PPT2

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 palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1urate metabolic process (GO:0046415)5.59014104
2lysine metabolic process (GO:0006553)5.56408337
3lysine catabolic process (GO:0006554)5.56408337
4serine family amino acid catabolic process (GO:0009071)5.29454518
5glyoxylate metabolic process (GO:0046487)5.28097847
6cysteine metabolic process (GO:0006534)5.13816137
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.93613200
8L-phenylalanine metabolic process (GO:0006558)4.93613200
9fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.86766831
10L-phenylalanine catabolic process (GO:0006559)4.83487983
11erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.83487983
12aromatic amino acid family catabolic process (GO:0009074)4.78646239
13indole-containing compound catabolic process (GO:0042436)4.76028856
14indolalkylamine catabolic process (GO:0046218)4.76028856
15tryptophan catabolic process (GO:0006569)4.76028856
16drug transmembrane transport (GO:0006855)4.60454904
17kynurenine metabolic process (GO:0070189)4.52821140
18tryptophan metabolic process (GO:0006568)4.48213855
19sulfur amino acid catabolic process (GO:0000098)4.47114947
20amino-acid betaine metabolic process (GO:0006577)4.44812270
21serine family amino acid metabolic process (GO:0009069)4.39414180
22glycine metabolic process (GO:0006544)4.38859211
232-oxoglutarate metabolic process (GO:0006103)4.38682614
24alpha-linolenic acid metabolic process (GO:0036109)4.30280334
25drug transport (GO:0015893)4.20866620
26homocysteine metabolic process (GO:0050667)4.13534809
27regulation of cholesterol homeostasis (GO:2000188)4.02671597
28biotin metabolic process (GO:0006768)4.00395419
29bile acid biosynthetic process (GO:0006699)3.92373099
30NADH metabolic process (GO:0006734)3.90024525
31serine family amino acid biosynthetic process (GO:0009070)3.89989737
32valine metabolic process (GO:0006573)3.88050243
33drug catabolic process (GO:0042737)3.87678892
34short-chain fatty acid metabolic process (GO:0046459)3.87316533
35proteasome assembly (GO:0043248)3.81949717
36triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.81748908
37aromatic amino acid family metabolic process (GO:0009072)3.79965742
38aspartate family amino acid catabolic process (GO:0009068)3.79297969
39fatty acid beta-oxidation (GO:0006635)3.79068969
40alpha-amino acid catabolic process (GO:1901606)3.78291240
41cellular modified amino acid catabolic process (GO:0042219)3.75744145
42response to mercury ion (GO:0046689)3.74784346
43cellular ketone body metabolic process (GO:0046950)3.70828840
44protein carboxylation (GO:0018214)3.70474542
45peptidyl-glutamic acid carboxylation (GO:0017187)3.70474542
46tricarboxylic acid metabolic process (GO:0072350)3.68781288
47cellular amino acid catabolic process (GO:0009063)3.66874359
48exogenous drug catabolic process (GO:0042738)3.64077756
49fatty acid oxidation (GO:0019395)3.63075561
50branched-chain amino acid metabolic process (GO:0009081)3.60095352
51urea metabolic process (GO:0019627)3.58046216
52urea cycle (GO:0000050)3.58046216
53lipid oxidation (GO:0034440)3.57695850
54regulation of mitochondrial translation (GO:0070129)3.57450649
55fructose metabolic process (GO:0006000)3.55177319
56acetyl-CoA metabolic process (GO:0006084)3.54615468
57mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.53393324
58complement activation, alternative pathway (GO:0006957)3.51943030
59pantothenate metabolic process (GO:0015939)3.51537498
60carnitine metabolic process (GO:0009437)3.48205231
61negative regulation of fibrinolysis (GO:0051918)3.46854712
62ketone body metabolic process (GO:1902224)3.44451521
63plasma lipoprotein particle clearance (GO:0034381)3.42033498
64branched-chain amino acid catabolic process (GO:0009083)3.39828571
65fatty acid catabolic process (GO:0009062)3.39476291
66carboxylic acid catabolic process (GO:0046395)3.37356943
67organic acid catabolic process (GO:0016054)3.37356943
68bile acid metabolic process (GO:0008206)3.35735708
69negative regulation of cholesterol transport (GO:0032375)3.33692046
70negative regulation of sterol transport (GO:0032372)3.33692046
71positive regulation of triglyceride biosynthetic process (GO:0010867)3.32164628
72tyrosine metabolic process (GO:0006570)3.29064166
73quaternary ammonium group transport (GO:0015697)3.28807315
74monocarboxylic acid catabolic process (GO:0072329)3.28417028
75nitrogen cycle metabolic process (GO:0071941)3.27730214
76energy coupled proton transport, down electrochemical gradient (GO:0015985)3.27007024
77ATP synthesis coupled proton transport (GO:0015986)3.27007024
78regulation of protein activation cascade (GO:2000257)3.25489969
79glutamate metabolic process (GO:0006536)3.22596014
80vitamin transmembrane transport (GO:0035461)3.19510503
81folic acid metabolic process (GO:0046655)3.18818841
82ethanol oxidation (GO:0006069)3.17990234
83establishment of protein localization to mitochondrial membrane (GO:0090151)3.16348761
84folic acid transport (GO:0015884)3.16139684
85amine catabolic process (GO:0009310)3.16060660
86cellular biogenic amine catabolic process (GO:0042402)3.16060660
87aldehyde catabolic process (GO:0046185)3.15899565
88DNA replication checkpoint (GO:0000076)3.14961003
89protoporphyrinogen IX metabolic process (GO:0046501)3.14597402
90high-density lipoprotein particle remodeling (GO:0034375)3.14002638
91heme transport (GO:0015886)3.13359712
92sulfur amino acid metabolic process (GO:0000096)3.13133669
93positive regulation of triglyceride metabolic process (GO:0090208)3.12958407
94modified amino acid transport (GO:0072337)3.12470348
95low-density lipoprotein particle clearance (GO:0034383)3.11921168
96regulation of complement activation (GO:0030449)3.11472140
97chaperone-mediated protein transport (GO:0072321)3.07499461
98organic cation transport (GO:0015695)3.07464999
99regulation of cholesterol storage (GO:0010885)3.07273911
100protoporphyrinogen IX biosynthetic process (GO:0006782)3.07015429
101regulation of triglyceride catabolic process (GO:0010896)3.05872180
102dicarboxylic acid biosynthetic process (GO:0043650)3.05726066
103phosphate ion transport (GO:0006817)3.05367314
104chromatin remodeling at centromere (GO:0031055)3.03568822
105CENP-A containing nucleosome assembly (GO:0034080)3.03525438
106indolalkylamine metabolic process (GO:0006586)3.01022530
107NAD metabolic process (GO:0019674)2.98334691
108amino-acid betaine transport (GO:0015838)2.96966055
109carnitine transport (GO:0015879)2.96966055
110triglyceride homeostasis (GO:0070328)2.96608628
111acylglycerol homeostasis (GO:0055090)2.96608628
112benzene-containing compound metabolic process (GO:0042537)2.95499121
113cullin deneddylation (GO:0010388)2.94456528
114mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.93418128
115mitochondrial respiratory chain complex I assembly (GO:0032981)2.93418128
116NADH dehydrogenase complex assembly (GO:0010257)2.93418128
117DNA strand elongation involved in DNA replication (GO:0006271)2.91897331
118DNA strand elongation (GO:0022616)2.84755495
119protein targeting to mitochondrion (GO:0006626)2.83801836
120proline biosynthetic process (GO:0006561)2.81436732
121telomere maintenance via semi-conservative replication (GO:0032201)2.78929920
122protein deneddylation (GO:0000338)2.75038356
123porphyrin-containing compound biosynthetic process (GO:0006779)2.73292593
124peptidyl-arginine omega-N-methylation (GO:0035247)2.71076993
125mitochondrial respiratory chain complex assembly (GO:0033108)2.70342668
126peptidyl-histidine modification (GO:0018202)2.70173430
127mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.68565301
128protein-cofactor linkage (GO:0018065)2.68520160
129DNA damage response, detection of DNA damage (GO:0042769)2.68095289
130protein complex biogenesis (GO:0070271)2.67969883
131tetrapyrrole biosynthetic process (GO:0033014)2.65637289
132pseudouridine synthesis (GO:0001522)2.65449077
133protein neddylation (GO:0045116)2.65335398
134mitotic sister chromatid segregation (GO:0000070)2.65315045
135establishment of protein localization to mitochondrion (GO:0072655)2.63745197
136establishment of integrated proviral latency (GO:0075713)2.63285384
137maturation of SSU-rRNA (GO:0030490)2.62598427
138spliceosomal snRNP assembly (GO:0000387)2.61415356
139anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.61007568
140pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.60269052
141regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.58802897
142respiratory electron transport chain (GO:0022904)2.58362819
143pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.56909557
144ribosomal small subunit assembly (GO:0000028)2.56152532
145rRNA modification (GO:0000154)2.55700741
146regulation of translational fidelity (GO:0006450)2.55148525
147electron transport chain (GO:0022900)2.54047630
148protein localization to mitochondrion (GO:0070585)2.53047577
149oxidative phosphorylation (GO:0006119)2.52636432
150negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.50374844
151ventricular cardiac muscle cell development (GO:0055015)2.49482137
152DNA replication-independent nucleosome organization (GO:0034724)2.49199706
153DNA replication-independent nucleosome assembly (GO:0006336)2.49199706
154metallo-sulfur cluster assembly (GO:0031163)2.48757096
155iron-sulfur cluster assembly (GO:0016226)2.48757096
156DNA damage induced protein phosphorylation (GO:0006975)2.47948918
157ribosomal large subunit biogenesis (GO:0042273)2.46174433
158transcription elongation from RNA polymerase III promoter (GO:0006385)2.45944050
159termination of RNA polymerase III transcription (GO:0006386)2.45944050
160regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.45868167
161heme biosynthetic process (GO:0006783)2.43884136
162positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.42377257
163histone arginine methylation (GO:0034969)2.40819085
164mannosylation (GO:0097502)2.38311509
165histone exchange (GO:0043486)2.36778047
166kinetochore assembly (GO:0051382)2.35857297
167porphyrin-containing compound metabolic process (GO:0006778)2.33360931
168maturation of 5.8S rRNA (GO:0000460)2.32062751
169transcription-coupled nucleotide-excision repair (GO:0006283)2.31091406
170negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.28624613
171mitotic metaphase plate congression (GO:0007080)2.27133694
172cellular component biogenesis (GO:0044085)2.26229604
173mitotic nuclear envelope disassembly (GO:0007077)2.26020222
174peptidyl-arginine N-methylation (GO:0035246)2.25713379
175peptidyl-arginine methylation (GO:0018216)2.25713379
176DNA replication initiation (GO:0006270)2.25681581
177ribosome biogenesis (GO:0042254)2.25352685
178preassembly of GPI anchor in ER membrane (GO:0016254)2.25019827
179ribonucleoprotein complex biogenesis (GO:0022613)2.23813135
180negative regulation of ligase activity (GO:0051352)2.23718995
181negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.23718995
182nucleotide-excision repair, DNA gap filling (GO:0006297)2.21389736
183positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.21379300
184sister chromatid segregation (GO:0000819)2.20009465
185kinetochore organization (GO:0051383)2.19319381
186proline metabolic process (GO:0006560)2.18635488
187aerobic respiration (GO:0009060)2.18066948
188pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)2.17315551
189ribosomal small subunit biogenesis (GO:0042274)2.17136250
190protein localization to kinetochore (GO:0034501)2.16964589
191telomere maintenance via recombination (GO:0000722)2.16681177
192pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.16102064
193nucleoside transmembrane transport (GO:1901642)2.15769987
194tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.15199156
195RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.15199156
196regulation of spindle organization (GO:0090224)2.14846881
197rRNA processing (GO:0006364)2.14729362
198ribonucleoside triphosphate biosynthetic process (GO:0009201)2.14114091
199ubiquinone biosynthetic process (GO:0006744)2.13276218
200DNA strand renaturation (GO:0000733)2.13203034

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.90878426
2RXR_22158963_ChIP-Seq_LIVER_Mouse4.97474515
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.91457821
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.58874783
5E2F7_22180533_ChIP-Seq_HELA_Human4.37365448
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.72251347
7LXR_22158963_ChIP-Seq_LIVER_Mouse3.56986858
8HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.54577537
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.49765292
10JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.43262469
11THAP11_20581084_ChIP-Seq_MESCs_Mouse3.02499519
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.94020700
13* EST1_17652178_ChIP-ChIP_JURKAT_Human2.93493933
14FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.92995648
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.83671412
16GABP_17652178_ChIP-ChIP_JURKAT_Human2.82371856
17EGR1_23403033_ChIP-Seq_LIVER_Mouse2.81738076
18CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.78545677
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.76080276
20CREB1_15753290_ChIP-ChIP_HEK293T_Human2.67861392
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.52953062
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.51944119
23XRN2_22483619_ChIP-Seq_HELA_Human2.43061157
24MYC_19030024_ChIP-ChIP_MESCs_Mouse2.36054309
25CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.33245489
26CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.31024939
27HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.30418743
28FOXM1_23109430_ChIP-Seq_U2OS_Human2.27947712
29FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.22738213
30PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.22449653
31NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.20466568
32E2F4_17652178_ChIP-ChIP_JURKAT_Human2.13104565
33GABP_19822575_ChIP-Seq_HepG2_Human2.07942579
34NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.07840408
35DCP1A_22483619_ChIP-Seq_HELA_Human2.07181222
36MYC_19079543_ChIP-ChIP_MESCs_Mouse2.05259648
37E2F1_18555785_ChIP-Seq_MESCs_Mouse2.02043312
38* CCND1_20090754_ChIP-ChIP_RETINA_Mouse2.01872948
39RARG_19884340_ChIP-ChIP_MEFs_Mouse1.99606602
40TTF2_22483619_ChIP-Seq_HELA_Human1.98082051
41CLOCK_20551151_ChIP-Seq_293T_Human1.97319396
42YY1_21170310_ChIP-Seq_MESCs_Mouse1.97103377
43SRF_21415370_ChIP-Seq_HL-1_Mouse1.96194127
44EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.92779389
45IRF8_21731497_ChIP-ChIP_J774_Mouse1.89701123
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.88999291
47NELFA_20434984_ChIP-Seq_ESCs_Mouse1.87592351
48IRF8_22096565_ChIP-ChIP_GC-B_Human1.78934810
49NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.75644962
50FOXP3_21729870_ChIP-Seq_TREG_Human1.74504897
51NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.65524537
52ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.63633456
53IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.62255461
54ZNF263_19887448_ChIP-Seq_K562_Human1.58854389
55* LXR_22292898_ChIP-Seq_THP-1_Human1.53370941
56E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.53357865
57STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53196107
58KDM5A_27292631_Chip-Seq_BREAST_Human1.51648154
59STAT3_1855785_ChIP-Seq_MESCs_Mouse1.51112136
60MYC_22102868_ChIP-Seq_BL_Human1.48637376
61MYCN_18555785_ChIP-Seq_MESCs_Mouse1.48114217
62YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.47902373
63MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.47719047
64VDR_23849224_ChIP-Seq_CD4+_Human1.47376593
65VDR_21846776_ChIP-Seq_THP-1_Human1.46676066
66ELK3_25401928_ChIP-Seq_HUVEC_Human1.46046622
67NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.46037390
68PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45632171
69MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.45590020
70HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.45334548
71POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.45145019
72NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.44574743
73* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.43776065
74RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.39318286
75SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.36686359
76CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.34172000
77DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.32567152
78CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.31691941
79EZH2_22144423_ChIP-Seq_EOC_Human1.30651698
80RACK7_27058665_Chip-Seq_MCF-7_Human1.30572779
81ESR2_21235772_ChIP-Seq_MCF-7_Human1.30205992
82TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.29128710
83IRF8_27001747_Chip-Seq_BMDM_Mouse1.28878215
84FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.27622719
85BRD4_27068464_Chip-Seq_AML-cells_Mouse1.27575097
86MYB_21317192_ChIP-Seq_ERMYB_Mouse1.26878488
87TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26215877
88NANOG_18555785_ChIP-Seq_MESCs_Mouse1.26019158
89MYC_18940864_ChIP-ChIP_HL60_Human1.25781817
90KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.24316073
91DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.23162475
92ELK1_19687146_ChIP-ChIP_HELA_Human1.22177635
93ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.21446351
94FOXP1_21924763_ChIP-Seq_HESCs_Human1.18266637
95E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.17528893
96MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.16696286
97RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.16677292
98* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.12413914
99BCOR_27268052_Chip-Seq_Bcells_Human1.11424749
100CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.11215352
101* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.10902905
102SRY_22984422_ChIP-ChIP_TESTIS_Rat1.09599076
103ELF1_17652178_ChIP-ChIP_JURKAT_Human1.09445416
104CTCF_18555785_ChIP-Seq_MESCs_Mouse1.08379272
105MAF_26560356_Chip-Seq_TH1_Human1.06570433
106PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06458648
107BCL6_27268052_Chip-Seq_Bcells_Human1.06136553
108EGR1_19374776_ChIP-ChIP_THP-1_Human1.06079303
109GATA1_19941827_ChIP-Seq_MEL_Mouse1.05461914
110E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.05380069
111KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.05274195
112CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.05179320
113CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.05128851
114E2F1_21310950_ChIP-Seq_MCF-7_Human1.05096711
115SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.04546365
116PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.04146265
117SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.03639087
118TCF7_22412390_ChIP-Seq_EML_Mouse1.03523153
119AR_21909140_ChIP-Seq_LNCAP_Human1.02857381
120POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.02766392
121TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.02461521
122Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.02088926
123RBPJ_22232070_ChIP-Seq_NCS_Mouse1.01713432
124TBX5_21415370_ChIP-Seq_HL-1_Mouse1.01645220
125P68_20966046_ChIP-Seq_HELA_Human1.01387162
126ESR1_15608294_ChIP-ChIP_MCF-7_Human1.01296703
127SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.00877912
128POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.00570348
129ATF3_27146783_Chip-Seq_COLON_Human1.00095380
130CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99947098
131HOXB4_20404135_ChIP-ChIP_EML_Mouse0.99582195
132ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.99425601
133HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.99180128
134TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.98421073
135SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.98122241
136SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.96598581
137TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96511434
138GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.95653010
139ESR1_21235772_ChIP-Seq_MCF-7_Human0.95446273
140KDM2B_26808549_Chip-Seq_SUP-B15_Human0.95357387
141UTX_26944678_Chip-Seq_JUKART_Human0.94832770
142TET1_21451524_ChIP-Seq_MESCs_Mouse0.94723309
