POGLUT1

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 protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1NIK/NF-kappaB signaling (GO:0038061)5.65244602
2regulation of activation of Janus kinase activity (GO:0010533)5.51236782
3regulation of dendritic cell antigen processing and presentation (GO:0002604)5.00182797
4respiratory chain complex IV assembly (GO:0008535)4.67695684
5proteasome assembly (GO:0043248)4.38470219
6DNA deamination (GO:0045006)4.32916949
7regulation of T-helper 1 cell differentiation (GO:0045625)4.20441352
8water-soluble vitamin biosynthetic process (GO:0042364)4.17611698
9cytochrome complex assembly (GO:0017004)4.07571264
10lactate metabolic process (GO:0006089)3.91300880
11replication fork processing (GO:0031297)3.90451432
12positive regulation of T-helper cell differentiation (GO:0045624)3.80452568
13regulation of memory T cell differentiation (GO:0043380)3.69733421
14positive regulation of interleukin-12 production (GO:0032735)3.53631515
15neutrophil activation involved in immune response (GO:0002283)3.52857592
16rRNA modification (GO:0000154)3.50730465
17response to pheromone (GO:0019236)3.46497349
18rRNA methylation (GO:0031167)3.46069226
19mannosylation (GO:0097502)3.45406518
20synapsis (GO:0007129)3.44761945
21protein complex biogenesis (GO:0070271)3.44364031
22cullin deneddylation (GO:0010388)3.42355945
23negative regulation of DNA-dependent DNA replication (GO:2000104)3.41907336
24exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.40885315
25regulation of RIG-I signaling pathway (GO:0039535)3.40881885
26neutrophil activation (GO:0042119)3.36116637
27regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.35321174
28nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.33643492
29positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.31698897
30L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.30483830
31mitochondrial respiratory chain complex assembly (GO:0033108)3.28847204
32keratinocyte development (GO:0003334)3.24396730
33dendritic cell chemotaxis (GO:0002407)3.23900419
34platelet dense granule organization (GO:0060155)3.23657868
35pseudouridine synthesis (GO:0001522)3.23198847
36signal peptide processing (GO:0006465)3.22342678
37RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.20572738
38myeloid dendritic cell differentiation (GO:0043011)3.18352180
39regulation of antigen processing and presentation (GO:0002577)3.18102368
40regulation of ER to Golgi vesicle-mediated transport (GO:0060628)3.17365602
41positive regulation of pseudopodium assembly (GO:0031274)3.14437092
42protein deneddylation (GO:0000338)3.13792485
43neural tube formation (GO:0001841)3.13550148
44histone H2A acetylation (GO:0043968)3.12736159
45regulation of nuclear cell cycle DNA replication (GO:0033262)3.12280836
46positive regulation of antigen processing and presentation (GO:0002579)3.09717751
47anterograde synaptic vesicle transport (GO:0048490)3.09513921
48regulation of helicase activity (GO:0051095)3.09034802
49regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)3.06210786
50preassembly of GPI anchor in ER membrane (GO:0016254)3.06119678
51dendritic cell migration (GO:0036336)3.05297279
52establishment of protein localization to mitochondrial membrane (GO:0090151)3.04194618
53somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.04049258
54somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.04049258
55isotype switching (GO:0045190)3.04049258
56positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.03426033
57branched-chain amino acid catabolic process (GO:0009083)3.03404424
58peptidyl-histidine modification (GO:0018202)3.03203563
59positive regulation of histone H3-K4 methylation (GO:0051571)3.02745845
60granulocyte activation (GO:0036230)3.00715119
61T-helper 1 type immune response (GO:0042088)3.00512166
62positive regulation of alpha-beta T cell proliferation (GO:0046641)2.99314252
63mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.98582602
64mitochondrial respiratory chain complex I assembly (GO:0032981)2.98582602
65NADH dehydrogenase complex assembly (GO:0010257)2.98582602
66maturation of 5.8S rRNA (GO:0000460)2.97611681
67L-fucose catabolic process (GO:0042355)2.97343441
68fucose catabolic process (GO:0019317)2.97343441
69L-fucose metabolic process (GO:0042354)2.97343441
70regulation of T-helper cell differentiation (GO:0045622)2.96155397
71intraciliary transport (GO:0042073)2.95760605
72signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.93610952
73signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.93610952
74signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.93610952
75regulation of cellular amino acid metabolic process (GO:0006521)2.91297020
76protein-cofactor linkage (GO:0018065)2.91044200
77protein prenylation (GO:0018342)2.90294433
78prenylation (GO:0097354)2.90294433
79regulation of meiosis I (GO:0060631)2.89245147
80negative thymic T cell selection (GO:0045060)2.89039104
81intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.88331192
82signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.88331192
83maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.88169642
84recombinational repair (GO:0000725)2.86376265
85dendritic cell differentiation (GO:0097028)2.86318466
86positive regulation of T-helper 1 type immune response (GO:0002827)2.86115550
87positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.85719322
88double-strand break repair via homologous recombination (GO:0000724)2.85124753
89response to prostaglandin E (GO:0034695)2.83510509
90negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.81889724
91regulation of T-helper 2 cell differentiation (GO:0045628)2.80728808
92signal transduction involved in cell cycle checkpoint (GO:0072395)2.78959639
93myeloid dendritic cell activation (GO:0001773)2.78881822
94regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.78852482
95C-terminal protein lipidation (GO:0006501)2.78087636
96regulation of pseudopodium assembly (GO:0031272)2.76954629
97regulation of T-helper 1 type immune response (GO:0002825)2.76379261
98regulation of glucokinase activity (GO:0033131)2.75310446
99regulation of hexokinase activity (GO:1903299)2.75310446
100amino acid salvage (GO:0043102)2.75004224
101L-methionine salvage (GO:0071267)2.75004224
102L-methionine biosynthetic process (GO:0071265)2.75004224
103inositol phosphate catabolic process (GO:0071545)2.74060893
