ERVV-1

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: Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. The gene's envelope protein is expressed in the human placenta but is truncated at its C-terminus. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1meiotic chromosome segregation (GO:0045132)9.80118853
2estrogen biosynthetic process (GO:0006703)8.57391952
3bone trabecula formation (GO:0060346)8.39286743
4snRNA processing (GO:0016180)8.36803832
5endocrine hormone secretion (GO:0060986)8.02832717
6histone H3-K4 trimethylation (GO:0080182)7.86847154
7peptidyl-threonine dephosphorylation (GO:0035970)7.85806064
8snRNA metabolic process (GO:0016073)7.68950463
9thyroid hormone generation (GO:0006590)7.42374359
10protein K11-linked deubiquitination (GO:0035871)7.01587261
11activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)7.00163500
12mitochondrion degradation (GO:0000422)6.74046191
13UDP-N-acetylglucosamine metabolic process (GO:0006047)6.52878060
14thyroid hormone metabolic process (GO:0042403)6.18072369
15N-acetylneuraminate metabolic process (GO:0006054)5.90574886
16endothelial cell proliferation (GO:0001935)5.59296790
17rRNA catabolic process (GO:0016075)5.45698528
18regulation of MHC class II biosynthetic process (GO:0045346)5.13864303
19DNA replication initiation (GO:0006270)5.11211539
20positive regulation of triglyceride biosynthetic process (GO:0010867)5.09307431
21vesicle targeting (GO:0006903)4.94540587
22interkinetic nuclear migration (GO:0022027)4.82503481
23acrosome assembly (GO:0001675)4.73761932
24peptidyl-lysine trimethylation (GO:0018023)4.63795101
25wound healing, spreading of epidermal cells (GO:0035313)4.62226925
26nerve growth factor signaling pathway (GO:0038180)4.61932381
27positive regulation of hair follicle development (GO:0051798)4.61031418
28positive regulation of hair cycle (GO:0042635)4.61031418
29mismatch repair (GO:0006298)4.46942024
30rRNA methylation (GO:0031167)4.46530953
31sprouting angiogenesis (GO:0002040)4.45924977
32negative regulation of fatty acid biosynthetic process (GO:0045717)4.44768636
33positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)4.44308099
34granulocyte differentiation (GO:0030851)4.31922453
35reciprocal meiotic recombination (GO:0007131)4.24818073
36reciprocal DNA recombination (GO:0035825)4.24818073
37positive regulation of cytokinesis (GO:0032467)4.23947611
38syncytium formation (GO:0006949)4.15442613
39phosphatidylglycerol acyl-chain remodeling (GO:0036148)4.10700432
40rRNA modification (GO:0000154)4.04719540
41negative regulation of blood vessel endothelial cell migration (GO:0043537)4.03625590
42interleukin-6-mediated signaling pathway (GO:0070102)4.01595129
43C-terminal protein lipidation (GO:0006501)3.91680307
44mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.89170832
45branching involved in labyrinthine layer morphogenesis (GO:0060670)3.88006938
46L-alpha-amino acid transmembrane transport (GO:1902475)3.85309291
47regulation of memory T cell differentiation (GO:0043380)3.84182947
48positive regulation of DNA-templated transcription, initiation (GO:2000144)3.82062379
49bundle of His cell to Purkinje myocyte communication (GO:0086069)3.81920829
50autophagic vacuole assembly (GO:0000045)3.77288867
51negative regulation of NF-kappaB import into nucleus (GO:0042347)3.70121591
52negative regulation of type I interferon production (GO:0032480)3.69862528
53phosphatidylinositol acyl-chain remodeling (GO:0036149)3.66462557
54positive regulation of histone H3-K4 methylation (GO:0051571)3.66189620
55toxin transport (GO:1901998)3.64420017
56regulation of histone H3-K4 methylation (GO:0051569)3.62026385
