CST11

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 an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of chronic inflammatory response (GO:0002676)9.16774890
2single fertilization (GO:0007338)8.68385916
3indole-containing compound catabolic process (GO:0042436)8.62482086
4indolalkylamine catabolic process (GO:0046218)8.62482086
5tryptophan catabolic process (GO:0006569)8.62482086
6heterotypic cell-cell adhesion (GO:0034113)8.60082594
7positive regulation of type 2 immune response (GO:0002830)7.53736237
8negative regulation of interleukin-10 production (GO:0032693)7.42453049
9tryptophan metabolic process (GO:0006568)7.41376760
10aromatic amino acid family catabolic process (GO:0009074)5.90710368
11fertilization (GO:0009566)5.72877836
12amine catabolic process (GO:0009310)5.54598779
13cellular biogenic amine catabolic process (GO:0042402)5.54598779
14indolalkylamine metabolic process (GO:0006586)5.43408314
15negative regulation of interleukin-8 production (GO:0032717)5.28175041
16benzene-containing compound metabolic process (GO:0042537)4.86635540
17digestion (GO:0007586)4.67223683
18epithelial cell morphogenesis (GO:0003382)4.41522872
19negative regulation of T cell apoptotic process (GO:0070233)4.41048675
20positive regulation of cell-cell adhesion (GO:0022409)4.34937021
21aromatic amino acid family metabolic process (GO:0009072)4.27742556
22transepithelial transport (GO:0070633)3.99482768
23regulation of type 2 immune response (GO:0002828)3.92429464
24indole-containing compound metabolic process (GO:0042430)3.88689622
25regulation of clathrin-mediated endocytosis (GO:2000369)3.77748354
26reverse cholesterol transport (GO:0043691)3.71089586
27sulfur amino acid catabolic process (GO:0000098)3.60957843
28* negative regulation of endopeptidase activity (GO:0010951)3.46247620
29N-acetylneuraminate metabolic process (GO:0006054)3.42841103
30negative regulation of protein autophosphorylation (GO:0031953)3.34060121
31negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.32398239
32* negative regulation of peptidase activity (GO:0010466)3.29828303
33phospholipid homeostasis (GO:0055091)3.23028768
34alpha-linolenic acid metabolic process (GO:0036109)3.15713654
35fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.14348785
36regulation of macrophage activation (GO:0043030)3.03681660
37seminiferous tubule development (GO:0072520)25.3418409
38regulation of lipoprotein metabolic process (GO:0050746)2.99711942
39glial cell proliferation (GO:0014009)2.83555474
40cysteine metabolic process (GO:0006534)2.75738472
41regulation of beta-amyloid formation (GO:1902003)2.74621344
42sialylation (GO:0097503)2.74377035
43regulation of activated T cell proliferation (GO:0046006)2.73675149
44negative regulation of glycogen biosynthetic process (GO:0045719)2.73608656
45O-glycan processing (GO:0016266)2.72243745
46complement activation, alternative pathway (GO:0006957)2.71817203
47negative regulation of lymphocyte apoptotic process (GO:0070229)2.69310795
48positive regulation of cellular amide metabolic process (GO:0034250)2.67770227
49high-density lipoprotein particle remodeling (GO:0034375)2.67097076
50positive regulation of interleukin-12 production (GO:0032735)2.57668718
51low-density lipoprotein particle clearance (GO:0034383)2.57186193
52columnar/cuboidal epithelial cell development (GO:0002066)2.54248485
53hormone catabolic process (GO:0042447)2.53426328
54negative regulation of receptor-mediated endocytosis (GO:0048261)2.47999969
55regulation of amyloid precursor protein catabolic process (GO:1902991)2.47643094
56negative regulation of glycogen metabolic process (GO:0070874)2.47338877