104negative T cell selection (GO:0043383)2.73313778
105signal transduction involved in DNA damage checkpoint (GO:0072422)2.73204196
106signal transduction involved in DNA integrity checkpoint (GO:0072401)2.73204196
107somatic diversification of immune receptors via somatic mutation (GO:0002566)2.72116696
108somatic hypermutation of immunoglobulin genes (GO:0016446)2.72116696
109ubiquinone biosynthetic process (GO:0006744)2.70243286
110protein localization to cilium (GO:0061512)2.69454015
111S-adenosylmethionine metabolic process (GO:0046500)2.67243162
112indolalkylamine metabolic process (GO:0006586)2.66645152
113detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.66006852
114positive regulation of natural killer cell differentiation (GO:0032825)2.65895806
115positive regulation of T cell apoptotic process (GO:0070234)2.64693879
116indolalkylamine catabolic process (GO:0046218)2.64290718
117tryptophan catabolic process (GO:0006569)2.64290718
118indole-containing compound catabolic process (GO:0042436)2.64290718
119regulation of alpha-beta T cell proliferation (GO:0046640)2.63344108
120C-terminal protein amino acid modification (GO:0018410)2.63045874
121cellular ketone body metabolic process (GO:0046950)2.62082702
122cell wall macromolecule catabolic process (GO:0016998)2.61978494
123positive regulation of protein homooligomerization (GO:0032464)2.61707222
124termination of RNA polymerase III transcription (GO:0006386)2.61119999
125transcription elongation from RNA polymerase III promoter (GO:0006385)2.61119999
126tRNA processing (GO:0008033)2.60808147
127DNA double-strand break processing (GO:0000729)2.60648363
128positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.60241897
129positive regulation of type 2 immune response (GO:0002830)2.60154954
130tryptophan metabolic process (GO:0006568)2.59897957
131dopamine transport (GO:0015872)2.59368352
132positive regulation of interleukin-17 production (GO:0032740)2.57563611
133negative regulation by host of viral transcription (GO:0043922)2.57543944
134ubiquinone metabolic process (GO:0006743)2.57326147
135positive regulation of cell size (GO:0045793)2.56681036
136monocyte chemotaxis (GO:0002548)2.55759168
137behavioral response to nicotine (GO:0035095)2.55487771
138histone H2A ubiquitination (GO:0033522)2.55182120
139negative regulation of neurological system process (GO:0031645)2.54666957
140T-helper cell differentiation (GO:0042093)2.53745201
141CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.53745201
142protein K6-linked ubiquitination (GO:0085020)2.52732331
143regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)2.52430125
144histone mRNA metabolic process (GO:0008334)2.52086337
145positive regulation of monocyte chemotaxis (GO:0090026)2.50172468
146natural killer cell mediated cytotoxicity (GO:0042267)2.48703935
147natural killer cell mediated immunity (GO:0002228)2.48703935
148opioid receptor signaling pathway (GO:0038003)2.47367305
149positive regulation of T cell cytokine production (GO:0002726)2.46782655
150regulation of immunoglobulin secretion (GO:0051023)2.45655391
151eosinophil chemotaxis (GO:0048245)2.44933469
152regulation of T cell tolerance induction (GO:0002664)2.42259027
153positive regulation of glycoprotein biosynthetic process (GO:0010560)2.38432563
154negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)2.37491812
155regulation of hypersensitivity (GO:0002883)2.36826004
156positive regulation of lymphocyte apoptotic process (GO:0070230)2.36448716
157regulation of interleukin-12 production (GO:0032655)2.36233703
158regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.36134910
159IMP biosynthetic process (GO:0006188)2.35074050
160positive regulation of T cell chemotaxis (GO:0010820)2.33854126
161regulation of T cell chemotaxis (GO:0010819)2.33854126
162nuclear pore organization (GO:0006999)2.31699718
163positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.29351227
164necroptotic process (GO:0070266)2.28863036
165natural killer cell activation involved in immune response (GO:0002323)2.27979598
166alpha-beta T cell differentiation involved in immune response (GO:0002293)2.25946593
167alpha-beta T cell activation involved in immune response (GO:0002287)2.25946593
168T cell differentiation involved in immune response (GO:0002292)2.25946593
169positive regulation of protein kinase C signaling (GO:0090037)2.20819412
170DNA replication initiation (GO:0006270)2.20133365
171daunorubicin metabolic process (GO:0044597)2.19775128
172polyketide metabolic process (GO:0030638)2.19775128
173doxorubicin metabolic process (GO:0044598)2.19775128
174DNA catabolic process, exonucleolytic (GO:0000738)2.19372178
175positive regulation of interleukin-2 production (GO:0032743)2.18545563
176regulation of chemokine-mediated signaling pathway (GO:0070099)2.18519817
177negative regulation of interleukin-17 production (GO:0032700)2.17399972
178positive regulation of protein oligomerization (GO:0032461)2.17248449
179nuclear pore complex assembly (GO:0051292)2.16535617
180protein neddylation (GO:0045116)2.16115522
181eosinophil migration (GO:0072677)2.14937028
182regulation of necroptotic process (GO:0060544)2.13432530
183response to prostaglandin (GO:0034694)2.12284291
184growth hormone receptor signaling pathway (GO:0060396)2.11531914
185regulation of CD4-positive, alpha-beta T cell activation (GO:2000514)2.09756185
186sequestering of actin monomers (GO:0042989)2.09741137
187tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.07177937
188RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.07177937
189positive regulation of defense response to virus by host (GO:0002230)2.06275744
190regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.04620188
191DNA strand elongation involved in DNA replication (GO:0006271)2.04226330
192cellular response to interferon-beta (GO:0035458)2.03398339
193DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.02799044
194meiotic chromosome segregation (GO:0045132)2.02317241
195regulation of fibroblast apoptotic process (GO:2000269)2.02302945
196positive regulation of inflammatory response to antigenic stimulus (GO:0002863)2.02088880

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.15476040
2IRF8_21731497_ChIP-ChIP_J774_Mouse3.20482071
3ZNF274_21170338_ChIP-Seq_K562_Hela3.12840007
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.05050493