57vitamin transmembrane transport (GO:0035461)3.61835768
58basic amino acid transport (GO:0015802)3.58688057
59synaptonemal complex assembly (GO:0007130)3.55902972
60ncRNA catabolic process (GO:0034661)3.55118388
61positive regulation of mitochondrial fission (GO:0090141)3.54522589
62phosphatidylserine acyl-chain remodeling (GO:0036150)3.53683557
63negative regulation of organ growth (GO:0046621)3.49636703
64vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.49610195
65desmosome organization (GO:0002934)3.48441440
66thyroid gland development (GO:0030878)3.46440507
67auditory receptor cell stereocilium organization (GO:0060088)3.43054946
68regulation of triglyceride biosynthetic process (GO:0010866)3.36834827
69N-terminal protein amino acid modification (GO:0031365)3.36211376
70peptidyl-lysine methylation (GO:0018022)3.34571211
71tooth mineralization (GO:0034505)3.33485569
72blood vessel maturation (GO:0001955)3.31563732
73positive regulation of triglyceride metabolic process (GO:0090208)3.31116115
74heme transport (GO:0015886)3.31038496
75carnitine metabolic process (GO:0009437)3.29709749
76positive regulation of digestive system process (GO:0060456)3.27563191
77negative regulation of defense response to virus (GO:0050687)3.26598475
78C-terminal protein amino acid modification (GO:0018410)3.26099894
79synaptonemal complex organization (GO:0070193)3.24612597
80positive regulation of DNA-templated transcription, elongation (GO:0032786)3.23205909
81estrogen metabolic process (GO:0008210)3.21546380
82cellular response to exogenous dsRNA (GO:0071360)3.19364426
83histone H3-K4 methylation (GO:0051568)3.16559320
84wound healing, spreading of cells (GO:0044319)3.16335307
85Golgi to endosome transport (GO:0006895)3.10203048
86response to follicle-stimulating hormone (GO:0032354)3.08913947
87androgen biosynthetic process (GO:0006702)3.05432206
88female pregnancy (GO:0007565)3.04287811
89female gamete generation (GO:0007292)3.02041415
90regulation of fatty acid oxidation (GO:0046320)2.95002813
91inner ear receptor stereocilium organization (GO:0060122)2.93561567
92regulation of hair cycle (GO:0042634)2.92730624
93cranial suture morphogenesis (GO:0060363)2.91816370
94chemical homeostasis within a tissue (GO:0048875)2.91357508
95positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.88316433
96mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.88316433
97regulation of mitochondrial fission (GO:0090140)2.86320663
98positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)2.85810506
99N-acetylglucosamine metabolic process (GO:0006044)2.84425836
100trabecula formation (GO:0060343)2.84355808

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYCN_21190229_ChIP-Seq_SHEP-21N_Human4.43883358
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.21828228
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.19604984
4ESR1_15608294_ChIP-ChIP_MCF-7_Human3.91652343
5GATA1_26923725_Chip-Seq_HPCs_Mouse3.62671415
6ESR1_21235772_ChIP-Seq_MCF-7_Human2.79671336
7HIF1A_21447827_ChIP-Seq_MCF-7_Human2.77104642
8SCL_19346495_ChIP-Seq_HPC-7_Human2.76406089
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.58536657
10EOMES_20176728_ChIP-ChIP_TSCs_Mouse2.34391065
11RBPJ_22232070_ChIP-Seq_NCS_Mouse2.21127149
12TCF4_18268006_ChIP-ChIP_LS174T_Human2.11620759
13ZNF263_19887448_ChIP-Seq_K562_Human2.08344308
14PPAR_26484153_Chip-Seq_NCI-H1993_Human2.02588242
15RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.95630591
16CBP_20019798_ChIP-Seq_JUKART_Human1.94373090
17IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.94373090
18DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.88768530
19ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.88632276
20RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.85303574
21EGR1_23403033_ChIP-Seq_LIVER_Mouse1.83679867
22AHR_22903824_ChIP-Seq_MCF-7_Human1.83678535
23FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.83350069
24FOXO3_23340844_ChIP-Seq_DLD1_Human1.73861258
25WDR5_24793694_ChIP-Seq_LNCAP_Human1.69139308
26CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.66281557
27TFEB_21752829_ChIP-Seq_HELA_Human1.65669207
28DROSHA_22980978_ChIP-Seq_HELA_Human1.64459497
29EWS_26573619_Chip-Seq_HEK293_Human1.64253271
30GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.44596798
31TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.42034383
32CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.38622058
33GF1_26923725_Chip-Seq_HPCs_Mouse1.36697398
34BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.34292835
35NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.32653028
36P63_26484246_Chip-Seq_KERATINOCYTES_Human1.32058082
37CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.32031173
38GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.29845388
39LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29165298
40P300_27268052_Chip-Seq_Bcells_Human1.28447468
41ARNT_22903824_ChIP-Seq_MCF-7_Human1.28426599
42ETV2_25802403_ChIP-Seq_MESCs_Mouse1.26548759
43TCF4_23295773_ChIP-Seq_U87_Human1.25187563
44MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.23377558
45HOXB7_26014856_ChIP-Seq_BT474_Human1.22563250
46E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.18866702
47VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.17974585
48LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.15667550
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15446947
50CDX2_22108803_ChIP-Seq_LS180_Human1.14228863
51TP63_22573176_ChIP-Seq_HFKS_Human1.14227584
52PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.10692895
53STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.09157620
54ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.08268919
55EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.06733142
56TBX3_20139965_ChIP-Seq_MESCs_Mouse1.05643694
57OCT1_27270436_Chip-Seq_PROSTATE_Human1.04311059
58GATA6_25053715_ChIP-Seq_YYC3_Human1.04279683
59TBX3_20139965_ChIP-Seq_ESCs_Mouse1.03834152
60TP63_23658742_ChIP-Seq_EP156T_Human1.03584188
61MYC_18555785_ChIP-Seq_MESCs_Mouse1.01440497
62GATA3_24758297_ChIP-Seq_MCF-7_Human1.01437876
63FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00296397
64FOXA1_25329375_ChIP-Seq_VCAP_Human1.00296397
65ESR2_21235772_ChIP-Seq_MCF-7_Human0.99023431
66PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97891820
67TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96674434
68FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.96157971
69SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.95219433
70AR_21572438_ChIP-Seq_LNCaP_Human0.95206834
71GATA4_25053715_ChIP-Seq_YYC3_Human0.95031556
72SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.94441468
73BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.94218292
74MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.94045944
75CLOCK_20551151_ChIP-Seq_293T_Human0.93575823
76STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.90751849
77LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.90415785
78LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.89857841
79RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.89219230
80RBPJ_21746931_ChIP-Seq_IB4_Human0.87848674
81ZNF217_24962896_ChIP-Seq_MCF-7_Human0.87177953
82ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.86695770
83RXRA_24833708_ChIP-Seq_LIVER_Mouse0.86413548
84AR_20517297_ChIP-Seq_VCAP_Human0.85243579
