RPSAP52

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)4.83925457
2endocardial cushion development (GO:0003197)3.87882512
3chondrocyte proliferation (GO:0035988)3.81529537
4regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.78621533
5negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)3.47551015
6negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)3.45094858
7neural crest cell development (GO:0014032)3.44026742
8cell migration involved in heart development (GO:0060973)3.43203231
9mesenchymal-epithelial cell signaling (GO:0060638)3.37291828
10negative regulation of nitric-oxide synthase activity (GO:0051001)3.30890962
11negative regulation of DNA repair (GO:0045738)3.30746540
12mesodermal cell differentiation (GO:0048333)3.30610872
13negative regulation of keratinocyte proliferation (GO:0010839)3.28840561
14histone-serine phosphorylation (GO:0035404)3.23210483
15endothelial cell morphogenesis (GO:0001886)3.14190586
16protein heterotetramerization (GO:0051290)3.12241126
17negative regulation of stem cell proliferation (GO:2000647)3.09988796
18keratinocyte proliferation (GO:0043616)3.07655387
19regulation of cellular senescence (GO:2000772)3.07525263
20regulation of spindle organization (GO:0090224)3.06096681
21regulation of interleukin-8 secretion (GO:2000482)3.04826542
22mitotic metaphase plate congression (GO:0007080)3.04122280
23response to redox state (GO:0051775)3.03235744
24anterior/posterior axis specification, embryo (GO:0008595)3.01759059
25membrane raft organization (GO:0031579)2.99290700
26sequestering of extracellular ligand from receptor (GO:0035581)2.99221351
27substrate-dependent cell migration (GO:0006929)2.96554902
28negative regulation of axon extension involved in axon guidance (GO:0048843)2.95396919
29negative regulation of JAK-STAT cascade (GO:0046426)2.90740906
30desmosome organization (GO:0002934)2.89926314
31mitotic sister chromatid segregation (GO:0000070)2.88294577
32regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.87594425
33negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)2.85303671
34regulation of metalloenzyme activity (GO:0048552)2.84409826
35negative regulation of chondrocyte differentiation (GO:0032331)2.82197295
36response to gravity (GO:0009629)2.81854273
37negative regulation by host of viral transcription (GO:0043922)2.77169052
38smooth muscle tissue development (GO:0048745)2.76290013
39wound healing, spreading of epidermal cells (GO:0035313)2.76158980
40metaphase plate congression (GO:0051310)2.75504971
41UDP-N-acetylglucosamine metabolic process (GO:0006047)2.74790926
42regulation of histone phosphorylation (GO:0033127)2.74681814
43hepatocyte differentiation (GO:0070365)2.74341163
44attachment of spindle microtubules to kinetochore (GO:0008608)2.73341300
45pyrimidine dimer repair (GO:0006290)2.70182739
46extracellular regulation of signal transduction (GO:1900115)2.69080178
47extracellular negative regulation of signal transduction (GO:1900116)2.69080178
48replicative senescence (GO:0090399)2.68097804
49proteasome assembly (GO:0043248)2.67259826
50cell adhesion mediated by integrin (GO:0033627)2.66566576
51positive regulation of interleukin-8 secretion (GO:2000484)2.64429000
52epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.64253890
53endodermal cell differentiation (GO:0035987)2.63319855
54embryonic forelimb morphogenesis (GO:0035115)2.63176209
55mammary gland development (GO:0030879)2.62653020
56negative regulation of protein tyrosine kinase activity (GO:0061099)2.62611735
57ribosomal large subunit biogenesis (GO:0042273)2.62522776
58transcription elongation from RNA polymerase I promoter (GO:0006362)2.61973334
