CST4

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 cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein maturation by protein folding (GO:0022417)8.61112236
2establishment of viral latency (GO:0019043)7.44389887
3establishment of integrated proviral latency (GO:0075713)7.27735200
4extracellular fibril organization (GO:0043206)6.52846280
5fibril organization (GO:0097435)5.45885010
6* detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)5.36579562
7positive regulation of actin filament depolymerization (GO:0030836)5.19825551
8response to gravity (GO:0009629)5.14927549
9nuclear envelope reassembly (GO:0031468)5.07398834
10mitotic nuclear envelope reassembly (GO:0007084)5.07398834
11negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)5.06505148
12endothelial tube morphogenesis (GO:0061154)4.75620068
13morphogenesis of an endothelium (GO:0003159)4.75620068
14DNA unwinding involved in DNA replication (GO:0006268)4.68148103
15regulation of metalloenzyme activity (GO:0048552)4.46290607
16* detection of chemical stimulus involved in sensory perception of taste (GO:0050912)4.34396612
17deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.18943323
18muscle cell migration (GO:0014812)4.16718706
19negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.13139873
20negative regulation of glycoprotein metabolic process (GO:1903019)4.11453775
21proteasome assembly (GO:0043248)4.06881337
22positive regulation of pseudopodium assembly (GO:0031274)4.05856031
23type B pancreatic cell proliferation (GO:0044342)3.96637677
24sequestering of actin monomers (GO:0042989)3.95350770
25response to interferon-beta (GO:0035456)3.93490367
26COPI coating of Golgi vesicle (GO:0048205)3.93025540
27Golgi transport vesicle coating (GO:0048200)3.93025540
28galactose catabolic process (GO:0019388)3.91087768
29actin filament depolymerization (GO:0030042)3.87667115
30negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.80568465
31barbed-end actin filament capping (GO:0051016)3.67236381
32regulation of pseudopodium assembly (GO:0031272)3.63086422
33positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.57782098
34negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.54114902
35regulation of cellular amino acid metabolic process (GO:0006521)3.51420510
36negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.49424372
37mesenchymal cell differentiation involved in kidney development (GO:0072161)3.44738820
38mesenchymal cell differentiation involved in renal system development (GO:2001012)3.44738820
39protein retention in ER lumen (GO:0006621)3.44095218
40positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.43767622
41regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.41322623
42DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.40789141
43negative regulation of ligase activity (GO:0051352)3.39847764
44negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.39847764
45nucleoside transmembrane transport (GO:1901642)3.39160656
46cellular copper ion homeostasis (GO:0006878)3.37546365
47intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.31218847
48signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.31218847
49anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.29956153
50lipopolysaccharide biosynthetic process (GO:0009103)3.29830609
51heterochromatin organization (GO:0070828)3.26577180
52signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.23120816
53signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.23120816
54signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.23120816
55membrane raft organization (GO:0031579)3.20536072
56telomere maintenance via semi-conservative replication (GO:0032201)3.20257358
57pattern specification involved in kidney development (GO:0061004)3.17948011
58galactose metabolic process (GO:0006012)3.16772506
59positive regulation of protein complex disassembly (GO:0043243)3.16272312
60signal transduction involved in DNA integrity checkpoint (GO:0072401)3.13357593
61signal transduction involved in DNA damage checkpoint (GO:0072422)3.13357593
62antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.12895799
63maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.07772738
64signal transduction involved in cell cycle checkpoint (GO:0072395)3.06578868
