RBBP7

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 protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitotic metaphase plate congression (GO:0007080)5.07938850
2protein localization to kinetochore (GO:0034501)4.69059396
3DNA strand elongation involved in DNA replication (GO:0006271)4.68881249
4DNA replication initiation (GO:0006270)4.56564517
5attachment of spindle microtubules to kinetochore (GO:0008608)4.49688410
6metaphase plate congression (GO:0051310)4.48184838
7DNA strand elongation (GO:0022616)4.46339380
8DNA unwinding involved in DNA replication (GO:0006268)4.34274244
9telomere maintenance via semi-conservative replication (GO:0032201)4.33435665
10mitotic chromosome condensation (GO:0007076)4.27034786
11DNA replication checkpoint (GO:0000076)4.26337388
12establishment of integrated proviral latency (GO:0075713)4.22403455
13nucleobase biosynthetic process (GO:0046112)4.19695148
14mitotic nuclear envelope disassembly (GO:0007077)4.13878792
15purine nucleobase biosynthetic process (GO:0009113)4.08679908
16telomere maintenance via recombination (GO:0000722)4.07024264
17* CENP-A containing nucleosome assembly (GO:0034080)4.05050582
18* chromatin remodeling at centromere (GO:0031055)3.97188917
19DNA replication-dependent nucleosome organization (GO:0034723)3.96989729
20DNA replication-dependent nucleosome assembly (GO:0006335)3.96989729
21establishment of chromosome localization (GO:0051303)3.95895450
22protein localization to chromosome, centromeric region (GO:0071459)3.92389565
23mitotic sister chromatid cohesion (GO:0007064)3.90624314
24mitotic recombination (GO:0006312)3.87730226
25membrane disassembly (GO:0030397)3.85557806
26nuclear envelope disassembly (GO:0051081)3.85557806
27ribosome assembly (GO:0042255)3.82429528
28folic acid-containing compound biosynthetic process (GO:0009396)3.80705053
29* DNA replication-independent nucleosome assembly (GO:0006336)3.79020617
30* DNA replication-independent nucleosome organization (GO:0034724)3.79020617
31nuclear pore organization (GO:0006999)3.78227062
32formation of translation preinitiation complex (GO:0001731)3.75886800
33pore complex assembly (GO:0046931)3.74644150
34DNA ligation (GO:0006266)3.74105355
35synapsis (GO:0007129)3.69678376
36kinetochore organization (GO:0051383)3.69151257
37regulation of spindle organization (GO:0090224)3.66103562
38mitotic sister chromatid segregation (GO:0000070)3.63016246
39telomere maintenance via telomere lengthening (GO:0010833)3.62425015
40IMP biosynthetic process (GO:0006188)3.62292640
41negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.53855098
42DNA synthesis involved in DNA repair (GO:0000731)3.47922828
43maturation of SSU-rRNA (GO:0030490)3.43038901
44regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.42332418
45IMP metabolic process (GO:0046040)3.41930102
46nucleotide-excision repair, DNA gap filling (GO:0006297)3.41663714
47spindle checkpoint (GO:0031577)3.40154759
48* histone exchange (GO:0043486)3.39149929
49meiotic chromosome segregation (GO:0045132)3.38987634
50regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.38787151
51negative regulation of chromosome segregation (GO:0051985)3.38464448
52maturation of 5.8S rRNA (GO:0000460)3.38300171
53negative regulation of mitotic sister chromatid separation (GO:2000816)3.37941723
54negative regulation of mitotic sister chromatid segregation (GO:0033048)3.37941723
55negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.37941723
56negative regulation of sister chromatid segregation (GO:0033046)3.37941723
57regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.37571909
58non-recombinational repair (GO:0000726)3.34553362
59double-strand break repair via nonhomologous end joining (GO:0006303)3.34553362
60DNA deamination (GO:0045006)3.33788926
61spindle assembly checkpoint (GO:0071173)3.33741633
62mitotic spindle assembly checkpoint (GO:0007094)3.32254153
63sister chromatid segregation (GO:0000819)3.31379157
64regulation of chromosome segregation (GO:0051983)3.29433731
65ribosome biogenesis (GO:0042254)3.27123219
66regulation of translational fidelity (GO:0006450)3.26372649
67kinetochore assembly (GO:0051382)3.25526242
68regulation of mitotic metaphase/anaphase transition (GO:0030071)3.24980639
69mitotic spindle checkpoint (GO:0071174)3.24946312
70anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.24191903
71base-excision repair (GO:0006284)3.22868690
72ribosomal small subunit assembly (GO:0000028)3.22362936
73positive regulation of chromosome segregation (GO:0051984)3.22335358
74establishment of viral latency (GO:0019043)3.20308808
75DNA topological change (GO:0006265)3.17846176
76chromosome organization involved in meiosis (GO:0070192)3.16709593
