FOXO3_23340844_ChIP-Seq_DLD1_Human1.20873833
61DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.17069599
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.16283517
63RUNX1_27514584_Chip-Seq_MCF-7_Human1.16156773
64CDX2_20551321_ChIP-Seq_CACO-2_Human1.15830875
65P63_26484246_Chip-Seq_KERATINOCYTES_Human1.13956379
66KDM2B_26808549_Chip-Seq_K562_Human1.13598996
67EZH2_18974828_ChIP-Seq_MESCs_Mouse1.13318911
68RNF2_18974828_ChIP-Seq_MESCs_Mouse1.13318911
69TP53_18474530_ChIP-ChIP_U2OS_Human1.13101778
70NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.12985977
71LXR_22158963_ChIP-Seq_LIVER_Mouse1.12777311
72SOX2_27498859_Chip-Seq_STOMACH_Mouse1.12651518
73SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.10892873
74FOXA2_19822575_ChIP-Seq_HepG2_Human1.10826624
75VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08935600
76ELK3_25401928_ChIP-Seq_HUVEC_Human1.08880287
77SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.08279811
78ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.07886617
79KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07466450
80BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.07156892
81SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.06359870
82FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.05649279
83NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.05145142
84NRF2_20460467_ChIP-Seq_MEFs_Mouse1.05145142
85EGR1_19032775_ChIP-ChIP_M12_Human1.05119287
86FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02992097
87EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.02201187
88MTF2_20144788_ChIP-Seq_MESCs_Mouse1.02062599
89CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.00055750
90LXR_22292898_ChIP-Seq_THP-1_Human0.98537810
91EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97469396
92NR3C1_23031785_ChIP-Seq_PC12_Mouse0.97178952
93NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97053241
94TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.96963767
95TP53_16413492_ChIP-PET_HCT116_Human0.95111712
96TET1_21490601_ChIP-Seq_MESCs_Mouse0.93205171
97RXR_22108803_ChIP-Seq_LS180_Human0.92776460
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.92303105
99WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91791790
100UBF1/2_26484160_Chip-Seq_HMECs_Human0.91126976

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.32567451
2MP0009780_abnormal_chondrocyte_physiolo4.28674015
3MP0003705_abnormal_hypodermis_morpholog4.27682620
4MP0005503_abnormal_tendon_morphology3.64271744
5MP0005275_abnormal_skin_tensile3.37072299
6MP0010234_abnormal_vibrissa_follicle3.17294507
7MP0004782_abnormal_surfactant_physiolog2.78720406
8MP0001958_emphysema2.55874100
9MP0010386_abnormal_urinary_bladder2.43990476
10MP0003191_abnormal_cellular_cholesterol2.42343209
11MP0003941_abnormal_skin_development2.26356901
12MP0005257_abnormal_intraocular_pressure2.23074498
13MP0004264_abnormal_extraembryonic_tissu2.19639811
14MP0002877_abnormal_melanocyte_morpholog2.13318681
15MP0003566_abnormal_cell_adhesion2.13229879
16MP0002876_abnormal_thyroid_physiology2.08519334
17MP0004272_abnormal_basement_membrane2.07485138
18MP0002796_impaired_skin_barrier1.93585002
19MP0003950_abnormal_plasma_membrane1.89537818
20MP0000751_myopathy1.80967211
21MP0005646_abnormal_pituitary_gland1.80137601