59embryonic cranial skeleton morphogenesis (GO:0048701)2.58945440
60response to X-ray (GO:0010165)2.56883758
61regulation of hippo signaling (GO:0035330)2.55497558
62regulation of mitotic spindle organization (GO:0060236)2.54393902
63protein K6-linked ubiquitination (GO:0085020)2.54269136
64heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.54095910
65negative regulation of axon guidance (GO:1902668)2.52649436
66establishment of chromosome localization (GO:0051303)2.51029834
67regulation of transforming growth factor beta2 production (GO:0032909)2.50675999
68regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)2.50660467
69termination of RNA polymerase I transcription (GO:0006363)2.50161356
70activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.49653182
71lymphangiogenesis (GO:0001946)2.49305548
72sister chromatid segregation (GO:0000819)2.49134140
73sulfation (GO:0051923)2.48474990
74positive regulation of cartilage development (GO:0061036)2.48369771
75kidney mesenchyme development (GO:0072074)2.46094306
76regulation of keratinocyte proliferation (GO:0010837)2.45234582
77chromatin remodeling at centromere (GO:0031055)2.44834321
78natural killer cell mediated cytotoxicity (GO:0042267)2.44370858
79natural killer cell mediated immunity (GO:0002228)2.44370858
80positive regulation of cardiac muscle cell differentiation (GO:2000727)2.43530593
81regulation of cell aging (GO:0090342)2.42023451
82positive regulation of male gonad development (GO:2000020)2.41963105
83mesenchymal cell development (GO:0014031)2.40972770
84sprouting angiogenesis (GO:0002040)2.40540264
85CENP-A containing nucleosome assembly (GO:0034080)2.39130294
86muscle cell migration (GO:0014812)2.36466461
87regulation of heart morphogenesis (GO:2000826)2.36146248
88dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.31927904
89positive regulation of transcription regulatory region DNA binding (GO:2000679)2.31429717
90skin morphogenesis (GO:0043589)2.29594176
91anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.28738707
92wound healing, spreading of cells (GO:0044319)2.28468987
93ribosomal small subunit assembly (GO:0000028)2.27232113
94microtubule depolymerization (GO:0007019)2.27125608
95negative regulation of BMP signaling pathway (GO:0030514)2.26891471
96eosinophil chemotaxis (GO:0048245)2.26663738
97mammary gland epithelial cell proliferation (GO:0033598)2.26420906
98left/right axis specification (GO:0070986)2.25684732
99pattern specification involved in kidney development (GO:0061004)2.24540254
100cartilage morphogenesis (GO:0060536)2.24409938

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.00223038
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.13359512
3SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.65508631
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.34273290
5FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.21792936
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.20715957
7ELK1_19687146_ChIP-ChIP_HELA_Human3.02331430
8BRD4_25478319_ChIP-Seq_HGPS_Human2.93213141
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.86555102
10KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.79515545
11RBPJ_22232070_ChIP-Seq_NCS_Mouse2.73580131
12SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.54434277
13SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.54434277
14CJUN_26792858_Chip-Seq_BT549_Human2.54203457
15AR_21909140_ChIP-Seq_LNCAP_Human2.44491739
16E2F4_17652178_ChIP-ChIP_JURKAT_Human2.40965618
17TRIM28_21343339_ChIP-Seq_HEK293_Human2.32706296
18ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.30810543
