DKC1

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





Description: This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA strand elongation involved in DNA replication (GO:0006271)4.94063667
2DNA replication initiation (GO:0006270)4.92216840
3DNA strand elongation (GO:0022616)4.74224803
4telomere maintenance via semi-conservative replication (GO:0032201)4.73965015
5DNA unwinding involved in DNA replication (GO:0006268)4.63046441
6ribosomal small subunit assembly (GO:0000028)4.55298063
7maturation of SSU-rRNA (GO:0030490)4.52182896
8nucleobase biosynthetic process (GO:0046112)4.51715791
9mitotic metaphase plate congression (GO:0007080)4.39887337
10DNA replication checkpoint (GO:0000076)4.31413248
11telomere maintenance via recombination (GO:0000722)4.30529078
12purine nucleobase biosynthetic process (GO:0009113)4.25882466
13protein localization to kinetochore (GO:0034501)4.22192264
14CENP-A containing nucleosome assembly (GO:0034080)4.19756501
15DNA deamination (GO:0045006)4.18935650
16formation of translation preinitiation complex (GO:0001731)4.16428415
17chromatin remodeling at centromere (GO:0031055)4.14642559
18sister chromatid segregation (GO:0000819)4.12682951
19mitotic recombination (GO:0006312)4.09567480
20IMP biosynthetic process (GO:0006188)4.09025056
21ribosomal large subunit biogenesis (GO:0042273)4.08033644
22kinetochore organization (GO:0051383)3.95069989
23ribosome biogenesis (GO:0042254)3.94537060
24DNA topological change (GO:0006265)3.93458535
25metaphase plate congression (GO:0051310)3.90852410
26ribonucleoprotein complex biogenesis (GO:0022613)3.88915259
27* telomere maintenance via telomere lengthening (GO:0010833)3.84642741
28ribosome assembly (GO:0042255)3.79926346
29DNA replication-independent nucleosome organization (GO:0034724)3.77441025
30DNA replication-independent nucleosome assembly (GO:0006336)3.77441025
31mitotic nuclear envelope disassembly (GO:0007077)3.76414015
32viral transcription (GO:0019083)3.74551242
33nucleotide-excision repair, DNA gap filling (GO:0006297)3.72501247
34translational termination (GO:0006415)3.72388633
35pore complex assembly (GO:0046931)3.69151259
36IMP metabolic process (GO:0046040)3.64871651
37nuclear pore organization (GO:0006999)3.64670296
38regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.64453761
39ribosomal small subunit biogenesis (GO:0042274)3.63470573
40mitotic sister chromatid cohesion (GO:0007064)3.62324573
41protein localization to chromosome, centromeric region (GO:0071459)3.61714549
42regulation of translational fidelity (GO:0006450)3.61175786
43folic acid-containing compound biosynthetic process (GO:0009396)3.58810124
44kinetochore assembly (GO:0051382)3.58618340
45DNA replication-dependent nucleosome organization (GO:0034723)3.58092716
46DNA replication-dependent nucleosome assembly (GO:0006335)3.58092716
47* rRNA processing (GO:0006364)3.55285815
48regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.52892405
49spliceosomal snRNP assembly (GO:0000387)3.50603297
50histone exchange (GO:0043486)3.49409905
51attachment of spindle microtubules to kinetochore (GO:0008608)3.48030251
52negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.47838423
53membrane disassembly (GO:0030397)3.45458168
54nuclear envelope disassembly (GO:0051081)3.45458168
55translational initiation (GO:0006413)3.45238194
56DNA ligation (GO:0006266)3.45232550
57* rRNA metabolic process (GO:0016072)3.44627270
58proteasome assembly (GO:0043248)3.44135097
59establishment of chromosome localization (GO:0051303)3.43800639
60translational elongation (GO:0006414)3.41496609
61nuclear pore complex assembly (GO:0051292)3.39567210
62maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.36008052
63regulation of nuclear cell cycle DNA replication (GO:0033262)3.33726224
64maturation of 5.8S rRNA (GO:0000460)3.32834322
65transcription-coupled nucleotide-excision repair (GO:0006283)3.31956494
66viral mRNA export from host cell nucleus (GO:0046784)3.28500531
67establishment of viral latency (GO:0019043)3.28320038
68double-strand break repair via nonhomologous end joining (GO:0006303)3.22835224
69non-recombinational repair (GO:0000726)3.22835224
70nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.22716318
71negative regulation of mRNA processing (GO:0050686)3.22502767
72tRNA aminoacylation for protein translation (GO:0006418)3.21166088
73DNA duplex unwinding (GO:0032508)3.18636352
74DNA geometric change (GO:0032392)3.18570659
75rRNA modification (GO:0000154)3.18238773
76positive regulation of chromosome segregation (GO:0051984)3.17730167
77meiotic chromosome segregation (GO:0045132)3.17641293
78mitotic spindle checkpoint (GO:0071174)3.17355971