5SALL1_21062744_ChIP-ChIP_HESCs_Human3.01994051
6VDR_22108803_ChIP-Seq_LS180_Human2.93640870
7SMAD_19615063_ChIP-ChIP_OVARY_Human2.93340770
8EGR1_19374776_ChIP-ChIP_THP-1_Human2.69224325
9FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.65088436
10FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.59058724
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.44422544
12E2F4_17652178_ChIP-ChIP_JURKAT_Human2.39999852
13IRF8_22096565_ChIP-ChIP_GC-B_Human2.38133411
14MYC_18555785_ChIP-Seq_MESCs_Mouse2.29171092
15ELF1_17652178_ChIP-ChIP_JURKAT_Human2.18605798
16GABP_17652178_ChIP-ChIP_JURKAT_Human2.15723806
17NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.12262180
18KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.02267584
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.01015172
20SOX2_18555785_ChIP-Seq_MESCs_Mouse1.97376766
21ELK1_19687146_ChIP-ChIP_HELA_Human1.95896285
22KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.95266648
23KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.95266648
24KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.95266648
25EST1_17652178_ChIP-ChIP_JURKAT_Human1.94399580
26TAF15_26573619_Chip-Seq_HEK293_Human1.93615152
27NANOG_18555785_ChIP-Seq_MESCs_Mouse1.91673468
28MYC_19079543_ChIP-ChIP_MESCs_Mouse1.91658468
29KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.82494409
30POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.79908493
31MYC_19030024_ChIP-ChIP_MESCs_Mouse1.77267641
32BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.69447645
33CREB1_15753290_ChIP-ChIP_HEK293T_Human1.68862932
34NELFA_20434984_ChIP-Seq_ESCs_Mouse1.67127253
35HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.66941037
36NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.65980950
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64543239
38MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.63169177
39AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.61187508
40SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.59132194
41EZH2_27294783_Chip-Seq_NPCs_Mouse1.57962000
42CTBP2_25329375_ChIP-Seq_LNCAP_Human1.57615255
43SUZ12_27294783_Chip-Seq_NPCs_Mouse1.54246242
44PCGF2_27294783_Chip-Seq_NPCs_Mouse1.52698938
45POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.51254883
46SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.50923570
47HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.50270490
48NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.47972043
49VDR_23849224_ChIP-Seq_CD4+_Human1.47746072
50TP63_17297297_ChIP-ChIP_HaCaT_Human1.47675578
51NFE2_27457419_Chip-Seq_LIVER_Mouse1.45830740
52E2F1_18555785_ChIP-Seq_MESCs_Mouse1.44440147
53IGF1R_20145208_ChIP-Seq_DFB_Human1.44415432
54CTBP1_25329375_ChIP-Seq_LNCAP_Human1.44249672
55EWS_26573619_Chip-Seq_HEK293_Human1.43737255
56ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.42577684
57SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.41393590
58JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.40850131
59GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39552832
60POU5F1_16153702_ChIP-ChIP_HESCs_Human1.38813275
61MYC_18940864_ChIP-ChIP_HL60_Human1.38527177
62EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.35688938
63TFEB_21752829_ChIP-Seq_HELA_Human1.35428435
64FLI1_27457419_Chip-Seq_LIVER_Mouse1.34955597
65ZFP57_27257070_Chip-Seq_ESCs_Mouse1.34937166
66SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.34838531
67TCF3_18692474_ChIP-Seq_MEFs_Mouse1.34644815
68CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.33695256
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.32537906
70MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.32307437
71IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.32127344
72CRX_20693478_ChIP-Seq_RETINA_Mouse1.29030294
73NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.28928367
74BCAT_22108803_ChIP-Seq_LS180_Human1.27280266
75NANOG_18555785_Chip-Seq_ESCs_Mouse1.27226830
76CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.27132998
77RBPJ_22232070_ChIP-Seq_NCS_Mouse1.27098893
78CBP_20019798_ChIP-Seq_JUKART_Human1.26241549
79IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.26241549
80SMAD4_21799915_ChIP-Seq_A2780_Human1.26120092
81SRF_21415370_ChIP-Seq_HL-1_Mouse1.25820672
82MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25701656
83NANOG_19829295_ChIP-Seq_ESCs_Human1.25000512
84SOX2_19829295_ChIP-Seq_ESCs_Human1.25000512
85TP53_22573176_ChIP-Seq_HFKS_Human1.22850588
86MYC_18358816_ChIP-ChIP_MESCs_Mouse1.22568991
87POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.21948759
88ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.21916197
89EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.21418703
90THAP11_20581084_ChIP-Seq_MESCs_Mouse1.21284087
91* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.21017568
92RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.20209063
93* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.19590144
94STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.18923763
95PCGF2_27294783_Chip-Seq_ESCs_Mouse1.18830236
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.18681792
97RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.16958037
98TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.16846896
99* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.16697693
100P53_22387025_ChIP-Seq_ESCs_Mouse1.16557280
101FUS_26573619_Chip-Seq_HEK293_Human1.16237635
102AR_25329375_ChIP-Seq_VCAP_Human1.16187041
103STAT4_19710469_ChIP-ChIP_TH1__Mouse1.15211256
104ETS1_20019798_ChIP-Seq_JURKAT_Human1.15203401
105TCF4_22108803_ChIP-Seq_LS180_Human1.15073123
106TCF3_18692474_ChIP-Seq_MESCs_Mouse1.13956254
107FOXA1_27270436_Chip-Seq_PROSTATE_Human1.13312935
108FOXA1_25329375_ChIP-Seq_VCAP_Human1.13312935
109KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.13259535
110SMAD3_21741376_ChIP-Seq_EPCs_Human1.12728369
111HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.11391216
112KLF5_20875108_ChIP-Seq_MESCs_Mouse1.11318497
113SUZ12_18555785_Chip-Seq_ESCs_Mouse1.11190269
114P300_18555785_Chip-Seq_ESCs_Mouse1.10961135
115IRF1_19129219_ChIP-ChIP_H3396_Human1.10844876
116ELK1_22589737_ChIP-Seq_MCF10A_Human1.10559850
117NOTCH1_21737748_ChIP-Seq_TLL_Human1.10544066
118PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10134851
119STAT3_18555785_Chip-Seq_ESCs_Mouse1.09953739
120SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.09875623