77proteasome assembly (GO:0043248)3.14539792
78viral mRNA export from host cell nucleus (GO:0046784)3.14533485
79regulation of centriole replication (GO:0046599)3.14354885
80nuclear pore complex assembly (GO:0051292)3.14163108
81regulation of sister chromatid cohesion (GO:0007063)3.13078841
82regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.11975586
83chromosome condensation (GO:0030261)3.11700764
84regulation of centrosome cycle (GO:0046605)3.09410693
85regulation of mitotic sister chromatid separation (GO:0010965)3.08732267
86regulation of mitotic sister chromatid segregation (GO:0033047)3.08732267
87regulation of sister chromatid segregation (GO:0033045)3.08732267
88nuclear envelope organization (GO:0006998)3.07539459
89* chromatin assembly or disassembly (GO:0006333)3.06706925
90regulation of mitotic spindle organization (GO:0060236)3.05681327
91protein localization to chromosome (GO:0034502)3.04653243
92regulation of double-strand break repair via homologous recombination (GO:0010569)3.03775137
93sister chromatid cohesion (GO:0007062)3.03477724
94negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.03316242
95chromosome segregation (GO:0007059)3.02819292
96G1/S transition of mitotic cell cycle (GO:0000082)3.00133871
97cell cycle G1/S phase transition (GO:0044843)3.00133871
98positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.99366592
99negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.95936696
100* ATP-dependent chromatin remodeling (GO:0043044)2.95739360
101ribonucleoprotein complex biogenesis (GO:0022613)2.93754855
102DNA packaging (GO:0006323)2.91270906
103regulation of mitochondrial translation (GO:0070129)2.90179257
104regulation of DNA endoreduplication (GO:0032875)2.87101921
105ribosomal large subunit biogenesis (GO:0042273)2.86899915
106mitotic cell cycle (GO:0000278)2.86693168
107transcription-coupled nucleotide-excision repair (GO:0006283)2.86208615
108somatic diversification of immune receptors via somatic mutation (GO:0002566)2.85992234
109somatic hypermutation of immunoglobulin genes (GO:0016446)2.85992234
110rRNA processing (GO:0006364)2.85174529
111DNA duplex unwinding (GO:0032508)2.84859047
112telomere maintenance (GO:0000723)2.84804806
113spliceosomal snRNP assembly (GO:0000387)2.84682867
114DNA geometric change (GO:0032392)2.84494660
115protein K6-linked ubiquitination (GO:0085020)2.83077362
116DNA conformation change (GO:0071103)2.82847348
117telomere organization (GO:0032200)2.82704242
118positive regulation of mitotic sister chromatid separation (GO:1901970)2.80579192
119positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.80579192
120positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.80579192
121deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.80482669
122translesion synthesis (GO:0019985)2.80149623
123negative regulation of mitosis (GO:0045839)2.78183135
124postreplication repair (GO:0006301)2.76728956
125protein deneddylation (GO:0000338)2.76412941

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.94418271
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.40836723
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.40628139
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.86333574
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.75626871
6FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.49889159
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.16367141
8AR_21909140_ChIP-Seq_LNCAP_Human2.97464893
9MYC_19079543_ChIP-ChIP_MESCs_Mouse2.89796182
10* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.86485621
11EST1_17652178_ChIP-ChIP_JURKAT_Human2.85123995
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.84505657
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.76842200
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.71165103
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.66130139
16CREB1_15753290_ChIP-ChIP_HEK293T_Human2.57371875
17* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.56740123
18E2F1_21310950_ChIP-Seq_MCF-7_Human2.27759573
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.25508373
20MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.25209667
21* XRN2_22483619_ChIP-Seq_HELA_Human2.23583322
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.18268187
23VDR_23849224_ChIP-Seq_CD4+_Human2.17185904
24* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.13962571
25DCP1A_22483619_ChIP-Seq_HELA_Human2.05901685
26PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.03310229
27EGR1_19374776_ChIP-ChIP_THP-1_Human2.01581356
28NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.99534321
29* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.98426555
30GABP_19822575_ChIP-Seq_HepG2_Human1.96755165
