C1QBP

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 human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)5.43458137
2maturation of SSU-rRNA (GO:0030490)4.93793437
3DNA strand elongation involved in DNA replication (GO:0006271)4.85127678
4nucleobase biosynthetic process (GO:0046112)4.79887025
5formation of translation preinitiation complex (GO:0001731)4.78635305
6ribosomal small subunit assembly (GO:0000028)4.77354725
7DNA replication initiation (GO:0006270)4.72164533
8purine nucleobase biosynthetic process (GO:0009113)4.61501750
9DNA strand elongation (GO:0022616)4.59704820
10viral transcription (GO:0019083)4.57504137
11translational termination (GO:0006415)4.53741318
12telomere maintenance via semi-conservative replication (GO:0032201)4.51165128
13folic acid-containing compound biosynthetic process (GO:0009396)4.36073689
14DNA unwinding involved in DNA replication (GO:0006268)4.33998129
15ribosome biogenesis (GO:0042254)4.33002753
16ribosomal large subunit biogenesis (GO:0042273)4.25593257
17ribonucleoprotein complex biogenesis (GO:0022613)4.22573075
18ribosomal small subunit biogenesis (GO:0042274)4.22044825
19translational elongation (GO:0006414)4.20956992
20translational initiation (GO:0006413)4.19307101
21DNA replication checkpoint (GO:0000076)4.17304445
22nucleobase-containing small molecule interconversion (GO:0015949)4.10971454
23folic acid metabolic process (GO:0046655)4.10167003
24nuclear pore complex assembly (GO:0051292)3.97623356
25proteasome assembly (GO:0043248)3.95282110
26telomere maintenance via recombination (GO:0000722)3.89023862
27regulation of translational fidelity (GO:0006450)3.83684984
28nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.82136824
29pseudouridine synthesis (GO:0001522)3.81925382
30IMP biosynthetic process (GO:0006188)3.81410624
31establishment of viral latency (GO:0019043)3.80754573
32rRNA processing (GO:0006364)3.80388372
33SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.77723765
34mitotic chromosome condensation (GO:0007076)3.73506125
35regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.72668608
36mitotic metaphase plate congression (GO:0007080)3.72651880
37nuclear pore organization (GO:0006999)3.71428296
38spliceosomal snRNP assembly (GO:0000387)3.71317329
39protein localization to kinetochore (GO:0034501)3.71261481
40rRNA metabolic process (GO:0016072)3.67740138
41mitotic nuclear envelope disassembly (GO:0007077)3.67415760
42protein targeting to ER (GO:0045047)3.66726678
43cotranslational protein targeting to membrane (GO:0006613)3.66695557
44peptidyl-arginine omega-N-methylation (GO:0035247)3.64347093
45viral mRNA export from host cell nucleus (GO:0046784)3.63843301
46* ribosome assembly (GO:0042255)3.60857508
47telomere maintenance via telomere lengthening (GO:0010833)3.60722886
48mitotic recombination (GO:0006312)3.59986748
49cellular protein complex disassembly (GO:0043624)3.55404860
50DNA replication-dependent nucleosome assembly (GO:0006335)3.54655279
51DNA replication-dependent nucleosome organization (GO:0034723)3.54655279
52mitotic sister chromatid segregation (GO:0000070)3.51741921
53viral life cycle (GO:0019058)3.49121187
54protein localization to endoplasmic reticulum (GO:0070972)3.48568891
55establishment of protein localization to endoplasmic reticulum (GO:0072599)3.47781909
56IMP metabolic process (GO:0046040)3.43067052
57rRNA modification (GO:0000154)3.41619431
58translation (GO:0006412)3.40514780
59negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.39975800
60pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.38578364
61nuclear envelope disassembly (GO:0051081)3.37611399
62membrane disassembly (GO:0030397)3.37611399
63CENP-A containing nucleosome assembly (GO:0034080)3.37514447
64chromatin remodeling at centromere (GO:0031055)3.36081778
65anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.35560582
66pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.34834766
67mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.34286161
68transcription from mitochondrial promoter (GO:0006390)3.33270679
69protein maturation by protein folding (GO:0022417)3.32920125
70histone arginine methylation (GO:0034969)3.31202744
71proline biosynthetic process (GO:0006561)3.30933406
72oxidative phosphorylation (GO:0006119)3.29759155
73regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.29713888
74* negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.28130420
75positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.27726479
76nucleotide-excision repair, DNA gap filling (GO:0006297)3.26289207
77protein localization to chromosome, centromeric region (GO:0071459)3.23696399
78cellular component biogenesis (GO:0044085)3.22561167
79deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.21030544
80protein complex disassembly (GO:0043241)3.18874372
81pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.18273839
82DNA replication-independent nucleosome assembly (GO:0006336)3.17692423
83DNA replication-independent nucleosome organization (GO:0034724)3.17692423
84mitochondrial RNA metabolic process (GO:0000959)3.17659909
85sister chromatid segregation (GO:0000819)3.17536896
86protein targeting to mitochondrion (GO:0006626)3.13449674
87heterochromatin organization (GO:0070828)3.12450541
88negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.10971270
89negative regulation of ligase activity (GO:0051352)3.10971270
90protein complex localization (GO:0031503)3.10409397
91cell cycle G1/S phase transition (GO:0044843)3.10127126
92G1/S transition of mitotic cell cycle (GO:0000082)3.10127126
93rRNA transcription (GO:0009303)3.09584701
94pore complex assembly (GO:0046931)3.09415038
95deoxyribonucleotide biosynthetic process (GO:0009263)3.09179626
96maturation of 5.8S rRNA (GO:0000460)3.09026002
97guanosine-containing compound biosynthetic process (GO:1901070)3.08592420
98metaphase plate congression (GO:0051310)3.08130972
99pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.07225269
100pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)3.07044508
101transcription elongation from RNA polymerase III promoter (GO:0006385)3.06366004
102termination of RNA polymerase III transcription (GO:0006386)3.06366004
103tRNA aminoacylation for protein translation (GO:0006418)3.06107062
104transcription-coupled nucleotide-excision repair (GO:0006283)3.04622409
105nuclear-transcribed mRNA catabolic process (GO:0000956)3.04586361
106pteridine-containing compound biosynthetic process (GO:0042559)3.04175918
107regulation of translational termination (GO:0006449)3.04073022
108macromolecular complex disassembly (GO:0032984)3.03218986
109tRNA aminoacylation (GO:0043039)3.00286394
110amino acid activation (GO:0043038)3.00286394
111pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.98989906
112spliceosomal complex assembly (GO:0000245)2.97998050
113termination of RNA polymerase II transcription (GO:0006369)2.96655945
114establishment of integrated proviral latency (GO:0075713)2.96139994
115peptidyl-arginine methylation (GO:0018216)2.96032571
116peptidyl-arginine N-methylation (GO:0035246)2.96032571
117UTP biosynthetic process (GO:0006228)2.94461281
118positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.91355089
119DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.88829869
120mRNA catabolic process (GO:0006402)2.87697632
121RNA catabolic process (GO:0006401)2.87658007
122regulation of nuclear cell cycle DNA replication (GO:0033262)2.87639925
123L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.87590381
124regulation of spindle organization (GO:0090224)2.87541718
125signal transduction involved in DNA integrity checkpoint (GO:0072401)2.86038688
126signal transduction involved in DNA damage checkpoint (GO:0072422)2.86038688
127intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.85311406
128signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.85311406
129signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.85240000
130signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.85240000
131signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.85240000
132ncRNA processing (GO:0034470)2.84120040
133glycine metabolic process (GO:0006544)2.83496608
134regulation of cellular amino acid metabolic process (GO:0006521)2.82534300
135establishment of protein localization to mitochondrial membrane (GO:0090151)2.81612952
136signal transduction involved in cell cycle checkpoint (GO:0072395)2.80256470
137histone exchange (GO:0043486)2.80210259
138RNA splicing, via transesterification reactions (GO:0000375)2.80122000

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.28217198
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.63868546
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.26056371
4MYC_19079543_ChIP-ChIP_MESCs_Mouse3.21055711
5* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.08613244
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.08408178
7FOXM1_23109430_ChIP-Seq_U2OS_Human3.05758049
8E2F4_17652178_ChIP-ChIP_JURKAT_Human3.05703401
9ETS1_20019798_ChIP-Seq_JURKAT_Human2.99716665
10* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.98280531
11* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.93246730
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.90031127
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.87403175
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.75582298