57L-serine transport (GO:0015825)2.35795746
58alpha-amino acid catabolic process (GO:1901606)2.34256414
59lipid catabolic process (GO:0016042)2.32997750
60valine metabolic process (GO:0006573)2.32165428
61pyrimidine ribonucleoside catabolic process (GO:0046133)2.30477565
62negative regulation of interleukin-6 production (GO:0032715)2.29703744
63cellular amino acid catabolic process (GO:0009063)2.26587058
64response to misfolded protein (GO:0051788)2.26046507
65triglyceride catabolic process (GO:0019433)2.24855665
66regulation of T cell apoptotic process (GO:0070232)2.24236977
67* defense response to bacterium (GO:0042742)2.22156017
68erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.21159738
69L-phenylalanine catabolic process (GO:0006559)2.21159738
70* negative regulation of proteolysis (GO:0045861)2.18862504
71neutral lipid catabolic process (GO:0046461)2.18605972
72acylglycerol catabolic process (GO:0046464)2.18605972
73plasma lipoprotein particle remodeling (GO:0034369)2.15389256
74protein-lipid complex remodeling (GO:0034368)2.15389256
75macromolecular complex remodeling (GO:0034367)2.15389256
76regulation of interleukin-10 production (GO:0032653)2.11608039
77* negative regulation of protein processing (GO:0010955)2.11206748
78* negative regulation of protein maturation (GO:1903318)2.11206748
79myelin maintenance (GO:0043217)2.11172560
80Golgi transport vesicle coating (GO:0048200)2.11023486
81COPI coating of Golgi vesicle (GO:0048205)2.11023486
82positive regulation of sterol transport (GO:0032373)2.11003250
83positive regulation of cholesterol transport (GO:0032376)2.11003250
84negative regulation of T cell proliferation (GO:0042130)2.06762173
85cellular modified amino acid catabolic process (GO:0042219)2.06747095
86cellular response to epidermal growth factor stimulus (GO:0071364)2.06097705
87glutamate metabolic process (GO:0006536)2.05576561
88serine transport (GO:0032329)2.04442601
89regulation of reproductive process (GO:2000241)2.02746135
90activation of protein kinase A activity (GO:0034199)2.02665109
91regulation of lipoprotein particle clearance (GO:0010984)2.00041475
92production of molecular mediator involved in inflammatory response (GO:0002532)14.4668174
93regulation of T cell tolerance induction (GO:0002664)14.4562440
94positive regulation of tolerance induction (GO:0002645)12.4002638
95sperm capacitation (GO:0048240)11.2795516
96regulation of tolerance induction (GO:0002643)10.7923589
97kynurenine metabolic process (GO:0070189)10.5471395
98* negative regulation of hydrolase activity (GO:0051346)1.99626612
99regulation of apoptotic cell clearance (GO:2000425)1.99335166
100glutamine family amino acid catabolic process (GO:0009065)1.97887575

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human4.82663607
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human4.26638454
3IKZF1_21737484_ChIP-ChIP_HCT116_Human4.09197612
4AR_21572438_ChIP-Seq_LNCaP_Human3.25189758
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.16510160
6FLI1_27457419_Chip-Seq_LIVER_Mouse2.68903342
7ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.63172830
8ESR1_21235772_ChIP-Seq_MCF-7_Human2.58454279
9ZNF263_19887448_ChIP-Seq_K562_Human2.55764520
10ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.46098652
11RXR_22158963_ChIP-Seq_LIVER_Mouse2.37787788
12LXR_22158963_ChIP-Seq_LIVER_Mouse2.33895953
13TRIM28_21343339_ChIP-Seq_HEK293_Human2.12568725
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.09547842
15SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse2.08087509
16CLOCK_20551151_ChIP-Seq_293T_Human2.01692077
17PPARA_22158963_ChIP-Seq_LIVER_Mouse1.90164379
