HM13

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)5.75968561
2Golgi transport vesicle coating (GO:0048200)5.75968561
3maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.55725906
4protein retention in ER lumen (GO:0006621)4.47736503
5protein maturation by protein folding (GO:0022417)4.33333284
6negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.86706250
7pinocytosis (GO:0006907)3.84083868
8barbed-end actin filament capping (GO:0051016)3.83491209
9GDP-mannose metabolic process (GO:0019673)3.81081073
10protein localization to endosome (GO:0036010)3.69047981
11oligosaccharide catabolic process (GO:0009313)3.43379963
12retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.38436300
13glycosphingolipid catabolic process (GO:0046479)3.36175609
14proline biosynthetic process (GO:0006561)3.24955410
15mannose metabolic process (GO:0006013)3.24913185
16amyloid precursor protein catabolic process (GO:0042987)3.20260687
17skin morphogenesis (GO:0043589)3.18704464
18glycolipid catabolic process (GO:0019377)3.10942142
19amino sugar catabolic process (GO:0046348)3.09942332
20hyaluronan catabolic process (GO:0030214)3.03095546
21regulation of apoptotic process involved in morphogenesis (GO:1902337)3.02618883
22pentose-phosphate shunt (GO:0006098)3.02241984
23regulation of superoxide anion generation (GO:0032928)3.00966344
24basement membrane organization (GO:0071711)2.99111203
25nuclear envelope reassembly (GO:0031468)2.94802385
26mitotic nuclear envelope reassembly (GO:0007084)2.94802385
27response to peptidoglycan (GO:0032494)2.94440556
28activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.94291794
29NIK/NF-kappaB signaling (GO:0038061)2.93652065
30apoptotic cell clearance (GO:0043277)2.91545242
31positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.89287899
32cellular copper ion homeostasis (GO:0006878)2.87851478
33positive regulation of nuclease activity (GO:0032075)2.78742863
34glucose 6-phosphate metabolic process (GO:0051156)2.78023294
35endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.77054225
36low-density lipoprotein particle clearance (GO:0034383)2.74937051
37glucose catabolic process (GO:0006007)2.73988950
38endoplasmic reticulum unfolded protein response (GO:0030968)2.73738555
39cell adhesion mediated by integrin (GO:0033627)2.73021669
40decidualization (GO:0046697)2.70407739
41positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.68099781
42UV protection (GO:0009650)2.64717789
43modulation by symbiont of host cellular process (GO:0044068)2.64491682
44positive regulation of extracellular matrix organization (GO:1903055)2.63155677
45NADPH regeneration (GO:0006740)2.60800290
46negative regulation of myeloid cell apoptotic process (GO:0033033)2.59849325
47lipopolysaccharide-mediated signaling pathway (GO:0031663)2.59438838
48adhesion of symbiont to host (GO:0044406)2.53456674
49positive regulation of monocyte chemotaxis (GO:0090026)2.53110866
50cellular response to unfolded protein (GO:0034620)2.52673293
51ER-nucleus signaling pathway (GO:0006984)2.51859244
52ceramide catabolic process (GO:0046514)2.51367831
53negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.50136754
54response to thyroid hormone (GO:0097066)2.50107104
55regulation of mammary gland epithelial cell proliferation (GO:0033599)2.47765685
56regulation of nuclease activity (GO:0032069)2.46873223
57embryo implantation (GO:0007566)2.45553102
58positive regulation of Cdc42 GTPase activity (GO:0043089)2.45416677
59regulation of extracellular matrix disassembly (GO:0010715)2.45000354
60peptidyl-proline hydroxylation (GO:0019511)2.43158860