121STAT3_23295773_ChIP-Seq_U87_Human1.09482830
122EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09295842
123FOXA1_21572438_ChIP-Seq_LNCaP_Human1.08689026
124SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.08475433
125FLI1_21867929_ChIP-Seq_TH2_Mouse1.08471394
126E2F1_21310950_ChIP-Seq_MCF-7_Human1.08451748
127PIAS1_25552417_ChIP-Seq_VCAP_Human1.08442987
128E2F1_18555785_Chip-Seq_ESCs_Mouse1.07888231
129HOXB4_20404135_ChIP-ChIP_EML_Mouse1.07500539
130HTT_18923047_ChIP-ChIP_STHdh_Human1.06554216
131HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.05937917
132DCP1A_22483619_ChIP-Seq_HELA_Human1.05395311
133CDX2_22108803_ChIP-Seq_LS180_Human1.05133969
134AR_20517297_ChIP-Seq_VCAP_Human1.03296257
135OCT4_21477851_ChIP-Seq_ESCs_Mouse1.03139232
136SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.01947033
137PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01034423
138WT1_19549856_ChIP-ChIP_CCG9911_Human1.00979346
139TCF4_23295773_ChIP-Seq_U87_Human1.00516646
140ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.00389078
141MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.98706610
142FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.97891690
143E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.96019087
144XRN2_22483619_ChIP-Seq_HELA_Human0.95832741
145GBX2_23144817_ChIP-Seq_PC3_Human0.94901900
146TP63_19390658_ChIP-ChIP_HaCaT_Human0.93896796
147P300_19829295_ChIP-Seq_ESCs_Human0.93487979
148FOXP3_21729870_ChIP-Seq_TREG_Human0.93477072
149IRF8_27001747_Chip-Seq_BMDM_Mouse0.92656622
150TP53_18474530_ChIP-ChIP_U2OS_Human0.91037470
151ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.89395503
152TTF2_22483619_ChIP-Seq_HELA_Human0.89125031
153VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83853977
154OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.82709532
155PADI4_21655091_ChIP-ChIP_MCF-7_Human0.82522458
156POU3F2_20337985_ChIP-ChIP_501MEL_Human0.82199939
157MYCN_18555785_ChIP-Seq_MESCs_Mouse0.81843950
158CMYC_18555785_Chip-Seq_ESCs_Mouse0.81564151
159SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.80136564
160ER_23166858_ChIP-Seq_MCF-7_Human0.79343286

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology5.24820144
2MP0001348_abnormal_lacrimal_gland4.58199634
3MP0001346_abnormal_lacrimal_gland3.72438938
4MP0003195_calcinosis3.69383816
5MP0002102_abnormal_ear_morphology3.36992375
6MP0002837_dystrophic_cardiac_calcinosis3.10811276
7MP0005379_endocrine/exocrine_gland_phen3.00651210
8MP0002138_abnormal_hepatobiliary_system2.92398181
9MP0008057_abnormal_DNA_replication2.63490801
10MP0001835_abnormal_antigen_presentation2.58992322
11MP0000685_abnormal_immune_system2.58801385
12MP0002254_reproductive_system_inflammat2.43860547
13MP0002148_abnormal_hypersensitivity_rea2.32674512
14MP0003786_premature_aging2.32516021
15MP0003941_abnormal_skin_development2.19227407
16MP0006072_abnormal_retinal_apoptosis2.10857605
17MP0005084_abnormal_gallbladder_morpholo2.06983416
18MP0005310_abnormal_salivary_gland2.06903628
19MP0005646_abnormal_pituitary_gland2.06315223
20MP0002277_abnormal_respiratory_mucosa2.00933598
21MP0006054_spinal_hemorrhage1.80155181
22MP0001529_abnormal_vocalization1.73966900
23MP0001984_abnormal_olfaction1.73716617
24MP0010094_abnormal_chromosome_stability1.73589129
25MP0003718_maternal_effect1.72966760
26MP0005551_abnormal_eye_electrophysiolog1.66413782
27MP0008995_early_reproductive_senescence1.66141435
28MP0005253_abnormal_eye_physiology1.66115615
29MP0003787_abnormal_imprinting1.65497572
30MP0009785_altered_susceptibility_to1.57260587
31MP0005075_abnormal_melanosome_morpholog1.56606500
32MP0008007_abnormal_cellular_replicative1.56060185
33MP0005623_abnormal_meninges_morphology1.55765056
34MP0002876_abnormal_thyroid_physiology1.55092684
35MP0003011_delayed_dark_adaptation1.54315600
36MP0005171_absent_coat_pigmentation1.53899539
37MP0002877_abnormal_melanocyte_morpholog1.51926214
38MP0003121_genomic_imprinting1.49042589
39MP0002009_preneoplasia1.48611430
40MP0008058_abnormal_DNA_repair1.47234974
41MP0002234_abnormal_pharynx_morphology1.46946757
42MP0005671_abnormal_response_to1.45271255
43MP0001790_abnormal_immune_system1.43437698
44MP0005387_immune_system_phenotype1.43437698
45MP0005503_abnormal_tendon_morphology1.42596817
46MP0000427_abnormal_hair_cycle1.41728364
47MP0001188_hyperpigmentation1.36898594
48MP0001764_abnormal_homeostasis1.36485804
49MP0004147_increased_porphyrin_level1.35831850
50MP0003136_yellow_coat_color1.33606666
51MP0010307_abnormal_tumor_latency1.31254092
52MP0008789_abnormal_olfactory_epithelium1.29567438
53MP0000631_abnormal_neuroendocrine_gland1.29231880
54MP0005174_abnormal_tail_pigmentation1.26709690
55MP0008932_abnormal_embryonic_tissue1.26611741
56MP0003186_abnormal_redox_activity1.24464881
57MP0008872_abnormal_physiological_respon1.23764699
58MP0010352_gastrointestinal_tract_polyps1.23572172
59MP0006036_abnormal_mitochondrial_physio1.22754966
60MP0003077_abnormal_cell_cycle1.21902374
61MP0006035_abnormal_mitochondrial_morpho1.21179767
62MP0005000_abnormal_immune_tolerance1.18294496
63MP0009046_muscle_twitch1.18087897
64MP0004215_abnormal_myocardial_fiber1.14280656
65MP0003880_abnormal_central_pattern1.12424678
66MP0004957_abnormal_blastocyst_morpholog1.12364644
67MP0005645_abnormal_hypothalamus_physiol1.12148915
68MP0002638_abnormal_pupillary_reflex1.10285285
69MP0004134_abnormal_chest_morphology1.10174528
70MP0003122_maternal_imprinting1.08233704
71MP0000516_abnormal_urinary_system1.07316946
72MP0005367_renal/urinary_system_phenotyp1.07316946
73MP0000569_abnormal_digit_pigmentation1.06174895
74MP0001905_abnormal_dopamine_level1.05675784
75MP0004510_myositis1.04770607
76MP0001986_abnormal_taste_sensitivity0.99675357
77MP0009780_abnormal_chondrocyte_physiolo0.99560713
78MP0002006_tumorigenesis0.99039524
79MP0003448_altered_tumor_morphology0.98285083
80MP0001119_abnormal_female_reproductive0.97903666
81MP0000681_abnormal_thyroid_gland0.96806240
82MP0002452_abnormal_antigen_presenting0.96782410
83MP0005395_other_phenotype0.96462694
84MP0000613_abnormal_salivary_gland0.95482354
85MP0005332_abnormal_amino_acid0.95346810
86MP0010030_abnormal_orbit_morphology0.95006275
87MP0002090_abnormal_vision0.94854101
88MP0002938_white_spotting0.94548255
89MP0003283_abnormal_digestive_organ0.94388850
90MP0004133_heterotaxia0.93509569
91MP0002396_abnormal_hematopoietic_system0.93311836
