ERVFRD-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 a human endogenous retrovirus provirus on chromosome 6 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 plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1limb bud formation (GO:0060174)7.48003444
2regulation of hippo signaling (GO:0035330)6.05389658
3cornea development in camera-type eye (GO:0061303)5.80854790
4cell migration in hindbrain (GO:0021535)5.08081510
5estrogen biosynthetic process (GO:0006703)5.04712576
6bone trabecula formation (GO:0060346)5.01268430
7neural tube formation (GO:0001841)4.71365516
8activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)4.70369093
9endocrine hormone secretion (GO:0060986)4.21518189
10thyroid hormone generation (GO:0006590)4.12931700
11keratinocyte development (GO:0003334)4.12191540
12thyroid hormone metabolic process (GO:0042403)4.07077734
13positive regulation of meiotic cell cycle (GO:0051446)3.90723813
14glucocorticoid receptor signaling pathway (GO:0042921)3.86663966
15centrosome localization (GO:0051642)3.84870726
16indole-containing compound catabolic process (GO:0042436)3.76907690
17indolalkylamine catabolic process (GO:0046218)3.76907690
18tryptophan catabolic process (GO:0006569)3.76907690
19photoreceptor cell maintenance (GO:0045494)3.68554786
20snRNA transcription (GO:0009301)3.66127235
21negative regulation of transcription regulatory region DNA binding (GO:2000678)3.64721087
22vitamin transmembrane transport (GO:0035461)3.62051519
23positive regulation of transcription from RNA polymerase III promoter (GO:0045945)3.57306399
24detection of light stimulus involved in visual perception (GO:0050908)3.53772321
25detection of light stimulus involved in sensory perception (GO:0050962)3.53772321
26L-fucose catabolic process (GO:0042355)3.51817530
27fucose catabolic process (GO:0019317)3.51817530
28L-fucose metabolic process (GO:0042354)3.51817530
29protein K11-linked deubiquitination (GO:0035871)3.49991609
30negative regulation of mast cell activation (GO:0033004)3.47587350
31basic amino acid transport (GO:0015802)3.42808393
32regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.37619816
33monoubiquitinated protein deubiquitination (GO:0035520)3.36003954
34signal peptide processing (GO:0006465)3.35768595
35DNA replication initiation (GO:0006270)3.35076351
36NLS-bearing protein import into nucleus (GO:0006607)3.33356208
37phospholipid translocation (GO:0045332)3.30546139
38lipid translocation (GO:0034204)3.30546139
39nerve growth factor signaling pathway (GO:0038180)3.28966417
40sprouting angiogenesis (GO:0002040)3.25758104
41pharyngeal system development (GO:0060037)3.25605476
42auditory receptor cell stereocilium organization (GO:0060088)3.25542919
43regulation of odontogenesis (GO:0042481)3.20943344
44negative regulation of dendrite development (GO:2000171)3.16544146
45positive regulation of megakaryocyte differentiation (GO:0045654)3.15551194
46sympathetic nervous system development (GO:0048485)3.15089248
47positive regulation of oligodendrocyte differentiation (GO:0048714)3.11761638
48phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.11548308
49interkinetic nuclear migration (GO:0022027)3.11065806
50negative regulation of calcium ion transport into cytosol (GO:0010523)3.04230712
51tachykinin receptor signaling pathway (GO:0007217)3.03499091
52tryptophan metabolic process (GO:0006568)3.03260250
53regulation of establishment of cell polarity (GO:2000114)3.02051322
54cytoplasmic mRNA processing body assembly (GO:0033962)3.00811879
55indolalkylamine metabolic process (GO:0006586)2.94590924
56positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.93175620
