C6ORF120

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 conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1Golgi transport vesicle coating (GO:0048200)4.89136648
2COPI coating of Golgi vesicle (GO:0048205)4.89136648
3nuclear pore complex assembly (GO:0051292)4.67562274
4COPII vesicle coating (GO:0048208)4.27838172
5cellular protein complex localization (GO:0034629)4.05735840
6nuclear pore organization (GO:0006999)3.91948667
7protein localization to endosome (GO:0036010)3.76044181
8proline biosynthetic process (GO:0006561)3.68548868
9protein retention in ER lumen (GO:0006621)3.66927013
10maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.60097058
11embryonic process involved in female pregnancy (GO:0060136)3.51229710
12regulation of translational fidelity (GO:0006450)3.40593390
13DNA unwinding involved in DNA replication (GO:0006268)3.40199198
14pinocytosis (GO:0006907)3.38364050
15very-low-density lipoprotein particle assembly (GO:0034379)3.37400380
16basement membrane organization (GO:0071711)3.32642228
17protein complex localization (GO:0031503)3.23278761
18regulation of early endosome to late endosome transport (GO:2000641)3.19620456
19negative regulation of fibrinolysis (GO:0051918)3.18908672
20G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.05700066
21focal adhesion assembly (GO:0048041)3.05161790
22cell-substrate adherens junction assembly (GO:0007045)3.05161790
23pore complex assembly (GO:0046931)3.04972232
24adherens junction assembly (GO:0034333)3.00902364
25vesicle coating (GO:0006901)3.00150604
26alpha-linolenic acid metabolic process (GO:0036109)2.98399761
27regulation of RNA export from nucleus (GO:0046831)2.98304045
28paraxial mesoderm development (GO:0048339)2.97698695
29mitotic chromosome condensation (GO:0007076)2.96916019
30protein carboxylation (GO:0018214)2.95750710
31peptidyl-glutamic acid carboxylation (GO:0017187)2.95750710
32negative regulation of protein localization to plasma membrane (GO:1903077)2.94452563
33retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.94360956
34nucleotide-sugar biosynthetic process (GO:0009226)2.89278024
35regulation of mitotic spindle organization (GO:0060236)2.78025213
36cell adhesion mediated by integrin (GO:0033627)2.75958360
37plasma lipoprotein particle assembly (GO:0034377)2.74234912
38peptidyl-proline hydroxylation (GO:0019511)2.73881002
39protein-lipid complex assembly (GO:0065005)2.73038060
40protein hydroxylation (GO:0018126)2.72990687
41histone H2B ubiquitination (GO:0033523)2.70175750
42regulation of nucleobase-containing compound transport (GO:0032239)2.68272082
43stress fiber assembly (GO:0043149)2.68127471
44activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.67310804
45skin morphogenesis (GO:0043589)2.66911666
46positive regulation of nuclease activity (GO:0032075)2.63396112
47negative regulation of fatty acid transport (GO:2000192)2.62402064
48regulation of mammary gland epithelial cell proliferation (GO:0033599)2.61592803
49regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.61387261
50regulation of fibrinolysis (GO:0051917)2.61362238
51regulation of glucose import in response to insulin stimulus (GO:2001273)2.61028779
52protein localization to chromosome, centromeric region (GO:0071459)2.58810819
53endoplasmic reticulum unfolded protein response (GO:0030968)2.55985996
54ribosome assembly (GO:0042255)2.55631002
55proline metabolic process (GO:0006560)2.55501670
56hyaluronan catabolic process (GO:0030214)2.52683188
57formation of translation preinitiation complex (GO:0001731)2.52559207
58cell-substrate junction assembly (GO:0007044)2.52268708
59ER-nucleus signaling pathway (GO:0006984)2.50425146