85TAF15_26573619_Chip-Seq_HEK293_Human0.84988428
86OCT4_19829295_ChIP-Seq_ESCs_Human0.84844283
87ETV1_20927104_ChIP-Seq_GIST48_Human0.84550222
88KLF5_25053715_ChIP-Seq_YYC3_Human0.82601602
89PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.81773720
90CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.81523558
91RARA_24833708_ChIP-Seq_LIVER_Mouse0.81077698
92AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80336148
93SMC4_20622854_ChIP-Seq_HELA_Human0.78951116
94PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.78404257
95TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.78007827
96SOX17_20123909_ChIP-Seq_XEN_Mouse0.77845323
97SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.77218205
98SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.77218205
99STAT3_18555785_ChIP-Seq_MESCs_Mouse0.76882003
100FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.76393075

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002876_abnormal_thyroid_physiology7.93767948
2MP0000003_abnormal_adipose_tissue4.77577771
3MP0004782_abnormal_surfactant_physiolog3.35541358
4MP0005310_abnormal_salivary_gland3.28918793
5MP0005646_abnormal_pituitary_gland3.15749970
6MP0000647_abnormal_sebaceous_gland3.10282971
7MP0002098_abnormal_vibrissa_morphology3.00873887
8MP0005085_abnormal_gallbladder_physiolo2.85605651
9MP0005375_adipose_tissue_phenotype2.48980538
10MP0002127_abnormal_cardiovascular_syste2.35806361
11MP0005076_abnormal_cell_differentiation2.23574033
12MP0004185_abnormal_adipocyte_glucose2.20087611
13MP0010307_abnormal_tumor_latency2.17341927
14MP0009697_abnormal_copulation2.14388390
15MP0000013_abnormal_adipose_tissue2.13367020
16MP0004484_altered_response_of2.12533972
17MP0008004_abnormal_stomach_pH2.12372898
18MP0002796_impaired_skin_barrier2.09582371
19MP0000427_abnormal_hair_cycle2.09528369
20MP0003878_abnormal_ear_physiology2.08089528
21MP0005377_hearing/vestibular/ear_phenot2.08089528
22MP0000383_abnormal_hair_follicle2.07035384
23MP0000681_abnormal_thyroid_gland2.00095847
24MP0009672_abnormal_birth_weight1.99662737
25MP0000631_abnormal_neuroendocrine_gland1.95121772
26MP0004233_abnormal_muscle_weight1.90148706
27MP0003011_delayed_dark_adaptation1.85107639
28MP0009115_abnormal_fat_cell1.79326524
29MP0003718_maternal_effect1.70121132
30MP0005023_abnormal_wound_healing1.61588902
31MP0001764_abnormal_homeostasis1.61126618
32MP0009764_decreased_sensitivity_to1.51376200
33MP0008775_abnormal_heart_ventricle1.40535182
34MP0004147_increased_porphyrin_level1.35385437
35MP0002160_abnormal_reproductive_system1.32783263
36MP0004858_abnormal_nervous_system1.31915758
37MP0009643_abnormal_urine_homeostasis1.31883661
38MP0005365_abnormal_bile_salt1.30946537
39MP0009780_abnormal_chondrocyte_physiolo1.29458063
40MP0009703_decreased_birth_body1.27398641
41MP0000377_abnormal_hair_follicle1.24623167
42MP0001881_abnormal_mammary_gland1.22893466
43MP0005501_abnormal_skin_physiology1.20637596
44MP0005647_abnormal_sex_gland1.19729605
45MP0003448_altered_tumor_morphology1.16708506
46MP0004264_abnormal_extraembryonic_tissu1.15388396
47MP0002210_abnormal_sex_determination1.14459537
48MP0009333_abnormal_splenocyte_physiolog1.13321819
49MP0008872_abnormal_physiological_respon1.12181306
50MP0003936_abnormal_reproductive_system1.08030910
51MP0004019_abnormal_vitamin_homeostasis1.07482617
52MP0010678_abnormal_skin_adnexa1.05713051
53MP0005389_reproductive_system_phenotype1.04508063
54MP0002163_abnormal_gland_morphology1.03887323
55MP0003879_abnormal_hair_cell1.02240782
56MP0002909_abnormal_adrenal_gland0.98766309
57MP0003115_abnormal_respiratory_system0.95331419
58MP0004742_abnormal_vestibular_system0.92915730