61regulation of cholesterol homeostasis (GO:2000188)2.41480127
62negative regulation of cell size (GO:0045792)2.38830943
63modulation by virus of host process (GO:0019054)2.38613174
64protein hydroxylation (GO:0018126)2.37778975
65membrane lipid catabolic process (GO:0046466)2.37663722
66cellular response to topologically incorrect protein (GO:0035967)2.37340475
67membrane raft organization (GO:0031579)2.36885852
68response to progesterone (GO:0032570)2.34838000
69sphingolipid catabolic process (GO:0030149)2.32999075
70adhesion of symbiont to host cell (GO:0044650)2.32049182
71virion attachment to host cell (GO:0019062)2.32049182
72cellular response to virus (GO:0098586)2.30744393
73positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.28951845
74regulation of mononuclear cell migration (GO:0071675)2.28888797
75pyrimidine-containing compound salvage (GO:0008655)2.28807066
76pyrimidine nucleoside salvage (GO:0043097)2.28807066
77negative regulation of nitric oxide biosynthetic process (GO:0045019)2.27975955
78stress fiber assembly (GO:0043149)2.25682446
79regulation of membrane protein ectodomain proteolysis (GO:0051043)2.25395043
80proline metabolic process (GO:0006560)2.23312140
81regulation of cholesterol storage (GO:0010885)2.22684152
82regulation of early endosome to late endosome transport (GO:2000641)2.21875092
83positive regulation of triglyceride lipase activity (GO:0061365)2.21038453
84positive regulation of lipoprotein lipase activity (GO:0051006)2.21038453
85regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.20762194
86hemidesmosome assembly (GO:0031581)2.20602514
87regulation of monocyte chemotaxis (GO:0090025)2.20567497
88cellular response to arsenic-containing substance (GO:0071243)2.20493886
89regulation of cholesterol esterification (GO:0010872)2.18082568
90virion assembly (GO:0019068)2.18010175
91nucleotide-sugar biosynthetic process (GO:0009226)2.17803923
924-hydroxyproline metabolic process (GO:0019471)2.17375714
93regulation of monocyte differentiation (GO:0045655)2.17278033
94fibril organization (GO:0097435)2.16833599
95N-acetylneuraminate metabolic process (GO:0006054)2.16374523
96endothelial cell chemotaxis (GO:0035767)2.16130767
97pentose metabolic process (GO:0019321)2.16052716
98type B pancreatic cell proliferation (GO:0044342)2.14409494
99regulation of type I interferon-mediated signaling pathway (GO:0060338)2.13890629
100regulation of metalloenzyme activity (GO:0048552)2.13839049

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human2.92432629
2* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.70212056
3RARG_19884340_ChIP-ChIP_MEFs_Mouse2.69361263
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.43617061
5ELK3_25401928_ChIP-Seq_HUVEC_Human2.38507887
6VDR_21846776_ChIP-Seq_THP-1_Human2.35623066
7LXR_22292898_ChIP-Seq_THP-1_Human2.33954331
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.29461638
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.26635577
10ZNF263_19887448_ChIP-Seq_K562_Human2.17045374
11TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.99928767
12RACK7_27058665_Chip-Seq_MCF-7_Human1.99396282
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.97255916
14* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.84425960
15MYC_22102868_ChIP-Seq_BL_Human1.84050034
16NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.78204065
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.77152040
18ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.69150309
19RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.66209977
20TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57927357