60chondrocyte proliferation (GO:0035988)2.49339649
61endodermal cell differentiation (GO:0035987)2.49319939
62planar cell polarity pathway involved in neural tube closure (GO:0090179)2.43898922
63apoptotic cell clearance (GO:0043277)2.43513661
644-hydroxyproline metabolic process (GO:0019471)2.42405177
65low-density lipoprotein particle clearance (GO:0034383)2.41089628
66regulation of NFAT protein import into nucleus (GO:0051532)2.36983572
67regulation of plasminogen activation (GO:0010755)2.36774401
68regulation of nuclease activity (GO:0032069)2.35632014
69regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.34951070
70regulation of chromatin binding (GO:0035561)2.34558670
71collagen fibril organization (GO:0030199)2.34074387
72negative regulation of DNA repair (GO:0045738)2.33829621
73membrane protein ectodomain proteolysis (GO:0006509)2.33342882
74endothelial cell morphogenesis (GO:0001886)2.33275772
75protein export from nucleus (GO:0006611)2.33115140
76cellular response to unfolded protein (GO:0034620)2.33108743
77sister chromatid segregation (GO:0000819)2.33101017
78response to laminar fluid shear stress (GO:0034616)2.32980294
79positive regulation of extracellular matrix organization (GO:1903055)2.32885398
80negative regulation of establishment of protein localization to plasma membrane (GO:0090005)2.31162721
81NADPH regeneration (GO:0006740)2.30700086
82peptidyl-asparagine modification (GO:0018196)2.30547407
83protein N-linked glycosylation via asparagine (GO:0018279)2.29508182
84heterochromatin organization (GO:0070828)2.29386305
85negative regulation of anoikis (GO:2000811)2.27806932
86pentose-phosphate shunt (GO:0006098)2.26618047
87mitotic metaphase plate congression (GO:0007080)2.25359958
88mitotic cytokinesis (GO:0000281)2.25272071
89DNA duplex unwinding (GO:0032508)2.23540209
90positive regulation of endothelial cell apoptotic process (GO:2000353)2.22870833
91ventricular cardiac muscle cell development (GO:0055015)2.21917460
92regulation of cholesterol homeostasis (GO:2000188)2.21824031
93pathway-restricted SMAD protein phosphorylation (GO:0060389)2.20695057
94tRNA aminoacylation for protein translation (GO:0006418)2.18474639
95embryonic skeletal joint morphogenesis (GO:0060272)2.18191152
96spliceosomal tri-snRNP complex assembly (GO:0000244)2.18154931
97mitotic sister chromatid segregation (GO:0000070)2.17498148
98regulation of translational termination (GO:0006449)2.16357658
99positive regulation of SMAD protein import into nucleus (GO:0060391)2.15221822
100mitochondrial DNA metabolic process (GO:0032042)2.14859405

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.44907125
2NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.71992319
3EGR1_19374776_ChIP-ChIP_THP-1_Human2.77563273
4MYC_18555785_ChIP-Seq_MESCs_Mouse2.74673603
5FOXM1_23109430_ChIP-Seq_U2OS_Human2.73900886
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.73075874
7CLOCK_20551151_ChIP-Seq_293T_Human2.57496788
8ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.51057549
9AR_21909140_ChIP-Seq_LNCAP_Human2.46039781
10TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.38656737
11MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.30272817
12ZFX_18555785_ChIP-Seq_MESCs_Mouse2.27985058
13NELFA_20434984_ChIP-Seq_ESCs_Mouse2.20542671
14TP63_17297297_ChIP-ChIP_HaCaT_Human2.16495578
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.99287225
16RARG_19884340_ChIP-ChIP_MEFs_Mouse1.98980971
17ZNF263_19887448_ChIP-Seq_K562_Human1.96978356
18PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.92962732
19MYC_19030024_ChIP-ChIP_MESCs_Mouse1.90548763
20POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.90020748
21MYC_19079543_ChIP-ChIP_MESCs_Mouse1.89512792
22CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.89290055
23PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.85860781
24DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.82420451
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.79140164
26WT1_19549856_ChIP-ChIP_CCG9911_Human1.77588653
27MYCN_18555785_ChIP-Seq_MESCs_Mouse1.76541833
28XRN2_22483619_ChIP-Seq_HELA_Human1.75959308
29KLF4_18555785_ChIP-Seq_MESCs_Mouse1.74694639
30POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.73454313
31MYC_18358816_ChIP-ChIP_MESCs_Mouse1.72781691
32TFEB_21752829_ChIP-Seq_HELA_Human1.71384495
33NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.68583365
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.67788329
35KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.66564156
36CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.65359209
37MYC_22102868_ChIP-Seq_BL_Human1.65342057
38DCP1A_22483619_ChIP-Seq_HELA_Human1.63719951
39SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.62801677
40KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.59328661
41TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.57551957
42RBPJ_22232070_ChIP-Seq_NCS_Mouse1.57299996
43TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56550408
44CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.56141322
45E2F4_17652178_ChIP-ChIP_JURKAT_Human1.56132422
46CREB1_15753290_ChIP-ChIP_HEK293T_Human1.56104876
47* VDR_21846776_ChIP-Seq_THP-1_Human1.51432597
48ELK3_25401928_ChIP-Seq_HUVEC_Human1.50205973
49CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.46508026
50WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.44773592
51E2F1_18555785_ChIP-Seq_MESCs_Mouse1.44107285
52ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.43692204
53SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.42261069
54TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.41856751
55CHD1_26751641_Chip-Seq_LNCaP_Human1.40847064
56TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.40533858
57CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.40371035
58RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.38358892
59CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.37732264
60STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.37173298
61PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36838739
62THAP11_20581084_ChIP-Seq_MESCs_Mouse1.34863571
63UBF1/2_26484160_Chip-Seq_HMECs_Human1.34796511
64NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.31331697
65SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.30475598
66SALL4_18804426_ChIP-ChIP_XEN_Mouse1.30032313
67NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.29898390
68MYB_21317192_ChIP-Seq_ERMYB_Mouse1.29470947
69STAT3_1855785_ChIP-Seq_MESCs_Mouse1.27712931
70HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.27450529
71PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.26813506
72DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.26577905
73NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.26445162
74P300_27058665_Chip-Seq_ZR-75-30cells_Human1.26383417
75RXR_22158963_ChIP-Seq_LIVER_Mouse1.25638323
76KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.22112601
77EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.22056271
78ATF3_27146783_Chip-Seq_COLON_Human1.21675297
79ERG_20887958_ChIP-Seq_HPC-7_Mouse1.20347799
80KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.20002272
81TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.19787078
82RACK7_27058665_Chip-Seq_MCF-7_Human1.19347313
