ERVW-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 chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1monoubiquitinated protein deubiquitination (GO:0035520)5.83856709
2cilium or flagellum-dependent cell motility (GO:0001539)5.36825179
3indole-containing compound catabolic process (GO:0042436)5.22654367
4indolalkylamine catabolic process (GO:0046218)5.22654367
5tryptophan catabolic process (GO:0006569)5.22654367
6regulation of hippo signaling (GO:0035330)5.14185768
7signal peptide processing (GO:0006465)5.04229074
8regulation of gene silencing by RNA (GO:0060966)5.01727942
9regulation of posttranscriptional gene silencing (GO:0060147)5.01727942
10regulation of gene silencing by miRNA (GO:0060964)5.01727942
11indolalkylamine metabolic process (GO:0006586)4.93509294
12interkinetic nuclear migration (GO:0022027)4.85133836
13kynurenine metabolic process (GO:0070189)4.69593104
14protein K48-linked deubiquitination (GO:0071108)4.48502627
15tryptophan metabolic process (GO:0006568)4.39150862
16positive regulation of developmental pigmentation (GO:0048087)4.26950489
17detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.20522520
18regulation of pigment cell differentiation (GO:0050932)4.17212622
19UDP-N-acetylglucosamine metabolic process (GO:0006047)4.07897721
20snRNA transcription (GO:0009301)4.03389860
21neural tube formation (GO:0001841)3.86153430
22negative regulation of translation, ncRNA-mediated (GO:0040033)3.79640663
23regulation of translation, ncRNA-mediated (GO:0045974)3.79640663
24negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.79640663
25regulation of establishment of cell polarity (GO:2000114)3.79284687
26photoreceptor cell maintenance (GO:0045494)3.76303361
27establishment of protein localization to Golgi (GO:0072600)3.68057869
28lipid translocation (GO:0034204)3.60327799
29phospholipid translocation (GO:0045332)3.60327799
30protein K63-linked deubiquitination (GO:0070536)3.56365058
31detection of light stimulus involved in sensory perception (GO:0050962)3.55822151
32detection of light stimulus involved in visual perception (GO:0050908)3.55822151
33regulation of establishment or maintenance of cell polarity (GO:0032878)3.51714480
34indole-containing compound metabolic process (GO:0042430)3.43270988
35positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.42498760
36cellular response to ethanol (GO:0071361)3.42020066
37protein K11-linked deubiquitination (GO:0035871)3.40155396
38NAD biosynthetic process (GO:0009435)3.30300236
39tachykinin receptor signaling pathway (GO:0007217)3.29524031
40thyroid hormone metabolic process (GO:0042403)3.28274231
41benzene-containing compound metabolic process (GO:0042537)3.22715353
42oxidative demethylation (GO:0070989)3.15422948
43negative regulation of keratinocyte proliferation (GO:0010839)3.14994728
44estrogen biosynthetic process (GO:0006703)3.07947112
45cellular response to sterol (GO:0036315)3.06969929
46reflex (GO:0060004)3.04581604
47regulation of sarcomere organization (GO:0060297)3.04359208
48negative regulation of sodium ion transport (GO:0010766)3.03832016
49auditory receptor cell stereocilium organization (GO:0060088)3.03244105
50androgen biosynthetic process (GO:0006702)3.02347377
51protein prenylation (GO:0018342)3.00451013
52prenylation (GO:0097354)3.00451013
53cilium movement (GO:0003341)2.95816949
54fucose catabolic process (GO:0019317)2.94053202
55L-fucose metabolic process (GO:0042354)2.94053202
56L-fucose catabolic process (GO:0042355)2.94053202
57pericardium development (GO:0060039)2.93696363
58retinal cone cell development (GO:0046549)2.92735189
59cellular biogenic amine catabolic process (GO:0042402)2.91551976
