SIRT6

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 a member of the sirtuin family of NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)5.68439745
2NIK/NF-kappaB signaling (GO:0038061)4.70390817
3proteasome assembly (GO:0043248)4.67034587
4Arp2/3 complex-mediated actin nucleation (GO:0034314)4.33194306
5negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.25070745
6ribosomal small subunit assembly (GO:0000028)4.20273331
7telomere maintenance via semi-conservative replication (GO:0032201)4.13824439
8regulation of nuclear cell cycle DNA replication (GO:0033262)4.05765467
9rRNA modification (GO:0000154)4.00483996
10DNA replication checkpoint (GO:0000076)3.90624230
11ribosome biogenesis (GO:0042254)3.87640945
12termination of RNA polymerase III transcription (GO:0006386)3.85332348
13transcription elongation from RNA polymerase III promoter (GO:0006385)3.85332348
14DNA strand elongation involved in DNA replication (GO:0006271)3.79079320
15telomere maintenance via recombination (GO:0000722)3.69290885
16DNA strand elongation (GO:0022616)3.66266782
17positive regulation by symbiont of host defense response (GO:0052509)3.65475892
18modulation by symbiont of host defense response (GO:0052031)3.65475892
19modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.65475892
20modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.65475892
21positive regulation by organism of defense response of other organism involved in symbiotic interact3.65475892
22modulation by symbiont of host immune response (GO:0052553)3.65475892
23positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.60411804
24immunoglobulin mediated immune response (GO:0016064)3.59092540
25pseudouridine synthesis (GO:0001522)3.56332795
26viral mRNA export from host cell nucleus (GO:0046784)3.55785190
27cullin deneddylation (GO:0010388)3.54771339
28DNA replication initiation (GO:0006270)3.52720085
29ribonucleoprotein complex biogenesis (GO:0022613)3.50643711
30response to peptidoglycan (GO:0032494)3.45686586
31antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.45549188
32antigen processing and presentation of endogenous antigen (GO:0019883)3.45195504
33negative regulation of erythrocyte differentiation (GO:0045647)3.40049015
34mitotic recombination (GO:0006312)3.40002568
35protein deneddylation (GO:0000338)3.38192487
36rRNA methylation (GO:0031167)3.31338747
37negative regulation of cell killing (GO:0031342)3.30526038
38negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.30526038
39actin nucleation (GO:0045010)3.24113112
407-methylguanosine mRNA capping (GO:0006370)3.23636131
41transcription-coupled nucleotide-excision repair (GO:0006283)3.22964426
42negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.22831784
43protein localization to kinetochore (GO:0034501)3.22811755
44mitotic metaphase plate congression (GO:0007080)3.22310992
45antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.21829855
46ribosomal small subunit biogenesis (GO:0042274)3.21304806
47telomere maintenance via telomere lengthening (GO:0010833)3.20445185
487-methylguanosine RNA capping (GO:0009452)3.18838091
49RNA capping (GO:0036260)3.18838091
50maturation of SSU-rRNA (GO:0030490)3.18719613
51DNA damage response, detection of DNA damage (GO:0042769)3.17587739
52formation of translation preinitiation complex (GO:0001731)3.17030872
53positive regulation of gamma-delta T cell activation (GO:0046645)3.16963042
54spliceosomal snRNP assembly (GO:0000387)3.15779407
55replication fork processing (GO:0031297)3.13899364
56transcription from RNA polymerase I promoter (GO:0006360)3.11422092
57kinetochore assembly (GO:0051382)3.10737808
58negative regulation of telomere maintenance (GO:0032205)3.09973245
59maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.09872954
60nucleotide-excision repair, DNA gap filling (GO:0006297)3.08518810
61anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.08456753
62negative regulation of interleukin-12 production (GO:0032695)3.07992730
63DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.07922026
64histone H4-K12 acetylation (GO:0043983)3.06865223
65signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.06531317
66signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.06531317
67signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.06531317
68regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.05770592
69cellular response to type I interferon (GO:0071357)3.05344396
70type I interferon signaling pathway (GO:0060337)3.05344396
71regulation of interferon-beta biosynthetic process (GO:0045357)3.05176138
72regulation of type I interferon-mediated signaling pathway (GO:0060338)3.03756062
73deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.03522353
74signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.02061832
75intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.02061832
76response to type I interferon (GO:0034340)3.00484845
77ribosomal large subunit biogenesis (GO:0042273)2.99585548
78mitotic sister chromatid segregation (GO:0000070)2.99456144
79polyketide metabolic process (GO:0030638)2.99281180
80doxorubicin metabolic process (GO:0044598)2.99281180
81daunorubicin metabolic process (GO:0044597)2.99281180
82GDP-mannose metabolic process (GO:0019673)2.99079028
83signal transduction involved in cell cycle checkpoint (GO:0072395)2.97755094
84COPI coating of Golgi vesicle (GO:0048205)2.97713804
85Golgi transport vesicle coating (GO:0048200)2.97713804
86signal transduction involved in DNA damage checkpoint (GO:0072422)2.97423172
87signal transduction involved in DNA integrity checkpoint (GO:0072401)2.97423172
88cellular response to virus (GO:0098586)2.96712959
89positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.95917427
90rRNA processing (GO:0006364)2.95495290
91neutrophil activation involved in immune response (GO:0002283)2.94917430
92nucleobase biosynthetic process (GO:0046112)2.94294266
93protein localization to endosome (GO:0036010)2.93802264
94purine nucleobase biosynthetic process (GO:0009113)2.93776055
95respiratory burst (GO:0045730)2.93656436
96detection of bacterium (GO:0016045)2.92979849
97myeloid dendritic cell differentiation (GO:0043011)2.90678578
98lipopolysaccharide-mediated signaling pathway (GO:0031663)2.89152658
99modulation by symbiont of host cellular process (GO:0044068)2.88978801
100negative regulation of myeloid cell apoptotic process (GO:0033033)2.88580189
101regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.88357806
