RFC1

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





Description: This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.01751890
2* DNA strand elongation involved in DNA replication (GO:0006271)4.97214475
3DNA replication initiation (GO:0006270)4.74906663
4* DNA strand elongation (GO:0022616)4.71896283
5nuclear pore organization (GO:0006999)4.69499620
6* telomere maintenance via semi-conservative replication (GO:0032201)4.61422490
7protein localization to kinetochore (GO:0034501)4.56618168
8nuclear pore complex assembly (GO:0051292)4.48230407
9regulation of centriole replication (GO:0046599)4.43029369
10mitotic metaphase plate congression (GO:0007080)4.38032597
11establishment of integrated proviral latency (GO:0075713)4.32394877
12* telomere maintenance via recombination (GO:0000722)4.31760425
13DNA replication checkpoint (GO:0000076)4.30545858
14* mitotic recombination (GO:0006312)4.28149849
15kinetochore organization (GO:0051383)4.27366855
16ribosomal small subunit assembly (GO:0000028)4.26214429
17chromatin remodeling at centromere (GO:0031055)4.23931224
18CENP-A containing nucleosome assembly (GO:0034080)4.18317043
19attachment of spindle microtubules to kinetochore (GO:0008608)4.14892750
20maturation of SSU-rRNA (GO:0030490)4.07294728
21metaphase plate congression (GO:0051310)4.01205694
22DNA replication-dependent nucleosome organization (GO:0034723)3.99924537
23DNA replication-dependent nucleosome assembly (GO:0006335)3.99924537
24protein localization to chromosome, centromeric region (GO:0071459)3.98517311
25DNA replication-independent nucleosome organization (GO:0034724)3.96444122
26DNA replication-independent nucleosome assembly (GO:0006336)3.96444122
27mitotic nuclear envelope disassembly (GO:0007077)3.94865857
28mitotic sister chromatid cohesion (GO:0007064)3.89496905
29nucleobase biosynthetic process (GO:0046112)3.87583871
30mitotic chromosome condensation (GO:0007076)3.86986724
31* telomere maintenance via telomere lengthening (GO:0010833)3.85653485
32mitotic sister chromatid segregation (GO:0000070)3.85323042
33* nucleotide-excision repair, DNA gap filling (GO:0006297)3.81347852
34IMP biosynthetic process (GO:0006188)3.75394996
35somatic hypermutation of immunoglobulin genes (GO:0016446)3.73775916
36somatic diversification of immune receptors via somatic mutation (GO:0002566)3.73775916
37replication fork processing (GO:0031297)3.71883748
38sister chromatid segregation (GO:0000819)3.68804259
39DNA ligation (GO:0006266)3.68118743
40meiotic chromosome segregation (GO:0045132)3.67377762
41membrane disassembly (GO:0030397)3.66569206
42nuclear envelope disassembly (GO:0051081)3.66569206
43purine nucleobase biosynthetic process (GO:0009113)3.64057999
44kinetochore assembly (GO:0051382)3.63721513
45pore complex assembly (GO:0046931)3.63110603
46histone exchange (GO:0043486)3.62512730
47establishment of chromosome localization (GO:0051303)3.62180114
48double-strand break repair via nonhomologous end joining (GO:0006303)3.61935873
49non-recombinational repair (GO:0000726)3.61935873
50regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.59816515
51regulation of spindle organization (GO:0090224)3.56217815
52formation of translation preinitiation complex (GO:0001731)3.55689627
53DNA geometric change (GO:0032392)3.54758355
54DNA duplex unwinding (GO:0032508)3.53516288
55regulation of centrosome duplication (GO:0010824)3.47509846
56regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.45882534
57positive regulation of chromosome segregation (GO:0051984)3.39853685
58ribosomal large subunit biogenesis (GO:0042273)3.37787839
59regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.37441787
60chromatin assembly or disassembly (GO:0006333)3.37233788
61protein K6-linked ubiquitination (GO:0085020)3.36946048
62IMP metabolic process (GO:0046040)3.33938759
63regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.31508128
64regulation of mitotic spindle checkpoint (GO:1903504)3.31508128
65regulation of histone H3-K9 methylation (GO:0051570)3.28943449
66viral transcription (GO:0019083)3.27395042
67spindle checkpoint (GO:0031577)3.26388817
68mitotic G2/M transition checkpoint (GO:0044818)3.25970712
69mismatch repair (GO:0006298)3.25635450
70translational termination (GO:0006415)3.25473674
71regulation of chromosome segregation (GO:0051983)3.24257504
72regulation of translational fidelity (GO:0006450)3.23452629
73ribosomal small subunit biogenesis (GO:0042274)3.22561306
74regulation of mitotic spindle organization (GO:0060236)3.22056612
75regulation of mitotic metaphase/anaphase transition (GO:0030071)3.22044534
76DNA topological change (GO:0006265)3.19694364
77regulation of sister chromatid cohesion (GO:0007063)3.19389744