18CTBP1_25329375_ChIP-Seq_LNCAP_Human1.84492372
19GATA3_21867929_ChIP-Seq_TH1_Mouse1.78895060
20PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.71557811
21EGR1_23403033_ChIP-Seq_LIVER_Mouse1.70974497
22NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.70477781
23PCGF2_27294783_Chip-Seq_ESCs_Mouse1.64229609
24CDX2_19796622_ChIP-Seq_MESCs_Mouse1.63335311
25SMAD4_21741376_ChIP-Seq_HESCs_Human1.55816161
26RNF2_18974828_ChIP-Seq_MESCs_Mouse1.55434718
27EZH2_18974828_ChIP-Seq_MESCs_Mouse1.55434718
28STAT1_17558387_ChIP-Seq_HELA_Human1.51944821
29RAD21_21589869_ChIP-Seq_MESCs_Mouse1.50897030
30FLI1_21867929_ChIP-Seq_CD8_Mouse1.50621183
31SOX2_22085726_ChIP-Seq_NPCs_Mouse1.48030295
32STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.47649899
33SUZ12_27294783_Chip-Seq_NPCs_Mouse1.44610545
34ESRRB_18555785_Chip-Seq_ESCs_Mouse1.42939870
35* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.40736733
36SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39765405
37SMAD3_21741376_ChIP-Seq_HESCs_Human1.36524943
38* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.34330064
39SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.32564184
40TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.31438377
41GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.30655442
42ELF1_20517297_ChIP-Seq_JURKAT_Human1.29862328
43* TET1_21451524_ChIP-Seq_MESCs_Mouse1.29417195
44P68_20966046_ChIP-Seq_HELA_Human1.25499985
45* FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.22077478
46SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.20699351
47CTCF_18555785_Chip-Seq_ESCs_Mouse1.20422570
48MYC_27129775_Chip-Seq_CORNEA_Mouse1.17468571
49RACK7_27058665_Chip-Seq_MCF-7_Human1.17303400
50SMC4_20622854_ChIP-Seq_HELA_Human1.17087210
51* REST_19997604_ChIP-ChIP_NEURONS_Mouse1.17024236
52VDR_24787735_ChIP-Seq_THP-1_Human1.16454226
53BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human1.15574472
54JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.15572471
55PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.12472292
56SOX9_24532713_ChIP-Seq_HFSC_Mouse1.11868114
57SALL4_22934838_ChIP-ChIP_CD34+_Human1.11154122
58NFE2_27457419_Chip-Seq_LIVER_Mouse1.11035569
59TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10815399
60BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.08820749
61MYC_19915707_ChIP-ChIP_AK7_Human1.08083416
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.07592866
63MTF2_20144788_ChIP-Seq_MESCs_Mouse1.07380839
64SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.05095694
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.04848523
66EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.04412972
67FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03962815
68REST_18959480_ChIP-ChIP_MESCs_Mouse1.01951408
69SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.01103414
70SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.01061992
71BCL6_27268052_Chip-Seq_Bcells_Human0.99806933
72ELK4_26923725_Chip-Seq_MESODERM_Mouse0.99740513
73SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.99698290
74FOXH1_21741376_ChIP-Seq_ESCs_Human0.99469606
75DROSHA_22980978_ChIP-Seq_HELA_Human0.99009610
76* GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.98988853
77ZNF217_24962896_ChIP-Seq_MCF-7_Human0.97808598
78KDM2B_26808549_Chip-Seq_REH_Human0.96960750
79TP53_20018659_ChIP-ChIP_R1E_Mouse0.96942445
80SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.95446260
81EZH2_27304074_Chip-Seq_ESCs_Mouse0.95383270
82ETS1_21867929_ChIP-Seq_TH2_Mouse0.95318784
83BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.95318020
84KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.94032392
85ERG_21242973_ChIP-ChIP_JURKAT_Human0.93911948
86EZH2_27294783_Chip-Seq_NPCs_Mouse0.93124413
87NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.92209989
88* CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91353046
89KDM2B_26808549_Chip-Seq_K562_Human0.90961683
90LXR_22292898_ChIP-Seq_THP-1_Human0.90833987
91SOX2_18555785_Chip-Seq_ESCs_Mouse0.89939165
92P300_27268052_Chip-Seq_Bcells_Human0.88699201
93GATA1_19941826_ChIP-Seq_K562_Human0.86391037
94BCOR_27268052_Chip-Seq_Bcells_Human0.86333785
95* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.86318835
96RAC3_21632823_ChIP-Seq_H3396_Human0.86215463
97SOX2_20726797_ChIP-Seq_SW620_Human0.86185918
98WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.85279638
99RUNX1_27457419_Chip-Seq_LIVER_Mouse0.84260863
100OCT4_20526341_ChIP-Seq_ESCs_Human0.81491475

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation5.76790310
2MP0003195_calcinosis5.19498467
3MP0002254_reproductive_system_inflammat4.95113719
4MP0004043_abnormal_pH_regulation4.71276793
5MP0010234_abnormal_vibrissa_follicle4.20173537
6MP0002139_abnormal_hepatobiliary_system4.16485209
7MP0005410_abnormal_fertilization3.34036186
8MP0005058_abnormal_lysosome_morphology3.16362955
9MP0003329_amyloid_beta_deposits3.04437925
10MP0000003_abnormal_adipose_tissue2.16416009
11MP0005360_urolithiasis2.14958680
12MP0000604_amyloidosis2.08210881
13MP0010329_abnormal_lipoprotein_level2.05407021
14MP0002168_other_aberrant_phenotype1.98251099
15MP0005365_abnormal_bile_salt1.82270619
16MP0003300_gastrointestinal_ulcer1.80036340
17MP0003566_abnormal_cell_adhesion1.73786217
18MP0004885_abnormal_endolymph1.69613724
19MP0001501_abnormal_sleep_pattern1.59717429
20MP0005085_abnormal_gallbladder_physiolo1.57751231
21MP0004130_abnormal_muscle_cell1.56425732
22MP0001765_abnormal_ion_homeostasis1.54009786
23MP0004859_abnormal_synaptic_plasticity1.52277883
24MP0005375_adipose_tissue_phenotype1.51735737
25MP0002837_dystrophic_cardiac_calcinosis1.49653882
26MP0001440_abnormal_grooming_behavior1.47688263
27MP0001853_heart_inflammation1.43217641
28MP0000534_abnormal_ureter_morphology1.39025726
29MP0003690_abnormal_glial_cell1.38695932
30MP0009643_abnormal_urine_homeostasis1.34282510
31MP0004858_abnormal_nervous_system1.32627959
32MP0003705_abnormal_hypodermis_morpholog1.30479527
33MP0004185_abnormal_adipocyte_glucose1.27125085
34MP0005332_abnormal_amino_acid1.26974931
35MP0005083_abnormal_biliary_tract1.24393642
36MP0002118_abnormal_lipid_homeostasis1.18179990
37MP0008438_abnormal_cutaneous_collagen1.17933591
38MP0002089_abnormal_postnatal_growth/wei1.17572740
39MP0000537_abnormal_urethra_morphology1.15221190
40MP0005584_abnormal_enzyme/coenzyme_acti1.15008473
41MP0001756_abnormal_urination1.14607978
42MP0004270_analgesia1.14260214
43MP0005275_abnormal_skin_tensile1.11986695
44MP0003191_abnormal_cellular_cholesterol1.06952174
45MP0002896_abnormal_bone_mineralization1.06402009
46MP0002796_impaired_skin_barrier1.02954362
47MP0003806_abnormal_nucleotide_metabolis1.01968191
48MP0009780_abnormal_chondrocyte_physiolo1.00849163
49MP0003252_abnormal_bile_duct1.00152016
50MP0005636_abnormal_mineral_homeostasis0.99498899
51MP0003632_abnormal_nervous_system0.98469226
52MP0004145_abnormal_muscle_electrophysio0.96768468
53MP0002909_abnormal_adrenal_gland0.96419568
54MP0005666_abnormal_adipose_tissue0.94556350
55MP0008875_abnormal_xenobiotic_pharmacok0.94203810
56MP0003075_altered_response_to0.94126733
57MP0003698_abnormal_male_reproductive0.93172470
58MP0003879_abnormal_hair_cell0.92893170
59MP0000920_abnormal_myelination0.92281076