102negative regulation of ligase activity (GO:0051352)2.88087332
103negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.88087332
104maturation of 5.8S rRNA (GO:0000460)2.87936582
105barbed-end actin filament capping (GO:0051016)2.86477198
106modulation by virus of host process (GO:0019054)2.85417716
107cellular component biogenesis (GO:0044085)2.83196673
108rRNA metabolic process (GO:0016072)2.82973355
109* regulation of double-strand break repair via homologous recombination (GO:0010569)2.82726335
110viral protein processing (GO:0019082)2.81453666
111detection of other organism (GO:0098543)2.81065190
112macrophage activation involved in immune response (GO:0002281)2.80445643
113peptidyl-arginine omega-N-methylation (GO:0035247)2.80370135
114protein localization to chromosome, centromeric region (GO:0071459)2.80314515
115regulation of superoxide anion generation (GO:0032928)2.79085631
116antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.79037488
117negative regulation of B cell apoptotic process (GO:0002903)2.77020320
118CENP-A containing nucleosome assembly (GO:0034080)2.76394918
119regulation of mammary gland epithelial cell proliferation (GO:0033599)2.75540624
120kinetochore organization (GO:0051383)2.75264813
121activation of MAPKKK activity (GO:0000185)2.75203598
122amino sugar catabolic process (GO:0046348)2.75127552
123tRNA methylation (GO:0030488)2.74432262
124sequestering of actin monomers (GO:0042989)2.73958999
125transcription from mitochondrial promoter (GO:0006390)2.72277624
126DNA-dependent DNA replication (GO:0006261)2.72209821
127virion assembly (GO:0019068)2.71748023
128purine deoxyribonucleotide catabolic process (GO:0009155)2.70509254
129regulation of defense response to virus by virus (GO:0050690)2.70463195
130DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.70381563
131positive regulation of Cdc42 GTPase activity (GO:0043089)2.70283857
132protein maturation by protein folding (GO:0022417)2.68403275
133pyrimidine-containing compound salvage (GO:0008655)2.68077066
134pyrimidine nucleoside salvage (GO:0043097)2.68077066
135viral transcription (GO:0019083)2.67955745
136positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.67905789
137spliceosomal complex assembly (GO:0000245)2.67718256
138G1/S transition of mitotic cell cycle (GO:0000082)2.66536402
139cell cycle G1/S phase transition (GO:0044843)2.66536402
140tRNA modification (GO:0006400)2.66318650
141pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.66312400
142regulation of mast cell degranulation (GO:0043304)2.65601481
143amyloid precursor protein catabolic process (GO:0042987)2.65021267
144histone arginine methylation (GO:0034969)2.64493954
145chromatin remodeling at centromere (GO:0031055)2.63030100
146transcription elongation from RNA polymerase II promoter (GO:0006368)2.62746187
147GMP metabolic process (GO:0046037)2.62377838
148positive regulation of release of cytochrome c from mitochondria (GO:0090200)2.61336152
149RNA methylation (GO:0001510)2.60978093
150deoxyribonucleotide biosynthetic process (GO:0009263)2.60965440
151response to muramyl dipeptide (GO:0032495)2.60783250
152exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.60709083
153positive regulation of cell cycle arrest (GO:0071158)2.59568305
154nuclear envelope reassembly (GO:0031468)2.59350595
155mitotic nuclear envelope reassembly (GO:0007084)2.59350595
156negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)2.59262044
157regulation of cellular amino acid metabolic process (GO:0006521)2.59213891
158DNA ligation (GO:0006266)2.58924177
159mannose metabolic process (GO:0006013)2.58750774
160positive regulation of viral transcription (GO:0050434)2.58565231
161positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.56805694
162metaphase plate congression (GO:0051310)2.56622718
163translation (GO:0006412)2.56444462
164regulation of leukocyte degranulation (GO:0043300)2.56166588
165protein insertion into membrane (GO:0051205)2.54782520
166myeloid dendritic cell activation (GO:0001773)2.54630756
167protein retention in ER lumen (GO:0006621)2.52782826
168apoptotic process involved in morphogenesis (GO:0060561)2.51537673
169chaperone mediated protein folding requiring cofactor (GO:0051085)2.51405276
170pentose-phosphate shunt (GO:0006098)2.46405090
171B cell mediated immunity (GO:0019724)2.46244133
172granulocyte activation (GO:0036230)2.45020711
173UV protection (GO:0009650)2.45019084
174regulation of cellular extravasation (GO:0002691)2.44508684
175positive regulation of lymphocyte apoptotic process (GO:0070230)2.44479050
176regulation of myeloid leukocyte mediated immunity (GO:0002886)2.43898902
177positive thymic T cell selection (GO:0045059)2.42788069
178negative regulation of innate immune response (GO:0045824)2.41676450
179T cell migration (GO:0072678)2.41638883
180interferon-gamma-mediated signaling pathway (GO:0060333)2.39691871
181negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.37290390
182regulation of necrotic cell death (GO:0010939)2.37203561
183response to host immune response (GO:0052572)2.36342675
184response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.36342675
185regulation of protein heterodimerization activity (GO:0043497)2.36329091
186positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling2.35185097
187maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.34830013
188retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.34003519
189negative regulation of tumor necrosis factor production (GO:0032720)2.33833183
190leukocyte aggregation (GO:0070486)2.33199971
191response to protozoan (GO:0001562)2.32968575
192positive regulation of T cell apoptotic process (GO:0070234)2.32827259
193glycosphingolipid catabolic process (GO:0046479)2.31952782
194regulation of B cell apoptotic process (GO:0002902)2.31481963
195metallo-sulfur cluster assembly (GO:0031163)2.31424722
196iron-sulfur cluster assembly (GO:0016226)2.31424722
197negative regulation of cytokine production involved in immune response (GO:0002719)2.31360100

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.45501347
2MYC_18555785_ChIP-Seq_MESCs_Mouse3.83088125
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.53758970
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.49144461
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.35645866
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.21091422
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.05524034
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.00281369