79regulation of spindle organization (GO:0090224)3.16793864
80regulation of centriole replication (GO:0046599)3.16326253
81* pseudouridine synthesis (GO:0001522)3.15512618
82regulation of double-strand break repair via homologous recombination (GO:0010569)3.15393342
83amino acid activation (GO:0043038)3.15337599
84tRNA aminoacylation (GO:0043039)3.15337599
85mitotic sister chromatid segregation (GO:0000070)3.14750281
86negative regulation of RNA splicing (GO:0033119)3.14323458
87regulation of chromosome segregation (GO:0051983)3.14170558
88establishment of integrated proviral latency (GO:0075713)3.13821330
89SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.13163439
90negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.12554347
91negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.11684336
92negative regulation of ligase activity (GO:0051352)3.11684336
93* telomere maintenance (GO:0000723)3.10953394
94positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.10609465
95* telomere organization (GO:0032200)3.10545365
96regulation of translational termination (GO:0006449)3.09719077
97somatic hypermutation of immunoglobulin genes (GO:0016446)3.09085218
98somatic diversification of immune receptors via somatic mutation (GO:0002566)3.09085218
99mitotic chromosome condensation (GO:0007076)3.08439563
100chromosome segregation (GO:0007059)3.06009611
101intra-S DNA damage checkpoint (GO:0031573)3.05343009
102negative regulation of mRNA metabolic process (GO:1903312)3.05145343
103cotranslational protein targeting to membrane (GO:0006613)3.05117950
104nucleobase-containing small molecule interconversion (GO:0015949)3.03628408
105spliceosomal complex assembly (GO:0000245)3.03540972
106deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.03294003
107protein targeting to ER (GO:0045047)3.02932930
108mitotic spindle assembly checkpoint (GO:0007094)3.01450610
109anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.01334175
110replication fork processing (GO:0031297)2.99802052
111cell cycle G1/S phase transition (GO:0044843)2.99247727
112G1/S transition of mitotic cell cycle (GO:0000082)2.99247727
113mismatch repair (GO:0006298)2.98880481
114regulation of helicase activity (GO:0051095)2.98390798
115spindle checkpoint (GO:0031577)2.98308014
116negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.95862773
117negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.95455196
118negative regulation of sister chromatid segregation (GO:0033046)2.95455196
119negative regulation of mitotic sister chromatid separation (GO:2000816)2.95455196
120negative regulation of mitotic sister chromatid segregation (GO:0033048)2.95455196
121negative regulation of chromosome segregation (GO:0051985)2.95386032
122cellular component biogenesis (GO:0044085)2.94693808
123regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.94200412
124chromatin assembly or disassembly (GO:0006333)2.93538931
125cellular protein complex disassembly (GO:0043624)2.93143892
126termination of RNA polymerase III transcription (GO:0006386)2.92837388
127transcription elongation from RNA polymerase III promoter (GO:0006385)2.92837388
128regulation of centrosome cycle (GO:0046605)2.91076541
129spindle assembly checkpoint (GO:0071173)2.90613906

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.26997792
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.60155218
3E2F4_17652178_ChIP-ChIP_JURKAT_Human3.95811437
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.81352555
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.58684321
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.33613237
7* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.20766128
8MYC_19079543_ChIP-ChIP_MESCs_Mouse3.17850162
9EST1_17652178_ChIP-ChIP_JURKAT_Human3.14290065
10* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.99430086
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.94201700
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.93227711
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.90271319
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.88005609
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.60716235
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.56955488
17NELFA_20434984_ChIP-Seq_ESCs_Mouse2.39134876
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.37580794
19VDR_23849224_ChIP-Seq_CD4+_Human2.36858415
20XRN2_22483619_ChIP-Seq_HELA_Human2.34188104
21AR_21909140_ChIP-Seq_LNCAP_Human2.19431455
22NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.17680275
23MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.12997592
24ELF1_17652178_ChIP-ChIP_JURKAT_Human2.11759336
25FOXP3_21729870_ChIP-Seq_TREG_Human2.10558420
26E2F1_21310950_ChIP-Seq_MCF-7_Human2.10321805
27MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.06350109
28E2F1_18555785_ChIP-Seq_MESCs_Mouse2.03821219
29TTF2_22483619_ChIP-Seq_HELA_Human1.96675315
30DCP1A_22483619_ChIP-Seq_HELA_Human1.96244762
31HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.94992819
32SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.93829280
33E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.92047558
34MYCN_18555785_ChIP-Seq_MESCs_Mouse1.89127290
35* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.89111178
36GABP_19822575_ChIP-Seq_HepG2_Human1.83278212
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.81532415
38PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.81321485
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.81127377
40POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.74229342
41YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73384131
42ELK1_19687146_ChIP-ChIP_HELA_Human1.73010443
43MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.72114262
44CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.71944339
45NANOG_18555785_ChIP-Seq_MESCs_Mouse1.70223003
46FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.69057230
47EGR1_19374776_ChIP-ChIP_THP-1_Human1.61851679
48CIITA_25753668_ChIP-Seq_RAJI_Human1.61403527
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.57152270
50TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.56507824
51YY1_21170310_ChIP-Seq_MESCs_Mouse1.53951867
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.50909597
53ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.48956893
54SRF_21415370_ChIP-Seq_HL-1_Mouse1.45258474
55KDM5A_27292631_Chip-Seq_BREAST_Human1.42577733
56MYC_22102868_ChIP-Seq_BL_Human1.40004344
57NOTCH1_21737748_ChIP-Seq_TLL_Human1.39456447
58TP63_19390658_ChIP-ChIP_HaCaT_Human1.34934063
59POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.33399042
60SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.29598857
61* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.28363694
62PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.27013673
63FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.26402546
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25132658
65PADI4_21655091_ChIP-ChIP_MCF-7_Human1.22675231
66POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.19658808
67E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.16410953
68SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.15690522
69SOX2_18555785_ChIP-Seq_MESCs_Mouse1.14176925
70MYC_18940864_ChIP-ChIP_HL60_Human1.13651481
71CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.13194349
72ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.12526165
73STAT3_1855785_ChIP-Seq_MESCs_Mouse1.09581877
74ESR1_15608294_ChIP-ChIP_MCF-7_Human1.08933450
75HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.08090475
76ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.07715599
77KLF4_18555785_ChIP-Seq_MESCs_Mouse1.07651196
78CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.06552343
79KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06215740
80TFEB_21752829_ChIP-Seq_HELA_Human1.02387620
81PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.02319205
82CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.00215991
83SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.99419135
84ZNF263_19887448_ChIP-Seq_K562_Human0.95340149
85HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.94098449
86GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.92379499
87DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.90901240
88SPI1_23547873_ChIP-Seq_NB4_Human0.90221026
89CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.89983592
90BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.89961993
91SOX17_20123909_ChIP-Seq_XEN_Mouse0.89648160
92CHD1_26751641_Chip-Seq_LNCaP_Human0.88793567
93SALL1_21062744_ChIP-ChIP_HESCs_Human0.88430583
94CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.86709592
95ELK1_22589737_ChIP-Seq_MCF10A_Human0.85798227
96HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.85246394
97CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.81695784
98CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.80508124
99TCF3_18692474_ChIP-Seq_MEFs_Mouse0.79892008
100DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.78643981
101TBX5_21415370_ChIP-Seq_HL-1_Mouse0.77961301
102NANOG_21062744_ChIP-ChIP_HESCs_Human0.76531770
103NANOG_16153702_ChIP-ChIP_HESCs_Human0.75998777
104NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.75976115
105NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.75423414
106CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.74400140
107SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.73604383
108KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.73034433
109IRF1_19129219_ChIP-ChIP_H3396_Human0.72926513
110SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.72852035
111VDR_21846776_ChIP-Seq_THP-1_Human0.72190610
112SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.71954348
113KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.71645464
114KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.71645464
115TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.71071263

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.71621520
2MP0010094_abnormal_chromosome_stability5.26905219
3* MP0003111_abnormal_nucleus_morphology4.63107147
4MP0008057_abnormal_DNA_replication4.57501101
5* MP0004957_abnormal_blastocyst_morpholog4.57400837
6MP0003077_abnormal_cell_cycle4.19857233
7* MP0008058_abnormal_DNA_repair3.61794682
8MP0008007_abnormal_cellular_replicative3.07649397
9MP0008932_abnormal_embryonic_tissue2.76293226
10* MP0002396_abnormal_hematopoietic_system2.57020622
11MP0003123_paternal_imprinting2.33797831
12MP0000350_abnormal_cell_proliferation2.26367288
13MP0003786_premature_aging2.22980802
14MP0008877_abnormal_DNA_methylation2.20659732
15* MP0001730_embryonic_growth_arrest2.13042699
16MP0000490_abnormal_crypts_of1.89175562
17MP0006292_abnormal_olfactory_placode1.85008489
18MP0010352_gastrointestinal_tract_polyps1.83846961
19MP0003718_maternal_effect1.83325525
20MP0002877_abnormal_melanocyte_morpholog1.70345103
21* MP0005380_embryogenesis_phenotype1.66600958
22* MP0001672_abnormal_embryogenesis/_devel1.66600958
23MP0010307_abnormal_tumor_latency1.66120849
24* MP0001697_abnormal_embryo_size1.63980933
25MP0004808_abnormal_hematopoietic_stem1.55788333
26* MP0002080_prenatal_lethality1.51900261
27* MP0000313_abnormal_cell_death1.50926210
28MP0003763_abnormal_thymus_physiology1.49356246
29MP0003984_embryonic_growth_retardation1.48576848
30* MP0002019_abnormal_tumor_incidence1.46333443
31MP0002085_abnormal_embryonic_tissue1.45946879
32MP0002088_abnormal_embryonic_growth/wei1.44687135
33MP0001293_anophthalmia1.31045574
34* MP0002084_abnormal_developmental_patter1.30628991
35MP0009333_abnormal_splenocyte_physiolog1.30604912
36MP0004185_abnormal_adipocyte_glucose1.28419021
37MP0002210_abnormal_sex_determination1.26776104
38MP0003315_abnormal_perineum_morphology1.26650807
39* MP0002086_abnormal_extraembryonic_tissu1.24439107
40MP0004147_increased_porphyrin_level1.23353399
41MP0003806_abnormal_nucleotide_metabolis1.21323749
42MP0003567_abnormal_fetal_cardiomyocyte1.19557968
43MP0004233_abnormal_muscle_weight1.18638012
44MP0000703_abnormal_thymus_morphology1.18550889
45MP0001545_abnormal_hematopoietic_system1.17936965
46MP0005397_hematopoietic_system_phenotyp1.17936965
47MP0004197_abnormal_fetal_growth/weight/1.17916024
48MP0003121_genomic_imprinting1.17673750
49MP0005501_abnormal_skin_physiology1.15432403
50* MP0002398_abnormal_bone_marrow1.12665519
51MP0010030_abnormal_orbit_morphology1.12506074
52MP0001145_abnormal_male_reproductive1.11324567
53MP0003890_abnormal_embryonic-extraembry1.07744607
54MP0002796_impaired_skin_barrier1.06858596
55MP0002132_abnormal_respiratory_system1.06637627
56* MP0002722_abnormal_immune_system1.05759658
57MP0001661_extended_life_span1.05530359
58MP0008995_early_reproductive_senescence1.03167524
59MP0003656_abnormal_erythrocyte_physiolo1.02927424
60MP0003950_abnormal_plasma_membrane1.01951675
61MP0003186_abnormal_redox_activity1.01335442
62* MP0000689_abnormal_spleen_morphology1.01222436
63MP0000678_abnormal_parathyroid_gland1.00388643
64MP0000653_abnormal_sex_gland0.98515975
65MP0003941_abnormal_skin_development0.96603606
66MP0002160_abnormal_reproductive_system0.96407237
67MP0001119_abnormal_female_reproductive0.93498761
68* MP0001929_abnormal_gametogenesis0.93046981
69MP0005075_abnormal_melanosome_morpholog0.91589746
70MP0009379_abnormal_foot_pigmentation0.88367089
71MP0004133_heterotaxia0.88236418
72MP0000566_synostosis0.86598186
73MP0005389_reproductive_system_phenotype0.85963488
74* MP0002429_abnormal_blood_cell0.85685798
75MP0001727_abnormal_embryo_implantation0.82366743
76MP0001881_abnormal_mammary_gland0.81936758
77MP0009697_abnormal_copulation0.81337813
78MP0005451_abnormal_body_composition0.81139513
79MP0009703_decreased_birth_body0.79615301
80MP0002095_abnormal_skin_pigmentation0.79291228
81MP0000858_altered_metastatic_potential0.77968187
82MP0001853_heart_inflammation0.75093209
83MP0003937_abnormal_limbs/digits/tail_de0.74737614
84MP0003699_abnormal_female_reproductive0.74606574
85* MP0000358_abnormal_cell_content/0.74134135
86MP0002111_abnormal_tail_morphology0.73135739
87* MP0000716_abnormal_immune_system0.71926871
