BLM

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: The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.22269952
2nuclear pore organization (GO:0006999)5.10370426
3nuclear pore complex assembly (GO:0051292)5.04722417
4kinetochore organization (GO:0051383)4.92912877
5protein localization to kinetochore (GO:0034501)4.91661055
6DNA replication initiation (GO:0006270)4.89345706
7DNA strand elongation involved in DNA replication (GO:0006271)4.61120499
8telomere maintenance via semi-conservative replication (GO:0032201)4.52711216
9DNA strand elongation (GO:0022616)4.40779616
10DNA replication checkpoint (GO:0000076)4.40447758
11DNA ligation (GO:0006266)4.37220525
12mitotic metaphase plate congression (GO:0007080)4.35017487
13kinetochore assembly (GO:0051382)4.33727537
14protein localization to chromosome, centromeric region (GO:0071459)4.31052631
15establishment of integrated proviral latency (GO:0075713)4.30808261
16chromatin remodeling at centromere (GO:0031055)4.21028509
17mitotic nuclear envelope disassembly (GO:0007077)4.20720659
18mitotic sister chromatid segregation (GO:0000070)4.19697230
19telomere maintenance via recombination (GO:0000722)4.19187843
20mitotic recombination (GO:0006312)4.19089500
21CENP-A containing nucleosome assembly (GO:0034080)4.14801714
22metaphase plate congression (GO:0051310)4.12779232
23sister chromatid segregation (GO:0000819)4.11367205
24DNA replication-dependent nucleosome organization (GO:0034723)4.06907112
25DNA replication-dependent nucleosome assembly (GO:0006335)4.06907112
26double-strand break repair via nonhomologous end joining (GO:0006303)4.06283853
27non-recombinational repair (GO:0000726)4.06283853
28mitotic chromosome condensation (GO:0007076)4.03543337
29meiotic chromosome segregation (GO:0045132)3.91427656
30pore complex assembly (GO:0046931)3.89755527
31telomere maintenance via telomere lengthening (GO:0010833)3.89698420
32purine nucleobase biosynthetic process (GO:0009113)3.89307804
33regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.89119008
34nuclear envelope disassembly (GO:0051081)3.88055710
35membrane disassembly (GO:0030397)3.88055710
36DNA replication-independent nucleosome organization (GO:0034724)3.85490523
37DNA replication-independent nucleosome assembly (GO:0006336)3.85490523
38attachment of spindle microtubules to kinetochore (GO:0008608)3.84104819
39mitotic sister chromatid cohesion (GO:0007064)3.77367969
40nucleotide-excision repair, DNA gap filling (GO:0006297)3.74193583
41regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.71884098
42regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.70361852
43* DNA duplex unwinding (GO:0032508)3.68266188
44* DNA geometric change (GO:0032392)3.67743512
45establishment of chromosome localization (GO:0051303)3.66588135
46histone exchange (GO:0043486)3.65914766
47regulation of histone H3-K9 methylation (GO:0051570)3.59143069
48folic acid-containing compound biosynthetic process (GO:0009396)3.58897654
49IMP biosynthetic process (GO:0006188)3.58451038
50regulation of sister chromatid cohesion (GO:0007063)3.53640271
51* negative regulation of DNA-dependent DNA replication (GO:2000104)3.51935886
52regulation of helicase activity (GO:0051095)3.50496871
53regulation of centrosome cycle (GO:0046605)3.50446653
54positive regulation of chromosome segregation (GO:0051984)3.49332499
55somatic diversification of immune receptors via somatic mutation (GO:0002566)3.48678250
56somatic hypermutation of immunoglobulin genes (GO:0016446)3.48678250
57protein localization to chromosome (GO:0034502)3.44115120
58regulation of chromosome segregation (GO:0051983)3.41506865
59chromatin assembly or disassembly (GO:0006333)3.40917407
60spindle checkpoint (GO:0031577)3.40411554
61negative regulation of chromosome segregation (GO:0051985)3.39273362
62* maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.35607748
63spindle assembly checkpoint (GO:0071173)3.35337441
64DNA topological change (GO:0006265)3.35031731
65translesion synthesis (GO:0019985)3.34853121
66regulation of mitotic metaphase/anaphase transition (GO:0030071)3.33453725
67negative regulation of mitotic sister chromatid separation (GO:2000816)3.33381479
68negative regulation of mitotic sister chromatid segregation (GO:0033048)3.33381479
69negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.33381479
70negative regulation of sister chromatid segregation (GO:0033046)3.33381479
71regulation of mitotic spindle checkpoint (GO:1903504)3.32132178
72regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.32132178
73regulation of spindle organization (GO:0090224)3.32048615