9E2F4_17652178_ChIP-ChIP_JURKAT_Human2.97370785
10* ETS1_20019798_ChIP-Seq_JURKAT_Human2.92483828
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.85218844
12FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.77962293
13MYC_19030024_ChIP-ChIP_MESCs_Mouse2.75614037
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.72313546
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.66157151
16MYC_19079543_ChIP-ChIP_MESCs_Mouse2.64532306
17CREB1_15753290_ChIP-ChIP_HEK293T_Human2.58923038
18LXR_22292898_ChIP-Seq_THP-1_Human2.54712515
19YY1_21170310_ChIP-Seq_MESCs_Mouse2.53030250
20* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.35975124
21NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.34544538
22TP63_19390658_ChIP-ChIP_HaCaT_Human2.32449335
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.31169769
24* VDR_23849224_ChIP-Seq_CD4+_Human2.27114744
25ELK3_25401928_ChIP-Seq_HUVEC_Human2.25701986
26FOXM1_23109430_ChIP-Seq_U2OS_Human2.24209556
27TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.22971668
28THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.22168163
29NANOG_18555785_ChIP-Seq_MESCs_Mouse2.19571589
30SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.13121160
31XRN2_22483619_ChIP-Seq_HELA_Human2.10220331
32THAP11_20581084_ChIP-Seq_MESCs_Mouse2.05572874
33FOXP3_21729870_ChIP-Seq_TREG_Human2.02835578
34E2F1_18555785_ChIP-Seq_MESCs_Mouse2.02622093
35NELFA_20434984_ChIP-Seq_ESCs_Mouse2.00442545
36MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.00292825
37POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.95193144
38SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.93574078
39KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.90909471
40KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.90909471
41KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.90909471
42RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.90541044
43IRF8_22096565_ChIP-ChIP_GC-B_Human1.90208812
44TTF2_22483619_ChIP-Seq_HELA_Human1.89983660
45PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.89578743
46* RARG_19884340_ChIP-ChIP_MEFs_Mouse1.85388818
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.83781903
48KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.83567246
49* GABP_19822575_ChIP-Seq_HepG2_Human1.83434928
50VDR_24763502_ChIP-Seq_THP-1_Human1.82469713
51* SRF_21415370_ChIP-Seq_HL-1_Mouse1.81852117
52SRY_22984422_ChIP-ChIP_TESTIS_Rat1.81328146
53DCP1A_22483619_ChIP-Seq_HELA_Human1.81220525
54TET1_21451524_ChIP-Seq_MESCs_Mouse1.76333009
55POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.75974872
56P68_20966046_ChIP-Seq_HELA_Human1.74529034
57ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.72051904
58KDM2B_26808549_Chip-Seq_DND41_Human1.71464742
59MAF_26560356_Chip-Seq_TH1_Human1.68932834
60CIITA_25753668_ChIP-Seq_RAJI_Human1.68818880
61RACK7_27058665_Chip-Seq_MCF-7_Human1.67508641
62MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.66382932
63ELF1_20517297_ChIP-Seq_JURKAT_Human1.66325318
64FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.65537585
65UTX_26944678_Chip-Seq_JUKART_Human1.64715832
66BCL6_27268052_Chip-Seq_Bcells_Human1.64612238
67MAF_26560356_Chip-Seq_TH2_Human1.63952138
68MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.62698910
69HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.62470514
70TP63_17297297_ChIP-ChIP_HaCaT_Human1.58782781
71ELK1_19687146_ChIP-ChIP_HELA_Human1.58410102
72* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.56742944
73BCOR_27268052_Chip-Seq_Bcells_Human1.55865025
74E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.55077291
75SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.54307636
76NOTCH1_21737748_ChIP-Seq_TLL_Human1.54134663
77E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.53063834
78TCF7_22412390_ChIP-Seq_EML_Mouse1.50351379
79SA1_27219007_Chip-Seq_ERYTHROID_Human1.50234293
80RUNX1_22412390_ChIP-Seq_EML_Mouse1.49087212
81PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.48508934
82HOXB4_20404135_ChIP-ChIP_EML_Mouse1.48472140
83MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.48154341
84TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.46189016
85MYCN_18555785_ChIP-Seq_MESCs_Mouse1.46164117
86CTCF_27219007_Chip-Seq_ERYTHROID_Human1.45327199
87CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.42918470
88MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.42905672
89NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.42550188
90STAT4_19710469_ChIP-ChIP_TH1__Mouse1.40792387
91NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.40148560
92IRF8_21731497_ChIP-ChIP_J774_Mouse1.38929353
93SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.38789558
94CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.38610253
95SOX2_18555785_ChIP-Seq_MESCs_Mouse1.38524669
96YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.37727363
97* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.37670086
98* SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.36659810
99ZNF263_19887448_ChIP-Seq_K562_Human1.35870923
100PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.35377348
101POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.35074512
102PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.34469804
103KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.34269922
104SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.34035839
105* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.33187886
106E2F1_21310950_ChIP-Seq_MCF-7_Human1.30937231
107ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.30116164
108PU.1_20513432_ChIP-Seq_Bcells_Mouse1.28948969
109CTCF_26484167_Chip-Seq_Bcells_Mouse1.26105554
110ERG_20887958_ChIP-Seq_HPC-7_Mouse1.25495082
111UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.25493121
112BRD4_27068464_Chip-Seq_AML-cells_Mouse1.25329666
113CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24827409
114NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.23350817
115SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.23172712
116NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.22254679
117KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.20971990
118GATA1_22383799_ChIP-Seq_G1ME_Mouse1.20457565
119ELK1_22589737_ChIP-Seq_MCF10A_Human1.20283727
120SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.19653055
121RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.18445728
122PHF8_20622854_ChIP-Seq_HELA_Human1.17698765
123* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.16589740
124BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.15523899
125NCOR1_26117541_ChIP-Seq_K562_Human1.15276138
126CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.14839647
127KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.14675343
128MYC_22102868_ChIP-Seq_BL_Human1.14670579
129SMC4_20622854_ChIP-Seq_HELA_Human1.14234775
130TCF3_18692474_ChIP-Seq_MEFs_Mouse1.14201402
131TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.14072548
132SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.13523162
133IRF1_19129219_ChIP-ChIP_H3396_Human1.13372879
134DNAJC2_21179169_ChIP-ChIP_NT2_Human1.11325144
135CTCF_18555785_ChIP-Seq_MESCs_Mouse1.10566739
136NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.10516803
137* SA1_27219007_Chip-Seq_Bcells_Human1.09982050
138* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.08923670
139ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.08772424
140E2F1_20622854_ChIP-Seq_HELA_Human1.08670632
141SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.08641742
142SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.08456807
143ZFX_18555785_ChIP-Seq_MESCs_Mouse1.08423880
144STAT6_21828071_ChIP-Seq_BEAS2B_Human1.07799925
145ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07222950
146RARB_24833708_ChIP-Seq_LIVER_Mouse1.07034365
147* IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.06616683
148SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06614865
149SPI1_23547873_ChIP-Seq_NB4_Human1.04771110
150KDM5A_27292631_Chip-Seq_BREAST_Human1.04528733
151CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.03460682
152PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.02896261
153CTCF_21964334_Chip-Seq_Bcells_Human1.02461849
154ERG_21242973_ChIP-ChIP_JURKAT_Human1.02406314
155* KDM2B_26808549_Chip-Seq_K562_Human1.01686192
156MYC_18940864_ChIP-ChIP_HL60_Human1.01402163
157SPI1_23127762_ChIP-Seq_K562_Human1.01077510
158TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.00760003
159POU5F1_16153702_ChIP-ChIP_HESCs_Human0.99483311
160STAT3_1855785_ChIP-Seq_MESCs_Mouse0.98065105
161SOX2_18692474_ChIP-Seq_MEFs_Mouse0.96374085
162BP1_19119308_ChIP-ChIP_Hs578T_Human0.96258299
163TCF3_18692474_ChIP-Seq_MESCs_Mouse0.95130339
164GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.94441768
165POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.92101720
166OCT4_18692474_ChIP-Seq_MEFs_Mouse0.91961111
167KLF4_18555785_ChIP-Seq_MESCs_Mouse0.89404083
168VDR_21846776_ChIP-Seq_THP-1_Human0.88549822
169DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.88226096
170E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.86307745

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003436_decreased_susceptibility_to3.84196799
2MP0005058_abnormal_lysosome_morphology3.82344258
3MP0003693_abnormal_embryo_hatching3.75415755
4MP0003303_peritoneal_inflammation3.57477593
5MP0006292_abnormal_olfactory_placode3.49632859
6MP0008057_abnormal_DNA_replication3.03590814
7MP0009278_abnormal_bone_marrow2.97179080
8MP0004957_abnormal_blastocyst_morpholog2.96390806
9MP0009840_abnormal_foam_cell2.94702027
10MP0005451_abnormal_body_composition2.94332205
11MP0008058_abnormal_DNA_repair2.85994007
12MP0003111_abnormal_nucleus_morphology2.77074376
13* MP0010094_abnormal_chromosome_stability2.73894829
14MP0003077_abnormal_cell_cycle2.61465365
15MP0005025_abnormal_response_to2.55668876
16MP0005000_abnormal_immune_tolerance2.46997242
17MP0005075_abnormal_melanosome_morpholog2.37107650
18MP0002653_abnormal_ependyma_morphology2.34654643
19MP0001790_abnormal_immune_system2.33656866
20MP0005387_immune_system_phenotype2.33656866
21MP0002419_abnormal_innate_immunity2.31902129
22MP0003724_increased_susceptibility_to2.29164686
23MP0003191_abnormal_cellular_cholesterol2.27623388
24MP0000685_abnormal_immune_system2.23284408
25MP0008789_abnormal_olfactory_epithelium2.22353054
26MP0006082_CNS_inflammation2.21321079
27MP0003172_abnormal_lysosome_physiology2.20195473
28MP0005499_abnormal_olfactory_system2.16534235
29MP0005394_taste/olfaction_phenotype2.16534235
30MP0008932_abnormal_embryonic_tissue2.12674089
31MP0001800_abnormal_humoral_immune2.09430034
32MP0002723_abnormal_immune_serum2.06308654
33MP0002452_abnormal_antigen_presenting2.04521508
34MP0003136_yellow_coat_color2.02938165
35MP0002132_abnormal_respiratory_system2.02387356
36MP0000015_abnormal_ear_pigmentation2.01113474
37* MP0008007_abnormal_cellular_replicative2.00578358
38MP0004947_skin_inflammation1.94918262
39MP0003315_abnormal_perineum_morphology1.85654826
40MP0003718_maternal_effect1.83267905
41MP0001188_hyperpigmentation1.82758065
42MP0001533_abnormal_skeleton_physiology1.81388301
43MP0000490_abnormal_crypts_of1.79839200
44MP0000049_abnormal_middle_ear1.73225461
45MP0004510_myositis1.72970818
46MP0000604_amyloidosis1.71343002
47* MP0003786_premature_aging1.70804230
48MP0002751_abnormal_autonomic_nervous1.68183030
49MP0003300_gastrointestinal_ulcer1.64647716
50MP0002277_abnormal_respiratory_mucosa1.64085575
51MP0002396_abnormal_hematopoietic_system1.63422501
52MP0003075_altered_response_to1.62141728
53MP0003329_amyloid_beta_deposits1.61425141
54* MP0001845_abnormal_inflammatory_respons1.58278747
55MP0002160_abnormal_reproductive_system1.57840196
56MP0009333_abnormal_splenocyte_physiolog1.56679080
57MP0004858_abnormal_nervous_system1.55892870
58MP0009764_decreased_sensitivity_to1.55261816
59MP0005464_abnormal_platelet_physiology1.52393581
60* MP0010155_abnormal_intestine_physiology1.51045476
61MP0000678_abnormal_parathyroid_gland1.45990776
62MP0003806_abnormal_nucleotide_metabolis1.45960114
63MP0010030_abnormal_orbit_morphology1.44536031
64MP0001873_stomach_inflammation1.42792109
65MP0003763_abnormal_thymus_physiology1.42715795
66MP0008469_abnormal_protein_level1.42655042
67* MP0000350_abnormal_cell_proliferation1.40613386
68MP0000343_altered_response_to1.40233414
69MP0003183_abnormal_peptide_metabolism1.36439022
70MP0005671_abnormal_response_to1.35807478
71MP0002009_preneoplasia1.28496328
72MP0005174_abnormal_tail_pigmentation1.27409134
73* MP0000313_abnormal_cell_death1.26876743
74MP0001849_ear_inflammation1.26791629
75MP0003938_abnormal_ear_development1.26719571
76MP0001293_anophthalmia1.25918883
77MP0000372_irregular_coat_pigmentation1.24554896
78MP0002254_reproductive_system_inflammat1.24304058
79MP0003941_abnormal_skin_development1.24243085
80MP0001919_abnormal_reproductive_system1.24038433
81MP0000465_gastrointestinal_hemorrhage1.23188888
82MP0003866_abnormal_defecation1.23015287