88MP0001919_abnormal_reproductive_system0.70859983
89MP0003943_abnormal_hepatobiliary_system0.70768995
90MP0001286_abnormal_eye_development0.69263529
91* MP0005384_cellular_phenotype0.68742012
92MP0006054_spinal_hemorrhage0.68380923
93MP0000372_irregular_coat_pigmentation0.67363551
94MP0002102_abnormal_ear_morphology0.66749604
95MP0002938_white_spotting0.66562239
96MP0010234_abnormal_vibrissa_follicle0.66476555
97MP0000627_abnormal_mammary_gland0.65476181
98MP0008789_abnormal_olfactory_epithelium0.64011616
99MP0003119_abnormal_digestive_system0.63243893
100MP0009672_abnormal_birth_weight0.62674639
101MP0000579_abnormal_nail_morphology0.62662994
102MP0002697_abnormal_eye_size0.62395221
103MP0003136_yellow_coat_color0.62279029
104MP0005076_abnormal_cell_differentiation0.61337589
105MP0006035_abnormal_mitochondrial_morpho0.61156998
106MP0006036_abnormal_mitochondrial_physio0.60620350
107MP0000049_abnormal_middle_ear0.60327477
108MP0000428_abnormal_craniofacial_morphol0.60010903
109MP0005408_hypopigmentation0.59961314
110MP0005174_abnormal_tail_pigmentation0.59173865
111MP0005395_other_phenotype0.58047724
112MP0001188_hyperpigmentation0.57880112
113MP0001873_stomach_inflammation0.57273850
114MP0002163_abnormal_gland_morphology0.57150957
115* MP0002161_abnormal_fertility/fecundity0.56953971
116* MP0005621_abnormal_cell_physiology0.56822016
117MP0005671_abnormal_response_to0.56731590
118MP0004264_abnormal_extraembryonic_tissu0.56535294
119MP0003698_abnormal_male_reproductive0.56513185
120MP0001800_abnormal_humoral_immune0.56405803
121MP0000477_abnormal_intestine_morphology0.56214520
122MP0000537_abnormal_urethra_morphology0.55272809
123MP0002092_abnormal_eye_morphology0.54759135
124MP0001915_intracranial_hemorrhage0.54583429
125MP0002075_abnormal_coat/hair_pigmentati0.52976810
126MP0002420_abnormal_adaptive_immunity0.52016538
127MP0002006_tumorigenesis0.51922202
128* MP0001216_abnormal_epidermal_layer0.51738664
129MP0001346_abnormal_lacrimal_gland0.51165720
130MP0003221_abnormal_cardiomyocyte_apopto0.50981786
131MP0001835_abnormal_antigen_presentation0.50594854
132MP0005220_abnormal_exocrine_pancreas0.48451898
133MP0004782_abnormal_surfactant_physiolog0.47824580
134MP0000647_abnormal_sebaceous_gland0.47526520

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.16320178
2Reticulocytopenia (HP:0001896)4.57668915
3Chromsome breakage (HP:0040012)4.46882882
4Abnormality of cells of the erythroid lineage (HP:0012130)4.34537859
5Abnormal number of erythroid precursors (HP:0012131)4.18530827
6Chromosomal breakage induced by crosslinking agents (HP:0003221)4.12482339
7Breast hypoplasia (HP:0003187)3.79165402
8Abnormality of chromosome stability (HP:0003220)3.62311212
9Selective tooth agenesis (HP:0001592)3.60199352
10Aplastic anemia (HP:0001915)3.55975809
11Colon cancer (HP:0003003)3.54426407
12Meckel diverticulum (HP:0002245)3.26947288
13Patellar aplasia (HP:0006443)3.19113528
14Medulloblastoma (HP:0002885)3.15545775
15Multiple enchondromatosis (HP:0005701)3.12084263
16Abnormality of the ileum (HP:0001549)3.11525534
17Progressive muscle weakness (HP:0003323)3.09311219
18Abnormality of the anterior horn cell (HP:0006802)3.04437557
19Degeneration of anterior horn cells (HP:0002398)3.04437557
20Aplasia/Hypoplasia of the patella (HP:0006498)3.03713698
21Macrocytic anemia (HP:0001972)2.98325966
22Abnormality of glycolysis (HP:0004366)2.98001566
23Aplasia/Hypoplasia of the uvula (HP:0010293)2.96629386
24* Abnormality of the preputium (HP:0100587)2.94108168
25Absent thumb (HP:0009777)2.87348279
26Pallor (HP:0000980)2.86939808
27Carpal bone hypoplasia (HP:0001498)2.83894592
28Supernumerary spleens (HP:0009799)2.81717259
29Abnormal number of incisors (HP:0011064)2.81527838
30Increased serum pyruvate (HP:0003542)2.80602747
31Cerebral hypomyelination (HP:0006808)2.77457451
32* Myelodysplasia (HP:0002863)2.76244393
33Agnosia (HP:0010524)2.72813187
34Ependymoma (HP:0002888)2.71384210
35Absent radius (HP:0003974)2.70246577
36Duodenal stenosis (HP:0100867)2.65452986
37Small intestinal stenosis (HP:0012848)2.65452986
38IgM deficiency (HP:0002850)2.65243118
3911 pairs of ribs (HP:0000878)2.63448888
40Rhabdomyosarcoma (HP:0002859)2.56507521
41* Rough bone trabeculation (HP:0100670)2.54499589
42Impulsivity (HP:0100710)2.54391995
43Abnormal lung lobation (HP:0002101)2.52635487
44Aplasia involving forearm bones (HP:0009822)2.51239593
45Absent forearm bone (HP:0003953)2.51239593
46* Bone marrow hypocellularity (HP:0005528)2.44739229
47Abnormality of the labia minora (HP:0012880)2.44023944
48Progressive external ophthalmoplegia (HP:0000590)2.43885810
49Microretrognathia (HP:0000308)2.42440192
50Sloping forehead (HP:0000340)2.42357938
51Thrombocytosis (HP:0001894)2.41846335
