BTF3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1viral transcription (GO:0019083)6.41686419
2translational termination (GO:0006415)6.25424541
3ribosomal small subunit assembly (GO:0000028)6.23946854
4ribosomal small subunit biogenesis (GO:0042274)5.67871246
5translational elongation (GO:0006414)5.56168695
6maturation of SSU-rRNA (GO:0030490)5.54971724
7SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.32339313
8cotranslational protein targeting to membrane (GO:0006613)5.21935163
9protein targeting to ER (GO:0045047)5.20623086
10translational initiation (GO:0006413)5.17503692
11nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.11377061
12establishment of protein localization to endoplasmic reticulum (GO:0072599)4.96739012
13formation of translation preinitiation complex (GO:0001731)4.93483642
14viral life cycle (GO:0019058)4.91625797
15cellular protein complex disassembly (GO:0043624)4.89754773
16protein localization to endoplasmic reticulum (GO:0070972)4.88165725
17mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.83803527
18ribosomal large subunit biogenesis (GO:0042273)4.77872850
19protein complex disassembly (GO:0043241)4.38277733
20DNA unwinding involved in DNA replication (GO:0006268)4.35671399
21DNA strand elongation involved in DNA replication (GO:0006271)4.34564919
22DNA strand elongation (GO:0022616)4.11465653
23macromolecular complex disassembly (GO:0032984)4.10677387
24ribonucleoprotein complex biogenesis (GO:0022613)4.06942887
25ATP synthesis coupled proton transport (GO:0015986)4.00946874
26energy coupled proton transport, down electrochemical gradient (GO:0015985)4.00946874
27telomere maintenance via semi-conservative replication (GO:0032201)4.00932778
28DNA replication initiation (GO:0006270)3.96398166
29nuclear-transcribed mRNA catabolic process (GO:0000956)3.85614070
30translation (GO:0006412)3.81854120
31folic acid-containing compound biosynthetic process (GO:0009396)3.68462286
32mRNA catabolic process (GO:0006402)3.65631403
33protein localization to kinetochore (GO:0034501)3.64974125
34ribosome assembly (GO:0042255)3.58481974
35telomere maintenance via recombination (GO:0000722)3.56406837
36nucleobase biosynthetic process (GO:0046112)3.55683219
37oxidative phosphorylation (GO:0006119)3.54753171
38DNA replication-dependent nucleosome assembly (GO:0006335)3.54144230
39DNA replication-dependent nucleosome organization (GO:0034723)3.54144230
40RNA catabolic process (GO:0006401)3.53069782
41rRNA processing (GO:0006364)3.47156819
42protein targeting to membrane (GO:0006612)3.46809196
43mitotic nuclear envelope disassembly (GO:0007077)3.44972335
44establishment of integrated proviral latency (GO:0075713)3.42187224
45regulation of translational fidelity (GO:0006450)3.41217814
46mitotic recombination (GO:0006312)3.40471147
47rRNA metabolic process (GO:0016072)3.35388282
48CENP-A containing nucleosome assembly (GO:0034080)3.31098278
49negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.28068139
50DNA replication checkpoint (GO:0000076)3.27684740
51establishment of protein localization to membrane (GO:0090150)3.27420382
52nucleobase-containing small molecule interconversion (GO:0015949)3.26897361
53chromatin remodeling at centromere (GO:0031055)3.26079991
54purine nucleobase biosynthetic process (GO:0009113)3.25583882
55ribosome biogenesis (GO:0042254)3.25464959
56mitotic metaphase plate congression (GO:0007080)3.24714663
57IMP biosynthetic process (GO:0006188)3.23391543
58DNA deamination (GO:0045006)3.22531666
59spliceosomal snRNP assembly (GO:0000387)3.18695980
60regulation of mitochondrial translation (GO:0070129)3.18118628
61nuclear envelope disassembly (GO:0051081)3.17720890
62membrane disassembly (GO:0030397)3.17720890
63protein localization to chromosome, centromeric region (GO:0071459)3.17703458
64telomere maintenance via telomere lengthening (GO:0010833)3.17213053
65nucleotide-excision repair, DNA gap filling (GO:0006297)3.16691492
66anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.16383538
67DNA replication-independent nucleosome organization (GO:0034724)3.14677240
68DNA replication-independent nucleosome assembly (GO:0006336)3.14677240
69regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.12929968
70positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.11170927
71protein targeting (GO:0006605)3.06351109
72negative regulation of ligase activity (GO:0051352)3.06002011
73negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.06002011
74IMP metabolic process (GO:0046040)3.02976192
75negative regulation of RNA splicing (GO:0033119)3.02238232
76establishment of protein localization to organelle (GO:0072594)2.96615074
77cellular component biogenesis (GO:0044085)2.96226371