83MP0009379_abnormal_foot_pigmentation1.22733337
84MP0001835_abnormal_antigen_presentation1.21923737
85MP0008877_abnormal_DNA_methylation1.20783021
86MP0002163_abnormal_gland_morphology1.19810847
87MP0003123_paternal_imprinting1.19514801
88MP0005389_reproductive_system_phenotype1.18242616
89MP0003121_genomic_imprinting1.17008396
90MP0001853_heart_inflammation1.16353032
91MP0005310_abnormal_salivary_gland1.14264093
92MP0002095_abnormal_skin_pigmentation1.13818332
93MP0002998_abnormal_bone_remodeling1.12332570
94MP0003453_abnormal_keratinocyte_physiol1.11013441
95MP0001672_abnormal_embryogenesis/_devel1.10785815
96MP0005380_embryogenesis_phenotype1.10785815
97MP0009785_altered_susceptibility_to1.09988156
98MP0008260_abnormal_autophagy1.09153587
99MP0001663_abnormal_digestive_system1.08170424
100MP0001119_abnormal_female_reproductive1.07795420
101MP0003705_abnormal_hypodermis_morpholog1.06143598
102MP0001542_abnormal_bone_strength1.05588098
103MP0005166_decreased_susceptibility_to1.04754372
104MP0002019_abnormal_tumor_incidence1.04169278
105MP0002210_abnormal_sex_determination1.01731265
106* MP0002398_abnormal_bone_marrow1.00882204
107MP0003119_abnormal_digestive_system1.00688556
108MP0002085_abnormal_embryonic_tissue1.00150821
109MP0002938_white_spotting1.00104196
110MP0004133_heterotaxia0.99398142
111MP0000858_altered_metastatic_potential0.98471333
112MP0005397_hematopoietic_system_phenotyp0.97940428
113MP0001545_abnormal_hematopoietic_system0.97940428
114MP0001727_abnormal_embryo_implantation0.97493531
115MP0000681_abnormal_thyroid_gland0.97458309
116MP0002933_joint_inflammation0.96297156
117MP0003567_abnormal_fetal_cardiomyocyte0.96053027
118MP0000750_abnormal_muscle_regeneration0.95499965
119MP0002638_abnormal_pupillary_reflex0.95084440
120MP0004381_abnormal_hair_follicle0.93577309
121MP0005390_skeleton_phenotype0.93294272
122MP0002148_abnormal_hypersensitivity_rea0.92993268
123* MP0000689_abnormal_spleen_morphology0.92107220
124* MP0002722_abnormal_immune_system0.90831583
125MP0002249_abnormal_larynx_morphology0.90546678
126MP0003448_altered_tumor_morphology0.90486509
127MP0001697_abnormal_embryo_size0.90412654
128MP0008995_early_reproductive_senescence0.90248241
129MP0001730_embryonic_growth_arrest0.89613557
130MP0001186_pigmentation_phenotype0.89490652
131MP0003984_embryonic_growth_retardation0.89332703
132MP0004782_abnormal_surfactant_physiolog0.89263537
133MP0002088_abnormal_embryonic_growth/wei0.87067782
134MP0002080_prenatal_lethality0.86640003
135MP0002177_abnormal_outer_ear0.86393853
136MP0000566_synostosis0.86319704
137MP0005171_absent_coat_pigmentation0.85194978
138MP0003890_abnormal_embryonic-extraembry0.85120528
139MP0002139_abnormal_hepatobiliary_system0.83654509
140MP0000703_abnormal_thymus_morphology0.83444441
141MP0008874_decreased_physiological_sensi0.83195633
142MP0001348_abnormal_lacrimal_gland0.82298343
143* MP0002429_abnormal_blood_cell0.81352136
144MP0004808_abnormal_hematopoietic_stem0.81194539
145MP0005257_abnormal_intraocular_pressure0.80915476
146MP0000516_abnormal_urinary_system0.80162447
147MP0005367_renal/urinary_system_phenotyp0.80162447
148MP0005381_digestive/alimentary_phenotyp0.79674169
149MP0001286_abnormal_eye_development0.79636880
150MP0005076_abnormal_cell_differentiation0.79105162
151* MP0000716_abnormal_immune_system0.78692479
152MP0002405_respiratory_system_inflammati0.77354017
153MP0002075_abnormal_coat/hair_pigmentati0.77292481
154MP0006054_spinal_hemorrhage0.76917258
155MP0002420_abnormal_adaptive_immunity0.76735806
156MP0001819_abnormal_immune_cell0.76431889
157MP0003186_abnormal_redox_activity0.76223795
158MP0003122_maternal_imprinting0.74218089
159MP0001145_abnormal_male_reproductive0.73140763
160MP0009763_increased_sensitivity_to0.72528771
161MP0002138_abnormal_hepatobiliary_system0.71486086
162* MP0003795_abnormal_bone_structure0.69393365
163MP0005584_abnormal_enzyme/coenzyme_acti0.69038397
164MP0000358_abnormal_cell_content/0.68998082
165MP0003221_abnormal_cardiomyocyte_apopto0.66617569
166MP0002877_abnormal_melanocyte_morpholog0.66153436
167MP0002332_abnormal_exercise_endurance0.65724127
168MP0005319_abnormal_enzyme/_coenzyme0.64941851
169MP0005501_abnormal_skin_physiology0.64511545
170MP0004185_abnormal_adipocyte_glucose0.63306268
171MP0009931_abnormal_skin_appearance0.62910182
172MP0003279_aneurysm0.60507467
173* MP0000609_abnormal_liver_physiology0.59239485
174MP0001216_abnormal_epidermal_layer0.59126744

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolipid metabolism (HP:0010969)4.10591529
2Abnormality of liposaccharide metabolism (HP:0010968)4.10591529
3Abnormality of glycosphingolipid metabolism (HP:0004343)4.10591529
4Type I transferrin isoform profile (HP:0003642)3.94791977
5Chromosomal breakage induced by crosslinking agents (HP:0003221)3.91537320
6Abnormality of macrophages (HP:0004311)3.88273975
7Birth length less than 3rd percentile (HP:0003561)3.78420573
8Eczematoid dermatitis (HP:0000976)3.73264033
9Recurrent abscess formation (HP:0002722)3.61267810
10Chromsome breakage (HP:0040012)3.41304734
11Recurrent bacterial skin infections (HP:0005406)3.40443526
12Breast hypoplasia (HP:0003187)3.35081673
13Meckel diverticulum (HP:0002245)3.34832688
14Dysostosis multiplex (HP:0000943)3.30474581
15Abnormality of the ileum (HP:0001549)3.29294250
16Increased cerebral lipofuscin (HP:0011813)3.29187120
17Chronic obstructive pulmonary disease (HP:0006510)3.29108374
18Obstructive lung disease (HP:0006536)3.29108374
19Mediastinal lymphadenopathy (HP:0100721)3.25918849
20Loss of speech (HP:0002371)3.23332766
21Aplasia/Hypoplasia of the patella (HP:0006498)3.21484398
22Elevated erythrocyte sedimentation rate (HP:0003565)3.17355418
23Patellar aplasia (HP:0006443)3.16586394
24Abnormality of the anterior horn cell (HP:0006802)3.15621814
25Degeneration of anterior horn cells (HP:0002398)3.15621814
26Vacuolated lymphocytes (HP:0001922)3.11484961
27Abnormal number of erythroid precursors (HP:0012131)3.06663077
28Impulsivity (HP:0100710)3.01471996
29Aplasia/Hypoplasia of the uvula (HP:0010293)2.99335696
30Rectal fistula (HP:0100590)2.98270513
31Rectovaginal fistula (HP:0000143)2.98270513
32Aplasia/Hypoplasia of the sacrum (HP:0008517)2.95784041
33Aplastic anemia (HP:0001915)2.93975443
34Intestinal fistula (HP:0100819)2.91832703
35Increased IgE level (HP:0003212)2.90482913
36Reduced antithrombin III activity (HP:0001976)2.90080682
37Abnormality of cells of the erythroid lineage (HP:0012130)2.89960392
38Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.87757762