65cellular response to zinc ion (GO:0071294)3.06183385
66cortical actin cytoskeleton organization (GO:0030866)3.03000331
67fibrinolysis (GO:0042730)2.97569677
68pyrimidine nucleoside salvage (GO:0043097)2.96525850
69pyrimidine-containing compound salvage (GO:0008655)2.96525850
70regulation of mitochondrial translation (GO:0070129)2.94232056
71mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.94013150
72positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.92279204
73antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.89616700
74endosome to pigment granule transport (GO:0043485)2.88726088
75endosome to melanosome transport (GO:0035646)2.88726088
76termination of RNA polymerase III transcription (GO:0006386)2.87301923
77transcription elongation from RNA polymerase III promoter (GO:0006385)2.87301923
78protein complex biogenesis (GO:0070271)2.85303675
79negative regulation of mitochondrion organization (GO:0010823)2.84213002
80GDP-mannose metabolic process (GO:0019673)2.80706638
81glycolytic process (GO:0006096)2.80508314
82response to copper ion (GO:0046688)2.76403921
83base-excision repair (GO:0006284)2.75363369
84protein deneddylation (GO:0000338)2.74919626
85fusion of sperm to egg plasma membrane (GO:0007342)2.74296455
86copper ion homeostasis (GO:0055070)2.74169377
87cullin deneddylation (GO:0010388)2.73615127
88positive regulation of interleukin-8 secretion (GO:2000484)2.73012418
89DNA strand elongation involved in DNA replication (GO:0006271)2.72595128
90mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.72535351
91chaperone-mediated protein transport (GO:0072321)2.72495862
92negative regulation of calcium ion transport into cytosol (GO:0010523)2.71515166
93positive regulation of ligase activity (GO:0051351)2.71126114
94lipopolysaccharide metabolic process (GO:0008653)2.68859549
95DNA strand elongation (GO:0022616)2.68856438
96transcription-coupled nucleotide-excision repair (GO:0006283)2.67686580
97cortical cytoskeleton organization (GO:0030865)2.67395941
98AMP metabolic process (GO:0046033)2.65113407
99energy coupled proton transport, down electrochemical gradient (GO:0015985)2.63284604
100ATP synthesis coupled proton transport (GO:0015986)2.63284604

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.90717359
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.59612739
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.58066622
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.11172205
5RARG_19884340_ChIP-ChIP_MEFs_Mouse2.96995329
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.88869103
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.80006670
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.60821279
9MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.59250709
10DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.49037453
11CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.47641122
12ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.45168609
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.43519318
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.40728221
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.36671526
16HIF1A_21447827_ChIP-Seq_MCF-7_Human2.36154598
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.26883403
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.24513880
19SRF_21415370_ChIP-Seq_HL-1_Mouse2.16825202
20E2F1_18555785_ChIP-Seq_MESCs_Mouse2.10307113
21THAP11_20581084_ChIP-Seq_MESCs_Mouse2.10180285
22ETS1_20019798_ChIP-Seq_JURKAT_Human2.09167570
23EST1_17652178_ChIP-ChIP_JURKAT_Human2.01064395
24ELF1_17652178_ChIP-ChIP_JURKAT_Human1.99418554
25CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.98122026
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.88742218
27CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.84252144
28NELFA_20434984_ChIP-Seq_ESCs_Mouse1.83018809
29CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.82914366
30MYC_18555785_ChIP-Seq_MESCs_Mouse1.82839012
31POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.80594678
32ELK3_25401928_ChIP-Seq_HUVEC_Human1.75769501
33DCP1A_22483619_ChIP-Seq_HELA_Human1.75742164
34DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.73665429
35GABP_19822575_ChIP-Seq_HepG2_Human1.72855286