59MP0006072_abnormal_retinal_apoptosis0.92369846
60MP0005332_abnormal_amino_acid0.92303376
61MP0005334_abnormal_fat_pad0.92088845
62MP0001666_abnormal_nutrient_absorption0.90967526
63MP0003136_yellow_coat_color0.84990146
64MP0004272_abnormal_basement_membrane0.81424882
65MP0005551_abnormal_eye_electrophysiolog0.81270733
66MP0004084_abnormal_cardiac_muscle0.78397284
67MP0003221_abnormal_cardiomyocyte_apopto0.78226953
68MP0001502_abnormal_circadian_rhythm0.77996181
69MP0000627_abnormal_mammary_gland0.77629707
70MP0004130_abnormal_muscle_cell0.76466853
71MP0005253_abnormal_eye_physiology0.75011827
72MP0000367_abnormal_coat/_hair0.74511137
73MP0003938_abnormal_ear_development0.73997919
74MP0002086_abnormal_extraembryonic_tissu0.73599840
75MP0001216_abnormal_epidermal_layer0.71674188
76MP0008770_decreased_survivor_rate0.71669033
77MP0005636_abnormal_mineral_homeostasis0.71489365
78MP0009745_abnormal_behavioral_response0.70962613
79MP0001440_abnormal_grooming_behavior0.70582950
80MP0003698_abnormal_male_reproductive0.70410202
81MP0001145_abnormal_male_reproductive0.69372651
82MP0003699_abnormal_female_reproductive0.67439642
83MP0005379_endocrine/exocrine_gland_phen0.66994633
84MP0003186_abnormal_redox_activity0.66662964
85MP0003984_embryonic_growth_retardation0.66515641
86MP0002136_abnormal_kidney_physiology0.66298843
87MP0003567_abnormal_fetal_cardiomyocyte0.65869702
88MP0002088_abnormal_embryonic_growth/wei0.65213775
89MP0004885_abnormal_endolymph0.65188691
90MP0001119_abnormal_female_reproductive0.64781366
91MP0005167_abnormal_blood-brain_barrier0.63193445
92MP0005380_embryogenesis_phenotype0.61999911
93MP0001672_abnormal_embryogenesis/_devel0.61999911
94MP0001756_abnormal_urination0.60283583
95MP0005197_abnormal_uvea_morphology0.60037716
96MP0002970_abnormal_white_adipose0.59991377
97MP0005595_abnormal_vascular_smooth0.57638713
98MP0000653_abnormal_sex_gland0.56452506
99MP0010094_abnormal_chromosome_stability0.56156794
100MP0005410_abnormal_fertilization0.55231711

Predicted human phenotypes

RankGene SetZ-score
1Pigmentary retinal degeneration (HP:0001146)5.33997090
2Amelogenesis imperfecta (HP:0000705)4.93757725
3Chronic bronchitis (HP:0004469)4.86770732
4Absent rod-and cone-mediated responses on ERG (HP:0007688)4.48037817
5Abnormality of the parietal bone (HP:0002696)4.37452541
6Cervical subluxation (HP:0003308)4.30526978
7Decreased circulating renin level (HP:0003351)4.11786076
8Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.08587830
9Broad metatarsal (HP:0001783)3.92847003
10Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.84960868
11Abnormal rod and cone electroretinograms (HP:0008323)3.79657209
12Thyroid-stimulating hormone excess (HP:0002925)3.59283863
13Right ventricular cardiomyopathy (HP:0011663)3.55540027
14Woolly hair (HP:0002224)3.55468345
15Choroideremia (HP:0001139)3.53668176
16Ankle contracture (HP:0006466)3.50362627
17Flat occiput (HP:0005469)3.41509058
18Wrist flexion contracture (HP:0001239)3.40380986
19Impulsivity (HP:0100710)3.29163902
20Severe Myopia (HP:0011003)3.23073976
21Hypoplastic nipples (HP:0002557)3.17026663
22Split foot (HP:0001839)3.16870081
23Cerebellar dysplasia (HP:0007033)3.12830527
24Bony spicule pigmentary retinopathy (HP:0007737)3.09435280
25Abnormality of incisor morphology (HP:0011063)3.03118499
26Hyperkalemia (HP:0002153)3.01826876
27Hyperaldosteronism (HP:0000859)3.00151600
28Aplasia cutis congenita (HP:0001057)2.99268949
29Fragile nails (HP:0001808)2.98805777
30Abnormality of dental color (HP:0011073)2.97188989
31Increased neuronal autofluorescent lipopigment (HP:0002074)2.96985891
32Decreased central vision (HP:0007663)2.94991667
33Skin nodule (HP:0200036)2.94127188