74regulation of nuclear cell cycle DNA replication (GO:0033262)3.32011512
75chromosome segregation (GO:0007059)3.29839957
76mismatch repair (GO:0006298)3.27978019
77* replication fork processing (GO:0031297)3.27803604
78ribosome assembly (GO:0042255)3.26877401
79regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.26761599
80* DNA double-strand break processing (GO:0000729)3.25824174
81negative regulation of mitosis (GO:0045839)3.25755469
82protein K6-linked ubiquitination (GO:0085020)3.25717449
83regulation of centriole replication (GO:0046599)3.24783117
84negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.24723205
85mitotic spindle assembly checkpoint (GO:0007094)3.24146760
86mitotic spindle checkpoint (GO:0071174)3.22315691
87* telomere maintenance (GO:0000723)3.22043956
88* DNA conformation change (GO:0071103)3.21482693
89establishment of viral latency (GO:0019043)3.21399251
90regulation of DNA endoreduplication (GO:0032875)3.21376116
91nucleobase biosynthetic process (GO:0046112)3.20672764
92regulation of sister chromatid segregation (GO:0033045)3.19750958
93regulation of mitotic sister chromatid separation (GO:0010965)3.19750958
94regulation of mitotic sister chromatid segregation (GO:0033047)3.19750958
95* telomere organization (GO:0032200)3.19681508
96mitotic cell cycle (GO:0000278)3.18450293
97regulation of centrosome duplication (GO:0010824)3.17896164
98ATP-dependent chromatin remodeling (GO:0043044)3.17385812
99regulation of double-strand break repair via homologous recombination (GO:0010569)3.16732320
100intra-S DNA damage checkpoint (GO:0031573)3.16049793
101positive regulation of mitotic sister chromatid separation (GO:1901970)3.15740194
102positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.15740194
103positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.15740194
104regulation of double-strand break repair (GO:2000779)3.12333633
105anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.11662482
106microtubule depolymerization (GO:0007019)3.11555489
107postreplication repair (GO:0006301)3.10289380
108DNA synthesis involved in DNA repair (GO:0000731)3.10200134
109regulation of telomere maintenance via telomerase (GO:0032210)3.09174040
110IMP metabolic process (GO:0046040)3.06392749
111dosage compensation (GO:0007549)3.05604531
112negative regulation of histone methylation (GO:0031061)3.04456549
113chromosome condensation (GO:0030261)3.03997591
114chromatin assembly (GO:0031497)3.03772354
115regulation of mitotic spindle organization (GO:0060236)3.03566491
116heterochromatin organization (GO:0070828)3.02751387
117pre-miRNA processing (GO:0031054)2.98445758

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human5.78137004
2* E2F4_17652178_ChIP-ChIP_JURKAT_Human4.74433661
3* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.78814265
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.65922670
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.83211172
6MYC_19079543_ChIP-ChIP_MESCs_Mouse2.75438367
7* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.57940891
8E2F1_21310950_ChIP-Seq_MCF-7_Human2.51926705
9* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.51261050
10AR_21909140_ChIP-Seq_LNCAP_Human2.43241284
11EGR1_19374776_ChIP-ChIP_THP-1_Human2.36459151
12MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.30301903
13* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.25544811
14KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.24406411
15NELFA_20434984_ChIP-Seq_ESCs_Mouse2.21073295
16MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.19491501
17EST1_17652178_ChIP-ChIP_JURKAT_Human2.14344938
18E2F7_22180533_ChIP-Seq_HELA_Human11.7396938
19MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.96744083
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.95472546
21XRN2_22483619_ChIP-Seq_HELA_Human1.92032749
22SALL1_21062744_ChIP-ChIP_HESCs_Human1.88472571
23MYCN_18555785_ChIP-Seq_MESCs_Mouse1.86166303
24ETS1_20019798_ChIP-Seq_JURKAT_Human1.84986383
25VDR_23849224_ChIP-Seq_CD4+_Human1.80221073
26TP63_19390658_ChIP-ChIP_HaCaT_Human1.79912963
27GABP_17652178_ChIP-ChIP_JURKAT_Human1.76837681
28CREB1_15753290_ChIP-ChIP_HEK293T_Human1.74337678
29SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.70766582
30JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.69937784
31POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.69622753
32NANOG_18555785_ChIP-Seq_MESCs_Mouse1.68801930
33FOXP3_21729870_ChIP-Seq_TREG_Human1.66601171
34ELF1_17652178_ChIP-ChIP_JURKAT_Human1.64182674
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63562962
36HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.62322519
37HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.61801256
38YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.60621283
39E2F1_18555785_ChIP-Seq_MESCs_Mouse1.60317796
40TTF2_22483619_ChIP-Seq_HELA_Human1.58819927
41MYC_22102868_ChIP-Seq_BL_Human1.57127084
42CIITA_25753668_ChIP-Seq_RAJI_Human1.49771526
43ELK1_19687146_ChIP-ChIP_HELA_Human1.46276002
44SOX2_18555785_ChIP-Seq_MESCs_Mouse1.44988147
45SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.41030223
46KDM5A_27292631_Chip-Seq_BREAST_Human1.40148801
47E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.38015473
48GABP_19822575_ChIP-Seq_HepG2_Human1.37700067
49DCP1A_22483619_ChIP-Seq_HELA_Human1.35563330
50* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.33546741
51POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.33422888
52THAP11_20581084_ChIP-Seq_MESCs_Mouse1.32020810
53FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.30713577
54EWS_26573619_Chip-Seq_HEK293_Human1.29993944
55* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.29631440
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.25191538
57SRF_21415370_ChIP-Seq_HL-1_Mouse1.24970279
58POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.24198410
59* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.23445332
60ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.20208976
61ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.18101374
62HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.18099893
63POU5F1_16153702_ChIP-ChIP_HESCs_Human1.17977386
64PADI4_21655091_ChIP-ChIP_MCF-7_Human1.16014497
65NANOG_16153702_ChIP-ChIP_HESCs_Human1.15019211
66KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.14386006
67KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.14386006
68KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.14386006
69SOX2_16153702_ChIP-ChIP_HESCs_Human1.13313636
70STAT3_1855785_ChIP-Seq_MESCs_Mouse1.10670554
71RBPJ_22232070_ChIP-Seq_NCS_Mouse1.10447936
72ESR1_15608294_ChIP-ChIP_MCF-7_Human1.10401559
73PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.09566257
74KLF4_18555785_ChIP-Seq_MESCs_Mouse1.08779358
75SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.06591017
76* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.06270156
77NANOG_21062744_ChIP-ChIP_HESCs_Human1.05932446
78ERG_20887958_ChIP-Seq_HPC-7_Mouse1.03689851
79TFEB_21752829_ChIP-Seq_HELA_Human1.02891131
80FUS_26573619_Chip-Seq_HEK293_Human1.02058930
81KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.01678335
82* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.99829766
83NOTCH1_21737748_ChIP-Seq_TLL_Human0.98967883
84MYC_18940864_ChIP-ChIP_HL60_Human0.97969446
85FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.97277938
86DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.94280984
87IRF1_19129219_ChIP-ChIP_H3396_Human0.92228922
88CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.91693427
89NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.91681026
90TCF3_18692474_ChIP-Seq_MEFs_Mouse0.91237352
91TCF3_18692474_ChIP-Seq_MESCs_Mouse0.91138590
92ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.89425015
93SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.89423449
94YY1_21170310_ChIP-Seq_MESCs_Mouse0.88626443
95SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.88512906
96CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.88332629
97SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.87582312
98CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.86558514
99NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.85811269
100GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.81799607
101SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.80256648
102VDR_21846776_ChIP-Seq_THP-1_Human0.78160635
103* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.77472994
104KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.77216857
105NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.76994337
106CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.76809675
107HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.76636941
108PKCTHETA_26484144_Chip-Seq_BREAST_Human0.76076974
109SOX17_20123909_ChIP-Seq_XEN_Mouse0.75522475
110NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.75061248
111PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.74755573
112CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.73777696
113BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.73146955
114ZNF274_21170338_ChIP-Seq_K562_Hela0.70879188
115DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.65682407
116HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.60632856