52Abnormality of methionine metabolism (HP:0010901)2.33995837
53Triphalangeal thumb (HP:0001199)2.31143872
54* Premature graying of hair (HP:0002216)2.31006441
55* Oral leukoplakia (HP:0002745)2.30806124
56Duplicated collecting system (HP:0000081)2.28549182
57Asplenia (HP:0001746)2.22344520
58Abnormality of the duodenum (HP:0002246)2.19883935
59Basal cell carcinoma (HP:0002671)2.19408831
60Aplasia/Hypoplasia of the sacrum (HP:0008517)2.18153562
61Ectopic kidney (HP:0000086)2.16903386
62* Neoplasm of the pancreas (HP:0002894)2.14106136
63Abnormality of the pons (HP:0007361)2.13929845
64* Tracheoesophageal fistula (HP:0002575)2.11483286
65Reduced antithrombin III activity (HP:0001976)2.10622062
66Abnormality of cochlea (HP:0000375)2.10042112
67Choanal atresia (HP:0000453)2.09553180
68Microvesicular hepatic steatosis (HP:0001414)2.09035567
69Atresia of the external auditory canal (HP:0000413)2.08834228
70Abnormality of DNA repair (HP:0003254)2.07915618
71* Lymphoma (HP:0002665)2.07638970
72Abnormality of the renal collecting system (HP:0004742)2.07074717
73Cleft eyelid (HP:0000625)2.05458253
74Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.05074936
75Cholecystitis (HP:0001082)2.04648684
76Abnormal gallbladder physiology (HP:0012438)2.04648684
77Increased CSF lactate (HP:0002490)2.04344232
78Abnormal spermatogenesis (HP:0008669)2.04336674
79Clubbing of toes (HP:0100760)2.03259557
80Aplasia/Hypoplasia of the spleen (HP:0010451)2.03196682
81Acute encephalopathy (HP:0006846)2.01951711
82Type I transferrin isoform profile (HP:0003642)2.01544772
83Amaurosis fugax (HP:0100576)2.01047193
84Prominent nose (HP:0000448)2.00935199
85Premature ovarian failure (HP:0008209)2.00641135
86Abnormality of the carotid arteries (HP:0005344)2.00518403
87Short middle phalanx of the 5th finger (HP:0004220)1.99841883
88Abnormal mitochondria in muscle tissue (HP:0008316)1.98910143
89Trismus (HP:0000211)1.98127922
90Acute necrotizing encephalopathy (HP:0006965)1.97134696
91Short thumb (HP:0009778)1.96325581
92Increased nuchal translucency (HP:0010880)1.95713156
93Secondary amenorrhea (HP:0000869)1.95048718
94Abnormality of the umbilical cord (HP:0010881)1.93917562
95Nephroblastoma (Wilms tumor) (HP:0002667)1.93245758
96* Cellular immunodeficiency (HP:0005374)1.92103053
97Abnormal umbilical cord blood vessels (HP:0011403)1.91991761
98Single umbilical artery (HP:0001195)1.91991761
99Abnormality of the fetal cardiovascular system (HP:0010948)1.91991761
100Proximal placement of thumb (HP:0009623)1.91745216
101Lipid accumulation in hepatocytes (HP:0006561)1.91702187
102Abnormality of homocysteine metabolism (HP:0010919)1.89618980
103Homocystinuria (HP:0002156)1.89618980
104Atrophy/Degeneration involving motor neurons (HP:0007373)1.89545979
105Volvulus (HP:0002580)1.89323340
106Hypoplasia of the radius (HP:0002984)1.88769424
107* Pancytopenia (HP:0001876)1.88190428
108Abnormality of reticulocytes (HP:0004312)1.87691006
109* Horseshoe kidney (HP:0000085)1.83578859
110Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.82705590
111Abnormal protein N-linked glycosylation (HP:0012347)1.82705590
112Abnormal protein glycosylation (HP:0012346)1.82705590
113Abnormal glycosylation (HP:0012345)1.82705590
114Glioma (HP:0009733)1.82349851
115Muscle fiber atrophy (HP:0100295)1.82315099
116Increased hepatocellular lipid droplets (HP:0006565)1.82008982
117Neoplasm of the colon (HP:0100273)1.81199274
118Embryonal renal neoplasm (HP:0011794)1.80823076
119Hypoplasia of the capital femoral epiphysis (HP:0003090)1.80782275
120Deviation of the thumb (HP:0009603)1.79960063
121Ureteral duplication (HP:0000073)1.78955495
122Aplasia/Hypoplasia of the sternum (HP:0006714)1.77518744
123Hypoplasia of the pons (HP:0012110)1.77432235
124Missing ribs (HP:0000921)1.77209059
125Septate vagina (HP:0001153)1.77088537
126Postnatal microcephaly (HP:0005484)1.76874363
127Facial cleft (HP:0002006)1.76382806
128* Abnormal trabecular bone morphology (HP:0100671)1.75581985
129Megaloblastic anemia (HP:0001889)1.74893783
130Cafe-au-lait spot (HP:0000957)1.74406420
131Increased serum lactate (HP:0002151)1.73615494
132Neoplasm of striated muscle (HP:0009728)1.73073773
133Irregular epiphyses (HP:0010582)1.73034979
134Abnormality of the heme biosynthetic pathway (HP:0010472)1.72185664
135Type 2 muscle fiber atrophy (HP:0003554)1.71894142
136Abnormality of pyrimidine metabolism (HP:0004353)1.71845481

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WEE14.52075298
2BUB14.46992103
3CDC74.17751649
4EIF2AK13.38707061
5VRK22.93428162
6SRPK12.82531761
7TTK2.72925027
8TSSK62.69635101
9STK162.59492838
10NEK22.53889240
11MKNK12.49434101
12BRSK22.29526549
13NME22.22734429