36TRIM28_21343339_ChIP-Seq_HEK293_Human1.69975783
37NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.68470848
38MYC_19030024_ChIP-ChIP_MESCs_Mouse1.65601426
39KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.62795208
40SRY_22984422_ChIP-ChIP_TESTIS_Rat1.60597211
41XRN2_22483619_ChIP-Seq_HELA_Human1.56829127
42TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54886944
43ZNF263_19887448_ChIP-Seq_K562_Human1.51348641
44CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.50649994
45FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.48708456
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.45124650
47SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.44647734
48MYC_19079543_ChIP-ChIP_MESCs_Mouse1.43319254
49CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.40529279
50ELK1_22589737_ChIP-Seq_MCF10A_Human1.40223517
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.39937724
52HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.38389659
53VDR_23849224_ChIP-Seq_CD4+_Human1.38113159
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.37586452
55* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37406024
56TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33419962
57ATF3_27146783_Chip-Seq_COLON_Human1.30160996
58HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.28729253
59RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.28559363
60ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.26346231
61CTCF_18555785_ChIP-Seq_MESCs_Mouse1.26038078
62SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.24100612
63SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.24100612
64TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21890264
65PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.18967389
66SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.18217975
67TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17275870
68BCL6_27268052_Chip-Seq_Bcells_Human1.16380096
69YY1_21170310_ChIP-Seq_MESCs_Mouse1.16117472
70HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.15664176
71* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.15222482
72ELK1_19687146_ChIP-ChIP_HELA_Human1.15184134
73NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.14729816
74E2F7_22180533_ChIP-Seq_HELA_Human1.13982961
75PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.13639496
76ZFX_18555785_ChIP-Seq_MESCs_Mouse1.13593881
77HOXB4_20404135_ChIP-ChIP_EML_Mouse1.12818382
78PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.11077331
79TET1_21451524_ChIP-Seq_MESCs_Mouse1.10344418
80FOXM1_23109430_ChIP-Seq_U2OS_Human1.09066050
81STAT4_19710469_ChIP-ChIP_TH1__Mouse1.08482383
82TBX5_21415370_ChIP-Seq_HL-1_Mouse1.08371925
83PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.07356678
84BCOR_27268052_Chip-Seq_Bcells_Human1.07086855
85CSB_26484114_Chip-Seq_FIBROBLAST_Human1.06892338
86RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.05514799
87SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.05248444
88CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.05220777
89BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03493978
90MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.03150801
91TTF2_22483619_ChIP-Seq_HELA_Human1.02964760
92FOXP3_21729870_ChIP-Seq_TREG_Human1.02954209
93TFEB_21752829_ChIP-Seq_HELA_Human1.02760195
94EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.01258148
95SOX17_20123909_ChIP-Seq_XEN_Mouse0.99764630
96TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99388983
97RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.98706940
98ELF1_20517297_ChIP-Seq_JURKAT_Human0.98309862
99FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.97434422
100CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.96697881

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003123_paternal_imprinting4.55576705
2MP0003191_abnormal_cellular_cholesterol4.33940934
3MP0000751_myopathy3.60600650
4MP0010030_abnormal_orbit_morphology3.50047870
5MP0004510_myositis3.46024577
6MP0005257_abnormal_intraocular_pressure3.18993608
7MP0000750_abnormal_muscle_regeneration2.91873013
8MP0005165_increased_susceptibility_to2.91477690
9MP0003950_abnormal_plasma_membrane2.77302821
10MP0003075_altered_response_to2.69652550