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.56653967
22KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.56213688
23STAT6_21828071_ChIP-Seq_BEAS2B_Human1.52730914
24VDR_24763502_ChIP-Seq_THP-1_Human1.52317199
25KDM2B_26808549_Chip-Seq_SUP-B15_Human1.48864232
26TET1_21451524_ChIP-Seq_MESCs_Mouse1.47516589
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.46756951
28RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.46478552
29RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.44071051
30ATF3_27146783_Chip-Seq_COLON_Human1.42976930
31JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.40191244
32CLOCK_20551151_ChIP-Seq_293T_Human1.38400254
33HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.37728281
34IRF8_22096565_ChIP-ChIP_GC-B_Human1.37569106
35CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.36875381
36CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.35011080
37HIF1A_21447827_ChIP-Seq_MCF-7_Human1.34390542
38TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.34354618
39KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.33726104
40NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.33509880
41MYC_18358816_ChIP-ChIP_MESCs_Mouse1.33125611
42SRY_22984422_ChIP-ChIP_TESTIS_Rat1.32297890
43KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.31381857
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.30796836
45MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.30059390
46P68_20966046_ChIP-Seq_HELA_Human1.29939920
47EGR1_19374776_ChIP-ChIP_THP-1_Human1.28775286
48PPARA_22158963_ChIP-Seq_LIVER_Mouse1.28752450
49UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.28412883
50BRD4_27068464_Chip-Seq_AML-cells_Mouse1.28084774
51ELF1_20517297_ChIP-Seq_JURKAT_Human1.28018124
52RXR_22158963_ChIP-Seq_LIVER_Mouse1.27967207
53KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.25255291
54BP1_19119308_ChIP-ChIP_Hs578T_Human1.23555958
55TCF7_22412390_ChIP-Seq_EML_Mouse1.23471358
56CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.21834178
57SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.21589778
58TFEB_21752829_ChIP-Seq_HELA_Human1.21555449
59CTCF_27219007_Chip-Seq_ERYTHROID_Human1.21306286
60MYC_18555785_ChIP-Seq_MESCs_Mouse1.21248237
61PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.19748615
62TP53_22127205_ChIP-Seq_IMR90_Human1.19738669
63FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.19565747
64KDM2B_26808549_Chip-Seq_DND41_Human1.19314288
65STAT3_1855785_ChIP-Seq_MESCs_Mouse1.19198508
66STAT4_19710469_ChIP-ChIP_TH1__Mouse1.18485165
67* MAF_26560356_Chip-Seq_TH1_Human1.18468265
68SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.17213580
69SA1_27219007_Chip-Seq_ERYTHROID_Human1.15718773
70TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.14682794
71RUNX1_22412390_ChIP-Seq_EML_Mouse1.14517264
72SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.14482997
73* BCOR_27268052_Chip-Seq_Bcells_Human1.13041474
74KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12434920
75MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.12398381
76MAF_26560356_Chip-Seq_TH2_Human1.11270117
77TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.11192708
78PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.11133859
79CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.11054434
80MYB_21317192_ChIP-Seq_ERMYB_Mouse1.09467689
81SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08503214
82* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.08264101
83P300_27058665_Chip-Seq_ZR-75-30cells_Human1.07825753
84SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.07524545
85SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.06954813
86GATA1_22383799_ChIP-Seq_G1ME_Mouse1.06922901
87DCP1A_22483619_ChIP-Seq_HELA_Human1.05812998
88* BCL6_27268052_Chip-Seq_Bcells_Human1.05221051
89XRN2_22483619_ChIP-Seq_HELA_Human1.03766046
90MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.03630398
91ZFX_18555785_ChIP-Seq_MESCs_Mouse1.03312144
92CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.03021353
93* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02940092
94UTX_26944678_Chip-Seq_JUKART_Human1.02649945
95E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.02365395
96NCOR1_26117541_ChIP-Seq_K562_Human1.02340062
97SMC4_20622854_ChIP-Seq_HELA_Human1.02220774
98IRF8_21731497_ChIP-ChIP_J774_Mouse1.02139183
99* GABP_19822575_ChIP-Seq_HepG2_Human1.02103715
100CTCF_18555785_ChIP-Seq_MESCs_Mouse1.02014570

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology4.70307727
2MP0009840_abnormal_foam_cell4.00942393
3MP0008438_abnormal_cutaneous_collagen3.33039746
4MP0003191_abnormal_cellular_cholesterol2.97423959
5MP0005451_abnormal_body_composition2.90495867
6MP0003705_abnormal_hypodermis_morpholog2.74144543
7MP0003172_abnormal_lysosome_physiology2.53412747
8MP0003436_decreased_susceptibility_to2.53125343
9MP0002877_abnormal_melanocyte_morpholog2.42796068
10MP0005257_abnormal_intraocular_pressure2.20065797
11MP0008260_abnormal_autophagy2.16628853
12MP0003566_abnormal_cell_adhesion2.15121496
13MP0006082_CNS_inflammation1.95986103
14MP0000858_altered_metastatic_potential1.89395077
15MP0003806_abnormal_nucleotide_metabolis1.88508138
16MP0004272_abnormal_basement_membrane1.82223569
17MP0003303_peritoneal_inflammation1.81912759
18MP0000604_amyloidosis1.74076137
19MP0009278_abnormal_bone_marrow1.72670855
20MP0005023_abnormal_wound_healing1.70093045
21MP0003075_altered_response_to1.70031711
22MP0004858_abnormal_nervous_system1.69027507
23MP0002148_abnormal_hypersensitivity_rea1.68701259
24MP0003453_abnormal_keratinocyte_physiol1.67574924
25MP0000343_altered_response_to1.65377154
26MP0004510_myositis1.61300741
27MP0004233_abnormal_muscle_weight1.60431264
28MP0002419_abnormal_innate_immunity1.55493353
29MP0001533_abnormal_skeleton_physiology1.55211723
30MP0009333_abnormal_splenocyte_physiolog1.50510445
31MP0003329_amyloid_beta_deposits1.50287165
32MP0003300_gastrointestinal_ulcer1.49269115
33MP0005076_abnormal_cell_differentiation1.46958396
34MP0001853_heart_inflammation1.46342385
35MP0003279_aneurysm1.46041240
36MP0002998_abnormal_bone_remodeling1.38500196
37MP0005025_abnormal_response_to1.36110833
38MP0002139_abnormal_hepatobiliary_system1.35884653
39MP0004947_skin_inflammation1.35447741
40MP0002060_abnormal_skin_morphology1.31035386
41MP0001849_ear_inflammation1.27116041
42MP0005464_abnormal_platelet_physiology1.25645846
43MP0003091_abnormal_cell_migration1.25613924
44MP0009785_altered_susceptibility_to1.25471525
45MP0000685_abnormal_immune_system1.25462800
46MP0005165_increased_susceptibility_to1.19538333
47MP0001835_abnormal_antigen_presentation1.16650511
48MP0001542_abnormal_bone_strength1.11839655
49MP0005000_abnormal_immune_tolerance1.10520190
50MP0003448_altered_tumor_morphology1.10070563
51MP0002254_reproductive_system_inflammat1.09671454
52MP0008469_abnormal_protein_level1.09076291
53MP0002796_impaired_skin_barrier1.08211738
54MP0001873_stomach_inflammation1.06894859
55MP0001958_emphysema1.05003789
56MP0005390_skeleton_phenotype1.01508612
57MP0002089_abnormal_postnatal_growth/wei1.01360241
58MP0005164_abnormal_response_to1.01000895
59MP0005360_urolithiasis1.00462096
60MP0005501_abnormal_skin_physiology0.99809830
61MP0006054_spinal_hemorrhage0.98948499