78chaperone-mediated protein transport (GO:0072321)2.95361826
79ribonucleoprotein complex assembly (GO:0022618)2.93026657
80regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.91521138
81proteasome assembly (GO:0043248)2.91099267
82respiratory electron transport chain (GO:0022904)2.90718662
83DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.89546100
84mitotic sister chromatid segregation (GO:0000070)2.89503723
85establishment of protein localization to mitochondrial membrane (GO:0090151)2.89342417
86protein targeting to mitochondrion (GO:0006626)2.87975042
87viral mRNA export from host cell nucleus (GO:0046784)2.86597191
88DNA topological change (GO:0006265)2.86501627
89nuclear pore organization (GO:0006999)2.85925861
90intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.85582079
91signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.85582079
92metaphase plate congression (GO:0051310)2.82238058
93cell cycle G1/S phase transition (GO:0044843)2.81500460
94G1/S transition of mitotic cell cycle (GO:0000082)2.81500460
95transcription-coupled nucleotide-excision repair (GO:0006283)2.81384143
96nuclear pore complex assembly (GO:0051292)2.81022230
97signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.80872689
98signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.80872689
99signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.80872689
100signal transduction involved in DNA damage checkpoint (GO:0072422)2.80264448
101signal transduction involved in DNA integrity checkpoint (GO:0072401)2.80264448
102gene expression (GO:0010467)2.80224626
103electron transport chain (GO:0022900)2.79782322
104spliceosomal complex assembly (GO:0000245)2.79571856
105RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)2.78944227
106mRNA splicing, via spliceosome (GO:0000398)2.78944227
107RNA splicing, via transesterification reactions (GO:0000375)2.78600927
108regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.78273386
109ribonucleoprotein complex subunit organization (GO:0071826)2.77343838
110kinetochore organization (GO:0051383)2.76448752
111proline biosynthetic process (GO:0006561)2.75904914
112signal transduction involved in cell cycle checkpoint (GO:0072395)2.75417753
113rRNA modification (GO:0000154)2.75363803
114histone exchange (GO:0043486)2.74332378
115negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.73815488
116regulation of spindle organization (GO:0090224)2.72202218
117positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.72127713
118pseudouridine synthesis (GO:0001522)2.72057829
119DNA ligation (GO:0006266)2.69975290
120mitotic chromosome condensation (GO:0007076)2.69948306
121antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.69054686
122guanosine-containing compound biosynthetic process (GO:1901070)2.67619103
123termination of RNA polymerase II transcription (GO:0006369)2.67506936
124sister chromatid segregation (GO:0000819)2.66422719
125establishment of viral latency (GO:0019043)2.66309602
126DNA duplex unwinding (GO:0032508)2.66196488
127aerobic respiration (GO:0009060)2.65085117
128DNA geometric change (GO:0032392)2.63672890

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.27654395
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.52872059
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.06647289
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.39190941
5E2F4_17652178_ChIP-ChIP_JURKAT_Human3.24868243
6MYC_19079543_ChIP-ChIP_MESCs_Mouse3.22184585
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.03135647
8GABP_17652178_ChIP-ChIP_JURKAT_Human2.98011704
9FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.87076567
10KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.85591309
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.84122940
12* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.82398146
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.81115859
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.65333052
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.57984903
16XRN2_22483619_ChIP-Seq_HELA_Human2.54662139
17SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.53312085
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.38268309
19* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.33170081
20HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.29801274
21VDR_23849224_ChIP-Seq_CD4+_Human2.21872915
22ELF1_17652178_ChIP-ChIP_JURKAT_Human2.13600292
23DCP1A_22483619_ChIP-Seq_HELA_Human2.03665696
24AR_21909140_ChIP-Seq_LNCAP_Human2.03663810
25E2F1_18555785_ChIP-Seq_MESCs_Mouse2.02253548
26NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.97128296
27TTF2_22483619_ChIP-Seq_HELA_Human1.96978979
28MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.91746234
29FOXP3_21729870_ChIP-Seq_TREG_Human1.90948473
30MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.84471424
31EGR1_19374776_ChIP-ChIP_THP-1_Human1.82898750
32SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.81907624
33* GABP_19822575_ChIP-Seq_HepG2_Human1.78396649
34ZNF263_19887448_ChIP-Seq_K562_Human1.77284362
35ELK1_19687146_ChIP-ChIP_HELA_Human1.76741502
36TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.75114799
37MYCN_18555785_ChIP-Seq_MESCs_Mouse1.70695132
38* MYC_22102868_ChIP-Seq_BL_Human1.68993837
39E2F1_21310950_ChIP-Seq_MCF-7_Human1.68714547
40* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.66879854
41POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.63297670
42* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.59139069
43NANOG_18555785_ChIP-Seq_MESCs_Mouse1.57973371
44THAP11_20581084_ChIP-Seq_MESCs_Mouse1.54829059
45CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.53335096
46PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.48961073
47HOXB4_20404135_ChIP-ChIP_EML_Mouse1.48931247
48CIITA_25753668_ChIP-Seq_RAJI_Human1.44828340
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.43300060
50ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.42474997
51E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.40521292
52KDM5A_27292631_Chip-Seq_BREAST_Human1.37501594
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.32893930
54CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.31637607
55STAT3_1855785_ChIP-Seq_MESCs_Mouse1.29391668
56POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.29027462
57ERG_20887958_ChIP-Seq_HPC-7_Mouse1.28619546
58FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.28137443
59* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.27719228
60ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.27390576
61* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.26618929
62SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.25393176
63* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.20917496
64SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.19022830
65SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.18981827
66SRF_21415370_ChIP-Seq_HL-1_Mouse1.18711018
67KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.18628346
68TFEB_21752829_ChIP-Seq_HELA_Human1.17927097
69VDR_21846776_ChIP-Seq_THP-1_Human1.17908959
70POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.16635364
71PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.13417646
72HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.09616144
73ELK1_22589737_ChIP-Seq_MCF10A_Human1.09401462
74KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.08467126
75SOX2_18555785_ChIP-Seq_MESCs_Mouse1.08026543
76E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.07095604
77CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.06037505
78TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05935211
79* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.05862119
80* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.03145874
81TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.03107494
82TP63_17297297_ChIP-ChIP_HaCaT_Human1.02245007
83PADI4_21655091_ChIP-ChIP_MCF-7_Human1.02126795
84* SPI1_23547873_ChIP-Seq_NB4_Human1.01435855
85CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.97787944
86PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.97371340
87CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.96852695
88HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.96838517
89PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.96453341
90MYC_18940864_ChIP-ChIP_HL60_Human0.95515034
91* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.95040028
92BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.94502544
93* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.93785967
94RBPJ_22232070_ChIP-Seq_NCS_Mouse0.93356343
95TCF3_18692474_ChIP-Seq_MEFs_Mouse0.92687246
96TP63_19390658_ChIP-ChIP_HaCaT_Human0.91691616
97OCT4_18692474_ChIP-Seq_MEFs_Mouse0.91189670
98ESR1_15608294_ChIP-ChIP_MCF-7_Human0.90498793
99SOX17_20123909_ChIP-Seq_XEN_Mouse0.88641237
100CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.88147941
101GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.87930227
102SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.86613826
103SOX2_18692474_ChIP-Seq_MEFs_Mouse0.85333338
104CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.84377678
105KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.83936102
106KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.83936102
107KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.83936102
108MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.83889432
109* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.83556434
110NOTCH1_21737748_ChIP-Seq_TLL_Human0.81719798
111NANOG_21062744_ChIP-ChIP_HESCs_Human0.81267952
112FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.78305807
113IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.76893874

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.90736798
2MP0004957_abnormal_blastocyst_morpholog4.30667922
3MP0010094_abnormal_chromosome_stability3.71593944
4MP0003111_abnormal_nucleus_morphology3.56041389
5MP0003077_abnormal_cell_cycle3.55729681
6MP0008057_abnormal_DNA_replication2.97128232
7MP0008007_abnormal_cellular_replicative2.49807711
8MP0008932_abnormal_embryonic_tissue2.47743595
9MP0010352_gastrointestinal_tract_polyps2.46766862
10MP0008058_abnormal_DNA_repair2.43068027
11MP0001730_embryonic_growth_arrest2.24119226
12MP0002396_abnormal_hematopoietic_system2.14721829
13MP0000350_abnormal_cell_proliferation2.07152711
14MP0009697_abnormal_copulation1.96286251
15MP0002877_abnormal_melanocyte_morpholog1.93644747
16MP0000490_abnormal_crypts_of1.87769112
17MP0009379_abnormal_foot_pigmentation1.83506838
18MP0006054_spinal_hemorrhage1.80346955
19MP0003123_paternal_imprinting1.79648584
20MP0010307_abnormal_tumor_latency1.67955407
21MP0009333_abnormal_splenocyte_physiolog1.65698762
22MP0006036_abnormal_mitochondrial_physio1.63464057
23MP0001697_abnormal_embryo_size1.59105896
24MP0003786_premature_aging1.58378113
25MP0003806_abnormal_nucleotide_metabolis1.57043935
26MP0000537_abnormal_urethra_morphology1.49240573
27* MP0002080_prenatal_lethality1.49032960
28MP0001672_abnormal_embryogenesis/_devel1.47633488
29MP0005380_embryogenesis_phenotype1.47633488
30MP0002019_abnormal_tumor_incidence1.45878670
31MP0004808_abnormal_hematopoietic_stem1.45108297
32MP0004185_abnormal_adipocyte_glucose1.44538204
33MP0003567_abnormal_fetal_cardiomyocyte1.44083566
34MP0003763_abnormal_thymus_physiology1.44011985
35MP0010030_abnormal_orbit_morphology1.43736633
36MP0002085_abnormal_embryonic_tissue1.39006766
37MP0008995_early_reproductive_senescence1.35580878
38MP0003984_embryonic_growth_retardation1.35185586
39MP0002084_abnormal_developmental_patter1.33626186
40MP0004197_abnormal_fetal_growth/weight/1.33146979
41MP0002088_abnormal_embryonic_growth/wei1.32828088
42MP0000313_abnormal_cell_death1.31587701
43MP0006035_abnormal_mitochondrial_morpho1.26678823
44MP0002086_abnormal_extraembryonic_tissu1.26095922
45MP0003718_maternal_effect1.25734800
46MP0009672_abnormal_birth_weight1.24085403
47MP0001881_abnormal_mammary_gland1.23420739
48MP0000678_abnormal_parathyroid_gland1.19693747
49MP0005397_hematopoietic_system_phenotyp1.18217140
50MP0001545_abnormal_hematopoietic_system1.18217140
51MP0002398_abnormal_bone_marrow1.18088041
52MP0003705_abnormal_hypodermis_morpholog1.16217110
53MP0000703_abnormal_thymus_morphology1.14503919
54MP0005023_abnormal_wound_healing1.13454148
55MP0003186_abnormal_redox_activity1.13447954
56MP0002722_abnormal_immune_system1.13334282
57MP0009053_abnormal_anal_canal1.12272238
58MP0000858_altered_metastatic_potential1.12256825
59MP0001293_anophthalmia1.09865330
60MP0000689_abnormal_spleen_morphology1.05452614
61MP0002009_preneoplasia1.03217789
62MP0005076_abnormal_cell_differentiation1.02748031
63MP0005451_abnormal_body_composition1.01931453
64MP0003315_abnormal_perineum_morphology0.99248633
65MP0003566_abnormal_cell_adhesion0.97459814
66MP0001853_heart_inflammation0.96404169
67MP0005501_abnormal_skin_physiology0.96038916
68MP0002429_abnormal_blood_cell0.95829907
69MP0000358_abnormal_cell_content/0.95752111
70MP0010234_abnormal_vibrissa_follicle0.93664982
71MP0000685_abnormal_immune_system0.92459416
72MP0000465_gastrointestinal_hemorrhage0.90741057
73MP0001873_stomach_inflammation0.89466931
74MP0004147_increased_porphyrin_level0.88800452
75MP0001346_abnormal_lacrimal_gland0.88462347
76MP0004264_abnormal_extraembryonic_tissu0.87658685
77MP0002132_abnormal_respiratory_system0.86163501
78MP0006292_abnormal_olfactory_placode0.84710969
79MP0000762_abnormal_tongue_morphology0.84001168
80MP0000716_abnormal_immune_system0.83776371
81MP0002160_abnormal_reproductive_system0.82378547
82MP0002405_respiratory_system_inflammati0.82009004
83MP0002282_abnormal_trachea_morphology0.81203874
84MP0002111_abnormal_tail_morphology0.81030847
85MP0002938_white_spotting0.81016362
86MP0001849_ear_inflammation0.79799824
87MP0000477_abnormal_intestine_morphology0.78932694
88MP0003890_abnormal_embryonic-extraembry0.78600042
89MP0001915_intracranial_hemorrhage0.78399181
90MP0000627_abnormal_mammary_gland0.78331033
91MP0005075_abnormal_melanosome_morpholog0.77955042
92MP0001800_abnormal_humoral_immune0.77719979