57regulation of DNA endoreduplication (GO:0032875)2.92937985
58transepithelial transport (GO:0070633)2.92222953
59nuclear pore complex assembly (GO:0051292)2.90925035
60corticosteroid receptor signaling pathway (GO:0031958)2.90448632
61morphogenesis of an epithelial sheet (GO:0002011)2.87202416
62establishment of protein localization to Golgi (GO:0072600)2.85804261
63gene silencing by RNA (GO:0031047)2.82100702
64L-alpha-amino acid transmembrane transport (GO:1902475)2.80548337
65nuclear pore organization (GO:0006999)2.80530395
66histone H3-K9 methylation (GO:0051567)2.80079443
67regulation of action potential (GO:0098900)2.79652714
68ventricular septum morphogenesis (GO:0060412)2.77675947
69mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.76959305
70positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.76959305
71heme transport (GO:0015886)2.76365223
72meiotic chromosome segregation (GO:0045132)2.75470960
73positive regulation of hair cycle (GO:0042635)2.74786230
74positive regulation of hair follicle development (GO:0051798)2.74786230
75protein prenylation (GO:0018342)2.72894570
76prenylation (GO:0097354)2.72894570
77glial cell proliferation (GO:0014009)2.70741301
78female genitalia development (GO:0030540)2.69082999
79bundle of His cell to Purkinje myocyte communication (GO:0086069)2.68710772
80gonadal mesoderm development (GO:0007506)2.68579010
81UDP-N-acetylglucosamine metabolic process (GO:0006047)2.68008523
82positive regulation of cell size (GO:0045793)2.67895128
83regulation of penile erection (GO:0060405)2.66520978
84mitotic sister chromatid cohesion (GO:0007064)2.65220923
85establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.65143060
86mitochondrion transport along microtubule (GO:0047497)2.65143060
87somite development (GO:0061053)2.63359621
88biotin metabolic process (GO:0006768)2.62980689
89negative regulation of dendrite morphogenesis (GO:0050774)2.62590216
90eyelid development in camera-type eye (GO:0061029)2.62351616
91endothelial cell proliferation (GO:0001935)2.60681469
92androgen receptor signaling pathway (GO:0030521)2.60495184
93regulation of establishment or maintenance of cell polarity (GO:0032878)2.60383607
94positive regulation of developmental pigmentation (GO:0048087)2.55572469
95regulation of gene expression by genetic imprinting (GO:0006349)2.54566567
96N-terminal protein amino acid acetylation (GO:0006474)2.54220642
97L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.54017387
98L-ascorbic acid metabolic process (GO:0019852)2.53822647
99histone H3-K4 trimethylation (GO:0080182)2.53682425
100hippo signaling (GO:0035329)2.52835178

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SALL1_21062744_ChIP-ChIP_HESCs_Human3.35258358
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.25193578
3SCL_19346495_ChIP-Seq_HPC-7_Human2.90162439
4CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.87648095
5GBX2_23144817_ChIP-Seq_PC3_Human2.60042893
6SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.42304809
7ZNF274_21170338_ChIP-Seq_K562_Hela2.34935371
8STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.26491175
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.18964630
10AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.17323166
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.16474717
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.16161329
13POU3F2_20337985_ChIP-ChIP_501MEL_Human2.09188947
14CBP_20019798_ChIP-Seq_JUKART_Human2.06640383
15IRF4_20064451_ChIP-Seq_CD4+T_Mouse2.06640383
16VDR_22108803_ChIP-Seq_LS180_Human1.98908066
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.95336967
18PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.93250606
19ER_23166858_ChIP-Seq_MCF-7_Human1.92301517
20ZFP57_27257070_Chip-Seq_ESCs_Mouse1.91060795
21EWS_26573619_Chip-Seq_HEK293_Human1.90970094
22P300_19829295_ChIP-Seq_ESCs_Human1.87683858
23TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.87108460
24RBPJ_22232070_ChIP-Seq_NCS_Mouse1.85403516
25TAF15_26573619_Chip-Seq_HEK293_Human1.84623002
26FUS_26573619_Chip-Seq_HEK293_Human1.83863208
27AHR_22903824_ChIP-Seq_MCF-7_Human1.82623038
28STAT3_23295773_ChIP-Seq_U87_Human1.81537493
29TCF4_23295773_ChIP-Seq_U87_Human1.80726000
30ZNF217_24962896_ChIP-Seq_MCF-7_Human1.79567463
31UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.77698738
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77345430
33RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.76425653
34PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.73063154
35NR3C1_21868756_ChIP-Seq_MCF10A_Human1.64462656
36RXR_22108803_ChIP-Seq_LS180_Human1.62458164
37FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.59880373
38SMAD4_21799915_ChIP-Seq_A2780_Human1.59341584
39ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.57446030
40BCAT_22108803_ChIP-Seq_LS180_Human1.55090745
41TCF4_22108803_ChIP-Seq_LS180_Human1.54402549
42NOTCH1_21737748_ChIP-Seq_TLL_Human1.51335964
43ARNT_22903824_ChIP-Seq_MCF-7_Human1.48685787
44RUNX2_22187159_ChIP-Seq_PCA_Human1.46393024
45GATA1_26923725_Chip-Seq_HPCs_Mouse1.45994271
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45529599
47ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.44384695
48IGF1R_20145208_ChIP-Seq_DFB_Human1.42196568
49AR_21572438_ChIP-Seq_LNCaP_Human1.42032985
50SMAD3_21741376_ChIP-Seq_HESCs_Human1.38202000
51TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37438008
52KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.35982074
53PRDM14_20953172_ChIP-Seq_ESCs_Human1.34814550
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33340353
55FLI1_27457419_Chip-Seq_LIVER_Mouse1.31807415
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.29211370
57GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.29133282
58DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.27918954
59EGR1_23403033_ChIP-Seq_LIVER_Mouse1.27890719
60AR_25329375_ChIP-Seq_VCAP_Human1.21738550
61TCF4_18268006_ChIP-ChIP_LS174T_Human1.21725243
62TP63_19390658_ChIP-ChIP_HaCaT_Human1.21330560
63CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.20814991
64OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20791749
65SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20579132
66KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19698338
67SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19317160
68SMAD3_21741376_ChIP-Seq_EPCs_Human1.18710785
69FOXM1_26456572_ChIP-Seq_MCF-7_Human1.17093750
70STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.15592816
71CDX2_22108803_ChIP-Seq_LS180_Human1.14619040
72RNF2_27304074_Chip-Seq_NSC_Mouse1.11655424
73CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10859430
74FLI1_21867929_ChIP-Seq_TH2_Mouse1.09460823
75TBX3_20139965_ChIP-Seq_ESCs_Mouse1.09009539
76TBX3_20139965_ChIP-Seq_MESCs_Mouse1.09006591
77TP53_16413492_ChIP-PET_HCT116_Human1.07178328
78CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05547013
79SMAD4_21741376_ChIP-Seq_HESCs_Human1.05098794
80FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.04131803
81POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03386808
82TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03386808
83ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03379609
84PKCTHETA_26484144_Chip-Seq_BREAST_Human1.02325618
85SMAD4_21741376_ChIP-Seq_EPCs_Human1.02304222
86CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.01028713
87GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.98442445
88TBL1_22424771_ChIP-Seq_293T_Human0.98229171
89SOX2_21211035_ChIP-Seq_LN229_Gbm0.97490320
90TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97148449
91NANOG_19829295_ChIP-Seq_ESCs_Human0.96844494
92SOX2_19829295_ChIP-Seq_ESCs_Human0.96844494
93PCGF2_27294783_Chip-Seq_ESCs_Mouse0.96597762
94AR_19668381_ChIP-Seq_PC3_Human0.96344514
95STAT3_18555785_ChIP-Seq_MESCs_Mouse0.95481929
96E2F7_22180533_ChIP-Seq_HELA_Human0.94922287
97E2F4_17652178_ChIP-ChIP_JURKAT_Human0.94543490
98TP63_23658742_ChIP-Seq_EP156T_Human0.93876108
99TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.92073381
100MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.92070744

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication3.76684954
2MP0000569_abnormal_digit_pigmentation3.58292703
3MP0008004_abnormal_stomach_pH3.55125873
4MP0000647_abnormal_sebaceous_gland3.50304348
5MP0005670_abnormal_white_adipose3.22367810
6MP0004147_increased_porphyrin_level3.08605146
7MP0002876_abnormal_thyroid_physiology3.06749662
8MP0004264_abnormal_extraembryonic_tissu3.02499459
9MP0002736_abnormal_nociception_after2.90616662
10MP0000427_abnormal_hair_cycle2.84996407
11MP0000383_abnormal_hair_follicle2.75503008
12MP0005377_hearing/vestibular/ear_phenot2.42228972
13MP0003878_abnormal_ear_physiology2.42228972
14MP0000516_abnormal_urinary_system2.39620728
15MP0005367_renal/urinary_system_phenotyp2.39620728
16MP0000003_abnormal_adipose_tissue2.37229465
17MP0010307_abnormal_tumor_latency2.37037571
18MP0003718_maternal_effect2.28545012
19MP0002098_abnormal_vibrissa_morphology2.27382133
20MP0008877_abnormal_DNA_methylation2.25958027
21MP0002822_catalepsy2.22324969
22MP0005646_abnormal_pituitary_gland2.20929712
23MP0010094_abnormal_chromosome_stability2.09158065
24MP0001968_abnormal_touch/_nociception1.94932485
25MP0009115_abnormal_fat_cell1.85390796
26MP0010678_abnormal_skin_adnexa1.78288205
27MP0009672_abnormal_birth_weight1.76788760
28MP0005375_adipose_tissue_phenotype1.74999989
29MP0004185_abnormal_adipocyte_glucose1.72206060
30MP0003567_abnormal_fetal_cardiomyocyte1.71209664
31MP0005075_abnormal_melanosome_morpholog1.66224180
32MP0009697_abnormal_copulation1.64432671
33MP0004782_abnormal_surfactant_physiolog1.58269647
34MP0009703_decreased_birth_body1.51652615
35MP0005551_abnormal_eye_electrophysiolog1.41707713
36MP0003890_abnormal_embryonic-extraembry1.35855339
37MP0005174_abnormal_tail_pigmentation1.35141099
38MP0002160_abnormal_reproductive_system1.34365819
39MP0002127_abnormal_cardiovascular_syste1.30242004
40MP0000377_abnormal_hair_follicle1.28860514
41MP0004233_abnormal_muscle_weight1.28318208
42MP0002938_white_spotting1.26053656
43MP0002396_abnormal_hematopoietic_system1.20970418
44MP0008872_abnormal_physiological_respon1.19067485
45MP0005076_abnormal_cell_differentiation1.18254280
46MP0005666_abnormal_adipose_tissue1.13929622
47MP0000631_abnormal_neuroendocrine_gland1.12103518
48MP0003646_muscle_fatigue1.11526509
49MP0003943_abnormal_hepatobiliary_system1.06638581
50MP0004924_abnormal_behavior1.06242490
51MP0005386_behavior/neurological_phenoty1.06242490
52MP0008995_early_reproductive_senescence1.05691914
53MP0005647_abnormal_sex_gland1.02727240
54MP0008775_abnormal_heart_ventricle1.00032187
55MP0005389_reproductive_system_phenotype0.94092242
56MP0008058_abnormal_DNA_repair0.93436687
57MP0002909_abnormal_adrenal_gland0.93346854
58MP0008770_decreased_survivor_rate0.93162057
59MP0006276_abnormal_autonomic_nervous0.92087941
60MP0004019_abnormal_vitamin_homeostasis0.89975485