117FLI1_27457419_Chip-Seq_LIVER_Mouse0.57165267
118CHD1_26751641_Chip-Seq_LNCaP_Human0.56666415

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0010094_abnormal_chromosome_stability4.93872285
2MP0003111_abnormal_nucleus_morphology4.70159233
3MP0003693_abnormal_embryo_hatching4.54711520
4MP0008057_abnormal_DNA_replication4.24094583
5MP0003077_abnormal_cell_cycle3.90062685
6MP0004957_abnormal_blastocyst_morpholog3.89366981
7MP0008058_abnormal_DNA_repair3.47316536
8MP0002396_abnormal_hematopoietic_system2.86104079
9MP0003123_paternal_imprinting2.73424267
10MP0008932_abnormal_embryonic_tissue2.61262568
11MP0008877_abnormal_DNA_methylation2.56195307
12MP0008007_abnormal_cellular_replicative2.38831013
13MP0010352_gastrointestinal_tract_polyps2.27893436
14MP0010307_abnormal_tumor_latency2.26134119
15MP0000350_abnormal_cell_proliferation2.24556242
16MP0001730_embryonic_growth_arrest2.16446215
17MP0003121_genomic_imprinting2.14004523
18* MP0005380_embryogenesis_phenotype1.85987796
19* MP0001672_abnormal_embryogenesis/_devel1.85987796
20MP0000490_abnormal_crypts_of1.81897917
21MP0003786_premature_aging1.78555873
22* MP0001697_abnormal_embryo_size1.72453235
23MP0002085_abnormal_embryonic_tissue1.69823803
24* MP0003984_embryonic_growth_retardation1.65520457
25MP0002084_abnormal_developmental_patter1.64241907
26* MP0002088_abnormal_embryonic_growth/wei1.62806880
27MP0002086_abnormal_extraembryonic_tissu1.58453924
28MP0004197_abnormal_fetal_growth/weight/1.55859753
29MP0003890_abnormal_embryonic-extraembry1.55549022
30MP0004808_abnormal_hematopoietic_stem1.53477329
31MP0003567_abnormal_fetal_cardiomyocyte1.50503976
32MP0000566_synostosis1.50429853
33MP0005076_abnormal_cell_differentiation1.49843380
34* MP0002080_prenatal_lethality1.49078911
35MP0001293_anophthalmia1.41928989
36* MP0000313_abnormal_cell_death1.41482503
37* MP0002019_abnormal_tumor_incidence1.34640881
38MP0005075_abnormal_melanosome_morpholog1.31943968
39MP0006035_abnormal_mitochondrial_morpho1.30271157
40MP0002210_abnormal_sex_determination1.27931878
41MP0002009_preneoplasia1.24924412
42MP0003806_abnormal_nucleotide_metabolis1.20207894
43MP0006292_abnormal_olfactory_placode1.20142016
44MP0003718_maternal_effect1.15431005
45MP0003763_abnormal_thymus_physiology1.14920439
46MP0001145_abnormal_male_reproductive1.11947038
47MP0000703_abnormal_thymus_morphology1.11625130
48MP0005397_hematopoietic_system_phenotyp1.11080442
49MP0001545_abnormal_hematopoietic_system1.11080442
50MP0000537_abnormal_urethra_morphology1.10501501
51MP0003941_abnormal_skin_development1.10009542
52MP0003787_abnormal_imprinting1.09863975
53MP0003937_abnormal_limbs/digits/tail_de1.09260169
54MP0001929_abnormal_gametogenesis1.04478879
55MP0010030_abnormal_orbit_morphology1.03129913
56MP0006072_abnormal_retinal_apoptosis1.02947710
57MP0001188_hyperpigmentation1.02310958
58MP0001915_intracranial_hemorrhage0.99076102
59MP0002102_abnormal_ear_morphology0.97805581
60MP0000653_abnormal_sex_gland0.96938336
61* MP0002398_abnormal_bone_marrow0.94313717
62MP0000372_irregular_coat_pigmentation0.92608266
63MP0002722_abnormal_immune_system0.92061961
64MP0009672_abnormal_birth_weight0.88318536
65MP0004264_abnormal_extraembryonic_tissu0.87810975
66MP0000428_abnormal_craniofacial_morphol0.87625122
67MP0003119_abnormal_digestive_system0.87229596
68MP0009703_decreased_birth_body0.87145123
69MP0009053_abnormal_anal_canal0.86920696
70MP0001119_abnormal_female_reproductive0.86466273
71MP0000689_abnormal_spleen_morphology0.86126245
72MP0004147_increased_porphyrin_level0.85148766
73MP0009278_abnormal_bone_marrow0.84135337
74MP0006036_abnormal_mitochondrial_physio0.82730829
75MP0003315_abnormal_perineum_morphology0.82400259
76MP0001529_abnormal_vocalization0.80145477
77MP0002111_abnormal_tail_morphology0.79091382
78MP0001286_abnormal_eye_development0.78810887
79MP0002938_white_spotting0.78606627
80* MP0000358_abnormal_cell_content/0.78604441
81MP0002092_abnormal_eye_morphology0.78481562
82MP0009333_abnormal_splenocyte_physiolog0.78039169
83MP0002653_abnormal_ependyma_morphology0.77615837
84MP0002233_abnormal_nose_morphology0.77582603
85MP0002075_abnormal_coat/hair_pigmentati0.77282142
86MP0000432_abnormal_head_morphology0.76564020
87MP0004133_heterotaxia0.75482467
88MP0002132_abnormal_respiratory_system0.74349588
89MP0002697_abnormal_eye_size0.73617702
90MP0005174_abnormal_tail_pigmentation0.72492958
91MP0001346_abnormal_lacrimal_gland0.71915587
92MP0008789_abnormal_olfactory_epithelium0.70715509
93* MP0005384_cellular_phenotype0.69747878
94MP0005621_abnormal_cell_physiology0.69274251
95MP0003136_yellow_coat_color0.69071625