39Ragged-red muscle fibers (HP:0003200)2.86006900
40Increased neuronal autofluorescent lipopigment (HP:0002074)2.85423712
41Abnormality of the preputium (HP:0100587)2.83652721
42Cellulitis (HP:0100658)2.81976199
43Hypertensive crisis (HP:0100735)2.80174838
44Type 2 muscle fiber atrophy (HP:0003554)2.77321693
45Absent thumb (HP:0009777)2.76800534
46Myositis (HP:0100614)2.76455988
47Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.72040346
48Muscle fiber atrophy (HP:0100295)2.71487844
49Reticulocytopenia (HP:0001896)2.69121243
50Tongue fasciculations (HP:0001308)2.63116249
51Supernumerary spleens (HP:0009799)2.62030577
52Abnormal gallbladder physiology (HP:0012438)2.60885013
53Cholecystitis (HP:0001082)2.60885013
54Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.60599854
55Systemic lupus erythematosus (HP:0002725)2.59551307
56Vertebral compression fractures (HP:0002953)2.58657553
57Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.53574043
58Rib fusion (HP:0000902)2.49395816
59Hepatosplenomegaly (HP:0001433)2.49189520
60Microretrognathia (HP:0000308)2.46611621
61Abnormal lung lobation (HP:0002101)2.46018156
62Petechiae (HP:0000967)2.43718544
63Microvesicular hepatic steatosis (HP:0001414)2.43035813
64Increased serum ferritin (HP:0003281)2.42731529
65Bone marrow hypocellularity (HP:0005528)2.41716381
66Nephroblastoma (Wilms tumor) (HP:0002667)2.40720719
673-Methylglutaconic aciduria (HP:0003535)2.40125866
68Vaginal fistula (HP:0004320)2.40091736
69Hypoplasia of the fovea (HP:0007750)2.38949460
70Aplasia/Hypoplasia of the fovea (HP:0008060)2.38949460
71Urticaria (HP:0001025)2.38900606
72Neuronal loss in central nervous system (HP:0002529)2.37938236
73Meningitis (HP:0001287)2.37669364
74Triphalangeal thumb (HP:0001199)2.36042535
75Abnormal protein glycosylation (HP:0012346)2.36034399
76Abnormal glycosylation (HP:0012345)2.36034399
77Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.36034399
78Abnormal protein N-linked glycosylation (HP:0012347)2.36034399
79Recurrent fungal infections (HP:0002841)2.35031935
80Orchitis (HP:0100796)2.33944129
81Prolonged neonatal jaundice (HP:0006579)2.33580065
82Mutism (HP:0002300)2.33143067
83Axonal loss (HP:0003447)2.28203182
84Embryonal renal neoplasm (HP:0011794)2.27386158
85Increased IgM level (HP:0003496)2.26776958
86Progressive neurologic deterioration (HP:0002344)2.26362998
87Duodenal stenosis (HP:0100867)2.25987770
88Small intestinal stenosis (HP:0012848)2.25987770
89Cleft eyelid (HP:0000625)2.24266383
90Clubbing of toes (HP:0100760)2.24124304
91Recurrent viral infections (HP:0004429)2.23599345
92Hypergammaglobulinemia (HP:0010702)2.22613747
93Absent radius (HP:0003974)2.21837040
94Abnormality of chromosome stability (HP:0003220)2.21231345
95Diminished motivation (HP:0000745)2.19945559
96Autoimmune thrombocytopenia (HP:0001973)2.19833727
97Carpal bone hypoplasia (HP:0001498)2.18600786
98Rough bone trabeculation (HP:0100670)2.18220074
99Myelodysplasia (HP:0002863)2.18123546
100Abnormality of mucopolysaccharide metabolism (HP:0011020)2.17224070
101Abnormality of polysaccharide metabolism (HP:0011012)2.17224070
102Abnormality of glycosaminoglycan metabolism (HP:0004371)2.17224070
103Muscle fibrillation (HP:0010546)2.16269704
104Recurrent gram-negative bacterial infections (HP:0005420)2.13444508
105J-shaped sella turcica (HP:0002680)2.13039860
106Stomatitis (HP:0010280)2.12438956
107Gastrointestinal stroma tumor (HP:0100723)2.11059798
108Purpura (HP:0000979)2.10927141
109Thin bony cortex (HP:0002753)2.10179082
110Premature graying of hair (HP:0002216)2.09279334
111Gastrointestinal inflammation (HP:0004386)2.08227948
112Apathy (HP:0000741)2.06898894
113Premature loss of primary teeth (HP:0006323)2.06646416
114Aplasia involving forearm bones (HP:0009822)2.06511146
115Absent forearm bone (HP:0003953)2.06511146
116Distal upper limb amyotrophy (HP:0007149)2.06460614
117Upper limb amyotrophy (HP:0009129)2.06460614
118Optic nerve coloboma (HP:0000588)2.04449702
119Hypoplasia of the radius (HP:0002984)2.03501193
120Agammaglobulinemia (HP:0004432)2.03261161
121Segmental peripheral demyelination/remyelination (HP:0003481)2.03150813
122Progressive muscle weakness (HP:0003323)2.02723966
123Cerebral hypomyelination (HP:0006808)2.02469061
124Absent rod-and cone-mediated responses on ERG (HP:0007688)2.02328137
125Nuclear cataract (HP:0100018)2.01819046
126Growth hormone excess (HP:0000845)2.00329597
127Recurrent skin infections (HP:0001581)2.00240494
128Hyperparathyroidism (HP:0000843)1.99508547
129Amyloidosis (HP:0011034)1.98141912
130Gingivitis (HP:0000230)1.97673567
131Gastrointestinal infarctions (HP:0005244)1.97589736
132Upper motor neuron abnormality (HP:0002127)1.97175722
133Tracheoesophageal fistula (HP:0002575)1.96749712
134Sepsis (HP:0100806)1.96527278
135Urinary glycosaminoglycan excretion (HP:0003541)1.95782729
136Mucopolysacchariduria (HP:0008155)1.95782729
137Achilles tendon contracture (HP:0001771)1.95467913
138Pustule (HP:0200039)1.95134353
139Supranuclear gaze palsy (HP:0000605)1.94456398
140Bilateral microphthalmos (HP:0007633)1.94057484
141Hypothermia (HP:0002045)1.92436521
142Pallor (HP:0000980)1.92329387
143Vasculitis (HP:0002633)1.91215559
144Poor head control (HP:0002421)1.91156397
145Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.91053476
146Abnormal enzyme/coenzyme activity (HP:0012379)1.90986913
147Sparse eyelashes (HP:0000653)1.90730012
148Abnormality of alkaline phosphatase activity (HP:0004379)1.90565546
149Distal lower limb amyotrophy (HP:0008944)1.89980517
150Elevated alkaline phosphatase (HP:0003155)1.89949459
151Ectopic kidney (HP:0000086)1.89904531
152True hermaphroditism (HP:0010459)1.89617497
153Pendular nystagmus (HP:0012043)1.89585385
154Lymphopenia (HP:0001888)1.87480972
155Polygenic inheritance (HP:0010982)1.87460793
156Increased muscle lipid content (HP:0009058)1.86992497
157Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.86878183
158Abnormality of the phalanges of the hallux (HP:0010057)1.86392562
15911 pairs of ribs (HP:0000878)1.86339952
160Stridor (HP:0010307)1.85087407
161Oral leukoplakia (HP:0002745)1.84864238
162Hemorrhage of the eye (HP:0011885)1.84103346
163Abnormality of the duodenum (HP:0002246)1.83172040
164Abnormality of the nasal mucosa (HP:0000433)1.81681776
165Abnormality of cells of the lymphoid lineage (HP:0012140)1.81598011
166Interstitial pulmonary disease (HP:0006530)1.79934979
167Gastrointestinal dysmotility (HP:0002579)1.78983386