31MYCN_18555785_ChIP-Seq_MESCs_Mouse1.95977230
32MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.91056902
33ZFX_18555785_ChIP-Seq_MESCs_Mouse1.85343237
34FOXP3_21729870_ChIP-Seq_TREG_Human1.84969569
35* TTF2_22483619_ChIP-Seq_HELA_Human1.79632990
36NANOG_18555785_ChIP-Seq_MESCs_Mouse1.69380810
37ELK1_19687146_ChIP-ChIP_HELA_Human1.67555115
38ESR1_15608294_ChIP-ChIP_MCF-7_Human1.67284136
39ELF1_17652178_ChIP-ChIP_JURKAT_Human1.67170304
40POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.66901891
41FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.65109264
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.64036011
43SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.60942241
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.57895554
45THAP11_20581084_ChIP-Seq_MESCs_Mouse1.56307944
46CIITA_25753668_ChIP-Seq_RAJI_Human1.50402765
47TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.49760976
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49409597
49MYC_22102868_ChIP-Seq_BL_Human1.49397548
50RBPJ_22232070_ChIP-Seq_NCS_Mouse1.44139571
51KDM5A_27292631_Chip-Seq_BREAST_Human1.43067318
52MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.35051260
53POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.32000025
54SRF_21415370_ChIP-Seq_HL-1_Mouse1.31497815
55CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.31352512
56KLF4_18555785_ChIP-Seq_MESCs_Mouse1.30538486
57YY1_21170310_ChIP-Seq_MESCs_Mouse1.26070133
58E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.25241005
59ERG_20887958_ChIP-Seq_HPC-7_Mouse1.24115046
60STAT3_1855785_ChIP-Seq_MESCs_Mouse1.23046426
61* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.21120184
62ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.19879476
63ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.19101014
64CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.18703735
65SALL1_21062744_ChIP-ChIP_HESCs_Human1.17937751
66TFEB_21752829_ChIP-Seq_HELA_Human1.17244949
67CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.16544008
68PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14725680
69E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.14623355
70DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.14212585
71POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.09416478
72TP63_19390658_ChIP-ChIP_HaCaT_Human1.09074205
73ZNF263_19887448_ChIP-Seq_K562_Human1.08202305
74* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.07818647
75MYC_18940864_ChIP-ChIP_HL60_Human1.05228687
76FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.04654763
77SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.04466787
78PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.02224404
79TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.00105171
80* PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.99524272
81TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.98856286
82ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.96533541
83CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.96044960
84BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.95246869
85* SOX2_18555785_ChIP-Seq_MESCs_Mouse0.94969028
86* NANOG_21062744_ChIP-ChIP_HESCs_Human0.94411499
87HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.92640675
88ELK1_22589737_ChIP-Seq_MCF10A_Human0.92594587
89KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.91915828
90NOTCH1_21737748_ChIP-Seq_TLL_Human0.91101833
91* HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.90234769
92CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.88800929
93* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88052749
94SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.87472746
95* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.87360272
96HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.87068970
97CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.86212682
98KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.85839742
99* SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.82972537
100* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.81764077
101* NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.80346891
102CHD1_26751641_Chip-Seq_LNCaP_Human0.80273880
103* SOX17_20123909_ChIP-Seq_XEN_Mouse0.79321121
104TBX5_21415370_ChIP-Seq_HL-1_Mouse0.78715708
105DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.78449680
106NANOG_16153702_ChIP-ChIP_HESCs_Human0.75586120
107CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.74445431
108ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.71929478
109SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.69204954
110GATA4_21415370_ChIP-Seq_HL-1_Mouse0.68100782
111ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.67413787
112TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.66686079

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.41996093
2MP0010094_abnormal_chromosome_stability4.44584220
3MP0004957_abnormal_blastocyst_morpholog4.42791283
4MP0003111_abnormal_nucleus_morphology4.06980099
5MP0003077_abnormal_cell_cycle3.78150719
6MP0003123_paternal_imprinting3.59626341
7MP0008057_abnormal_DNA_replication3.00096390
8MP0008007_abnormal_cellular_replicative2.97466697
9MP0008058_abnormal_DNA_repair2.68728246
10MP0008932_abnormal_embryonic_tissue2.64243847
11MP0001730_embryonic_growth_arrest2.33302226
12MP0003718_maternal_effect2.31257791
13MP0008877_abnormal_DNA_methylation2.20727360
14MP0002396_abnormal_hematopoietic_system2.16348345
15MP0000350_abnormal_cell_proliferation2.11766231
16MP0003121_genomic_imprinting2.08603175
17MP0010352_gastrointestinal_tract_polyps2.07664508
18MP0008995_early_reproductive_senescence1.87550147
19MP0001697_abnormal_embryo_size1.85326818
20MP0006054_spinal_hemorrhage1.84434634
21MP0003567_abnormal_fetal_cardiomyocyte1.84169560
22MP0005380_embryogenesis_phenotype1.80427366
23MP0001672_abnormal_embryogenesis/_devel1.80427366
24MP0003786_premature_aging1.76425669
25MP0003984_embryonic_growth_retardation1.63549637
26MP0000490_abnormal_crypts_of1.62326083
27MP0010307_abnormal_tumor_latency1.61774382
28MP0002080_prenatal_lethality1.61588190
29MP0006292_abnormal_olfactory_placode1.61173482
30MP0002088_abnormal_embryonic_growth/wei1.60922997
31MP0002085_abnormal_embryonic_tissue1.57858750
32MP0004808_abnormal_hematopoietic_stem1.56517627
33MP0003315_abnormal_perineum_morphology1.53353716
34* MP0002084_abnormal_developmental_patter1.49046809
35MP0002086_abnormal_extraembryonic_tissu1.48643995
36MP0001661_extended_life_span1.45215607
37MP0004197_abnormal_fetal_growth/weight/1.37105216
38MP0001346_abnormal_lacrimal_gland1.34694314
39MP0000537_abnormal_urethra_morphology1.33062094
40MP0004264_abnormal_extraembryonic_tissu1.30703097
41MP0002019_abnormal_tumor_incidence1.28510758
42MP0004084_abnormal_cardiac_muscle1.28211087
43MP0000313_abnormal_cell_death1.27141346
44MP0010030_abnormal_orbit_morphology1.20136448
45MP0001119_abnormal_female_reproductive1.20072394
46MP0008789_abnormal_olfactory_epithelium1.20065173
47MP0006035_abnormal_mitochondrial_morpho1.18718557
48MP0002210_abnormal_sex_determination1.17388189
49MP0003221_abnormal_cardiomyocyte_apopto1.15173571
50MP0002234_abnormal_pharynx_morphology1.13861508
51MP0001727_abnormal_embryo_implantation1.08897465
52MP0003119_abnormal_digestive_system1.06383550
53MP0000653_abnormal_sex_gland1.06158986
54MP0000372_irregular_coat_pigmentation1.04756720
55MP0003937_abnormal_limbs/digits/tail_de1.04181866
56MP0002697_abnormal_eye_size1.02001302
57MP0001145_abnormal_male_reproductive1.00272097
58MP0003941_abnormal_skin_development0.99323390
59MP0001915_intracranial_hemorrhage0.98016268
60MP0001929_abnormal_gametogenesis0.96757122
61MP0003705_abnormal_hypodermis_morpholog0.96542648
62MP0009333_abnormal_splenocyte_physiolog0.95425386
63MP0005023_abnormal_wound_healing0.93655904
64MP0002160_abnormal_reproductive_system0.93474127
65MP0003698_abnormal_male_reproductive0.92746569
66MP0003566_abnormal_cell_adhesion0.92743309
67MP0005499_abnormal_olfactory_system0.92192349
68MP0005394_taste/olfaction_phenotype0.92192349
69MP0005397_hematopoietic_system_phenotyp0.88339664
70MP0001545_abnormal_hematopoietic_system0.88339664
71MP0005389_reproductive_system_phenotype0.88070198
72MP0010234_abnormal_vibrissa_follicle0.87858555
73MP0002653_abnormal_ependyma_morphology0.86978617
74MP0002161_abnormal_fertility/fecundity0.86949592
75MP0004782_abnormal_surfactant_physiolog0.85702186
76MP0003699_abnormal_female_reproductive0.85485630
77MP0003763_abnormal_thymus_physiology0.85382329
78MP0005384_cellular_phenotype0.85380335
79MP0005076_abnormal_cell_differentiation0.84801860
80MP0003890_abnormal_embryonic-extraembry0.84628853
81MP0009703_decreased_birth_body0.82301804
82MP0009053_abnormal_anal_canal0.82123928
83MP0002111_abnormal_tail_morphology0.81785244
84MP0000358_abnormal_cell_content/0.81454998
85MP0000703_abnormal_thymus_morphology0.80554016
86MP0002233_abnormal_nose_morphology0.79490857
87MP0002009_preneoplasia0.79105023
88MP0000428_abnormal_craniofacial_morphol0.78918766
89MP0005621_abnormal_cell_physiology0.78524025
90MP0001293_anophthalmia0.78072780
91MP0005187_abnormal_penis_morphology0.77207719
92MP0001286_abnormal_eye_development0.77184258
93MP0005501_abnormal_skin_physiology0.76766660
94MP0001881_abnormal_mammary_gland0.75885819
95MP0002877_abnormal_melanocyte_morpholog0.75743754
96MP0005395_other_phenotype0.75522664
97MP0009672_abnormal_birth_weight0.74745325
98MP0003806_abnormal_nucleotide_metabolis0.74298691