60amine catabolic process (GO:0009310)2.91551976
61gene silencing by RNA (GO:0031047)2.90688368
62epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.89345980
63nucleus localization (GO:0051647)2.88533414
64negative regulation of complement activation (GO:0045916)2.87393634
65flavonoid metabolic process (GO:0009812)2.86728727
66serotonin metabolic process (GO:0042428)2.85981690
67phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.84700659
68behavioral response to nicotine (GO:0035095)2.81987319
69microtubule anchoring (GO:0034453)2.76498525
70central nervous system neuron axonogenesis (GO:0021955)2.74438250
71detection of mechanical stimulus involved in sensory perception (GO:0050974)2.73653217
72double-strand break repair via homologous recombination (GO:0000724)2.73619067
73piRNA metabolic process (GO:0034587)2.73319827
74cytoplasmic mRNA processing body assembly (GO:0033962)2.72544702
75DNA methylation involved in gamete generation (GO:0043046)2.70291781
76aromatic amino acid family metabolic process (GO:0009072)2.69171471
77histone H3-K9 methylation (GO:0051567)2.69050054
78behavioral response to ethanol (GO:0048149)2.68364393
79recombinational repair (GO:0000725)2.68223286
80reciprocal DNA recombination (GO:0035825)2.65593016
81reciprocal meiotic recombination (GO:0007131)2.65593016
82regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)2.64476643
83negative regulation of cytosolic calcium ion concentration (GO:0051481)2.62840385
84aromatic amino acid family catabolic process (GO:0009074)2.61648517
85axoneme assembly (GO:0035082)2.61036219
86regulation of meiosis I (GO:0060631)2.58730578
87sphingoid metabolic process (GO:0046519)2.58581926
88negative regulation of protein activation cascade (GO:2000258)2.58492625
89regulation of female gonad development (GO:2000194)2.57704806
90negative regulation of calcium ion transport into cytosol (GO:0010523)2.52977955
91primary amino compound metabolic process (GO:1901160)2.52361527
92inner ear receptor stereocilium organization (GO:0060122)2.52284786
93L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.50981099
94drug catabolic process (GO:0042737)2.50611976
95negative regulation of protein localization to cell surface (GO:2000009)2.50400225
96regulation of skeletal muscle contraction (GO:0014819)2.49130868
97cellular ketone body metabolic process (GO:0046950)2.44687680
98striated muscle atrophy (GO:0014891)2.43060389
99cilium organization (GO:0044782)2.42383811
100respiratory tube development (GO:0030323)2.39618386

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.38562185
2VDR_22108803_ChIP-Seq_LS180_Human2.93205154
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.89108045
4CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.84321669
5ZNF274_21170338_ChIP-Seq_K562_Hela2.46441882
6SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.41929477
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.38943197
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.38062684
9AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.34783008
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.28723389
11IGF1R_20145208_ChIP-Seq_DFB_Human2.27848554
12CTBP2_25329375_ChIP-Seq_LNCAP_Human2.23782322
13TAF15_26573619_Chip-Seq_HEK293_Human2.18569390
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.17853475
15STAT3_23295773_ChIP-Seq_U87_Human2.12918247
16PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.09913178
17EZH2_22144423_ChIP-Seq_EOC_Human2.09558159
18BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.05347009
19P300_19829295_ChIP-Seq_ESCs_Human2.01907129
20FLI1_27457419_Chip-Seq_LIVER_Mouse2.00804387