60MP0002733_abnormal_thermal_nociception0.87786708
61MP0000747_muscle_weakness0.85542976
62MP0002136_abnormal_kidney_physiology0.82554268
63MP0002876_abnormal_thyroid_physiology0.82382810
64MP0002933_joint_inflammation0.79574632
65MP0003635_abnormal_synaptic_transmissio0.78635384
66MP0004036_abnormal_muscle_relaxation0.78552607
67MP0003631_nervous_system_phenotype0.78284011
68MP0000609_abnormal_liver_physiology0.77151516
69MP0003633_abnormal_nervous_system0.74295910
70MP0005319_abnormal_enzyme/_coenzyme0.71813656
71MP0005395_other_phenotype0.68812548
72MP0002735_abnormal_chemical_nociception0.68376161
73MP0005670_abnormal_white_adipose0.68145782
74MP0005623_abnormal_meninges_morphology0.67189960
75MP0010678_abnormal_skin_adnexa0.65851706
76MP0009840_abnormal_foam_cell0.64846726
77MP0002272_abnormal_nervous_system0.63704703
78MP0009384_cardiac_valve_regurgitation0.63682561
79MP0005535_abnormal_body_temperature0.63566251
80MP0003634_abnormal_glial_cell0.62919002
81MP0000538_abnormal_urinary_bladder0.62626401
82MP0005334_abnormal_fat_pad0.61565218
83MP0000462_abnormal_digestive_system0.60619294
84MP0002971_abnormal_brown_adipose0.60403535
85MP0000249_abnormal_blood_vessel0.59658953
86MP0002009_preneoplasia0.58692889
87MP0001970_abnormal_pain_threshold0.58691197
88MP0002295_abnormal_pulmonary_circulatio0.58028919
89MP0001666_abnormal_nutrient_absorption0.56882172
90MP0000751_myopathy0.56254885
91MP0004272_abnormal_basement_membrane0.55900281
92MP0002064_seizures0.54054414
93MP0009053_abnormal_anal_canal0.53644914
94MP0002653_abnormal_ependyma_morphology0.52284541
95MP0005166_decreased_susceptibility_to0.51608191
96MP0003959_abnormal_lean_body0.51506592
97MP0002161_abnormal_fertility/fecundity0.50271560
98MP0000013_abnormal_adipose_tissue0.49987711
99MP0004087_abnormal_muscle_fiber0.48873856
100MP0004084_abnormal_cardiac_muscle0.48663537

Predicted human phenotypes

RankGene SetZ-score
1Myocardial infarction (HP:0001658)5.38065697
2Hypophosphatemic rickets (HP:0004912)5.11509708
3Facial shape deformation (HP:0011334)4.82164734
4Potter facies (HP:0002009)4.82164734
5Vascular calcification (HP:0004934)4.73817743
6Complement deficiency (HP:0004431)4.60478904
7Cardiovascular calcification (HP:0011915)4.41713011
8Neurofibrillary tangles (HP:0002185)4.32886639
9Cerebral inclusion bodies (HP:0100314)4.19676517
10Malnutrition (HP:0004395)3.94677916
11Choroideremia (HP:0001139)3.77365299
12Neoplasm of the heart (HP:0100544)3.56305752
13Abnormality of complement system (HP:0005339)3.34342630
14Infantile muscular hypotonia (HP:0008947)3.26158472
15Recurrent gram-negative bacterial infections (HP:0005420)3.22127724
16Supranuclear gaze palsy (HP:0000605)3.19904128
17Widely patent fontanelles and sutures (HP:0004492)3.19066691
18Xanthomatosis (HP:0000991)3.16037212
19Intention tremor (HP:0002080)3.15692804
20Rickets (HP:0002748)3.14759633
21Agitation (HP:0000713)3.07559274
22Deep venous thrombosis (HP:0002625)3.05879622
23Choreoathetosis (HP:0001266)3.05805950
24Hemiplegia (HP:0002301)2.75938959
25Ketoacidosis (HP:0001993)2.66467497
26Polar cataract (HP:0010696)2.49275410
27Abnormality of the fovea (HP:0000493)2.48560636
28Ketosis (HP:0001946)2.48183337
29Difficulty running (HP:0009046)2.41602269
30Intrahepatic cholestasis (HP:0001406)2.41292123
31Gout (HP:0001997)2.40500573
32Hemorrhage of the eye (HP:0011885)2.38816987
33Vacuolated lymphocytes (HP:0001922)2.37330929
34Hypopigmentation of the fundus (HP:0007894)2.36887436
35Testicular atrophy (HP:0000029)2.33693014
36Peripheral hypomyelination (HP:0007182)2.32929516
37Skin nodule (HP:0200036)2.30476101
38Abnormality of aromatic amino acid family metabolism (HP:0004338)2.28486080