96MP0002160_abnormal_reproductive_system0.68474786
97MP0002877_abnormal_melanocyte_morpholog0.68088132
98MP0001661_extended_life_span0.67422541
99MP0008995_early_reproductive_senescence0.66568552
100MP0005395_other_phenotype0.65725804
101MP0000371_diluted_coat_color0.65553542
102MP0003935_abnormal_craniofacial_develop0.65334103
103* MP0002429_abnormal_blood_cell0.65237083
104MP0002751_abnormal_autonomic_nervous0.64953705
105MP0002925_abnormal_cardiovascular_devel0.63876027
106MP0003699_abnormal_female_reproductive0.63786366
107MP0003115_abnormal_respiratory_system0.63534144
108MP0001177_atelectasis0.63243307
109MP0002095_abnormal_skin_pigmentation0.62756461
110MP0003943_abnormal_hepatobiliary_system0.62409085
111MP0003861_abnormal_nervous_system0.61707494
112MP0003122_maternal_imprinting0.61356638
113MP0009697_abnormal_copulation0.60964648
114MP0002163_abnormal_gland_morphology0.60854763
115MP0000647_abnormal_sebaceous_gland0.60656683
116MP0000477_abnormal_intestine_morphology0.59872460
117MP0008770_decreased_survivor_rate0.59576734
118MP0001186_pigmentation_phenotype0.59433959
119MP0002161_abnormal_fertility/fecundity0.59419868
120MP0003755_abnormal_palate_morphology0.58280139
121MP0005391_vision/eye_phenotype0.56733874
122MP0003186_abnormal_redox_activity0.56424208
123MP0003698_abnormal_male_reproductive0.56005028
124MP0002234_abnormal_pharynx_morphology0.55668678
125MP0005389_reproductive_system_phenotype0.55082194
126MP0001727_abnormal_embryo_implantation0.50526151
127MP0000579_abnormal_nail_morphology0.50334684

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)5.44161912
2Chromosomal breakage induced by crosslinking agents (HP:0003221)5.28484769
3Birth length less than 3rd percentile (HP:0003561)4.05446459
4* Abnormality of chromosome stability (HP:0003220)3.99974753
5Abnormality of the preputium (HP:0100587)3.86598007
6Meckel diverticulum (HP:0002245)3.77337798
7Aplasia/Hypoplasia of the uvula (HP:0010293)3.68205811
8Abnormality of the ileum (HP:0001549)3.63557637
9Medulloblastoma (HP:0002885)3.60083546
10Ependymoma (HP:0002888)3.59862511
11Supernumerary spleens (HP:0009799)3.43896926
12Volvulus (HP:0002580)3.33391148
13Reticulocytopenia (HP:0001896)3.27107066
14Oral leukoplakia (HP:0002745)3.26838329
15Ectopic kidney (HP:0000086)3.19806817
16Absent radius (HP:0003974)3.16207910
17Rhabdomyosarcoma (HP:0002859)3.13582132
18Duodenal stenosis (HP:0100867)3.12633710
19Small intestinal stenosis (HP:0012848)3.12633710
20Duplicated collecting system (HP:0000081)3.09426424
21Impulsivity (HP:0100710)3.09218137
22Myelodysplasia (HP:0002863)3.06596554
23Abnormality of the labia minora (HP:0012880)3.04803213
24Colon cancer (HP:0003003)2.98718015
25Absent forearm bone (HP:0003953)2.96807172
26Aplasia involving forearm bones (HP:0009822)2.96807172
27Patellar aplasia (HP:0006443)2.92949077
28Agnosia (HP:0010524)2.91210548
29Increased nuchal translucency (HP:0010880)2.83104174
30Abnormality of the renal collecting system (HP:0004742)2.73905659
31Bone marrow hypocellularity (HP:0005528)2.70475066
32Aplasia/Hypoplasia of the patella (HP:0006498)2.69525570
33Breast hypoplasia (HP:0003187)2.68186180
34Abnormal lung lobation (HP:0002101)2.66506865
35Absent thumb (HP:0009777)2.63846545
36Nephroblastoma (Wilms tumor) (HP:0002667)2.63570493
37Abnormality of the astrocytes (HP:0100707)2.63024291
38Astrocytoma (HP:0009592)2.63024291
39Cortical dysplasia (HP:0002539)2.60236668
40Abnormality of the duodenum (HP:0002246)2.59228095
41Abnormality of the carotid arteries (HP:0005344)2.57267814
42Glioma (HP:0009733)2.56618045
43Proximal placement of thumb (HP:0009623)2.55041751
44Sloping forehead (HP:0000340)2.50543403
45Deviation of the thumb (HP:0009603)2.46297823
46Embryonal renal neoplasm (HP:0011794)2.46259127
47Aplastic anemia (HP:0001915)2.45032000
48Neoplasm of striated muscle (HP:0009728)2.42977848
49Clubbing of toes (HP:0100760)2.42561705
50Neoplasm of the oral cavity (HP:0100649)2.41528784
5111 pairs of ribs (HP:0000878)2.35365213
52Premature graying of hair (HP:0002216)2.34433494
53Tracheoesophageal fistula (HP:0002575)2.27147009
54* Cafe-au-lait spot (HP:0000957)2.26162322
55Facial hemangioma (HP:0000329)2.25498576
56Triphalangeal thumb (HP:0001199)2.24809776
57Basal cell carcinoma (HP:0002671)2.22211569
58Abnormality of DNA repair (HP:0003254)2.22021393
59Abnormality of cochlea (HP:0000375)2.20568610
60Aplasia/Hypoplasia of the sacrum (HP:0008517)2.20376051
61Microvesicular hepatic steatosis (HP:0001414)2.17831854
62Neoplasm of the pancreas (HP:0002894)2.17062893
63Degeneration of anterior horn cells (HP:0002398)2.16183226
64Abnormality of the anterior horn cell (HP:0006802)2.16183226