21PIAS1_25552417_ChIP-Seq_VCAP_Human1.98252473
22SMAD4_21799915_ChIP-Seq_A2780_Human1.92154885
23ER_23166858_ChIP-Seq_MCF-7_Human1.90508375
24EWS_26573619_Chip-Seq_HEK293_Human1.88436766
25PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.88245784
26TCF4_23295773_ChIP-Seq_U87_Human1.82332209
27FUS_26573619_Chip-Seq_HEK293_Human1.82315307
28UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.78332020
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.76191315
30RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.72980412
31AR_21572438_ChIP-Seq_LNCaP_Human1.72865045
32BCAT_22108803_ChIP-Seq_LS180_Human1.72575368
33TP53_16413492_ChIP-PET_HCT116_Human1.68068415
34NR3C1_21868756_ChIP-Seq_MCF10A_Human1.66862109
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.66430621
36TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.65151670
37POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.65151670
38AHR_22903824_ChIP-Seq_MCF-7_Human1.64559939
39IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.60873522
40CBP_20019798_ChIP-Seq_JUKART_Human1.60873522
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.60178813
42ZNF217_24962896_ChIP-Seq_MCF-7_Human1.59780529
43PCGF2_27294783_Chip-Seq_ESCs_Mouse1.58518554
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.53425365
45ARNT_22903824_ChIP-Seq_MCF-7_Human1.51331673
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.50146831
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.50013741
48TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.48563474
49AR_25329375_ChIP-Seq_VCAP_Human1.44118962
50TCF4_22108803_ChIP-Seq_LS180_Human1.43723478
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38415054
52SMAD_19615063_ChIP-ChIP_OVARY_Human1.37931749
53RUNX2_22187159_ChIP-Seq_PCA_Human1.35308011
54PRDM14_20953172_ChIP-Seq_ESCs_Human1.35250642
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32605651
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30794587
57ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.30742294
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.30464150
59CDX2_22108803_ChIP-Seq_LS180_Human1.30332593
60DROSHA_22980978_ChIP-Seq_HELA_Human1.30021293
61BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.29969289
62FOXM1_26456572_ChIP-Seq_MCF-7_Human1.28344887
63TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.27631232
64SMAD4_21741376_ChIP-Seq_EPCs_Human1.27337485
65SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25652667
66CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23220218
67SMAD3_21741376_ChIP-Seq_HESCs_Human1.23205484
68KLF5_20875108_ChIP-Seq_MESCs_Mouse1.22243710
69FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.21774039
70FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.21142427
71RXR_22108803_ChIP-Seq_LS180_Human1.20868719
72NFE2_27457419_Chip-Seq_LIVER_Mouse1.20521545
73CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.19161138
74CTNNB1_20460455_ChIP-Seq_HCT116_Human1.19090453
75MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.18506151
76PCGF2_27294783_Chip-Seq_NPCs_Mouse1.18487886
77FLI1_21867929_ChIP-Seq_TH2_Mouse1.18287201
78EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.18253579
79EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.15199939
80SOX2_21211035_ChIP-Seq_LN229_Gbm1.14892038
81NANOG_18555785_Chip-Seq_ESCs_Mouse1.14495123
82TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14295316
83NANOG_19829295_ChIP-Seq_ESCs_Human1.10543272
84SOX2_19829295_ChIP-Seq_ESCs_Human1.10543272
85EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.10055140
86KDM2B_26808549_Chip-Seq_REH_Human1.07560902