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.65209376
16XRN2_22483619_ChIP-Seq_HELA_Human2.43581804
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.33350577
18NELFA_20434984_ChIP-Seq_ESCs_Mouse2.32785186
19NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.23616665
20* VDR_23849224_ChIP-Seq_CD4+_Human2.17830960
21* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.13559560
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.13317771
23DCP1A_22483619_ChIP-Seq_HELA_Human2.06950289
24AR_21909140_ChIP-Seq_LNCAP_Human2.03026598
25* GABP_19822575_ChIP-Seq_HepG2_Human1.94909665
26FOXP3_21729870_ChIP-Seq_TREG_Human1.90829439
27E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.88955038
28MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.88337910
29MYCN_18555785_ChIP-Seq_MESCs_Mouse1.87903490
30THAP11_20581084_ChIP-Seq_MESCs_Mouse1.83809979
31TTF2_22483619_ChIP-Seq_HELA_Human1.82904381
32NANOG_18555785_ChIP-Seq_MESCs_Mouse1.82275064
33ELF1_17652178_ChIP-ChIP_JURKAT_Human1.81418878
34POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.80445224
35HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.75361633
36E2F1_21310950_ChIP-Seq_MCF-7_Human1.75170333
37MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.70437877
38SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.70245921
39* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.69330003
40SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.67837580
41YY1_21170310_ChIP-Seq_MESCs_Mouse1.65731048
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.65651282
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.64790630
44MYC_22102868_ChIP-Seq_BL_Human1.62835058
45STAT3_1855785_ChIP-Seq_MESCs_Mouse1.52697304
46CIITA_25753668_ChIP-Seq_RAJI_Human1.52461154
47CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.50075514
48POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.46569261
49EGR1_19374776_ChIP-ChIP_THP-1_Human1.45183995
50KDM5A_27292631_Chip-Seq_BREAST_Human1.45075965
51FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.44658074
52ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.42959181
53SRF_21415370_ChIP-Seq_HL-1_Mouse1.42445886
54YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.38327670
55ELK1_19687146_ChIP-ChIP_HELA_Human1.35234087
56* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.32374976
57SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.27469103
58HOXB4_20404135_ChIP-ChIP_EML_Mouse1.26832055
59* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.26068224
60POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.25837574
61CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.25766877
62SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.25450132
63DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.21055019
64FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.20431551
65ERG_20887958_ChIP-Seq_HPC-7_Mouse1.19505055
66ZNF263_19887448_ChIP-Seq_K562_Human1.18484001
67TFEB_21752829_ChIP-Seq_HELA_Human1.14158364
68NOTCH1_21737748_ChIP-Seq_TLL_Human1.12624947
69* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.11279347
70ESR1_15608294_ChIP-ChIP_MCF-7_Human1.10188142
71* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.09649318
72KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.09003928
73PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.07686362
74SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.07650082
75MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.06756320
76TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.04837916
77* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.04561994
78BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03933130
79KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.03546357
80VDR_21846776_ChIP-Seq_THP-1_Human1.03395044
81CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.02906179
82ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.01062761
83CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.98061920
84PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.97986132
85ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.96907663
86* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.96409123
87PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.95953657
88SOX2_18555785_ChIP-Seq_MESCs_Mouse0.94884580
89ELK1_22589737_ChIP-Seq_MCF10A_Human0.94611384
90OCT4_18692474_ChIP-Seq_MEFs_Mouse0.94463514
91CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.93836570
92PADI4_21655091_ChIP-ChIP_MCF-7_Human0.92876140
93TCF3_18692474_ChIP-Seq_MEFs_Mouse0.92384103
94CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.92249163
95TET1_21451524_ChIP-Seq_MESCs_Mouse0.91485025