93MP0003221_abnormal_cardiomyocyte_apopto0.75191820
94MP0002210_abnormal_sex_determination0.74459021
95MP0001835_abnormal_antigen_presentation0.74432804
96MP0002697_abnormal_eye_size0.74064711
97MP0002420_abnormal_adaptive_immunity0.72953765
98MP0004782_abnormal_surfactant_physiolog0.72717877
99MP0001286_abnormal_eye_development0.72290169
100MP0009278_abnormal_bone_marrow0.72201564
101MP0003941_abnormal_skin_development0.72189027
102MP0001145_abnormal_male_reproductive0.71788391
103MP0001819_abnormal_immune_cell0.71537378
104MP0004133_heterotaxia0.70799611
105MP0000750_abnormal_muscle_regeneration0.70736797
106MP0002060_abnormal_skin_morphology0.70699396
107MP0003448_altered_tumor_morphology0.70094827
108MP0003121_genomic_imprinting0.69864408
109MP0002452_abnormal_antigen_presenting0.69830196
110MP0002092_abnormal_eye_morphology0.67921650
111MP0000733_abnormal_muscle_development0.67715809
112MP0004233_abnormal_muscle_weight0.67368267
113MP0005384_cellular_phenotype0.66728067
114MP0003119_abnormal_digestive_system0.66595475
115MP0003656_abnormal_erythrocyte_physiolo0.66558820
116MP0002166_altered_tumor_susceptibility0.65411741
117MP0008877_abnormal_DNA_methylation0.64642424
118MP0005408_hypopigmentation0.64590585
119MP0003937_abnormal_limbs/digits/tail_de0.64195714
120MP0008260_abnormal_autophagy0.64182275
121MP0010155_abnormal_intestine_physiology0.63904769
122MP0002006_tumorigenesis0.63062740
123MP0001216_abnormal_epidermal_layer0.63037456
124MP0002796_impaired_skin_barrier0.62790525
125MP0001727_abnormal_embryo_implantation0.62022581
126MP0001243_abnormal_dermal_layer0.61275177
127MP0001929_abnormal_gametogenesis0.61158437
128MP0005621_abnormal_cell_physiology0.61079315
129MP0001661_extended_life_span0.60342266
130MP0001764_abnormal_homeostasis0.59994295
131MP0001340_abnormal_eyelid_morphology0.59949088
132MP0009931_abnormal_skin_appearance0.57372829

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)6.85350299
2Abnormal number of erythroid precursors (HP:0012131)6.15029444
3Reticulocytopenia (HP:0001896)6.06711999
4Macrocytic anemia (HP:0001972)4.39225209
5Pallor (HP:0000980)4.14170082
6Increased hepatocellular lipid droplets (HP:0006565)3.86844132
7Birth length less than 3rd percentile (HP:0003561)3.76156221
8Microvesicular hepatic steatosis (HP:0001414)3.71152735
9Colon cancer (HP:0003003)3.57598569
10Oral leukoplakia (HP:0002745)3.53240648
11Selective tooth agenesis (HP:0001592)3.51233734
12Acute necrotizing encephalopathy (HP:0006965)3.42020316
13Abnormal mitochondria in muscle tissue (HP:0008316)3.41085145
14Lipid accumulation in hepatocytes (HP:0006561)3.30056598
15Breast hypoplasia (HP:0003187)3.24926923
16Aplastic anemia (HP:0001915)3.21853556
17Multiple enchondromatosis (HP:0005701)3.17787676
18Increased intramyocellular lipid droplets (HP:0012240)3.11156207
19Acute encephalopathy (HP:0006846)3.06461376
20Thrombocytosis (HP:0001894)3.00875653
21Mitochondrial inheritance (HP:0001427)3.00580508
22Trismus (HP:0000211)3.00461811
23Increased CSF lactate (HP:0002490)2.85441160
24Respiratory difficulties (HP:0002880)2.85190232
25Degeneration of anterior horn cells (HP:0002398)2.80114380
26Abnormality of the anterior horn cell (HP:0006802)2.80114380
27Progressive muscle weakness (HP:0003323)2.79073238
28Rough bone trabeculation (HP:0100670)2.73923277
29Renal Fanconi syndrome (HP:0001994)2.73132401
30Hepatocellular necrosis (HP:0001404)2.71936534
31Patellar aplasia (HP:0006443)2.64061071
32Increased muscle lipid content (HP:0009058)2.60100537
3311 pairs of ribs (HP:0000878)2.59935475
34Microretrognathia (HP:0000308)2.59803162
35Carpal bone hypoplasia (HP:0001498)2.59601538
36Cerebral edema (HP:0002181)2.57078916
37Hepatic necrosis (HP:0002605)2.56121004
38Progressive macrocephaly (HP:0004481)2.54913916
39Glossoptosis (HP:0000162)2.54891422
40Aplasia/Hypoplasia of the patella (HP:0006498)2.49748595
41Reduced antithrombin III activity (HP:0001976)2.49002182
42Ependymoma (HP:0002888)2.48280637
43Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.47352063
44Absent thumb (HP:0009777)2.47143150
45Increased serum lactate (HP:0002151)2.44377241
46Neoplasm of the pancreas (HP:0002894)2.41000848
47Exercise intolerance (HP:0003546)2.40522802
48Aplasia/Hypoplasia of the sacrum (HP:0008517)2.38128691
49Abnormality of reticulocytes (HP:0004312)2.37966366
50Abnormality of methionine metabolism (HP:0010901)2.36781725
51Cerebral hypomyelination (HP:0006808)2.34518063
52Stenosis of the external auditory canal (HP:0000402)2.34162197
53Medulloblastoma (HP:0002885)2.32710950
54Lactic acidosis (HP:0003128)2.29872007
55Atresia of the external auditory canal (HP:0000413)2.26435321
56Agnosia (HP:0010524)2.24239675