87ESR1_20079471_ChIP-ChIP_T-47D_Human1.06754572
88SMAD4_21741376_ChIP-Seq_HESCs_Human1.06343429
89CRX_20693478_ChIP-Seq_RETINA_Mouse1.05941374
90E2F1_18555785_Chip-Seq_ESCs_Mouse1.05184220
91CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.04763312
92FOXA1_21572438_ChIP-Seq_LNCaP_Human1.04543106
93EGR1_23403033_ChIP-Seq_LIVER_Mouse1.04092423
94TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03941267
95IRF1_19129219_ChIP-ChIP_H3396_Human1.03862862
96TP53_18474530_ChIP-ChIP_U2OS_Human1.03512953
97NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.03399347
98NRF2_20460467_ChIP-Seq_MEFs_Mouse1.03399347
99CJUN_26792858_Chip-Seq_BT549_Human1.02642507
100OCT4_21477851_ChIP-Seq_ESCs_Mouse1.00849981

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication5.86014877
2MP0000569_abnormal_digit_pigmentation4.94209175
3MP0003195_calcinosis3.38953929
4MP0003950_abnormal_plasma_membrane3.14423780
5MP0003646_muscle_fatigue3.04231410
6MP0001501_abnormal_sleep_pattern2.58234585
7MP0009697_abnormal_copulation2.52385340
8MP0000383_abnormal_hair_follicle2.47583419
9MP0000427_abnormal_hair_cycle2.43564185
10MP0005551_abnormal_eye_electrophysiolog2.34005234
11MP0003136_yellow_coat_color2.19818420
12MP0005174_abnormal_tail_pigmentation2.14340090
13MP0008877_abnormal_DNA_methylation2.12726509
14MP0004043_abnormal_pH_regulation2.12160445
15MP0009046_muscle_twitch2.09371128
16MP0005670_abnormal_white_adipose1.90303104
17MP0005377_hearing/vestibular/ear_phenot1.80014718
18MP0003878_abnormal_ear_physiology1.80014718
19MP0003718_maternal_effect1.75661992
20MP0006276_abnormal_autonomic_nervous1.67845626
21MP0003045_fibrosis1.65966827
22MP0003890_abnormal_embryonic-extraembry1.64458990
23MP0002736_abnormal_nociception_after1.62468713
24MP0001968_abnormal_touch/_nociception1.54324211
25MP0006054_spinal_hemorrhage1.53623081
26MP0005310_abnormal_salivary_gland1.51861276
27MP0004147_increased_porphyrin_level1.49283608
28MP0001485_abnormal_pinna_reflex1.49004103
29MP0010386_abnormal_urinary_bladder1.48140986
30MP0005253_abnormal_eye_physiology1.47428417
31MP0010678_abnormal_skin_adnexa1.44812758
32MP0005647_abnormal_sex_gland1.44126286
33MP0010094_abnormal_chromosome_stability1.43739264
34MP0002168_other_aberrant_phenotype1.42491400
35MP0005395_other_phenotype1.39839385
36MP0003252_abnormal_bile_duct1.36573025
37MP0002876_abnormal_thyroid_physiology1.35583637
38MP0002138_abnormal_hepatobiliary_system1.33364122
39MP0000371_diluted_coat_color1.32684069
40MP0004145_abnormal_muscle_electrophysio1.29776699
41MP0005171_absent_coat_pigmentation1.28678111
42MP0005646_abnormal_pituitary_gland1.24039561
43MP0005085_abnormal_gallbladder_physiolo1.19668344
44MP0005266_abnormal_metabolism1.17037133
45MP0004130_abnormal_muscle_cell1.16657123
46MP0009745_abnormal_behavioral_response1.16077718
47MP0003698_abnormal_male_reproductive1.14559312
48MP0000631_abnormal_neuroendocrine_gland1.14172809
49MP0000372_irregular_coat_pigmentation1.13550892
50MP0008872_abnormal_physiological_respon1.13483819
51MP0000230_abnormal_systemic_arterial1.12448471
52MP0009115_abnormal_fat_cell1.12417156
53MP0002160_abnormal_reproductive_system1.11253728
54MP0002938_white_spotting1.11177224
55MP0008961_abnormal_basal_metabolism1.09563658
56MP0001486_abnormal_startle_reflex1.08688415
57MP0001929_abnormal_gametogenesis1.07063504
58MP0000538_abnormal_urinary_bladder1.04540846
59MP0002735_abnormal_chemical_nociception1.03272579
60MP0003937_abnormal_limbs/digits/tail_de1.00939783
61MP0005167_abnormal_blood-brain_barrier1.00508884
62MP0002928_abnormal_bile_duct0.99960564
63MP0004215_abnormal_myocardial_fiber0.96894877
64MP0002210_abnormal_sex_determination0.95753355