22MP0003183_abnormal_peptide_metabolism1.77814807
23MP0000003_abnormal_adipose_tissue1.77310683
24MP0003279_aneurysm1.77066435
25MP0002971_abnormal_brown_adipose1.71511495
26MP0002896_abnormal_bone_mineralization1.68397573
27MP0003091_abnormal_cell_migration1.61424036
28MP0005666_abnormal_adipose_tissue1.58072096
29MP0005375_adipose_tissue_phenotype1.58034728
30MP0010352_gastrointestinal_tract_polyps1.57391655
31MP0005023_abnormal_wound_healing1.50362404
32MP0005670_abnormal_white_adipose1.44534704
33MP0003879_abnormal_hair_cell1.39394111
34MP0005623_abnormal_meninges_morphology1.39245096
35MP0009115_abnormal_fat_cell1.38481002
36MP0002108_abnormal_muscle_morphology1.36816056
37MP0000767_abnormal_smooth_muscle1.33399855
38MP0004185_abnormal_adipocyte_glucose1.31553687
39MP0000681_abnormal_thyroid_gland1.31404296
40MP0001542_abnormal_bone_strength1.31111361
41MP0003959_abnormal_lean_body1.30961970
42MP0002060_abnormal_skin_morphology1.27356843
43MP0006138_congestive_heart_failure1.27157633
44MP0003868_abnormal_feces_composition1.25107622
45MP0000627_abnormal_mammary_gland1.25006111
46MP0005076_abnormal_cell_differentiation1.24874862
47MP0004233_abnormal_muscle_weight1.22677215
48MP0004130_abnormal_muscle_cell1.22670881
49MP0005058_abnormal_lysosome_morphology1.20980874
50MP0004484_altered_response_of1.19236064
51MP0002998_abnormal_bone_remodeling1.12859941
52MP0006054_spinal_hemorrhage1.11330062
53MP0003828_pulmonary_edema1.09671216
54MP0000013_abnormal_adipose_tissue1.09014031
55MP0010678_abnormal_skin_adnexa1.06295756
56MP0000747_muscle_weakness1.05920405
57MP0003453_abnormal_keratinocyte_physiol1.04901034
58MP0005647_abnormal_sex_gland1.00586050
59MP0002295_abnormal_pulmonary_circulatio0.99735607
60MP0001348_abnormal_lacrimal_gland0.99542728
61MP0005409_darkened_coat_color0.99372885
62MP0000759_abnormal_skeletal_muscle0.97835521
63MP0004087_abnormal_muscle_fiber0.97484738
64MP0009384_cardiac_valve_regurgitation0.96506078
65MP0003329_amyloid_beta_deposits0.95448310
66MP0001727_abnormal_embryo_implantation0.94875007
67MP0004859_abnormal_synaptic_plasticity0.94638308
68MP0004858_abnormal_nervous_system0.93765102
69MP0003045_fibrosis0.90812921
70MP0005165_increased_susceptibility_to0.90808919
71MP0005164_abnormal_response_to0.87365091
72MP0008004_abnormal_stomach_pH0.87167180
73MP0002098_abnormal_vibrissa_morphology0.85783540
74MP0002168_other_aberrant_phenotype0.85687376
75MP0005451_abnormal_body_composition0.84600837
76MP0008874_decreased_physiological_sensi0.84054333
77MP0010368_abnormal_lymphatic_system0.78802034
78MP0001849_ear_inflammation0.78179836
79MP0005388_respiratory_system_phenotype0.77678612
80MP0002133_abnormal_respiratory_system0.77678612
81MP0005508_abnormal_skeleton_morphology0.77395786
82MP0005501_abnormal_skin_physiology0.75791392
83MP0003936_abnormal_reproductive_system0.75447217
84MP0000343_altered_response_to0.75062945
85MP0010771_integument_phenotype0.74218504
86MP0001177_atelectasis0.71561006
87MP0000427_abnormal_hair_cycle0.69146811
88MP0001881_abnormal_mammary_gland0.67610076
89MP0003690_abnormal_glial_cell0.67179215
90MP0002970_abnormal_white_adipose0.63653804
91MP0002269_muscular_atrophy0.63423938
92MP0001968_abnormal_touch/_nociception0.63305364
93MP0002736_abnormal_nociception_after0.62671574
