FBP2

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 gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of relaxation of muscle (GO:1901077)8.13151364
2response to muscle activity (GO:0014850)7.94389235
3actin filament-based movement (GO:0030048)7.90216295
4myofibril assembly (GO:0030239)7.56223662
5creatine metabolic process (GO:0006600)7.54265757
6striated muscle contraction (GO:0006941)7.48613158
7skeletal muscle fiber development (GO:0048741)6.94735914
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.93825166
9sarcomere organization (GO:0045214)6.83773126
10response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.83342310
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.29207471
12myotube cell development (GO:0014904)6.26839864
13plasma membrane repair (GO:0001778)6.13728181
14response to inactivity (GO:0014854)6.08485376
15proteasome assembly (GO:0043248)6.01102502
16glycogen catabolic process (GO:0005980)6.00342843
17skeletal muscle adaptation (GO:0043501)5.96153356
18muscle contraction (GO:0006936)5.88249459
19glucan catabolic process (GO:0009251)5.64893443
20intestinal epithelial cell development (GO:0060576)5.55993049
21purine nucleobase biosynthetic process (GO:0009113)5.53455624
22cardiac myofibril assembly (GO:0055003)5.41785677
23glucan biosynthetic process (GO:0009250)5.31912973
24glycogen biosynthetic process (GO:0005978)5.31912973
25cellular polysaccharide catabolic process (GO:0044247)5.29367719
26muscle system process (GO:0003012)5.24600765
27actomyosin structure organization (GO:0031032)5.19636509
28muscle fiber development (GO:0048747)5.17589514
29folic acid metabolic process (GO:0046655)5.16816059
30cardiac muscle contraction (GO:0060048)5.15777222
31ribosome assembly (GO:0042255)5.13148574
32regulation of cell communication by electrical coupling (GO:0010649)4.92204014
33nucleobase biosynthetic process (GO:0046112)4.88067362
34muscle cell cellular homeostasis (GO:0046716)4.84580373
35negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.84345673
36positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.84016428
37regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.84006752
38skeletal muscle tissue development (GO:0007519)4.82765318
39regulation of cellular amino acid metabolic process (GO:0006521)4.77789062
40polysaccharide catabolic process (GO:0000272)4.77258601
41anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.70387660
42regulation of actin filament-based movement (GO:1903115)4.68847600
43folic acid transport (GO:0015884)4.67663613
44regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.66457670
45skeletal muscle tissue regeneration (GO:0043403)4.65439034
46interferon-gamma secretion (GO:0072643)4.64021560
47negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.56997635
48striated muscle adaptation (GO:0014888)4.52279869
49cardiac muscle hypertrophy (GO:0003300)4.51662981
50DNA deamination (GO:0045006)4.49083760
51regulation of mitochondrial translation (GO:0070129)4.43969689
52negative regulation of ligase activity (GO:0051352)4.34860988
53negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.34860988
54glycogen metabolic process (GO:0005977)4.33241099
55striated muscle hypertrophy (GO:0014897)4.30874960
56ribosomal large subunit biogenesis (GO:0042273)4.29831793
57positive regulation of ubiquitin-protein transferase activity (GO:0051443)4.25293515
58cellular glucan metabolic process (GO:0006073)4.24800485
59glucan metabolic process (GO:0044042)4.24800485
60response to activity (GO:0014823)4.21927002
612-oxoglutarate metabolic process (GO:0006103)4.20495407
62formation of translation preinitiation complex (GO:0001731)4.18623768
63signal transduction involved in DNA integrity checkpoint (GO:0072401)4.15900807
64signal transduction involved in DNA damage checkpoint (GO:0072422)4.15900807
65muscle organ morphogenesis (GO:0048644)4.14793068
66GDP-mannose metabolic process (GO:0019673)4.12973025
67rRNA modification (GO:0000154)4.10470884
68signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)4.09692848
69signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)4.09692848
70signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)4.09692848