65MP0005389_reproductive_system_phenotype0.95473142
66MP0000015_abnormal_ear_pigmentation0.95311340
67MP0004142_abnormal_muscle_tone0.94674080
68MP0000647_abnormal_sebaceous_gland0.93632761
69MP0005386_behavior/neurological_phenoty0.90355239
70MP0004924_abnormal_behavior0.90355239
71MP0000653_abnormal_sex_gland0.88798370
72MP0002067_abnormal_sensory_capabilities0.87424373
73MP0005645_abnormal_hypothalamus_physiol0.86246952
74MP0002102_abnormal_ear_morphology0.85520513
75MP0002075_abnormal_coat/hair_pigmentati0.83462634
76MP0002095_abnormal_skin_pigmentation0.83387611
77MP0002572_abnormal_emotion/affect_behav0.81539670
78MP0002229_neurodegeneration0.81201104
79MP0002638_abnormal_pupillary_reflex0.81052033
80MP0010368_abnormal_lymphatic_system0.81018853
81MP0004085_abnormal_heartbeat0.80425468
82MP0001984_abnormal_olfaction0.80334479
83MP0005410_abnormal_fertilization0.79875756
84MP0002272_abnormal_nervous_system0.78799195
85MP0001145_abnormal_male_reproductive0.77802579
86MP0005075_abnormal_melanosome_morpholog0.77026583
87MP0004381_abnormal_hair_follicle0.76368355
88MP0000470_abnormal_stomach_morphology0.75724491
89MP0003943_abnormal_hepatobiliary_system0.74799431
90MP0002557_abnormal_social/conspecific_i0.74003738
91MP0008058_abnormal_DNA_repair0.73737359
92MP0001324_abnormal_eye_pigmentation0.73669850
93MP0003879_abnormal_hair_cell0.71807003
94MP0003633_abnormal_nervous_system0.70559481
95MP0003119_abnormal_digestive_system0.69759682
96MP0002090_abnormal_vision0.68882830
97MP0001119_abnormal_female_reproductive0.67049542
98MP0001661_extended_life_span0.66684365
99MP0005195_abnormal_posterior_eye0.66666616
100MP0006072_abnormal_retinal_apoptosis0.65652963

Predicted human phenotypes

RankGene SetZ-score
1Genetic anticipation (HP:0003743)5.40594679
2Gaze-evoked nystagmus (HP:0000640)4.33805425
3Pancreatic cysts (HP:0001737)4.23688668
4Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)4.21925108
5Progressive cerebellar ataxia (HP:0002073)4.13758132
6Increased neuronal autofluorescent lipopigment (HP:0002074)3.95652724
7Hyperventilation (HP:0002883)3.91120974
8Pancreatic fibrosis (HP:0100732)3.62631612
9Clumsiness (HP:0002312)3.55359470
10Chronic hepatic failure (HP:0100626)3.53271760
11True hermaphroditism (HP:0010459)3.43621579
12Central scotoma (HP:0000603)3.39823374
13Attenuation of retinal blood vessels (HP:0007843)3.29002159
14Protruding tongue (HP:0010808)3.21765726
15Fair hair (HP:0002286)3.13876774
16Aplasia/Hypoplasia of the tibia (HP:0005772)3.13748374
17Increased cerebral lipofuscin (HP:0011813)3.00474695
18Cystic liver disease (HP:0006706)2.94933028
19Abnormality of midbrain morphology (HP:0002418)2.92027551
20Molar tooth sign on MRI (HP:0002419)2.92027551
21Abnormality of the renal cortex (HP:0011035)2.83458910
22Dysmetric saccades (HP:0000641)2.80528033
23Abnormal ciliary motility (HP:0012262)2.74700102
24Abnormality of the renal medulla (HP:0100957)2.71347869
25Bony spicule pigmentary retinopathy (HP:0007737)2.71132253
26Congenital stationary night blindness (HP:0007642)2.70799507
27Nephronophthisis (HP:0000090)2.67669078
28Febrile seizures (HP:0002373)2.63259099
29Decreased circulating renin level (HP:0003351)2.61308452
30Scotoma (HP:0000575)2.58321045
31Congenital sensorineural hearing impairment (HP:0008527)2.54274002
32Birth length less than 3rd percentile (HP:0003561)2.52200751
33Absent/shortened dynein arms (HP:0200106)2.51077327
34Dynein arm defect of respiratory motile cilia (HP:0012255)2.51077327
35Chromosomal breakage induced by crosslinking agents (HP:0003221)2.50428924
36Chromsome breakage (HP:0040012)2.44434679
37Generalized hypopigmentation of hair (HP:0011358)2.39264789