19SALL1_21062744_ChIP-ChIP_HESCs_Human2.28202864
20JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.23628187
21TP53_18474530_ChIP-ChIP_U2OS_Human2.20556019
22MYC_18555785_ChIP-Seq_MESCs_Mouse2.15351327
23CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.11860690
24JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.08554587
25DCP1A_22483619_ChIP-Seq_HELA_Human2.08459407
26TP53_16413492_ChIP-PET_HCT116_Human2.06816689
27CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.99389496
28HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.94362369
29ELK1_22589737_ChIP-Seq_MCF10A_Human1.90593918
30EST1_17652178_ChIP-ChIP_JURKAT_Human1.81642575
31JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.69420321
32CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.68885347
33POU5F1_16153702_ChIP-ChIP_HESCs_Human1.57433854
34TTF2_22483619_ChIP-Seq_HELA_Human1.55909718
35PCGF2_27294783_Chip-Seq_NPCs_Mouse1.55765305
36HIF1A_21447827_ChIP-Seq_MCF-7_Human1.53632278
37VDR_23849224_ChIP-Seq_CD4+_Human1.52061097
38CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.47950050
39PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.46673724
40ETS1_20019798_ChIP-Seq_JURKAT_Human1.45128846
41CREB1_15753290_ChIP-ChIP_HEK293T_Human1.45008208
42E2F1_18555785_ChIP-Seq_MESCs_Mouse1.44237323
43PPAR_26484153_Chip-Seq_NCI-H1993_Human1.44133782
44RARG_19884340_ChIP-ChIP_MEFs_Mouse1.42911098
45* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.42637819
46* EWS_26573619_Chip-Seq_HEK293_Human1.40744457
47TP63_19390658_ChIP-ChIP_HaCaT_Human1.40535636
48HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.40193645
49MYC_18940864_ChIP-ChIP_HL60_Human1.31476760
50ZNF274_21170338_ChIP-Seq_K562_Hela1.31241047
51NELFA_20434984_ChIP-Seq_ESCs_Mouse1.30818432
52SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.30168890
53EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.29476556
54TP53_22127205_ChIP-Seq_IMR90_Human1.29201238
55PCGF2_27294783_Chip-Seq_ESCs_Mouse1.26197092
56* UBF1/2_26484160_Chip-Seq_HMECs_Human1.25732643
57MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.21682319
58PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21435415
59MYC_19030024_ChIP-ChIP_MESCs_Mouse1.18866136
60MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.18812265
61TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.18811736
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.18319182
63FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.13874624
64MYC_18358816_ChIP-ChIP_MESCs_Mouse1.12931302
65ELF1_17652178_ChIP-ChIP_JURKAT_Human1.10337210
66RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.10153209
67NANOG_16153702_ChIP-ChIP_HESCs_Human1.09625858
68FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.09218630
69EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.08075280
70MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.07640922
71SALL4_18804426_ChIP-ChIP_XEN_Mouse1.07548571
72ATF3_27146783_Chip-Seq_COLON_Human1.05554349
73MYC_19079543_ChIP-ChIP_MESCs_Mouse1.04456658
74NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.03985407
75NRF2_20460467_ChIP-Seq_MEFs_Mouse1.03985407
76CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.02552642
77SOX17_20123909_ChIP-Seq_XEN_Mouse1.02540426
78GABP_19822575_ChIP-Seq_HepG2_Human1.01243184
79XRN2_22483619_ChIP-Seq_HELA_Human1.01165287
80FUS_26573619_Chip-Seq_HEK293_Human1.00981191
81GATA4_25053715_ChIP-Seq_YYC3_Human1.00748511
82SRF_21415370_ChIP-Seq_HL-1_Mouse1.00583148
83DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.00315020
84ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.99380926
85EP300_21415370_ChIP-Seq_HL-1_Mouse0.98531538
86TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97122851
87FOXM1_26456572_ChIP-Seq_MCF-7_Human0.95939962
88SOX2_20726797_ChIP-Seq_SW620_Human0.95848636
89P63_26484246_Chip-Seq_KERATINOCYTES_Human0.95813728
90HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.95063535
91ZFP57_27257070_Chip-Seq_ESCs_Mouse0.94824017
92KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.92747634
93FLI1_27457419_Chip-Seq_LIVER_Mouse0.92531000
94PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.92182940
95POU3F2_20337985_ChIP-ChIP_501MEL_Human0.90546673
96FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.90346576
97NOTCH1_21737748_ChIP-Seq_TLL_Human0.90088809
98GATA2_21666600_ChIP-Seq_HMVEC_Human0.88172921
99KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.87521746
100EED_16625203_ChIP-ChIP_MESCs_Mouse0.86609914

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane4.83929856
2MP0005360_urolithiasis3.68598574
3MP0004272_abnormal_basement_membrane3.50009036
4MP0009379_abnormal_foot_pigmentation3.16594225
5MP0005257_abnormal_intraocular_pressure3.08316912
6MP0008438_abnormal_cutaneous_collagen3.02236288
7MP0010368_abnormal_lymphatic_system2.42101090
8MP0010030_abnormal_orbit_morphology2.28753931
9MP0000537_abnormal_urethra_morphology2.25406480
10MP0003705_abnormal_hypodermis_morpholog2.24980659
11MP0009384_cardiac_valve_regurgitation2.22841716
12MP0002234_abnormal_pharynx_morphology2.15701218
13MP0006054_spinal_hemorrhage2.10950638
14MP0009697_abnormal_copulation1.99925535
15MP0005503_abnormal_tendon_morphology1.99479768
16MP0009053_abnormal_anal_canal1.98704658
17MP0000762_abnormal_tongue_morphology1.96093604
18MP0003315_abnormal_perineum_morphology1.86753991
19MP0003693_abnormal_embryo_hatching1.84123932
20MP0009250_abnormal_appendicular_skeleto1.82571375
21MP0000013_abnormal_adipose_tissue1.72145494
22MP0003937_abnormal_limbs/digits/tail_de1.71651513
23MP0000427_abnormal_hair_cycle1.70438511
24MP0003755_abnormal_palate_morphology1.62113913
25MP0006292_abnormal_olfactory_placode1.61949515
26MP0002102_abnormal_ear_morphology1.59708107
27MP0005275_abnormal_skin_tensile1.59536441
28MP0003786_premature_aging1.54787958
29MP0005367_renal/urinary_system_phenotyp1.51695768
30MP0000516_abnormal_urinary_system1.51695768
31MP0001542_abnormal_bone_strength1.51264224
32MP0002060_abnormal_skin_morphology1.50393201
33MP0002938_white_spotting1.50318999
34MP0003195_calcinosis1.50076405
35MP0005023_abnormal_wound_healing1.48661381
36MP0003279_aneurysm1.47922291
37MP0001299_abnormal_eye_distance/1.47579413
38MP0006072_abnormal_retinal_apoptosis1.39216190
39MP0000534_abnormal_ureter_morphology1.38687934
40MP0004957_abnormal_blastocyst_morpholog1.38569282
41MP0004134_abnormal_chest_morphology1.36267722
42MP0000579_abnormal_nail_morphology1.36106508
43MP0003942_abnormal_urinary_system1.35036814
44MP0002282_abnormal_trachea_morphology1.32507635
45MP0009780_abnormal_chondrocyte_physiolo1.30336913
46MP0002177_abnormal_outer_ear1.30251862
47MP0003111_abnormal_nucleus_morphology1.30102431
48MP0000049_abnormal_middle_ear1.26718731
49MP0005197_abnormal_uvea_morphology1.23763104
50MP0002160_abnormal_reproductive_system1.19412112
51MP0000569_abnormal_digit_pigmentation1.19178372
52MP0000003_abnormal_adipose_tissue1.19082114
53MP0005508_abnormal_skeleton_morphology1.18006086
54MP0010386_abnormal_urinary_bladder1.16635448
55MP0001958_emphysema1.15573463
56MP0003941_abnormal_skin_development1.15342539
57MP0005187_abnormal_penis_morphology1.14985197
58MP0000538_abnormal_urinary_bladder1.14681240
59MP0005623_abnormal_meninges_morphology1.13574562
60MP0002876_abnormal_thyroid_physiology1.11362007
