WDR45

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 WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1purine nucleobase biosynthetic process (GO:0009113)6.32604722
2nucleobase biosynthetic process (GO:0046112)5.33325099
3folic acid metabolic process (GO:0046655)5.17652035
4folic acid transport (GO:0015884)5.13888523
5pantothenate metabolic process (GO:0015939)5.04066914
6glycine metabolic process (GO:0006544)5.01325725
7negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.99687557
8negative regulation of cell killing (GO:0031342)4.99687557
9serine family amino acid catabolic process (GO:0009071)4.90696313
10ribosome assembly (GO:0042255)4.75895970
11amino acid salvage (GO:0043102)4.69908549
12L-methionine salvage (GO:0071267)4.69908549
13L-methionine biosynthetic process (GO:0071265)4.69908549
14NADH metabolic process (GO:0006734)4.68706264
15vitamin transmembrane transport (GO:0035461)4.65791188
16antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.44906907
17antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.41941689
18cytidine deamination (GO:0009972)4.37865377
19cytidine metabolic process (GO:0046087)4.37865377
20cytidine catabolic process (GO:0006216)4.37865377
21serine family amino acid metabolic process (GO:0009069)4.27355337
22serine family amino acid biosynthetic process (GO:0009070)4.23123347
23antigen processing and presentation of endogenous antigen (GO:0019883)4.20825080
24formation of translation preinitiation complex (GO:0001731)4.03229103
25antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.02476981
26sulfur amino acid biosynthetic process (GO:0000097)4.01036056
27ribosome biogenesis (GO:0042254)3.98689840
28L-serine metabolic process (GO:0006563)3.96052636
29methionine metabolic process (GO:0006555)3.94706362
30DNA deamination (GO:0045006)3.93924709
31proteasome assembly (GO:0043248)3.87643741
32pyrimidine ribonucleoside catabolic process (GO:0046133)3.86380111
33rRNA modification (GO:0000154)3.80732922
34methionine biosynthetic process (GO:0009086)3.79471494
35cysteine metabolic process (GO:0006534)3.78688506
36sulfur amino acid catabolic process (GO:0000098)3.78470212
37erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.73056187
38L-phenylalanine metabolic process (GO:0006558)3.73056187
39biotin metabolic process (GO:0006768)3.71754054
40termination of RNA polymerase III transcription (GO:0006386)3.70334774
41transcription elongation from RNA polymerase III promoter (GO:0006385)3.70334774
42L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.67066508
43cofactor transport (GO:0051181)3.66135531
44positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.66076725
45erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.58495465
46L-phenylalanine catabolic process (GO:0006559)3.58495465
47neutrophil activation involved in immune response (GO:0002283)3.57738767
48S-adenosylmethionine metabolic process (GO:0046500)3.57341752
49positive regulation of defense response to virus by host (GO:0002230)3.53052651
50heme transport (GO:0015886)3.52442544
51modified amino acid transport (GO:0072337)3.52134902
52positive regulation of gamma-delta T cell activation (GO:0046645)3.52073866
53maturation of SSU-rRNA (GO:0030490)3.44590333
54cellular response to interleukin-15 (GO:0071350)3.42846625
55response to xenobiotic stimulus (GO:0009410)3.40239301
567-methylguanosine mRNA capping (GO:0006370)3.38887694
57transcription from mitochondrial promoter (GO:0006390)3.36287413
58sulfur amino acid metabolic process (GO:0000096)3.35986014
59transcription from RNA polymerase I promoter (GO:0006360)3.35093250
60positive regulation of T cell mediated cytotoxicity (GO:0001916)3.34895327
61autophagic vacuole assembly (GO:0000045)3.34874706
62termination of RNA polymerase I transcription (GO:0006363)3.33886876
63regulation of B cell receptor signaling pathway (GO:0050855)3.32569720
64positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.30073726
65amino-acid betaine metabolic process (GO:0006577)3.29941112
66regulation of T cell mediated cytotoxicity (GO:0001914)3.28783083
67regulation of translation in response to stress (GO:0043555)3.27678274
68granulocyte activation (GO:0036230)3.27060768
69response to interferon-beta (GO:0035456)3.26696606
70mitotic metaphase plate congression (GO:0007080)3.25748252
71regulation of regulatory T cell differentiation (GO:0045589)3.24186719
72anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.23414047
73aromatic amino acid family catabolic process (GO:0009074)3.22844774
74transcription elongation from RNA polymerase I promoter (GO:0006362)3.22677828
75aspartate family amino acid biosynthetic process (GO:0009067)3.22497998
76neutrophil activation (GO:0042119)3.22425989
77response to interleukin-15 (GO:0070672)3.22171098
78regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.21917970
79RNA capping (GO:0036260)3.21301017
807-methylguanosine RNA capping (GO:0009452)3.21301017
81negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.18894140
82establishment of protein localization to mitochondrial membrane (GO:0090151)3.18846291
83intestinal epithelial cell development (GO:0060576)3.16575117
84regulation of spindle organization (GO:0090224)3.15993386
85regulation of G0 to G1 transition (GO:0070316)3.14495398
86cellular metabolic compound salvage (GO:0043094)3.14150104
87antigen processing and presentation via MHC class Ib (GO:0002475)3.13780560
88negative regulation of innate immune response (GO:0045824)3.13763532
89vitamin transport (GO:0051180)3.11633734
90GMP metabolic process (GO:0046037)3.10140088
91ribonucleoprotein complex biogenesis (GO:0022613)3.07032386
92lung-associated mesenchyme development (GO:0060484)3.06390285
93aromatic amino acid family metabolic process (GO:0009072)3.04955408
94regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.03606847
95pyrimidine-containing compound transmembrane transport (GO:0072531)3.02960933
96urate metabolic process (GO:0046415)3.02744197
97negative regulation of interleukin-12 production (GO:0032695)3.02510168
98positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.01991599
99branched-chain amino acid catabolic process (GO:0009083)3.00528274
100CDP-diacylglycerol metabolic process (GO:0046341)3.00256982
101regulation of cellular amino acid metabolic process (GO:0006521)2.98072653
102transcription initiation from RNA polymerase I promoter (GO:0006361)2.97606475
103fructose metabolic process (GO:0006000)2.97485184
104negative regulation of interleukin-1 production (GO:0032692)2.94438398
105tryptophan catabolic process (GO:0006569)2.93807718
106indole-containing compound catabolic process (GO:0042436)2.93807718
107indolalkylamine catabolic process (GO:0046218)2.93807718
108aspartate family amino acid metabolic process (GO:0009066)2.93437508