61MP0003787_abnormal_imprinting0.88819505
62MP0003693_abnormal_embryo_hatching0.87922779
63MP0002210_abnormal_sex_determination0.86157489
64MP0002254_reproductive_system_inflammat0.84823389
65MP0002653_abnormal_ependyma_morphology0.84705257
66MP0003984_embryonic_growth_retardation0.83622589
67MP0004381_abnormal_hair_follicle0.83374858
68MP0002088_abnormal_embryonic_growth/wei0.82030838
69MP0002970_abnormal_white_adipose0.81846248
70MP0001764_abnormal_homeostasis0.81027961
71MP0002735_abnormal_chemical_nociception0.80416679
72MP0003698_abnormal_male_reproductive0.79809875
73MP0001145_abnormal_male_reproductive0.79619577
74MP0002796_impaired_skin_barrier0.79313153
75MP0005395_other_phenotype0.78978582
76MP0000653_abnormal_sex_gland0.78537343
77MP0005266_abnormal_metabolism0.78399540
78MP0005253_abnormal_eye_physiology0.78360496
79MP0003937_abnormal_limbs/digits/tail_de0.77894381
80MP0001672_abnormal_embryogenesis/_devel0.75816895
81MP0005380_embryogenesis_phenotype0.75816895
82MP0001486_abnormal_startle_reflex0.75472269
83MP0000371_diluted_coat_color0.74686181
84MP0002075_abnormal_coat/hair_pigmentati0.74325565
85MP0001324_abnormal_eye_pigmentation0.73686198
86MP0000639_abnormal_adrenal_gland0.72599241
87MP0005408_hypopigmentation0.71622787
88MP0004134_abnormal_chest_morphology0.71071953
89MP0003868_abnormal_feces_composition0.70150402
90MP0002086_abnormal_extraembryonic_tissu0.69887305
91MP0000372_irregular_coat_pigmentation0.68263143
92MP0003936_abnormal_reproductive_system0.67957714
93MP0001929_abnormal_gametogenesis0.67490767
94MP0000367_abnormal_coat/_hair0.67303022
95MP0003935_abnormal_craniofacial_develop0.66674856
96MP0001501_abnormal_sleep_pattern0.66269254
97MP0003699_abnormal_female_reproductive0.62339671
98MP0002138_abnormal_hepatobiliary_system0.61966890
99MP0005379_endocrine/exocrine_gland_phen0.59997825
100MP0003183_abnormal_peptide_metabolism0.59081348

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the labia minora (HP:0012880)4.42405288
2Hepatoblastoma (HP:0002884)4.27053774
3Long clavicles (HP:0000890)4.22591348
4Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)4.07646877
5Short 1st metacarpal (HP:0010034)4.07646877
6Aplasia/Hypoplasia of the sternum (HP:0006714)4.04539044
7Hypoplastic labia majora (HP:0000059)3.96404939
8Short phalanx of the thumb (HP:0009660)3.91519168
9Abnormality of the labia majora (HP:0012881)3.83301100
10Abnormality of the 1st metacarpal (HP:0010009)3.51064849
11Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.47761021
12Facial hemangioma (HP:0000329)3.37982183
13Bicornuate uterus (HP:0000813)3.37804189
14Abnormality of macular pigmentation (HP:0008002)3.28571775
15Increased density of long bones (HP:0006392)3.20632955
16Partial agenesis of the corpus callosum (HP:0001338)3.19239098
17Hyperventilation (HP:0002883)3.17356183
18Decreased lacrimation (HP:0000633)3.16933061
19Abnormality of dental color (HP:0011073)3.16630581
20Alacrima (HP:0000522)3.07962053
21Amelogenesis imperfecta (HP:0000705)3.07847763
22Central scotoma (HP:0000603)3.06584439
23Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)3.05720756
24Cerebellar dysplasia (HP:0007033)3.04204578
25Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.02658330
26Widely patent fontanelles and sutures (HP:0004492)2.99038194
27Hypoplastic nipples (HP:0002557)2.89415533
28Oligodactyly (hands) (HP:0001180)2.85236807
29Chromsome breakage (HP:0040012)2.83275752
30Attenuation of retinal blood vessels (HP:0007843)2.77838202
31Impulsivity (HP:0100710)2.72542610
32Progressive cerebellar ataxia (HP:0002073)2.69609198
33Gaze-evoked nystagmus (HP:0000640)2.68069726
34Abnormality of the pubic bones (HP:0003172)2.66190019