96TBX5_21415370_ChIP-Seq_HL-1_Mouse0.90621403
97CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.90494405
98SOX2_18692474_ChIP-Seq_MEFs_Mouse0.89644987
99MYC_18940864_ChIP-ChIP_HL60_Human0.89582960
100ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.89576962
101TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.88682363
102* FOXP1_21924763_ChIP-Seq_HESCs_Human0.88541034
103* CTCF_18555785_ChIP-Seq_MESCs_Mouse0.88361492
104NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.88042047
105DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.87108233
106HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.85757506
107CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.85752229
108CHD1_26751641_Chip-Seq_LNCaP_Human0.85403359
109CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.85134994
110GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.84621576
111SRY_22984422_ChIP-ChIP_TESTIS_Rat0.84254029
112SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.82337560
113SPI1_23547873_ChIP-Seq_NB4_Human0.80244944
114TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.78793509

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.86519664
2MP0004957_abnormal_blastocyst_morpholog4.86048027
3MP0003111_abnormal_nucleus_morphology4.60471535
4MP0010094_abnormal_chromosome_stability4.35339770
5MP0003077_abnormal_cell_cycle3.93004119
6MP0008057_abnormal_DNA_replication3.60165815
7MP0003806_abnormal_nucleotide_metabolis3.17357091
8MP0008058_abnormal_DNA_repair3.02712949
9MP0008932_abnormal_embryonic_tissue2.68807471
10MP0008007_abnormal_cellular_replicative2.61602104
11MP0002396_abnormal_hematopoietic_system2.53653168
12MP0001730_embryonic_growth_arrest2.49350389
13MP0002877_abnormal_melanocyte_morpholog2.31776219
14MP0003123_paternal_imprinting2.29926912
15MP0010352_gastrointestinal_tract_polyps2.26384475
16MP0000350_abnormal_cell_proliferation2.22655176
17MP0003718_maternal_effect2.02018187
18MP0003786_premature_aging2.00410595
19MP0009697_abnormal_copulation1.90987461
20MP0000490_abnormal_crypts_of1.90772432
21MP0005451_abnormal_body_composition1.82441500
22MP0001672_abnormal_embryogenesis/_devel1.77731243
23MP0005380_embryogenesis_phenotype1.77731243
24MP0001697_abnormal_embryo_size1.75549414
25MP0002080_prenatal_lethality1.73797965
26MP0004233_abnormal_muscle_weight1.71454194
27MP0003567_abnormal_fetal_cardiomyocyte1.68720078
28MP0010307_abnormal_tumor_latency1.68700003
29MP0003186_abnormal_redox_activity1.62891408
30MP0003984_embryonic_growth_retardation1.62861384
31MP0002088_abnormal_embryonic_growth/wei1.58716538
32MP0009333_abnormal_splenocyte_physiolog1.55744947
33MP0006036_abnormal_mitochondrial_physio1.54635335
34MP0009840_abnormal_foam_cell1.53352421
35MP0004185_abnormal_adipocyte_glucose1.52553752
36MP0001545_abnormal_hematopoietic_system1.50485092
37MP0005397_hematopoietic_system_phenotyp1.50485092
38MP0000313_abnormal_cell_death1.48939734
39MP0002019_abnormal_tumor_incidence1.45830030
40MP0002085_abnormal_embryonic_tissue1.43044747
41MP0001346_abnormal_lacrimal_gland1.42093448
42MP0002086_abnormal_extraembryonic_tissu1.41136003
43MP0003221_abnormal_cardiomyocyte_apopto1.39605624
44MP0006035_abnormal_mitochondrial_morpho1.37732579
45MP0000358_abnormal_cell_content/1.37026703
46MP0002163_abnormal_gland_morphology1.35153571
47MP0004197_abnormal_fetal_growth/weight/1.32163211
48MP0002084_abnormal_developmental_patter1.29680939
49MP0005623_abnormal_meninges_morphology1.25223119
50MP0001661_extended_life_span1.24428591
51MP0004808_abnormal_hematopoietic_stem1.21910647
52MP0003656_abnormal_erythrocyte_physiolo1.13248975
53MP0000750_abnormal_muscle_regeneration1.11446548
54MP0010234_abnormal_vibrissa_follicle1.08764479
55MP0001881_abnormal_mammary_gland1.04422410
56MP0008877_abnormal_DNA_methylation1.03994210
57MP0002796_impaired_skin_barrier1.03857282
58MP0000678_abnormal_parathyroid_gland1.02768288
59MP0002132_abnormal_respiratory_system0.98607219
60MP0002210_abnormal_sex_determination0.96586893
61MP0002722_abnormal_immune_system0.95701883
62MP0006054_spinal_hemorrhage0.95316944
63MP0001293_anophthalmia0.94575513
64MP0001145_abnormal_male_reproductive0.94063576
65MP0000703_abnormal_thymus_morphology0.92517473
66MP0002234_abnormal_pharynx_morphology0.92499612
67MP0006292_abnormal_olfactory_placode0.92024220
68MP0005266_abnormal_metabolism0.90987763
69MP0001853_heart_inflammation0.89801928
70MP0003646_muscle_fatigue0.89529767
71MP0000689_abnormal_spleen_morphology0.89139630
72MP0010030_abnormal_orbit_morphology0.88484675
73MP0003315_abnormal_perineum_morphology0.87908642
74MP0002697_abnormal_eye_size0.87064587
75MP0002269_muscular_atrophy0.85451803
76MP0005384_cellular_phenotype0.83473560