109negative regulation of interleukin-6 production (GO:0032715)2.93008619
110autophagic vacuole fusion (GO:0000046)2.92963320
111regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.91870996
112interferon-gamma secretion (GO:0072643)2.90413224
113positive thymic T cell selection (GO:0045059)2.89727667
114Arp2/3 complex-mediated actin nucleation (GO:0034314)2.89078414
115tolerance induction (GO:0002507)2.88053235
116negative regulation of lymphocyte mediated immunity (GO:0002707)2.88002514
117GDP-mannose metabolic process (GO:0019673)2.87747588
118positive regulation of ligase activity (GO:0051351)2.86823057
119positive regulation of natural killer cell differentiation (GO:0032825)2.86306091
120regulation of leukocyte mediated cytotoxicity (GO:0001910)2.86189701
121kynurenine metabolic process (GO:0070189)2.85463694
122production of molecular mediator involved in inflammatory response (GO:0002532)2.85406235
123DNA replication checkpoint (GO:0000076)2.84834497
124rRNA methylation (GO:0031167)2.84524897
125negative regulation of ligase activity (GO:0051352)2.84064962
126negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.84064962
127rRNA processing (GO:0006364)2.83694566
128negative regulation of leukocyte mediated immunity (GO:0002704)2.79800652
129alpha-amino acid catabolic process (GO:1901606)2.79687879
130positive regulation of protein homooligomerization (GO:0032464)2.78792213
131cellular amino acid catabolic process (GO:0009063)2.78721975
132pyrimidine nucleoside catabolic process (GO:0046135)2.78358182
133labyrinthine layer development (GO:0060711)2.78322895
134regulation of defense response to virus by host (GO:0050691)2.78318336
135cellular response to interferon-beta (GO:0035458)2.77356330
136regulation of natural killer cell mediated immunity (GO:0002715)2.76818275
137regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.76818275
138modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.76355988
139modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.76355988
140positive regulation by organism of defense response of other organism involved in symbiotic interact2.76355988
141modulation by symbiont of host immune response (GO:0052553)2.76355988
142positive regulation by symbiont of host defense response (GO:0052509)2.76355988
143modulation by symbiont of host defense response (GO:0052031)2.76355988
144regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.75966407
145pyridine-containing compound biosynthetic process (GO:0072525)2.75548473
146leukocyte degranulation (GO:0043299)2.74616271
147homocysteine metabolic process (GO:0050667)2.74177649
148positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.72930485
149bile acid biosynthetic process (GO:0006699)2.72528889
150immunoglobulin mediated immune response (GO:0016064)2.72255399
151response to type I interferon (GO:0034340)2.71324794
152rRNA metabolic process (GO:0016072)2.71236509
153type I interferon signaling pathway (GO:0060337)2.70977220
154cellular response to type I interferon (GO:0071357)2.70977220
155folic acid-containing compound metabolic process (GO:0006760)2.70003048
156regulation of mitochondrial translation (GO:0070129)2.69834253
157tryptophan metabolic process (GO:0006568)2.69754997
158nucleotide-sugar biosynthetic process (GO:0009226)2.67300341
159response to peptidoglycan (GO:0032494)2.66873940
160leukocyte aggregation (GO:0070486)2.63366588
161regulation of interferon-beta biosynthetic process (GO:0045357)2.63015541
162regulation of T cell tolerance induction (GO:0002664)2.61807100
163negative regulation of interleukin-1 beta production (GO:0032691)2.61257533
164detection of bacterium (GO:0016045)2.59998191
165regulation of gamma-delta T cell activation (GO:0046643)2.59149092
166regulation of cell killing (GO:0031341)2.58593790
167regulation of interleukin-6 biosynthetic process (GO:0045408)2.58392671
168positive regulation of interleukin-8 secretion (GO:2000484)2.58369543
169regulation of antigen processing and presentation (GO:0002577)2.56916263
170positive regulation of antigen processing and presentation (GO:0002579)2.55789665
171detection of other organism (GO:0098543)2.53297672
172regulation of interleukin-8 secretion (GO:2000482)2.48994050
173organelle membrane fusion (GO:0090174)2.47061469
174cellular response to exogenous dsRNA (GO:0071360)2.46165145
175myeloid cell activation involved in immune response (GO:0002275)2.45464174
176negative regulation of tumor necrosis factor production (GO:0032720)2.45408284
177regulation of interleukin-12 biosynthetic process (GO:0045075)2.45352268
178actin nucleation (GO:0045010)2.45111541
179positive regulation of cell killing (GO:0031343)2.43837312
180negative regulation of T cell apoptotic process (GO:0070233)2.43523334
181defense response to protozoan (GO:0042832)2.43164940
182lymphocyte chemotaxis (GO:0048247)2.42708262
183positive regulation of interleukin-1 beta secretion (GO:0050718)2.42317727
184iron-sulfur cluster assembly (GO:0016226)2.41322149
185metallo-sulfur cluster assembly (GO:0031163)2.41322149
186negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.38486531
187negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)2.38148645
188regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.37849810
189negative regulation of viral genome replication (GO:0045071)2.37722722
190regulation of gamma-delta T cell differentiation (GO:0045586)2.37096115
191positive regulation of interleukin-1 secretion (GO:0050716)2.36954438
192negative regulation of T cell mediated immunity (GO:0002710)2.36637057
193cellular extravasation (GO:0045123)2.35242642
194regulation of T cell apoptotic process (GO:0070232)2.33726413
195positive regulation of T cell apoptotic process (GO:0070234)2.33305954
196dendritic cell migration (GO:0036336)2.33263499
197positive regulation of calcium-mediated signaling (GO:0050850)2.32006161

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.46444376
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.31610698
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.56561944
4BP1_19119308_ChIP-ChIP_Hs578T_Human3.52250864
5* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.45642348
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.33263192
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.27463666
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.21024863
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.20552526
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.15369550
11GABP_17652178_ChIP-ChIP_JURKAT_Human2.97275647
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.89393271
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.79940526
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.70044679
15PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.67326419
16STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.64622976
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.61468175
18RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.59128410
19MYC_19079543_ChIP-ChIP_MESCs_Mouse2.55797007
20RXR_22158963_ChIP-Seq_LIVER_Mouse2.54498152
21CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.46299287
22IRF8_21731497_ChIP-ChIP_J774_Mouse2.43141094
23E2F7_22180533_ChIP-Seq_HELA_Human2.42411184
24PPARA_22158963_ChIP-Seq_LIVER_Mouse2.39683946
25LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.28245802
26MYC_19030024_ChIP-ChIP_MESCs_Mouse2.24016963
27MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.22349968
28POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.17456871
29BCL6_27268052_Chip-Seq_Bcells_Human2.13933415
30MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.03550964
31NANOG_18555785_ChIP-Seq_MESCs_Mouse2.03144252
32VDR_23849224_ChIP-Seq_CD4+_Human1.98750209
33* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.98505090
34CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.95257888
35ZNF263_19887448_ChIP-Seq_K562_Human1.94033288
36STAT4_19710469_ChIP-ChIP_TH1__Mouse1.92229271
37E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.90459159
38SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.88386060
39XRN2_22483619_ChIP-Seq_HELA_Human1.85973456
40* GABP_19822575_ChIP-Seq_HepG2_Human1.84998673
41* IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.84974238
42LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.84145629
43GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.83941010
44VDR_21846776_ChIP-Seq_THP-1_Human1.83451776
45POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.82605575
46BCOR_27268052_Chip-Seq_Bcells_Human1.81687751
47RUNX_20019798_ChIP-Seq_JUKART_Human1.79219692
48YY1_21170310_ChIP-Seq_MESCs_Mouse1.79120345
49EGR1_23403033_ChIP-Seq_LIVER_Mouse1.78827255
50ELF1_20517297_ChIP-Seq_JURKAT_Human1.77959473
51DCP1A_22483619_ChIP-Seq_HELA_Human1.77829540
52MAF_26560356_Chip-Seq_TH1_Human1.74962538
53HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.74569623
54CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.72449741
55NELFA_20434984_ChIP-Seq_ESCs_Mouse1.72099409
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.71847161
57NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.70988373
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.70603861
59UTX_26944678_Chip-Seq_JUKART_Human1.68557000
60STAT3_1855785_ChIP-Seq_MESCs_Mouse1.68035128
61P68_20966046_ChIP-Seq_HELA_Human1.67523845
62PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.65486187
63NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.65359115
64SRF_21415370_ChIP-Seq_HL-1_Mouse1.65115996
65CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.63952264
66MAF_26560356_Chip-Seq_TH2_Human1.63831088
67RUNX1_22412390_ChIP-Seq_EML_Mouse1.62911468
68FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.60625781
69AR_21909140_ChIP-Seq_LNCAP_Human1.60092084
70SPI1_23547873_ChIP-Seq_NB4_Human1.59428878
71THAP11_20581084_ChIP-Seq_MESCs_Mouse1.57812242
72RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.56796528
73HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.55992579
74YY1_22570637_ChIP-Seq_MALME-3M_Human1.55787127
75FOXP3_21729870_ChIP-Seq_TREG_Human1.55510308
76EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.55190721
77LXR_22292898_ChIP-Seq_THP-1_Human1.54645354
78SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.53057607
79LXR_22158963_ChIP-Seq_LIVER_Mouse1.52987067
80MYB_26560356_Chip-Seq_TH2_Human1.52820348
81VDR_24763502_ChIP-Seq_THP-1_Human1.51375717
82THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.51227528
83ELK3_25401928_ChIP-Seq_HUVEC_Human1.50976737
84E2F1_20622854_ChIP-Seq_HELA_Human1.46866239
85SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.46370587
86IRF8_27001747_Chip-Seq_BMDM_Mouse1.46141912
87SPI1_23127762_ChIP-Seq_K562_Human1.45696384
88SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.44888730
89FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.43366226
90MYCN_18555785_ChIP-Seq_MESCs_Mouse1.42389085
91NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.41506972
92CTCF_20526341_ChIP-Seq_ESCs_Human1.40025312
93TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.39102174
94SCL_19346495_ChIP-Seq_HPC-7_Human1.37439953
95KLF4_18555785_ChIP-Seq_MESCs_Mouse1.36877561
96P300_27268052_Chip-Seq_Bcells_Human1.36631271
97CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36304485
98KDM5A_27292631_Chip-Seq_BREAST_Human1.35627309
99KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.35603829
100MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.35321000
101SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.35009533
102BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.34273628
103NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.32905337
104GATA1_19941826_ChIP-Seq_K562_Human1.32144158
105PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31375123
106SA1_27219007_Chip-Seq_Bcells_Human1.31174114
107PHF8_20622854_ChIP-Seq_HELA_Human1.30426991
108RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.29782233
109CTCF_27219007_Chip-Seq_ERYTHROID_Human1.28956722
110PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28882892
111SA1_27219007_Chip-Seq_ERYTHROID_Human1.28294887
112CTCF_26484167_Chip-Seq_Bcells_Mouse1.28201804
113CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.27070578
114* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26571670
115GATA3_26560356_Chip-Seq_TH2_Human1.26101634
116GATA1_19941827_ChIP-Seq_MEL_Mouse1.25922371
117PU.1_20513432_ChIP-Seq_Bcells_Mouse1.25582037
118CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.25124986
119NOTCH1_21737748_ChIP-Seq_TLL_Human1.23676626
120ELK1_22589737_ChIP-Seq_MCF10A_Human1.23549744
121NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.23267194
122SOX2_18692474_ChIP-Seq_MEFs_Mouse1.23090358
123CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.22968225
124NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.22884984
125STAT1_20625510_ChIP-Seq_HELA_Human1.21870744
126SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.21036484
127TCF3_18692474_ChIP-Seq_MEFs_Mouse1.20324953
128MYB_26560356_Chip-Seq_TH1_Human1.19137674
129* ERA_21632823_ChIP-Seq_H3396_Human1.18844667
130CTCF_21964334_ChIP-Seq_BJAB-B_Human1.18419198
131FOXM1_23109430_ChIP-Seq_U2OS_Human1.18291115
132TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18260518
133SPI1_20517297_ChIP-Seq_HL60_Human1.16915440
134GATA3_27048872_Chip-Seq_THYMUS_Human1.15952804
135ZFX_18555785_ChIP-Seq_MESCs_Mouse1.15779559
136ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.15586602
137GATA1_22025678_ChIP-Seq_K562_Human1.14975736
138SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.14788768
139* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.14577900
140MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.13785264
141FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.13751490
142E2F4_17652178_ChIP-ChIP_JURKAT_Human1.13356807
143HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.11420785
144SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.11098246
145CTCF_21964334_Chip-Seq_Bcells_Human1.10990504
146RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.10440398
147TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.10437552
148BRD4_27068464_Chip-Seq_AML-cells_Mouse1.10172954
149GATA2_22383799_ChIP-Seq_G1ME_Mouse1.09549222
150* TTF2_22483619_ChIP-Seq_HELA_Human1.08068620
151KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06841644
152SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.06715617
153SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.06387276
154POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.06335845
155* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.05650295
156PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.05548023
157RARB_24833708_ChIP-Seq_LIVER_Mouse1.05346282
158KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.04930862
159KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.04930862
160KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.04930862
161IKZF1_21737484_ChIP-ChIP_HCT116_Human1.04294797
162ELF1_17652178_ChIP-ChIP_JURKAT_Human1.03332244
163SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03055027
164ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.02406173
165MYB_21317192_ChIP-Seq_ERMYB_Mouse1.02214058
166NANOG_18692474_ChIP-Seq_MEFs_Mouse0.99500694
167SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.97864417
168ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.97358659
169STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95331984
170DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.95017588
171SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.94990872
172CIITA_25753668_ChIP-Seq_RAJI_Human0.94620515
173* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.94225124
174* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.93371029
175FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.93117947
176* POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.92688137
177YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.92474920
178RARG_19884340_ChIP-ChIP_MEFs_Mouse0.92385965
179TET1_21451524_ChIP-Seq_MESCs_Mouse0.91440105
180KAP1_22055183_ChIP-Seq_ESCs_Mouse0.90269981
181* NANOG_21062744_ChIP-ChIP_HESCs_Human0.89675831
182TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.87736543
183KAP1_27257070_Chip-Seq_ESCs_Mouse0.87523429
184CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.87161250
185SOX2_18692474_ChIP-Seq_MESCs_Mouse0.86422450

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.36464115
2MP0005365_abnormal_bile_salt4.17188105
3MP0008260_abnormal_autophagy3.98621990
4MP0005085_abnormal_gallbladder_physiolo3.96318009
5MP0003436_decreased_susceptibility_to3.92853752
6MP0009840_abnormal_foam_cell3.89043013
7MP0003693_abnormal_embryo_hatching3.81286481
8MP0003806_abnormal_nucleotide_metabolis3.76010769
9MP0003724_increased_susceptibility_to3.73809204
10MP0005360_urolithiasis3.64129324
11MP0003718_maternal_effect3.45670243
12MP0005332_abnormal_amino_acid3.02099367
13MP0008875_abnormal_xenobiotic_pharmacok2.98591695
14MP0001835_abnormal_antigen_presentation2.96797091
15MP0005671_abnormal_response_to2.87434290
16MP0009785_altered_susceptibility_to2.83820068
17MP0000685_abnormal_immune_system2.62879914
18MP0002148_abnormal_hypersensitivity_rea2.60350332
19MP0004957_abnormal_blastocyst_morpholog2.58700431
20MP0003111_abnormal_nucleus_morphology2.53518881
21MP0005000_abnormal_immune_tolerance2.47231703
22MP0005387_immune_system_phenotype2.46878026
23MP0001790_abnormal_immune_system2.46878026
24MP0001800_abnormal_humoral_immune2.43102791
25MP0005025_abnormal_response_to2.41753601
26MP0003191_abnormal_cellular_cholesterol2.39386509
27MP0002723_abnormal_immune_serum2.33956419
28MP0010329_abnormal_lipoprotein_level2.32429011
29MP0002419_abnormal_innate_immunity2.26053207
30MP0001542_abnormal_bone_strength2.24183971
31MP0005083_abnormal_biliary_tract2.17514352
32MP0005464_abnormal_platelet_physiology2.15440789
33MP0001533_abnormal_skeleton_physiology2.12111466
34MP0002420_abnormal_adaptive_immunity2.10798304
35MP0001819_abnormal_immune_cell2.07994921
36MP0004019_abnormal_vitamin_homeostasis2.07665198
37MP0002452_abnormal_antigen_presenting2.05283778
38MP0001986_abnormal_taste_sensitivity2.02491231
39MP0001666_abnormal_nutrient_absorption1.98044884
40MP0003786_premature_aging1.97725807
41MP0006036_abnormal_mitochondrial_physio1.89344853
42MP0003186_abnormal_redox_activity1.88248712
43MP0005451_abnormal_body_composition1.87914038
44MP0009764_decreased_sensitivity_to1.86279198
45MP0003656_abnormal_erythrocyte_physiolo1.84337511
46MP0003763_abnormal_thymus_physiology1.83560654
47MP0006082_CNS_inflammation1.79040492
48MP0006035_abnormal_mitochondrial_morpho1.77956564
49MP0001661_extended_life_span1.77716555
50MP0003123_paternal_imprinting1.75870136
51MP0003303_peritoneal_inflammation1.70830953
52MP0003077_abnormal_cell_cycle1.70409458
53MP0000609_abnormal_liver_physiology1.68241647
54MP0005319_abnormal_enzyme/_coenzyme1.66266218
55MP0002405_respiratory_system_inflammati1.66230911
56MP0002118_abnormal_lipid_homeostasis1.63633066
57MP0001764_abnormal_homeostasis1.59612337
58MP0001845_abnormal_inflammatory_respons1.59493367
59MP0000716_abnormal_immune_system1.58765310
60MP0003866_abnormal_defecation1.54871714
61MP0010155_abnormal_intestine_physiology1.54343669
62MP0002398_abnormal_bone_marrow1.51933073
63MP0008469_abnormal_protein_level1.48242663
64MP0003646_muscle_fatigue1.47927433
65MP0005395_other_phenotype1.47467415
66MP0002933_joint_inflammation1.47013169
67MP0003172_abnormal_lysosome_physiology1.46990594
68MP0001730_embryonic_growth_arrest1.43214199
69MP0009643_abnormal_urine_homeostasis1.43196444
70MP0001756_abnormal_urination1.42222626
71MP0005670_abnormal_white_adipose1.42080890
72MP0010094_abnormal_chromosome_stability1.38737939
73MP0000689_abnormal_spleen_morphology1.37625810
74MP0008058_abnormal_DNA_repair1.36984254
75MP0002332_abnormal_exercise_endurance1.35866586
76MP0005058_abnormal_lysosome_morphology1.33649349
77MP0002429_abnormal_blood_cell1.30910266
78MP0003075_altered_response_to1.29842367
79MP0003195_calcinosis1.28240411
80MP0002722_abnormal_immune_system1.28011781
81MP0002269_muscular_atrophy1.26854194
82MP0000747_muscle_weakness1.24911880
83MP0008057_abnormal_DNA_replication1.20284581
84MP0002132_abnormal_respiratory_system1.18848069