61MP0002896_abnormal_bone_mineralization1.10601403
62MP0001879_abnormal_lymphatic_vessel1.09633239
63MP0003718_maternal_effect1.05832063
64MP0005165_increased_susceptibility_to1.04184401
65MP0001216_abnormal_epidermal_layer1.02666410
66MP0005501_abnormal_skin_physiology1.01651671
67MP0010094_abnormal_chromosome_stability1.01600806
68MP0008932_abnormal_embryonic_tissue1.01475504
69MP0008058_abnormal_DNA_repair0.99404367
70MP0008775_abnormal_heart_ventricle0.99262851
71MP0002109_abnormal_limb_morphology0.98788667
72MP0000428_abnormal_craniofacial_morphol0.98407733
73MP0000733_abnormal_muscle_development0.97153142
74MP0000163_abnormal_cartilage_morphology0.96996517
75MP0001293_anophthalmia0.95349199
76MP0001348_abnormal_lacrimal_gland0.94391433
77MP0003252_abnormal_bile_duct0.94299557
78MP0000627_abnormal_mammary_gland0.93686146
79MP0008007_abnormal_cellular_replicative0.90730984
80MP0010771_integument_phenotype0.89009452
81MP0003077_abnormal_cell_cycle0.86049112
82MP0005164_abnormal_response_to0.86015074
83MP0002932_abnormal_joint_morphology0.84736112
84MP0001243_abnormal_dermal_layer0.84683452
85MP0008961_abnormal_basal_metabolism0.84389836
86MP0003936_abnormal_reproductive_system0.82654032
87MP0000767_abnormal_smooth_muscle0.82594393
88MP0000467_abnormal_esophagus_morphology0.80035292
89MP0003806_abnormal_nucleotide_metabolis0.80005714
90MP0003385_abnormal_body_wall0.79550893
91MP0005595_abnormal_vascular_smooth0.79004495
92MP0000432_abnormal_head_morphology0.78979350
93MP0005409_darkened_coat_color0.78078629
94MP0005395_other_phenotype0.78074879
95MP0003566_abnormal_cell_adhesion0.77761961
96MP0008789_abnormal_olfactory_epithelium0.77025535
97MP0000647_abnormal_sebaceous_gland0.76608267
98MP0003935_abnormal_craniofacial_develop0.76423475
99MP0001286_abnormal_eye_development0.76244438
100MP0000383_abnormal_hair_follicle0.74838842

Predicted human phenotypes

RankGene SetZ-score
1Entropion (HP:0000621)4.52731312
2Premature rupture of membranes (HP:0001788)4.07346787
3Protrusio acetabuli (HP:0003179)3.87867928
4Follicular hyperkeratosis (HP:0007502)3.65523907
5Atrophic scars (HP:0001075)3.59244565
6Abnormality of the 2nd finger (HP:0004100)3.32750576
7Abnormality of the phalanges of the 2nd finger (HP:0009541)3.23489180
8Milia (HP:0001056)3.20742181
9Reduced subcutaneous adipose tissue (HP:0003758)3.20149233
10Breast hypoplasia (HP:0003187)3.07254425
11Poikiloderma (HP:0001029)3.01126618
12Fragile nails (HP:0001808)2.97028942
13Abnormality of the proximal phalanges of the hand (HP:0009834)2.79859684
14Cardiovascular calcification (HP:0011915)2.77041559
15Abnormality of DNA repair (HP:0003254)2.72063994
16Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.65092214
17Short 1st metacarpal (HP:0010034)2.65092214
18Coronal craniosynostosis (HP:0004440)2.64981382
19Aortic dissection (HP:0002647)2.64508356
20Aplasia of the musculature (HP:0100854)2.63057784
21Soft skin (HP:0000977)2.55885643
22Increased number of teeth (HP:0011069)2.52815373
23Onycholysis (HP:0001806)2.49989167
24Abnormality of carpal bone ossification (HP:0006257)2.47470847
25Mesomelia (HP:0003027)2.43686933
26Vascular tortuosity (HP:0004948)2.42830122
27Spinal cord lesions (HP:0100561)2.42571890
28Syringomyelia (HP:0003396)2.42571890
29Ankle contracture (HP:0006466)2.41180804
30Aortic aneurysm (HP:0004942)2.40494755
31Spondylolisthesis (HP:0003302)2.36995949
32Abnormality of the 1st metacarpal (HP:0010009)2.35354417
33Stenosis of the external auditory canal (HP:0000402)2.33700726
34Abnormal hand bone ossification (HP:0010660)2.33681777
35Arterial tortuosity (HP:0005116)2.31300355
36Abnormality of the parietal bone (HP:0002696)2.30934640