168Abnormality of the motor neurons (HP:0002450)1.78600350
169Abnormal neuron morphology (HP:0012757)1.78600350
170Centrally nucleated skeletal muscle fibers (HP:0003687)1.78501177
171Sloping forehead (HP:0000340)1.76557123
172Abnormal trabecular bone morphology (HP:0100671)1.76059221
173Cheilitis (HP:0100825)1.74967898
174Long palpebral fissure (HP:0000637)1.74852230
175Trismus (HP:0000211)1.73864456
176Pathologic fracture (HP:0002756)1.73860034
177Granulocytopenia (HP:0001913)1.73801723
178Premature ovarian failure (HP:0008209)1.73688841
179Exertional dyspnea (HP:0002875)1.73537436
180Colitis (HP:0002583)1.73225311
181Anencephaly (HP:0002323)1.73204917
182Myopathic facies (HP:0002058)1.72607865
183Broad face (HP:0000283)1.72591078
184Horseshoe kidney (HP:0000085)1.72304900
185Short middle phalanx of the 5th finger (HP:0004220)1.72102459
186Selective tooth agenesis (HP:0001592)1.71651714
187Pancreatic fibrosis (HP:0100732)1.71269738
188Pancytopenia (HP:0001876)1.69761165
189Abnormal number of incisors (HP:0011064)1.69434436
190Increased serum lactate (HP:0002151)1.68858363
191Severe visual impairment (HP:0001141)1.68598185
192Atrophy/Degeneration involving motor neurons (HP:0007373)1.68460782
193Pancreatic cysts (HP:0001737)1.67870412
194Progressive external ophthalmoplegia (HP:0000590)1.67142373
195Testicular atrophy (HP:0000029)1.65324252
196Aplasia/hypoplasia of the humerus (HP:0006507)1.63719194
197Facial cleft (HP:0002006)1.62110548

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB13.81263804
2ERN13.64558914
3MKNK23.27834503
4SRPK12.94720934
5MKNK12.90044319
6MAP4K12.83197382
7WEE12.74700622
8TESK12.73066031
9AKT32.72119973
10NME22.46662440
11TRIB32.45936530
12TAOK22.39589417
13PLK42.38987262
14IRAK32.35582248
15CASK2.29607162
16STK162.27880450
17SMG12.14878140
18TBK12.12009749
19PRPF4B2.11745707
20PIM22.03971337
21IRAK42.02644369
22TLK11.99324995
23EIF2AK11.98356530
24KDR1.93532484
25ZAK1.92038704
26TSSK61.80513213
27YES11.71838228
28VRK11.68611079
29MAP2K31.67551537
30SIK11.66899416
31EIF2AK21.62381985
32PLK11.62094227
33CDK71.55722655
34TAOK11.54960718
35BCKDK1.49299442
36RIPK41.49106581
37VRK21.48806631
38ARAF1.46999689
39PIM11.39399419
40ICK1.38217820
41EPHB11.36601023
42EPHA21.35476322
43TYK21.34164646
44CLK11.33721944
45ACVR1B1.31951612
46BRSK21.31444434
47TTK1.30580531
48EIF2AK31.25989284
49LIMK11.23371282
50BLK1.23204721
51CHEK21.20539576
52IKBKB1.19421759
53SIK21.18397831
54PRKD31.13634160
55AURKA1.13349622
56DYRK31.12751769
57ADRBK21.12191289
58PRKD21.11841327
59PLK31.11799170
60CDK121.09950496
61TNK21.08313415
62TESK21.08040339
63CSK1.03885283
64ZAP701.03413020
65CDC71.02029692
66BMPR21.01544668
67MAP3K31.01480555
68TNIK1.00142169
69MAP3K10.99537453
70NEK20.97883625
71GRK50.97088554
72BRSK10.96097424
73DYRK20.94557195
74CDK80.94534645
75MATK0.94077919
76ABL20.93989845
77NLK0.93851544
78MAP3K140.93396394
79MUSK0.92517848
80STK38L0.92361415
81ATR0.90860103
82GRK70.90774648
83ERBB30.88454464
84RPS6KB20.88397698
85BRAF0.85349569
86CHUK0.83809989
87MAP3K130.83267051
88FES0.82777731
89AURKB0.82706259
90TXK0.82113493
91GRK60.81320295
92PTK60.81045481
93LMTK20.78398020
94GRK10.75237141
95MARK20.75096362
96MAP3K110.74756893
97RIPK10.74710986
98STK40.74421833
99DYRK1B0.73511833
100SIK30.72357880
101CDC42BPA0.71029817
102LRRK20.68936930
103EPHB20.68191920
104IRAK20.68067572
105RPS6KA20.67718196
106SCYL20.66621567
107CSNK2A10.65908390
108BMX0.65732095
109MAP3K80.65230609
110EEF2K0.64965261
111PRKCI0.64673813
112BRD40.63571266
113SYK0.61431385
114MST1R0.61346933
115DAPK10.60258061
116CSF1R0.60126648
117DAPK30.60038895
118MAPK130.59123612
119MAP2K70.58983517
120MAP3K50.58583703
121IKBKE0.57913429
122STK100.57692921
123MAP2K20.57003453
124RPS6KA40.56060488
125MAP3K120.53828523
126PDPK10.53651951
127FGR0.53491775
128KSR20.53000256
129HCK0.52268901
130CCNB10.51546735
131RPS6KC10.51094549
132RPS6KL10.51094549
133SGK20.50450433
134PKN20.49091062
135MAPK110.48733448
136CHEK10.48488545
137TEC0.47815480
138DDR20.47791502
139PAK10.47203530
140IRAK10.47044807
141LCK0.46232008
142RPS6KA60.45495667
143HIPK20.45183683
144STK240.44519210
145CDK20.43976582
146CSNK1G30.42225053
147CSNK2A20.41881026
148PRKG20.41864999
149MOS0.41453810
150MAPKAPK30.40687256
151CDK40.40523835
152CDK140.39791261
153MAPK120.39544809
154JAK30.39420207
155MAP3K60.39232016
156KIT0.38812911
157MAPKAPK20.38138085
158BTK0.38008870
159NEK90.36519600
160PAK40.35065181
161LYN0.34738216
162CDK190.33603711
163FLT30.33351956

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.04788412
2RNA polymerase_Homo sapiens_hsa030203.48287146
3Ribosome_Homo sapiens_hsa030103.34417986
4Proteasome_Homo sapiens_hsa030503.31903434
5Mismatch repair_Homo sapiens_hsa034303.31554100
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.20554575
7Base excision repair_Homo sapiens_hsa034103.11106240
8Homologous recombination_Homo sapiens_hsa034402.94104804
9Spliceosome_Homo sapiens_hsa030402.74437823
10Pyrimidine metabolism_Homo sapiens_hsa002402.40213945
11Fanconi anemia pathway_Homo sapiens_hsa034602.37619526
12Nucleotide excision repair_Homo sapiens_hsa034202.36660421
13Osteoclast differentiation_Homo sapiens_hsa043802.22347968
14RNA transport_Homo sapiens_hsa030132.20534675
15Basal transcription factors_Homo sapiens_hsa030222.17326608
16Lysosome_Homo sapiens_hsa041422.15781837
17Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.10065038
18Glycosaminoglycan degradation_Homo sapiens_hsa005312.06611673
19Cell cycle_Homo sapiens_hsa041102.05547768
20Cyanoamino acid metabolism_Homo sapiens_hsa004602.02293708
21Salmonella infection_Homo sapiens_hsa051322.00853544
22One carbon pool by folate_Homo sapiens_hsa006701.82198829
23Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.67728165
24Non-homologous end-joining_Homo sapiens_hsa034501.65372013
25Tuberculosis_Homo sapiens_hsa051521.63015486
26B cell receptor signaling pathway_Homo sapiens_hsa046621.55067882
27p53 signaling pathway_Homo sapiens_hsa041151.54741882
28RNA degradation_Homo sapiens_hsa030181.54033787
29Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.50408388
30Rheumatoid arthritis_Homo sapiens_hsa053231.47533170
31Vibrio cholerae infection_Homo sapiens_hsa051101.45443939
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.40915830
33Purine metabolism_Homo sapiens_hsa002301.38373301
34Staphylococcus aureus infection_Homo sapiens_hsa051501.37552019
35Phagosome_Homo sapiens_hsa041451.37001735
36Bladder cancer_Homo sapiens_hsa052191.35700311
37Prion diseases_Homo sapiens_hsa050201.31848703