85MP0000358_abnormal_cell_content/1.17357042
86MP0004947_skin_inflammation1.17308008
87MP0002277_abnormal_respiratory_mucosa1.17293877
88MP0003011_delayed_dark_adaptation1.17208152
89MP0003221_abnormal_cardiomyocyte_apopto1.16553095
90MP0008932_abnormal_embryonic_tissue1.14392675
91MP0004084_abnormal_cardiac_muscle1.10930197
92MP0001672_abnormal_embryogenesis/_devel1.08562798
93MP0005380_embryogenesis_phenotype1.08562798
94MP0001545_abnormal_hematopoietic_system1.07526536
95MP0005397_hematopoietic_system_phenotyp1.07526536
96MP0003828_pulmonary_edema1.07448657
97MP0005075_abnormal_melanosome_morpholog1.07004242
98MP0000343_altered_response_to1.06400685
99MP0005390_skeleton_phenotype1.05797588
100MP0000598_abnormal_liver_morphology1.02033668
101MP0005330_cardiomyopathy1.00957020
102MP0003252_abnormal_bile_duct1.00119015
103MP0000703_abnormal_thymus_morphology1.00005337
104MP0000750_abnormal_muscle_regeneration0.99926086
105MP0005636_abnormal_mineral_homeostasis0.99741788
106MP0000015_abnormal_ear_pigmentation0.97184707
107MP0003984_embryonic_growth_retardation0.96287967
108MP0000604_amyloidosis0.96163430
109MP0000350_abnormal_cell_proliferation0.95351611
110MP0002080_prenatal_lethality0.94044488
111MP0009278_abnormal_bone_marrow0.93643695
112MP0002396_abnormal_hematopoietic_system0.92820408
113MP0002088_abnormal_embryonic_growth/wei0.92760705
114MP0004381_abnormal_hair_follicle0.91041314
115MP0004510_myositis0.90897595
116MP0009333_abnormal_splenocyte_physiolog0.89649086
117MP0003941_abnormal_skin_development0.89292634
118MP0005584_abnormal_enzyme/coenzyme_acti0.88290321
119MP0000858_altered_metastatic_potential0.88145444
120MP0002138_abnormal_hepatobiliary_system0.87769678
121MP0005376_homeostasis/metabolism_phenot0.86861262
122MP0005266_abnormal_metabolism0.86598243
123MP0008007_abnormal_cellular_replicative0.85852465
124MP0001873_stomach_inflammation0.85260756
125MP0005166_decreased_susceptibility_to0.85107970
126MP0004782_abnormal_surfactant_physiolog0.84699699
127MP0004264_abnormal_extraembryonic_tissu0.84633932
128MP0000465_gastrointestinal_hemorrhage0.83850444
129MP0001663_abnormal_digestive_system0.82902918
130MP0001697_abnormal_embryo_size0.82360318
131MP0002998_abnormal_bone_remodeling0.79504301
132MP0002796_impaired_skin_barrier0.79252529
133MP0001853_heart_inflammation0.77734287
134MP0010368_abnormal_lymphatic_system0.77632024
135MP0002102_abnormal_ear_morphology0.77172519
136MP0009763_increased_sensitivity_to0.75916056
137MP0008872_abnormal_physiological_respon0.75642962
138MP0003567_abnormal_fetal_cardiomyocyte0.75428295
139MP0005165_increased_susceptibility_to0.75217444
140MP0004883_abnormal_blood_vessel0.74364600
141MP0005174_abnormal_tail_pigmentation0.73966296
142MP0008995_early_reproductive_senescence0.72228029
143MP0003279_aneurysm0.72207245
144MP0002136_abnormal_kidney_physiology0.71624612
145MP0002086_abnormal_extraembryonic_tissu0.71029246
146MP0009697_abnormal_copulation0.69961727
147MP0001958_emphysema0.69234582
148MP0003329_amyloid_beta_deposits0.67712265
149MP0003879_abnormal_hair_cell0.67588204
150MP0001905_abnormal_dopamine_level0.67318831
151MP0006138_congestive_heart_failure0.67246566
152MP0002254_reproductive_system_inflammat0.67132898
153MP0004043_abnormal_pH_regulation0.66802597
154MP0004147_increased_porphyrin_level0.66381831
155MP0005384_cellular_phenotype0.62651679
156MP0009672_abnormal_birth_weight0.62034487
157MP0002876_abnormal_thyroid_physiology0.61707180
158MP0004036_abnormal_muscle_relaxation0.61020094
159MP0005621_abnormal_cell_physiology0.60975716
160MP0009642_abnormal_blood_homeostasis0.60517259
161MP0003878_abnormal_ear_physiology0.60506077
162MP0005377_hearing/vestibular/ear_phenot0.60506077
163MP0004130_abnormal_muscle_cell0.59287900
164MP0002653_abnormal_ependyma_morphology0.58990117
165MP0000313_abnormal_cell_death0.58911861
166MP0009765_abnormal_xenobiotic_induced0.58413219
167MP0002127_abnormal_cardiovascular_syste0.58121399
168MP0005220_abnormal_exocrine_pancreas0.57688499
169MP0002019_abnormal_tumor_incidence0.56739959

Predicted human phenotypes

RankGene SetZ-score
1Hyperglycinemia (HP:0002154)6.56742220
2Hyperglycinuria (HP:0003108)6.00469786
3Gout (HP:0001997)5.72394859
4Abnormality of glycine metabolism (HP:0010895)5.35586294
5Abnormality of serine family amino acid metabolism (HP:0010894)5.35586294
6Cerebral hypomyelination (HP:0006808)4.50630447
7Myositis (HP:0100614)4.49392124
8Elevated erythrocyte sedimentation rate (HP:0003565)4.36644050
9Abnormality of serum amino acid levels (HP:0003112)4.31223496
10Abnormality of aromatic amino acid family metabolism (HP:0004338)4.24429398
11Stomatitis (HP:0010280)4.11962480
12Orchitis (HP:0100796)3.88776956
13Birth length less than 3rd percentile (HP:0003561)3.88093309
14Breast hypoplasia (HP:0003187)3.73839750
15Optic neuritis (HP:0100653)3.57939446
16Retrobulbar optic neuritis (HP:0100654)3.57939446
17Carpal bone hypoplasia (HP:0001498)3.51672205
18Abnormality of macrophages (HP:0004311)3.44628810
19Gastrointestinal infarctions (HP:0005244)3.40676480
20Hypobetalipoproteinemia (HP:0003563)3.36350511
21Eczematoid dermatitis (HP:0000976)3.31312123
22Abnormality of monocarboxylic acid metabolism (HP:0010996)3.24597755
23Progressive muscle weakness (HP:0003323)3.23099698
24Multiple enchondromatosis (HP:0005701)3.20285689
25Hyperlipoproteinemia (HP:0010980)3.20056509
26Abnormal delayed hypersensitivity skin test (HP:0002963)3.19587140
27Abnormality of glycolipid metabolism (HP:0010969)3.18053249
28Abnormality of liposaccharide metabolism (HP:0010968)3.18053249
29Abnormality of glycosphingolipid metabolism (HP:0004343)3.18053249
30Ureteral duplication (HP:0000073)3.17383868
31Recurrent abscess formation (HP:0002722)3.13678979
32Recurrent bacterial skin infections (HP:0005406)3.12238820
33Lethargy (HP:0001254)3.04972536
34Recurrent fungal infections (HP:0002841)3.04898302
35Hyperammonemia (HP:0001987)3.02208953
36Impulsivity (HP:0100710)2.99286370
37Abnormality of fatty-acid metabolism (HP:0004359)2.97740730
38Abnormality of the heme biosynthetic pathway (HP:0010472)2.96771102
39Abnormality of the umbilical cord (HP:0010881)2.96101507
40Chronic mucocutaneous candidiasis (HP:0002728)2.95265334
41Recurrent cutaneous fungal infections (HP:0011370)2.95265334
42Chronic obstructive pulmonary disease (HP:0006510)2.92098518
43Obstructive lung disease (HP:0006536)2.92098518
44Encephalitis (HP:0002383)2.90044111
45Increased purine levels (HP:0004368)2.87782040
46Hyperuricemia (HP:0002149)2.87782040
47Xanthomatosis (HP:0000991)2.86508287
48Death in infancy (HP:0001522)2.85832063
49Atrioventricular block (HP:0001678)2.81775852
50Pulmonary infiltrates (HP:0002113)2.81391980
51Delusions (HP:0000746)2.78928159
52Megaloblastic anemia (HP:0001889)2.78423754
53CNS hypomyelination (HP:0003429)2.78314693