37Aplasia/Hypoplasia of the ulna (HP:0006495)2.29081133
38Aplasia/Hypoplasia involving the musculature (HP:0001460)2.28873416
39Short phalanx of the thumb (HP:0009660)2.27667805
40Sparse lateral eyebrow (HP:0005338)2.27317527
41Hypoplasia of the ulna (HP:0003022)2.26282628
42Vascular calcification (HP:0004934)2.26274369
43Radial bowing (HP:0002986)2.25930826
44Abnormal ossification of hand bones (HP:0005921)2.25916056
45Cervical subluxation (HP:0003308)2.24590495
46Spinal rigidity (HP:0003306)2.21869423
47Aplastic anemia (HP:0001915)2.20747304
48Congenital, generalized hypertrichosis (HP:0004540)2.19199869
49Molar tooth sign on MRI (HP:0002419)2.08752249
50Abnormality of midbrain morphology (HP:0002418)2.08752249
51Neonatal short-limb short stature (HP:0008921)2.07789218
52Elbow flexion contracture (HP:0002987)2.05864478
53Hypoplastic pelvis (HP:0008839)2.02737374
54Hypoplasia of the radius (HP:0002984)2.01130224
55Reduced antithrombin III activity (HP:0001976)1.99620494
56Decreased subcutaneous fat (HP:0001002)1.99444925
57Natal tooth (HP:0000695)1.99103169
58Type I transferrin isoform profile (HP:0003642)1.98954538
59Aortic regurgitation (HP:0001659)1.98563965
60Fibular aplasia (HP:0002990)1.97618123
61Microretrognathia (HP:0000308)1.95342783
62Chorioretinal atrophy (HP:0000533)1.95297781
63Abnormality of cells of the erythroid lineage (HP:0012130)1.89834381
64Bladder diverticulum (HP:0000015)1.89034397
65Forearm undergrowth (HP:0009821)1.88634353
66Abnormality of placental membranes (HP:0011409)1.85643200
67Amniotic constriction ring (HP:0009775)1.85643200
68Flat capital femoral epiphysis (HP:0003370)1.83659662
69Small hand (HP:0200055)1.83057367
70Abnormality of the nasal septum (HP:0000419)1.80962217
71Fragile skin (HP:0001030)1.80929458
72Partial duplication of the phalanx of hand (HP:0009999)1.79711054
73Short clavicles (HP:0000894)1.76506885
74Aplasia/Hypoplasia of the clavicles (HP:0006710)1.74788550
75Congenital sensorineural hearing impairment (HP:0008527)1.72922855
76Ectropion (HP:0000656)1.72399826
77Short nail (HP:0001799)1.72182573
78Relative macrocephaly (HP:0004482)1.70580637
79Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.70514129
80Abnormal protein N-linked glycosylation (HP:0012347)1.70514129
81Abnormal protein glycosylation (HP:0012346)1.70514129
82Abnormal glycosylation (HP:0012345)1.70514129
83Synostosis of carpal bones (HP:0005048)1.69743176
84Abnormal number of incisors (HP:0011064)1.69730009
85Bowed forearm bones (HP:0003956)1.69309417
86Bowing of the arm (HP:0006488)1.69309417
87Short thumb (HP:0009778)1.67565383
88Abnormal tarsal ossification (HP:0008369)1.66998538
89Aplasia/Hypoplasia of the tibia (HP:0005772)1.66965913
90Metaphyseal dysplasia (HP:0100255)1.66363481
91Abnormal number of erythroid precursors (HP:0012131)1.65742620
92Shallow orbits (HP:0000586)1.65588445
93Abnormality of the humerus (HP:0003063)1.65190736
94Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.64156730
95Microglossia (HP:0000171)1.61861003
96Glucose intolerance (HP:0000833)1.60941907
97Plantar hyperkeratosis (HP:0007556)1.60938041
98Renal duplication (HP:0000075)1.60676946
99Short hallux (HP:0010109)1.60152846
100Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.59284760

Predicted kinase interactions (KEA)

RankGene SetZ-score
1AKT36.15674655
2EPHA23.21586782
3MAP3K123.21379662
4MST1R3.05237721
5BUB12.92605764
6MYLK2.85118082
7MET2.39076467
8EPHB22.15781630
9EIF2AK31.89465130
10LIMK11.84347079
11NEK11.83624839
12STK161.81566506
13ERBB41.79891040
14NEK21.77122418
15BRSK21.75090536
16PTK21.57911911
17PBK1.47707724
18SCYL21.45775925
19ACVR1B1.44045932