38Viral myocarditis_Homo sapiens_hsa054161.31743387
39mRNA surveillance pathway_Homo sapiens_hsa030151.30909528
40TNF signaling pathway_Homo sapiens_hsa046681.28513171
41Epstein-Barr virus infection_Homo sapiens_hsa051691.24576204
42Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.21378576
43Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.14438596
44Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.14150699
45Herpes simplex infection_Homo sapiens_hsa051681.11831266
46Malaria_Homo sapiens_hsa051441.11028427
47Endocytosis_Homo sapiens_hsa041441.10710882
48Primary immunodeficiency_Homo sapiens_hsa053401.08142167
49Hepatitis C_Homo sapiens_hsa051601.06090480
50VEGF signaling pathway_Homo sapiens_hsa043701.04469923
51Arachidonic acid metabolism_Homo sapiens_hsa005901.01305149
52Toxoplasmosis_Homo sapiens_hsa051451.00899017
53Vitamin B6 metabolism_Homo sapiens_hsa007501.00186668
54Huntingtons disease_Homo sapiens_hsa050160.99350338
55Allograft rejection_Homo sapiens_hsa053300.94959955
56Protein export_Homo sapiens_hsa030600.94159663
57Intestinal immune network for IgA production_Homo sapiens_hsa046720.93641805
58Thyroid cancer_Homo sapiens_hsa052160.91533148
59Fructose and mannose metabolism_Homo sapiens_hsa000510.90143329
60Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.89033826
61RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.88463957
62Collecting duct acid secretion_Homo sapiens_hsa049660.87935255
63Biosynthesis of amino acids_Homo sapiens_hsa012300.87311187
64T cell receptor signaling pathway_Homo sapiens_hsa046600.87175006
65Chemokine signaling pathway_Homo sapiens_hsa040620.83438204
66Measles_Homo sapiens_hsa051620.83276014
67Galactose metabolism_Homo sapiens_hsa000520.81533148
68Other glycan degradation_Homo sapiens_hsa005110.80645883
69NF-kappa B signaling pathway_Homo sapiens_hsa040640.80093803
70Synaptic vesicle cycle_Homo sapiens_hsa047210.79945835
71Notch signaling pathway_Homo sapiens_hsa043300.79928168
72Folate biosynthesis_Homo sapiens_hsa007900.78926077
73Oxidative phosphorylation_Homo sapiens_hsa001900.77991602
74Sulfur relay system_Homo sapiens_hsa041220.77509505
75Chronic myeloid leukemia_Homo sapiens_hsa052200.77378069
762-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.76109580
77Legionellosis_Homo sapiens_hsa051340.75861441
78Parkinsons disease_Homo sapiens_hsa050120.74849011
79Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.71904791
80Pancreatic cancer_Homo sapiens_hsa052120.71505107
81Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.71098372
82Graft-versus-host disease_Homo sapiens_hsa053320.70430972
83Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67330648
84Transcriptional misregulation in cancer_Homo sapiens_hsa052020.66907063
85Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.66709992
86Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66339618
87Neurotrophin signaling pathway_Homo sapiens_hsa047220.65645686
88Leukocyte transendothelial migration_Homo sapiens_hsa046700.64974428
89Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63320495
90Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.61629659
91HTLV-I infection_Homo sapiens_hsa051660.61210949
92Regulation of autophagy_Homo sapiens_hsa041400.60854114
93Antigen processing and presentation_Homo sapiens_hsa046120.60770915
94African trypanosomiasis_Homo sapiens_hsa051430.59838448
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59772534
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.58444952
97Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57767178
98Sulfur metabolism_Homo sapiens_hsa009200.55606758
99Apoptosis_Homo sapiens_hsa042100.55514149
100* Central carbon metabolism in cancer_Homo sapiens_hsa052300.54756830
101Acute myeloid leukemia_Homo sapiens_hsa052210.54575097
102Viral carcinogenesis_Homo sapiens_hsa052030.54384354
103Pentose phosphate pathway_Homo sapiens_hsa000300.53837900
104Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.53527242
105Non-small cell lung cancer_Homo sapiens_hsa052230.52434313
106Shigellosis_Homo sapiens_hsa051310.52369717
107Asthma_Homo sapiens_hsa053100.51857732
108Adipocytokine signaling pathway_Homo sapiens_hsa049200.51631684
109Basal cell carcinoma_Homo sapiens_hsa052170.51504990
110Autoimmune thyroid disease_Homo sapiens_hsa053200.51071121
111Influenza A_Homo sapiens_hsa051640.47453648
112Carbon metabolism_Homo sapiens_hsa012000.45999551
113Oocyte meiosis_Homo sapiens_hsa041140.45210932
114Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.45126290
115Hematopoietic cell lineage_Homo sapiens_hsa046400.45043062
116Sphingolipid signaling pathway_Homo sapiens_hsa040710.44878027
117Leishmaniasis_Homo sapiens_hsa051400.44474551
118Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.43653566
119NOD-like receptor signaling pathway_Homo sapiens_hsa046210.42153183
120N-Glycan biosynthesis_Homo sapiens_hsa005100.41287098
121Jak-STAT signaling pathway_Homo sapiens_hsa046300.40116778
122Hepatitis B_Homo sapiens_hsa051610.39987711
123Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38419798
124Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.34808970
125Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.33799651
126Type I diabetes mellitus_Homo sapiens_hsa049400.33379206
127Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.32193689
128Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.31808286
129Wnt signaling pathway_Homo sapiens_hsa043100.31499690
130Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.29531760
131Glutathione metabolism_Homo sapiens_hsa004800.28979023
132Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.28555994
133Hippo signaling pathway_Homo sapiens_hsa043900.27989562
134Hedgehog signaling pathway_Homo sapiens_hsa043400.27461134
135Phototransduction_Homo sapiens_hsa047440.27193787
136Pathways in cancer_Homo sapiens_hsa052000.26433047
137Alzheimers disease_Homo sapiens_hsa050100.25060366
138Toll-like receptor signaling pathway_Homo sapiens_hsa046200.24646886
139Metabolic pathways_Homo sapiens_hsa011000.24517760
140Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.24174934
141MicroRNAs in cancer_Homo sapiens_hsa052060.23830740
142Colorectal cancer_Homo sapiens_hsa052100.23547952
143Small cell lung cancer_Homo sapiens_hsa052220.22742658
144Drug metabolism - other enzymes_Homo sapiens_hsa009830.22243462
145Systemic lupus erythematosus_Homo sapiens_hsa053220.18561905
146Pertussis_Homo sapiens_hsa051330.17954245

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