62MP0001845_abnormal_inflammatory_respons0.98898174
63MP0010234_abnormal_vibrissa_follicle0.98635402
64MP0001216_abnormal_epidermal_layer0.97834447
65MP0002452_abnormal_antigen_presenting0.97361976
66MP0005387_immune_system_phenotype0.96988391
67MP0001790_abnormal_immune_system0.96988391
68MP0001243_abnormal_dermal_layer0.95132095
69MP0004264_abnormal_extraembryonic_tissu0.90855390
70MP0001545_abnormal_hematopoietic_system0.89874727
71MP0005397_hematopoietic_system_phenotyp0.89874727
72MP0010155_abnormal_intestine_physiology0.89484338
73MP0003950_abnormal_plasma_membrane0.88658488
74MP0005408_hypopigmentation0.88552311
75MP0002723_abnormal_immune_serum0.88200685
76MP0003795_abnormal_bone_structure0.88194649
77MP0002405_respiratory_system_inflammati0.84496284
78MP0004185_abnormal_adipocyte_glucose0.82162053
79MP0005365_abnormal_bile_salt0.81404977
80MP0001881_abnormal_mammary_gland0.81359834
81MP0000490_abnormal_crypts_of0.81182856
82MP0001819_abnormal_immune_cell0.80513593
83MP0002420_abnormal_adaptive_immunity0.80154113
84MP0000767_abnormal_smooth_muscle0.79783282
85MP0000681_abnormal_thyroid_gland0.79279624
86MP0005166_decreased_susceptibility_to0.78607631
87MP0002933_joint_inflammation0.78584027
88MP0000003_abnormal_adipose_tissue0.78316562
89MP0005621_abnormal_cell_physiology0.77097623
90MP0005310_abnormal_salivary_gland0.76706590
91MP0009764_decreased_sensitivity_to0.74824886
92MP0009931_abnormal_skin_appearance0.74405219
93MP0002896_abnormal_bone_mineralization0.74223089
94MP0000609_abnormal_liver_physiology0.74160353
95MP0003656_abnormal_erythrocyte_physiolo0.72604499
96MP0000371_diluted_coat_color0.67902807
97MP0000750_abnormal_muscle_regeneration0.67609254
98MP0005508_abnormal_skeleton_morphology0.66646433
99MP0005584_abnormal_enzyme/coenzyme_acti0.66029038
100MP0004808_abnormal_hematopoietic_stem0.65616288

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of liposaccharide metabolism (HP:0010968)5.51836333
2Abnormality of glycosphingolipid metabolism (HP:0004343)5.51836333
3Abnormality of glycolipid metabolism (HP:0010969)5.51836333
4Vertebral compression fractures (HP:0002953)4.29273904
5Increased cerebral lipofuscin (HP:0011813)4.19854076
6Premature rupture of membranes (HP:0001788)4.13477357
7Dysostosis multiplex (HP:0000943)3.92909921
8Increased neuronal autofluorescent lipopigment (HP:0002074)3.83464425
9Vacuolated lymphocytes (HP:0001922)3.74620432
10Abnormality of mucopolysaccharide metabolism (HP:0011020)3.20655009
11Abnormality of polysaccharide metabolism (HP:0011012)3.20655009
12Abnormality of glycosaminoglycan metabolism (HP:0004371)3.20655009
13Protrusio acetabuli (HP:0003179)3.13161969
14Loss of speech (HP:0002371)3.09835048
15Urinary glycosaminoglycan excretion (HP:0003541)3.07582722
16Mucopolysacchariduria (HP:0008155)3.07582722
17Achilles tendon contracture (HP:0001771)3.04162971
18Abnormality of the Achilles tendon (HP:0005109)2.83531874
19Abnormality of macrophages (HP:0004311)2.82625842
20Axonal loss (HP:0003447)2.77143102
21J-shaped sella turcica (HP:0002680)2.74986627
22Systemic lupus erythematosus (HP:0002725)2.70241500
23Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.67412997
24Nuclear cataract (HP:0100018)2.59040278
25Upper limb amyotrophy (HP:0009129)2.58510926
26Distal upper limb amyotrophy (HP:0007149)2.58510926
27Cervical subluxation (HP:0003308)2.57649106
28Increased serum ferritin (HP:0003281)2.54658704
29Amyloidosis (HP:0011034)2.50170207
30Hyperacusis (HP:0010780)2.40383683
31Myocardial infarction (HP:0001658)2.32686643
32Deep venous thrombosis (HP:0002625)2.31876049