65Short thumb (HP:0009778)2.14225371
66Horseshoe kidney (HP:0000085)2.14128118
67Choanal atresia (HP:0000453)2.11421563
68Multiple enchondromatosis (HP:0005701)2.11238618
69Embryonal neoplasm (HP:0002898)2.10384887
70* Selective tooth agenesis (HP:0001592)2.08872850
71Atresia of the external auditory canal (HP:0000413)2.07772185
72Arteriovenous malformation (HP:0100026)2.07336989
73* Prominent nose (HP:0000448)2.06868959
74Acute myeloid leukemia (HP:0004808)2.05508463
75Rough bone trabeculation (HP:0100670)2.05405302
76Short 4th metacarpal (HP:0010044)2.05124137
77Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.05124137
78Missing ribs (HP:0000921)2.00829915
79Carpal bone hypoplasia (HP:0001498)2.00472824
80Abnormality of the fingertips (HP:0001211)2.00371968
81Combined immunodeficiency (HP:0005387)2.00046326
82Urethral obstruction (HP:0000796)1.96228409
83Aplasia/Hypoplasia of the sternum (HP:0006714)1.95811485
84Amaurosis fugax (HP:0100576)1.95684773
85Pancytopenia (HP:0001876)1.94558279
86* Lymphoma (HP:0002665)1.93626270
87Abnormality of cells of the erythroid lineage (HP:0012130)1.91996315
88Duplication of thumb phalanx (HP:0009942)1.91922398
89Abnormal number of erythroid precursors (HP:0012131)1.89983040
90Ovarian neoplasm (HP:0100615)1.89470654
91Increased hepatocellular lipid droplets (HP:0006565)1.89469451
92Abnormality of methionine metabolism (HP:0010901)1.88976549
93Rib fusion (HP:0000902)1.88647117
94* Abnormal number of incisors (HP:0011064)1.88028801
95Pancreatic islet-cell hyperplasia (HP:0004510)1.86084694
96Abnormality of pyrimidine metabolism (HP:0004353)1.85464469
97Abnormality of abdominal situs (HP:0011620)1.85410066
98Abdominal situs inversus (HP:0003363)1.85410066
99Cellular immunodeficiency (HP:0005374)1.85393242
100Hypoplasia of the pons (HP:0012110)1.82771858
101Biliary tract neoplasm (HP:0100574)1.80816679
102Neoplasm of the adrenal cortex (HP:0100641)1.80792341
103Malignant gastrointestinal tract tumors (HP:0006749)1.80762447
104Gastrointestinal carcinoma (HP:0002672)1.80762447
105Long eyelashes (HP:0000527)1.80119619
106Ureteral duplication (HP:0000073)1.78859097
107Acute lymphatic leukemia (HP:0006721)1.78253762
108Deep philtrum (HP:0002002)1.77720968
109Supernumerary bones of the axial skeleton (HP:0009144)1.77650818
110Abnormality of the pons (HP:0007361)1.77630383
111Asplenia (HP:0001746)1.76991486
112Neoplasm of the colon (HP:0100273)1.76810511
113Prostate neoplasm (HP:0100787)1.76640721
114Abnormality of chromosome segregation (HP:0002916)1.75992626
115Abnormality of the heme biosynthetic pathway (HP:0010472)1.75733746
116Supernumerary ribs (HP:0005815)1.74369683
117Hypochromic microcytic anemia (HP:0004840)1.73197238
118* Squamous cell carcinoma (HP:0002860)1.72500430
119Aplasia/Hypoplasia of the earlobes (HP:0009906)1.70428644
120B lymphocytopenia (HP:0010976)1.68476792
121Lipid accumulation in hepatocytes (HP:0006561)1.67999120
122Abnormality of homocysteine metabolism (HP:0010919)1.66986240
123Homocystinuria (HP:0002156)1.66986240
124Irregular epiphyses (HP:0010582)1.64215325
125Neoplasm of the small intestine (HP:0100833)1.63150945
126Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.62206275
127Morphological abnormality of the inner ear (HP:0011390)1.62033225
128Progressive external ophthalmoplegia (HP:0000590)1.61155665
129Overlapping toe (HP:0001845)1.60128986
130Abnormality of the septum pellucidum (HP:0007375)1.58728667
131Septo-optic dysplasia (HP:0100842)1.58183450
132Abnormality of serum amino acid levels (HP:0003112)1.57186504
133Pallor (HP:0000980)1.55921450
134Neoplasm of the adrenal gland (HP:0100631)1.54482861
135Breast carcinoma (HP:0003002)1.54148312
136Small hand (HP:0200055)1.53900419
137Facial cleft (HP:0002006)1.53557004
138Methylmalonic acidemia (HP:0002912)1.52609476

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.29692779
2WEE13.85207487
3NEK23.41084944
4CDK123.00034880
5BUB12.90752245
6SRPK12.89035582
7* TTK2.69085560
8STK32.59723475
9EIF2AK12.58215933
10VRK22.35938221
11PLK12.22257554
12MKNK12.18801184
13* ATR2.15570898
14PLK42.14261476
15MKNK22.12090326
16ACVR1B1.85840869
17CDK71.82730546
18ZAK1.82287965
19CHEK21.80561295
20AURKB1.79231842
21CDK41.77472032
22TLK11.76438583
23CLK11.73090899
24NEK11.71145023
25TAF11.69991735
26PLK31.66066791
27STK41.63158155
28STK101.59394937
29PASK1.59179102
30BRSK21.57287771
31BRD41.55821053
32RPS6KB21.51808271
33* CHEK11.48968451
34VRK11.47820507
35EEF2K1.41993366
36MST41.38944095
37TSSK61.38495078
38DYRK31.32027480
39MAP3K81.30903785
40* ATM1.27675802
41BMPR1B1.26742528
42LATS11.26728164
43TNIK1.20213478