54Intrahepatic cholestasis (HP:0001406)2.78234861
55Tetraplegia (HP:0002445)2.76907860
56Rough bone trabeculation (HP:0100670)2.76329100
57Dicarboxylic aciduria (HP:0003215)2.71529687
58Abnormality of dicarboxylic acid metabolism (HP:0010995)2.71529687
59Mediastinal lymphadenopathy (HP:0100721)2.70499994
60Increased serum ferritin (HP:0003281)2.70440140
61Petechiae (HP:0000967)2.70093458
62Deep venous thrombosis (HP:0002625)2.65620119
63Hypochromic anemia (HP:0001931)2.64055289
64Increased IgM level (HP:0003496)2.63541262
65CNS demyelination (HP:0007305)2.63082568
66Recurrent skin infections (HP:0001581)2.62298268
67Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.59032551
68Episodic fever (HP:0001954)2.56295738
69Secondary amenorrhea (HP:0000869)2.56074518
70Meningitis (HP:0001287)2.54014308
71Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.53512246
72Hypochromic microcytic anemia (HP:0004840)2.53168233
73Premature ovarian failure (HP:0008209)2.52213957
74Hyperglycemia (HP:0003074)2.50974863
75Areflexia of lower limbs (HP:0002522)2.50804424
76Prolonged partial thromboplastin time (HP:0003645)2.50495805
77T lymphocytopenia (HP:0005403)2.49562910
78Abnormality of iron homeostasis (HP:0011031)2.47098145
79Dysostosis multiplex (HP:0000943)2.46892932
80IgG deficiency (HP:0004315)2.46594064
81Abnormality of T cells (HP:0002843)2.46520688
82Abnormality of purine metabolism (HP:0004352)2.45824792
83Abnormality of T cell number (HP:0011839)2.44595986
84Polycythemia (HP:0001901)2.44581691
85Urticaria (HP:0001025)2.42141640
86Vasculitis (HP:0002633)2.41638426
87Entropion (HP:0000621)2.41635891
88Pustule (HP:0200039)2.41430043
89Abnormality of mucopolysaccharide metabolism (HP:0011020)2.39596720
90Abnormality of polysaccharide metabolism (HP:0011012)2.39596720
91Abnormality of glycosaminoglycan metabolism (HP:0004371)2.39596720
92Irritability (HP:0000737)2.39465972
93Hyperalaninemia (HP:0003348)2.38081371
94Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.38081371
95Abnormality of alanine metabolism (HP:0010916)2.38081371
96Abnormality of nucleobase metabolism (HP:0010932)2.36923066
97Abnormality of sulfur amino acid metabolism (HP:0004339)2.36020302
98Anorexia (HP:0002039)2.35207355
99Keratoconjunctivitis sicca (HP:0001097)2.34370659
100Keratoconjunctivitis (HP:0001096)2.33475993
101Hemoptysis (HP:0002105)2.33322685
102Prolonged bleeding time (HP:0003010)2.32358753
103Hypolipoproteinemia (HP:0010981)2.31747839
104Abnormality of transition element cation homeostasis (HP:0011030)2.31257259
105Increased IgE level (HP:0003212)2.30836059
106Muscle fiber splitting (HP:0003555)2.29260959
107Global brain atrophy (HP:0002283)2.28871544
108Abnormal cartilage morphology (HP:0002763)2.28476218
109Abnormality of T cell physiology (HP:0011840)2.28366326
110Purpura (HP:0000979)2.28309699
111Recurrent gram-negative bacterial infections (HP:0005420)2.27203935
112Hypertensive crisis (HP:0100735)2.22484040
113Brushfield spots (HP:0001088)2.20714465
114Leukocytosis (HP:0001974)2.19920400
115Abnormality of pyrimidine metabolism (HP:0004353)2.19119613
116Panhypogammaglobulinemia (HP:0003139)2.18802327
117Cerebral palsy (HP:0100021)2.17996313
118Microcytic anemia (HP:0001935)2.17494140
119Chest pain (HP:0100749)2.15135523
120Aplasia/Hypoplasia involving the musculature (HP:0001460)2.13846319
121Degeneration of anterior horn cells (HP:0002398)2.13372870
122Abnormality of the anterior horn cell (HP:0006802)2.13372870
123Absent rod-and cone-mediated responses on ERG (HP:0007688)2.12499444
124Patent foramen ovale (HP:0001655)2.12197754
125Vacuolated lymphocytes (HP:0001922)2.12186260
126Granulocytopenia (HP:0001913)2.12143038
127Microretrognathia (HP:0000308)2.08394293
128Sparse eyelashes (HP:0000653)2.07014231
129Acne (HP:0001061)2.06687451
130Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.06438623
131Metabolic acidosis (HP:0001942)2.05114228
132Increased neuronal autofluorescent lipopigment (HP:0002074)2.04726476
133Delayed CNS myelination (HP:0002188)2.04384875
134Keratitis (HP:0000491)2.03980027
135Abnormalities of placenta or umbilical cord (HP:0001194)2.02569719
136Prolonged neonatal jaundice (HP:0006579)2.02094124
137Joint swelling (HP:0001386)2.01440741
138Urinary glycosaminoglycan excretion (HP:0003541)2.01261373
139Mucopolysacchariduria (HP:0008155)2.01261373
140Malnutrition (HP:0004395)2.00741642
141Abnormal hemoglobin (HP:0011902)2.00740534
142Patellar aplasia (HP:0006443)2.00647544
143Epistaxis (HP:0000421)1.99984320
144Abnormality of the intrinsic pathway (HP:0010989)1.99520168
145Postnatal microcephaly (HP:0005484)1.99467066
146Spastic diplegia (HP:0001264)1.99304109
147Aplasia/Hypoplasia of the patella (HP:0006498)1.98951609
148Nausea (HP:0002018)1.98298375
149Abnormality of methionine metabolism (HP:0010901)1.97695762
150Ketosis (HP:0001946)1.97469732
151Increased cerebral lipofuscin (HP:0011813)1.95667559
152Abnormality of the pericardium (HP:0001697)1.95504960
153Gingival bleeding (HP:0000225)1.94660066
154Muscle fibrillation (HP:0010546)1.94027047
155Tongue fasciculations (HP:0001308)1.93691221
156Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.93539081
157Abnormality of aspartate family amino acid metabolism (HP:0010899)1.93492208
158Increased muscle lipid content (HP:0009058)1.91341083
159Hepatosplenomegaly (HP:0001433)1.90932155
160Abnormal trabecular bone morphology (HP:0100671)1.90706878
161Restlessness (HP:0000711)1.90704129
162Hypoglycemic coma (HP:0001325)1.89770419
163Inflammation of the large intestine (HP:0002037)1.88011430
164Abnormality of the pleura (HP:0002103)1.86513177
165Personality changes (HP:0000751)1.86439634
166Vertebral compression fractures (HP:0002953)1.86328793
167Increased serum pyruvate (HP:0003542)1.85707845
168Abnormality of glycolysis (HP:0004366)1.85707845
169Fat malabsorption (HP:0002630)1.85543207
1703-Methylglutaconic aciduria (HP:0003535)1.84683771
171Bundle branch block (HP:0011710)1.83751284
172Hypergammaglobulinemia (HP:0010702)1.83423467
173Myopathic facies (HP:0002058)1.82514609
174Recurrent viral infections (HP:0004429)1.82181023
175Hepatic necrosis (HP:0002605)1.81868115
176Oral leukoplakia (HP:0002745)1.80937752
177Skin rash (HP:0000988)1.80386585
178Gangrene (HP:0100758)1.79739254
179Amyloidosis (HP:0011034)1.79265585
180Increased intramyocellular lipid droplets (HP:0012240)1.78792821
181Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.78481370
182Steatorrhea (HP:0002570)1.78367739
183Abnormality of the distal phalanges of the toes (HP:0010182)1.78365117
184Emotional lability (HP:0000712)1.78330943
185Brittle hair (HP:0002299)1.78279075
186Complement deficiency (HP:0004431)1.78051485
187Agammaglobulinemia (HP:0004432)1.77656599
188Severe visual impairment (HP:0001141)1.77244795