92MP0000647_abnormal_sebaceous_gland0.92244213
93MP0002693_abnormal_pancreas_physiology0.92052757
94MP0003111_abnormal_nucleus_morphology0.91428839
95MP0002723_abnormal_immune_serum0.91072622
96MP0005408_hypopigmentation0.90565194
97MP0000538_abnormal_urinary_bladder0.90481358
98MP0001800_abnormal_humoral_immune0.90224031
99MP0003567_abnormal_fetal_cardiomyocyte0.88534589
100MP0003123_paternal_imprinting0.87832754
101MP0001819_abnormal_immune_cell0.87242655
102MP0004142_abnormal_muscle_tone0.87052457
103MP0001542_abnormal_bone_strength0.86073233
104MP0000350_abnormal_cell_proliferation0.85319672
105MP0000653_abnormal_sex_gland0.84871930
106MP0001929_abnormal_gametogenesis0.84024536
107MP0002420_abnormal_adaptive_immunity0.83534880
108MP0000383_abnormal_hair_follicle0.83267364
109MP0003091_abnormal_cell_migration0.83139366
110MP0001919_abnormal_reproductive_system0.83060148
111MP0001756_abnormal_urination0.82006143
112MP0000372_irregular_coat_pigmentation0.78811980
113MP0009745_abnormal_behavioral_response0.78333316
114MP0004924_abnormal_behavior0.77626961
115MP0005386_behavior/neurological_phenoty0.77626961
116MP0006276_abnormal_autonomic_nervous0.77358397
117MP0002166_altered_tumor_susceptibility0.76752356
118MP0002272_abnormal_nervous_system0.76164491
119MP0003693_abnormal_embryo_hatching0.75515250
120MP0008438_abnormal_cutaneous_collagen0.75511505
121MP0002210_abnormal_sex_determination0.75463549
122MP0001501_abnormal_sleep_pattern0.75440762
123MP0008775_abnormal_heart_ventricle0.74927768
124MP0001145_abnormal_male_reproductive0.74768054
125MP0009250_abnormal_appendicular_skeleto0.74479997
126MP0005076_abnormal_cell_differentiation0.73896471
127MP0003252_abnormal_bile_duct0.73624466
128MP0010678_abnormal_skin_adnexa0.73480509
129MP0002419_abnormal_innate_immunity0.73461029
130MP0001944_abnormal_pancreas_morphology0.73230647
131MP0001968_abnormal_touch/_nociception0.72902723
132MP0001486_abnormal_startle_reflex0.72828046
133MP0002075_abnormal_coat/hair_pigmentati0.71876507
134MP0000015_abnormal_ear_pigmentation0.71786458
135MP0005508_abnormal_skeleton_morphology0.71739672
136MP0002160_abnormal_reproductive_system0.71734490
137MP0005636_abnormal_mineral_homeostasis0.71295013
138MP0002736_abnormal_nociception_after0.70270745
139MP0000716_abnormal_immune_system0.69613307
140MP0003943_abnormal_hepatobiliary_system0.69464676
141MP0000678_abnormal_parathyroid_gland0.68351521
142MP0001485_abnormal_pinna_reflex0.68152273
143MP0005025_abnormal_response_to0.67853980
144MP0000627_abnormal_mammary_gland0.67280697
145MP0002095_abnormal_skin_pigmentation0.66407170
146MP0001299_abnormal_eye_distance/0.66124548
147MP0002909_abnormal_adrenal_gland0.66019868
148MP0004885_abnormal_endolymph0.65880868
149MP0000049_abnormal_middle_ear0.65783996
150MP0003436_decreased_susceptibility_to0.65609177
151MP0002398_abnormal_bone_marrow0.65206482
152MP0000566_synostosis0.64565568
153MP0000858_altered_metastatic_potential0.64277422
154MP0001186_pigmentation_phenotype0.64071839
155MP0003936_abnormal_reproductive_system0.63650659
156MP0003942_abnormal_urinary_system0.63308443
157MP0001293_anophthalmia0.62902647
158MP0008877_abnormal_DNA_methylation0.62704037
159MP0002282_abnormal_trachea_morphology0.62586540
160MP0009697_abnormal_copulation0.61080304
161MP0002751_abnormal_autonomic_nervous0.57538272
162MP0003385_abnormal_body_wall0.57375738
163MP0010386_abnormal_urinary_bladder0.56483205
164MP0005389_reproductive_system_phenotype0.55560861
165MP0005390_skeleton_phenotype0.55538923
166MP0006292_abnormal_olfactory_placode0.54756427
167MP0005621_abnormal_cell_physiology0.54400651

Predicted human phenotypes

RankGene SetZ-score
1Increased IgM level (HP:0003496)4.69183167
2Pancreatic fibrosis (HP:0100732)3.50112453
3Abnormality of midbrain morphology (HP:0002418)3.46890210
4Molar tooth sign on MRI (HP:0002419)3.46890210
5Thyroiditis (HP:0100646)3.14139038
6Nephronophthisis (HP:0000090)3.13540944
7Intestinal atresia (HP:0011100)3.07270379
8Progressive macrocephaly (HP:0004481)3.06511827
9Acute necrotizing encephalopathy (HP:0006965)2.98426282
10Increased CSF lactate (HP:0002490)2.94144963
11Hypothermia (HP:0002045)2.91927346
12Amaurosis fugax (HP:0100576)2.87683343
13Methylmalonic acidemia (HP:0002912)2.84323281
14Aplasia/Hypoplasia of the uvula (HP:0010293)2.83030487
15Increased hepatocellular lipid droplets (HP:0006565)2.82094458
16Mitochondrial inheritance (HP:0001427)2.81151632
17Abnormality of the labia minora (HP:0012880)2.74364884
18Acute encephalopathy (HP:0006846)2.69893007
19Congenital stationary night blindness (HP:0007642)2.68287198
20Lipid accumulation in hepatocytes (HP:0006561)2.68210279
21Hypoproteinemia (HP:0003075)2.65038351
22Irregular epiphyses (HP:0010582)2.64734895
23Abnormality of the renal medulla (HP:0100957)2.59205411
24Medial flaring of the eyebrow (HP:0010747)2.56192361
25Abnormality of aspartate family amino acid metabolism (HP:0010899)2.51926352
26Chromosomal breakage induced by crosslinking agents (HP:0003221)2.51403155
27Chromsome breakage (HP:0040012)2.45607929
28Methylmalonic aciduria (HP:0012120)2.43770871
29Birth length less than 3rd percentile (HP:0003561)2.43489763
30Abnormal mitochondria in muscle tissue (HP:0008316)2.42524236
31Abnormality of vitamin B metabolism (HP:0004340)2.42091226
323-Methylglutaconic aciduria (HP:0003535)2.39925603
33Meckel diverticulum (HP:0002245)2.38670009
34Hepatocellular necrosis (HP:0001404)2.37687860
35Aplasia/Hypoplasia of the tongue (HP:0010295)2.35803355
36Abnormal delayed hypersensitivity skin test (HP:0002963)2.35681967
37Epiphyseal dysplasia (HP:0002656)2.33571165
38Abolished electroretinogram (ERG) (HP:0000550)2.28903720
39Decreased electroretinogram (ERG) amplitude (HP:0000654)2.28266210
40Colon cancer (HP:0003003)2.28215558
41Abnormality of the ileum (HP:0001549)2.25603428
42Keratoconus (HP:0000563)2.25285993
43Increased corneal curvature (HP:0100692)2.25285993
44Medulloblastoma (HP:0002885)2.24141215
45Abnormal rod and cone electroretinograms (HP:0008323)2.23945940
46Attenuation of retinal blood vessels (HP:0007843)2.23083923
47Abnormal hair whorl (HP:0010721)2.21705816
48Neoplasm of the adrenal cortex (HP:0100641)2.19656743
49Optic neuritis (HP:0100653)2.19532607
50Retrobulbar optic neuritis (HP:0100654)2.19532607
51Severe combined immunodeficiency (HP:0004430)2.19434219
52Hepatic necrosis (HP:0002605)2.19099633