11MP0002877_abnormal_melanocyte_morpholog2.66572537
12MP0004272_abnormal_basement_membrane2.63187005
13MP0000749_muscle_degeneration2.60523070
14MP0005058_abnormal_lysosome_morphology2.58100710
15MP0001542_abnormal_bone_strength2.57789053
16MP0002332_abnormal_exercise_endurance2.54837615
17MP0003566_abnormal_cell_adhesion2.38248564
18MP0003315_abnormal_perineum_morphology2.32559021
19MP0005330_cardiomyopathy2.10001781
20MP0009840_abnormal_foam_cell2.07732992
21MP0000343_altered_response_to2.02852971
22MP0006054_spinal_hemorrhage2.00847568
23MP0005367_renal/urinary_system_phenotyp1.91286585
24MP0000516_abnormal_urinary_system1.91286585
25MP0000858_altered_metastatic_potential1.84580840
26MP0001853_heart_inflammation1.75630311
27MP0003806_abnormal_nucleotide_metabolis1.72477739
28MP0003786_premature_aging1.69613697
29MP0003329_amyloid_beta_deposits1.62968445
30MP0005360_urolithiasis1.61295282
31MP0001299_abnormal_eye_distance/1.59773984
32MP0003186_abnormal_redox_activity1.54504550
33MP0008260_abnormal_autophagy1.52698636
34MP0005670_abnormal_white_adipose1.50462708
35MP0008775_abnormal_heart_ventricle1.48610944
36MP0003436_decreased_susceptibility_to1.43576960
37MP0004147_increased_porphyrin_level1.41659016
38MP0005464_abnormal_platelet_physiology1.38666322
39MP0002653_abnormal_ependyma_morphology1.35365054
40MP0009780_abnormal_chondrocyte_physiolo1.34094582
41MP0008438_abnormal_cutaneous_collagen1.31618255
42MP0009697_abnormal_copulation1.29424107
43MP0002972_abnormal_cardiac_muscle1.23290117
44MP0005166_decreased_susceptibility_to1.22500890
45MP0009333_abnormal_splenocyte_physiolog1.22022444
46MP0001243_abnormal_dermal_layer1.20020842
47MP0006036_abnormal_mitochondrial_physio1.19676024
48MP0000647_abnormal_sebaceous_gland1.19249480
49MP0005451_abnormal_body_composition1.17062657
50MP0002060_abnormal_skin_morphology1.16355400
51MP0005083_abnormal_biliary_tract1.16145857
52MP0005197_abnormal_uvea_morphology1.14994886
53MP0002177_abnormal_outer_ear1.13947682
54MP0003656_abnormal_erythrocyte_physiolo1.12782422
55MP0008007_abnormal_cellular_replicative1.09786149
56MP0005584_abnormal_enzyme/coenzyme_acti1.09085727
57MP0001346_abnormal_lacrimal_gland1.06796159
58MP0003718_maternal_effect1.06482462
59MP0002282_abnormal_trachea_morphology1.05240352
60MP0003279_aneurysm1.03106671
61MP0001533_abnormal_skeleton_physiology0.98109322
62MP0003638_abnormal_response/metabolism_0.93029328
63MP0000358_abnormal_cell_content/0.92995089
64MP0004957_abnormal_blastocyst_morpholog0.91502139
65MP0010368_abnormal_lymphatic_system0.89982190
66MP0002106_abnormal_muscle_physiology0.89702573
67MP0000747_muscle_weakness0.88734634
68MP0003077_abnormal_cell_cycle0.88569448
69MP0005164_abnormal_response_to0.86710500
70MP0001905_abnormal_dopamine_level0.84461399
71MP0000604_amyloidosis0.82968829
72MP0003693_abnormal_embryo_hatching0.79870588
73MP0005501_abnormal_skin_physiology0.79599121
74MP0002006_tumorigenesis0.77702364
75MP0002837_dystrophic_cardiac_calcinosis0.77575837
76MP0008932_abnormal_embryonic_tissue0.77247585
77MP0002148_abnormal_hypersensitivity_rea0.75015406
78MP0009764_decreased_sensitivity_to0.74209312
79MP0000762_abnormal_tongue_morphology0.72259972
80MP0008058_abnormal_DNA_repair0.72100580
81MP0005266_abnormal_metabolism0.69087617
82MP0002295_abnormal_pulmonary_circulatio0.68692138
83MP0002019_abnormal_tumor_incidence0.66838755
84MP0009053_abnormal_anal_canal0.66547121
85MP0005395_other_phenotype0.65930657
86MP0001216_abnormal_epidermal_layer0.64888368
87MP0005390_skeleton_phenotype0.62967672
88MP0000249_abnormal_blood_vessel0.62401408
89MP0008469_abnormal_protein_level0.61795586
90MP0002796_impaired_skin_barrier0.61228490
91MP0008875_abnormal_xenobiotic_pharmacok0.60766112
92MP0005023_abnormal_wound_healing0.60722067
93MP0000534_abnormal_ureter_morphology0.60596707
94MP0005084_abnormal_gallbladder_morpholo0.60183482
95MP0003091_abnormal_cell_migration0.56573660
96MP0010771_integument_phenotype0.56317098
97MP0006035_abnormal_mitochondrial_morpho0.56209498
98MP0009278_abnormal_bone_marrow0.55575449
99MP0003195_calcinosis0.55058807
100MP0003111_abnormal_nucleus_morphology0.53441762

Predicted human phenotypes

RankGene SetZ-score
1Amyloidosis (HP:0011034)5.68414882
2Glucose intolerance (HP:0000833)4.46363963