44CDK61.19132717
45EIF2AK31.15749208
46PIM11.15044226
47MAP3K101.13677744
48TRIM281.11246940
49CDK21.07719875
50WNK31.05646652
51AURKA1.03309387
52MELK1.02169880
53MAP3K61.00730013
54NME10.97475141
55STK240.96454834
56ALK0.91964288
57BRSK10.89315588
58PKN20.88605793
59FLT30.88077914
60* CDK10.86140094
61EIF2AK20.84782936
62CDK80.84029540
63EPHA20.77845560
64STK38L0.76361741
65NME20.75847204
66TGFBR10.73840427
67PAK40.73219081
68SMG10.67847421
69PNCK0.65666479
70CDK30.63381364
71STK160.61722480
72CSNK2A20.61110246
73PLK20.59962296
74LATS20.59827669
75CCNB10.57852822
76RPS6KA40.57468728
77MTOR0.57263726
78CSNK2A10.56149813
79YES10.55567475
80PDK20.54961169
81CSNK1D0.54170655
82MAPK140.51868059
83CDK90.51385668
84RPS6KA50.48642017
85PRKDC0.47420555
86TESK20.47071719
87AKT30.45760883
88FGFR10.44806505
89SCYL20.44730044
90AKT10.41160139
91TEC0.39741863
92MAP4K10.39563264
93ERBB40.38524413
94CSNK1E0.38341170
95BCR0.37156213
96PAK10.35835223
97* GSK3B0.32117001
98PRKCI0.31899743
99AKT20.30757065
100MAPK10.30714590
101NUAK10.30546545
102MATK0.30489315
103PBK0.30475124
104JAK30.28293163
105CSNK1G30.26868806
106FRK0.26716700
107MAPKAPK50.26645810
108BRAF0.26631978
109MAP2K30.26358882
110CHUK0.25497365
111RPS6KB10.25352432
112DYRK20.24580887
113BTK0.23424832
114CDK180.21102900
115ERBB30.20397550
116NLK0.20306909
117MARK30.20218305
118DAPK10.19922423
119FGFR20.19651046
120CDK150.19078253
121STK390.19013412
122CAMK1G0.18763408
123CDK11A0.17430160
124GRK60.16507288
125MAPK100.16395117
126CSNK1G10.15846411
127MAP3K50.15537575
128CSNK1A1L0.15000173

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.25252381
2Mismatch repair_Homo sapiens_hsa034304.67077045
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.48783503
4Cell cycle_Homo sapiens_hsa041103.40668542
5* Homologous recombination_Homo sapiens_hsa034403.37952601
6Spliceosome_Homo sapiens_hsa030403.27501174
7Base excision repair_Homo sapiens_hsa034103.25850715
8RNA transport_Homo sapiens_hsa030133.09707677
9* Fanconi anemia pathway_Homo sapiens_hsa034603.01822570
10One carbon pool by folate_Homo sapiens_hsa006702.99301929
11Nucleotide excision repair_Homo sapiens_hsa034202.84679175
12Non-homologous end-joining_Homo sapiens_hsa034502.58777954
13RNA polymerase_Homo sapiens_hsa030202.37830649
14RNA degradation_Homo sapiens_hsa030182.17777622
15mRNA surveillance pathway_Homo sapiens_hsa030152.17174494
16Pyrimidine metabolism_Homo sapiens_hsa002402.09991793
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.06311810
18Ribosome_Homo sapiens_hsa030101.93981362
19p53 signaling pathway_Homo sapiens_hsa041151.88155723
20Basal transcription factors_Homo sapiens_hsa030221.86062162
21Systemic lupus erythematosus_Homo sapiens_hsa053221.74110993
22Protein export_Homo sapiens_hsa030601.48796708
23Proteasome_Homo sapiens_hsa030501.43555617
24Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.33846520
25Viral carcinogenesis_Homo sapiens_hsa052031.28973548
26Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.16523941
27Oocyte meiosis_Homo sapiens_hsa041141.16444410
28Herpes simplex infection_Homo sapiens_hsa051681.16106607
29Propanoate metabolism_Homo sapiens_hsa006401.14941667
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.11403775
31Epstein-Barr virus infection_Homo sapiens_hsa051691.11326427
32Pyruvate metabolism_Homo sapiens_hsa006201.07769346
33Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.07584174
34Purine metabolism_Homo sapiens_hsa002301.06298602
35Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.06058701
36MicroRNAs in cancer_Homo sapiens_hsa052061.04177305
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99098631
38HTLV-I infection_Homo sapiens_hsa051660.94921511
39Transcriptional misregulation in cancer_Homo sapiens_hsa052020.91879282
40Small cell lung cancer_Homo sapiens_hsa052220.90776299
41Steroid biosynthesis_Homo sapiens_hsa001000.88468803
42Selenocompound metabolism_Homo sapiens_hsa004500.87728711
43Parkinsons disease_Homo sapiens_hsa050120.86885231
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.83077686
45Antigen processing and presentation_Homo sapiens_hsa046120.82587781
46Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.81405301
47Huntingtons disease_Homo sapiens_hsa050160.78353316
48Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.77886992
49Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77774682
50Carbon metabolism_Homo sapiens_hsa012000.76977225
51Basal cell carcinoma_Homo sapiens_hsa052170.76673249
52Colorectal cancer_Homo sapiens_hsa052100.76565732
53Hippo signaling pathway_Homo sapiens_hsa043900.74289823
54Oxidative phosphorylation_Homo sapiens_hsa001900.74014017