53Increased serum lactate (HP:0002151)2.18787803
54Ependymoma (HP:0002888)2.17684772
55Abnormality of the renal cortex (HP:0011035)2.15635473
56Eosinophilia (HP:0001880)2.15527602
57Volvulus (HP:0002580)2.14727296
58Decreased central vision (HP:0007663)2.13787939
59Hemiparesis (HP:0001269)2.13144680
60Glioma (HP:0009733)2.12626943
61Optic nerve coloboma (HP:0000588)2.12293331
62Vertebral compression fractures (HP:0002953)2.10304275
63Ectopic kidney (HP:0000086)2.08718803
64Abnormal protein glycosylation (HP:0012346)2.07598831
65Abnormal glycosylation (HP:0012345)2.07598831
66Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.07598831
67Abnormal protein N-linked glycosylation (HP:0012347)2.07598831
68Type II lissencephaly (HP:0007260)2.06529530
69Renal Fanconi syndrome (HP:0001994)2.06416022
70Duplicated collecting system (HP:0000081)2.05789948
71Cystic liver disease (HP:0006706)2.03947317
72Furrowed tongue (HP:0000221)2.03842180
73Sclerocornea (HP:0000647)2.03283445
74Heterochromia iridis (HP:0001100)2.02378839
75Long palpebral fissure (HP:0000637)2.01538972
76Abnormality of the pons (HP:0007361)2.00677053
77Absent radius (HP:0003974)2.00283335
78Abnormality of serum amino acid levels (HP:0003112)1.99620551
79Abnormality of the astrocytes (HP:0100707)1.99483925
80Astrocytoma (HP:0009592)1.99483925
81Ketoacidosis (HP:0001993)1.98692340
82Mild short stature (HP:0003502)1.97664154
83Cerebral edema (HP:0002181)1.97154098
84Panhypogammaglobulinemia (HP:0003139)1.96821335
85Abnormal trabecular bone morphology (HP:0100671)1.96553152
86Abnormality of incisor morphology (HP:0011063)1.96449139
87Absent forearm bone (HP:0003953)1.96386652
88Aplasia involving forearm bones (HP:0009822)1.96386652
89Agnosia (HP:0010524)1.95066468
90Abnormality of the renal collecting system (HP:0004742)1.93537679
91Gastrointestinal atresia (HP:0002589)1.92890750
92Renal cortical cysts (HP:0000803)1.92370884
93Tubular atrophy (HP:0000092)1.92354360
94Hyperventilation (HP:0002883)1.91559424
95Postaxial foot polydactyly (HP:0001830)1.91141147
96Hypoplasia of the pons (HP:0012110)1.89955473
97True hermaphroditism (HP:0010459)1.89558705
98Disproportionate short-trunk short stature (HP:0003521)1.89113029
99Stenosis of the external auditory canal (HP:0000402)1.89007379
100Abnormality of the vitamin B12 metabolism (HP:0004341)1.88768884
101Optic disc pallor (HP:0000543)1.88572204
102Duodenal stenosis (HP:0100867)1.88165714
103Small intestinal stenosis (HP:0012848)1.88165714
104Male pseudohermaphroditism (HP:0000037)1.87865976
105Metaphyseal dysplasia (HP:0100255)1.87449508
106Adactyly (HP:0009776)1.87059466
107Neoplasm of the adrenal gland (HP:0100631)1.85271035
108Congenital, generalized hypertrichosis (HP:0004540)1.85057060
109Sloping forehead (HP:0000340)1.85038562
110Albinism (HP:0001022)1.85025212
111Preaxial hand polydactyly (HP:0001177)1.84244572
112Bile duct proliferation (HP:0001408)1.84019677
113Abnormal biliary tract physiology (HP:0012439)1.84019677
114Abnormality of chromosome stability (HP:0003220)1.83496770
115Absent frontal sinuses (HP:0002688)1.83464677
116Dandy-Walker malformation (HP:0001305)1.82844875
117Lactic acidosis (HP:0003128)1.82814867
118Pancreatic islet-cell hyperplasia (HP:0004510)1.82729296
119Rhabdomyosarcoma (HP:0002859)1.82690094
120Abnormality of the incisor (HP:0000676)1.82476285
121Patellar aplasia (HP:0006443)1.82272588
122Congenital hepatic fibrosis (HP:0002612)1.81919250
123Abnormality of B cell number (HP:0010975)1.80809058
124Abnormality of the preputium (HP:0100587)1.80483683
12511 pairs of ribs (HP:0000878)1.80271339
126Anencephaly (HP:0002323)1.80217275
127Hyperglycinuria (HP:0003108)1.79958038
128Prolonged neonatal jaundice (HP:0006579)1.79715717
129Porencephaly (HP:0002132)1.78697672
130Postaxial hand polydactyly (HP:0001162)1.78212822
131Hypergammaglobulinemia (HP:0010702)1.76158554
132Bifid tongue (HP:0010297)1.76086439
133Pendular nystagmus (HP:0012043)1.76069711
134Short middle phalanx of the 5th finger (HP:0004220)1.75766998
135Lethargy (HP:0001254)1.75719458
136Neonatal short-limb short stature (HP:0008921)1.75288451
137Chronic hepatic failure (HP:0100626)1.74827333
138Synostosis of carpal bones (HP:0005048)1.74301070
139Abnormal albumin level (HP:0012116)1.74148910
140Hypoalbuminemia (HP:0003073)1.74148910
141Narrow forehead (HP:0000341)1.74089431
142Hyperglycinemia (HP:0002154)1.73985994
143Hypoglycemic seizures (HP:0002173)1.73873973
144Conical tooth (HP:0000698)1.73602983
145Granulocytopenia (HP:0001913)1.69915116
146Pancreatic cysts (HP:0001737)1.69324250
147Thrombocytosis (HP:0001894)1.69108091
148Cleft eyelid (HP:0000625)1.68964772
149Supernumerary spleens (HP:0009799)1.68764807
150Missing ribs (HP:0000921)1.68711522
151Adrenal hypoplasia (HP:0000835)1.67599529
152Myelomeningocele (HP:0002475)1.67021272
153Abnormality of the nasal septum (HP:0000419)1.66907052
154Sex reversal (HP:0012245)1.66716516
155Abnormal sex determination (HP:0012244)1.66716516
156Small epiphyses (HP:0010585)1.66577753
157White forelock (HP:0002211)1.65604251
158Autoamputation (HP:0001218)1.63932083
159Mediastinal lymphadenopathy (HP:0100721)1.62971164
160Flat capital femoral epiphysis (HP:0003370)1.62551491
161Aplasia/Hypoplasia of the patella (HP:0006498)1.60206569
162Premature loss of primary teeth (HP:0006323)1.59509695
163Neoplasm of the oral cavity (HP:0100649)1.59104164
164Septo-optic dysplasia (HP:0100842)1.58901817
165Abnormality of eosinophils (HP:0001879)1.57818346
166Supernumerary bones of the axial skeleton (HP:0009144)1.56589260
167Recurrent pneumonia (HP:0006532)1.55389905
168Carpal synostosis (HP:0009702)1.55170687
169Aplasia cutis congenita (HP:0001057)1.55042824
170Hyperphosphatemia (HP:0002905)1.54185439
171Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.53644474
172Myelodysplasia (HP:0002863)1.53090140
173Cervical subluxation (HP:0003308)1.52971494
174Abnormality of the phalanges of the 5th finger (HP:0004213)1.51185015
175Abnormal number of incisors (HP:0011064)1.51175576
176Rough bone trabeculation (HP:0100670)1.49956404
177Cerebral hypomyelination (HP:0006808)1.49745083
178Type I transferrin isoform profile (HP:0003642)1.48084085
179Absent hand (HP:0004050)1.47372924
180Absent epiphyses (HP:0010577)1.47128428
181Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.47128428
182Abnormality of the duodenum (HP:0002246)1.46774736
183Clubbing of toes (HP:0100760)1.46366143