3Reduced subcutaneous adipose tissue (HP:0003758)4.27082515
4Adrenal hypoplasia (HP:0000835)4.03797920
5Hepatocellular necrosis (HP:0001404)3.90828351
6Delayed CNS myelination (HP:0002188)3.82439517
7Premature rupture of membranes (HP:0001788)3.66529915
8Mitochondrial inheritance (HP:0001427)3.53513574
9Hepatic necrosis (HP:0002605)3.49092618
10Upper limb muscle weakness (HP:0003484)3.44976070
11Osteolytic defects of the phalanges of the hand (HP:0009771)3.36791997
12Osteolytic defects of the hand bones (HP:0009699)3.36791997
13Cholecystitis (HP:0001082)3.33767778
14Abnormal gallbladder physiology (HP:0012438)3.33767778
15Microglossia (HP:0000171)3.32550988
16Distal lower limb muscle weakness (HP:0009053)3.28703892
17Abnormal mitochondria in muscle tissue (HP:0008316)3.16200263
18Acute necrotizing encephalopathy (HP:0006965)3.15535590
19Vertebral compression fractures (HP:0002953)3.08974247
20Vascular calcification (HP:0004934)3.06199402
21Abnormal glucose tolerance (HP:0001952)3.00685542
22Insulin resistance (HP:0000855)2.99451263
23Increased serum pyruvate (HP:0003542)2.97367607
24Axonal loss (HP:0003447)2.91964709
25Entropion (HP:0000621)2.89253403
26Increased CSF lactate (HP:0002490)2.83759683
27Joint hemorrhage (HP:0005261)2.83568728
28Rough bone trabeculation (HP:0100670)2.83148029
29Short nail (HP:0001799)2.80630502
30Abnormality of glycolysis (HP:0004366)2.78985367
31Type I transferrin isoform profile (HP:0003642)2.78504049
32Reduced antithrombin III activity (HP:0001976)2.77352620
33Hand muscle atrophy (HP:0009130)2.75451208
34Limb-girdle muscle atrophy (HP:0003797)2.70214461
35Exercise intolerance (HP:0003546)2.66020221
36Cardiovascular calcification (HP:0011915)2.65968795
37Acute encephalopathy (HP:0006846)2.60232770
38Shoulder girdle muscle weakness (HP:0003547)2.57894960
39Flat capital femoral epiphysis (HP:0003370)2.57021031
40Renal Fanconi syndrome (HP:0001994)2.56404332
41Increased hepatocellular lipid droplets (HP:0006565)2.56315110
42Elevated erythrocyte sedimentation rate (HP:0003565)2.53156713
43Pelvic girdle muscle weakness (HP:0003749)2.52809730
44Abnormality of the musculature of the pelvis (HP:0001469)2.51417577
45Abnormality of the hip-girdle musculature (HP:0001445)2.51417577
46J-shaped sella turcica (HP:0002680)2.49849932
47Exertional dyspnea (HP:0002875)2.49840593
48Progressive macrocephaly (HP:0004481)2.48688525
49Late onset (HP:0003584)2.47772252
50Vacuolated lymphocytes (HP:0001922)2.47370818
51Abnormality of the distal phalanges of the toes (HP:0010182)2.44719708
52Hepatosplenomegaly (HP:0001433)2.43688507
53Sparse eyelashes (HP:0000653)2.43089308
54Distal lower limb amyotrophy (HP:0008944)2.41999399
55Prolonged neonatal jaundice (HP:0006579)2.38710033
56Increased intramyocellular lipid droplets (HP:0012240)2.37910221
57Bifid uvula (HP:0000193)2.36869992
58Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.35996097
59Abnormal protein N-linked glycosylation (HP:0012347)2.35996097
60Abnormal protein glycosylation (HP:0012346)2.35996097
61Abnormal glycosylation (HP:0012345)2.35996097
62Secondary amenorrhea (HP:0000869)2.34543350
63Opisthotonus (HP:0002179)2.32519864
64Abnormality of the sella turcica (HP:0002679)2.29162442
65Distal upper limb amyotrophy (HP:0007149)2.23735935
66Upper limb amyotrophy (HP:0009129)2.23735935
67Atrophic scars (HP:0001075)2.20866204
68Short clavicles (HP:0000894)2.20182105
69Testicular atrophy (HP:0000029)2.20154601
70Difficulty climbing stairs (HP:0003551)2.19422233
71Increased connective tissue (HP:0009025)2.18370434
72Myocardial infarction (HP:0001658)2.17623666
73Congenital, generalized hypertrichosis (HP:0004540)2.14646216
74Emotional lability (HP:0000712)2.14618388
75Down-sloping shoulders (HP:0200021)2.13657464
76Fatigue (HP:0012378)2.13034803
77Increased serum lactate (HP:0002151)2.11992989
78Lactic acidosis (HP:0003128)2.08790202
79Progressive neurologic deterioration (HP:0002344)2.08719096
80Severe muscular hypotonia (HP:0006829)2.08183246
81Onycholysis (HP:0001806)2.05809120
82Abnormal spermatogenesis (HP:0008669)2.05761214
83Impaired platelet aggregation (HP:0003540)2.03479489
84Abnormal platelet function (HP:0011869)2.03479489
85Aplasia/Hypoplasia of the sacrum (HP:0008517)2.03139751
86Dysostosis multiplex (HP:0000943)2.02923373