55Alcoholism_Homo sapiens_hsa050340.69701145
56TGF-beta signaling pathway_Homo sapiens_hsa043500.69144894
57Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.68579447
58Lysine degradation_Homo sapiens_hsa003100.64038948
59Notch signaling pathway_Homo sapiens_hsa043300.62013263
60Hepatitis B_Homo sapiens_hsa051610.60972919
61Thyroid cancer_Homo sapiens_hsa052160.60831978
62Cysteine and methionine metabolism_Homo sapiens_hsa002700.60239428
63NF-kappa B signaling pathway_Homo sapiens_hsa040640.60051881
64Apoptosis_Homo sapiens_hsa042100.56258414
65Fatty acid elongation_Homo sapiens_hsa000620.55322440
66Measles_Homo sapiens_hsa051620.52663936
67Hematopoietic cell lineage_Homo sapiens_hsa046400.52500515
68Chronic myeloid leukemia_Homo sapiens_hsa052200.50330013
69Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.48506439
70Prostate cancer_Homo sapiens_hsa052150.45842294
71Pathways in cancer_Homo sapiens_hsa052000.45435473
72Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.45209748
73Adherens junction_Homo sapiens_hsa045200.45107126
74Vitamin B6 metabolism_Homo sapiens_hsa007500.44177681
75Primary immunodeficiency_Homo sapiens_hsa053400.43842818
76Biosynthesis of amino acids_Homo sapiens_hsa012300.41988397
77Legionellosis_Homo sapiens_hsa051340.39476454
78Metabolic pathways_Homo sapiens_hsa011000.38246930
79Hedgehog signaling pathway_Homo sapiens_hsa043400.37661073
80Drug metabolism - other enzymes_Homo sapiens_hsa009830.37130538
81Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36833616
82NOD-like receptor signaling pathway_Homo sapiens_hsa046210.36317019
83Sulfur relay system_Homo sapiens_hsa041220.35983640
84Viral myocarditis_Homo sapiens_hsa054160.34480892
85Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.34277147
86Wnt signaling pathway_Homo sapiens_hsa043100.34175540
87Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.32711835
88Influenza A_Homo sapiens_hsa051640.32656064
89Intestinal immune network for IgA production_Homo sapiens_hsa046720.31858148
90Bladder cancer_Homo sapiens_hsa052190.31550272
91Pentose phosphate pathway_Homo sapiens_hsa000300.31137213
92Alzheimers disease_Homo sapiens_hsa050100.29973208
93Non-small cell lung cancer_Homo sapiens_hsa052230.29304283
94HIF-1 signaling pathway_Homo sapiens_hsa040660.28623274
95Cyanoamino acid metabolism_Homo sapiens_hsa004600.28579910
96Central carbon metabolism in cancer_Homo sapiens_hsa052300.28368553
97Acute myeloid leukemia_Homo sapiens_hsa052210.27993403
98Fatty acid metabolism_Homo sapiens_hsa012120.27541404
99FoxO signaling pathway_Homo sapiens_hsa040680.26909020
100Pancreatic cancer_Homo sapiens_hsa052120.26447563
101Folate biosynthesis_Homo sapiens_hsa007900.25958244
102Endometrial cancer_Homo sapiens_hsa052130.22490355
103Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.20554346
104Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.20497737
105Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.20421627
106RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.20190106
107Asthma_Homo sapiens_hsa053100.20005833
108Melanoma_Homo sapiens_hsa052180.19250820
109PI3K-Akt signaling pathway_Homo sapiens_hsa041510.19189881
110Jak-STAT signaling pathway_Homo sapiens_hsa046300.18914355
111mTOR signaling pathway_Homo sapiens_hsa041500.18552484
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.17259384
113Thyroid hormone signaling pathway_Homo sapiens_hsa049190.16297773
114Glutathione metabolism_Homo sapiens_hsa004800.14914346
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.14387066
116Butanoate metabolism_Homo sapiens_hsa006500.13220037
117N-Glycan biosynthesis_Homo sapiens_hsa005100.12348040
118Proteoglycans in cancer_Homo sapiens_hsa052050.11937350
119Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.11045878
120Nitrogen metabolism_Homo sapiens_hsa009100.10385221
121Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.10070899
122Toxoplasmosis_Homo sapiens_hsa051450.09801776
123Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.09221385
124Phototransduction_Homo sapiens_hsa047440.08752031
125Shigellosis_Homo sapiens_hsa051310.08416015
126Vitamin digestion and absorption_Homo sapiens_hsa049770.08073401
127Caffeine metabolism_Homo sapiens_hsa002320.07845535
128Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.07384704
129Pentose and glucuronate interconversions_Homo sapiens_hsa000400.03739695
130Peroxisome_Homo sapiens_hsa041460.02744316
131Olfactory transduction_Homo sapiens_hsa047400.00476165
132Arginine and proline metabolism_Homo sapiens_hsa00330-0.0100452

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