99MP0001919_abnormal_reproductive_system0.73272240
100MP0001529_abnormal_vocalization0.72607190
101MP0009697_abnormal_copulation0.72174288
102MP0002092_abnormal_eye_morphology0.69884974
103MP0000477_abnormal_intestine_morphology0.69092137
104MP0005330_cardiomyopathy0.68833244
105MP0003122_maternal_imprinting0.68367523
106MP0003936_abnormal_reproductive_system0.66632093
107MP0002932_abnormal_joint_morphology0.64984434
108MP0003942_abnormal_urinary_system0.64827767
109MP0000678_abnormal_parathyroid_gland0.64429020
110MP0001849_ear_inflammation0.63401510
111MP0002722_abnormal_immune_system0.63238854
112MP0003385_abnormal_body_wall0.62406335
113MP0000627_abnormal_mammary_gland0.62343920
114MP0004272_abnormal_basement_membrane0.61423280
115MP0002938_white_spotting0.61398680
116MP0003136_yellow_coat_color0.61227391
117MP0002127_abnormal_cardiovascular_syste0.60765206
118MP0003186_abnormal_redox_activity0.60316564
119MP0002398_abnormal_bone_marrow0.59471772
120MP0000751_myopathy0.59369769
121MP0002102_abnormal_ear_morphology0.59365665
122MP0003115_abnormal_respiratory_system0.59316328
123MP0002269_muscular_atrophy0.58539100
124MP0003943_abnormal_hepatobiliary_system0.58306940
125MP0004233_abnormal_muscle_weight0.57942289
126MP0000266_abnormal_heart_morphology0.57224602
127MP0002925_abnormal_cardiovascular_devel0.56967024
128MP0000689_abnormal_spleen_morphology0.56268706
129MP0002114_abnormal_axial_skeleton0.56118734
130MP0010630_abnormal_cardiac_muscle0.52987594
131MP0006036_abnormal_mitochondrial_physio0.51552350

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.35770286
2Breast hypoplasia (HP:0003187)3.98440356
3Colon cancer (HP:0003003)3.74177405
4Aplastic anemia (HP:0001915)3.53403488
5Selective tooth agenesis (HP:0001592)3.46199272
6Oral leukoplakia (HP:0002745)3.32866644
7Patellar aplasia (HP:0006443)3.29232264
8Abnormality of the anterior horn cell (HP:0006802)3.20919827
9Degeneration of anterior horn cells (HP:0002398)3.20919827
10Aplasia/Hypoplasia of the patella (HP:0006498)3.09232824
11Microvesicular hepatic steatosis (HP:0001414)3.01780186
12Chromsome breakage (HP:0040012)2.95734548
13Microretrognathia (HP:0000308)2.89998555
14Carpal bone hypoplasia (HP:0001498)2.87561207
15Volvulus (HP:0002580)2.85414012
16Medulloblastoma (HP:0002885)2.82700579
17Abnormality of chromosome stability (HP:0003220)2.79577606
18Reticulocytopenia (HP:0001896)2.75632097
19Rough bone trabeculation (HP:0100670)2.73030921
20Premature ovarian failure (HP:0008209)2.71183448
21Secondary amenorrhea (HP:0000869)2.65471250
22Meckel diverticulum (HP:0002245)2.64205569
23Rhabdomyosarcoma (HP:0002859)2.63731559
2411 pairs of ribs (HP:0000878)2.59565505
25Abnormality of alanine metabolism (HP:0010916)2.56450473
26Hyperalaninemia (HP:0003348)2.56450473
27Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.56450473
28Abnormality of glycolysis (HP:0004366)2.56443788
29Abnormality of cells of the erythroid lineage (HP:0012130)2.55032714
30Abnormal number of erythroid precursors (HP:0012131)2.54316316
31Ankle contracture (HP:0006466)2.53537243
32Abnormality of the preputium (HP:0100587)2.53191611
33Chromosomal breakage induced by crosslinking agents (HP:0003221)2.52584940
34Supernumerary spleens (HP:0009799)2.51168677
35Neoplasm of the pancreas (HP:0002894)2.50521052
36Absent radius (HP:0003974)2.48907838
37Increased serum pyruvate (HP:0003542)2.46697290
38Abnormality of the ileum (HP:0001549)2.46615357
39Myelodysplasia (HP:0002863)2.45430490
40Ependymoma (HP:0002888)2.45230860
41Duodenal stenosis (HP:0100867)2.41683845
42Small intestinal stenosis (HP:0012848)2.41683845
43Slender long bone (HP:0003100)2.38569561
44Abnormality of the calcaneus (HP:0008364)2.34771600
45Abnormal lung lobation (HP:0002101)2.34189578
46Type I transferrin isoform profile (HP:0003642)2.33690616
47Abnormal umbilical cord blood vessels (HP:0011403)2.32545716
48Single umbilical artery (HP:0001195)2.32545716
49Abnormality of the fetal cardiovascular system (HP:0010948)2.32545716
50Overlapping toe (HP:0001845)2.32083139
51Abnormality of the labia minora (HP:0012880)2.31162098
52Aplasia involving forearm bones (HP:0009822)2.31138728
53Absent forearm bone (HP:0003953)2.31138728
54Cerebral hypomyelination (HP:0006808)2.30885869
55Abnormality of the carotid arteries (HP:0005344)2.27848055
56Trismus (HP:0000211)2.26540951
57Male infertility (HP:0003251)2.24271167
58Triphalangeal thumb (HP:0001199)2.22546109
59Thrombocytosis (HP:0001894)2.21570365
60Neoplasm of the colon (HP:0100273)2.19766401
61Aplasia/Hypoplasia of the uvula (HP:0010293)2.18722430
62Missing ribs (HP:0000921)2.18057061
63Deviation of the thumb (HP:0009603)2.15993286
64Microglossia (HP:0000171)2.12906120
65Facial hemangioma (HP:0000329)2.12831565