83BRD4_27068464_Chip-Seq_AML-cells_Mouse1.19253103
84GATA4_21415370_ChIP-Seq_HL-1_Mouse1.17789239
85E2F1_21310950_ChIP-Seq_MCF-7_Human1.17662285
86HIF1A_21447827_ChIP-Seq_MCF-7_Human1.17505259
87NANOG_21062744_ChIP-ChIP_HESCs_Human1.13879273
88TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.11345871
89GABP_19822575_ChIP-Seq_HepG2_Human1.08463593
90PPARA_22158963_ChIP-Seq_LIVER_Mouse1.07433979
91FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.07204964
92NANOG_18555785_ChIP-Seq_MESCs_Mouse1.07118755
93SOX17_20123909_ChIP-Seq_XEN_Mouse1.06768612
94ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.06539859
95SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.05285240
96SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.04946853
97KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.04529705
98TTF2_22483619_ChIP-Seq_HELA_Human1.03821532
99TCF7_22412390_ChIP-Seq_EML_Mouse1.01588197
100YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01314847

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen4.77892327
2MP0005451_abnormal_body_composition3.97606564
3MP0003705_abnormal_hypodermis_morpholog3.92601257
4MP0005623_abnormal_meninges_morphology2.87145236
5MP0004272_abnormal_basement_membrane2.85910591
6MP0010352_gastrointestinal_tract_polyps2.81733051
7MP0003941_abnormal_skin_development2.71171278
8MP0004233_abnormal_muscle_weight2.44895682
9MP0003566_abnormal_cell_adhesion2.27722741
10MP0006054_spinal_hemorrhage2.21507068
11MP0009384_cardiac_valve_regurgitation2.01475843
12MP0003111_abnormal_nucleus_morphology1.94118213
13MP0003091_abnormal_cell_migration1.91746034
14MP0002877_abnormal_melanocyte_morpholog1.88785766
15MP0001915_intracranial_hemorrhage1.86730106
16MP0005058_abnormal_lysosome_morphology1.81608844
17MP0004957_abnormal_blastocyst_morpholog1.73501647
18MP0005275_abnormal_skin_tensile1.73430612
19MP0003300_gastrointestinal_ulcer1.72579446
20MP0005076_abnormal_cell_differentiation1.53872331
21MP0001849_ear_inflammation1.53187869
22MP0001730_embryonic_growth_arrest1.50381515
23MP0003077_abnormal_cell_cycle1.50304155
24MP0009840_abnormal_foam_cell1.49834358
25MP0008260_abnormal_autophagy1.48905068
26MP0002139_abnormal_hepatobiliary_system1.46465917
27MP0003656_abnormal_erythrocyte_physiolo1.43974229
28MP0005257_abnormal_intraocular_pressure1.43860576
29MP0004185_abnormal_adipocyte_glucose1.43802686
30MP0010368_abnormal_lymphatic_system1.41446826
31MP0008057_abnormal_DNA_replication1.39999552
32MP0001958_emphysema1.39367662
33MP0000767_abnormal_smooth_muscle1.38159119
34MP0003221_abnormal_cardiomyocyte_apopto1.36763975
35MP0003693_abnormal_embryo_hatching1.36540402
36MP0008932_abnormal_embryonic_tissue1.35924235
37MP0000350_abnormal_cell_proliferation1.35824038
38MP0001661_extended_life_span1.33793039
39MP0003868_abnormal_feces_composition1.27780998
40MP0008007_abnormal_cellular_replicative1.25018505
41MP0003279_aneurysm1.23288888
42MP0000013_abnormal_adipose_tissue1.20746839
43MP0002086_abnormal_extraembryonic_tissu1.20077531
44MP0000733_abnormal_muscle_development1.19542297
45MP0001672_abnormal_embryogenesis/_devel1.18343937
46MP0005380_embryogenesis_phenotype1.18343937
47MP0010234_abnormal_vibrissa_follicle1.17568488
48MP0000003_abnormal_adipose_tissue1.16436925
49MP0003984_embryonic_growth_retardation1.15735992
50MP0002060_abnormal_skin_morphology1.14818647
51MP0000428_abnormal_craniofacial_morphol1.13591652
52MP0000751_myopathy1.13521783
53MP0005621_abnormal_cell_physiology1.12375338
54MP0000747_muscle_weakness1.11101896
55MP0002896_abnormal_bone_mineralization1.10981454
56MP0002088_abnormal_embryonic_growth/wei1.10650650