33Neurofibrillary tangles (HP:0002185)2.30396696
34Prolonged neonatal jaundice (HP:0006579)2.29609410
35Short nail (HP:0001799)2.28716876
36Elbow flexion contracture (HP:0002987)2.28135806
37Trismus (HP:0000211)2.23017630
38Abnormality of the distal phalanges of the toes (HP:0010182)2.20805847
39Hand muscle atrophy (HP:0009130)2.20632035
40Rough bone trabeculation (HP:0100670)2.20046886
41Atrophic scars (HP:0001075)2.18973356
42Distal lower limb muscle weakness (HP:0009053)2.15484789
43Joint stiffness (HP:0001387)2.15468090
44Cerebral inclusion bodies (HP:0100314)2.13183228
45Cerebral aneurysm (HP:0004944)2.11406254
46Osteolytic defects of the hand bones (HP:0009699)2.10579507
47Osteolytic defects of the phalanges of the hand (HP:0009771)2.10579507
48Blue sclerae (HP:0000592)2.05946450
49Xanthomatosis (HP:0000991)2.05421623
50Purpura (HP:0000979)2.05182959
51Fragile skin (HP:0001030)2.04456626
52Generalized amyotrophy (HP:0003700)2.01074413
53Hemorrhage of the eye (HP:0011885)1.97958725
54Hepatosplenomegaly (HP:0001433)1.96173479
55Pathologic fracture (HP:0002756)1.95349257
56Bone pain (HP:0002653)1.93339813
57Progressive neurologic deterioration (HP:0002344)1.91208254
58Ulnar bowing (HP:0003031)1.90676203
59Abnormal trabecular bone morphology (HP:0100671)1.90378238
60Upper motor neuron abnormality (HP:0002127)1.89612943
61Interstitial pulmonary disease (HP:0006530)1.89380304
62Nonimmune hydrops fetalis (HP:0001790)1.88278041
63Spondylolisthesis (HP:0003302)1.87855204
64Cholecystitis (HP:0001082)1.86925485
65Abnormal gallbladder physiology (HP:0012438)1.86925485
66Vascular calcification (HP:0004934)1.85604209
67Cardiomegaly (HP:0001640)1.85121653
68Distal lower limb amyotrophy (HP:0008944)1.84850860
69Broad face (HP:0000283)1.84270921
70Abnormality of complement system (HP:0005339)1.83541165
71Cardiovascular calcification (HP:0011915)1.83396672
72Natal tooth (HP:0000695)1.82244045
73Ragged-red muscle fibers (HP:0003200)1.81180830
74Thin bony cortex (HP:0002753)1.80847274
75Thoracic kyphosis (HP:0002942)1.80551808
76Hypokinesia (HP:0002375)1.79117453
77Hypertriglyceridemia (HP:0002155)1.78316021
78Wormian bones (HP:0002645)1.75857812
79Recurrent abscess formation (HP:0002722)1.74036504
80Neuronal loss in central nervous system (HP:0002529)1.73931562
81Hypertensive crisis (HP:0100735)1.73884715
82Abnormality of iron homeostasis (HP:0011031)1.72691696
83Flat acetabular roof (HP:0003180)1.72466813
84Ankle contracture (HP:0006466)1.70562021
85Abnormality of the thoracic spine (HP:0100711)1.70099785
86Increased connective tissue (HP:0009025)1.64461161
87Reduced subcutaneous adipose tissue (HP:0003758)1.63107493
88Fasciculations (HP:0002380)1.62182101
89Petechiae (HP:0000967)1.61622971
90Mitral stenosis (HP:0001718)1.61228461
91Elevated alkaline phosphatase (HP:0003155)1.60673633
92Entropion (HP:0000621)1.59768116
93Long toe (HP:0010511)1.59567120
94Abnormality of the nasal mucosa (HP:0000433)1.58814454
95Progressive muscle weakness (HP:0003323)1.58814440
96Premature skin wrinkling (HP:0100678)1.57324204
97Biconcave vertebral bodies (HP:0004586)1.56782471
98Bladder diverticulum (HP:0000015)1.56374531
99Ovoid vertebral bodies (HP:0003300)1.55717640
100Coxa vara (HP:0002812)1.55696131

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.41860175
2NME24.28520382
3IRAK33.94474178
4TRIB33.52884362
5TESK23.19234749
6TESK13.01272976
7EPHA22.93617808
8ICK2.36050569
9SMG12.33108284
10PIM22.24954782
11TAOK22.06468127
12SIK12.04271618
13LIMK11.91276423
14MAP3K111.88794197
15PAK41.88473715
16MAP3K31.83528035
17ARAF1.62599880
18MST1R1.56913810
19LMTK21.56549412
20TBK11.51901387
21PRPF4B1.44775988