57Short middle phalanx of the 5th finger (HP:0004220)2.24221655
58Basal cell carcinoma (HP:0002671)2.24090075
59IgM deficiency (HP:0002850)2.19510729
60Premature graying of hair (HP:0002216)2.18129286
61Exertional dyspnea (HP:0002875)2.18094522
62Myelodysplasia (HP:0002863)2.17236260
63Abnormal number of incisors (HP:0011064)2.16688996
64Proximal placement of thumb (HP:0009623)2.13968205
65Type I transferrin isoform profile (HP:0003642)2.13350951
66Deviation of the thumb (HP:0009603)2.10225064
67Gout (HP:0001997)2.08952476
68Cholecystitis (HP:0001082)2.05010838
69Abnormal gallbladder physiology (HP:0012438)2.05010838
70Progressive external ophthalmoplegia (HP:0000590)2.03303355
71Abnormality of the preputium (HP:0100587)2.02862971
723-Methylglutaconic aciduria (HP:0003535)2.00580431
73Meckel diverticulum (HP:0002245)2.00312784
74Missing ribs (HP:0000921)2.00028596
75Megaloblastic anemia (HP:0001889)1.98307125
76Squamous cell carcinoma (HP:0002860)1.98035938
77Abnormality of the calcaneus (HP:0008364)1.97528094
78Absent radius (HP:0003974)1.97379460
79Abnormality of chromosome stability (HP:0003220)1.97065603
80Depressed nasal ridge (HP:0000457)1.96973937
81Abnormal trabecular bone morphology (HP:0100671)1.96142794
82Asplenia (HP:0001746)1.96030761
83Cellular immunodeficiency (HP:0005374)1.95966291
84Abnormal lung lobation (HP:0002101)1.95073682
85Cleft eyelid (HP:0000625)1.93748872
86Premature ovarian failure (HP:0008209)1.93171523
87Rhabdomyosarcoma (HP:0002859)1.93091138
88Abnormality of the ileum (HP:0001549)1.91590335
89Abnormal hemoglobin (HP:0011902)1.90314121
90Abnormality of placental membranes (HP:0011409)1.90281265
91Amniotic constriction ring (HP:0009775)1.90281265
92Calcaneovalgus deformity (HP:0001848)1.89620054
93Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.87689429
94Chromsome breakage (HP:0040012)1.87055028
95Secondary amenorrhea (HP:0000869)1.86508503
96Abnormality of the umbilical cord (HP:0010881)1.86270247
97Duodenal stenosis (HP:0100867)1.85951849
98Small intestinal stenosis (HP:0012848)1.85951849
99Tracheoesophageal fistula (HP:0002575)1.84564665
100Amaurosis fugax (HP:0100576)1.84047850
101Abnormal umbilical cord blood vessels (HP:0011403)1.83540389
102Single umbilical artery (HP:0001195)1.83540389
103Abnormality of the fetal cardiovascular system (HP:0010948)1.83540389
104Respiratory failure (HP:0002878)1.83330687
105Aplasia/Hypoplasia of the spleen (HP:0010451)1.83265577
106Testicular atrophy (HP:0000029)1.82907101
107Lymphoma (HP:0002665)1.81489901
108Abnormalities of placenta or umbilical cord (HP:0001194)1.81046847
109Seborrheic dermatitis (HP:0001051)1.79779742
110Leukodystrophy (HP:0002415)1.79760886
111Absent forearm bone (HP:0003953)1.79466461
112Aplasia involving forearm bones (HP:0009822)1.79466461
113Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.78936282
114Decreased activity of mitochondrial respiratory chain (HP:0008972)1.78936282
115Triphalangeal thumb (HP:0001199)1.77342702
116Horseshoe kidney (HP:0000085)1.77319188
117Deformed tarsal bones (HP:0008119)1.76265683
118Bone marrow hypocellularity (HP:0005528)1.75778261
119Ragged-red muscle fibers (HP:0003200)1.75684818
120Septate vagina (HP:0001153)1.75047483
121Nephroblastoma (Wilms tumor) (HP:0002667)1.71327632
122Neoplasm of the colon (HP:0100273)1.71010496
123Angiofibromas (HP:0010615)1.70096537
124Adenoma sebaceum (HP:0009720)1.70096537
125Thick lower lip vermilion (HP:0000179)1.68576857
126Slender long bone (HP:0003100)1.68531617
127Supernumerary spleens (HP:0009799)1.67795257
128Abnormality of glycolysis (HP:0004366)1.67634305
129Increased serum pyruvate (HP:0003542)1.67634305
130Hypoplasia of the radius (HP:0002984)1.67215810
131Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.66895296
132Sparse eyelashes (HP:0000653)1.66600365
133Pancytopenia (HP:0001876)1.66306872
134Aplasia/Hypoplasia of the uvula (HP:0010293)1.64906551
135Abnormality of aspartate family amino acid metabolism (HP:0010899)1.64596018
136Aplasia/Hypoplasia of the thymus (HP:0010515)1.63073022
137Overlapping toe (HP:0001845)1.62516307
138Spastic paraparesis (HP:0002313)1.61362078
139Poor head control (HP:0002421)1.61032038
140Congenital, generalized hypertrichosis (HP:0004540)1.60781632
141Chromosomal breakage induced by crosslinking agents (HP:0003221)1.59755348
142Hypoplasia of the capital femoral epiphysis (HP:0003090)1.58462863
143Increased density of long bones (HP:0006392)1.58401318
144Postnatal microcephaly (HP:0005484)1.57830638
145Petechiae (HP:0000967)1.57804339
146Atrophy/Degeneration involving motor neurons (HP:0007373)1.57532578
147Nasolacrimal duct obstruction (HP:0000579)1.56284841
148Facial cleft (HP:0002006)1.56035086