143RXRA_24833708_ChIP-Seq_LIVER_Mouse0.94652873
144KDM2B_26808549_Chip-Seq_DND41_Human0.93401070
145HNF4A_19822575_ChIP-Seq_HepG2_Human0.93358191
146CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.92725096
147NANOG_21062744_ChIP-ChIP_HESCs_Human0.91755519
148CIITA_25753668_ChIP-Seq_RAJI_Human0.91312927
149YY1_22570637_ChIP-Seq_MALME-3M_Human0.90645198
150SCL_19346495_ChIP-Seq_HPC-7_Human0.90592962
151SOX2_16153702_ChIP-ChIP_HESCs_Human0.90218709
152FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.89807824
153ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88905497
154KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.88666195
155VDR_24763502_ChIP-Seq_THP-1_Human0.88389393
156GATA1_19941826_ChIP-Seq_K562_Human0.88146674
157RUNX1_22412390_ChIP-Seq_EML_Mouse0.88126015
158CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.87022048
159CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.85561683
160ERG_21242973_ChIP-ChIP_JURKAT_Human0.85398578
161* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.85279878
162PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84238584
163* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.82726053
164PADI4_21655091_ChIP-ChIP_MCF-7_Human0.82162650
165PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.81843265
166SPI1_23547873_ChIP-Seq_NB4_Human0.81400762
167KLF4_18555785_ChIP-Seq_MESCs_Mouse0.81175290
168* ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.80541743
169P300_27058665_Chip-Seq_ZR-75-30cells_Human0.80502906
170SOX17_20123909_ChIP-Seq_XEN_Mouse0.80332202
171* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.80304101
172TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.80303621
173MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.80276525
174CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80047611
175BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.79952732
176ELF1_20517297_ChIP-Seq_JURKAT_Human0.79643607
177GATA1_22025678_ChIP-Seq_K562_Human0.79503694
178NANOG_16153702_ChIP-ChIP_HESCs_Human0.78576199
179MAF_26560356_Chip-Seq_TH2_Human0.78330708
180PHF8_20622854_ChIP-Seq_HELA_Human0.77624784
181P300_27268052_Chip-Seq_Bcells_Human0.77409470
182SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.77179332
183* CTCF_21964334_Chip-Seq_Bcells_Human0.77119413
184KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.76826187

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis5.71010327
2MP0002139_abnormal_hepatobiliary_system5.63992279
3MP0005365_abnormal_bile_salt4.18550854
4MP0009840_abnormal_foam_cell4.08727956
5MP0005085_abnormal_gallbladder_physiolo3.79891464
6MP0008875_abnormal_xenobiotic_pharmacok3.16446974
7MP0005332_abnormal_amino_acid3.02296781
8MP0003191_abnormal_cellular_cholesterol2.80011494
9MP0006292_abnormal_olfactory_placode2.60015503
10MP0003136_yellow_coat_color2.57076698
11* MP0005058_abnormal_lysosome_morphology2.57046620
12MP0003252_abnormal_bile_duct2.56532222
13MP0004019_abnormal_vitamin_homeostasis2.53619273
14MP0005083_abnormal_biliary_tract2.53532051
15MP0010329_abnormal_lipoprotein_level2.41326360
16MP0010030_abnormal_orbit_morphology2.33952269
17MP0003693_abnormal_embryo_hatching2.30654021
18MP0005171_absent_coat_pigmentation2.28756507
19MP0008058_abnormal_DNA_repair2.28122811
20MP0003111_abnormal_nucleus_morphology2.27121170
21MP0003806_abnormal_nucleotide_metabolis2.26326439
22MP0000372_irregular_coat_pigmentation2.09220759
23MP0003195_calcinosis2.09136205
24MP0010094_abnormal_chromosome_stability2.03895031
25MP0005451_abnormal_body_composition2.01058575
26MP0008932_abnormal_embryonic_tissue1.97747555
27MP0009643_abnormal_urine_homeostasis1.95562145
28MP0005319_abnormal_enzyme/_coenzyme1.93230409
29MP0001529_abnormal_vocalization1.92575195
30MP0000609_abnormal_liver_physiology1.89435869
31MP0008789_abnormal_olfactory_epithelium1.87314026
32MP0003646_muscle_fatigue1.82352878
33MP0004957_abnormal_blastocyst_morpholog1.80900845
34MP0005499_abnormal_olfactory_system1.80751723
35MP0005394_taste/olfaction_phenotype1.80751723
36MP0003077_abnormal_cell_cycle1.76374566
37MP0002138_abnormal_hepatobiliary_system1.72419628
38MP0002938_white_spotting1.71489757
39MP0008995_early_reproductive_senescence1.70918468
40MP0002118_abnormal_lipid_homeostasis1.62534817
41MP0003705_abnormal_hypodermis_morpholog1.57016394
42MP0003890_abnormal_embryonic-extraembry1.54593776
43MP0003186_abnormal_redox_activity1.53062994
44MP0004130_abnormal_muscle_cell1.48510678
45MP0001756_abnormal_urination1.48446102
46MP0003172_abnormal_lysosome_physiology1.48368181
47MP0009697_abnormal_copulation1.48354539
48MP0006082_CNS_inflammation1.48316954
49MP0005584_abnormal_enzyme/coenzyme_acti1.48190064
50MP0003567_abnormal_fetal_cardiomyocyte1.46652570
51MP0001666_abnormal_nutrient_absorption1.45841006
52MP0004133_heterotaxia1.45304203
53MP0003119_abnormal_digestive_system1.43807009
54MP0003315_abnormal_perineum_morphology1.41327882
55MP0006276_abnormal_autonomic_nervous1.39691307
56MP0001293_anophthalmia1.39270595
57MP0000566_synostosis1.38461868
58MP0005423_abnormal_somatic_nervous1.38329734
59MP0003122_maternal_imprinting1.38294303
60MP0003303_peritoneal_inflammation1.37926279
61MP0003656_abnormal_erythrocyte_physiolo1.36249488
62MP0008469_abnormal_protein_level1.30961198
63MP0002136_abnormal_kidney_physiology1.30919318
64MP0004043_abnormal_pH_regulation1.27317734
65MP0003880_abnormal_central_pattern1.26134559
66MP0008775_abnormal_heart_ventricle1.25555432
67MP0003786_premature_aging1.24403184
68MP0001764_abnormal_homeostasis1.24116659
69MP0003436_decreased_susceptibility_to1.23596451
70MP0003724_increased_susceptibility_to1.22991183
71MP0003937_abnormal_limbs/digits/tail_de1.20381443
72MP0005636_abnormal_mineral_homeostasis1.20159981
73MP0009278_abnormal_bone_marrow1.19901864
74MP0005670_abnormal_white_adipose1.19855455
75MP0005464_abnormal_platelet_physiology1.19684679
76MP0003283_abnormal_digestive_organ1.19634899
77* MP0000598_abnormal_liver_morphology1.17595714
78MP0003221_abnormal_cardiomyocyte_apopto1.15852410
79MP0008260_abnormal_autophagy1.15452172
80MP0000604_amyloidosis1.15222301
81MP0004145_abnormal_muscle_electrophysio1.15019822
82MP0000049_abnormal_middle_ear1.12769236
83MP0008877_abnormal_DNA_methylation1.11315946
84MP0001697_abnormal_embryo_size1.10532523
85MP0005377_hearing/vestibular/ear_phenot1.09472090
86MP0003878_abnormal_ear_physiology1.09472090
87MP0006036_abnormal_mitochondrial_physio1.09252538
88MP0005380_embryogenesis_phenotype1.08432392
89MP0001672_abnormal_embryogenesis/_devel1.08432392
90MP0005646_abnormal_pituitary_gland1.07766167
91MP0002084_abnormal_developmental_patter1.07574123
92MP0003942_abnormal_urinary_system1.07130571
93MP0004233_abnormal_muscle_weight1.07074144