77MP0002398_abnormal_bone_marrow0.82749740
78MP0002160_abnormal_reproductive_system0.82479316
79MP0000537_abnormal_urethra_morphology0.82170955
80MP0000858_altered_metastatic_potential0.80579196
81MP0004147_increased_porphyrin_level0.79615713
82MP0009672_abnormal_birth_weight0.78842039
83MP0003763_abnormal_thymus_physiology0.77781785
84MP0003705_abnormal_hypodermis_morpholog0.76142911
85MP0009379_abnormal_foot_pigmentation0.75439812
86MP0003119_abnormal_digestive_system0.75328573
87MP0000653_abnormal_sex_gland0.75026969
88MP0000627_abnormal_mammary_gland0.74166044
89MP0005076_abnormal_cell_differentiation0.74157264
90MP0005621_abnormal_cell_physiology0.73197150
91MP0005023_abnormal_wound_healing0.73095774
92MP0002653_abnormal_ependyma_morphology0.72923336
93MP0002429_abnormal_blood_cell0.71927405
94MP0004084_abnormal_cardiac_muscle0.71128474
95MP0005330_cardiomyopathy0.70596512
96MP0004858_abnormal_nervous_system0.69592461
97MP0001929_abnormal_gametogenesis0.69382651
98MP0000477_abnormal_intestine_morphology0.69334270
99MP0003385_abnormal_body_wall0.69162011
100MP0005075_abnormal_melanosome_morpholog0.68806960
101MP0003941_abnormal_skin_development0.68168477
102MP0003937_abnormal_limbs/digits/tail_de0.67520875
103MP0005389_reproductive_system_phenotype0.67409684
104MP0000003_abnormal_adipose_tissue0.66376646
105MP0000598_abnormal_liver_morphology0.65655386
106MP0009053_abnormal_anal_canal0.65592113
107MP0002111_abnormal_tail_morphology0.64618429
108MP0002092_abnormal_eye_morphology0.62738424
109MP0000747_muscle_weakness0.61652954
110MP0001764_abnormal_homeostasis0.61423694
111MP0002009_preneoplasia0.61059866
112MP0005501_abnormal_skin_physiology0.60900525
113MP0000762_abnormal_tongue_morphology0.59484671
114MP0004133_heterotaxia0.58896818
115MP0003566_abnormal_cell_adhesion0.58811693
116MP0003890_abnormal_embryonic-extraembry0.58261355
117MP0005319_abnormal_enzyme/_coenzyme0.58130711
118MP0001529_abnormal_vocalization0.57784663
119MP0001915_intracranial_hemorrhage0.56954594
120MP0008770_decreased_survivor_rate0.56107927
121MP0005379_endocrine/exocrine_gland_phen0.54708838
122MP0009278_abnormal_bone_marrow0.54136757
123MP0008789_abnormal_olfactory_epithelium0.54033816
124MP0001727_abnormal_embryo_implantation0.53978780
125MP0001119_abnormal_female_reproductive0.53585644
126MP0003699_abnormal_female_reproductive0.52697480
127MP0005187_abnormal_penis_morphology0.51895946
128MP0001849_ear_inflammation0.51637487
129MP0005666_abnormal_adipose_tissue0.51444133
130MP0000759_abnormal_skeletal_muscle0.50413722
131MP0005395_other_phenotype0.49332959
132MP0002161_abnormal_fertility/fecundity0.49215064
133MP0008260_abnormal_autophagy0.48719458

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)5.69934740
2Abnormal number of erythroid precursors (HP:0012131)5.47289104
3Birth length less than 3rd percentile (HP:0003561)5.15766282
4Reticulocytopenia (HP:0001896)4.72851661
5Breast hypoplasia (HP:0003187)4.36181213
6Oral leukoplakia (HP:0002745)4.21564004
7Macrocytic anemia (HP:0001972)3.77568768
8Multiple enchondromatosis (HP:0005701)3.61807892
9Rough bone trabeculation (HP:0100670)3.56739528
10Aplastic anemia (HP:0001915)3.50159215
11Pallor (HP:0000980)3.36868067
12Abnormal mitochondria in muscle tissue (HP:0008316)3.36066480
13Cerebral hypomyelination (HP:0006808)3.34622812
14Carpal bone hypoplasia (HP:0001498)3.33370766
15Selective tooth agenesis (HP:0001592)3.32321662
16Microretrognathia (HP:0000308)3.25599773
17Colon cancer (HP:0003003)3.08712814
18Progressive muscle weakness (HP:0003323)3.08533927
19Increased intramyocellular lipid droplets (HP:0012240)3.05970753
20Acute necrotizing encephalopathy (HP:0006965)2.99251117
21Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.96320610
22Decreased activity of mitochondrial respiratory chain (HP:0008972)2.96320610
23Degeneration of anterior horn cells (HP:0002398)2.94312987
24Abnormality of the anterior horn cell (HP:0006802)2.94312987
25Acute encephalopathy (HP:0006846)2.92761058
26Trismus (HP:0000211)2.91348743
27Patellar aplasia (HP:0006443)2.87716774
28Ependymoma (HP:0002888)2.85469185
29Aplasia/Hypoplasia of the patella (HP:0006498)2.76389138
30Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.73441961
31Abnormality of alanine metabolism (HP:0010916)2.73441961
32Hyperalaninemia (HP:0003348)2.73441961
33Increased muscle lipid content (HP:0009058)2.70046758
34Absent thumb (HP:0009777)2.66744416
35Premature ovarian failure (HP:0008209)2.62945591
36Increased serum lactate (HP:0002151)2.58995112
37Megaloblastic anemia (HP:0001889)2.57198204
38Exercise intolerance (HP:0003546)2.56872354
39Progressive external ophthalmoplegia (HP:0000590)2.53696322