57MP0000858_altered_metastatic_potential1.10174587
58MP0005503_abnormal_tendon_morphology1.09888881
59MP0010030_abnormal_orbit_morphology1.09284024
60MP0003172_abnormal_lysosome_physiology1.09171966
61MP0010094_abnormal_chromosome_stability1.07642660
62MP0009672_abnormal_birth_weight1.06838585
63MP0003191_abnormal_cellular_cholesterol1.06079977
64MP0001697_abnormal_embryo_size1.05690932
65MP0002089_abnormal_postnatal_growth/wei1.01512924
66MP0002080_prenatal_lethality1.00580415
67MP0003303_peritoneal_inflammation1.00256221
68MP0004197_abnormal_fetal_growth/weight/0.99933175
69MP0002009_preneoplasia0.99782990
70MP0002269_muscular_atrophy0.99720665
71MP0000759_abnormal_skeletal_muscle0.99092932
72MP0003453_abnormal_keratinocyte_physiol0.98076396
73MP0009053_abnormal_anal_canal0.97374141
74MP0002254_reproductive_system_inflammat0.96395144
75MP0009697_abnormal_copulation0.94030103
76MP0005501_abnormal_skin_physiology0.93571001
77MP0004858_abnormal_nervous_system0.92916315
78MP0010307_abnormal_tumor_latency0.92704220
79MP0005023_abnormal_wound_healing0.92219820
80MP0003385_abnormal_body_wall0.89559966
81MP0004087_abnormal_muscle_fiber0.88082462
82MP0004808_abnormal_hematopoietic_stem0.87115929
83MP0002697_abnormal_eye_size0.86313408
84MP0004782_abnormal_surfactant_physiolog0.85714738
85MP0001243_abnormal_dermal_layer0.84870407
86MP0010630_abnormal_cardiac_muscle0.84040920
87MP0002092_abnormal_eye_morphology0.83528530
88MP0002396_abnormal_hematopoietic_system0.82755362
89MP0002084_abnormal_developmental_patter0.81662345
90MP0005375_adipose_tissue_phenotype0.80555731
91MP0002796_impaired_skin_barrier0.80156006
92MP0005384_cellular_phenotype0.79857913
93MP0002085_abnormal_embryonic_tissue0.78578827
94MP0002249_abnormal_larynx_morphology0.78506965
95MP0005666_abnormal_adipose_tissue0.75598767
96MP0000762_abnormal_tongue_morphology0.75078436
97MP0005330_cardiomyopathy0.73882083
98MP0002166_altered_tumor_susceptibility0.73646411
99MP0003942_abnormal_urinary_system0.73473279
100MP0005248_abnormal_Harderian_gland0.73361745

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)4.77724903
2Premature rupture of membranes (HP:0001788)4.63684719
3Vertebral compression fractures (HP:0002953)3.36509844
4Vascular tortuosity (HP:0004948)3.20949679
5Arterial tortuosity (HP:0005116)3.05037503
6Aortic aneurysm (HP:0004942)2.91589575
7Deep venous thrombosis (HP:0002625)2.87767692
8Spinal cord lesions (HP:0100561)2.79206989
9Syringomyelia (HP:0003396)2.79206989
10Ankle contracture (HP:0006466)2.70116743
11Aortic dissection (HP:0002647)2.60831196
12Achilles tendon contracture (HP:0001771)2.45783761
13Biconcave vertebral bodies (HP:0004586)2.40318907
14Abnormality of the Achilles tendon (HP:0005109)2.39584704
15Dilatation of the ascending aorta (HP:0005111)2.38918252
16Cervical subluxation (HP:0003308)2.35981378
17Osteolytic defects of the hand bones (HP:0009699)2.32599120
18Osteolytic defects of the phalanges of the hand (HP:0009771)2.32599120
19Scanning speech (HP:0002168)2.27194992
20Mitral valve prolapse (HP:0001634)2.24156474
21Abnormal foot bone ossification (HP:0010675)2.23282847
22Spastic diplegia (HP:0001264)2.23001546
23Hemorrhage of the eye (HP:0011885)2.22957675
24Abnormality of the intrinsic pathway (HP:0010989)2.21563899
25Asymmetry of the thorax (HP:0001555)2.20849026
26Upper limb amyotrophy (HP:0009129)2.18925304
27Distal upper limb amyotrophy (HP:0007149)2.18925304
28Spinal rigidity (HP:0003306)2.18167121
29Hand muscle atrophy (HP:0009130)2.17008940
30Wormian bones (HP:0002645)2.16254268
31Bladder diverticulum (HP:0000015)2.16227585
32Abnormality of the common coagulation pathway (HP:0010990)2.15504605