94MP0001440_abnormal_grooming_behavior0.61009010
95MP0005408_hypopigmentation0.58819911
96MP0000733_abnormal_muscle_development0.58705990
97MP0000604_amyloidosis0.58615815
98MP0004036_abnormal_muscle_relaxation0.58275014
99MP0000163_abnormal_cartilage_morphology0.56251262
100MP0001879_abnormal_lymphatic_vessel0.56191217

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)5.42540128
2Premature rupture of membranes (HP:0001788)4.57895090
3Vascular tortuosity (HP:0004948)4.30652484
4Arterial tortuosity (HP:0005116)4.10214112
5Osteolytic defects of the phalanges of the hand (HP:0009771)3.54327306
6Osteolytic defects of the hand bones (HP:0009699)3.54327306
7Aortic aneurysm (HP:0004942)3.39695575
8Wormian bones (HP:0002645)3.24372375
9Cervical subluxation (HP:0003308)3.21288122
10Vertebral compression fractures (HP:0002953)3.04671049
11Aortic dissection (HP:0002647)3.04568332
12Asymmetric septal hypertrophy (HP:0001670)2.88028211
13Ankle contracture (HP:0006466)2.87260321
14Asymmetry of the thorax (HP:0001555)2.75709124
15Cerebral aneurysm (HP:0004944)2.63735678
16Macroorchidism (HP:0000053)2.62146008
17Increased variability in muscle fiber diameter (HP:0003557)2.54443437
18Spondylolisthesis (HP:0003302)2.52898125
19Bundle branch block (HP:0011710)2.50461031
20Increased connective tissue (HP:0009025)2.48229797
21Absent frontal sinuses (HP:0002688)2.47433151
22Urinary glycosaminoglycan excretion (HP:0003541)2.47174025
23Mucopolysacchariduria (HP:0008155)2.47174025
24Blue sclerae (HP:0000592)2.45476280
25Spinal rigidity (HP:0003306)2.45059276
26Abnormality of glycolipid metabolism (HP:0010969)2.43546384
27Abnormality of liposaccharide metabolism (HP:0010968)2.43546384
28Abnormality of glycosphingolipid metabolism (HP:0004343)2.43546384
29Overgrowth (HP:0001548)2.41517981
30Dilatation of the ascending aorta (HP:0005111)2.32401290
31Bladder diverticulum (HP:0000015)2.32197877
32Cardiovascular calcification (HP:0011915)2.30564948
33Broad metatarsal (HP:0001783)2.27355888
34Mitral stenosis (HP:0001718)2.27124999
35Abnormality of glycosaminoglycan metabolism (HP:0004371)2.26134146
36Abnormality of mucopolysaccharide metabolism (HP:0011020)2.26134146
37Abnormality of polysaccharide metabolism (HP:0011012)2.26134146
38Follicular hyperkeratosis (HP:0007502)2.25837309
39Hypoplasia of the iris (HP:0007676)2.23772056
40Soft skin (HP:0000977)2.23361217
41Flared iliac wings (HP:0002869)2.23151935
42Abnormality of the frontal sinuses (HP:0002687)2.22150351
43Enlarged penis (HP:0000040)2.21767939
44Abnormality of skeletal muscle fiber size (HP:0012084)2.20110673
45Dysostosis multiplex (HP:0000943)2.19836441
46Termporal pattern (HP:0011008)2.19402527
47Insidious onset (HP:0003587)2.19402527
48Aneurysm (HP:0002617)2.19396533
49Hyporeflexia of lower limbs (HP:0002600)2.18454976
50Type 1 muscle fiber predominance (HP:0003803)2.18328855
51J-shaped sella turcica (HP:0002680)2.17364448
52Thin bony cortex (HP:0002753)2.07816160
53Striae distensae (HP:0001065)2.04387205
54Cerebral inclusion bodies (HP:0100314)2.03812535
55Ovoid vertebral bodies (HP:0003300)1.99618987
56Fragile skin (HP:0001030)1.98145039
57Abnormality of the acetabulum (HP:0003170)1.98117597
58Atrioventricular block (HP:0001678)1.97345802
59Mitral valve prolapse (HP:0001634)1.96487059