184Gastrointestinal infarctions (HP:0005244)1.45613785
185Absent thumb (HP:0009777)1.45358071
186Supernumerary ribs (HP:0005815)1.45101541
187Tracheoesophageal fistula (HP:0002575)1.45019604
188Anhidrosis (HP:0000970)1.44734061
189Occipital encephalocele (HP:0002085)1.42790605
190Orchitis (HP:0100796)1.42444795
191Triphalangeal thumb (HP:0001199)1.41589017
192Cortical dysplasia (HP:0002539)1.41529771
193Aplasia/Hypoplasia of the sacrum (HP:0008517)1.41039484
194Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.41035545

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.15040071
2MAP3K144.34801143
3BCR3.72055587
4NUAK13.32874828
5MAP3K133.04400597
6TNIK2.56428167
7WNK32.52476791
8MAP4K22.47187890
9IKBKB2.43461187
10TSSK62.41539020
11JAK32.37836837
12CASK2.21814949
13MAP3K122.15222905
14TRIM282.14825377
15ERBB31.99017234
16ARAF1.94989178
17VRK21.92984625
18CHUK1.89098135
19ZAK1.85152880
20BMPR21.82959088
21AKT31.81444441
22PIM21.79617916
23NEK61.78970195
24EPHA21.74956506
25IRAK41.70238248
26BUB11.70174496
27SIK31.69436276
28LIMK11.63988470
29ADRBK21.58538534
30EIF2AK11.56806827
31GRK11.56718578
32SRPK11.55742177
33YES11.54955892
34PLK21.54769305
35CDK191.53089136
36TYK21.53085329
37VRK11.50156956
38TESK11.49051349
39PLK31.45720569
40FGFR21.43515018
41BMPR1B1.30562190
42INSRR1.29847910
43PASK1.29640697
44PBK1.29054137
45BRSK21.27847965
46FLT31.22613812
47MAP3K41.19135765
48MKNK11.19077755
49MAPK131.16059874
50ATR1.15895171
51EIF2AK31.14546384
52BRAF1.13086360
53STK38L1.12998739
54NLK1.09415651
55OXSR11.08199267
56CSNK1G11.07105591
57TIE11.06981736
58EIF2AK21.06539782
59MST41.04808790
60CSNK1G31.03555422
61STK391.02846760
62STK161.02728295
63TBK11.00172987
64ACVR1B0.97186288
65NEK90.95760297
66WEE10.92814786
67CSNK1A1L0.89831259
68CSNK1G20.88797047
69EPHA30.87357103
70KIT0.86355376
71STK240.85153766
72NEK10.84927976
73CCNB10.83456334
74PKN10.82258767
75IKBKE0.81477226
76EPHA40.81218251
77BCKDK0.80688212
78CDC70.80112305
79NME10.79569875
80PLK40.77860200
81TGFBR10.77194184
82PHKG10.76473417
83PHKG20.76473417
84TLK10.76455612
85CHEK20.73037744
86JAK10.72345693
87CDK70.71597420
88DDR20.69263313
89PAK40.68419726
90CLK10.67982985
91TESK20.67437289
92MAPKAPK30.67037291
93NTRK30.66735476
94STK40.64166430
95MKNK20.63257366
96PINK10.62886334
97MAPKAPK50.62563381
98CDK80.60017094
99TAF10.59838039
100IRAK10.59601558
101PAK30.59531631
102PIM10.58604573
103TEC0.55770043
104PLK10.53813845
105TXK0.53477405
106MOS0.53024729
107BRD40.52648751
108PAK10.52491228
109WNK40.51666687
110IRAK30.51227839
111CHEK10.51125996
112KSR10.50772311
113ADRBK10.46225989
114PNCK0.46191865
115PRKCD0.46074429
116ATM0.45209310
117DYRK20.43925531
118MINK10.42955718
119PRKCE0.41910884
120PRKCG0.41710407
121MAPKAPK20.41198976
122TGFBR20.40042237
123TAOK30.39488552
124TTK0.39244220
125GRK70.39007020
126RPS6KA50.37515174
127IRAK20.36446563
128MAP2K70.36391043
129PRKCQ0.36189669
130PRKCI0.34927349
131MAP2K60.34890264
132AKT10.34201172
133RPS6KA40.34061533
134PIK3CG0.32470842
135TRPM70.32391983
136DAPK10.32287306
137TNK20.31848866
138STK30.31157621
139CAMK2A0.30477268
140DAPK20.29655557
141CSNK1A10.29078687
142PRPF4B0.28262661
143AURKA0.27539519
144FER0.27014652
145RPS6KB10.25852182
146CAMKK20.25551513
147ABL10.25501507
148DYRK30.25348030
149WNK10.25304989
150MAP3K90.25282493
151FGFR10.24961566
152CSNK2A10.23642100

Predicted pathways (KEGG)

RankGene SetZ-score
1Allograft rejection_Homo sapiens_hsa053303.66024300
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.97920012
3Graft-versus-host disease_Homo sapiens_hsa053322.44106069
4Propanoate metabolism_Homo sapiens_hsa006402.42563064
5Type I diabetes mellitus_Homo sapiens_hsa049402.37652046
6Proteasome_Homo sapiens_hsa030502.35124260
7Autoimmune thyroid disease_Homo sapiens_hsa053202.34145037
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.32449851
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.26084278
10Oxidative phosphorylation_Homo sapiens_hsa001902.20398628
11Phototransduction_Homo sapiens_hsa047442.20186945
12Vitamin B6 metabolism_Homo sapiens_hsa007502.17742385
13Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.11103992
14Butanoate metabolism_Homo sapiens_hsa006502.06199023
15Mismatch repair_Homo sapiens_hsa034302.05555934
16DNA replication_Homo sapiens_hsa030302.03554857
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.86130570
18Homologous recombination_Homo sapiens_hsa034401.84094099
19Intestinal immune network for IgA production_Homo sapiens_hsa046721.78999813
20RNA polymerase_Homo sapiens_hsa030201.73009215
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.71172586
22NF-kappa B signaling pathway_Homo sapiens_hsa040641.69953010
23Fatty acid elongation_Homo sapiens_hsa000621.69048789
24Parkinsons disease_Homo sapiens_hsa050121.68387924
25NOD-like receptor signaling pathway_Homo sapiens_hsa046211.59805845
26Rheumatoid arthritis_Homo sapiens_hsa053231.50679854
27Steroid biosynthesis_Homo sapiens_hsa001001.44474537
28Measles_Homo sapiens_hsa051621.43508233
29Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.40722122
30p53 signaling pathway_Homo sapiens_hsa041151.37158336
31Cell cycle_Homo sapiens_hsa041101.36104729
32Fanconi anemia pathway_Homo sapiens_hsa034601.35135677
33Epstein-Barr virus infection_Homo sapiens_hsa051691.31619628
34TNF signaling pathway_Homo sapiens_hsa046681.29606675
35Non-homologous end-joining_Homo sapiens_hsa034501.28784051
36Tryptophan metabolism_Homo sapiens_hsa003801.27948586
37Toll-like receptor signaling pathway_Homo sapiens_hsa046201.27067283
38Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.26147526
39RNA transport_Homo sapiens_hsa030131.24561366
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.22512578
41Leishmaniasis_Homo sapiens_hsa051401.22462405
42Selenocompound metabolism_Homo sapiens_hsa004501.21649696
43Nucleotide excision repair_Homo sapiens_hsa034201.20853452
44RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.20693360
45One carbon pool by folate_Homo sapiens_hsa006701.20485058
46Herpes simplex infection_Homo sapiens_hsa051681.18561047
47African trypanosomiasis_Homo sapiens_hsa051431.18291158
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.16331202
49Linoleic acid metabolism_Homo sapiens_hsa005911.15399353
50Peroxisome_Homo sapiens_hsa041461.13843740
51Ether lipid metabolism_Homo sapiens_hsa005651.13270351
52Antigen processing and presentation_Homo sapiens_hsa046121.12544438
53Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.11483093
54Sulfur metabolism_Homo sapiens_hsa009201.11058157
55Spliceosome_Homo sapiens_hsa030401.10191632
56Base excision repair_Homo sapiens_hsa034101.08293971
57Apoptosis_Homo sapiens_hsa042101.07841030
58Basal transcription factors_Homo sapiens_hsa030221.07812758
59Nitrogen metabolism_Homo sapiens_hsa009101.07378532
60Legionellosis_Homo sapiens_hsa051341.06961993
61Influenza A_Homo sapiens_hsa051641.05654929
62alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.04735957
63Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.04499701
64Huntingtons disease_Homo sapiens_hsa050161.00968382
65SNARE interactions in vesicular transport_Homo sapiens_hsa041301.00037292
66Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.98986468
67Toxoplasmosis_Homo sapiens_hsa051450.96227596
68Cysteine and methionine metabolism_Homo sapiens_hsa002700.93430247
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.92888361
70Chemokine signaling pathway_Homo sapiens_hsa040620.90659686
71Alzheimers disease_Homo sapiens_hsa050100.90024381
72Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.88908805
73Caffeine metabolism_Homo sapiens_hsa002320.88842128
74Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.87090303
75Shigellosis_Homo sapiens_hsa051310.86746432
76Glutathione metabolism_Homo sapiens_hsa004800.86703240
77Asthma_Homo sapiens_hsa053100.85182893
78Viral myocarditis_Homo sapiens_hsa054160.84642909
79Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.84271203
80Viral carcinogenesis_Homo sapiens_hsa052030.83798832
81Folate biosynthesis_Homo sapiens_hsa007900.82809060
82Fatty acid metabolism_Homo sapiens_hsa012120.80789603
83Jak-STAT signaling pathway_Homo sapiens_hsa046300.80473506
84Regulation of autophagy_Homo sapiens_hsa041400.80031304
85Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.78838295
86Transcriptional misregulation in cancer_Homo sapiens_hsa052020.76487010
87Vibrio cholerae infection_Homo sapiens_hsa051100.76455135
88HTLV-I infection_Homo sapiens_hsa051660.76041785
89Primary bile acid biosynthesis_Homo sapiens_hsa001200.75832396
90Small cell lung cancer_Homo sapiens_hsa052220.74890615
91Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.74522822
92Metabolic pathways_Homo sapiens_hsa011000.74329685
93RNA degradation_Homo sapiens_hsa030180.74149916
94N-Glycan biosynthesis_Homo sapiens_hsa005100.72368627
95Pyrimidine metabolism_Homo sapiens_hsa002400.70584742
96Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.70273770
97Protein export_Homo sapiens_hsa030600.70154514
98Primary immunodeficiency_Homo sapiens_hsa053400.69923141
99Phagosome_Homo sapiens_hsa041450.69432098
100Hepatitis B_Homo sapiens_hsa051610.67685851
101Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.67664373
102Melanoma_Homo sapiens_hsa052180.67112493
103Collecting duct acid secretion_Homo sapiens_hsa049660.65343947
104Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65014717
105Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.64862521
106Fatty acid degradation_Homo sapiens_hsa000710.63640379
107Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.62994162
108Malaria_Homo sapiens_hsa051440.62977199
109Tuberculosis_Homo sapiens_hsa051520.62725018
110Synaptic vesicle cycle_Homo sapiens_hsa047210.62108764
111Ribosome_Homo sapiens_hsa030100.61628609
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.61554904
113Retinol metabolism_Homo sapiens_hsa008300.61100455
114Chemical carcinogenesis_Homo sapiens_hsa052040.60781401
115Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.59200994
116Osteoclast differentiation_Homo sapiens_hsa043800.59122260
117Hedgehog signaling pathway_Homo sapiens_hsa043400.58817127
118MicroRNAs in cancer_Homo sapiens_hsa052060.58689799
119Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.58329999
120Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57967928
121beta-Alanine metabolism_Homo sapiens_hsa004100.55385855
122Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.55294306
123Hippo signaling pathway_Homo sapiens_hsa043900.54640523
124TGF-beta signaling pathway_Homo sapiens_hsa043500.54509009
125Pentose and glucuronate interconversions_Homo sapiens_hsa000400.53339461
126mRNA surveillance pathway_Homo sapiens_hsa030150.53094121
127Pathways in cancer_Homo sapiens_hsa052000.52821138
128Nicotine addiction_Homo sapiens_hsa050330.52628690
129Pertussis_Homo sapiens_hsa051330.52010344
130Systemic lupus erythematosus_Homo sapiens_hsa053220.51360867
131Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.50020699
132Arachidonic acid metabolism_Homo sapiens_hsa005900.49900741
133Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.48786752
134Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.47891981
135Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.46904843
136MAPK signaling pathway_Homo sapiens_hsa040100.46394997
137Serotonergic synapse_Homo sapiens_hsa047260.45400185
138Circadian rhythm_Homo sapiens_hsa047100.43623346
139T cell receptor signaling pathway_Homo sapiens_hsa046600.42963822
140Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42929452
141Basal cell carcinoma_Homo sapiens_hsa052170.42651457
142Alcoholism_Homo sapiens_hsa050340.42259337
143Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41210553
144ErbB signaling pathway_Homo sapiens_hsa040120.40820423
145Oocyte meiosis_Homo sapiens_hsa041140.40644753
146Purine metabolism_Homo sapiens_hsa002300.40548333
147Prolactin signaling pathway_Homo sapiens_hsa049170.40494849
148Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.40462427
149Prostate cancer_Homo sapiens_hsa052150.40017274
150PI3K-Akt signaling pathway_Homo sapiens_hsa041510.39758307
151Steroid hormone biosynthesis_Homo sapiens_hsa001400.39617561
152Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.39565670
153Axon guidance_Homo sapiens_hsa043600.39181529
154Hepatitis C_Homo sapiens_hsa051600.38622833
155Pyruvate metabolism_Homo sapiens_hsa006200.38549203
156Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35794776
157Olfactory transduction_Homo sapiens_hsa047400.35136916
158Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.28054170
159Mineral absorption_Homo sapiens_hsa049780.27176392
160Insulin secretion_Homo sapiens_hsa049110.26750469
161Fat digestion and absorption_Homo sapiens_hsa049750.26030619

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