78* telomere maintenance (GO:0000723)3.19270463
79centriole replication (GO:0007099)3.17593993
80* telomere organization (GO:0032200)3.17416491
81negative regulation of chromosome segregation (GO:0051985)3.17370902
82DNA double-strand break processing (GO:0000729)3.17218173
83positive regulation of histone H3-K4 methylation (GO:0051571)3.17179343
84spindle assembly checkpoint (GO:0071173)3.15882779
85regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.15544629
86negative regulation of mitotic sister chromatid separation (GO:2000816)3.15097497
87negative regulation of mitotic sister chromatid segregation (GO:0033048)3.15097497
88negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.15097497
89negative regulation of sister chromatid segregation (GO:0033046)3.15097497
90DNA conformation change (GO:0071103)3.15096978
91postreplication repair (GO:0006301)3.14769025
92heterochromatin organization (GO:0070828)3.14204110
93resolution of meiotic recombination intermediates (GO:0000712)3.14177901
94ribosome assembly (GO:0042255)3.12979195
95ribonucleoprotein complex biogenesis (GO:0022613)3.11546542
96regulation of DNA endoreduplication (GO:0032875)3.11291561
97folic acid-containing compound biosynthetic process (GO:0009396)3.10131728
98maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.09806187
99positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.09535007
100positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.09535007
101positive regulation of mitotic sister chromatid separation (GO:1901970)3.09535007
102chromosome segregation (GO:0007059)3.09206883
103mitotic spindle assembly checkpoint (GO:0007094)3.08364907
104mitotic spindle checkpoint (GO:0071174)3.07755801
105negative regulation of DNA-dependent DNA replication (GO:2000104)3.06970480
106negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.06890179
107ATP-dependent chromatin remodeling (GO:0043044)3.05815406
108regulation of centrosome cycle (GO:0046605)3.04862084
109SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.04680364
110regulation of mitotic sister chromatid separation (GO:0010965)3.03841923
111regulation of mitotic sister chromatid segregation (GO:0033047)3.03841923
112regulation of sister chromatid segregation (GO:0033045)3.03841923
113protein localization to chromosome (GO:0034502)3.03778603
114translesion synthesis (GO:0019985)3.03405497
115cotranslational protein targeting to membrane (GO:0006613)3.03373863
116regulation of nuclear cell cycle DNA replication (GO:0033262)3.03274984
117chromosome condensation (GO:0030261)3.02539584
118ribosome biogenesis (GO:0042254)3.01720396
119* transcription-coupled nucleotide-excision repair (GO:0006283)3.00046488
120establishment of viral latency (GO:0019043)2.97611422

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human4.92384562
2* E2F4_17652178_ChIP-ChIP_JURKAT_Human4.42583854
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.96951711
4FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.55046785
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.87155897
6MYC_19079543_ChIP-ChIP_MESCs_Mouse2.86479774
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.83374199
8* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.66981591
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.65567618
10AR_21909140_ChIP-Seq_LNCAP_Human2.52460144
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.43697982
12E2F1_21310950_ChIP-Seq_MCF-7_Human2.35911748
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.35617075
14MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.34104780
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.33352214
16NELFA_20434984_ChIP-Seq_ESCs_Mouse2.32689037
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.30751167
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.30725872
19* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.30186930
20XRN2_22483619_ChIP-Seq_HELA_Human2.18963705
21* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.17616091
22MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.16871430
23EGR1_19374776_ChIP-ChIP_THP-1_Human2.08214836
24HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.02168315
25VDR_23849224_ChIP-Seq_CD4+_Human2.00279859
26E2F7_22180533_ChIP-Seq_HELA_Human11.1026648
27FOXP3_21729870_ChIP-Seq_TREG_Human1.93200056
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.83663824
29E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.82070178
30* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.81650257
31DCP1A_22483619_ChIP-Seq_HELA_Human1.77321991
32* POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.75740926
33PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.72762419
34E2F1_18555785_ChIP-Seq_MESCs_Mouse1.71322377