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.03875119
2BUB13.94724667
3WEE13.70339011
4NME23.45294399
5CDC73.20039376
6EIF2AK12.90628601
7EEF2K2.55366687
8RPS6KB22.35751154
9TESK22.34852545
10CDK192.23835213
11NEK22.14316405
12PASK2.06300711
13SMG12.05025110
14SRPK12.02116490
15EIF2AK32.00200567
16TGFBR11.93932442
17TSSK61.86411167
18ACVR1B1.86165408
19DYRK31.80856035
20LRRK21.79257036
21STK161.72678103
22RPS6KA41.70412260
23BRSK21.65215638
24VRK11.62910341
25TTK1.61725023
26NEK11.57860318
27PIM21.57158557
28AURKB1.55244020
29MKNK11.53935339
30PAK41.53073494
31CDK71.50251137
32STK101.49124196
33SCYL21.48902951
34TESK11.48273898
35PKN21.46885217
36PLK11.46816318
37MAP3K81.44721605
38MAP3K101.32098317
39PLK41.30744979
40EPHA21.29768168
41TAF11.28061281
42MST41.27015262
43TLK11.26887321
44ATR1.24009205
45MAP4K11.22868367
46FLT31.12914760
47CDK41.12243813
48KDR1.12070428
49AURKA1.09179834
50MAPKAPK31.06346396
51PLK31.05351008
52ILK1.04477485
53MAP3K120.99181180
54LIMK10.98680110
55PRPF4B0.97066501
56IRAK30.94772897
57CHEK10.91846745
58PIM10.89340810
59PBK0.88981616
60CHEK20.87486523
61PAK10.82629420
62STK40.80842598
63BRSK10.80158545
64TRIB30.77940896
65ARAF0.77520317
66BTK0.75039383
67MAP2K30.74917062
68ZAP700.72387737
69CSNK2A20.71039320
70CDK60.70076213
71TAOK20.69989506
72DAPK10.69005511
73BMPR20.66760173
74CDK120.63068434
75PAK20.62595119
76CSNK2A10.62584223
77MKNK20.61849808
78MAP3K110.60392986
79ICK0.59742240
80ALK0.58639121
81DYRK20.57015259
82CDK20.56466888
83ATM0.56379380
84ZAK0.55340064
85NME10.55139891
86RPS6KA50.55120267
87CDK90.53129139
88GRK60.52361825
89BRAF0.52319858
90LATS20.51514118
91MAP3K30.51124826
92PDK20.48907436
93MST1R0.48467987
94EIF2AK20.47572660
95JAK30.45905164
96PRKCI0.45692935
97TEC0.44016463
98MELK0.42591404
99TYK20.42473462
100DAPK30.41403749
101CDK80.41324685
102CDK11A0.38860322
103MAPKAPK20.38337202
104STK30.37630153
105ERBB40.37089269
106CDK10.36966658
107CSF1R0.35218349
108BRD40.35166994
109BLK0.32775504
110CSNK1E0.32086512
111AKT20.31191117
112MAP2K20.31131714
113MAPKAPK50.30992781
114TTN0.30769371
115NUAK10.30719057
116NLK0.29334714
117CLK10.29260860
118RAF10.28486686
119CSNK1G30.28290359
120CCNB10.28265891
121STK240.26961945
122IKBKB0.26255642
123BCKDK0.25737492
124CDK140.25448530
125ABL20.25026128
126DYRK1B0.24458253
127RPS6KA10.23827585
128MTOR0.23825073
129CDK150.23046399
130PTK60.21950124

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.28657540
2DNA replication_Homo sapiens_hsa030304.50938056
3Proteasome_Homo sapiens_hsa030503.79482260
4Mismatch repair_Homo sapiens_hsa034303.73255714
5Spliceosome_Homo sapiens_hsa030403.29946867
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.12318789
7RNA polymerase_Homo sapiens_hsa030203.01434306
8RNA transport_Homo sapiens_hsa030132.90289639
9Nucleotide excision repair_Homo sapiens_hsa034202.63841891
10Base excision repair_Homo sapiens_hsa034102.62205133
11Homologous recombination_Homo sapiens_hsa034402.37286230
12One carbon pool by folate_Homo sapiens_hsa006702.35475181
13Cell cycle_Homo sapiens_hsa041102.33292442
14Pyrimidine metabolism_Homo sapiens_hsa002402.29544081
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.26325013
16Non-homologous end-joining_Homo sapiens_hsa034501.73295510
17RNA degradation_Homo sapiens_hsa030181.65748436
18Fanconi anemia pathway_Homo sapiens_hsa034601.54422651
19Basal transcription factors_Homo sapiens_hsa030221.54002330
20p53 signaling pathway_Homo sapiens_hsa041151.52891203
21mRNA surveillance pathway_Homo sapiens_hsa030151.39990940
22Epstein-Barr virus infection_Homo sapiens_hsa051691.23013977
23Protein export_Homo sapiens_hsa030601.21146015
24Systemic lupus erythematosus_Homo sapiens_hsa053221.19582528
25Pyruvate metabolism_Homo sapiens_hsa006201.15700895
26Antigen processing and presentation_Homo sapiens_hsa046121.15241105
27Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.13462174
28Purine metabolism_Homo sapiens_hsa002301.08825893
29Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.08752238
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.05836421
31Viral carcinogenesis_Homo sapiens_hsa052031.00979117
32Pentose phosphate pathway_Homo sapiens_hsa000300.92038514
33Herpes simplex infection_Homo sapiens_hsa051680.91445539
34Parkinsons disease_Homo sapiens_hsa050120.85377616
35Fatty acid elongation_Homo sapiens_hsa000620.84649622
36Huntingtons disease_Homo sapiens_hsa050160.80373716
37Cyanoamino acid metabolism_Homo sapiens_hsa004600.79459272
38Legionellosis_Homo sapiens_hsa051340.79020149
39Primary immunodeficiency_Homo sapiens_hsa053400.78820684
40Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.76969758
41Glutathione metabolism_Homo sapiens_hsa004800.75764215