87Abnormal autonomic nervous system physiology (HP:0012332)2.02470200
88Lipid accumulation in hepatocytes (HP:0006561)2.02226648
89Respiratory failure (HP:0002878)1.98617389
90Increased muscle lipid content (HP:0009058)1.97948293
91Acanthosis nigricans (HP:0000956)1.97020515
92Abnormal trabecular bone morphology (HP:0100671)1.95786227
93Polygenic inheritance (HP:0010982)1.94358137
94CNS demyelination (HP:0007305)1.93001598
95Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.91444415
96Abnormality of glycolipid metabolism (HP:0010969)1.91098610
97Abnormality of liposaccharide metabolism (HP:0010968)1.91098610
98Abnormality of glycosphingolipid metabolism (HP:0004343)1.91098610
99Joint stiffness (HP:0001387)1.90855757
100Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.90052402

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.72399225
2TESK15.38654573
3TESK25.04660817
4NME24.33207788
5LIMK14.21335895
6EPHA23.59275158
7LMTK23.33770053
8ARAF3.08534809
9PIM22.61238226
10BUB12.50900007
11MAP2K72.18014508
12DAPK12.09454399
13BCKDK2.02959600
14ERN11.84498030
15IRAK31.67467787
16PHKG11.66563170
17PHKG21.66563170
18STK101.52594243
19TAOK21.49822599
20VRK11.43799079
21MOS1.39204788
22ABL21.35151920
23MST1R1.33464614
24KDR1.33409471
25SRPK11.23753401
26PAK41.19640185
27TAF11.17427317
28MAP3K121.10309545
29CSNK1G31.09056835
30HIPK21.07322588
31MAPKAPK31.06301987
32STK161.04517213
33CSNK1A1L0.99449725
34MAP3K110.98874513
35ERBB40.98721866
36NEK10.97761499
37GRK50.90939099
38BRSK10.90344771
39EPHB20.90334479
40MST40.88615473
41PTK20.88111907
42CDK80.86630750
43BRAF0.85561213
44AURKA0.85503506
45TBK10.84256876
46PTK2B0.82943074
47DAPK20.77481175
48ILK0.74935431
49CSNK1G20.74569901
50CSNK1G10.73602616
51CCNB10.72842479
52DAPK30.71663176
53MYLK0.70842481
54SCYL20.69665936
55PAK10.68887299
56SMG10.67718997
57TGFBR20.65031115
58GRK70.64433379
59MAP3K30.61951227
60NUAK10.60951192
61CDK70.58172757
62LRRK20.56165532
63EPHB10.53238751
64RAF10.51617983
65PRPF4B0.50699708
66PRKCI0.49449137
67BMX0.49008871
68CDK140.47207685
69CDC70.45054868
70PDK20.44559534
71CDK190.43621820
72CDK150.39839753
73CDK180.39210129
74CDK11A0.38741494
75EIF2AK20.38590653
76PLK10.37166481
77MET0.36814371
78CAMKK20.35124944
79AURKB0.34537169
80IKBKE0.33457325
81ADRBK10.32498197
82MAPKAPK20.32154897
83PLK30.28277058
84GSK3A0.27333262
85EPHA40.25698406
86RPS6KA50.23616633
87CAMK2G0.22718664
88FER0.21308567
89MAPKAPK50.20990583
90MAP3K80.20416516
91TLK10.18722350
92PTK60.14002927
93PRKD10.13962331
94MAP3K50.12933852
95MAP3K10.12564117
96MAP4K20.11957764
97* CSNK2A20.11247483
98PBK0.09665306
99CSNK2A10.09258164
100CSNK1A10.08670141

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.17132393
2DNA replication_Homo sapiens_hsa030303.68451528
3Oxidative phosphorylation_Homo sapiens_hsa001903.12477134
4Base excision repair_Homo sapiens_hsa034102.66802243
5Parkinsons disease_Homo sapiens_hsa050122.63668929
6Folate biosynthesis_Homo sapiens_hsa007902.62453928
7Mismatch repair_Homo sapiens_hsa034302.62116849
8RNA polymerase_Homo sapiens_hsa030202.51184328
9Fatty acid elongation_Homo sapiens_hsa000622.51072531
10Sulfur relay system_Homo sapiens_hsa041222.33425954
11Huntingtons disease_Homo sapiens_hsa050162.30741988
12Pyrimidine metabolism_Homo sapiens_hsa002402.25794244
13Alzheimers disease_Homo sapiens_hsa050102.18786613
14Galactose metabolism_Homo sapiens_hsa000522.06811066
15Pentose phosphate pathway_Homo sapiens_hsa000302.04969826
16Glutathione metabolism_Homo sapiens_hsa004802.03644685
17Biosynthesis of amino acids_Homo sapiens_hsa012301.92379138
18Ribosome_Homo sapiens_hsa030101.87926767
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.87393565
20Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.86649264
21Nucleotide excision repair_Homo sapiens_hsa034201.86515319
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.86313204
23Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.74486164
24Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.73468277
25Fructose and mannose metabolism_Homo sapiens_hsa000511.71037302
26* Salivary secretion_Homo sapiens_hsa049701.63492124
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.56953056
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.55715742