35RBPJ_22232070_ChIP-Seq_NCS_Mouse1.68284301
36HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.68139955
37TTF2_22483619_ChIP-Seq_HELA_Human1.68010930
38ELK1_19687146_ChIP-ChIP_HELA_Human1.67222477
39YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66452866
40SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.64381095
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.58588067
42ELF1_17652178_ChIP-ChIP_JURKAT_Human1.58245225
43CIITA_25753668_ChIP-Seq_RAJI_Human1.54994921
44TP63_19390658_ChIP-ChIP_HaCaT_Human1.53552118
45HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.53397273
46GABP_19822575_ChIP-Seq_HepG2_Human1.52098579
47* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.51500459
48SALL1_21062744_ChIP-ChIP_HESCs_Human1.51010890
49* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.50185860
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49383454
51EWS_26573619_Chip-Seq_HEK293_Human1.48693648
52THAP11_20581084_ChIP-Seq_MESCs_Mouse1.44690903
53FUS_26573619_Chip-Seq_HEK293_Human1.39951375
54KDM5A_27292631_Chip-Seq_BREAST_Human1.38310296
55ZFX_18555785_ChIP-Seq_MESCs_Mouse1.37703565
56MYC_22102868_ChIP-Seq_BL_Human1.34411470
57TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.33533705
58ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.33114039
59PADI4_21655091_ChIP-ChIP_MCF-7_Human1.27397827
60SOX2_18555785_ChIP-Seq_MESCs_Mouse1.24537922
61NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.24515387
62SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.23805197
63ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.23262357
64FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.21730096
65ERG_20887958_ChIP-Seq_HPC-7_Mouse1.20306567
66SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.17981775
67POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.16089556
68E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.15438940
69POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.10560507
70STAT3_1855785_ChIP-Seq_MESCs_Mouse1.10468740
71YY1_21170310_ChIP-Seq_MESCs_Mouse1.09880338
72* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.07844555
73CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.05259242
74NANOG_16153702_ChIP-ChIP_HESCs_Human1.04671865
75IRF1_19129219_ChIP-ChIP_H3396_Human1.03755285
76SOX17_20123909_ChIP-Seq_XEN_Mouse1.03554605
77SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.02817601
78MYC_18940864_ChIP-ChIP_HL60_Human1.02587274
79SRF_21415370_ChIP-Seq_HL-1_Mouse1.02433366
80TFEB_21752829_ChIP-Seq_HELA_Human1.01967391
81* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.00224127
82* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.97589863
83SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.96701515
84* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.95448780
85FLI1_27457419_Chip-Seq_LIVER_Mouse0.95443254
86ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93187686
87FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.91805919
88SOX2_16153702_ChIP-ChIP_HESCs_Human0.91232970
89CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.90158653
90NANOG_21062744_ChIP-ChIP_HESCs_Human0.89878426
91KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.89534914
92KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.89534914
93KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.89534914
94POU5F1_16153702_ChIP-ChIP_HESCs_Human0.87610082
95HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.86968855
96SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.85570657
97POU3F2_20337985_ChIP-ChIP_501MEL_Human0.84589914
98CHD1_26751641_Chip-Seq_LNCaP_Human0.81811416
99* SPI1_23547873_ChIP-Seq_NB4_Human0.81305044
100CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.81034774
101* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.80492559
102NOTCH1_21737748_ChIP-Seq_TLL_Human0.80181976
103GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.79955611
104BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.78492081
105PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.78191582
106PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.78061228
107CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.77855234
108CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.77433261
109RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.77111120
110TCF3_18692474_ChIP-Seq_MEFs_Mouse0.76693367
111PCGF2_27294783_Chip-Seq_ESCs_Mouse0.74228303
112CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.73633488
113KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.72435259
114VDR_21846776_ChIP-Seq_THP-1_Human0.71671510
115RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.70076518
116ZNF274_21170338_ChIP-Seq_K562_Hela0.70005862
117ELK1_22589737_ChIP-Seq_MCF10A_Human0.69872778
118HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.67275942
119VDR_22108803_ChIP-Seq_LS180_Human0.65427701
120SOX9_26525672_Chip-Seq_HEART_Mouse0.60792028
121TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.59945230
122FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.59531563

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.03188188
2MP0003693_abnormal_embryo_hatching4.75133890
3MP0008057_abnormal_DNA_replication4.40592974
4MP0003111_abnormal_nucleus_morphology4.34951291
5MP0004957_abnormal_blastocyst_morpholog4.03182847
6MP0003077_abnormal_cell_cycle3.84992469
7MP0008058_abnormal_DNA_repair3.24863182
8MP0008877_abnormal_DNA_methylation3.00723789
9MP0008007_abnormal_cellular_replicative2.69766588
10MP0003123_paternal_imprinting2.47864842
11MP0008932_abnormal_embryonic_tissue2.46002063
12MP0002396_abnormal_hematopoietic_system2.45408925
13MP0010352_gastrointestinal_tract_polyps2.24991739
14MP0009697_abnormal_copulation2.21800846
15MP0001730_embryonic_growth_arrest2.21399930
16MP0000350_abnormal_cell_proliferation2.14713609
17MP0003786_premature_aging2.02738669
18MP0010307_abnormal_tumor_latency1.99249475
19MP0003121_genomic_imprinting1.80434676
20MP0001672_abnormal_embryogenesis/_devel1.73014765
21MP0005380_embryogenesis_phenotype1.73014765
22MP0004808_abnormal_hematopoietic_stem1.69013801
23MP0001697_abnormal_embryo_size1.65654270
24MP0003567_abnormal_fetal_cardiomyocyte1.59757794
25MP0003984_embryonic_growth_retardation1.56056488
26MP0002088_abnormal_embryonic_growth/wei1.52150609
27MP0002085_abnormal_embryonic_tissue1.52095257
28MP0002084_abnormal_developmental_patter1.50525171
29MP0002009_preneoplasia1.46592533
30MP0002080_prenatal_lethality1.44599603
31MP0002210_abnormal_sex_determination1.40608611
32MP0004197_abnormal_fetal_growth/weight/1.40419520
33MP0010030_abnormal_orbit_morphology1.40061586
34MP0000490_abnormal_crypts_of1.39429356
35MP0002086_abnormal_extraembryonic_tissu1.35916355
36MP0002019_abnormal_tumor_incidence1.32075209
37MP0000313_abnormal_cell_death1.29683947
38MP0003941_abnormal_skin_development1.27370866
39MP0003315_abnormal_perineum_morphology1.27250657
40MP0001293_anophthalmia1.27074291
41MP0003890_abnormal_embryonic-extraembry1.22731406
42MP0001145_abnormal_male_reproductive1.19406618
43MP0003937_abnormal_limbs/digits/tail_de1.17579192
44MP0001929_abnormal_gametogenesis1.16955418
45MP0006072_abnormal_retinal_apoptosis1.15011533
46MP0005408_hypopigmentation1.12978079
47MP0005397_hematopoietic_system_phenotyp1.07299803
48MP0001545_abnormal_hematopoietic_system1.07299803
49MP0000537_abnormal_urethra_morphology1.06677161
50MP0003950_abnormal_plasma_membrane1.04734001
51MP0002233_abnormal_nose_morphology1.04640521
52MP0000653_abnormal_sex_gland1.03792542
53MP0003718_maternal_effect1.02829849
54MP0005076_abnormal_cell_differentiation1.01843256
55MP0000703_abnormal_thymus_morphology0.99482317
56MP0003787_abnormal_imprinting0.97870708
57MP0000566_synostosis0.96941090
58MP0002163_abnormal_gland_morphology0.96652332
59MP0003763_abnormal_thymus_physiology0.95245648
60MP0000647_abnormal_sebaceous_gland0.94018661
61MP0009672_abnormal_birth_weight0.93778956
62MP0002234_abnormal_pharynx_morphology0.93301624
63MP0005187_abnormal_penis_morphology0.93199569
64MP0003385_abnormal_body_wall0.90673501
65MP0002398_abnormal_bone_marrow0.90664377
66MP0006035_abnormal_mitochondrial_morpho0.90458852
67MP0003943_abnormal_hepatobiliary_system0.89822595
68MP0000358_abnormal_cell_content/0.89536764
69MP0002160_abnormal_reproductive_system0.89313407
70MP0006292_abnormal_olfactory_placode0.88869105
71MP0009053_abnormal_anal_canal0.86208445
72MP0008789_abnormal_olfactory_epithelium0.85670243
73MP0003136_yellow_coat_color0.85617889
74MP0002722_abnormal_immune_system0.84023754
75MP0001119_abnormal_female_reproductive0.83663564
76MP0009703_decreased_birth_body0.82398417
77MP0000631_abnormal_neuroendocrine_gland0.82196810
78MP0003861_abnormal_nervous_system0.80531230
79MP0000689_abnormal_spleen_morphology0.80509807
80MP0009278_abnormal_bone_marrow0.79210563
81MP0004133_heterotaxia0.77277577
82MP0001661_extended_life_span0.77272067
83MP0002166_altered_tumor_susceptibility0.77026193
84MP0002095_abnormal_skin_pigmentation0.75547100
85MP0001286_abnormal_eye_development0.75438714
86MP0005391_vision/eye_phenotype0.75122760
87MP0002938_white_spotting0.74695718
88MP0002111_abnormal_tail_morphology0.74155723
89MP0002006_tumorigenesis0.73382909
90MP0005395_other_phenotype0.72351210
91MP0003119_abnormal_digestive_system0.72036153
92MP0006054_spinal_hemorrhage0.71937606
93MP0005384_cellular_phenotype0.71784979
94MP0001346_abnormal_lacrimal_gland0.70256737
95MP0009333_abnormal_splenocyte_physiolog0.70147383
96MP0005389_reproductive_system_phenotype0.70058426