42HTLV-I infection_Homo sapiens_hsa051660.75394958
43Sulfur relay system_Homo sapiens_hsa041220.75034421
44Folate biosynthesis_Homo sapiens_hsa007900.75025120
45Biosynthesis of amino acids_Homo sapiens_hsa012300.72706775
46Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.72048024
47Small cell lung cancer_Homo sapiens_hsa052220.71250884
48Cardiac muscle contraction_Homo sapiens_hsa042600.69536432
49Thyroid cancer_Homo sapiens_hsa052160.66118777
50Oxidative phosphorylation_Homo sapiens_hsa001900.64206844
51Shigellosis_Homo sapiens_hsa051310.63299092
52Cysteine and methionine metabolism_Homo sapiens_hsa002700.62615565
53Selenocompound metabolism_Homo sapiens_hsa004500.61897673
54Fructose and mannose metabolism_Homo sapiens_hsa000510.61889930
55Apoptosis_Homo sapiens_hsa042100.57319713
56Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.56922780
57Drug metabolism - other enzymes_Homo sapiens_hsa009830.56374373
58Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.55694463
59Oocyte meiosis_Homo sapiens_hsa041140.54899296
60MicroRNAs in cancer_Homo sapiens_hsa052060.53259247
61Transcriptional misregulation in cancer_Homo sapiens_hsa052020.50154471
62Measles_Homo sapiens_hsa051620.49525389
63Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.49088399
64TGF-beta signaling pathway_Homo sapiens_hsa043500.47843086
65N-Glycan biosynthesis_Homo sapiens_hsa005100.47597820
66Galactose metabolism_Homo sapiens_hsa000520.46496688
67Carbon metabolism_Homo sapiens_hsa012000.44599249
68Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.43815801
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.42487720
70Viral myocarditis_Homo sapiens_hsa054160.42373686
71Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.42294072
72Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.42075821
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.42017897
74Bladder cancer_Homo sapiens_hsa052190.41415311
75NF-kappa B signaling pathway_Homo sapiens_hsa040640.41399720
76Hematopoietic cell lineage_Homo sapiens_hsa046400.41137139
77Chronic myeloid leukemia_Homo sapiens_hsa052200.40939021
78Hepatitis B_Homo sapiens_hsa051610.39170455
79Colorectal cancer_Homo sapiens_hsa052100.37009992
80Propanoate metabolism_Homo sapiens_hsa006400.36840914
81Hippo signaling pathway_Homo sapiens_hsa043900.35446018
82Alcoholism_Homo sapiens_hsa050340.33198723
83Basal cell carcinoma_Homo sapiens_hsa052170.31859058
84Pancreatic cancer_Homo sapiens_hsa052120.30373366
85Notch signaling pathway_Homo sapiens_hsa043300.29913369
86Leukocyte transendothelial migration_Homo sapiens_hsa046700.28673925
87HIF-1 signaling pathway_Homo sapiens_hsa040660.27939489
88Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.27761690
89NOD-like receptor signaling pathway_Homo sapiens_hsa046210.27622801
90Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.27397578
91Pathways in cancer_Homo sapiens_hsa052000.27330003
92Renin-angiotensin system_Homo sapiens_hsa046140.27248940
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.27031016
94Alzheimers disease_Homo sapiens_hsa050100.25531706
95Acute myeloid leukemia_Homo sapiens_hsa052210.25315961
96Asthma_Homo sapiens_hsa053100.25103551
97Intestinal immune network for IgA production_Homo sapiens_hsa046720.24195101
98Vitamin digestion and absorption_Homo sapiens_hsa049770.23410651
99Leishmaniasis_Homo sapiens_hsa051400.23239006
1002-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.23190980
101Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.22393570
102Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.22323316
103Central carbon metabolism in cancer_Homo sapiens_hsa052300.22094290
104Adherens junction_Homo sapiens_hsa045200.21919933
105Allograft rejection_Homo sapiens_hsa053300.21184755
106Influenza A_Homo sapiens_hsa051640.20826142
107Sulfur metabolism_Homo sapiens_hsa009200.18995084
108Metabolic pathways_Homo sapiens_hsa011000.18679166
109Arginine and proline metabolism_Homo sapiens_hsa003300.18060078
110Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.18022567
111Toxoplasmosis_Homo sapiens_hsa051450.17422413
112RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.17349572
113Vitamin B6 metabolism_Homo sapiens_hsa007500.16910727
114Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.16328220
115Autoimmune thyroid disease_Homo sapiens_hsa053200.15992739
116Pentose and glucuronate interconversions_Homo sapiens_hsa000400.15300464
117Non-small cell lung cancer_Homo sapiens_hsa052230.13644542
118Tyrosine metabolism_Homo sapiens_hsa003500.12999251
119Vibrio cholerae infection_Homo sapiens_hsa051100.10246443
120Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.06999187

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