40Neoplasm of the pancreas (HP:0002894)2.52079361
41Testicular atrophy (HP:0000029)2.51798688
42Premature graying of hair (HP:0002216)2.50443725
43Cerebral edema (HP:0002181)2.48213633
44Abnormal trabecular bone morphology (HP:0100671)2.47506714
45Abnormality of the heme biosynthetic pathway (HP:0010472)2.45549317
46Abnormality of the preputium (HP:0100587)2.43056552
47Reduced antithrombin III activity (HP:0001976)2.42971828
48Abnormality of reticulocytes (HP:0004312)2.41552589
49Chromsome breakage (HP:0040012)2.40690644
50Secondary amenorrhea (HP:0000869)2.40173426
51Meckel diverticulum (HP:0002245)2.38454107
52Absent radius (HP:0003974)2.38299575
53Medulloblastoma (HP:0002885)2.37429830
54Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.32003024
55Proximal placement of thumb (HP:0009623)2.28912819
56Abnormality of the ileum (HP:0001549)2.28387279
57Chromosomal breakage induced by crosslinking agents (HP:0003221)2.26695252
58Sparse eyelashes (HP:0000653)2.26283992
59Abnormality of the fetal cardiovascular system (HP:0010948)2.23877210
60Abnormal umbilical cord blood vessels (HP:0011403)2.23877210
61Single umbilical artery (HP:0001195)2.23877210
62Facial cleft (HP:0002006)2.23427522
63Abnormality of pyrimidine metabolism (HP:0004353)2.23380410
64Abnormality of chromosome stability (HP:0003220)2.23344204
65Pancytopenia (HP:0001876)2.22400765
66Abnormality of glycolysis (HP:0004366)2.21920783
67Increased serum pyruvate (HP:0003542)2.21920783
68Agnosia (HP:0010524)2.21663513
69Gout (HP:0001997)2.21501957
70Bone marrow hypocellularity (HP:0005528)2.18756513
71Aplasia involving forearm bones (HP:0009822)2.18714907
72Absent forearm bone (HP:0003953)2.18714907
73Hepatic necrosis (HP:0002605)2.17883336
74Rhabdomyosarcoma (HP:0002859)2.17556706
75Cellular immunodeficiency (HP:0005374)2.13442157
76Deviation of the thumb (HP:0009603)2.13115124
77Myelodysplasia (HP:0002863)2.11737976
78Hepatocellular necrosis (HP:0001404)2.11207092
79Progressive macrocephaly (HP:0004481)2.10711116
80Cleft eyelid (HP:0000625)2.09344235
81Septate vagina (HP:0001153)2.09302053
82Impulsivity (HP:0100710)2.07337698
83Horseshoe kidney (HP:0000085)2.07117682
84Respiratory difficulties (HP:0002880)2.07062015
85Microvesicular hepatic steatosis (HP:0001414)2.06298710
86Abnormal protein N-linked glycosylation (HP:0012347)2.05186023
87Abnormal protein glycosylation (HP:0012346)2.05186023
88Abnormal glycosylation (HP:0012345)2.05186023
89Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.05186023
90Broad distal phalanx of finger (HP:0009836)2.03832111
91CNS hypomyelination (HP:0003429)2.03262466
92Increased CSF lactate (HP:0002490)2.02131660
93Thrombocytosis (HP:0001894)2.01962377
94Basal cell carcinoma (HP:0002671)1.99470880
95Abnormal number of incisors (HP:0011064)1.98555426
96Nausea (HP:0002018)1.96489890
97Slender long bone (HP:0003100)1.95571475
98Aplasia/Hypoplasia of the uvula (HP:0010293)1.95196120
99Glossoptosis (HP:0000162)1.94977067
100Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.94588157
101CNS demyelination (HP:0007305)1.93753786
102Abnormality of serum amino acid levels (HP:0003112)1.92375254
103Atresia of the external auditory canal (HP:0000413)1.92307134
104Insomnia (HP:0100785)1.92122811
105Poor head control (HP:0002421)1.91100057
106Abnormality of the umbilical cord (HP:0010881)1.89722346
107Hyperglycinemia (HP:0002154)1.89252372
108Postnatal microcephaly (HP:0005484)1.88603155
109Type I transferrin isoform profile (HP:0003642)1.88574859
110Atrophy/Degeneration involving motor neurons (HP:0007373)1.88217811
111Duodenal stenosis (HP:0100867)1.87013825
112Small intestinal stenosis (HP:0012848)1.87013825
113Spastic diplegia (HP:0001264)1.86333381
114Ureteral duplication (HP:0000073)1.86198217
115Lactic acidosis (HP:0003128)1.86015825
116Aplasia/Hypoplasia of the sacrum (HP:0008517)1.85631111
117Squamous cell carcinoma (HP:0002860)1.85441074
118Increased nuchal translucency (HP:0010880)1.85064479
119Increased hepatocellular lipid droplets (HP:0006565)1.84139938
120Abnormalities of placenta or umbilical cord (HP:0001194)1.83979608
121Tracheoesophageal fistula (HP:0002575)1.83217639
122Personality changes (HP:0000751)1.82709142
123Renal Fanconi syndrome (HP:0001994)1.81816077
124Emotional lability (HP:0000712)1.80509905
125Respiratory failure (HP:0002878)1.80314332
126Dysphonia (HP:0001618)1.79535866
127Rhabdomyolysis (HP:0003201)1.78970123
12811 pairs of ribs (HP:0000878)1.76889957
129Lipid accumulation in hepatocytes (HP:0006561)1.76765032
130Death in infancy (HP:0001522)1.76687794
131Mitochondrial inheritance (HP:0001427)1.76524445
132Ragged-red muscle fibers (HP:0003200)1.76520958
133Triphalangeal thumb (HP:0001199)1.76174027