97MP0003122_maternal_imprinting0.69924836
98MP0005621_abnormal_cell_physiology0.69867689
99MP0001529_abnormal_vocalization0.69060950
100MP0002092_abnormal_eye_morphology0.68939375
101MP0000427_abnormal_hair_cycle0.68769351
102MP0000432_abnormal_head_morphology0.68393719
103MP0000428_abnormal_craniofacial_morphol0.68092776
104MP0003936_abnormal_reproductive_system0.67910886
105MP0001915_intracranial_hemorrhage0.67631138
106MP0005379_endocrine/exocrine_gland_phen0.67450998
107MP0001299_abnormal_eye_distance/0.67176745
108MP0008995_early_reproductive_senescence0.67010098
109MP0005394_taste/olfaction_phenotype0.66623210
110MP0005499_abnormal_olfactory_system0.66623210
111MP0002429_abnormal_blood_cell0.66485543
112MP0003699_abnormal_female_reproductive0.65828586
113MP0009379_abnormal_foot_pigmentation0.64735688
114MP0003698_abnormal_male_reproductive0.64600209
115MP0002075_abnormal_coat/hair_pigmentati0.63957524
116MP0003942_abnormal_urinary_system0.63147126
117MP0004264_abnormal_extraembryonic_tissu0.62202815
118MP0004185_abnormal_adipocyte_glucose0.61827771
119MP0003566_abnormal_cell_adhesion0.61386294
120MP0005023_abnormal_wound_healing0.60383116
121MP0003755_abnormal_palate_morphology0.60351965
122MP0009250_abnormal_appendicular_skeleto0.59498122
123MP0000858_altered_metastatic_potential0.59058012
124MP0003115_abnormal_respiratory_system0.58840546
125MP0003935_abnormal_craniofacial_develop0.58535119
126MP0002132_abnormal_respiratory_system0.58287876
127MP0005174_abnormal_tail_pigmentation0.56116249
128MP0000716_abnormal_immune_system0.56100689
129MP0002697_abnormal_eye_size0.56041924
130MP0000477_abnormal_intestine_morphology0.53477892
131MP0002925_abnormal_cardiovascular_devel0.53025616
132MP0000383_abnormal_hair_follicle0.52773108

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)5.03626676
2Chromosomal breakage induced by crosslinking agents (HP:0003221)4.48695030
3Birth length less than 3rd percentile (HP:0003561)4.36758851
4Reticulocytopenia (HP:0001896)4.18838175
5Colon cancer (HP:0003003)3.93586687
6Abnormality of chromosome stability (HP:0003220)3.88147036
7Selective tooth agenesis (HP:0001592)3.56405452
8Meckel diverticulum (HP:0002245)3.47282104
9Abnormality of the preputium (HP:0100587)3.46979142
10Abnormality of the ileum (HP:0001549)3.25386337
1111 pairs of ribs (HP:0000878)3.18084882
12Medulloblastoma (HP:0002885)3.14940899
13Aplasia/Hypoplasia of the uvula (HP:0010293)3.12630723
14Volvulus (HP:0002580)3.11445893
15Breast hypoplasia (HP:0003187)3.06862612
16Myelodysplasia (HP:0002863)2.99415196
17Patellar aplasia (HP:0006443)2.92642875
18Ependymoma (HP:0002888)2.89946561
19Impulsivity (HP:0100710)2.88212907
20Abnormality of cells of the erythroid lineage (HP:0012130)2.87065771
21Small intestinal stenosis (HP:0012848)2.84222812
22Duodenal stenosis (HP:0100867)2.84222812
23Absent thumb (HP:0009777)2.81043938
24Ectopic kidney (HP:0000086)2.80607157
25Absent radius (HP:0003974)2.73866205
26Increased nuchal translucency (HP:0010880)2.73142065
27Aplasia/Hypoplasia of the patella (HP:0006498)2.72519560
28Abnormal number of erythroid precursors (HP:0012131)2.61769470
29Duplicated collecting system (HP:0000081)2.61708110
30Agnosia (HP:0010524)2.59197912
31Thrombocytosis (HP:0001894)2.58770550
32Abnormal lung lobation (HP:0002101)2.58080409
33Aplasia involving forearm bones (HP:0009822)2.55854486
34Absent forearm bone (HP:0003953)2.55854486
35Nephroblastoma (Wilms tumor) (HP:0002667)2.50943306
36Sloping forehead (HP:0000340)2.50772375
37Abnormality of the labia minora (HP:0012880)2.50754637
38Proximal placement of thumb (HP:0009623)2.47623441
39Bone marrow hypocellularity (HP:0005528)2.46772135
40Abnormal number of incisors (HP:0011064)2.44724494
41Deviation of the thumb (HP:0009603)2.42618480
42Neoplasm of the pancreas (HP:0002894)2.41233349
43Degeneration of anterior horn cells (HP:0002398)2.39199237
44Abnormality of the anterior horn cell (HP:0006802)2.39199237
45Facial hemangioma (HP:0000329)2.38896226
46Abnormality of the renal collecting system (HP:0004742)2.38713000
47Oral leukoplakia (HP:0002745)2.37012783
48Supernumerary spleens (HP:0009799)2.36033980
49Rhabdomyosarcoma (HP:0002859)2.35981846
50Atresia of the external auditory canal (HP:0000413)2.34661550
51Embryonal renal neoplasm (HP:0011794)2.34133969
52Abnormality of the carotid arteries (HP:0005344)2.33112421
53Missing ribs (HP:0000921)2.32512430
54Abnormality of the duodenum (HP:0002246)2.31352122
55Amaurosis fugax (HP:0100576)2.28348357
56Increased hepatocellular lipid droplets (HP:0006565)2.28162973
57Abnormality of cochlea (HP:0000375)2.27576911
58Aplastic anemia (HP:0001915)2.25724301
59Triphalangeal thumb (HP:0001199)2.22747987
60Neoplasm of the oral cavity (HP:0100649)2.21891443
61Clubbing of toes (HP:0100760)2.20010235
62Overlapping toe (HP:0001845)2.18690786
63Biliary tract neoplasm (HP:0100574)2.17254958
64Aplasia/Hypoplasia of the sternum (HP:0006714)2.16861994
65Asplenia (HP:0001746)2.15685749
66Short thumb (HP:0009778)2.13949763
67Premature graying of hair (HP:0002216)2.12850421
68Macrocytic anemia (HP:0001972)2.11550212
69Neoplasm of the colon (HP:0100273)2.10586774
70Microretrognathia (HP:0000308)2.09801990
71Tracheoesophageal fistula (HP:0002575)2.09242464
72Horseshoe kidney (HP:0000085)2.08162018
73Abnormality of DNA repair (HP:0003254)2.07743553
74Squamous cell carcinoma (HP:0002860)2.07251508
75Cafe-au-lait spot (HP:0000957)2.06726452
76Basal cell carcinoma (HP:0002671)2.05684990
77Short 4th metacarpal (HP:0010044)2.02786916
78Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.02786916
79Lipid accumulation in hepatocytes (HP:0006561)2.02628398
80Stenosis of the external auditory canal (HP:0000402)2.01394863
81Pallor (HP:0000980)2.01220247
82Carpal bone hypoplasia (HP:0001498)2.00672752
83Rough bone trabeculation (HP:0100670)1.99970485
84Acute myeloid leukemia (HP:0004808)1.99092701
85Deep philtrum (HP:0002002)1.97413048
86Astrocytoma (HP:0009592)1.96847895
87Abnormality of the astrocytes (HP:0100707)1.96847895
88Aplasia/Hypoplasia of the spleen (HP:0010451)1.96186444
89Abnormality of the fingertips (HP:0001211)1.95988693
90Capillary hemangiomas (HP:0005306)1.94596129
91Prominent nose (HP:0000448)1.93069274
92Glioma (HP:0009733)1.91543532
93Lymphoma (HP:0002665)1.91210244
94Cellular immunodeficiency (HP:0005374)1.89581958
95Abnormality of methionine metabolism (HP:0010901)1.88170724
96Abnormal spermatogenesis (HP:0008669)1.87972160
97Embryonal neoplasm (HP:0002898)1.86812704
98Neoplasm of the adrenal cortex (HP:0100641)1.86225727
99Cutaneous melanoma (HP:0012056)1.85701618
100High pitched voice (HP:0001620)1.85495664
101Abnormality of chromosome segregation (HP:0002916)1.79185282
102Arteriovenous malformation (HP:0100026)1.78169263
103Hypoplasia of the radius (HP:0002984)1.77973597
104Aplasia/Hypoplasia of the sacrum (HP:0008517)1.77779147
105Duplication of thumb phalanx (HP:0009942)1.76816285
106Hepatoblastoma (HP:0002884)1.76263558
107Oligodactyly (hands) (HP:0001180)1.76261760
108Hypoplasia of the capital femoral epiphysis (HP:0003090)1.74752673
109Long eyelashes (HP:0000527)1.74075846
110Pancytopenia (HP:0001876)1.73739730
111Diastasis recti (HP:0001540)1.73397574
112Acute necrotizing encephalopathy (HP:0006965)1.73266512
113Choanal atresia (HP:0000453)1.73058551
114Lip pit (HP:0100267)1.72595788
115Acute encephalopathy (HP:0006846)1.71620384
116Irregular epiphyses (HP:0010582)1.69419950
117Multiple enchondromatosis (HP:0005701)1.66782116
118Abnormality of the septum pellucidum (HP:0007375)1.66695542
119Facial cleft (HP:0002006)1.64377337
120Aplasia/Hypoplasia of the earlobes (HP:0009906)1.63046841
121Septo-optic dysplasia (HP:0100842)1.60601797
122Neoplasm of striated muscle (HP:0009728)1.59673099
123Megaloblastic anemia (HP:0001889)1.57826726
124Morphological abnormality of the inner ear (HP:0011390)1.56820056
125Cerebral edema (HP:0002181)1.56259550
126Bifid tongue (HP:0010297)1.55707363
127Cortical dysplasia (HP:0002539)1.55018876
128Oligodactyly (HP:0012165)1.54467275
129Pancreatic islet-cell hyperplasia (HP:0004510)1.54274173
130Abnormal mitochondria in muscle tissue (HP:0008316)1.52451097
131Rib fusion (HP:0000902)1.51555812
132Papillary thyroid carcinoma (HP:0002895)1.50993541
133Hypoplastic pelvis (HP:0008839)1.49450024
134Neoplasm of the small intestine (HP:0100833)1.48021855
135Microvesicular hepatic steatosis (HP:0001414)1.47768187
136High anterior hairline (HP:0009890)1.46770463

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.00743354
2WEE13.94277466
3BUB13.93879747
4NEK23.12640902
5TTK2.84692711
6NEK12.78827465
7SRPK12.62533754
8CDK122.43524783
9TSSK62.40957830
10BRSK22.29252867
11EIF2AK12.29251057
12MKNK12.27101686
13PLK12.15030232
14PASK2.10156827
15ACVR1B2.04410994
16ATR2.00270992
17PLK41.95606374
18AURKB1.85965906
19PLK31.82439895
20MKNK21.79001933
21CHEK21.74305522
22RPS6KB21.71841325
23CDK71.69873118
24TAF11.63666078
25VRK11.57325469
26EEF2K1.52200829
27VRK21.49441994
28STK41.49205942
29CDK41.48499754
30CHEK11.46227765
31TNIK1.45797890
32TLK11.45500277
33ZAK1.34373257
34BMPR1B1.33976747
35STK101.33794685
36EIF2AK31.31734109
37BRSK11.25595519
38TRIM281.24607756
39MAP3K81.23305750
40NME21.22217312
41CLK11.20911999
42BRD41.19359046
43ATM1.19253539
44TGFBR11.16207103
45CCNB11.15574703
46WNK31.13734785
47PBK1.10891909
48MELK1.09373516
49STK161.04582369
50NME11.00920088
51CDK20.99111730
52CDK80.98297575
53STK30.98117776
54AURKA0.97820803
55BCR0.97539485
56RPS6KA40.94941021
57CDK60.94253158
58DYRK30.91559580
59PLK20.88788968
60PIM10.87049309
61CAMK1G0.85036519
62FLT30.84154329
63STK38L0.79329025
64* CDK10.78068259
65MAP4K10.75783155
66PNCK0.74823316
67STK240.74810425
68TESK20.73528927
69NEK90.73288585
70MST40.72666366
71ALK0.70968516
72NUAK10.70693231
73* CSNK2A20.69621452
74EIF2AK20.67330090
75PAK40.67098935
76SCYL20.67029052
77CAMK1D0.65568065
78FGFR20.64987436
79LRRK20.63105940
80ERBB40.62876144
81CSNK2A10.62073414
82EPHA20.61584893
83PDK40.61371889
84PDK30.61371889
85NLK0.58871334
86PRKCI0.58170475
87TRPM70.55527358
88CDK30.55482178
89WNK40.51917090
90CDK90.50709785
91BTK0.50168325
92MAP3K40.49007335
93PKN20.48794586
94* PRKDC0.46579151
95LATS10.45488773
96TYRO30.43401178
97MAP3K100.43343006
98MAP2K30.43124340
99TEC0.43012389
100RPS6KA50.41938965
101MTOR0.41892651
102CSNK1G10.41769110
103CSF1R0.40830798
104PAK10.39460277
105MAPK140.37785099
106CSNK1E0.37310949
107YES10.36211422
108STK390.36050164
109WNK10.35819157
110AKT30.35647878
111MET0.35169220
112FGFR10.34557974
113RPS6KB10.33206446
114* CSNK1D0.31857580
115PRKACB0.31085307
116AKT10.30444425
117AKT20.29931088
118JAK30.27305374
119ERBB30.27156134
120BRAF0.26911086
121SMG10.26243905
122DYRK20.25568899
123MAPK10.24622091
124DMPK0.24266235
125GSK3B0.22590786
126RPS6KC10.21726529
127RPS6KL10.21726529
128KIT0.19998632
129PAK20.18571744

Predicted pathways (KEGG)

RankGene SetZ-score
1* DNA replication_Homo sapiens_hsa030305.27471282
2* Mismatch repair_Homo sapiens_hsa034304.67630861
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.55802186
4Homologous recombination_Homo sapiens_hsa034403.46826347
5Base excision repair_Homo sapiens_hsa034103.30274685
6Spliceosome_Homo sapiens_hsa030403.18145701
7RNA transport_Homo sapiens_hsa030133.11239350
8Ribosome_Homo sapiens_hsa030103.10197553
9Cell cycle_Homo sapiens_hsa041103.09250415
10* Nucleotide excision repair_Homo sapiens_hsa034203.00113690
11RNA polymerase_Homo sapiens_hsa030202.94618918
12Fanconi anemia pathway_Homo sapiens_hsa034602.84247830
13Non-homologous end-joining_Homo sapiens_hsa034502.68024382
14One carbon pool by folate_Homo sapiens_hsa006702.64122581
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.27013418
16Pyrimidine metabolism_Homo sapiens_hsa002402.26398427
17Proteasome_Homo sapiens_hsa030502.22236108
18RNA degradation_Homo sapiens_hsa030182.19516511
19Basal transcription factors_Homo sapiens_hsa030222.05753844
20mRNA surveillance pathway_Homo sapiens_hsa030151.95028967
21p53 signaling pathway_Homo sapiens_hsa041151.57956552
22Propanoate metabolism_Homo sapiens_hsa006401.41423963
23Systemic lupus erythematosus_Homo sapiens_hsa053221.30039477
24Purine metabolism_Homo sapiens_hsa002301.24281177
25Pyruvate metabolism_Homo sapiens_hsa006201.13912752
26Epstein-Barr virus infection_Homo sapiens_hsa051691.13511591
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.06662082
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.06547431
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05701427
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04751080
31Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.03621894
32Herpes simplex infection_Homo sapiens_hsa051681.03251340
33Viral carcinogenesis_Homo sapiens_hsa052031.01867229
34Oocyte meiosis_Homo sapiens_hsa041141.00005937
35Oxidative phosphorylation_Homo sapiens_hsa001900.99195607
36Steroid biosynthesis_Homo sapiens_hsa001000.96521397
37Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.95356240
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.93775129
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.91772072
40Antigen processing and presentation_Homo sapiens_hsa046120.90448283
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.89984316
42Parkinsons disease_Homo sapiens_hsa050120.86181693
43Pentose and glucuronate interconversions_Homo sapiens_hsa000400.85319939
44Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.84907818
45HTLV-I infection_Homo sapiens_hsa051660.82497911
46MicroRNAs in cancer_Homo sapiens_hsa052060.82458277
47Pentose phosphate pathway_Homo sapiens_hsa000300.78537024
48Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.72395250
49Selenocompound metabolism_Homo sapiens_hsa004500.69134538
50Small cell lung cancer_Homo sapiens_hsa052220.68393987
51Transcriptional misregulation in cancer_Homo sapiens_hsa052020.68171454
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.68155578
53Primary immunodeficiency_Homo sapiens_hsa053400.65706460
54Vitamin B6 metabolism_Homo sapiens_hsa007500.60947066
55Thyroid cancer_Homo sapiens_hsa052160.59975691
56Cyanoamino acid metabolism_Homo sapiens_hsa004600.59581300
57Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.59500809