34Renal salt wasting (HP:0000127)2.94003109
35Abnormality of macular pigmentation (HP:0008002)2.90184635
36Abnormality of the dental root (HP:0006486)2.88935624
37Taurodontia (HP:0000679)2.88935624
38Abnormality of permanent molar morphology (HP:0011071)2.88935624
39Rimmed vacuoles (HP:0003805)2.85711632
40Attenuation of retinal blood vessels (HP:0007843)2.82941978
41Recurrent otitis media (HP:0000403)2.74005525
42Abnormality of molar (HP:0011077)2.68286434
43Abnormality of molar morphology (HP:0011070)2.68286434
44Widely patent fontanelles and sutures (HP:0004492)2.66469551
45Limb-girdle muscle atrophy (HP:0003797)2.57895657
46Abnormality of the dental pulp (HP:0006479)2.55938401
47Birth length less than 3rd percentile (HP:0003561)2.55225582
48Abnormal biliary tract physiology (HP:0012439)2.51164677
49Bile duct proliferation (HP:0001408)2.51164677
50Abnormality of the nasal septum (HP:0000419)2.46736164
51Abnormality of renin-angiotensin system (HP:0000847)2.42216920
52Hypoplasia of the uterus (HP:0000013)2.37772554
53Increased cerebral lipofuscin (HP:0011813)2.37146489
54Hyperglycinuria (HP:0003108)2.37124731
55Oligodactyly (hands) (HP:0001180)2.36656455
56Intrahepatic cholestasis (HP:0001406)2.35570947
57Abnormality of alanine metabolism (HP:0010916)2.33384900
58Hyperalaninemia (HP:0003348)2.33384900
59Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.33384900
60Hypocalcemia (HP:0002901)2.31742803
61Protrusio acetabuli (HP:0003179)2.30749561
62Hypomagnesemia (HP:0002917)2.30710955
63Central scotoma (HP:0000603)2.28796804
64Hypokalemic alkalosis (HP:0001949)2.28562001
65Abnormal drinking behavior (HP:0030082)2.27460951
66Polydipsia (HP:0001959)2.27460951
67Abnormality of the aortic arch (HP:0012303)2.26309178
68Biliary tract neoplasm (HP:0100574)2.24761899
69Absent hand (HP:0004050)2.23960334
70Abnormal pancreas size (HP:0012094)2.23402712
71Hypergonadotropic hypogonadism (HP:0000815)2.23365672
72Confusion (HP:0001289)2.21041403
73Conical tooth (HP:0000698)2.20423758
74Tetany (HP:0001281)2.19686841
75Hypoplasia of the pons (HP:0012110)2.19158852
76Abnormality of the frontal sinuses (HP:0002687)2.14227138
77Chronic hepatic failure (HP:0100626)2.10952700
78Aplastic anemia (HP:0001915)2.04056924
79Abnormality of magnesium homeostasis (HP:0004921)2.02680448
80Hyperactive renin-angiotensin system (HP:0000841)2.01755664
81Progressive visual loss (HP:0000529)1.99537267
82Vertebral compression fractures (HP:0002953)1.99025458
83Aplasia/hypoplasia of the uterus (HP:0008684)1.97970801
842-3 toe syndactyly (HP:0004691)1.92402408
85Abnormality of pyrimidine metabolism (HP:0004353)1.91808179
86Bronchitis (HP:0012387)1.90974505
87Breast hypoplasia (HP:0003187)1.90136773
88Type II lissencephaly (HP:0007260)1.89763038
89Hip contracture (HP:0003273)1.88534825
90Congenital stationary night blindness (HP:0007642)1.88525318
91Abnormality of the pons (HP:0007361)1.87464865
92Hyperglycinemia (HP:0002154)1.84877449
93Neutropenia (HP:0001875)1.83653855
94Tarsal synostosis (HP:0008368)1.82670001
95Dialeptic seizures (HP:0011146)1.82628268
96Narrow nasal bridge (HP:0000446)1.80746316
97Retinitis pigmentosa (HP:0000510)1.78301019
98Aplasia involving forearm bones (HP:0009822)1.78084663
99Absent forearm bone (HP:0003953)1.78084663
100Protuberant abdomen (HP:0001538)1.77025891

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK9.21374607
2MAP3K95.27027798
3CAMK1D4.00542529
4WNK43.14565654
5CAMKK22.83410218
6STK392.72323648
7CAMK1G2.56104343
8AKT32.43136102
9FRK2.38648386
10TYRO32.20611044
11PDPK12.20031750
12PDK12.02898332
13NME11.95614485
14CAMK41.78241033
15STK38L1.76764151
16EPHA21.75362138
17GSK3A1.58389640
18MELK1.53983737
19ICK1.43376548