66Shoulder girdle muscle weakness (HP:0003547)2.12744144
67Progressive external ophthalmoplegia (HP:0000590)2.09373143
68Proximal placement of thumb (HP:0009623)2.08565592
69Facial cleft (HP:0002006)2.07860443
70Premature graying of hair (HP:0002216)2.07063232
71Abnormality of the duodenum (HP:0002246)2.06651697
72Aplasia/Hypoplasia of the sternum (HP:0006714)2.06134159
73Sloping forehead (HP:0000340)2.05731571
74Abnormal trabecular bone morphology (HP:0100671)2.05451803
75Gout (HP:0001997)2.05185443
76Atresia of the external auditory canal (HP:0000413)2.05094314
77Absent thumb (HP:0009777)2.04072264
78High anterior hairline (HP:0009890)2.03633698
79Cellular immunodeficiency (HP:0005374)2.01838588
80Agnosia (HP:0010524)2.01577454
81Shawl scrotum (HP:0000049)2.00976299
82Impulsivity (HP:0100710)2.00584514
83Abnormality of cochlea (HP:0000375)1.99949544
84Cortical dysplasia (HP:0002539)1.99769060
85Gonadotropin excess (HP:0000837)1.98890811
86Choanal atresia (HP:0000453)1.97273574
87Protrusio acetabuli (HP:0003179)1.97213956
88Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.96350565
89Bone marrow hypocellularity (HP:0005528)1.96280937
90Abnormality of methionine metabolism (HP:0010901)1.95959712
91Duplication of thumb phalanx (HP:0009942)1.95847590
92Increased nuchal translucency (HP:0010880)1.95845181
93Multiple enchondromatosis (HP:0005701)1.95288995
94Ovarian neoplasm (HP:0100615)1.93775257
95Septate vagina (HP:0001153)1.93692140
96Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.90877713
97Abnormal protein N-linked glycosylation (HP:0012347)1.90877713
98Abnormal protein glycosylation (HP:0012346)1.90877713
99Abnormal glycosylation (HP:0012345)1.90877713
100Calcaneovalgus deformity (HP:0001848)1.90479528
101Nephroblastoma (Wilms tumor) (HP:0002667)1.90269981
102Deep philtrum (HP:0002002)1.89795749
103Embryonal renal neoplasm (HP:0011794)1.89775254
104Ragged-red muscle fibers (HP:0003200)1.88950146
105Basal cell carcinoma (HP:0002671)1.88400816
106Abnormality of the umbilical cord (HP:0010881)1.87585269
107Clubbing of toes (HP:0100760)1.87221357
108Megaloblastic anemia (HP:0001889)1.86951044
109Aplasia/hypoplasia of the humerus (HP:0006507)1.85998842
110Reduced antithrombin III activity (HP:0001976)1.85422029
111Testicular atrophy (HP:0000029)1.84091788
112Ectopic kidney (HP:0000086)1.84042663
113Entropion (HP:0000621)1.82905862
114Amaurosis fugax (HP:0100576)1.82725691
115Aplasia/Hypoplasia of the sacrum (HP:0008517)1.82185548
116Abnormalities of placenta or umbilical cord (HP:0001194)1.81314404
117Biliary tract neoplasm (HP:0100574)1.81297302
118Horseshoe kidney (HP:0000085)1.80988258
119Squamous cell carcinoma (HP:0002860)1.79352569
120Sparse lateral eyebrow (HP:0005338)1.79347019
121Muscle fiber atrophy (HP:0100295)1.77981561
122Abnormality of DNA repair (HP:0003254)1.76251958
123High pitched voice (HP:0001620)1.76035333
124Embryonal neoplasm (HP:0002898)1.75967953
125Progressive muscle weakness (HP:0003323)1.75929250
126Hepatic necrosis (HP:0002605)1.75639984
127Atrophy/Degeneration involving motor neurons (HP:0007373)1.74265559
128Bifid tongue (HP:0010297)1.74071491
129Abnormal biliary tract morphology (HP:0012440)1.73907098
130Neoplasm of the rectum (HP:0100743)1.73848547
131Cafe-au-lait spot (HP:0000957)1.72922178
132Short 4th metacarpal (HP:0010044)1.72893519
133Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.72893519
134Increased serum lactate (HP:0002151)1.72280073
135Duplicated collecting system (HP:0000081)1.72182254
136Macrocytic anemia (HP:0001972)1.71967379
137Unilateral renal agenesis (HP:0000122)1.71604628
138Breech presentation (HP:0001623)1.71351462
139Neoplasm of striated muscle (HP:0009728)1.71008588
140Deformed tarsal bones (HP:0008119)1.69298702
141Short thumb (HP:0009778)1.68339366
142Acute myeloid leukemia (HP:0004808)1.68103064
143Abnormal number of incisors (HP:0011064)1.67000871
144Hepatocellular necrosis (HP:0001404)1.66278598
145Arteriovenous malformation (HP:0100026)1.62778858
146Hypoplastic left heart (HP:0004383)1.62175093
147Poikiloderma (HP:0001029)1.61471481
148Abnormal mitochondria in muscle tissue (HP:0008316)1.58328692
149Increased CSF lactate (HP:0002490)1.56906569

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.43924470
2WEE14.30005493
3CDC74.06700963
4EIF2AK13.96991429
5PLK43.13539845
6PBK3.07244583
7TTK2.85513951
8VRK22.65292281
9PDK22.50651333
10NEK22.50033126
11ACVR1B2.48392722
12BRSK22.41702467
13NEK12.34322026
14PLK12.07575900
15RPS6KB21.94870481
16SRPK11.85571604
17EEF2K1.81737951
18PASK1.77484745
19EIF2AK31.77005029
20AURKB1.76010617
21TSSK61.75294617
22SCYL21.75278017
23MOS1.74722502
24EPHA21.73544402
25STK101.58997408
26MKNK11.57386397
27PLK31.55634857
28TRIM281.55175865