20CDK81.42495944
21GRK11.41333425
22PAK41.35922701
23ABL21.34218227
24VRK21.33666978
25TGFBR21.32689538
26ERBB31.29679450
27PLK41.29057401
28LATS11.27083380
29DDR21.23285266
30WEE11.22921597
31MKNK21.21146810
32AURKB1.19454219
33CDK91.18153152
34MST41.17813352
35NUAK11.17492296
36BMPR1B1.17217222
37MELK1.13783630
38TTK1.12452889
39FLT31.12037525
40ADRBK11.11646532
41NME21.10722178
42PLK11.09506203
43CDC71.09046059
44MOS1.08580658
45TIE11.03878173
46BCR0.99972570
47CDK190.97401328
48LATS20.97365565
49STK100.96600411
50TLK10.96423211
51BRSK10.92845605
52TESK20.91665266
53TNIK0.88651233
54PAK20.87744404
55BRD40.77804388
56PDGFRA0.77663100
57NTRK10.76084974
58PLK30.75554338
59BRAF0.72835051
60NEK90.72451640
61CHEK20.72018151
62VRK10.71978092
63TRPM70.71882799
64EIF2AK20.71761222
65TGFBR10.70735894
66PTK2B0.67769330
67PRKD20.67685944
68PIM20.67675165
69SRPK10.67512779
70CSNK1A1L0.66371419
71ADRBK20.65059615
72STK30.63166142
73STK380.62168781
74ROCK10.60800008
75STK38L0.60228624
76CDK70.58673812
77EIF2AK10.57033386
78PLK20.56807950
79AURKA0.55706712
80ILK0.53694070
81PDGFRB0.52547294
82WNK40.51508145
83FGFR10.51371871
84DAPK30.51272057
85ZAK0.50597599
86MKNK10.50009296
87FRK0.47270556
88STK40.46472975
89CDK120.42677984
90STK390.42615445
91ARAF0.40861571
92LMTK20.40550312
93PRKCE0.39669927
94DYRK30.39283926
95PRKCI0.38396550
96RPS6KA40.35988405
97TESK10.35591067
98TRIM280.32232861
99PAK10.31666188
100MAP4K20.31550854

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.11506426
2Nucleotide excision repair_Homo sapiens_hsa034202.99701545
3Ribosome_Homo sapiens_hsa030102.86238242
4RNA polymerase_Homo sapiens_hsa030202.74532920
5Protein export_Homo sapiens_hsa030602.65096800
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.29827437
7Basal transcription factors_Homo sapiens_hsa030222.26984835
8p53 signaling pathway_Homo sapiens_hsa041152.25274197
9Sulfur metabolism_Homo sapiens_hsa009202.17162094
10Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.14082944
11Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.13947685
12Pyrimidine metabolism_Homo sapiens_hsa002402.13439286
13ECM-receptor interaction_Homo sapiens_hsa045122.11209526
14Homologous recombination_Homo sapiens_hsa034402.01179887
15Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.98419231
16Fanconi anemia pathway_Homo sapiens_hsa034601.94415977
17Hippo signaling pathway_Homo sapiens_hsa043901.84866787
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.75983286
19TGF-beta signaling pathway_Homo sapiens_hsa043501.66980190
20Cell cycle_Homo sapiens_hsa041101.60947965
21Basal cell carcinoma_Homo sapiens_hsa052171.60779581
22RNA transport_Homo sapiens_hsa030131.56409356
23DNA replication_Homo sapiens_hsa030301.53094363
24Base excision repair_Homo sapiens_hsa034101.46626261
25Oxidative phosphorylation_Homo sapiens_hsa001901.42615390
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.38470673
27Asthma_Homo sapiens_hsa053101.36720671
28Non-homologous end-joining_Homo sapiens_hsa034501.34113912
29Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.31916124
30Hedgehog signaling pathway_Homo sapiens_hsa043401.31408687
31Huntingtons disease_Homo sapiens_hsa050161.28819935
32Focal adhesion_Homo sapiens_hsa045101.25398775
33RNA degradation_Homo sapiens_hsa030181.23383864
34Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.17845203
35Mismatch repair_Homo sapiens_hsa034301.12443992
36Cyanoamino acid metabolism_Homo sapiens_hsa004601.11574416
37Glutathione metabolism_Homo sapiens_hsa004801.09341039
38One carbon pool by folate_Homo sapiens_hsa006701.08781800
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.04622005