39Hyporeflexia of lower limbs (HP:0002600)2.25844611
40Hyperglycinuria (HP:0003108)2.24056376
41Acanthosis nigricans (HP:0000956)2.23018506
42Abnormality of purine metabolism (HP:0004352)2.21569207
43Abnormal hemoglobin (HP:0011902)2.18868059
44Osteomalacia (HP:0002749)2.16369742
45Gait ataxia (HP:0002066)2.12358205
46Epidermoid cyst (HP:0200040)2.11758516
47Ulnar claw (HP:0001178)2.09407786
48Hyperlipoproteinemia (HP:0010980)2.06997457
49Abnormal rod and cone electroretinograms (HP:0008323)2.04320812
50Thin bony cortex (HP:0002753)2.04194450
51Hepatoblastoma (HP:0002884)2.04011185
52Focal segmental glomerulosclerosis (HP:0000097)2.03704062
53Spastic diplegia (HP:0001264)2.01112565
54Myokymia (HP:0002411)2.00561530
55Abnormality of glycine metabolism (HP:0010895)1.98357384
56Abnormality of serine family amino acid metabolism (HP:0010894)1.98357384
57Hyperparathyroidism (HP:0000843)1.98254655
58Right ventricular cardiomyopathy (HP:0011663)1.94094034
59Segmental peripheral demyelination/remyelination (HP:0003481)1.93239992
60Muscle fiber splitting (HP:0003555)1.90499052
61Dysostosis multiplex (HP:0000943)1.90045144
62Wide cranial sutures (HP:0010537)1.86563925
63Ectopia lentis (HP:0001083)1.86411589
64Hypertriglyceridemia (HP:0002155)1.86171326
65Systemic lupus erythematosus (HP:0002725)1.84905926
66Hyperammonemia (HP:0001987)1.84901431
67Increased connective tissue (HP:0009025)1.84535696
68Prominent nose (HP:0000448)1.84422586
69Restlessness (HP:0000711)1.82064254
70Hypoalphalipoproteinemia (HP:0003233)1.81135556
71Hyperphosphatemia (HP:0002905)1.81057347
72Degeneration of the lateral corticospinal tracts (HP:0002314)1.80102707
73Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.80102707
74Hypophosphatemia (HP:0002148)1.78167936
75Pili torti (HP:0003777)1.77153912
76Glomerulosclerosis (HP:0000096)1.76695812
77Abnormality of monocarboxylic acid metabolism (HP:0010996)1.75414767
78Bony spicule pigmentary retinopathy (HP:0007737)1.75327219
79Gastrointestinal dysmotility (HP:0002579)1.75178406
80Psychosis (HP:0000709)1.74045777
81Increased CSF protein (HP:0002922)1.72120614
82Progressive neurologic deterioration (HP:0002344)1.71931506
83Oligomenorrhea (HP:0000876)1.69173628
84Tubulointerstitial fibrosis (HP:0005576)1.68613861
85Amyloidosis (HP:0011034)1.68373781
86Turricephaly (HP:0000262)1.67847855
87Abnormality of the periventricular white matter (HP:0002518)1.65534908
88Calf muscle hypertrophy (HP:0008981)1.63262115
89Abnormal cartilage morphology (HP:0002763)1.60720935
90Abnormality of sulfur amino acid metabolism (HP:0004339)1.59785544
91Abnormality of the Achilles tendon (HP:0005109)1.59612754
92Hyperglycinemia (HP:0002154)1.59590905
93Subcapsular cataract (HP:0000523)1.59394724
94Prominent forehead (HP:0011220)1.59177067
95Abnormality of transition element cation homeostasis (HP:0011030)1.59069815
96Abdominal situs inversus (HP:0003363)1.57656628
97Abnormality of abdominal situs (HP:0011620)1.57656628
98Back pain (HP:0003418)1.56799822
99Loss of speech (HP:0002371)1.56422926
100Rectal prolapse (HP:0002035)1.54906474

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST43.67436197
2ERN13.32583923
3LMTK23.19311270
4EPHB12.85626575
5SIK12.62065526
6PKN22.49579038
7LRRK22.37191906
8FGFR22.20455725
9TRIB32.19942882
10PDGFRA2.19821399
11FER2.15508988
12FGFR41.96351856
13TAOK31.88415975
14STK391.87658338
15WNK41.82573684
16PRKD31.82490977
17MAP3K21.58441074
18PTK61.50492389
19TNK21.43629266
20EPHA21.42064480
21NTRK31.38410336
22TTN1.37492513
23RET1.37321981
24TYRO31.35662382
25PTK2B1.30374874
26RIPK41.26868784
27NTRK11.25347285
28PAK31.24343710