14EIF2AK32.17100453
15MKNK22.14062125
16PLK42.10692845
17VRK12.01546862
18PLK12.01411750
19ATR1.90783455
20ACVR1B1.86823808
21SMG11.84782624
22CDK71.83688321
23TLK11.74328388
24AURKB1.73912477
25NEK11.69341310
26PASK1.65692356
27PLK31.65334408
28RPS6KB21.63580191
29TAF11.60902561
30DYRK31.54207443
31RPS6KA41.45125799
32CHEK21.43556174
33TESK21.43551207
34TGFBR11.36316542
35ZAK1.30577519
36CHEK11.25212943
37NUAK11.24968328
38CCNB11.22095025
39CDK41.21216771
40BRSK11.19819600
41AURKA1.19679414
42MAP3K81.15799873
43CDK81.14939626
44TRIM281.13327499
45STK101.12734622
46PDK21.10283892
47CDK121.09603829
48MST1R1.05836602
49EIF2AK21.04853915
50EPHA21.01037255
51ATM0.95677444
52STK40.91781032
53PNCK0.88654158
54MAP4K10.87259559
55BRD40.85615206
56CDK20.85059733
57PIM20.84521721
58PIM10.81398517
59EEF2K0.80830689
60FLT30.76880297
61* CSNK2A20.76000148
62CSNK2A10.74705869
63PAK40.73381705
64PBK0.72542047
65KDR0.69327356
66ERBB40.67264391
67TEC0.66425360
68ALK0.65418513
69CDK10.63849448
70SCYL20.58188356
71BTK0.56089357
72BRAF0.54003769
73TXK0.53391836
74NME10.53101408
75RPS6KA50.50103451
76PAK10.48383588
77JAK30.47322993
78CDK60.47095691
79CDK90.44345893
80TAOK20.44258252
81PRKCI0.44093697
82RAF10.43684062
83MELK0.42424329
84MAP2K30.41351627
85LRRK20.40781369
86CLK10.39902900
87MAPKAPK30.39239506
88MAP3K110.38020300
89YES10.37038815
90ZAP700.37033865
91FGFR10.36720681
92MAPKAPK50.35657469
93LATS10.35196086
94MET0.33656498
95IRAK40.33529140
96AKT30.32957891
97MST40.32739402
98PRKDC0.31469940
99STK30.31451075
100LATS20.30430757
101* CSNK1E0.30262234
102ILK0.27140385
103AKT20.26376094
104STK38L0.26263955
105KIT0.25993600
106MTOR0.25903678
107MAPK140.24187617
108PAK20.24119778
109BCKDK0.23032998
110IRAK30.22302313
111RPS6KB10.21040894
112CSF1R0.20656292
113LYN0.20462701
114MAP3K100.19000694
115AKT10.18963369
116DAPK10.18924230
117NEK90.18393879
118CDK30.18231420
119GSK3B0.17929868
120SIK30.17679110
121CDK11A0.16585222
122ICK0.15111373
123BMX0.14917887
124CDK180.14659948

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.20101751
2Mismatch repair_Homo sapiens_hsa034304.49517314
3* Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.87284094
4Ribosome_Homo sapiens_hsa030103.62642286
5RNA polymerase_Homo sapiens_hsa030203.43203959
6Homologous recombination_Homo sapiens_hsa034403.39955947
7Spliceosome_Homo sapiens_hsa030403.37610441
8Proteasome_Homo sapiens_hsa030503.22265338
9Base excision repair_Homo sapiens_hsa034103.16657087
10RNA transport_Homo sapiens_hsa030133.14635439
11Nucleotide excision repair_Homo sapiens_hsa034203.07440803
12Cell cycle_Homo sapiens_hsa041102.68731700
13One carbon pool by folate_Homo sapiens_hsa006702.67044820
14Pyrimidine metabolism_Homo sapiens_hsa002402.61311043
15Fanconi anemia pathway_Homo sapiens_hsa034602.50965550
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.39727622
17Non-homologous end-joining_Homo sapiens_hsa034502.30412157
18RNA degradation_Homo sapiens_hsa030182.16203414
19Basal transcription factors_Homo sapiens_hsa030222.02783007
20mRNA surveillance pathway_Homo sapiens_hsa030151.70524428
21p53 signaling pathway_Homo sapiens_hsa041151.52124250
22Purine metabolism_Homo sapiens_hsa002301.46111768
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.33296674
24Pyruvate metabolism_Homo sapiens_hsa006201.31981867
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.12690571
26Epstein-Barr virus infection_Homo sapiens_hsa051691.12015991
27Systemic lupus erythematosus_Homo sapiens_hsa053221.01911853
28Herpes simplex infection_Homo sapiens_hsa051680.95841897
29Cysteine and methionine metabolism_Homo sapiens_hsa002700.92069870
30Antigen processing and presentation_Homo sapiens_hsa046120.88533609
31Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.86868960
32Fatty acid elongation_Homo sapiens_hsa000620.86222312
33Oocyte meiosis_Homo sapiens_hsa041140.81508371
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.81428674
35Folate biosynthesis_Homo sapiens_hsa007900.81111050
36Pentose phosphate pathway_Homo sapiens_hsa000300.81069014
37Protein export_Homo sapiens_hsa030600.77056486
38Viral carcinogenesis_Homo sapiens_hsa052030.76379687
39Propanoate metabolism_Homo sapiens_hsa006400.74781206
40Vitamin B6 metabolism_Homo sapiens_hsa007500.74741338
41Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.74083715
42Primary immunodeficiency_Homo sapiens_hsa053400.70078666
43Cyanoamino acid metabolism_Homo sapiens_hsa004600.67263508
44Biosynthesis of amino acids_Homo sapiens_hsa012300.67064381
45Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.66528039
46HTLV-I infection_Homo sapiens_hsa051660.66507545
47Steroid biosynthesis_Homo sapiens_hsa001000.64988287
48Selenocompound metabolism_Homo sapiens_hsa004500.64383931
49Drug metabolism - other enzymes_Homo sapiens_hsa009830.62285533
50Thyroid cancer_Homo sapiens_hsa052160.58197977
51Lysine degradation_Homo sapiens_hsa003100.57730948
52Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.57180407
53Sulfur relay system_Homo sapiens_hsa041220.55474859
54Huntingtons disease_Homo sapiens_hsa050160.53718767
55Legionellosis_Homo sapiens_hsa051340.50402281
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49571091
57Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49295042
58Transcriptional misregulation in cancer_Homo sapiens_hsa052020.48979786
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46372318
60Glutathione metabolism_Homo sapiens_hsa004800.44890057
61MicroRNAs in cancer_Homo sapiens_hsa052060.44106078
62Central carbon metabolism in cancer_Homo sapiens_hsa052300.43119609
63Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.42989235
64Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.41835455
65Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.41704742
66Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.40808927
67Measles_Homo sapiens_hsa051620.40554474
68Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.39877274
69Alzheimers disease_Homo sapiens_hsa050100.35493569
70Small cell lung cancer_Homo sapiens_hsa052220.34932522
71NF-kappa B signaling pathway_Homo sapiens_hsa040640.33871474
72Hematopoietic cell lineage_Homo sapiens_hsa046400.33550349
73TGF-beta signaling pathway_Homo sapiens_hsa043500.33301870
74Parkinsons disease_Homo sapiens_hsa050120.32970572
75Carbon metabolism_Homo sapiens_hsa012000.31196438
76Apoptosis_Homo sapiens_hsa042100.30590971
77Fatty acid metabolism_Homo sapiens_hsa012120.29097916
78Bladder cancer_Homo sapiens_hsa052190.28871425
79N-Glycan biosynthesis_Homo sapiens_hsa005100.28676646
80Alcoholism_Homo sapiens_hsa050340.26329624
81Hepatitis B_Homo sapiens_hsa051610.25594644
82Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.25089716
83Chronic myeloid leukemia_Homo sapiens_hsa052200.24613693
84Metabolic pathways_Homo sapiens_hsa011000.24182396
85Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.23638309
86Asthma_Homo sapiens_hsa053100.23097788
87Intestinal immune network for IgA production_Homo sapiens_hsa046720.22759747
88Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.22492029
89NOD-like receptor signaling pathway_Homo sapiens_hsa046210.22231110
90Galactose metabolism_Homo sapiens_hsa000520.22080778
91Colorectal cancer_Homo sapiens_hsa052100.21779193
92Fructose and mannose metabolism_Homo sapiens_hsa000510.21107416
93RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.21080402
94Notch signaling pathway_Homo sapiens_hsa043300.20125200
95Arachidonic acid metabolism_Homo sapiens_hsa005900.19911222
96Influenza A_Homo sapiens_hsa051640.19532032
97Basal cell carcinoma_Homo sapiens_hsa052170.18717120
98Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.17043405
99Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.16622405
100Hippo signaling pathway_Homo sapiens_hsa043900.15958938
101Allograft rejection_Homo sapiens_hsa053300.15903637
102Pancreatic cancer_Homo sapiens_hsa052120.15625029
103Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.15521157
104Pathways in cancer_Homo sapiens_hsa052000.13864208
105Shigellosis_Homo sapiens_hsa051310.12978110
106Prostate cancer_Homo sapiens_hsa052150.12564788
107HIF-1 signaling pathway_Homo sapiens_hsa040660.12478964
108Vitamin digestion and absorption_Homo sapiens_hsa049770.12455414
109Pentose and glucuronate interconversions_Homo sapiens_hsa000400.12337961
110Renin-angiotensin system_Homo sapiens_hsa046140.10846640
111Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.10694089
112Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.10505418
113Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.10190368
114Oxidative phosphorylation_Homo sapiens_hsa001900.09670416
115Sulfur metabolism_Homo sapiens_hsa009200.09512372
116Acute myeloid leukemia_Homo sapiens_hsa052210.08375385
117Jak-STAT signaling pathway_Homo sapiens_hsa046300.07608386
118Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.07592841
119Wnt signaling pathway_Homo sapiens_hsa043100.07486224
1202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.05191235
121Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.05013896
122Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.04883800
123Autoimmune thyroid disease_Homo sapiens_hsa053200.04740165
124Arginine and proline metabolism_Homo sapiens_hsa003300.04594741
125Viral myocarditis_Homo sapiens_hsa054160.03790767
126Non-small cell lung cancer_Homo sapiens_hsa052230.03085440

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