33Nonimmune hydrops fetalis (HP:0001790)2.13790414
34Mitral regurgitation (HP:0001653)2.13773250
35Abnormality of the distal phalanges of the toes (HP:0010182)2.12819258
36Flat acetabular roof (HP:0003180)2.12293158
37Shallow orbits (HP:0000586)2.12011203
38Myocardial infarction (HP:0001658)2.11315542
39Abnormality of the acetabulum (HP:0003170)2.10944264
40Abnormal tarsal ossification (HP:0008369)2.06393917
41Upper motor neuron abnormality (HP:0002127)2.05432702
42Hypobetalipoproteinemia (HP:0003563)2.03889909
43Abnormal delivery (HP:0001787)2.02942213
44Progressive muscle weakness (HP:0003323)2.02493796
45Prolonged partial thromboplastin time (HP:0003645)2.01769775
46Disproportionate tall stature (HP:0001519)2.01482393
47Capillary hemangiomas (HP:0005306)2.01040109
48Rectal prolapse (HP:0002035)2.00962721
49Back pain (HP:0003418)2.00424806
50Elbow flexion contracture (HP:0002987)1.99906718
51Abnormality of the lumbar spine (HP:0100712)1.99530557
52Blue sclerae (HP:0000592)1.98583742
53Abnormality of carpal bone ossification (HP:0006257)1.97052622
54Abnormality of the phalanges of the hallux (HP:0010057)1.96998995
55Pseudobulbar signs (HP:0002200)1.95364826
56Arnold-Chiari malformation (HP:0002308)1.95282740
57Ulnar bowing (HP:0003031)1.94172029
58Overlapping toe (HP:0001845)1.93022201
59Subacute progressive viral hepatitis (HP:0006572)1.92840852
60Cerebral aneurysm (HP:0004944)1.91991162
61Type 1 muscle fiber predominance (HP:0003803)1.89973837
62Cardiovascular calcification (HP:0011915)1.86385219
63Soft skin (HP:0000977)1.84323701
64Mitral stenosis (HP:0001718)1.83929567
65Joint laxity (HP:0001388)1.82539507
66Hyperextensible skin (HP:0000974)1.81625616
67Increased connective tissue (HP:0009025)1.81524065
68Increased variability in muscle fiber diameter (HP:0003557)1.81170939
69Aneurysm (HP:0002617)1.80700737
70Tetraparesis (HP:0002273)1.80628920
71Coronal craniosynostosis (HP:0004440)1.79658406
72Renal duplication (HP:0000075)1.79045092
73Fragile skin (HP:0001030)1.78078667
74Abnormal ossification of hand bones (HP:0005921)1.75162691
75Abnormality of skeletal muscle fiber size (HP:0012084)1.74802685
76Genu recurvatum (HP:0002816)1.74443258
77Insomnia (HP:0100785)1.71613623
78Hypolipoproteinemia (HP:0010981)1.69846452
79Hyperacusis (HP:0010780)1.69517215
80Abnormality of the umbilical cord (HP:0010881)1.67487213
81Thin bony cortex (HP:0002753)1.65657342
82Entropion (HP:0000621)1.65556360
83Long palpebral fissure (HP:0000637)1.64826004
84Abnormality of dentin (HP:0010299)1.62819109
85Acanthocytosis (HP:0001927)1.62805053
86Abnormality of the fetal cardiovascular system (HP:0010948)1.62267522
87Abnormal umbilical cord blood vessels (HP:0011403)1.62267522
88Single umbilical artery (HP:0001195)1.62267522
89Overgrowth (HP:0001548)1.62263737
90Atrophic scars (HP:0001075)1.61898596
91Camptodactyly of toe (HP:0001836)1.61378945
92Deep philtrum (HP:0002002)1.61268252
93Thoracolumbar scoliosis (HP:0002944)1.60347268
94Hammertoe (HP:0001765)1.60140145
95Papillary thyroid carcinoma (HP:0002895)1.60083542
96Microglossia (HP:0000171)1.59901792
97Short nail (HP:0001799)1.59834283
98Inguinal hernia (HP:0000023)1.59617851
99Breech presentation (HP:0001623)1.59071086
100Ankyloglossia (HP:0010296)1.57314116

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EEF2K2.87843244
2SCYL22.84905026
3PDGFRA2.81912733
4TRIB32.75114593
5PRPF4B2.49419211
6NEK92.38823111
7BUB12.38584072
8CDK122.11658369
9FGFR42.07325528
10KSR22.03613914
11IRAK31.95465936
12SMG11.92436437
13ERN11.90949791
14LATS11.87225273
15PBK1.75959614
16MAP3K101.68185683
17ICK1.66648301
18CDK61.65702359
19DDR21.64692348
20PAK41.53940939
21TTK1.53651459