134Leukodystrophy (HP:0002415)1.74736231
135Hyperacusis (HP:0010780)1.70454565
136Hypergonadotropic hypogonadism (HP:0000815)1.69256737
137Achilles tendon contracture (HP:0001771)1.69164151
138Abnormality of cochlea (HP:0000375)1.68347808
139Short middle phalanx of the 5th finger (HP:0004220)1.67276320
140Orthostatic hypotension (HP:0001278)1.66235191

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.97762364
2WEE14.69259455
3VRK23.52815059
4NME23.36619630
5EIF2AK13.36086337
6CDC73.21173266
7PBK2.97543030
8STK162.77687789
9NEK12.60439865
10NEK22.51571118
11SMG12.49019202
12TSSK62.32062434
13ACVR1B2.22279768
14TTK2.18262185
15TESK22.13087129
16EIF2AK32.02213840
17PLK42.00144186
18EPHA21.92495293
19SRPK11.92123035
20SCYL21.84948124
21RPS6KB21.84145346
22BRSK21.80597374
23PLK11.75603644
24DYRK31.74499973
25CDK71.63573097
26VRK11.61275434
27BCKDK1.60875118
28RPS6KA41.58165267
29PIM21.56236010
30EEF2K1.48154695
31AURKB1.47591672
32MAP3K81.44216567
33ARAF1.43558415
34CDK41.34203077
35ATR1.33541476
36MAP3K111.31502983
37AURKA1.31283882
38KDR1.23274126
39MKNK11.22842162
40PAK41.21544026
41CHEK21.14910568
42BRSK11.13713167
43PASK1.12979030
44MAPKAPK31.09656737
45PKN21.07483025
46TAF11.07063092
47TLK11.04128598
48PLK31.02685834
49FLT31.01757474
50MAP2K30.97484029
51CHEK10.97429038
52LRRK20.92590794
53STK100.88665314
54ICK0.86064192
55CSNK1G30.85039008
56MKNK20.84421297
57NME10.83496012
58TAOK20.81961755
59TGFBR10.80307784
60CDK120.79848986
61CCNB10.79284504
62MAP3K100.79137601
63MST1R0.78440901
64ZAK0.78119424
65PAK10.77034833
66DAPK10.74889397
67CSNK2A20.74157968
68CSNK1A1L0.72434167
69ALK0.71106283
70STK40.71018094
71PIM10.70421944
72CDK20.69066510
73CSNK2A10.67381792
74PDK40.66170060
75PDK30.66170060
76LATS20.65653626
77MAP4K10.64870111
78BRAF0.61693204
79TESK10.61086274
80PNCK0.58694656
81AKT20.56109013
82MST40.55699825
83CSNK1G10.55622669
84MAP3K30.55265378
85PRKCI0.55080165
86PRPF4B0.52757251
87ILK0.52534613
88TRIB30.52091637
89ABL20.52044614
90* ATM0.49788868
91CDK80.49007852
92MAP3K50.45860051
93CDK11A0.45718484
94RAF10.44747762
95ERBB40.43754095
96CDK140.42813766
97MAP2K70.42218353
98CDK150.41897823
99CDK60.41843418
100CDK90.41734544
101PAK20.41538290
102EIF2AK20.41492374
103CDK190.40619588
104CDK10.40585962
105CSNK1E0.39612459
106DAPK30.39354848
107CDK180.38174037
108CSNK1G20.36675566
109MTOR0.36599816
110STK30.36553176
111MAPKAPK50.36292275
112DYRK20.35626833
113TAOK10.32386671
114STK38L0.31733279
115ZAP700.30802730
116MAPK110.30723864
117GRK60.30630735
118MAP2K20.28824151
119RPS6KA50.28312763
120AKT30.23943676
121IRAK30.22656380
122PDK20.22041416
123LIMK10.19196610

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.81484148
2Ribosome_Homo sapiens_hsa030104.08535211
3Mismatch repair_Homo sapiens_hsa034303.82572161
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.67616670
5Proteasome_Homo sapiens_hsa030503.65489616
6RNA polymerase_Homo sapiens_hsa030203.28778225
7Spliceosome_Homo sapiens_hsa030403.08392290
8RNA transport_Homo sapiens_hsa030132.97662357
9One carbon pool by folate_Homo sapiens_hsa006702.77617767
10Base excision repair_Homo sapiens_hsa034102.72333940
11Pyrimidine metabolism_Homo sapiens_hsa002402.65085555
12Nucleotide excision repair_Homo sapiens_hsa034202.60376605
13Homologous recombination_Homo sapiens_hsa034402.50779622
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.49767063
15Cell cycle_Homo sapiens_hsa041102.23862928
16Folate biosynthesis_Homo sapiens_hsa007901.72910005
17Fanconi anemia pathway_Homo sapiens_hsa034601.59892528
18RNA degradation_Homo sapiens_hsa030181.56646618
19Cysteine and methionine metabolism_Homo sapiens_hsa002701.50318346
20Basal transcription factors_Homo sapiens_hsa030221.47825601
21Biosynthesis of amino acids_Homo sapiens_hsa012301.45563414
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.43272544
23Pentose phosphate pathway_Homo sapiens_hsa000301.42867391
24Sulfur relay system_Homo sapiens_hsa041221.40254925
25Non-homologous end-joining_Homo sapiens_hsa034501.40232626
26p53 signaling pathway_Homo sapiens_hsa041151.40221136
27Vitamin B6 metabolism_Homo sapiens_hsa007501.34699907
28Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.34198810
29Purine metabolism_Homo sapiens_hsa002301.31736174
30Drug metabolism - other enzymes_Homo sapiens_hsa009831.25399392
31mRNA surveillance pathway_Homo sapiens_hsa030151.24352211
32Cyanoamino acid metabolism_Homo sapiens_hsa004601.23840626
33Carbon metabolism_Homo sapiens_hsa012001.20271543
34Fatty acid elongation_Homo sapiens_hsa000621.13018602
35Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.10318593
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.09640600