60Spinal cord compression (HP:0002176)1.96478247
61Mildly elevated creatine phosphokinase (HP:0008180)1.92566113
62Distal lower limb amyotrophy (HP:0008944)1.91464033
63Atrophic scars (HP:0001075)1.90551954
64Back pain (HP:0003418)1.89592017
65Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.89230123
66Shallow orbits (HP:0000586)1.88660278
67Abnormality of monocarboxylic acid metabolism (HP:0010996)1.88413279
68Action tremor (HP:0002345)1.88404648
69Hypercortisolism (HP:0001578)1.86998524
70Persistence of primary teeth (HP:0006335)1.86870295
71Abnormality of proline metabolism (HP:0010907)1.86349987
72Hydroxyprolinuria (HP:0003080)1.86349987
73Ulnar deviation of the wrist (HP:0003049)1.83743252
74Mitral regurgitation (HP:0001653)1.83093651
75Hyperextensible skin (HP:0000974)1.83055701
76Elbow flexion contracture (HP:0002987)1.82485387
77Neurofibrillary tangles (HP:0002185)1.81277460
78Vascular calcification (HP:0004934)1.79463259
79Flat acetabular roof (HP:0003180)1.77379939
80Right ventricular cardiomyopathy (HP:0011663)1.76461645
81Abnormal atrioventricular conduction (HP:0005150)1.76182486
82Joint laxity (HP:0001388)1.75545759
83Craniofacial hyperostosis (HP:0004493)1.73994225
84Joint stiffness (HP:0001387)1.71786272
85Aortic valve stenosis (HP:0001650)1.71523346
86Dysmetric saccades (HP:0000641)1.71315307
87Short nail (HP:0001799)1.70418517
88Distal lower limb muscle weakness (HP:0009053)1.70132228
89Microglossia (HP:0000171)1.69260760
90Disproportionate tall stature (HP:0001519)1.69153799
91Sparse lateral eyebrow (HP:0005338)1.69045868
92Delayed closure of the anterior fontanelle (HP:0001476)1.68999607
93Spinal cord lesions (HP:0100561)1.67890193
94Syringomyelia (HP:0003396)1.67890193
95Abnormality of the distal phalanges of the toes (HP:0010182)1.67625085
96Lower limb amyotrophy (HP:0007210)1.66533771
97Neonatal hypoglycemia (HP:0001998)1.63836232
98Aortic regurgitation (HP:0001659)1.63570285
99Glucose intolerance (HP:0000833)1.61484851
100Achilles tendon contracture (HP:0001771)1.60438728

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB33.80108107
2ERN13.50995280
3LATS23.32591354
4PDGFRA2.90130116
5NEK92.66412304
6RIPK12.42510492
7LATS12.36769008
8MAP3K92.28123980
9MAP3K122.11178010
10MST1R2.09644807
11PKN22.09296923
12SCYL22.03420992
13MYLK1.99207997
14EEF2K1.94857561
15PAK21.87207225
16PRPF4B1.73926522
17TESK11.70201570
18EPHA21.66981931
19STK391.66239416
20ICK1.63178475
21STK381.58447587
22TRPM71.52888675
23DDR21.51768979
24MAP3K131.46720293
25ARAF1.40534217
26TGFBR21.37048508
27FGFR41.34580000
28SIK11.31097745
29PAK41.30448377
30MOS1.20283665
31PDPK11.17685577
32PTK21.16965145
33IRAK31.16918729
34STK38L1.16735190
35PIK3CA1.12085813
36PDGFRB1.10612923
37MAPKAPK31.10348746
38KSR21.09367998
39MET1.08089897
40GRK51.05291616
41PDK21.01610161
42NEK60.89388729
43OXSR10.89015015
44AKT20.87305326
45MAP2K10.86805536
46RPS6KA20.84925506
47LIMK10.84518216
48AKT30.81384901
49LRRK20.80694011
50NTRK10.80290685
51CDK120.78729672
52MAPK120.77592345
53MAPK110.76828158
54CDC42BPA0.75779126
55PDK10.74611243
56CDK60.74456040
57PAK60.74410239
58MAP3K20.70917169
59JAK10.70601080
60MTOR0.68914677
61PRKD20.68741688
62PRKCH0.68333126
63RET0.67362857
64TTN0.66715544
65DAPK20.64406083
66ROCK20.61038368
67ILK0.60902690