35Chromosomal breakage induced by crosslinking agents (HP:0003221)2.63184507
36Severe visual impairment (HP:0001141)2.59279515
37Bilateral sensorineural hearing impairment (HP:0008619)2.58372756
38Abnormality of the parietal bone (HP:0002696)2.58335608
39Widely spaced teeth (HP:0000687)2.55015369
40Labial hypoplasia (HP:0000066)2.54498443
41Bony spicule pigmentary retinopathy (HP:0007737)2.53627513
42Chronic hepatic failure (HP:0100626)2.51017978
43Short thumb (HP:0009778)2.43238872
44Fair hair (HP:0002286)2.42025984
45Abolished electroretinogram (ERG) (HP:0000550)2.41177745
46Choanal stenosis (HP:0000452)2.35237509
47Pancreatic cysts (HP:0001737)2.34994229
48Hypoplastic female external genitalia (HP:0012815)2.31862956
49Abnormality of the nasal septum (HP:0000419)2.29577318
50Patellar aplasia (HP:0006443)2.28011022
51Protruding tongue (HP:0010808)2.20647409
52Hyperglycinemia (HP:0002154)2.13336159
53Scotoma (HP:0000575)2.11979953
54Aplasia cutis congenita (HP:0001057)2.09779323
55Absent radius (HP:0003974)2.08788157
56Aplasia/Hypoplasia of the patella (HP:0006498)2.07591376
57Ankle contracture (HP:0006466)2.07227958
58Absent forearm bone (HP:0003953)2.06545229
59Aplasia involving forearm bones (HP:0009822)2.06545229
60True hermaphroditism (HP:0010459)2.06464249
61Ectopic kidney (HP:0000086)2.02339826
62Hyperglycinuria (HP:0003108)2.01165309
63Cupped ear (HP:0000378)2.00945592
64Increased neuronal autofluorescent lipopigment (HP:0002074)2.00640852
65Sloping forehead (HP:0000340)2.00010731
66Birth length less than 3rd percentile (HP:0003561)1.99190876
67Congenital stationary night blindness (HP:0007642)1.96028706
68Absent speech (HP:0001344)1.94426691
69Clumsiness (HP:0002312)1.93689745
70Inability to walk (HP:0002540)1.93631432
71Scrotal hypoplasia (HP:0000046)1.90209330
72Duplicated collecting system (HP:0000081)1.89382339
73Abnormality of the labia (HP:0000058)1.89067486
74Medulloblastoma (HP:0002885)1.85063207
75Volvulus (HP:0002580)1.84766262
76Aplasia/Hypoplasia of the nipples (HP:0006709)1.82867498
77Hypergonadotropic hypogonadism (HP:0000815)1.82154002
78Microvesicular hepatic steatosis (HP:0001414)1.78414311
79Progressive inability to walk (HP:0002505)1.78093629
80Pendular nystagmus (HP:0012043)1.77132057
81Abnormality of the renal collecting system (HP:0004742)1.76980019
82Abnormal biliary tract physiology (HP:0012439)1.76288674
83Bile duct proliferation (HP:0001408)1.76288674
84Intestinal atresia (HP:0011100)1.75848391
85Abnormality of the fingertips (HP:0001211)1.75788879
86Anencephaly (HP:0002323)1.74194890
87Amyotrophic lateral sclerosis (HP:0007354)1.74050647
88Pancreatic fibrosis (HP:0100732)1.73527754
89Opisthotonus (HP:0002179)1.72601253
90Genetic anticipation (HP:0003743)1.72010008
91Abnormality of the metopic suture (HP:0005556)1.71323711
92Macular degeneration (HP:0000608)1.70467693
93Cone-rod dystrophy (HP:0000548)1.70218314
94Neoplasm of the heart (HP:0100544)1.70072220
95Hypsarrhythmia (HP:0002521)1.68991702
96Anal stenosis (HP:0002025)1.66779394
97Small hand (HP:0200055)1.65578183
98Aplasia/Hypoplasia involving the musculature (HP:0001460)1.64694341
99Lissencephaly (HP:0001339)1.64469055
100Type II lissencephaly (HP:0007260)1.64020102

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.29113247
2PINK14.42756355
3AKT33.65028962
4LATS13.53503763
5STK38L3.31856284
6MAP4K23.23916887
7NME13.23540812
8CAMK1D2.92782913
9CAMK1G2.62006355
10ACVR1B2.38280691
11STK392.14857395
12PDK21.84444509
13WNK41.83453148
14BMPR1B1.79308946
15OXSR11.75102829
16ICK1.71044252
17TNIK1.59066107
18TAOK31.58580496
19PBK1.58024088
20WNK31.55897994
21MAP3K71.46063784
22MKNK21.45021682