29VRK11.51794658
30MAP3K81.51010340
31RPS6KA41.45427106
32MAPKAPK31.43706968
33TESK21.40685278
34BRSK11.37948978
35CDK71.37929734
36TGFBR11.36260444
37ATR1.36107281
38STK161.33642683
39CHEK21.30435847
40PKN21.24767702
41NME21.23196360
42CDK81.22797352
43CCNB11.22022620
44AURKA1.21045777
45STK38L1.17477977
46SMG11.16014083
47DYRK31.14782745
48LATS21.14775033
49CDK41.11860056
50PAK41.09420944
51FLT31.08601831
52LATS11.07480403
53BMPR21.06621820
54BRAF1.02251376
55CHEK10.94933446
56TAF10.94896046
57BRD40.89340539
58CSNK1G30.89297157
59MKNK20.88776758
60LRRK20.88242804
61ZAK0.86811159
62STK30.85270272
63MELK0.81432460
64NUAK10.79168588
65CDK190.79117201
66TESK10.76505354
67CSNK1G10.76124505
68BCR0.75449528
69MET0.74530580
70STK40.73286454
71TAOK30.72342717
72ATM0.71650803
73NEK60.70659789
74CSNK1A1L0.68419612
75PAK10.67109735
76RAF10.66970344
77TLK10.65027138
78KDR0.63802574
79CDK20.62320477
80MST1R0.60411879
81ERBB30.60282997
82CDK11A0.53835943
83ERBB40.52982590
84CDK180.52030601
85CSNK2A10.51772463
86PRKCI0.50998974
87MAP2K30.49984590
88CDK150.49464806
89NME10.48413823
90EIF2AK20.47894500
91TRIB30.46820242
92CSNK1G20.46670873
93CDK10.45877135
94CDK140.45434199
95ILK0.45139174
96CSNK2A20.44985788
97STK240.43184804
98NEK90.42501280
99PDK30.40257074
100PDK40.40257074
101PIM10.39283520
102MAP3K30.38950585
103BCKDK0.38925185
104LIMK10.38613162
105MAPKAPK50.38378618
106DAPK10.37435578
107MST40.37028691
108CLK10.34974950
109PAK20.34107034
110MAP3K100.33558263
111ARAF0.33417704
112TTN0.32846915
113MAP3K60.31719570
114PRKD30.31555090
115AKT20.30845054
116CDK60.30164068
117ICK0.30043183
118JAK30.29044534
119ALK0.26275304
120PRKDC0.24262920
121CSNK1E0.22432106
122RPS6KA50.22337855
123CDK120.22200409
124MAP3K110.22106551
125PNCK0.21704139
126NLK0.21209169
127PIM20.20148701
128CDK90.19744129
129MTOR0.19456200

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.16460101
2Mismatch repair_Homo sapiens_hsa034304.29553798
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.42326727
4Cell cycle_Homo sapiens_hsa041103.34285847
5RNA transport_Homo sapiens_hsa030133.21010423
6Proteasome_Homo sapiens_hsa030503.15077762
7Base excision repair_Homo sapiens_hsa034103.10657196
8Homologous recombination_Homo sapiens_hsa034403.03807335
9Spliceosome_Homo sapiens_hsa030403.02263159
10Nucleotide excision repair_Homo sapiens_hsa034203.00717149
11RNA polymerase_Homo sapiens_hsa030202.79266789
12Ribosome_Homo sapiens_hsa030102.67218308
13RNA degradation_Homo sapiens_hsa030182.44131466
14Pyrimidine metabolism_Homo sapiens_hsa002402.41697721
15One carbon pool by folate_Homo sapiens_hsa006702.27168354
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.27160385
17Basal transcription factors_Homo sapiens_hsa030222.10575206
18Non-homologous end-joining_Homo sapiens_hsa034502.06892408
19Fanconi anemia pathway_Homo sapiens_hsa034602.04445703
20p53 signaling pathway_Homo sapiens_hsa041151.86755975
21Pyruvate metabolism_Homo sapiens_hsa006201.66927106
22mRNA surveillance pathway_Homo sapiens_hsa030151.58441153
23Fatty acid elongation_Homo sapiens_hsa000621.54306580
24Oocyte meiosis_Homo sapiens_hsa041141.49408147
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.39419914
26Purine metabolism_Homo sapiens_hsa002301.34921499
27Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.27698287
28Propanoate metabolism_Homo sapiens_hsa006401.26990992
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.26537606
30Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.18061814
31Epstein-Barr virus infection_Homo sapiens_hsa051691.10496843
32Protein export_Homo sapiens_hsa030601.09857423
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.07098263
34Folate biosynthesis_Homo sapiens_hsa007901.02366003
35Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.02047130
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.00768857
37Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.98831621
38Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.97071768
39Thyroid cancer_Homo sapiens_hsa052160.94579537
40Viral carcinogenesis_Homo sapiens_hsa052030.93801240
41Antigen processing and presentation_Homo sapiens_hsa046120.92864319
42Steroid biosynthesis_Homo sapiens_hsa001000.90314429
43Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.90111681
44Cysteine and methionine metabolism_Homo sapiens_hsa002700.89388495
45HTLV-I infection_Homo sapiens_hsa051660.85726169
46Oxidative phosphorylation_Homo sapiens_hsa001900.84976106
47Systemic lupus erythematosus_Homo sapiens_hsa053220.83703599
48Biosynthesis of amino acids_Homo sapiens_hsa012300.82032607
49Small cell lung cancer_Homo sapiens_hsa052220.80726074
50Herpes simplex infection_Homo sapiens_hsa051680.80439797
51Pentose phosphate pathway_Homo sapiens_hsa000300.79181703