94MP0001730_embryonic_growth_arrest1.06139914
95MP0008007_abnormal_cellular_replicative1.05879740
96MP0009764_decreased_sensitivity_to1.04696495
97MP0002653_abnormal_ependyma_morphology1.03981549
98MP0005167_abnormal_blood-brain_barrier1.02369104
99MP0005666_abnormal_adipose_tissue1.01672486
100MP0002234_abnormal_pharynx_morphology0.99632937
101MP0003011_delayed_dark_adaptation0.99337236
102MP0002233_abnormal_nose_morphology0.98914255
103MP0002419_abnormal_innate_immunity0.98574006
104MP0002210_abnormal_sex_determination0.98486935
105MP0004084_abnormal_cardiac_muscle0.98402429
106MP0000631_abnormal_neuroendocrine_gland0.98292343
107MP0003121_genomic_imprinting0.96362694
108MP0003385_abnormal_body_wall0.96039189
109MP0000343_altered_response_to0.95077250
110MP0003984_embryonic_growth_retardation0.94836559
111MP0009785_altered_susceptibility_to0.93628907
112MP0003300_gastrointestinal_ulcer0.92673271
113MP0005397_hematopoietic_system_phenotyp0.92667852
114MP0001545_abnormal_hematopoietic_system0.92667852
115MP0003075_altered_response_to0.92663538
116MP0002085_abnormal_embryonic_tissue0.92033303
117MP0001968_abnormal_touch/_nociception0.91826914
118MP0003123_paternal_imprinting0.91546676
119MP0002160_abnormal_reproductive_system0.91103426
120MP0000358_abnormal_cell_content/0.90479988
121MP0002102_abnormal_ear_morphology0.90405029
122MP0005330_cardiomyopathy0.88960323
123MP0000371_diluted_coat_color0.88856119
124MP0001986_abnormal_taste_sensitivity0.88626619
125MP0002088_abnormal_embryonic_growth/wei0.88583904
126MP0009763_increased_sensitivity_to0.88283412
127MP0004510_myositis0.86253178
128MP0005408_hypopigmentation0.86161075
129MP0001286_abnormal_eye_development0.85145119
130MP0005187_abnormal_penis_morphology0.84926110
131MP0004947_skin_inflammation0.84796046
132MP0000537_abnormal_urethra_morphology0.84754496
133MP0002080_prenatal_lethality0.84158186
134MP0009642_abnormal_blood_homeostasis0.83559022
135MP0004272_abnormal_basement_membrane0.82625351
136MP0002971_abnormal_brown_adipose0.82339456
137MP0001845_abnormal_inflammatory_respons0.82310474
138MP0005025_abnormal_response_to0.82215304
139MP0000750_abnormal_muscle_regeneration0.82004385
140MP0001929_abnormal_gametogenesis0.81745174
141MP0006072_abnormal_retinal_apoptosis0.79280737
142MP0000350_abnormal_cell_proliferation0.79224849
143MP0002697_abnormal_eye_size0.79126481
144MP0003861_abnormal_nervous_system0.77804894
145MP0001765_abnormal_ion_homeostasis0.76953494
146MP0003718_maternal_effect0.76736276
147MP0000778_abnormal_nervous_system0.76704362
148MP0002751_abnormal_autonomic_nervous0.76688606
149MP0000653_abnormal_sex_gland0.76495343
150MP0004142_abnormal_muscle_tone0.76488649
151MP0005551_abnormal_eye_electrophysiolog0.76400153
152MP0001835_abnormal_antigen_presentation0.74796184
153MP0003698_abnormal_male_reproductive0.74488822
154MP0000747_muscle_weakness0.74322600
155MP0004147_increased_porphyrin_level0.74076857
156MP0002269_muscular_atrophy0.73742488
157MP0002638_abnormal_pupillary_reflex0.73547448
158MP0001145_abnormal_male_reproductive0.72439245
159MP0002822_catalepsy0.72023732
160MP0009333_abnormal_splenocyte_physiolog0.71626014
161MP0001533_abnormal_skeleton_physiology0.71401114
162MP0010368_abnormal_lymphatic_system0.70033929
163MP0002111_abnormal_tail_morphology0.69932626
164MP0002089_abnormal_postnatal_growth/wei0.69448194
165MP0002163_abnormal_gland_morphology0.68468249
166MP0002135_abnormal_kidney_morphology0.67410669
167MP0000516_abnormal_urinary_system0.67177556
168MP0005367_renal/urinary_system_phenotyp0.67177556
169MP0002161_abnormal_fertility/fecundity0.67059129
170MP0002736_abnormal_nociception_after0.65794904
171MP0003329_amyloid_beta_deposits0.64654653
172MP0008961_abnormal_basal_metabolism0.64506992
173MP0005535_abnormal_body_temperature0.61615304
174MP0000685_abnormal_immune_system0.60933772
175MP0002837_dystrophic_cardiac_calcinosis0.60365543
176MP0003690_abnormal_glial_cell0.60301543
177MP0005166_decreased_susceptibility_to0.60096586
178MP0009115_abnormal_fat_cell0.59023579
179MP0005334_abnormal_fat_pad0.58602617
180MP0005395_other_phenotype0.58573649
181MP0003566_abnormal_cell_adhesion0.58475294
182MP0008873_increased_physiological_sensi0.57222455
183MP0004036_abnormal_muscle_relaxation0.56649801
184MP0001661_extended_life_span0.55995699
185MP0005376_homeostasis/metabolism_phenot0.54597606
186MP0001958_emphysema0.53838148
187MP0006035_abnormal_mitochondrial_morpho0.53734437
188* MP0000689_abnormal_spleen_morphology0.53680250

Predicted human phenotypes

RankGene SetZ-score
1Hyperglycinuria (HP:0003108)5.41394734
2Gout (HP:0001997)5.09002166
3Hyperglycinemia (HP:0002154)4.82075942
4Abnormality of serine family amino acid metabolism (HP:0010894)4.66223483
5Abnormality of glycine metabolism (HP:0010895)4.66223483
6Abnormality of aromatic amino acid family metabolism (HP:0004338)4.34738659
7Xanthomatosis (HP:0000991)4.13561691
8Deep venous thrombosis (HP:0002625)3.95678529
9Hyperammonemia (HP:0001987)3.86480446
10Abnormality of purine metabolism (HP:0004352)3.73750461
11Abnormality of glutamine family amino acid metabolism (HP:0010902)3.71833381
12Abnormality of fatty-acid metabolism (HP:0004359)3.68253306
13Abnormal number of erythroid precursors (HP:0012131)3.60248396
14Ketosis (HP:0001946)3.50788068
15Abnormality of the heme biosynthetic pathway (HP:0010472)3.46679901
16Complement deficiency (HP:0004431)3.45466746
17Abnormality of monocarboxylic acid metabolism (HP:0010996)3.38081257
18Systemic lupus erythematosus (HP:0002725)3.30601678
19Abnormality of cells of the erythroid lineage (HP:0012130)3.30533049
20Hyperuricemia (HP:0002149)3.29932520
21Increased purine levels (HP:0004368)3.29932520
22Intrahepatic cholestasis (HP:0001406)3.28746715
23Reticulocytosis (HP:0001923)3.26790984
24Hyperlipoproteinemia (HP:0010980)3.17965762
25Proximal tubulopathy (HP:0000114)3.16679412
26Abnormality of nucleobase metabolism (HP:0010932)3.15047064
27Increased serum pyruvate (HP:0003542)3.14979114
28Cholecystitis (HP:0001082)3.04686909
29Abnormal gallbladder physiology (HP:0012438)3.04686909
30Abnormality of glycolysis (HP:0004366)3.01662467
31Abnormality of reticulocytes (HP:0004312)2.98906842
32Abnormality of sulfur amino acid metabolism (HP:0004339)2.98785509
33Axonal loss (HP:0003447)2.98628135
34Abnormality of serum amino acid levels (HP:0003112)2.95603555
35Joint hemorrhage (HP:0005261)2.84834956
36Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.83118315
37Dicarboxylic aciduria (HP:0003215)2.80936813
38Abnormality of dicarboxylic acid metabolism (HP:0010995)2.80936813
39Generalized aminoaciduria (HP:0002909)2.80856565
40Nausea (HP:0002018)2.79732580
41Ketoacidosis (HP:0001993)2.78379097
42Abnormal mitochondria in muscle tissue (HP:0008316)2.77192479