189Stenosis of the external auditory canal (HP:0000402)1.77126288
190Eosinophilia (HP:0001880)1.75323272
191Mitochondrial inheritance (HP:0001427)1.75310201
192Gastrointestinal inflammation (HP:0004386)1.74490560
193Abnormality of eosinophils (HP:0001879)1.74195685
194Decreased electroretinogram (ERG) amplitude (HP:0000654)1.73393453
195Vertigo (HP:0002321)1.71528917
196Acute hepatic failure (HP:0006554)1.70314392
197Peritonitis (HP:0002586)1.70304846
198Albinism (HP:0001022)1.70164073

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.27602259
2WEE14.89868727
3AKT34.44298477
4TSSK63.79122107
5TXK3.31668363
6BCKDK3.26574422
7EPHA23.07745835
8NME22.72902306
9STK162.64908763
10PINK12.62585207
11RIPK42.40924619
12ARAF2.39378745
13PDK42.30748979
14PDK32.30748979
15EIF2AK12.22692897
16TAOK32.21780688
17NEK12.20044189
18TBK12.18129685
19TYK22.02425611
20IRAK42.01171252
21BRSK21.98932779
22PNCK1.95382757
23TNK21.91366410
24PIM21.86422299
25FES1.85553575
26BLK1.78688249
27MAP3K111.77578249
28IKBKE1.75703261
29IKBKB1.73856286
30PLK41.71631753
31TLK11.71164923
32DYRK31.69272658
33PDK21.65744171
34NEK21.61293605
35BRAF1.57222373
36TESK11.54830412
37ZAK1.54364859
38JAK31.53213191
39ADRBK21.53107218
40EIF2AK31.50166366
41PLK11.44975733
42EPHB11.44904613
43CCNB11.44421109
44LIMK11.42584202
45CSK1.40656383
46TTK1.38361817
47MAPKAPK31.35508266
48SYK1.34838268
49ACVR1B1.34284587
50MAP2K21.31617647
51BRSK11.30355538
52PLK31.25857556
53SRPK11.18880534
54TAOK21.15154635
55BTK1.13409281
56MAP3K31.10681917
57PTK2B1.09101306
58MAP2K61.08196901
59TAOK11.06354367
60GRK71.06080227
61MARK31.03868720
62HCK1.02306474
63LYN1.02126070
64ADRBK11.00654850
65MAP2K30.98894060
66GRK50.97718767
67MAPK120.95178513
68MAP3K10.94619620
69PRKD20.94361771
70LCK0.92049104
71ITK0.88665193
72AURKA0.88112129
73FGFR40.84053652
74KIT0.82784193
75MATK0.82692574
76MYLK0.82161971
77SIK20.80863765
78PRPF4B0.80640522
79PRKCQ0.80448506
80AURKB0.79395055
81PRKCI0.79335522
82ERN10.77567435
83CAMKK10.74009315
84CDC42BPA0.73545190
85NME10.73301487
86LATS20.72903640
87CSF1R0.72515682
88MKNK20.72256285
89IRAK10.72129936
90PIM10.70872981
91ALK0.70868976
92MAP3K80.70529434
93IRAK30.70331006
94CHEK20.69349284
95CDK70.69255069
96PHKG10.68801226
97PHKG20.68801226
98PAK10.67707510
99TRIB30.66338698
100CSNK1G30.66168829
101MAP3K140.65908444
102PTK60.65746710
103JAK10.65675952
104CSNK1G10.62206188
105MAP2K10.61351642
106BMX0.61155443
107BMPR20.60317649
108MAP3K120.60073251
109JAK20.59375624
110RPS6KB20.59299963
111BMPR1B0.59077611
112SIK30.58124615
113RPS6KA60.57157349
114ZAP700.55841751
115MARK20.55434785
116RPS6KA40.55280526
117PIK3CG0.54874508
118CDK40.54274287
119MAP3K90.53971149
120ABL20.53724426
121CAMKK20.52657477
122TESK20.52293550
123RAF10.52230599
124TIE10.51647866
125MAPKAPK20.50701619
126GRK60.50484726
127HIPK20.50484209
128MAPK70.50425126
129CDK190.50247565
130NUAK10.49012814
131WNK40.47686741
132RPS6KA50.47136403
133PDK10.45863815
134TGFBR20.45389667
135MAP3K70.42753585
136MAPK110.41960034
137STK38L0.41935604
138PRKAA10.41859927
139LRRK20.40289372
140CAMK2G0.39361874
141CHUK0.39121563
142PAK40.37582297
143DAPK20.37522621
144CSNK2A10.36960689
145STK30.36103742
146STK100.35528370
147CSNK2A20.35313452
148GRK10.33909071
149STK240.33249936
150CSNK1E0.31626628
151CSNK1G20.30921775
152CSNK1A1L0.29417027
153CDK20.28165225
154PRKCG0.28059290
155EIF2AK20.27174128
156PDPK10.25123569
157MKNK10.25022698
158KDR0.24754467
159CHEK10.23406025
160DAPK30.22097746
161MAPK40.21945473
162DAPK10.21488525
163MOS0.21474683
164OXSR10.20538460
165MAP4K10.19867106
166CSNK1A10.19336332
167CDK60.18982215
168VRK10.18436637
169OBSCN0.18133199

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007505.98008520
2Graft-versus-host disease_Homo sapiens_hsa053323.19669176
3Primary immunodeficiency_Homo sapiens_hsa053403.13452922
4Glycine, serine and threonine metabolism_Homo sapiens_hsa002603.06009756
5RNA polymerase_Homo sapiens_hsa030203.04015655
6Proteasome_Homo sapiens_hsa030502.91081705
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.86156053
8Allograft rejection_Homo sapiens_hsa053302.80638248
9Folate biosynthesis_Homo sapiens_hsa007902.80558602
10Autoimmune thyroid disease_Homo sapiens_hsa053202.73990613
11Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.55437863
12Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.43590227
13Primary bile acid biosynthesis_Homo sapiens_hsa001202.36181051
14Regulation of autophagy_Homo sapiens_hsa041402.33455709
15Intestinal immune network for IgA production_Homo sapiens_hsa046722.28844159
16Other glycan degradation_Homo sapiens_hsa005112.14109065
17Glycosaminoglycan degradation_Homo sapiens_hsa005312.10857724
182-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.05221160
19NF-kappa B signaling pathway_Homo sapiens_hsa040642.04072496
20Osteoclast differentiation_Homo sapiens_hsa043802.03547363
21Cysteine and methionine metabolism_Homo sapiens_hsa002701.98711819
22Leishmaniasis_Homo sapiens_hsa051401.97059922
23RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.96344433
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.92659259
25Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.92532434
26Drug metabolism - other enzymes_Homo sapiens_hsa009831.89856150
27Antigen processing and presentation_Homo sapiens_hsa046121.87910325
28Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.86042371
29Hematopoietic cell lineage_Homo sapiens_hsa046401.83880057
30Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.83865728
31Type I diabetes mellitus_Homo sapiens_hsa049401.79662747
32Rheumatoid arthritis_Homo sapiens_hsa053231.79201476
33Toll-like receptor signaling pathway_Homo sapiens_hsa046201.76929682
34SNARE interactions in vesicular transport_Homo sapiens_hsa041301.76447109
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.72751981
36NOD-like receptor signaling pathway_Homo sapiens_hsa046211.72013585
37Biosynthesis of amino acids_Homo sapiens_hsa012301.71689207
38Pyrimidine metabolism_Homo sapiens_hsa002401.66765920
39RNA transport_Homo sapiens_hsa030131.62344764
40Pentose phosphate pathway_Homo sapiens_hsa000301.62064575
41Asthma_Homo sapiens_hsa053101.59146305
42Arginine biosynthesis_Homo sapiens_hsa002201.58847984
43Malaria_Homo sapiens_hsa051441.54855163
44Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.53326394
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.52249328
46Ribosome_Homo sapiens_hsa030101.50916557
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.48689604
48Vitamin digestion and absorption_Homo sapiens_hsa049771.46030209
49Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.45399785
50Carbon metabolism_Homo sapiens_hsa012001.45173109
51Sulfur relay system_Homo sapiens_hsa041221.43059199
52Butanoate metabolism_Homo sapiens_hsa006501.42340311