68SMG10.60352712
69BRAF0.59717806
70DMPK0.56846070
71PRKD10.56404750
72SIK30.55496197
73FER0.54709033
74DAPK30.53674142
75PTK60.51891185
76MELK0.50991660
77DAPK10.50025578
78PRKCI0.49912099
79MAP3K60.49190340
80BMPR20.47932808
81MARK20.47711917
82MST40.45714452
83TYRO30.45704687
84RIPK40.45321669
85FGFR30.44049281
86MAP3K70.43154784
87PRKG20.41672820
88PRKAA20.41178530
89MAP3K30.40210005
90MAPK40.39792644
91MAP2K30.38921865
92MAPK70.38336528
93RPS6KB10.36965597
94ADRBK10.35534340
95RPS6KB20.34013191
96CDK180.32599356
97SGK30.32490731
98EIF2AK30.32437467
99ABL10.31517337
100CDK150.31421533

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan degradation_Homo sapiens_hsa005312.22066069
2Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.10685235
3ECM-receptor interaction_Homo sapiens_hsa045122.01240998
4Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.77710591
5Focal adhesion_Homo sapiens_hsa045101.69999117
6Ovarian steroidogenesis_Homo sapiens_hsa049131.68124166
7Prolactin signaling pathway_Homo sapiens_hsa049171.58357437
8Other glycan degradation_Homo sapiens_hsa005111.54000436
9Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.53521169
10Estrogen signaling pathway_Homo sapiens_hsa049151.49013601
11Proteoglycans in cancer_Homo sapiens_hsa052051.48559044
12Pentose phosphate pathway_Homo sapiens_hsa000301.45347952
13Renal cell carcinoma_Homo sapiens_hsa052111.41350806
14Long-term potentiation_Homo sapiens_hsa047201.40071931
15Thyroid cancer_Homo sapiens_hsa052161.32687917
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.31493517
17Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.25384144
18Lysosome_Homo sapiens_hsa041421.22410701
19Glioma_Homo sapiens_hsa052141.22342796
20Thyroid hormone signaling pathway_Homo sapiens_hsa049191.21309416
21Chronic myeloid leukemia_Homo sapiens_hsa052201.20066796
22Endometrial cancer_Homo sapiens_hsa052131.18628072
23Adherens junction_Homo sapiens_hsa045201.17836713
24Central carbon metabolism in cancer_Homo sapiens_hsa052301.13495642
25Amoebiasis_Homo sapiens_hsa051461.13102978
26AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.11815086
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.11180624
28Vibrio cholerae infection_Homo sapiens_hsa051101.10002064
29AMPK signaling pathway_Homo sapiens_hsa041521.08854084
30Phenylalanine metabolism_Homo sapiens_hsa003601.07781582
31Thyroid hormone synthesis_Homo sapiens_hsa049181.06935191
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05941631
33Synaptic vesicle cycle_Homo sapiens_hsa047211.05036037
34GnRH signaling pathway_Homo sapiens_hsa049121.04826932
35Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.03484197
36Dorso-ventral axis formation_Homo sapiens_hsa043201.02581581
37Small cell lung cancer_Homo sapiens_hsa052221.00936745
38Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.00754610
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00309576
40PPAR signaling pathway_Homo sapiens_hsa033200.98094580
41Insulin signaling pathway_Homo sapiens_hsa049100.98057337
42Longevity regulating pathway - mammal_Homo sapiens_hsa042110.96956238
43Salivary secretion_Homo sapiens_hsa049700.96429583
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.94893684
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.94643226