22MAPKAPK31.43721265
23MAP2K31.43659964
24TGFBR21.42910815
25CDK121.40833087
26VRK21.37124530
27SCYL21.32567525
28PTK21.31039457
29ABL21.27820807
30RIPK11.18135727
31PKN21.16023886
32DDR21.15210561
33PDGFRA1.09611894
34PRKD21.09330272
35MOS1.07077440
36FGFR40.99442613
37EPHB10.98831819
38TAOK10.96196967
39TYK20.92022045
40MAP3K140.91757839
41CDC42BPA0.91497899
42EEF2K0.90482815
43BCKDK0.89765038
44TTN0.89582386
45KDR0.87660135
46MAPK110.87378139
47IRAK40.83318807
48ZAP700.81980772
49ILK0.78599000
50PTK60.77086620
51BLK0.74288366
52PDPK10.73250104
53MTOR0.73181914
54MAP3K130.71907629
55GRK70.71246109
56STK100.71080054
57MET0.69038768
58IKBKB0.68207319
59PDK20.66914651
60MAP3K10.66156104
61MAP3K80.61021196
62DAPK10.59619644
63PBK0.56901278
64BMX0.56065465
65LRRK20.56040548
66MAPKAPK20.54805339
67CDK70.54656445
68MAP4K10.54566141
69MATK0.54090192
70ERBB40.51720836
71JAK30.50270486
72RPS6KA20.49914224
73RPS6KB20.49644665
74SIK30.49187473
75IRAK20.48633185
76MAP2K20.43528356
77CLK10.42968731
78BRAF0.42711206
79CHUK0.42417878
80PAK20.41940449
81PRKG20.41270379
82GRK60.41027130
83CSK0.40696727
84NTRK10.40466139
85CDK80.40165000
86AURKA0.39899788
87EPHB20.38893914
88PAK10.37572805
89STK380.37485179
90HIPK20.36672197
91DAPK30.35941135
92MYLK0.34618392
93CSF1R0.34383742
94BUB10.34288426
95FGR0.34184321
96RPS6KC10.33770441
97RPS6KL10.33770441
98CAMK1D0.33657827
99CDK40.33515820
100IKBKE0.31828087

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005115.00262919
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.48471312
3Lysosome_Homo sapiens_hsa041423.26350549
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.79794469
5Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.36167983
6Fructose and mannose metabolism_Homo sapiens_hsa000512.26421453
7Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.08725790
8Bladder cancer_Homo sapiens_hsa052192.07904682
9Vibrio cholerae infection_Homo sapiens_hsa051101.99809749
10Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.99070927
11Galactose metabolism_Homo sapiens_hsa000521.98500792
12Sulfur relay system_Homo sapiens_hsa041221.94216029
13N-Glycan biosynthesis_Homo sapiens_hsa005101.81002210
14Pentose phosphate pathway_Homo sapiens_hsa000301.75585002
15Cyanoamino acid metabolism_Homo sapiens_hsa004601.63962822
16Prion diseases_Homo sapiens_hsa050201.58047896
17Toll-like receptor signaling pathway_Homo sapiens_hsa046201.50316648
18Osteoclast differentiation_Homo sapiens_hsa043801.33612729
19TNF signaling pathway_Homo sapiens_hsa046681.31393837
20NF-kappa B signaling pathway_Homo sapiens_hsa040641.25640069
21Rheumatoid arthritis_Homo sapiens_hsa053231.24792181
22Salmonella infection_Homo sapiens_hsa051321.24581195
23Biosynthesis of amino acids_Homo sapiens_hsa012301.23793831
24Shigellosis_Homo sapiens_hsa051311.21260865
25Complement and coagulation cascades_Homo sapiens_hsa046101.20890805
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.18487760
27Pertussis_Homo sapiens_hsa051331.16249100
28Acute myeloid leukemia_Homo sapiens_hsa052211.15358910
29Apoptosis_Homo sapiens_hsa042101.14205280
30Proteasome_Homo sapiens_hsa030501.11807926
31Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.09606147
32Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.09307713
33Central carbon metabolism in cancer_Homo sapiens_hsa052301.09187028
34Sphingolipid metabolism_Homo sapiens_hsa006001.06426382
35Phagosome_Homo sapiens_hsa041451.06106704
36Legionellosis_Homo sapiens_hsa051341.02949162
37Tuberculosis_Homo sapiens_hsa051521.02666419
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02170154
39RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.00510631
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99732594
41Hepatitis C_Homo sapiens_hsa051600.98303575
42Sulfur metabolism_Homo sapiens_hsa009200.98182226
43Chronic myeloid leukemia_Homo sapiens_hsa052200.97991187
44Staphylococcus aureus infection_Homo sapiens_hsa051500.97068861
45Antigen processing and presentation_Homo sapiens_hsa046120.95737545
46Toxoplasmosis_Homo sapiens_hsa051450.94878523
47Leishmaniasis_Homo sapiens_hsa051400.94831738
48Glutathione metabolism_Homo sapiens_hsa004800.93696319
49Malaria_Homo sapiens_hsa051440.93340364
50Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.91167214
51Influenza A_Homo sapiens_hsa051640.88187078
52Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.85051763
53Amoebiasis_Homo sapiens_hsa051460.82476553
54Small cell lung cancer_Homo sapiens_hsa052220.79238144
55Hepatitis B_Homo sapiens_hsa051610.78831830
56Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.78067414
57Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.77657150
58Pyrimidine metabolism_Homo sapiens_hsa002400.77314569
59Pancreatic cancer_Homo sapiens_hsa052120.77048356
60Carbon metabolism_Homo sapiens_hsa012000.76541684
61Endocytosis_Homo sapiens_hsa041440.76024758
62Fatty acid elongation_Homo sapiens_hsa000620.73848593
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.70944006
64Notch signaling pathway_Homo sapiens_hsa043300.70646650
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66259186
66VEGF signaling pathway_Homo sapiens_hsa043700.64735643
67Herpes simplex infection_Homo sapiens_hsa051680.61423768
68Leukocyte transendothelial migration_Homo sapiens_hsa046700.60796287
69Proteoglycans in cancer_Homo sapiens_hsa052050.60101178
70Non-small cell lung cancer_Homo sapiens_hsa052230.59867948
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.59173105
72Epstein-Barr virus infection_Homo sapiens_hsa051690.58836643
73ECM-receptor interaction_Homo sapiens_hsa045120.58309962
74Focal adhesion_Homo sapiens_hsa045100.57338226
75Measles_Homo sapiens_hsa051620.56351587
76Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.56171690
77Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.53297949
78Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.52989414
79Base excision repair_Homo sapiens_hsa034100.52962867
80Mineral absorption_Homo sapiens_hsa049780.52051299
81Drug metabolism - other enzymes_Homo sapiens_hsa009830.51853031
82Adipocytokine signaling pathway_Homo sapiens_hsa049200.49939911
83Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.49687237
84DNA replication_Homo sapiens_hsa030300.48567450
85Collecting duct acid secretion_Homo sapiens_hsa049660.46012442
86Viral myocarditis_Homo sapiens_hsa054160.44634618
87Hematopoietic cell lineage_Homo sapiens_hsa046400.44611473
88Phenylalanine metabolism_Homo sapiens_hsa003600.44235025
89Folate biosynthesis_Homo sapiens_hsa007900.44203931
90HTLV-I infection_Homo sapiens_hsa051660.44014266
91PPAR signaling pathway_Homo sapiens_hsa033200.41644733
92Renin-angiotensin system_Homo sapiens_hsa046140.40765977
93Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.39604184
94Thyroid cancer_Homo sapiens_hsa052160.39107688
95HIF-1 signaling pathway_Homo sapiens_hsa040660.38031750
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.37367112
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.37167425
98African trypanosomiasis_Homo sapiens_hsa051430.37127700
99SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36932802
100Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.36304954

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »