SGO1

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 protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1kinetochore organization (GO:0051383)6.18580865
2CENP-A containing nucleosome assembly (GO:0034080)6.12984479
3chromatin remodeling at centromere (GO:0031055)6.04457567
4protein localization to kinetochore (GO:0034501)6.02998161
5mitotic sister chromatid segregation (GO:0000070)5.99234600
6mitotic metaphase plate congression (GO:0007080)5.89572621
7sister chromatid segregation (GO:0000819)5.85164391
8kinetochore assembly (GO:0051382)5.55612002
9metaphase plate congression (GO:0051310)5.44688503
10protein localization to chromosome, centromeric region (GO:0071459)5.37032475
11DNA ligation (GO:0006266)5.18989042
12regulation of attachment of spindle microtubules to kinetochore (GO:0051988)5.10547485
13histone exchange (GO:0043486)5.10115840
14mitotic chromosome condensation (GO:0007076)5.02045072
15DNA replication-independent nucleosome assembly (GO:0006336)4.80825141
16DNA replication-independent nucleosome organization (GO:0034724)4.80825141
17establishment of chromosome localization (GO:0051303)4.59639960
18DNA replication checkpoint (GO:0000076)4.59530084
19spindle checkpoint (GO:0031577)4.55159840
20DNA topological change (GO:0006265)4.49588995
21regulation of spindle organization (GO:0090224)4.45767758
22telomere maintenance via semi-conservative replication (GO:0032201)4.36445578
23negative regulation of chromosome segregation (GO:0051985)4.30175579
24DNA strand elongation involved in DNA replication (GO:0006271)4.29504106
25negative regulation of mitotic metaphase/anaphase transition (GO:0045841)4.28040856
26negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)4.28040856
27negative regulation of mitotic sister chromatid segregation (GO:0033048)4.28040856
28negative regulation of mitotic sister chromatid separation (GO:2000816)4.28040856
29negative regulation of sister chromatid segregation (GO:0033046)4.28040856
30mitotic spindle checkpoint (GO:0071174)4.22488000
31regulation of chromosome segregation (GO:0051983)4.20928036
32microtubule depolymerization (GO:0007019)4.19946418
33attachment of spindle microtubules to kinetochore (GO:0008608)4.15873776
34DNA strand elongation (GO:0022616)4.12218921
35regulation of metaphase/anaphase transition of cell cycle (GO:1902099)4.11770406
36regulation of mitotic metaphase/anaphase transition (GO:0030071)4.11770406
37mitotic spindle assembly checkpoint (GO:0007094)4.11561430
38spindle assembly checkpoint (GO:0071173)4.07497130
39regulation of mitotic spindle organization (GO:0060236)4.04494029
40chromosome segregation (GO:0007059)4.04172250
41mitotic recombination (GO:0006312)4.04160942
42regulation of mitotic sister chromatid separation (GO:0010965)4.01310337
43regulation of mitotic sister chromatid segregation (GO:0033047)4.01310337
44regulation of sister chromatid segregation (GO:0033045)4.01310337
45meiotic chromosome segregation (GO:0045132)3.98542679
46mitotic G2/M transition checkpoint (GO:0044818)3.90301541
47telomere maintenance via recombination (GO:0000722)3.86713353
48centriole replication (GO:0007099)3.85826262
49DNA double-strand break processing (GO:0000729)3.85148730
50regulation of centriole replication (GO:0046599)3.84476958
51establishment of integrated proviral latency (GO:0075713)3.76138688
52replication fork processing (GO:0031297)3.71882303
53chromosome condensation (GO:0030261)3.70218250
54negative regulation of DNA-dependent DNA replication (GO:2000104)3.69867193
55resolution of meiotic recombination intermediates (GO:0000712)3.68971548
56protein K6-linked ubiquitination (GO:0085020)3.67292440
57regulation of DNA endoreduplication (GO:0032875)3.66364795
58protein localization to chromosome (GO:0034502)3.65005419
59anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.62849700
60mitotic sister chromatid cohesion (GO:0007064)3.61741427
61DNA unwinding involved in DNA replication (GO:0006268)3.58702053
62positive regulation of chromosome segregation (GO:0051984)3.57444772
63proteasome assembly (GO:0043248)3.57373453
64mitotic nuclear envelope disassembly (GO:0007077)3.53190697
65negative regulation of mitosis (GO:0045839)3.49233564
66regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.47078691
67DNA replication-dependent nucleosome assembly (GO:0006335)3.45599986
68DNA replication-dependent nucleosome organization (GO:0034723)3.45599986
69regulation of centrosome cycle (GO:0046605)3.44826610
70ATP-dependent chromatin remodeling (GO:0043044)3.40130385
71nucleotide-excision repair, DNA gap filling (GO:0006297)3.40032462
72maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.37659720
73regulation of mitotic spindle checkpoint (GO:1903504)3.36413338
74regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.36413338
75negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.35684427
76chromatin assembly or disassembly (GO:0006333)3.34144900
77positive regulation of mitotic sister chromatid separation (GO:1901970)3.33670012
78positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.33670012
79positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.33670012
80mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.33462347
81mitotic G2 DNA damage checkpoint (GO:0007095)3.32262400
82DNA packaging (GO:0006323)3.32088986
83membrane disassembly (GO:0030397)3.21482172
84nuclear envelope disassembly (GO:0051081)3.21482172
85microtubule polymerization or depolymerization (GO:0031109)3.19305560
86regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.17302866
87mitotic cell cycle (GO:0000278)3.17048918
88histone-serine phosphorylation (GO:0035404)3.15446775
89telomere maintenance via telomere lengthening (GO:0010833)3.14495564
90positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.13903944
91mitotic spindle organization (GO:0007052)3.11261150
92ventricular cardiac muscle cell development (GO:0055015)3.10372930
93synapsis (GO:0007129)3.08026119
94negative regulation of cell division (GO:0051782)3.07526779
95nuclear pore complex assembly (GO:0051292)3.07351075
96DNA catabolic process, exonucleolytic (GO:0000738)3.04031534
97negative regulation of nuclear division (GO:0051784)3.03500190
98establishment of protein localization to mitochondrial membrane (GO:0090151)3.01754073
99negative regulation of ligase activity (GO:0051352)3.00555771
100negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.00555771

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human7.44484606
2E2F7_22180533_ChIP-Seq_HELA_Human7.42371973
3E2F4_17652178_ChIP-ChIP_JURKAT_Human5.32573512
4FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human4.88046233
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.64604094
6MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.41624988
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.34009353
8GABP_17652178_ChIP-ChIP_JURKAT_Human3.22929951
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.22065064
10AR_21909140_ChIP-Seq_LNCAP_Human3.08899417
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.87161125
12CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.69817871
13E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.67146271
14ELK1_19687146_ChIP-ChIP_HELA_Human2.54905429
15HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.51791127
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.44285693
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.34951804
18E2F1_21310950_ChIP-Seq_MCF-7_Human2.29702802
19ETS1_20019798_ChIP-Seq_JURKAT_Human2.28191520
20MYC_19030024_ChIP-ChIP_MESCs_Mouse2.28182930
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.25425405
22HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.23735924
23MYC_18358816_ChIP-ChIP_MESCs_Mouse2.10238272
24SALL1_21062744_ChIP-ChIP_HESCs_Human2.09851190
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.09550888
26KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.04038016
27VDR_23849224_ChIP-Seq_CD4+_Human1.98445620
28MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.96514979
29FOXP3_21729870_ChIP-Seq_TREG_Human1.95906922
30NELFA_20434984_ChIP-Seq_ESCs_Mouse1.91182501
31* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90101371
32EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.84613581
33NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.75366144
34DCP1A_22483619_ChIP-Seq_HELA_Human1.75281740
35PADI4_21655091_ChIP-ChIP_MCF-7_Human1.74608761
36FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.73991450
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.73951428
38TTF2_22483619_ChIP-Seq_HELA_Human1.73096553
39E2F1_18555785_ChIP-Seq_MESCs_Mouse1.70119687
40MYCN_18555785_ChIP-Seq_MESCs_Mouse1.64862717
41EWS_26573619_Chip-Seq_HEK293_Human1.64092849
42YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.60276838
43XRN2_22483619_ChIP-Seq_HELA_Human1.58553926
44MYC_18940864_ChIP-ChIP_HL60_Human1.58364713
45HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49712957
46GABP_19822575_ChIP-Seq_HepG2_Human1.43693456
47SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.43276957
48SRF_21415370_ChIP-Seq_HL-1_Mouse1.35601234
49NANOG_18555785_ChIP-Seq_MESCs_Mouse1.33859570
50POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32890018
51POU5F1_16153702_ChIP-ChIP_HESCs_Human1.31958394
52E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.31017606
53VDR_22108803_ChIP-Seq_LS180_Human1.29548358
54FUS_26573619_Chip-Seq_HEK293_Human1.28969547
55POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.28349633
56ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.24842980
57PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.24622668
58SOX2_16153702_ChIP-ChIP_HESCs_Human1.21232906
59NANOG_16153702_ChIP-ChIP_HESCs_Human1.20352022
60SOX2_18555785_ChIP-Seq_MESCs_Mouse1.18540173
61ZNF274_21170338_ChIP-Seq_K562_Hela1.15079961
62ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.13668105
63TP63_19390658_ChIP-ChIP_HaCaT_Human1.12396041
64ELF1_17652178_ChIP-ChIP_JURKAT_Human1.10340146
65KDM5A_27292631_Chip-Seq_BREAST_Human1.08100409
66IRF1_19129219_ChIP-ChIP_H3396_Human0.99118869
67CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.98063091
68ZFX_18555785_ChIP-Seq_MESCs_Mouse0.98029878
69YY1_21170310_ChIP-Seq_MESCs_Mouse0.97916204
70POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92409310
71RBPJ_22232070_ChIP-Seq_NCS_Mouse0.90391717
72CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.87879721
73CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.87665727
74PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.84795585
75SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.82506810
76CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.79673399
77SOX17_20123909_ChIP-Seq_XEN_Mouse0.79473184
78NOTCH1_21737748_ChIP-Seq_TLL_Human0.78412179
79ERG_20887958_ChIP-Seq_HPC-7_Mouse0.75001563
80HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.74752074
81SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.74603371
82CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.72997153
83TAF15_26573619_Chip-Seq_HEK293_Human0.72739080
84FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.70483238
85HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.69078416
86KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.68759262
87MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.67381457
88IGF1R_20145208_ChIP-Seq_DFB_Human0.65004087
89P300_19829295_ChIP-Seq_ESCs_Human0.64727632
90NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.64591081
91ELK1_22589737_ChIP-Seq_MCF10A_Human0.62674093
92RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.62203728
93RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.61268622
94GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.61212535
95EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.61147713
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.60958425
97GATA1_26923725_Chip-Seq_HPCs_Mouse0.59809823
98TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.58849856
99BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.58231745
100SOX9_26525672_Chip-Seq_HEART_Mouse0.56502584

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.44857396
2MP0003693_abnormal_embryo_hatching5.25340415
3MP0003111_abnormal_nucleus_morphology4.29538787
4MP0004957_abnormal_blastocyst_morpholog3.91742996
5MP0003077_abnormal_cell_cycle3.89548174
6MP0008058_abnormal_DNA_repair3.77873412
7MP0008057_abnormal_DNA_replication3.56487178
8MP0006292_abnormal_olfactory_placode3.18509301
9MP0008932_abnormal_embryonic_tissue2.91362895
10MP0003718_maternal_effect2.67755412
11MP0003890_abnormal_embryonic-extraembry2.49570172
12MP0009697_abnormal_copulation2.48412551
13MP0008007_abnormal_cellular_replicative2.39102528
14MP0003136_yellow_coat_color2.36728154
15MP0008877_abnormal_DNA_methylation2.12223928
16MP0001293_anophthalmia2.04562658
17MP0002938_white_spotting1.87584085
18MP0010030_abnormal_orbit_morphology1.86910109
19MP0001529_abnormal_vocalization1.75504445
20MP0000372_irregular_coat_pigmentation1.73140578
21MP0006072_abnormal_retinal_apoptosis1.63796635
22MP0003786_premature_aging1.62579695
23MP0008789_abnormal_olfactory_epithelium1.57075040
24MP0003937_abnormal_limbs/digits/tail_de1.53803260
25MP0000350_abnormal_cell_proliferation1.49386885
26MP0003806_abnormal_nucleotide_metabolis1.48917698
27MP0002210_abnormal_sex_determination1.46971046
28MP0001697_abnormal_embryo_size1.46808731
29MP0001929_abnormal_gametogenesis1.44432681
30MP0001672_abnormal_embryogenesis/_devel1.39786279
31MP0005380_embryogenesis_phenotype1.39786279
32MP0001730_embryonic_growth_arrest1.34606038
33MP0002085_abnormal_embryonic_tissue1.31653370
34MP0010307_abnormal_tumor_latency1.31416854
35MP0001286_abnormal_eye_development1.27416822
36MP0009379_abnormal_foot_pigmentation1.25668933
37MP0003941_abnormal_skin_development1.24805084
38MP0002102_abnormal_ear_morphology1.22525029
39MP0001145_abnormal_male_reproductive1.20083898
40MP0002084_abnormal_developmental_patter1.19780265
41MP0000653_abnormal_sex_gland1.15206923
42MP0005499_abnormal_olfactory_system1.14344643
43MP0005394_taste/olfaction_phenotype1.14344643
44MP0003567_abnormal_fetal_cardiomyocyte1.13100730
45MP0002080_prenatal_lethality1.11691873
46MP0003121_genomic_imprinting1.09638606
47MP0002233_abnormal_nose_morphology1.08588412
48MP0003984_embryonic_growth_retardation1.08221128
49MP0000313_abnormal_cell_death1.06754012
50MP0006035_abnormal_mitochondrial_morpho1.06390363
51MP0002697_abnormal_eye_size1.05359279
52MP0002088_abnormal_embryonic_growth/wei1.05039165
53MP0000049_abnormal_middle_ear1.03289126
54MP0003119_abnormal_digestive_system1.02035662
55MP0006036_abnormal_mitochondrial_physio1.02029205
56MP0002111_abnormal_tail_morphology1.00962609
57MP0001485_abnormal_pinna_reflex0.99928208
58MP0003186_abnormal_redox_activity0.99501874
59MP0002160_abnormal_reproductive_system0.97512561
60MP0000566_synostosis0.96129137
61MP0001119_abnormal_female_reproductive0.95547464
62MP0002234_abnormal_pharynx_morphology0.94922396
63MP0000631_abnormal_neuroendocrine_gland0.93094960
64MP0003698_abnormal_male_reproductive0.92506389
65MP0004197_abnormal_fetal_growth/weight/0.92028500
66MP0004147_increased_porphyrin_level0.91646918
67MP0005171_absent_coat_pigmentation0.91243724
68MP0005253_abnormal_eye_physiology0.91061450
69MP0003315_abnormal_perineum_morphology0.90075655
70MP0009672_abnormal_birth_weight0.87621247
71MP0005391_vision/eye_phenotype0.86942673
72MP0002653_abnormal_ependyma_morphology0.83092169
73MP0002095_abnormal_skin_pigmentation0.82911308
74MP0008995_early_reproductive_senescence0.82720953
75MP0005395_other_phenotype0.82321018
76MP0000647_abnormal_sebaceous_gland0.78982502
77MP0003755_abnormal_palate_morphology0.78494735
78MP0000358_abnormal_cell_content/0.75825338
79MP0005389_reproductive_system_phenotype0.75714196
80MP0002092_abnormal_eye_morphology0.75239530
81MP0004133_heterotaxia0.75186245
82MP0002751_abnormal_autonomic_nervous0.75163312
83MP0003861_abnormal_nervous_system0.74229900
84MP0002019_abnormal_tumor_incidence0.73324123
85MP0002161_abnormal_fertility/fecundity0.72869817
86MP0005174_abnormal_tail_pigmentation0.71467052
87MP0009703_decreased_birth_body0.67115815
88MP0003699_abnormal_female_reproductive0.65714179
89MP0005084_abnormal_gallbladder_morpholo0.65534525
90MP0002638_abnormal_pupillary_reflex0.63936485
91MP0005075_abnormal_melanosome_morpholog0.63936308
92MP0002086_abnormal_extraembryonic_tissu0.63307740
93MP0001346_abnormal_lacrimal_gland0.63070248
94MP0002396_abnormal_hematopoietic_system0.61485588
95MP0001919_abnormal_reproductive_system0.60466915
96MP0003385_abnormal_body_wall0.59979842
97MP0000428_abnormal_craniofacial_morphol0.59597071
98MP0002282_abnormal_trachea_morphology0.59457782
99MP0005408_hypopigmentation0.59367772
100MP0001727_abnormal_embryo_implantation0.59186026

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)5.16049558
2Chromsome breakage (HP:0040012)4.88326836
3Meckel diverticulum (HP:0002245)4.29897936
4Aplasia/Hypoplasia of the uvula (HP:0010293)4.19758567
5Abnormality of chromosome stability (HP:0003220)4.12347295
6Abnormality of the ileum (HP:0001549)4.12016492
7Abnormality of the preputium (HP:0100587)3.74263561
8Duodenal stenosis (HP:0100867)3.73471352
9Small intestinal stenosis (HP:0012848)3.73471352
10Abnormal lung lobation (HP:0002101)3.72307363
11Volvulus (HP:0002580)3.68244641
12Abnormality of the duodenum (HP:0002246)3.27021707
13Nephroblastoma (Wilms tumor) (HP:0002667)3.06550468
14Reticulocytopenia (HP:0001896)3.06405203
15Cortical dysplasia (HP:0002539)3.03060849
16Increased nuchal translucency (HP:0010880)3.02459288
17Acute necrotizing encephalopathy (HP:0006965)3.01533348
18Embryonal renal neoplasm (HP:0011794)2.98340845
19Sloping forehead (HP:0000340)2.95310652
20Aplasia/Hypoplasia of the sacrum (HP:0008517)2.95210037
21Abnormality of the labia minora (HP:0012880)2.90136885
22Colon cancer (HP:0003003)2.89919594
23Septo-optic dysplasia (HP:0100842)2.86714434
24Birth length less than 3rd percentile (HP:0003561)2.84652483
25Abnormality of the carotid arteries (HP:0005344)2.79365983
26Myelodysplasia (HP:0002863)2.79237522
27Acute encephalopathy (HP:0006846)2.76584028
28Triphalangeal thumb (HP:0001199)2.69281123
29Ectopic kidney (HP:0000086)2.67188506
30Abnormal mitochondria in muscle tissue (HP:0008316)2.64801103
31Increased hepatocellular lipid droplets (HP:0006565)2.63423639
32Clubbing of toes (HP:0100760)2.63128243
33Absent radius (HP:0003974)2.55746349
34Mitochondrial inheritance (HP:0001427)2.49011154
35Lipid accumulation in hepatocytes (HP:0006561)2.46691005
36Increased CSF lactate (HP:0002490)2.46215850
37Progressive macrocephaly (HP:0004481)2.44386617
38Absent forearm bone (HP:0003953)2.42491805
39Aplasia involving forearm bones (HP:0009822)2.42491805
40Absent thumb (HP:0009777)2.34048326
41Hypoplasia of the pons (HP:0012110)2.32666755
42Absent septum pellucidum (HP:0001331)2.28544931
43Abnormality of the pons (HP:0007361)2.24196373
44Horseshoe kidney (HP:0000085)2.23022047
45Carpal bone hypoplasia (HP:0001498)2.20347514
46Abnormality of the septum pellucidum (HP:0007375)2.18100896
47Supernumerary spleens (HP:0009799)2.17172888
48Rhabdomyosarcoma (HP:0002859)2.08335167
49Oligodactyly (hands) (HP:0001180)2.05637300
50Cerebral edema (HP:0002181)2.05289730
51Abnormal number of erythroid precursors (HP:0012131)2.04333033
52Hypoplastic pelvis (HP:0008839)2.03842279
53Duplicated collecting system (HP:0000081)2.03077275
54Aplasia/Hypoplasia of the sternum (HP:0006714)2.02095499
55Abnormality of cells of the erythroid lineage (HP:0012130)2.00720496
56Neoplasm of the colon (HP:0100273)2.00572109
57Hepatocellular necrosis (HP:0001404)2.00376502
58Patellar aplasia (HP:0006443)1.99750288
59Abnormal number of incisors (HP:0011064)1.96803123
60Pancreatic cysts (HP:0001737)1.92265201
61Macrocytic anemia (HP:0001972)1.91865914
62Small hand (HP:0200055)1.91455635
63Intestinal atresia (HP:0011100)1.91322712
64Short thumb (HP:0009778)1.89856830
65Median cleft lip (HP:0000161)1.87926553
66Abnormality of the renal collecting system (HP:0004742)1.87180115
67Arteriovenous malformation (HP:0100026)1.85886257
68Molar tooth sign on MRI (HP:0002419)1.84381230
69Abnormality of midbrain morphology (HP:0002418)1.84381230
70Embryonal neoplasm (HP:0002898)1.82919998
71Aplasia/Hypoplasia of the patella (HP:0006498)1.82775537
72Cafe-au-lait spot (HP:0000957)1.81597959
73Hepatic necrosis (HP:0002605)1.80832587
74True hermaphroditism (HP:0010459)1.80237425
75Hyperglycinemia (HP:0002154)1.79836581
76Holoprosencephaly (HP:0001360)1.78786823
77Renal Fanconi syndrome (HP:0001994)1.78762230
78Type I transferrin isoform profile (HP:0003642)1.77606149
79Pancreatic fibrosis (HP:0100732)1.77320183
80Choanal atresia (HP:0000453)1.76682117
81Degeneration of anterior horn cells (HP:0002398)1.75715358
82Abnormality of the anterior horn cell (HP:0006802)1.75715358
83Oligodactyly (HP:0012165)1.74608661
84Impulsivity (HP:0100710)1.73851661
85Medulloblastoma (HP:0002885)1.73765413
86Methylmalonic acidemia (HP:0002912)1.73238492
87Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.72502116
88Pancytopenia (HP:0001876)1.70984386
89Bifid tongue (HP:0010297)1.70457070
90Tracheoesophageal fistula (HP:0002575)1.69570102
91Dandy-Walker malformation (HP:0001305)1.67856905
92Pendular nystagmus (HP:0012043)1.67141207
93Optic nerve hypoplasia (HP:0000609)1.66065717
94Duplication of thumb phalanx (HP:0009942)1.65377309
95Bone marrow hypocellularity (HP:0005528)1.64115082
96Cleft eyelid (HP:0000625)1.63788909
97Oligohydramnios (HP:0001562)1.63740319
98Congenital, generalized hypertrichosis (HP:0004540)1.63605051
99Increased serum lactate (HP:0002151)1.63324659
100Stenosis of the external auditory canal (HP:0000402)1.62977207

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB16.12627079
2WEE13.98453522
3TTK3.97399064
4NEK13.73941705
5CDC73.70987037
6PLK43.30631741
7BRSK23.07967303
8PBK2.79560663
9VRK22.70416949
10ZAK2.62118900
11PLK32.59564662
12SRPK12.47175137
13NEK22.35866940
14PLK12.06722388
15VRK12.01735104
16MKNK21.86608198
17BRSK11.86571436
18NUAK11.74430239
19MKNK11.72458125
20EIF2AK31.72121369
21CCNB11.69543229
22MST41.52793824
23CHEK21.52785951
24STK161.52287693
25EIF2AK11.51193592
26AURKB1.49300238
27TNIK1.41599159
28TSSK61.40613040
29TAF11.38260621
30BMPR1B1.34910460
31WNK31.31072334
32TRIM281.30837278
33ATR1.23506414
34PNCK1.20205302
35EIF2AK21.19235164
36BRAF1.08891528
37ACVR1B1.00640355
38STK30.97374651
39AURKA0.95073018
40STK40.94869934
41CDK70.83987878
42CHEK10.83765751
43NME10.81682426
44MARK30.81127629
45ATM0.77258975
46TLK10.73584513
47STK100.72816455
48PLK20.72142078
49DYRK30.69954078
50MELK0.68555992
51MAP3K80.64185843
52CDK80.61152303
53CDK10.59070055
54CLK10.56623131
55MAP4K20.54899690
56CSNK2A10.53027271
57DYRK20.51017648
58ERBB30.49536225
59PDK20.49054229
60CSNK1G10.48575951
61UHMK10.47828000
62CDK30.46848211
63CDK20.45550644
64PASK0.44245266
65CSNK2A20.43373289
66RPS6KA40.43157581
67LATS10.42935241
68CSNK1G30.39225623
69MAPK130.38626748
70BCR0.38513063
71TGFBR10.36890104
72ERBB40.33962862
73CDK40.33568857
74PRKCI0.33192635
75STK38L0.31524408
76STK390.31109193
77CSNK1G20.30379046
78NME20.30197489
79NLK0.29913481
80CSNK1E0.29117836
81PAK10.28438377
82CDK180.28369042
83CDK11A0.26237100
84CDK150.26015390
85CDK140.25821176
86CSNK1A1L0.25205099
87PKN10.25066324
88FGFR10.24965354
89WNK40.24719300
90MAP3K100.24023430
91MAP2K70.23991696
92FRK0.23787759
93PRKDC0.23587307
94RPS6KA50.23296179
95BCKDK0.22472247
96MINK10.21576803
97MAP3K40.21532592
98PRKCG0.21251818
99OXSR10.20628421
100GRK10.16065939

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.42964893
2Mismatch repair_Homo sapiens_hsa034304.28872928
3Homologous recombination_Homo sapiens_hsa034403.74549925
4Proteasome_Homo sapiens_hsa030503.47781540
5Fanconi anemia pathway_Homo sapiens_hsa034603.29551257
6Cell cycle_Homo sapiens_hsa041102.95656636
7Non-homologous end-joining_Homo sapiens_hsa034502.90026177
8Base excision repair_Homo sapiens_hsa034102.81510815
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.74867011
10Ribosome_Homo sapiens_hsa030102.74643831
11Nucleotide excision repair_Homo sapiens_hsa034202.58932401
12RNA polymerase_Homo sapiens_hsa030202.52019497
13Spliceosome_Homo sapiens_hsa030402.49364527
14Protein export_Homo sapiens_hsa030602.45699584
15Oxidative phosphorylation_Homo sapiens_hsa001902.30495431
16RNA transport_Homo sapiens_hsa030132.27162376
17Parkinsons disease_Homo sapiens_hsa050122.15620726
18Basal transcription factors_Homo sapiens_hsa030222.07311354
19RNA degradation_Homo sapiens_hsa030182.03869599
20One carbon pool by folate_Homo sapiens_hsa006701.93801947
21Pyrimidine metabolism_Homo sapiens_hsa002401.78346600
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.77001762
23Huntingtons disease_Homo sapiens_hsa050161.72701939
24Oocyte meiosis_Homo sapiens_hsa041141.54484847
25Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.42331278
26Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.31641910
27p53 signaling pathway_Homo sapiens_hsa041151.27814420
28Propanoate metabolism_Homo sapiens_hsa006401.27538361
29Alzheimers disease_Homo sapiens_hsa050101.26115403
30Cysteine and methionine metabolism_Homo sapiens_hsa002701.21644498
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.20619213
32Purine metabolism_Homo sapiens_hsa002301.20098296
33mRNA surveillance pathway_Homo sapiens_hsa030151.19007560
34Folate biosynthesis_Homo sapiens_hsa007901.10207501
35Pyruvate metabolism_Homo sapiens_hsa006201.09997072
36Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.07684855
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07250304
38Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.99707811
39Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.99661285