58Drug metabolism - other enzymes_Homo sapiens_hsa009830.59468480
59Biosynthesis of amino acids_Homo sapiens_hsa012300.57507387
60TGF-beta signaling pathway_Homo sapiens_hsa043500.55350764
61Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54134949
62Basal cell carcinoma_Homo sapiens_hsa052170.52278002
63Fatty acid metabolism_Homo sapiens_hsa012120.49970975
64Fatty acid elongation_Homo sapiens_hsa000620.48779467
65Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.48758686
66NF-kappa B signaling pathway_Homo sapiens_hsa040640.45070152
67Notch signaling pathway_Homo sapiens_hsa043300.45037204
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.44580901
69Glutathione metabolism_Homo sapiens_hsa004800.43714221
702-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.43661944
71Alcoholism_Homo sapiens_hsa050340.43424454
72Hippo signaling pathway_Homo sapiens_hsa043900.42813642
73Protein export_Homo sapiens_hsa030600.42762084
74Cysteine and methionine metabolism_Homo sapiens_hsa002700.41751282
75Alzheimers disease_Homo sapiens_hsa050100.41423487
76Caffeine metabolism_Homo sapiens_hsa002320.40655580
77Measles_Homo sapiens_hsa051620.40233532
78Lysine degradation_Homo sapiens_hsa003100.39939832
79Legionellosis_Homo sapiens_hsa051340.36260813
80Butanoate metabolism_Homo sapiens_hsa006500.35998005
81Pathways in cancer_Homo sapiens_hsa052000.35981033
82Adherens junction_Homo sapiens_hsa045200.35894846
83Hepatitis B_Homo sapiens_hsa051610.34954170
84Retinol metabolism_Homo sapiens_hsa008300.34459978
85Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.34079871
86Peroxisome_Homo sapiens_hsa041460.33760579
87Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.33380788
88Hedgehog signaling pathway_Homo sapiens_hsa043400.32767176
89Huntingtons disease_Homo sapiens_hsa050160.32209412
90Fatty acid degradation_Homo sapiens_hsa000710.31522557
91Prostate cancer_Homo sapiens_hsa052150.31218244
92Apoptosis_Homo sapiens_hsa042100.30978174
93Hematopoietic cell lineage_Homo sapiens_hsa046400.30909468
94Influenza A_Homo sapiens_hsa051640.30758301
95Intestinal immune network for IgA production_Homo sapiens_hsa046720.30367983
96Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.30110522
97Steroid hormone biosynthesis_Homo sapiens_hsa001400.28982203
98Colorectal cancer_Homo sapiens_hsa052100.28962369
99NOD-like receptor signaling pathway_Homo sapiens_hsa046210.28639778
100Viral myocarditis_Homo sapiens_hsa054160.27250951
101Carbon metabolism_Homo sapiens_hsa012000.26548183
102Folate biosynthesis_Homo sapiens_hsa007900.25694963
103HIF-1 signaling pathway_Homo sapiens_hsa040660.25403219
104Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.25029592
105Maturity onset diabetes of the young_Homo sapiens_hsa049500.24540024
106Chronic myeloid leukemia_Homo sapiens_hsa052200.23533523
107Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.22983781
108Bladder cancer_Homo sapiens_hsa052190.21077338
109Arachidonic acid metabolism_Homo sapiens_hsa005900.21058908
110Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.19868557
111Leukocyte transendothelial migration_Homo sapiens_hsa046700.18978284
112Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.18368765
113Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17991264
114Pancreatic cancer_Homo sapiens_hsa052120.16699933
115Fructose and mannose metabolism_Homo sapiens_hsa000510.16400142
116Circadian rhythm_Homo sapiens_hsa047100.16359811
117Non-small cell lung cancer_Homo sapiens_hsa052230.16060947
118N-Glycan biosynthesis_Homo sapiens_hsa005100.15517537
119Central carbon metabolism in cancer_Homo sapiens_hsa052300.15469320
120PI3K-Akt signaling pathway_Homo sapiens_hsa041510.15212869
121Melanoma_Homo sapiens_hsa052180.14453147
122Wnt signaling pathway_Homo sapiens_hsa043100.14082584
123beta-Alanine metabolism_Homo sapiens_hsa004100.13971112
124Tight junction_Homo sapiens_hsa045300.13808120
125Arginine and proline metabolism_Homo sapiens_hsa003300.13419451
126Jak-STAT signaling pathway_Homo sapiens_hsa046300.12807051
127Fatty acid biosynthesis_Homo sapiens_hsa000610.12501365
128Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.12086067
129Linoleic acid metabolism_Homo sapiens_hsa005910.11979128
130Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.11019889
131Vitamin digestion and absorption_Homo sapiens_hsa049770.10949067
132B cell receptor signaling pathway_Homo sapiens_hsa046620.10476724
133Starch and sucrose metabolism_Homo sapiens_hsa005000.09838164
134Tyrosine metabolism_Homo sapiens_hsa003500.09757196
135FoxO signaling pathway_Homo sapiens_hsa040680.08939747
136Chemical carcinogenesis_Homo sapiens_hsa052040.08442539
137Metabolic pathways_Homo sapiens_hsa011000.08173775

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