43Abnormality of complement system (HP:0005339)2.77107874
44Vacuolated lymphocytes (HP:0001922)2.76734634
45Acute encephalopathy (HP:0006846)2.74923265
46Abnormality of alanine metabolism (HP:0010916)2.73986134
47Hyperalaninemia (HP:0003348)2.73986134
48Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.73986134
49Glomerulonephritis (HP:0000099)2.71898808
50Acute necrotizing encephalopathy (HP:0006965)2.67104386
51Abnormality of aspartate family amino acid metabolism (HP:0010899)2.65703533
52Increased cerebral lipofuscin (HP:0011813)2.63926919
53Hypobetalipoproteinemia (HP:0003563)2.61512117
54Hepatocellular necrosis (HP:0001404)2.58341959
55Prolonged partial thromboplastin time (HP:0003645)2.56194720
56Hepatic necrosis (HP:0002605)2.54822925
57Hypoalphalipoproteinemia (HP:0003233)2.54498307
58Dysostosis multiplex (HP:0000943)2.52103901
59Increased CSF lactate (HP:0002490)2.47351094
60Spastic diplegia (HP:0001264)2.47001007
61Lethargy (HP:0001254)2.45603568
62Recurrent gram-negative bacterial infections (HP:0005420)2.45333015
63Mitochondrial inheritance (HP:0001427)2.43306388
64Hypolipoproteinemia (HP:0010981)2.41827871
65Asymmetric septal hypertrophy (HP:0001670)2.40561932
66Reticulocytopenia (HP:0001896)2.40040321
67Increased serum lactate (HP:0002151)2.38444952
68Abnormality of the common coagulation pathway (HP:0010990)2.37749661
69Myocardial infarction (HP:0001658)2.36871469
70Poikilocytosis (HP:0004447)2.32229301
71Multiple enchondromatosis (HP:0005701)2.29503656
72Global brain atrophy (HP:0002283)2.28628046
73Polycythemia (HP:0001901)2.27892824
74Hypoglycemic coma (HP:0001325)2.27058397
75Abnormality of proline metabolism (HP:0010907)2.25747489
76Hydroxyprolinuria (HP:0003080)2.25747489
77Urinary glycosaminoglycan excretion (HP:0003541)2.24206108
78Mucopolysacchariduria (HP:0008155)2.24206108
79Microretrognathia (HP:0000308)2.24162163
80Rhabdomyolysis (HP:0003201)2.23893908
81Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.23309387
82Metabolic acidosis (HP:0001942)2.22719761
83Atrioventricular block (HP:0001678)2.21468586
84Delayed CNS myelination (HP:0002188)2.19162373
85Decreased activity of mitochondrial respiratory chain (HP:0008972)2.19142293
86Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.19142293
87Increased neuronal autofluorescent lipopigment (HP:0002074)2.17798810
88Irritability (HP:0000737)2.15104688
89Hepatocellular carcinoma (HP:0001402)2.14477053
90Abnormality of polysaccharide metabolism (HP:0011012)2.14196753
91Abnormality of glycosaminoglycan metabolism (HP:0004371)2.14196753
92Abnormality of mucopolysaccharide metabolism (HP:0011020)2.14196753
93Cholelithiasis (HP:0001081)2.13198301
94Cerebral hypomyelination (HP:0006808)2.13186862
95Vascular calcification (HP:0004934)2.12716488
96Birth length less than 3rd percentile (HP:0003561)2.10978998
97Alkalosis (HP:0001948)2.10287319
98Abnormal cartilage morphology (HP:0002763)2.10223039
99Sensorimotor neuropathy (HP:0007141)2.08986447
100Esophageal varix (HP:0002040)2.08441579
101Epidermoid cyst (HP:0200040)2.08127947
102Nephritis (HP:0000123)2.07768283
103Abnormal hemoglobin (HP:0011902)2.07611663
104Hypercholesterolemia (HP:0003124)2.07397570
105Microvesicular hepatic steatosis (HP:0001414)2.05005369
106Truncus arteriosus (HP:0001660)2.04863471
107Malnutrition (HP:0004395)2.03853904
108Increased serum ferritin (HP:0003281)2.02604898
109Vomiting (HP:0002013)2.02409079
110Abnormality of macrophages (HP:0004311)2.02377826
111Hypoplasia of the capital femoral epiphysis (HP:0003090)2.01084017
112Hypokalemic alkalosis (HP:0001949)2.01021271
113Autoimmune thrombocytopenia (HP:0001973)1.99532580
114Abnormal gallbladder morphology (HP:0012437)1.99358516
1153-Methylglutaconic aciduria (HP:0003535)1.98579863
116Abnormality of the intrinsic pathway (HP:0010989)1.98522100
117Fat malabsorption (HP:0002630)1.98510652
118Lactic acidosis (HP:0003128)1.98408965
119Abnormality of pyrimidine metabolism (HP:0004353)1.97640269
120Myoglobinuria (HP:0002913)1.96472392
121Abnormal lung lobation (HP:0002101)1.95714111
122Neonatal onset (HP:0003623)1.92851078
123Pustule (HP:0200039)1.92700546
124Nephrolithiasis (HP:0000787)1.92640533
125Increased intramyocellular lipid droplets (HP:0012240)1.92133230
126Absent epiphyses (HP:0010577)1.91202070
127Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.91202070
128Meckel diverticulum (HP:0002245)1.90589165
129Abnormality of urine glucose concentration (HP:0011016)1.90285237
130Glycosuria (HP:0003076)1.90285237
131Progressive macrocephaly (HP:0004481)1.90250989
132Abnormality of iron homeostasis (HP:0011031)1.88444126
133Abnormal urine output (HP:0012590)1.87982927
134Retinal dysplasia (HP:0007973)1.87359687
135Abnormal platelet function (HP:0011869)1.86716258
136Impaired platelet aggregation (HP:0003540)1.86716258
137Chondrocalcinosis (HP:0000934)1.86624363
138Cardiovascular calcification (HP:0011915)1.85761876
139Abnormality of the ileum (HP:0001549)1.84504832
140Abnormality of transition element cation homeostasis (HP:0011030)1.84242078
141Hyperbilirubinemia (HP:0002904)1.83955639
142Metabolic alkalosis (HP:0200114)1.82765448
143Abnormal enzyme/coenzyme activity (HP:0012379)1.82702702
144Pallor (HP:0000980)1.82215142
145Hypoplastic pelvis (HP:0008839)1.80091608
146Absent thumb (HP:0009777)1.79888191
147Abnormal number of incisors (HP:0011064)1.78967645
148Macrocytic anemia (HP:0001972)1.76852501
149Homocystinuria (HP:0002156)1.75184106
150Abnormality of homocysteine metabolism (HP:0010919)1.75184106
151Aplasia/Hypoplasia of the uvula (HP:0010293)1.74992867
152Pendular nystagmus (HP:0012043)1.74024691
153Increased hepatocellular lipid droplets (HP:0006565)1.73790779
154Methylmalonic aciduria (HP:0012120)1.73421328
155Anophthalmia (HP:0000528)1.72759725
156Cerebral edema (HP:0002181)1.72581486
157Renal Fanconi syndrome (HP:0001994)1.72330095
158Sclerocornea (HP:0000647)1.70379560
159Type I transferrin isoform profile (HP:0003642)1.70115925
160High anterior hairline (HP:0009890)1.69754421
161Abnormality of the aortic arch (HP:0012303)1.69239158
162Pancreatic islet-cell hyperplasia (HP:0004510)1.69084673
163Abnormality of the gallbladder (HP:0005264)1.68388655
164Ileus (HP:0002595)1.66763197
165Horseshoe kidney (HP:0000085)1.66290251
166Premature ovarian failure (HP:0008209)1.65643199
167Facial cleft (HP:0002006)1.64351641
168Methylmalonic acidemia (HP:0002912)1.64064212
169Gait imbalance (HP:0002141)1.62029927
170Congenital primary aphakia (HP:0007707)1.60540815
171Nonimmune hydrops fetalis (HP:0001790)1.60226531
172Ectopic kidney (HP:0000086)1.58500856
173Lipid accumulation in hepatocytes (HP:0006561)1.58412268
174Medial flaring of the eyebrow (HP:0010747)1.57925189
175Patellar aplasia (HP:0006443)1.57443522