40Steroid biosynthesis_Homo sapiens_hsa001000.96362585
41Selenocompound metabolism_Homo sapiens_hsa004500.95694094
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.89173964
43Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.89042979
44Fatty acid elongation_Homo sapiens_hsa000620.86483972
45Glutathione metabolism_Homo sapiens_hsa004800.84470682
46Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.81722085
47Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81645350
48Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.79224635
492-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.77737003
50Basal cell carcinoma_Homo sapiens_hsa052170.66344799
51Phototransduction_Homo sapiens_hsa047440.63082014
52Cardiac muscle contraction_Homo sapiens_hsa042600.61782398
53Biosynthesis of amino acids_Homo sapiens_hsa012300.59471117
54Systemic lupus erythematosus_Homo sapiens_hsa053220.59191887
55Metabolic pathways_Homo sapiens_hsa011000.55014805
56TGF-beta signaling pathway_Homo sapiens_hsa043500.51441447
57Hedgehog signaling pathway_Homo sapiens_hsa043400.51218929
58Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49626777
59Carbon metabolism_Homo sapiens_hsa012000.48171778
60Hippo signaling pathway_Homo sapiens_hsa043900.46669876
61Epstein-Barr virus infection_Homo sapiens_hsa051690.45403351
62Vitamin B6 metabolism_Homo sapiens_hsa007500.44616007
63Alcoholism_Homo sapiens_hsa050340.44423871
64Butanoate metabolism_Homo sapiens_hsa006500.44129558
65Sulfur relay system_Homo sapiens_hsa041220.43254303
66Wnt signaling pathway_Homo sapiens_hsa043100.38155673
67N-Glycan biosynthesis_Homo sapiens_hsa005100.37914487
68Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35526457
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.35126372
70Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.35009300
71Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.32813956
72Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.32410004
73Peroxisome_Homo sapiens_hsa041460.32055041
74Fatty acid metabolism_Homo sapiens_hsa012120.30680705
75Drug metabolism - other enzymes_Homo sapiens_hsa009830.29918599
76Lysine degradation_Homo sapiens_hsa003100.29899319
77Tryptophan metabolism_Homo sapiens_hsa003800.27566575
78Viral carcinogenesis_Homo sapiens_hsa052030.27383379
79Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.26479595
80Olfactory transduction_Homo sapiens_hsa047400.25321444
81Vitamin digestion and absorption_Homo sapiens_hsa049770.24645422
82MicroRNAs in cancer_Homo sapiens_hsa052060.21489743
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.20885456
84Nitrogen metabolism_Homo sapiens_hsa009100.17505101
85Fatty acid degradation_Homo sapiens_hsa000710.17243573
86HTLV-I infection_Homo sapiens_hsa051660.16837090
87Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.16722247
88Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.16505022
89Caffeine metabolism_Homo sapiens_hsa002320.15855515
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.15301071
91Maturity onset diabetes of the young_Homo sapiens_hsa049500.14922771
92Regulation of autophagy_Homo sapiens_hsa041400.14830724
93Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.14720890
94beta-Alanine metabolism_Homo sapiens_hsa004100.14607925
95Chemical carcinogenesis_Homo sapiens_hsa052040.13995778
96Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.12870253
97Retinol metabolism_Homo sapiens_hsa008300.11860470
98Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.10061818
99Sulfur metabolism_Homo sapiens_hsa009200.09369517
100Thyroid cancer_Homo sapiens_hsa052160.08754189

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