22AKT31.46672331
23LATS21.43619356
24TTN1.43474254
25BRSK21.38118952
26EIF2AK11.35014727
27TSSK61.34598989
28TAOK21.34005017
29NME21.32961558
30PAK21.32408852
31ERBB41.32022845
32SIK11.26750022
33BRAF1.25451095
34SRPK11.22895019
35ARAF1.21817593
36RIPK11.16845034
37MAP2K31.13426272
38MOS1.12417909
39MELK1.11922773
40RAF11.10973261
41NEK11.10666422
42PKN21.08220918
43MAP3K81.07475714
44EIF2AK30.93740352
45STK40.92393880
46MAP3K90.89400077
47CDK70.88676276
48MAP3K130.87716468
49MAP3K50.81511385
50TGFBR20.81369176
51TESK10.79333036
52PTK20.79121514
53KSR10.77758581
54BRD40.76634156
55PIM20.75290107
56NTRK10.69002107
57STK160.67965583
58MTOR0.67596876
59DYRK1B0.66642723
60PTK60.66290842
61CDK40.65562811
62FGFR30.64612500
63MAP3K10.64511878
64LIMK10.62545363
65PDPK10.61592672
66BRSK10.61145303
67CDC70.60800019
68EPHB10.59675540
69PRKD20.58647864
70RPS6KB10.58398289
71IRAK20.58353265
72WNK10.57411526
73PIK3CG0.56858918
74PIM10.55544736
75CDK80.55039777
76CHEK10.54841722
77CAMK1D0.54410564
78AKT20.53241720
79PDGFRB0.51683750
80MAPK110.51329307
81RPS6KA40.50327134
82TAF10.50260880
83RPS6KB20.48129614
84TYK20.47569193
85TESK20.45586023
86DAPK30.45200108
87CDK90.45056954
88YES10.44023043
89RET0.42345919
90PLK10.39505661
91STK30.39135471
92MET0.38591432
93SIK30.38570148
94TYRO30.37727182
95CDC42BPA0.36894467
96CLK10.36225091
97DMPK0.36066663
98MAPK100.36028010
99CAMKK20.35756937
100CHEK20.35303359

Predicted pathways (KEGG)

RankGene SetZ-score
1Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.65888926
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.39397647
3Steroid biosynthesis_Homo sapiens_hsa001002.07708015
4Chronic myeloid leukemia_Homo sapiens_hsa052202.00712808
5Bladder cancer_Homo sapiens_hsa052191.84972340
6Other glycan degradation_Homo sapiens_hsa005111.84471332
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.81350398
8Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.75983371
9Thyroid cancer_Homo sapiens_hsa052161.70287349
10Pyruvate metabolism_Homo sapiens_hsa006201.61020278
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.56946644
12Biosynthesis of amino acids_Homo sapiens_hsa012301.50787178
13Pancreatic cancer_Homo sapiens_hsa052121.49021066
14Non-small cell lung cancer_Homo sapiens_hsa052231.43072158
15Central carbon metabolism in cancer_Homo sapiens_hsa052301.41271842
16Sulfur relay system_Homo sapiens_hsa041221.37776581
17N-Glycan biosynthesis_Homo sapiens_hsa005101.36585945
18Fatty acid biosynthesis_Homo sapiens_hsa000611.33065185
19Small cell lung cancer_Homo sapiens_hsa052221.32473139
20Vitamin B6 metabolism_Homo sapiens_hsa007501.32044642
21Complement and coagulation cascades_Homo sapiens_hsa046101.31222909
22Proteoglycans in cancer_Homo sapiens_hsa052051.30256179
23Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.30244960
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.30016275
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.29492523
26Carbon metabolism_Homo sapiens_hsa012001.28110636
27Cell cycle_Homo sapiens_hsa041101.26939486
28Adherens junction_Homo sapiens_hsa045201.26433307
29Endometrial cancer_Homo sapiens_hsa052131.23891226
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.21760557
31AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.20841708
32Prion diseases_Homo sapiens_hsa050201.19500098
33Prostate cancer_Homo sapiens_hsa052151.19438117
34Glycosaminoglycan degradation_Homo sapiens_hsa005311.17819298
35Focal adhesion_Homo sapiens_hsa045101.15514820
36Fatty acid metabolism_Homo sapiens_hsa012121.14986911
37MicroRNAs in cancer_Homo sapiens_hsa052061.14784603
38Pentose phosphate pathway_Homo sapiens_hsa000301.13738914