38Preaxial foot polydactyly (HP:0001841)2.39213633
39Abolished electroretinogram (ERG) (HP:0000550)2.38061937
40Abnormality of alanine metabolism (HP:0010916)2.36033645
41Hyperalaninemia (HP:0003348)2.36033645
42Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.36033645
43Aplasia/Hypoplasia of the tongue (HP:0010295)2.35218457
44Abnormality of the ischium (HP:0003174)2.33953089
45Hypoplastic labia majora (HP:0000059)2.29668303
46Abnormal respiratory motile cilium physiology (HP:0012261)2.27907724
47Facial diplegia (HP:0001349)2.27886408
48Cerebellar dysplasia (HP:0007033)2.23652960
49Hypoplastic ischia (HP:0003175)2.20999704
50Widely spaced teeth (HP:0000687)2.19233891
51Abnormality of the labia majora (HP:0012881)2.18360978
52Ileus (HP:0002595)2.18218167
53Furrowed tongue (HP:0000221)2.17923009
54Hyperkalemia (HP:0002153)2.17319897
55Congenital hepatic fibrosis (HP:0002612)2.16529899
56Progressive inability to walk (HP:0002505)2.15687176
57Absent speech (HP:0001344)2.15327544
58Keratoconus (HP:0000563)2.13677527
59Increased corneal curvature (HP:0100692)2.13677527
60Enlarged kidneys (HP:0000105)2.12669119
61Absent radius (HP:0003974)2.12025267
62Inability to walk (HP:0002540)2.10895271
63Tubular atrophy (HP:0000092)2.10528177
64Medial flaring of the eyebrow (HP:0010747)2.08426444
65Absent forearm bone (HP:0003953)2.04845912
66Aplasia involving forearm bones (HP:0009822)2.04845912
67Small hand (HP:0200055)2.02816603
68Urinary bladder sphincter dysfunction (HP:0002839)2.01623201
69Tubulointerstitial nephritis (HP:0001970)2.01344631
70Ectopic kidney (HP:0000086)2.01084530
71Bile duct proliferation (HP:0001408)2.00513458
72Abnormal biliary tract physiology (HP:0012439)2.00513458
73Patellar aplasia (HP:0006443)2.00137758
74Abnormality of the renal collecting system (HP:0004742)1.98919469
75Clubbing of toes (HP:0100760)1.95999914
76Sloping forehead (HP:0000340)1.95632427
77Dialeptic seizures (HP:0011146)1.95320688
78Highly arched eyebrow (HP:0002553)1.92647539
79Duplicated collecting system (HP:0000081)1.92033563
80Anencephaly (HP:0002323)1.90740968
81Rhinitis (HP:0012384)1.90570216
82Polydipsia (HP:0001959)1.89532092
83Abnormal drinking behavior (HP:0030082)1.89532092
84Cupped ear (HP:0000378)1.88777418
85Postaxial foot polydactyly (HP:0001830)1.88528799
86Hypoplasia of the pons (HP:0012110)1.88085631
87Stomach cancer (HP:0012126)1.87846537
88Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.87381927
89Aplasia/Hypoplasia of the uvula (HP:0010293)1.84378636
90Abnormality of the pubic bones (HP:0003172)1.81926361
91Abnormality of the pons (HP:0007361)1.80621607
92Sclerocornea (HP:0000647)1.79043902
93Decreased central vision (HP:0007663)1.78530772
94Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.78417813
95Large for gestational age (HP:0001520)1.76804149
96Absence seizures (HP:0002121)1.75708939
97Preaxial hand polydactyly (HP:0001177)1.75409621
98Broad-based gait (HP:0002136)1.75307984
99Abnormal respiratory motile cilium morphology (HP:0005938)1.74978549
100Abnormal respiratory epithelium morphology (HP:0012253)1.74978549

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B4.21088133
2BMPR1B3.10506879
3AKT32.37717118
4FRK10.4496487
5LATS11.99854421
6MKNK21.95425795
7CDK121.84492011
8ADRBK21.82395995
9STK38L1.82004541
10INSRR1.80702570
11PIK3CG1.60398698
12ZAK1.58974285
13OXSR11.52781576
14NTRK31.49526946
15STK391.45849916
16TAOK31.42124745
17NUAK11.32267783
18GRK11.27408726
19NLK1.26810625
20TNIK1.24332911
21MAP3K71.19031706
22CAMK1G1.16666281
23MELK1.12490965
24TGFBR11.11907851
25STK31.11557118
26BRD41.06937060
27WNK31.04666904
28BRSK21.02672691
29MAPK131.01858191