20LATS11.43113551
21RPS6KA41.34793562
22PBK1.19949959
23OXSR11.17015276
24BRSK11.13279133
25DAPK21.06927995
26PIM11.04308433
27NME21.01422718
28PKN11.00047883
29EPHA40.98121341
30MAP3K70.93940217
31MATK0.91409277
32STK380.89684112
33HIPK20.87785025
34MAPKAPK50.86278006
35BMX0.85992097
36CSNK1E0.84124181
37TLK10.82115244
38MST40.81925095
39CAMK10.80670073
40PINK10.75589225
41MARK30.75583241
42LATS20.73740687
43PRKCI0.73352675
44WEE10.72915295
45ERBB20.70584728
46PDK20.68168358
47RPS6KA60.67838358
48RPS6KA20.63070073
49CDK90.59739911
50DYRK30.58973393
51RPS6KC10.58411219
52RPS6KL10.58411219
53TNK20.57935362
54CAMKK10.55887389
55DYRK20.55439884
56SGK20.54069137
57RPS6KB20.53787574
58KDR0.53591177
59PRKD10.53226898
60PRKCQ0.52145549
61WNK10.51092247
62SGK4940.50602380
63SGK2230.50602380
64AURKB0.49689585
65NEK20.48842947
66PLK10.48416788
67SRPK10.47299431
68MTOR0.45753592
69ZAK0.45606983
70PTK2B0.42857181
71PRKD20.40822229
72LYN0.39623671
73PRKAA20.38266470
74FER0.38166608
75PRKCE0.38131124
76PRKG20.34907514
77BRSK20.34268972
78PDGFRB0.32425048
79ROCK10.32411888
80SGK10.32269825
81PHKG10.31946687
82PHKG20.31946687
83KSR10.31935395
84MAPK140.31111196
85RPS6KA50.28511160
86CHEK10.27808810
87CDK10.27632308
88PLK40.27602338
89PRKCZ0.26570204
90MAP2K10.25901948
91PRKAA10.25592442
92MAP3K80.25177855
93AURKA0.25038551
94MAPK10.23458864
95ABL10.22551090
96TAOK30.22387704
97PTK20.21862758
98CSNK1A10.21751139
99CSNK2A20.21580034
100ERN10.21551784

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049134.79166455
2Regulation of autophagy_Homo sapiens_hsa041404.61130459
3Caffeine metabolism_Homo sapiens_hsa002323.51930694
4Linoleic acid metabolism_Homo sapiens_hsa005913.26003067
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.19073076
6Cysteine and methionine metabolism_Homo sapiens_hsa002702.65336055
7Propanoate metabolism_Homo sapiens_hsa006402.62084506
8Thyroid hormone synthesis_Homo sapiens_hsa049182.61581140
9Autoimmune thyroid disease_Homo sapiens_hsa053202.57029293
10Steroid hormone biosynthesis_Homo sapiens_hsa001402.35717133
11One carbon pool by folate_Homo sapiens_hsa006702.33560121
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.22464463
13Selenocompound metabolism_Homo sapiens_hsa004502.22140002
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.07996404
15Ether lipid metabolism_Homo sapiens_hsa005651.97466894
16Pyruvate metabolism_Homo sapiens_hsa006201.75176854
17Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.70824396
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.70497809
19Cyanoamino acid metabolism_Homo sapiens_hsa004601.65457564
20FoxO signaling pathway_Homo sapiens_hsa040681.61780301
21Sulfur relay system_Homo sapiens_hsa041221.60268454
22GnRH signaling pathway_Homo sapiens_hsa049121.57793336
23PI3K-Akt signaling pathway_Homo sapiens_hsa041511.57658937
24Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.56725316
25p53 signaling pathway_Homo sapiens_hsa041151.56715896
26Arginine and proline metabolism_Homo sapiens_hsa003301.33848118
27Mineral absorption_Homo sapiens_hsa049781.32635892
28PPAR signaling pathway_Homo sapiens_hsa033201.29868563
29Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.27381777
30Fatty acid metabolism_Homo sapiens_hsa012121.24353385
31Ras signaling pathway_Homo sapiens_hsa040141.22632152
32Basal transcription factors_Homo sapiens_hsa030221.20229199
33Fatty acid degradation_Homo sapiens_hsa000711.17571064
34Arginine biosynthesis_Homo sapiens_hsa002201.14687990
35Cell cycle_Homo sapiens_hsa041101.13808186
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.04568479
37Glucagon signaling pathway_Homo sapiens_hsa049221.00160152
38Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.98772814
39Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.97657744
40Lysine degradation_Homo sapiens_hsa003100.96237259
41Arachidonic acid metabolism_Homo sapiens_hsa005900.94746477
42HIF-1 signaling pathway_Homo sapiens_hsa040660.94315345
43Tryptophan metabolism_Homo sapiens_hsa003800.90524679
44Hedgehog signaling pathway_Homo sapiens_hsa043400.88419355
45Ribosome_Homo sapiens_hsa030100.82013547
46Bladder cancer_Homo sapiens_hsa052190.80075423
47Sulfur metabolism_Homo sapiens_hsa009200.79884470
48Fat digestion and absorption_Homo sapiens_hsa049750.77438092
49Mismatch repair_Homo sapiens_hsa034300.77314944
50Small cell lung cancer_Homo sapiens_hsa052220.74687335
51Prostate cancer_Homo sapiens_hsa052150.73723600
52Aldosterone synthesis and secretion_Homo sapiens_hsa049250.71113281
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69804686
54Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.69214576
55Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.66593242
56Vitamin digestion and absorption_Homo sapiens_hsa049770.65738358
57Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65514479
58Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61344583
59Prolactin signaling pathway_Homo sapiens_hsa049170.60666917
60Basal cell carcinoma_Homo sapiens_hsa052170.58553488
61Rap1 signaling pathway_Homo sapiens_hsa040150.57470863
62Bile secretion_Homo sapiens_hsa049760.55320312
63N-Glycan biosynthesis_Homo sapiens_hsa005100.53328641
64Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.52570818
65Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.50792940
66AMPK signaling pathway_Homo sapiens_hsa041520.49548144
67Glycerophospholipid metabolism_Homo sapiens_hsa005640.47724228
68Steroid biosynthesis_Homo sapiens_hsa001000.46767252
69Hippo signaling pathway_Homo sapiens_hsa043900.46513889
70Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45842006
71Collecting duct acid secretion_Homo sapiens_hsa049660.44320198
72Tight junction_Homo sapiens_hsa045300.43749081
73Protein digestion and absorption_Homo sapiens_hsa049740.43559235
74RNA transport_Homo sapiens_hsa030130.42001614
75MAPK signaling pathway_Homo sapiens_hsa040100.41765824
76Pathways in cancer_Homo sapiens_hsa052000.41193409
77Metabolic pathways_Homo sapiens_hsa011000.39641841
78Staphylococcus aureus infection_Homo sapiens_hsa051500.39144807
79Measles_Homo sapiens_hsa051620.36312126
80Insulin secretion_Homo sapiens_hsa049110.35602316
81Jak-STAT signaling pathway_Homo sapiens_hsa046300.33245970
82Choline metabolism in cancer_Homo sapiens_hsa052310.33143964
83ECM-receptor interaction_Homo sapiens_hsa045120.32629469
84Homologous recombination_Homo sapiens_hsa034400.32213133
85Galactose metabolism_Homo sapiens_hsa000520.28905107
86Phototransduction_Homo sapiens_hsa047440.27801153
87RNA degradation_Homo sapiens_hsa030180.26832808
88Fatty acid biosynthesis_Homo sapiens_hsa000610.23193640
89mRNA surveillance pathway_Homo sapiens_hsa030150.21809737
90Nicotine addiction_Homo sapiens_hsa050330.20908519
91Long-term depression_Homo sapiens_hsa047300.20857695
92Glutathione metabolism_Homo sapiens_hsa004800.20101072
93Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.18006095
94Nitrogen metabolism_Homo sapiens_hsa009100.16301877
95Insulin resistance_Homo sapiens_hsa049310.15830867
96Calcium signaling pathway_Homo sapiens_hsa040200.15267619
97Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.13419163
98Sphingolipid metabolism_Homo sapiens_hsa006000.13395577
99Focal adhesion_Homo sapiens_hsa045100.12263941
100Cardiac muscle contraction_Homo sapiens_hsa042600.11819066

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