52TGF-beta signaling pathway_Homo sapiens_hsa043500.74526883
53Lysine degradation_Homo sapiens_hsa003100.72032775
54MicroRNAs in cancer_Homo sapiens_hsa052060.71987362
55Hippo signaling pathway_Homo sapiens_hsa043900.70019100
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.68671217
57Vitamin B6 metabolism_Homo sapiens_hsa007500.68409453
58Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.67075742
59N-Glycan biosynthesis_Homo sapiens_hsa005100.65118818
60Selenocompound metabolism_Homo sapiens_hsa004500.64437545
61Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.61706379
62Arginine and proline metabolism_Homo sapiens_hsa003300.60739699
63Fatty acid metabolism_Homo sapiens_hsa012120.59060407
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.57087585
65Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.56686282
66Drug metabolism - other enzymes_Homo sapiens_hsa009830.55104756
67Legionellosis_Homo sapiens_hsa051340.53271674
68Carbon metabolism_Homo sapiens_hsa012000.53189596
69Huntingtons disease_Homo sapiens_hsa050160.49436525
70Colorectal cancer_Homo sapiens_hsa052100.47731611
71Shigellosis_Homo sapiens_hsa051310.47245178
72Glutathione metabolism_Homo sapiens_hsa004800.45704012
73Transcriptional misregulation in cancer_Homo sapiens_hsa052020.45449348
74Alzheimers disease_Homo sapiens_hsa050100.43867956
75Adherens junction_Homo sapiens_hsa045200.42996919
76Bladder cancer_Homo sapiens_hsa052190.42386760
77Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.42072854
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40683254
79Apoptosis_Homo sapiens_hsa042100.38005253
80Arginine biosynthesis_Homo sapiens_hsa002200.36208334
812-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.36188031
82Hepatitis B_Homo sapiens_hsa051610.36161850
83Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.35100674
84Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.32474716
85Galactose metabolism_Homo sapiens_hsa000520.31974894
86Cyanoamino acid metabolism_Homo sapiens_hsa004600.31685739
87Circadian rhythm_Homo sapiens_hsa047100.30775073
88Pathways in cancer_Homo sapiens_hsa052000.30657201
89Sulfur metabolism_Homo sapiens_hsa009200.30457284
90Fructose and mannose metabolism_Homo sapiens_hsa000510.29547757
91Central carbon metabolism in cancer_Homo sapiens_hsa052300.29354980
92Tight junction_Homo sapiens_hsa045300.28484627
93HIF-1 signaling pathway_Homo sapiens_hsa040660.28161346
94Pancreatic cancer_Homo sapiens_hsa052120.27239087
95Basal cell carcinoma_Homo sapiens_hsa052170.27177472
96Chronic myeloid leukemia_Homo sapiens_hsa052200.26570826
97Alcoholism_Homo sapiens_hsa050340.26511975
98Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.25179900
99Hedgehog signaling pathway_Homo sapiens_hsa043400.24355562
100Parkinsons disease_Homo sapiens_hsa050120.24180010
101Ovarian steroidogenesis_Homo sapiens_hsa049130.23469290
102Phenylalanine metabolism_Homo sapiens_hsa003600.22282404
103Butanoate metabolism_Homo sapiens_hsa006500.21454460
104Leukocyte transendothelial migration_Homo sapiens_hsa046700.21291728
105Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.19792566
106Peroxisome_Homo sapiens_hsa041460.18531584
107Vitamin digestion and absorption_Homo sapiens_hsa049770.17032405
108FoxO signaling pathway_Homo sapiens_hsa040680.16791250
109Glucagon signaling pathway_Homo sapiens_hsa049220.16376199
110Wnt signaling pathway_Homo sapiens_hsa043100.14515272
111Arachidonic acid metabolism_Homo sapiens_hsa005900.14185829
112Focal adhesion_Homo sapiens_hsa045100.14104174
113Prostate cancer_Homo sapiens_hsa052150.14060311
114Sulfur relay system_Homo sapiens_hsa041220.13902039
115Fatty acid degradation_Homo sapiens_hsa000710.13737216
116Renin-angiotensin system_Homo sapiens_hsa046140.13582648
117Proteoglycans in cancer_Homo sapiens_hsa052050.13580136
118mTOR signaling pathway_Homo sapiens_hsa041500.13564674
119Viral myocarditis_Homo sapiens_hsa054160.13216434
120Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.12681619
121Metabolic pathways_Homo sapiens_hsa011000.12317987
122beta-Alanine metabolism_Homo sapiens_hsa004100.12241003
123Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.12081134
124Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.11789160
125AMPK signaling pathway_Homo sapiens_hsa041520.10717503
126PI3K-Akt signaling pathway_Homo sapiens_hsa041510.10178796
127Influenza A_Homo sapiens_hsa051640.10146595
128Pentose and glucuronate interconversions_Homo sapiens_hsa000400.09441637
129Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.09147590
130Measles_Homo sapiens_hsa051620.08625453
131Notch signaling pathway_Homo sapiens_hsa043300.08147208

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