30ADRBK11.01558396
31MAP4K21.01201778
32TEC1.00918799
33PTK2B0.96802793
34SGK20.94903477
35CAMK1D0.92834296
36PRKAA20.89351665
37FER0.87989435
38CASK0.87541663
39MAP3K40.85352824
40TRPM70.81012579
41MKNK10.79091095
42STK380.78239601
43WNK40.77415361
44DAPK20.77251820
45PDK20.75602780
46OBSCN0.74813583
47PIK3CA0.71713435
48PNCK0.70663483
49FGFR20.60139495
50PRKCE0.60024826
51CHEK20.56076477
52MAPK110.55688272
53TNK20.52748749
54PBK0.52385052
55CAMK40.50270643
56PRKAA10.49452176
57EIF2AK30.48520544
58WNK10.47889524
59NEK60.46102911
60CAMK10.46054258
61PAK30.45845762
62IRAK10.44816829
63EPHA40.43007343
64SGK4940.42940012
65SGK2230.42940012
66PKN10.41696986
67MAP2K10.40930451
68MARK30.40807287
69PINK10.40627314
70ERBB20.40159111
71TIE10.39735361
72PLK40.39672830
73ATM0.39663190
74ATR0.37804714
75SGK10.37003166
76CHUK0.36866318
77SGK30.36730169
78WEE10.35605725
79BLK0.35551578
80PRKCG0.35522072
81PDGFRB0.35236793
82PIM10.33784492
83PRKACB0.33271870
84CAMK2A0.32429744
85CDC70.31860193
86ITK0.31597966
87CSNK1D0.31245469
88PLK10.31099508
89KIT0.29138524
90MST40.29128961
91PLK20.28471679
92GSK3B0.28384081
93NME10.27777432
94BTK0.27320953
95MUSK0.26797043
96MAPK10.26454694
97STK110.26090507
98IKBKB0.24938946
99MTOR0.24743634
100DYRK1A0.24631048

Predicted pathways (KEGG)

RankGene SetZ-score
1ABC transporters_Homo sapiens_hsa020103.05462380
2Steroid hormone biosynthesis_Homo sapiens_hsa001402.41656191
3Tryptophan metabolism_Homo sapiens_hsa003802.37539549
4Butanoate metabolism_Homo sapiens_hsa006502.33930255
5Homologous recombination_Homo sapiens_hsa034402.33468656
6Ovarian steroidogenesis_Homo sapiens_hsa049132.07380753
7Nitrogen metabolism_Homo sapiens_hsa009102.06485786
8Linoleic acid metabolism_Homo sapiens_hsa005911.95248731
9Primary bile acid biosynthesis_Homo sapiens_hsa001201.95148125
10Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.93629010
11Phototransduction_Homo sapiens_hsa047441.92592071
12Nicotine addiction_Homo sapiens_hsa050331.90159831
13Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.82984152
14Lysine degradation_Homo sapiens_hsa003101.80344284
15Fanconi anemia pathway_Homo sapiens_hsa034601.78595392
16Taste transduction_Homo sapiens_hsa047421.77786426
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.74689671
18Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.72147557
19Histidine metabolism_Homo sapiens_hsa003401.67827466
20Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.65866818
21Selenocompound metabolism_Homo sapiens_hsa004501.52217217
22Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.44503349
23Olfactory transduction_Homo sapiens_hsa047401.43579879
24Ether lipid metabolism_Homo sapiens_hsa005651.38832198
25Dorso-ventral axis formation_Homo sapiens_hsa043201.38730535
26Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.37752389
27Retinol metabolism_Homo sapiens_hsa008301.31785331
28Glycerolipid metabolism_Homo sapiens_hsa005611.31731592
29Chemical carcinogenesis_Homo sapiens_hsa052041.30798897
30Calcium signaling pathway_Homo sapiens_hsa040201.26640339
31Morphine addiction_Homo sapiens_hsa050321.23022266
32Vascular smooth muscle contraction_Homo sapiens_hsa042701.22206053
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21022513
34Serotonergic synapse_Homo sapiens_hsa047261.18440417
35Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.17844621
36Salivary secretion_Homo sapiens_hsa049701.15466900
37Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.13726542
38Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.10620719
39beta-Alanine metabolism_Homo sapiens_hsa004101.10312919
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10245292