23MARK31.44772012
24BRD41.36813983
25LATS21.31439047
26MAPK131.31101128
27ADRBK21.27574239
28EIF2AK31.18442475
29ZAK1.17509601
30SIK21.12445245
31TYRO31.11845563
32NEK61.10006185
33PIM11.09778531
34STK31.02430816
35INSRR0.98463534
36BRSK20.97318331
37STK380.94091952
38EPHA20.93943002
39CDK120.93167972
40PLK40.91322550
41NUAK10.87975574
42GSK3A0.85203604
43MAP3K40.84831167
44RPS6KB20.81864405
45PRKAA20.78476715
46TGFBR10.77856846
47TRPM70.74723959
48MATK0.73523020
49KSR10.73484042
50DAPK20.71794830
51YES10.71548910
52MARK10.71038416
53PTK2B0.70457944
54GRK10.68083798
55CHEK10.66764204
56CDK60.65597136
57PRKAA10.63408060
58EEF2K0.61321082
59MAPK110.60677934
60MAP2K10.59650788
61MST40.58220129
62CAMK10.55035950
63WEE10.54145234
64PRKCZ0.53745544
65RPS6KA40.52280200
66PLK10.50840173
67MKNK10.48058579
68PRKCI0.48036331
69CHEK20.47653968
70SRPK10.47397089
71CDC70.47330288
72STK240.44798236
73CSNK1D0.43893279
74PRKCE0.40902038
75CAMK40.40684630
76FER0.40501945
77CDK10.39988676
78SGK20.39958069
79ATM0.39466925
80PIM20.39460866
81ATR0.38067653
82PNCK0.37685564
83MTOR0.37267873
84PKN10.37218922
85GSK3B0.36417878
86TNK20.36401492
87CSNK1A10.35427348
88RPS6KB10.33719890
89MAPK10.33067460
90PRKCH0.33013757
91ABL10.32733350
92NEK20.31556890
93TEC0.31330521
94ADRBK10.30473158
95EPHA40.29950521
96TRIM280.29679879
97MAP3K60.29662706
98SGK10.29512773
99CDK20.28824869
100MELK0.28740893

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.96125640
2Homologous recombination_Homo sapiens_hsa034402.77598309
3Ovarian steroidogenesis_Homo sapiens_hsa049132.76592553
4Non-homologous end-joining_Homo sapiens_hsa034502.69520674
5Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.37825602
6Fatty acid biosynthesis_Homo sapiens_hsa000612.18393404
7ABC transporters_Homo sapiens_hsa020102.15728687
8Fanconi anemia pathway_Homo sapiens_hsa034601.97224264
9Steroid hormone biosynthesis_Homo sapiens_hsa001401.96783413
10Butanoate metabolism_Homo sapiens_hsa006501.90704096
11Propanoate metabolism_Homo sapiens_hsa006401.86931951
12Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.81438874
13Nitrogen metabolism_Homo sapiens_hsa009101.73516419
14Basal transcription factors_Homo sapiens_hsa030221.73474670
15p53 signaling pathway_Homo sapiens_hsa041151.67884439
16Ether lipid metabolism_Homo sapiens_hsa005651.67270417
17Hedgehog signaling pathway_Homo sapiens_hsa043401.67050349
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.65910773
19Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.63027548
20Cell cycle_Homo sapiens_hsa041101.53761302
21alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.50349653
22Collecting duct acid secretion_Homo sapiens_hsa049661.46370909
23Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.43923928
24RNA transport_Homo sapiens_hsa030131.43433186
25Selenocompound metabolism_Homo sapiens_hsa004501.40806302
26RNA polymerase_Homo sapiens_hsa030201.36536425
27Hippo signaling pathway_Homo sapiens_hsa043901.33453807
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.32155983
29mRNA surveillance pathway_Homo sapiens_hsa030151.31996734
30Linoleic acid metabolism_Homo sapiens_hsa005911.30879491
31N-Glycan biosynthesis_Homo sapiens_hsa005101.30241344
32Basal cell carcinoma_Homo sapiens_hsa052171.22095140
33Tryptophan metabolism_Homo sapiens_hsa003801.21572735
34Long-term depression_Homo sapiens_hsa047301.20187801
35Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.19888037
36Cysteine and methionine metabolism_Homo sapiens_hsa002701.18744923
37Nicotine addiction_Homo sapiens_hsa050331.18561973
38Olfactory transduction_Homo sapiens_hsa047401.16498613
39Taste transduction_Homo sapiens_hsa047421.12066277