176Exercise intolerance (HP:0003546)1.57383002
177Acanthocytosis (HP:0001927)1.56265156
178Increased muscle lipid content (HP:0009058)1.55943654
179Hypoplasia of the fovea (HP:0007750)1.50487788
180Aplasia/Hypoplasia of the fovea (HP:0008060)1.50487788
181Aganglionic megacolon (HP:0002251)1.50125449
182Paralysis (HP:0003470)1.49505031
183Duplicated collecting system (HP:0000081)1.49077954
184Chromosomal breakage induced by crosslinking agents (HP:0003221)1.48072752
185Abnormality of methionine metabolism (HP:0010901)1.47992718
186Triphalangeal thumb (HP:0001199)1.47677716
187Chromsome breakage (HP:0040012)1.47091363
188Abnormality of the fovea (HP:0000493)1.46871062
189Abnormal protein glycosylation (HP:0012346)1.45402961
190Abnormal glycosylation (HP:0012345)1.45402961
191Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.45402961
192Abnormal protein N-linked glycosylation (HP:0012347)1.45402961
193Abnormality of midbrain morphology (HP:0002418)1.45388302
194Molar tooth sign on MRI (HP:0002419)1.45388302
195Testicular atrophy (HP:0000029)1.45238316
196Nephrogenic diabetes insipidus (HP:0009806)1.44618616

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.06480087
2ERN13.75902454
3TRIB33.65242278
4PKN23.25157272
5VRK23.20916768
6SRPK12.82182652
7FGFR42.62820867
8NME12.58783750
9ZAK2.53436401
10WNK32.48009783
11NEK12.43433214
12EIF2AK12.34440168
13TTK2.21378678
14MAP2K32.10939782
15TYK22.08554713
16MST1R2.04849796
17PLK42.03115825
18PBK1.95870545
19CDC71.94928675
20TTN1.82972050
21PDK41.81624112
22PDK31.81624112
23STK161.81459855
24BUB11.75371206
25TBK11.72138738
26SIK11.71763563
27TLK11.69869681
28MAP4K11.69562256
29EEF2K1.67601693
30TGFBR21.67393972
31PLK31.64069140
32IRAK31.61863472
33TRIM281.55792297
34KIT1.54756806
35NME21.54230924
36WNK41.50976601
37LRRK21.48363517
38PINK11.46184634
39WEE11.45269368
40BCR1.39958115
41KDR1.39220796
42CSNK1G31.37266845
43PLK11.36818439
44PAK41.35731642
45VRK11.32053356
46DYRK21.30564564
47RIPK11.30417212
48CHEK21.24520065
49AURKA1.23227425
50OXSR11.22305132
51TIE11.21530253
52PDK21.18378522
53MAPK111.14716814
54CSNK1G11.14355231
55PTK61.14027825
56CSF1R1.13816400
57JAK21.11304657
58FLT31.10983384
59PHKG21.10770711
60PHKG11.10770711
61TSSK61.10172521
62CSNK1A1L1.09374645
63MAP4K21.09191756
64BMPR1B1.08803504
65CDK71.08312675
66TAOK31.06030711
67ABL21.05332702
68BRAF1.01831879
69CAMKK11.01789299
70ATR1.01192631
71JAK11.00942462
72BMX1.00762815
73DYRK31.00661579
74NUAK10.99510879
75MAP2K70.98374026
76CDK40.95896866
77ZAP700.95003292
78BLK0.94859900
79STK38L0.93418510
80AURKB0.92927800
81TAOK20.90476034
82STK380.90044838
83CSNK1G20.89148189
84RPS6KA40.87487208
85CDK80.86241576
86MAP3K60.85523123
87NTRK10.83212293
88CCNB10.83113590
89NEK20.82810584
90PRKAA10.79762649
91STK30.78562107
92JAK30.75961430
93EPHB10.75110359
94PRKAA20.72940775
95MAP3K110.72516736
96STK40.71995529
97MAPKAPK50.71754655
98ARAF0.71440661
99STK100.71044733
100PAK10.69354676
101KSR20.68926846
102ILK0.68874169
103MINK10.66317355
104PDPK10.65367063
105MAPK120.64628854
106MKNK10.64029830
107CHEK10.62467383
108RPS6KB20.61671683
109RPS6KA50.61254655
110NTRK30.60623187
111MAP3K50.60598258
112CAMK1D0.59541448
113IKBKE0.58945144
114MATK0.58767693
115CDK140.58480414
116ICK0.56993812
117CSK0.56880496
118TYRO30.56255671
119CDK11A0.55455364
120PIM10.55224501
121ATM0.54436446
122CDK10.54341262
123CDK180.54265278
124MET0.53902878
125CDK150.53678119
126MAP3K70.53585750
127CDK20.53175680
128AKT20.52039706
129MAPK130.51974138
130BRSK20.50849488
131CSNK2A10.50613272
132CLK10.50337031
133RIPK40.49764046
134MTOR0.49464605
135DYRK1B0.48628576
136LATS20.48325874
137MAP3K80.48266323
138MAP3K40.48129216
139ALK0.48121460
140TAOK10.48119290
141TESK20.48020601
142PDK10.48017605
143CDK60.47273569
144GRK60.46862039
145PAK60.46751143
146IKBKB0.46647647
147PIM20.46490184
148MAPK40.45086230
149CSNK1E0.44135523
150DAPK10.43455777
151PRKCG0.43241827
152ERBB20.42958644
153AKT30.42459121
154LATS10.42057136
155MAPKAPK30.41983127
156GSK3A0.40147768
157MAP3K130.39977015
158CDK190.39175240
159MAP3K30.38230457
160PDGFRA0.38151652
161CSNK2A20.38093361
162BTK0.37383846
163LMTK20.37379058
164EPHB20.37226091
165PRKCI0.36708872
166CAMKK20.35834016
167NTRK20.35437177
168DAPK30.34938635
169MAP2K60.34497986
170BRSK10.34133839
171MARK10.33504002
172ERBB40.32292998
173PLK20.30960319

Predicted pathways (KEGG)

RankGene SetZ-score
1Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006303.21236240
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.08733654
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.02811335
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.86432210
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.86392475
6DNA replication_Homo sapiens_hsa030302.77128924
7Fatty acid degradation_Homo sapiens_hsa000712.68444097
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.61703187
9Mismatch repair_Homo sapiens_hsa034302.59028964
10Ribosome_Homo sapiens_hsa030102.56896520
11Proteasome_Homo sapiens_hsa030502.55690265
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.50177315
13Arginine biosynthesis_Homo sapiens_hsa002202.42137490
14Butanoate metabolism_Homo sapiens_hsa006502.39668673
15Vitamin B6 metabolism_Homo sapiens_hsa007502.35879055
16Pentose and glucuronate interconversions_Homo sapiens_hsa000402.30770559
17Nitrogen metabolism_Homo sapiens_hsa009102.29351724
18Folate biosynthesis_Homo sapiens_hsa007902.29285053
19Oxidative phosphorylation_Homo sapiens_hsa001902.29256887
20Propanoate metabolism_Homo sapiens_hsa006402.24915059
21RNA polymerase_Homo sapiens_hsa030202.20768293
22Parkinsons disease_Homo sapiens_hsa050122.17622501
23Staphylococcus aureus infection_Homo sapiens_hsa051502.11608865
24Base excision repair_Homo sapiens_hsa034102.10097666
25Tryptophan metabolism_Homo sapiens_hsa003802.08646843
26Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.06986654
27Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.05219537
28Homologous recombination_Homo sapiens_hsa034402.02661607
29Sulfur relay system_Homo sapiens_hsa041222.02351289
30Peroxisome_Homo sapiens_hsa041461.99847553
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.96958550
32* Fatty acid metabolism_Homo sapiens_hsa012121.95628209
33Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.94585116
34Carbon metabolism_Homo sapiens_hsa012001.93216620
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.86898450
36Complement and coagulation cascades_Homo sapiens_hsa046101.84067935
37Biosynthesis of amino acids_Homo sapiens_hsa012301.76186287
38PPAR signaling pathway_Homo sapiens_hsa033201.75515323
39beta-Alanine metabolism_Homo sapiens_hsa004101.69593379
40Huntingtons disease_Homo sapiens_hsa050161.69392695
41Spliceosome_Homo sapiens_hsa030401.69073065