53Tryptophan metabolism_Homo sapiens_hsa003801.42299086
54Tuberculosis_Homo sapiens_hsa051521.40880948
55Fatty acid degradation_Homo sapiens_hsa000711.40702717
56Nitrogen metabolism_Homo sapiens_hsa009101.40464535
57Measles_Homo sapiens_hsa051621.33648382
58Fructose and mannose metabolism_Homo sapiens_hsa000511.33274042
59beta-Alanine metabolism_Homo sapiens_hsa004101.33217702
60Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.32381230
61Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.31780797
62T cell receptor signaling pathway_Homo sapiens_hsa046601.29278116
63Selenocompound metabolism_Homo sapiens_hsa004501.28529926
64Glycerophospholipid metabolism_Homo sapiens_hsa005641.28086432
65TNF signaling pathway_Homo sapiens_hsa046681.27461404
66Pentose and glucuronate interconversions_Homo sapiens_hsa000401.26948450
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.26237402
68Peroxisome_Homo sapiens_hsa041461.23891623
69Propanoate metabolism_Homo sapiens_hsa006401.20596748
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.19313442
71DNA replication_Homo sapiens_hsa030301.19233522
72Fatty acid metabolism_Homo sapiens_hsa012121.15368624
73Viral myocarditis_Homo sapiens_hsa054161.14997727
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.14585302
75Chemokine signaling pathway_Homo sapiens_hsa040621.14379788
76Collecting duct acid secretion_Homo sapiens_hsa049661.10901089
77Arginine and proline metabolism_Homo sapiens_hsa003301.08159767
78Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.07136152
79Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.05191442
80Jak-STAT signaling pathway_Homo sapiens_hsa046301.04071382
81Purine metabolism_Homo sapiens_hsa002301.03817053
82Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.02383402
83Fatty acid elongation_Homo sapiens_hsa000621.01567142
84B cell receptor signaling pathway_Homo sapiens_hsa046621.01055163
85Pertussis_Homo sapiens_hsa051331.00090636
86Histidine metabolism_Homo sapiens_hsa003400.97702953
87Toxoplasmosis_Homo sapiens_hsa051450.96376551
88African trypanosomiasis_Homo sapiens_hsa051430.95857550
89Glutathione metabolism_Homo sapiens_hsa004800.94049290
90Complement and coagulation cascades_Homo sapiens_hsa046100.93852003
91PPAR signaling pathway_Homo sapiens_hsa033200.93478392
92Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.92620001
93One carbon pool by folate_Homo sapiens_hsa006700.92411950
94Nucleotide excision repair_Homo sapiens_hsa034200.91982497
95Spliceosome_Homo sapiens_hsa030400.89080065
96Parkinsons disease_Homo sapiens_hsa050120.88209496
97Herpes simplex infection_Homo sapiens_hsa051680.87187152
98Cyanoamino acid metabolism_Homo sapiens_hsa004600.85692420
99Pyruvate metabolism_Homo sapiens_hsa006200.85212795
100Cell cycle_Homo sapiens_hsa041100.84544102
101Retinol metabolism_Homo sapiens_hsa008300.83565928
102Influenza A_Homo sapiens_hsa051640.82415096
103Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.81206476
104Caffeine metabolism_Homo sapiens_hsa002320.80386270
105Mismatch repair_Homo sapiens_hsa034300.80281648
106Metabolic pathways_Homo sapiens_hsa011000.79487052
107Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.79383775
108Phenylalanine metabolism_Homo sapiens_hsa003600.78549345
109Base excision repair_Homo sapiens_hsa034100.77679603
110Shigellosis_Homo sapiens_hsa051310.77035181
111Chemical carcinogenesis_Homo sapiens_hsa052040.76293099
112Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.74989990
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72948597
114Glycerolipid metabolism_Homo sapiens_hsa005610.72898857
115Adipocytokine signaling pathway_Homo sapiens_hsa049200.70421403
116Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.70239159
117Apoptosis_Homo sapiens_hsa042100.70109111
118Homologous recombination_Homo sapiens_hsa034400.68192572
119Basal transcription factors_Homo sapiens_hsa030220.68156218
120Phagosome_Homo sapiens_hsa041450.67853616
121Legionellosis_Homo sapiens_hsa051340.65696073
122Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.63484126
123Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.62455214
124Acute myeloid leukemia_Homo sapiens_hsa052210.62372290
125p53 signaling pathway_Homo sapiens_hsa041150.61191665
126Tyrosine metabolism_Homo sapiens_hsa003500.60321969
127Hepatitis C_Homo sapiens_hsa051600.59876451
128Salmonella infection_Homo sapiens_hsa051320.58679988
129Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58174595
130Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.55368600
131Galactose metabolism_Homo sapiens_hsa000520.55344624
132Steroid hormone biosynthesis_Homo sapiens_hsa001400.54931946
133Endocytosis_Homo sapiens_hsa041440.53298182
134Fat digestion and absorption_Homo sapiens_hsa049750.49975178
135Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49869728
136Platelet activation_Homo sapiens_hsa046110.48235044
137Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.45865313
138Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.44899453
139Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44645880
140Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43858318
141Circadian rhythm_Homo sapiens_hsa047100.42148998
142Ether lipid metabolism_Homo sapiens_hsa005650.42120625
143Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.41206734
144VEGF signaling pathway_Homo sapiens_hsa043700.40205894
145Epstein-Barr virus infection_Homo sapiens_hsa051690.39561416
146ABC transporters_Homo sapiens_hsa020100.38798049
147Arachidonic acid metabolism_Homo sapiens_hsa005900.37227569
148Linoleic acid metabolism_Homo sapiens_hsa005910.36739498
149Alzheimers disease_Homo sapiens_hsa050100.36182406
150Starch and sucrose metabolism_Homo sapiens_hsa005000.36117814
151Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.35635564
152Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.34674994
153Sulfur metabolism_Homo sapiens_hsa009200.33019060
154alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.32261419
155Lysosome_Homo sapiens_hsa041420.30023504
156Hepatitis B_Homo sapiens_hsa051610.28769649
157Bile secretion_Homo sapiens_hsa049760.28460604
158Ovarian steroidogenesis_Homo sapiens_hsa049130.28422396
159Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.26375370
160Oocyte meiosis_Homo sapiens_hsa041140.24990694
161Staphylococcus aureus infection_Homo sapiens_hsa051500.24231201
162Insulin resistance_Homo sapiens_hsa049310.24110353
163Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.24101733
164Maturity onset diabetes of the young_Homo sapiens_hsa049500.23655469
165Steroid biosynthesis_Homo sapiens_hsa001000.21254530
166Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.19816091
167Oxidative phosphorylation_Homo sapiens_hsa001900.19057640

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