41Propanoate metabolism_Homo sapiens_hsa006401.09753878
42Glutamatergic synapse_Homo sapiens_hsa047241.08889215
43Circadian entrainment_Homo sapiens_hsa047131.04473301
44Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.00079966
45Non-homologous end-joining_Homo sapiens_hsa034500.99773636
46Circadian rhythm_Homo sapiens_hsa047100.98446921
47Caffeine metabolism_Homo sapiens_hsa002320.95429006
48Fatty acid biosynthesis_Homo sapiens_hsa000610.94444810
49Basal transcription factors_Homo sapiens_hsa030220.86921225
50Phosphatidylinositol signaling system_Homo sapiens_hsa040700.86414292
51Sphingolipid metabolism_Homo sapiens_hsa006000.83974720
52GABAergic synapse_Homo sapiens_hsa047270.79110190
53Long-term depression_Homo sapiens_hsa047300.78910314
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.76726874
55Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.75183699
56Arachidonic acid metabolism_Homo sapiens_hsa005900.73752984
57Type II diabetes mellitus_Homo sapiens_hsa049300.72020250
58Insulin secretion_Homo sapiens_hsa049110.71129618
59Aldosterone synthesis and secretion_Homo sapiens_hsa049250.70346639
60RNA polymerase_Homo sapiens_hsa030200.69989950
61Glycerophospholipid metabolism_Homo sapiens_hsa005640.69001354
62FoxO signaling pathway_Homo sapiens_hsa040680.67280838
63TGF-beta signaling pathway_Homo sapiens_hsa043500.66685477
64Cholinergic synapse_Homo sapiens_hsa047250.66485000
65Platelet activation_Homo sapiens_hsa046110.66374924
66Gastric acid secretion_Homo sapiens_hsa049710.65232718
67One carbon pool by folate_Homo sapiens_hsa006700.64363726
68cGMP-PKG signaling pathway_Homo sapiens_hsa040220.63752795
69Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.62467952
70Oxytocin signaling pathway_Homo sapiens_hsa049210.60991501
71Fatty acid degradation_Homo sapiens_hsa000710.58858748
72cAMP signaling pathway_Homo sapiens_hsa040240.57844739
73Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.57197949
74Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.56698801
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55236854
76Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54491687
77Pancreatic secretion_Homo sapiens_hsa049720.51813740
78Jak-STAT signaling pathway_Homo sapiens_hsa046300.51595441
79Inositol phosphate metabolism_Homo sapiens_hsa005620.51360136
80Renin secretion_Homo sapiens_hsa049240.49695589
81Regulation of autophagy_Homo sapiens_hsa041400.48568866
82Complement and coagulation cascades_Homo sapiens_hsa046100.46349779
83Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.46181542
84Vitamin digestion and absorption_Homo sapiens_hsa049770.45693457
85Melanoma_Homo sapiens_hsa052180.45551166
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.44755359
87Bile secretion_Homo sapiens_hsa049760.44187091
88Transcriptional misregulation in cancer_Homo sapiens_hsa052020.43266991
89Carbohydrate digestion and absorption_Homo sapiens_hsa049730.41957887
90Maturity onset diabetes of the young_Homo sapiens_hsa049500.40938041
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.39466049
92p53 signaling pathway_Homo sapiens_hsa041150.39175047
93Ras signaling pathway_Homo sapiens_hsa040140.38754838
94Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38446453
95Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37642539
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36890395
97Purine metabolism_Homo sapiens_hsa002300.36829399
98Cell cycle_Homo sapiens_hsa041100.35948290
99Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.35933713
100Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.35106630

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