42Nucleotide excision repair_Homo sapiens_hsa034201.68965133
43RNA transport_Homo sapiens_hsa030131.68395008
44Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.65520195
45Pentose phosphate pathway_Homo sapiens_hsa000301.64440183
46Basal transcription factors_Homo sapiens_hsa030221.64074447
47Fanconi anemia pathway_Homo sapiens_hsa034601.63906314
48Drug metabolism - other enzymes_Homo sapiens_hsa009831.61689347
49Pyrimidine metabolism_Homo sapiens_hsa002401.58207818
50Cyanoamino acid metabolism_Homo sapiens_hsa004601.58177062
51Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.56051521
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.56003411
53Pyruvate metabolism_Homo sapiens_hsa006201.50466746
54Cysteine and methionine metabolism_Homo sapiens_hsa002701.46423348
55Non-homologous end-joining_Homo sapiens_hsa034501.45887383
56Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.44408740
57Cell cycle_Homo sapiens_hsa041101.40447304
58Selenocompound metabolism_Homo sapiens_hsa004501.36498801
59Vitamin digestion and absorption_Homo sapiens_hsa049771.35703105
60Bile secretion_Homo sapiens_hsa049761.35281702
61Caffeine metabolism_Homo sapiens_hsa002321.35172599
62Alzheimers disease_Homo sapiens_hsa050101.26211176
63Starch and sucrose metabolism_Homo sapiens_hsa005001.22451672
64Purine metabolism_Homo sapiens_hsa002301.20414775
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.19515574
66RNA degradation_Homo sapiens_hsa030181.13367150
67Arginine and proline metabolism_Homo sapiens_hsa003301.12610753
68Cardiac muscle contraction_Homo sapiens_hsa042601.10797167
69Protein export_Homo sapiens_hsa030601.08485341
70Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.04200811
71* Lysosome_Homo sapiens_hsa041421.02795307
72Glycosaminoglycan degradation_Homo sapiens_hsa005311.00530881
73Fructose and mannose metabolism_Homo sapiens_hsa000510.99282901
74Chemical carcinogenesis_Homo sapiens_hsa052040.98508325
75mRNA surveillance pathway_Homo sapiens_hsa030150.97902748
76Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.96663611
77Histidine metabolism_Homo sapiens_hsa003400.96413689
78Glycerolipid metabolism_Homo sapiens_hsa005610.95880821
79Lysine degradation_Homo sapiens_hsa003100.95697460
80Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.95591961
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.95551981
82Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.94450410
83N-Glycan biosynthesis_Homo sapiens_hsa005100.93755823
84Steroid hormone biosynthesis_Homo sapiens_hsa001400.89489401
85Phenylalanine metabolism_Homo sapiens_hsa003600.85583857
86Other glycan degradation_Homo sapiens_hsa005110.85581523
87Retinol metabolism_Homo sapiens_hsa008300.84186879
88ABC transporters_Homo sapiens_hsa020100.78108941
89Glutathione metabolism_Homo sapiens_hsa004800.77878268
90Oocyte meiosis_Homo sapiens_hsa041140.73509031
91Regulation of autophagy_Homo sapiens_hsa041400.69178809
92Fat digestion and absorption_Homo sapiens_hsa049750.67364508
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.63471202
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.59359293
95Steroid biosynthesis_Homo sapiens_hsa001000.59204371
96Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.58985185
97Tyrosine metabolism_Homo sapiens_hsa003500.58181572
98Basal cell carcinoma_Homo sapiens_hsa052170.57678473
99Galactose metabolism_Homo sapiens_hsa000520.57601192
100Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.55203779
101Maturity onset diabetes of the young_Homo sapiens_hsa049500.53784835
102Glycerophospholipid metabolism_Homo sapiens_hsa005640.53584196
103Fatty acid biosynthesis_Homo sapiens_hsa000610.53573788
104Hippo signaling pathway_Homo sapiens_hsa043900.52424195
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.50989645
106Sulfur metabolism_Homo sapiens_hsa009200.49606899
107Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.49325776
108Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.48546599
109Phototransduction_Homo sapiens_hsa047440.48106558
110Insulin resistance_Homo sapiens_hsa049310.47053054
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46736328
112* Metabolic pathways_Homo sapiens_hsa011000.44207099
113Hedgehog signaling pathway_Homo sapiens_hsa043400.44095298
114* Fatty acid elongation_Homo sapiens_hsa000620.41920196
115Legionellosis_Homo sapiens_hsa051340.41390428
116p53 signaling pathway_Homo sapiens_hsa041150.41190567
117Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.40889629
118Leishmaniasis_Homo sapiens_hsa051400.39992036
119Collecting duct acid secretion_Homo sapiens_hsa049660.39056983
120TGF-beta signaling pathway_Homo sapiens_hsa043500.37227861
121Nicotine addiction_Homo sapiens_hsa050330.36614658
122Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.36533691
123Synaptic vesicle cycle_Homo sapiens_hsa047210.34953231
124Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.34665731
125Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.33002016
126One carbon pool by folate_Homo sapiens_hsa006700.31855429
127Prion diseases_Homo sapiens_hsa050200.28842787
128Wnt signaling pathway_Homo sapiens_hsa043100.27653995
129alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26402450
130Olfactory transduction_Homo sapiens_hsa047400.26113364
131Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.26028020
132Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.24918157
133Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.23106918
134GABAergic synapse_Homo sapiens_hsa047270.22136614
135SNARE interactions in vesicular transport_Homo sapiens_hsa041300.20754265
136Renin-angiotensin system_Homo sapiens_hsa046140.20329600
137Antigen processing and presentation_Homo sapiens_hsa046120.18809807
138AMPK signaling pathway_Homo sapiens_hsa041520.18390134
139Malaria_Homo sapiens_hsa051440.17903837
140Toll-like receptor signaling pathway_Homo sapiens_hsa046200.17734455
141Tuberculosis_Homo sapiens_hsa051520.16195324
142Osteoclast differentiation_Homo sapiens_hsa043800.15870265
143Mineral absorption_Homo sapiens_hsa049780.15066874
144mTOR signaling pathway_Homo sapiens_hsa041500.12162352
145Pertussis_Homo sapiens_hsa051330.11662474
146Central carbon metabolism in cancer_Homo sapiens_hsa052300.09726218
147Longevity regulating pathway - mammal_Homo sapiens_hsa042110.06429341
148HIF-1 signaling pathway_Homo sapiens_hsa040660.06331453
149Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.04696644
150Insulin signaling pathway_Homo sapiens_hsa049100.03342125
151RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.00546030
152Hepatitis C_Homo sapiens_hsa05160-0.0150076
153Influenza A_Homo sapiens_hsa05164-0.0085220
154Amoebiasis_Homo sapiens_hsa05146-0.0063656

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