46Galactose metabolism_Homo sapiens_hsa000520.94576864
47Pancreatic cancer_Homo sapiens_hsa052120.92254018
48Leukocyte transendothelial migration_Homo sapiens_hsa046700.90448045
49Dilated cardiomyopathy_Homo sapiens_hsa054140.90385952
50Prostate cancer_Homo sapiens_hsa052150.88548981
51ErbB signaling pathway_Homo sapiens_hsa040120.88082964
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.87982691
53Non-small cell lung cancer_Homo sapiens_hsa052230.87754387
54Regulation of actin cytoskeleton_Homo sapiens_hsa048100.87266482
55Endocytosis_Homo sapiens_hsa041440.87265673
56Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.87190874
57Glucagon signaling pathway_Homo sapiens_hsa049220.85587203
58Sphingolipid metabolism_Homo sapiens_hsa006000.85321757
59Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.84822198
60Adipocytokine signaling pathway_Homo sapiens_hsa049200.84494150
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.83119644
62Sphingolipid signaling pathway_Homo sapiens_hsa040710.82665825
63Gap junction_Homo sapiens_hsa045400.81981990
64Melanogenesis_Homo sapiens_hsa049160.80013869
65Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.79637456
66PI3K-Akt signaling pathway_Homo sapiens_hsa041510.78716137
67Prion diseases_Homo sapiens_hsa050200.76890889
68Neurotrophin signaling pathway_Homo sapiens_hsa047220.75958786
69Acute myeloid leukemia_Homo sapiens_hsa052210.75830825
70Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.75801304
71mTOR signaling pathway_Homo sapiens_hsa041500.75796721
72Gastric acid secretion_Homo sapiens_hsa049710.75703807
73Bladder cancer_Homo sapiens_hsa052190.75641634
74HIF-1 signaling pathway_Homo sapiens_hsa040660.75536734
75VEGF signaling pathway_Homo sapiens_hsa043700.74699800
76Insulin resistance_Homo sapiens_hsa049310.74343552
77Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.73897456
78Melanoma_Homo sapiens_hsa052180.73844274
79Inositol phosphate metabolism_Homo sapiens_hsa005620.73804558
80Choline metabolism in cancer_Homo sapiens_hsa052310.70950781
81Mineral absorption_Homo sapiens_hsa049780.70874424
82B cell receptor signaling pathway_Homo sapiens_hsa046620.69981868
83Renin-angiotensin system_Homo sapiens_hsa046140.69534745
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.69433880
85Fructose and mannose metabolism_Homo sapiens_hsa000510.68998728
86Histidine metabolism_Homo sapiens_hsa003400.68940609
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.68786312
88Protein digestion and absorption_Homo sapiens_hsa049740.68353948
89Cholinergic synapse_Homo sapiens_hsa047250.63385302
90MicroRNAs in cancer_Homo sapiens_hsa052060.62152203
91Renin secretion_Homo sapiens_hsa049240.62072130
92Fatty acid biosynthesis_Homo sapiens_hsa000610.60153232
93Tight junction_Homo sapiens_hsa045300.59905064
94Complement and coagulation cascades_Homo sapiens_hsa046100.57949067
95Pancreatic secretion_Homo sapiens_hsa049720.57563207
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.57192761
97Rap1 signaling pathway_Homo sapiens_hsa040150.57100697
98Cyanoamino acid metabolism_Homo sapiens_hsa004600.57029090
99N-Glycan biosynthesis_Homo sapiens_hsa005100.56794437
100Calcium signaling pathway_Homo sapiens_hsa040200.56153132

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