40Small cell lung cancer_Homo sapiens_hsa052221.09929213
41Thyroid hormone synthesis_Homo sapiens_hsa049181.09328495
42Lysine degradation_Homo sapiens_hsa003101.01283713
43Vitamin digestion and absorption_Homo sapiens_hsa049770.97957609
44TGF-beta signaling pathway_Homo sapiens_hsa043500.96560361
45Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.93542877
46Dorso-ventral axis formation_Homo sapiens_hsa043200.89238780
47Sphingolipid metabolism_Homo sapiens_hsa006000.88915807
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.88439646
49Phototransduction_Homo sapiens_hsa047440.85923841
50Nucleotide excision repair_Homo sapiens_hsa034200.85917690
51Inositol phosphate metabolism_Homo sapiens_hsa005620.85696118
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.85514842
53Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.85122273
54RNA degradation_Homo sapiens_hsa030180.83777367
55One carbon pool by folate_Homo sapiens_hsa006700.82538082
56Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.80131481
57Calcium signaling pathway_Homo sapiens_hsa040200.79849687
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.78182309
59Arginine biosynthesis_Homo sapiens_hsa002200.78138799
60PI3K-Akt signaling pathway_Homo sapiens_hsa041510.78058126
61Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.75029000
62Mismatch repair_Homo sapiens_hsa034300.74046933
63Salivary secretion_Homo sapiens_hsa049700.73272986
64Ras signaling pathway_Homo sapiens_hsa040140.72738313
65Fatty acid metabolism_Homo sapiens_hsa012120.70757848
66Pyruvate metabolism_Homo sapiens_hsa006200.70140197
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.69159986
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.67483367
69Pathways in cancer_Homo sapiens_hsa052000.66384782
70Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.62739780
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61957730
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.61747445
73MicroRNAs in cancer_Homo sapiens_hsa052060.60788409
74Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.60615685
75Morphine addiction_Homo sapiens_hsa050320.57721017
76Prolactin signaling pathway_Homo sapiens_hsa049170.57183368
77Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.57157999
78DNA replication_Homo sapiens_hsa030300.56778214
79Glutamatergic synapse_Homo sapiens_hsa047240.56149338
80Caffeine metabolism_Homo sapiens_hsa002320.55437626
81Base excision repair_Homo sapiens_hsa034100.54589101
82Rap1 signaling pathway_Homo sapiens_hsa040150.54196620
83Regulation of autophagy_Homo sapiens_hsa041400.53604731
84Pyrimidine metabolism_Homo sapiens_hsa002400.51725393
85Serotonergic synapse_Homo sapiens_hsa047260.51313383
86Purine metabolism_Homo sapiens_hsa002300.51312397
87Protein export_Homo sapiens_hsa030600.51228442
88HIF-1 signaling pathway_Homo sapiens_hsa040660.50447264
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48495857
90Oocyte meiosis_Homo sapiens_hsa041140.48333685
91Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.48072702
92Primary bile acid biosynthesis_Homo sapiens_hsa001200.48009462
93Prostate cancer_Homo sapiens_hsa052150.47956253
94Gastric acid secretion_Homo sapiens_hsa049710.46941882
95Transcriptional misregulation in cancer_Homo sapiens_hsa052020.45692739
96FoxO signaling pathway_Homo sapiens_hsa040680.42817397
97Metabolic pathways_Homo sapiens_hsa011000.42644095
98Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39120358
99Sphingolipid signaling pathway_Homo sapiens_hsa040710.37211890
100Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.35398390

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