37Selenocompound metabolism_Homo sapiens_hsa004501.09577888
38Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.99890040
39Epstein-Barr virus infection_Homo sapiens_hsa051690.99816069
40Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.95742696
41Parkinsons disease_Homo sapiens_hsa050120.94415170
42Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.89153566
43Huntingtons disease_Homo sapiens_hsa050160.87984789
44Glutathione metabolism_Homo sapiens_hsa004800.87936975
45Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.83215911
46Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.78938492
47Oxidative phosphorylation_Homo sapiens_hsa001900.74830991
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70045405
49Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63772129
50Fructose and mannose metabolism_Homo sapiens_hsa000510.63114084
51Alcoholism_Homo sapiens_hsa050340.62161237
52Oocyte meiosis_Homo sapiens_hsa041140.62043107
53Antigen processing and presentation_Homo sapiens_hsa046120.61616883
54Arginine and proline metabolism_Homo sapiens_hsa003300.54645696
55Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.54511645
56Viral carcinogenesis_Homo sapiens_hsa052030.54243161
57Phenylalanine metabolism_Homo sapiens_hsa003600.53998525
58Protein export_Homo sapiens_hsa030600.52698726
59* Herpes simplex infection_Homo sapiens_hsa051680.51943547
60Thyroid cancer_Homo sapiens_hsa052160.51804340
61Galactose metabolism_Homo sapiens_hsa000520.51152960
62Metabolic pathways_Homo sapiens_hsa011000.48977509
63Systemic lupus erythematosus_Homo sapiens_hsa053220.48934655
64Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.48626306
65Pyruvate metabolism_Homo sapiens_hsa006200.45045999
66HTLV-I infection_Homo sapiens_hsa051660.42657663
67N-Glycan biosynthesis_Homo sapiens_hsa005100.42029097
68Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.39177024
69Legionellosis_Homo sapiens_hsa051340.39172442
70Sulfur metabolism_Homo sapiens_hsa009200.38379844
71Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.38301157
72Arginine biosynthesis_Homo sapiens_hsa002200.38043726
73Fatty acid metabolism_Homo sapiens_hsa012120.37475775
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.36156275
75Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.34295880
76Small cell lung cancer_Homo sapiens_hsa052220.31752287
77Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.30906071
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.27165253
79Bladder cancer_Homo sapiens_hsa052190.26430088
80beta-Alanine metabolism_Homo sapiens_hsa004100.26405875
81Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.26134784
82Regulation of autophagy_Homo sapiens_hsa041400.25887631
83Steroid biosynthesis_Homo sapiens_hsa001000.24598956
84Alzheimers disease_Homo sapiens_hsa050100.24542849
85Apoptosis_Homo sapiens_hsa042100.24143482
86Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.23826416
87Propanoate metabolism_Homo sapiens_hsa006400.23535963
88Renin-angiotensin system_Homo sapiens_hsa046140.22975613
89Vibrio cholerae infection_Homo sapiens_hsa051100.22952188
90Pancreatic cancer_Homo sapiens_hsa052120.22710816
91Pentose and glucuronate interconversions_Homo sapiens_hsa000400.22689502
92Central carbon metabolism in cancer_Homo sapiens_hsa052300.21529831
93Lysine degradation_Homo sapiens_hsa003100.20945693
94Chronic myeloid leukemia_Homo sapiens_hsa052200.20892971
95Tyrosine metabolism_Homo sapiens_hsa003500.17973248
96Fatty acid degradation_Homo sapiens_hsa000710.16767952
97Shigellosis_Homo sapiens_hsa051310.16305126
98Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.16123158
99Vitamin digestion and absorption_Homo sapiens_hsa049770.15787601
100HIF-1 signaling pathway_Homo sapiens_hsa040660.15646466
101Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.15627918
102MicroRNAs in cancer_Homo sapiens_hsa052060.15541613
103Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.12896934
104Non-small cell lung cancer_Homo sapiens_hsa052230.11701434
105Acute myeloid leukemia_Homo sapiens_hsa052210.10046690
106Hepatitis B_Homo sapiens_hsa051610.06548666
107Colorectal cancer_Homo sapiens_hsa052100.05942601
108Fat digestion and absorption_Homo sapiens_hsa049750.05312916
109Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.05227369
110Hippo signaling pathway_Homo sapiens_hsa043900.04724214
111Cardiac muscle contraction_Homo sapiens_hsa042600.03857018
112Primary immunodeficiency_Homo sapiens_hsa053400.03715669
113Peroxisome_Homo sapiens_hsa041460.03514279
114Caffeine metabolism_Homo sapiens_hsa002320.02975593
115Transcriptional misregulation in cancer_Homo sapiens_hsa052020.02246458

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