39Renal cell carcinoma_Homo sapiens_hsa052111.11459391
40DNA replication_Homo sapiens_hsa030301.09634830
41Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.05968092
42p53 signaling pathway_Homo sapiens_hsa041151.05870487
43Glioma_Homo sapiens_hsa052141.05460348
44Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.05335161
45Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.04362638
46Acute myeloid leukemia_Homo sapiens_hsa052211.02552588
47Viral carcinogenesis_Homo sapiens_hsa052031.00583531
48Hepatitis B_Homo sapiens_hsa051610.99744347
49Non-homologous end-joining_Homo sapiens_hsa034500.99648013
50Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97376437
51Colorectal cancer_Homo sapiens_hsa052100.95681970
52mRNA surveillance pathway_Homo sapiens_hsa030150.95610994
53ECM-receptor interaction_Homo sapiens_hsa045120.94860646
54Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.94769671
55Insulin signaling pathway_Homo sapiens_hsa049100.93242503
56mTOR signaling pathway_Homo sapiens_hsa041500.88586032
57RNA transport_Homo sapiens_hsa030130.83451115
58Thyroid hormone signaling pathway_Homo sapiens_hsa049190.82451217
59TGF-beta signaling pathway_Homo sapiens_hsa043500.81255402
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.79994188
61Neurotrophin signaling pathway_Homo sapiens_hsa047220.79649458
62Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.79188546
63Fructose and mannose metabolism_Homo sapiens_hsa000510.76440784
64FoxO signaling pathway_Homo sapiens_hsa040680.76173866
65PPAR signaling pathway_Homo sapiens_hsa033200.74610536
66Prolactin signaling pathway_Homo sapiens_hsa049170.74564911
67Melanoma_Homo sapiens_hsa052180.74021302
68ErbB signaling pathway_Homo sapiens_hsa040120.73908137
69Cyanoamino acid metabolism_Homo sapiens_hsa004600.73864658
70One carbon pool by folate_Homo sapiens_hsa006700.73372152
71AMPK signaling pathway_Homo sapiens_hsa041520.72980578
72Nucleotide excision repair_Homo sapiens_hsa034200.72857754
73Fatty acid degradation_Homo sapiens_hsa000710.72131966
74B cell receptor signaling pathway_Homo sapiens_hsa046620.71536893
75Renin-angiotensin system_Homo sapiens_hsa046140.70835320
76Spliceosome_Homo sapiens_hsa030400.67583277
77HTLV-I infection_Homo sapiens_hsa051660.66547427
78Shigellosis_Homo sapiens_hsa051310.66069570
79Amoebiasis_Homo sapiens_hsa051460.65804661
80Hepatitis C_Homo sapiens_hsa051600.64622379
81Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63282705
82Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63189420
83Regulation of actin cytoskeleton_Homo sapiens_hsa048100.62051229
84Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.60912804
85Sulfur metabolism_Homo sapiens_hsa009200.60869360
86Selenocompound metabolism_Homo sapiens_hsa004500.59890414
87Fatty acid elongation_Homo sapiens_hsa000620.59526817
88Hippo signaling pathway_Homo sapiens_hsa043900.59480850
89Insulin resistance_Homo sapiens_hsa049310.58768446
90Cysteine and methionine metabolism_Homo sapiens_hsa002700.58333948
91Apoptosis_Homo sapiens_hsa042100.58218129
92Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.56333343
93Folate biosynthesis_Homo sapiens_hsa007900.55098887
94HIF-1 signaling pathway_Homo sapiens_hsa040660.54698708
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.53658380
96Mismatch repair_Homo sapiens_hsa034300.53181851
97Galactose metabolism_Homo sapiens_hsa000520.51471170
98Inositol phosphate metabolism_Homo sapiens_hsa005620.51321474
99Leukocyte transendothelial migration_Homo sapiens_hsa046700.50097271
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49154133

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