29Homologous recombination_Homo sapiens_hsa034401.49427109
30Carbon metabolism_Homo sapiens_hsa012001.43189144
31Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.40986060
32Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.37168540
33Glycosaminoglycan degradation_Homo sapiens_hsa005311.36581598
34Pyruvate metabolism_Homo sapiens_hsa006201.35557266
35Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.35515617
36N-Glycan biosynthesis_Homo sapiens_hsa005101.27463571
37Vibrio cholerae infection_Homo sapiens_hsa051101.24935327
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.23891564
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.23606421
40Purine metabolism_Homo sapiens_hsa002301.05813720
41SNARE interactions in vesicular transport_Homo sapiens_hsa041301.04080079
42Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.97360236
43Other glycan degradation_Homo sapiens_hsa005110.93957882
44Cardiac muscle contraction_Homo sapiens_hsa042600.92767946
45Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.91857748
46Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.88499453
47Shigellosis_Homo sapiens_hsa051310.85256469
48Drug metabolism - other enzymes_Homo sapiens_hsa009830.83914317
49Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.81429795
50Lysosome_Homo sapiens_hsa041420.80954974
51Metabolic pathways_Homo sapiens_hsa011000.75974100
52Apoptosis_Homo sapiens_hsa042100.74390178
53Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.73804357
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.70669557
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.66430792
56Cysteine and methionine metabolism_Homo sapiens_hsa002700.64086756
57RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.61442537
58Steroid biosynthesis_Homo sapiens_hsa001000.59913950
59Epstein-Barr virus infection_Homo sapiens_hsa051690.59740853
60Cyanoamino acid metabolism_Homo sapiens_hsa004600.56600545
61Phenylalanine metabolism_Homo sapiens_hsa003600.53730061
62Tyrosine metabolism_Homo sapiens_hsa003500.50526420
63Non-homologous end-joining_Homo sapiens_hsa034500.50319406
64p53 signaling pathway_Homo sapiens_hsa041150.50005143
65Endocytosis_Homo sapiens_hsa041440.49839919
66Bladder cancer_Homo sapiens_hsa052190.49476703
67Peroxisome_Homo sapiens_hsa041460.49358665
68Viral myocarditis_Homo sapiens_hsa054160.48608920
69Spliceosome_Homo sapiens_hsa030400.47902910
70Cell cycle_Homo sapiens_hsa041100.47022642
71Salmonella infection_Homo sapiens_hsa051320.45283379
72Starch and sucrose metabolism_Homo sapiens_hsa005000.44628344
73Mineral absorption_Homo sapiens_hsa049780.44068602
74Synaptic vesicle cycle_Homo sapiens_hsa047210.43003141
75Sulfur metabolism_Homo sapiens_hsa009200.41271099
76Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.40751304
77Arachidonic acid metabolism_Homo sapiens_hsa005900.39611074
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37683532
79NF-kappa B signaling pathway_Homo sapiens_hsa040640.37266811
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37167916
81Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.33629019
82Chemical carcinogenesis_Homo sapiens_hsa052040.32079475
83Complement and coagulation cascades_Homo sapiens_hsa046100.30139284
84RNA transport_Homo sapiens_hsa030130.29607776
85Central carbon metabolism in cancer_Homo sapiens_hsa052300.29566527
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27848465
87Arginine and proline metabolism_Homo sapiens_hsa003300.26083948
88Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.25338938
89Propanoate metabolism_Homo sapiens_hsa006400.24234151
90Antigen processing and presentation_Homo sapiens_hsa046120.22529571
91Protein export_Homo sapiens_hsa030600.20336901
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.20222472
93Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18308472
94Fatty acid metabolism_Homo sapiens_hsa012120.18146300
95HIF-1 signaling pathway_Homo sapiens_hsa040660.15324272
96Phagosome_Homo sapiens_hsa041450.14777834
97Pertussis_Homo sapiens_hsa051330.14478537
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.14393816
99Legionellosis_Homo sapiens_hsa051340.14252822
100Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.12459573

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