40Adherens junction_Homo sapiens_hsa045201.01059033
41Purine metabolism_Homo sapiens_hsa002301.01034285
42Protein digestion and absorption_Homo sapiens_hsa049740.99906167
43Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.99180028
44Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.96844832
45Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.96250939
46Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.90737145
47Fat digestion and absorption_Homo sapiens_hsa049750.90417407
48N-Glycan biosynthesis_Homo sapiens_hsa005100.90107034
49Cysteine and methionine metabolism_Homo sapiens_hsa002700.89053551
50Sphingolipid metabolism_Homo sapiens_hsa006000.88877905
51Spliceosome_Homo sapiens_hsa030400.87245845
52Parkinsons disease_Homo sapiens_hsa050120.85215443
53Renin-angiotensin system_Homo sapiens_hsa046140.82901038
54Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.82870876
55Proteoglycans in cancer_Homo sapiens_hsa052050.82195503
56Alzheimers disease_Homo sapiens_hsa050100.82163714
57Small cell lung cancer_Homo sapiens_hsa052220.79383257
58Regulation of actin cytoskeleton_Homo sapiens_hsa048100.77612974
59Vitamin digestion and absorption_Homo sapiens_hsa049770.77554583
60Selenocompound metabolism_Homo sapiens_hsa004500.76979877
61Shigellosis_Homo sapiens_hsa051310.76024228
62Bladder cancer_Homo sapiens_hsa052190.73679154
63Chemical carcinogenesis_Homo sapiens_hsa052040.67856271
64Mineral absorption_Homo sapiens_hsa049780.66308399
65PI3K-Akt signaling pathway_Homo sapiens_hsa041510.64540397
66Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64263495
67Intestinal immune network for IgA production_Homo sapiens_hsa046720.64072360
68Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63510673
69Systemic lupus erythematosus_Homo sapiens_hsa053220.62791187
70mRNA surveillance pathway_Homo sapiens_hsa030150.61386298
71MicroRNAs in cancer_Homo sapiens_hsa052060.61165082
72Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.61120003
73Caffeine metabolism_Homo sapiens_hsa002320.61006242
74Sulfur relay system_Homo sapiens_hsa041220.60366351
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.57088739
76Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.55153626
77Pathways in cancer_Homo sapiens_hsa052000.54042321
78Primary bile acid biosynthesis_Homo sapiens_hsa001200.53263547
79Transcriptional misregulation in cancer_Homo sapiens_hsa052020.52532111
80Glycosaminoglycan degradation_Homo sapiens_hsa005310.52227069
81Metabolic pathways_Homo sapiens_hsa011000.51374283
82Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.50372023
83Drug metabolism - other enzymes_Homo sapiens_hsa009830.49958349
84Wnt signaling pathway_Homo sapiens_hsa043100.48815645
85Alcoholism_Homo sapiens_hsa050340.47697740
86Hematopoietic cell lineage_Homo sapiens_hsa046400.45271966
87Viral myocarditis_Homo sapiens_hsa054160.44540697
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.44275952
89Melanoma_Homo sapiens_hsa052180.42791800
90Glycerolipid metabolism_Homo sapiens_hsa005610.42150047
91Axon guidance_Homo sapiens_hsa043600.41717601
92Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.40810476
93Nitrogen metabolism_Homo sapiens_hsa009100.37886949
94Tight junction_Homo sapiens_hsa045300.35468189
95Arachidonic acid metabolism_Homo sapiens_hsa005900.35282683
96Retinol metabolism_Homo sapiens_hsa008300.33453297
97Linoleic acid metabolism_Homo sapiens_hsa005910.32720601
98Graft-versus-host disease_Homo sapiens_hsa053320.31073075
99Starch and sucrose metabolism_Homo sapiens_hsa005000.30470117
100Autoimmune thyroid disease_Homo sapiens_hsa053200.30317586

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