29PTK21.18917823
30MAP2K41.16843840
31MYLK1.16170574
32INSR1.13670527
33SCYL21.13008595
34STK101.12277128
35PAK61.08804203
36CDK191.08702115
37KSR21.08632234
38TESK11.07328280
39PRKCH1.07283172
40FGFR30.98042029
41BCKDK0.96772117
42FRK0.96341866
43MAP3K70.91275881
44DMPK0.88959192
45LATS20.86607457
46EPHB20.85307956
47PAK40.83845918
48CDK50.83711846
49ALK0.82356477
50ICK0.81974016
51PAK20.80749361
52MAP3K120.78969746
53EPHA40.78326134
54SIK20.77341957
55MAP3K60.76170182
56NTRK20.72899469
57CAMK1G0.72794708
58PDK40.72658902
59PDK30.72658902
60MAP2K10.71199663
61WNK10.71176959
62PRKCG0.69941817
63PHKG20.68989156
64PHKG10.68989156
65MINK10.68570178
66DAPK20.68402131
67GSK3A0.67779212
68DDR20.66223499
69JAK20.64838642
70ROCK20.62681908
71FGFR10.62551432
72SRC0.61306843
73UHMK10.60885122
74PDGFRB0.60829402
75STK380.60629755
76FYN0.59078708
77FLT30.58279936
78PRKD10.58055806
79LATS10.56989709
80AKT30.55960753
81EEF2K0.55176120
82PRKCZ0.54967727
83PRKACG0.54706661
84FES0.53703498
85CDK60.52738754
86CSNK1E0.52429889
87MET0.50487874
88MARK10.50165628
89MAP3K90.49263496
90ERBB20.48999704
91EGFR0.47578233
92MAP3K130.46420887
93RIPK10.45950280
94PRKCQ0.45008611
95CSK0.43098110
96PDK10.42622873
97CAMK1D0.41751178
98GRK50.41424573
99JAK10.39550000
100PDPK10.38431740

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009105.22576270
2Glutathione metabolism_Homo sapiens_hsa004804.29672334
3Arachidonic acid metabolism_Homo sapiens_hsa005903.47711956
4Tryptophan metabolism_Homo sapiens_hsa003803.47502921
5Thyroid hormone synthesis_Homo sapiens_hsa049183.39859735
6African trypanosomiasis_Homo sapiens_hsa051433.30173358
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.08670500
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.72844817
9Sulfur metabolism_Homo sapiens_hsa009202.01923857
10Fatty acid degradation_Homo sapiens_hsa000711.98413944
11Fatty acid metabolism_Homo sapiens_hsa012121.95323322
12Arginine biosynthesis_Homo sapiens_hsa002201.86810582
13PPAR signaling pathway_Homo sapiens_hsa033201.62915602
14Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.57782139
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.54454292
16Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.50272505
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.40009276
18Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.37020693
19Salivary secretion_Homo sapiens_hsa049701.32306897
20Glycerolipid metabolism_Homo sapiens_hsa005611.30399957
21Propanoate metabolism_Homo sapiens_hsa006401.15066587
22Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.12307975
23Primary bile acid biosynthesis_Homo sapiens_hsa001201.10830909
24Complement and coagulation cascades_Homo sapiens_hsa046101.09653907
252-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.08676238
26Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.04818428
27Renin secretion_Homo sapiens_hsa049241.04469142
28Gastric acid secretion_Homo sapiens_hsa049711.02739514
29Butanoate metabolism_Homo sapiens_hsa006500.99600030
30Lysosome_Homo sapiens_hsa041420.97832760
31Bile secretion_Homo sapiens_hsa049760.97348905
32alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.96888652
33Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.95667922
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93910838
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.93808463
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.93023752
37Pyruvate metabolism_Homo sapiens_hsa006200.91823304
38beta-Alanine metabolism_Homo sapiens_hsa004100.88431312
39Fat digestion and absorption_Homo sapiens_hsa049750.87993241
40GABAergic synapse_Homo sapiens_hsa047270.87937396
41Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.84956539
42Long-term potentiation_Homo sapiens_hsa047200.84831447
43Phenylalanine metabolism_Homo sapiens_hsa003600.82148098
44Starch and sucrose metabolism_Homo sapiens_hsa005000.78524292
45Estrogen signaling pathway_Homo sapiens_hsa049150.75603598
46Vibrio cholerae infection_Homo sapiens_hsa051100.75051642
47Collecting duct acid secretion_Homo sapiens_hsa049660.74814210
48Circadian entrainment_Homo sapiens_hsa047130.70741570
49Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.67339080
50Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.66643236
51Prion diseases_Homo sapiens_hsa050200.66004520
52Aldosterone synthesis and secretion_Homo sapiens_hsa049250.64479349
53Fatty acid elongation_Homo sapiens_hsa000620.64231143
54Arginine and proline metabolism_Homo sapiens_hsa003300.62153926
55Histidine metabolism_Homo sapiens_hsa003400.61977244
56Fatty acid biosynthesis_Homo sapiens_hsa000610.61350725
57Carbon metabolism_Homo sapiens_hsa012000.59012387
58Staphylococcus aureus infection_Homo sapiens_hsa051500.58802021
59Synaptic vesicle cycle_Homo sapiens_hsa047210.58106980
60Cyanoamino acid metabolism_Homo sapiens_hsa004600.55646958
61Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.54015032
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53061826
63Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.52931785
64Biosynthesis of amino acids_Homo sapiens_hsa012300.51586664
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.51117719
66Amphetamine addiction_Homo sapiens_hsa050310.50733330
67Glutamatergic synapse_Homo sapiens_hsa047240.49141698
68Folate biosynthesis_Homo sapiens_hsa007900.46039966
69Vascular smooth muscle contraction_Homo sapiens_hsa042700.45948081
70Leukocyte transendothelial migration_Homo sapiens_hsa046700.45833024
71Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.45289621
72Peroxisome_Homo sapiens_hsa041460.42848149
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41516007
74Insulin secretion_Homo sapiens_hsa049110.41282591
75Vitamin B6 metabolism_Homo sapiens_hsa007500.40528911
76Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39971056
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.38178577
78Chemical carcinogenesis_Homo sapiens_hsa052040.37898561
79Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.37715984
80Tyrosine metabolism_Homo sapiens_hsa003500.37638431
81Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.37457598
82GnRH signaling pathway_Homo sapiens_hsa049120.36451601
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35293494
84Glucagon signaling pathway_Homo sapiens_hsa049220.35217078
85Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.34663831
86N-Glycan biosynthesis_Homo sapiens_hsa005100.34559905
87Glioma_Homo sapiens_hsa052140.34452285
88Dopaminergic synapse_Homo sapiens_hsa047280.33310463
89Cysteine and methionine metabolism_Homo sapiens_hsa002700.33275305
90Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.33060462
91Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.32999547
92Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.31983076
93ABC transporters_Homo sapiens_hsa020100.31815886
94Cholinergic synapse_Homo sapiens_hsa047250.30019974
95cAMP signaling pathway_Homo sapiens_hsa040240.28634917
96cGMP-PKG signaling pathway_Homo sapiens_hsa040220.28506438
97Olfactory transduction_Homo sapiens_hsa047400.28139446
98Melanogenesis_Homo sapiens_hsa049160.27322654
99Insulin resistance_Homo sapiens_hsa049310.26206486
100Type II diabetes mellitus_Homo sapiens_hsa049300.24838536

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