71signal transduction involved in cell cycle checkpoint (GO:0072395)4.08686485
72regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.08025026
73DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.07754291
74mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.06827084
75muscle cell fate commitment (GO:0042693)4.02597562
76muscle structure development (GO:0061061)4.00832837
77intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.99513208
78signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.99513208
79muscle organ development (GO:0007517)3.98741335
80neuronal action potential propagation (GO:0019227)3.98638478
81positive regulation of ligase activity (GO:0051351)3.98569247
82negative regulation of potassium ion transmembrane transport (GO:1901380)3.95540675
83striated muscle cell development (GO:0055002)3.93126631
84L-methionine salvage (GO:0071267)3.92340797
85L-methionine biosynthetic process (GO:0071265)3.92340797
86amino acid salvage (GO:0043102)3.92340797
87maturation of SSU-rRNA (GO:0030490)3.89345016
88NADH metabolic process (GO:0006734)3.85876857
89positive regulation of myotube differentiation (GO:0010831)3.83479051
90muscle hypertrophy (GO:0014896)3.82265683
91tricarboxylic acid cycle (GO:0006099)3.79812583
92blastocyst development (GO:0001824)3.79074736
93striated muscle atrophy (GO:0014891)3.78436252
94IMP metabolic process (GO:0046040)3.77233676
95regulation of striated muscle contraction (GO:0006942)3.76367455
96positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.73356327
97adult heart development (GO:0007512)3.71155003
98positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.69154905
99* gluconeogenesis (GO:0006094)3.68852589
100amino sugar catabolic process (GO:0046348)3.68265268
101myoblast fusion (GO:0007520)3.66936127
102establishment of protein localization to mitochondrial membrane (GO:0090151)3.66788687
103muscle adaptation (GO:0043500)3.65114055
104regulation of ubiquitin-protein transferase activity (GO:0051438)3.64936827
105muscle tissue morphogenesis (GO:0060415)3.64103988
106ubiquinone biosynthetic process (GO:0006744)3.62973998
107negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.58840025
108negative regulation of calcium ion transmembrane transport (GO:1903170)3.58840025
109antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.56558353
110regulation of calcium ion transmembrane transport (GO:1903169)3.55543059
111regulation of calcium ion transmembrane transporter activity (GO:1901019)3.55543059
112AMP metabolic process (GO:0046033)3.55387999
113ATP synthesis coupled proton transport (GO:0015986)3.53119290
114energy coupled proton transport, down electrochemical gradient (GO:0015985)3.53119290
115neuromuscular synaptic transmission (GO:0007274)3.51817248
116ribosome biogenesis (GO:0042254)3.51576720
117ribonucleoprotein complex biogenesis (GO:0022613)3.51515060
118carnitine shuttle (GO:0006853)3.48900451
119mitotic metaphase plate congression (GO:0007080)3.48616576
120regulation of translation in response to stress (GO:0043555)3.47101099
121muscle atrophy (GO:0014889)3.47039965
122regulation of myoblast differentiation (GO:0045661)3.46898602
123lung-associated mesenchyme development (GO:0060484)3.46395285
124regulation of ligase activity (GO:0051340)3.45093424
125regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.44201165
126cellular carbohydrate catabolic process (GO:0044275)3.43370284
127cardiac muscle cell development (GO:0055013)3.43338639
128nucleoside diphosphate biosynthetic process (GO:0009133)3.42570437
129regulation of cellular amine metabolic process (GO:0033238)3.42300645
130negative regulation of muscle contraction (GO:0045932)3.41865129
131positive regulation of cell cycle arrest (GO:0071158)3.41839892
132cardiac muscle tissue morphogenesis (GO:0055008)3.40066428
133muscle cell development (GO:0055001)3.38829317
134cardiac muscle adaptation (GO:0014887)3.37798332
135cardiac muscle hypertrophy in response to stress (GO:0014898)3.37798332
136muscle hypertrophy in response to stress (GO:0003299)3.37798332
137DNA damage response, detection of DNA damage (GO:0042769)3.37220017
138termination of RNA polymerase III transcription (GO:0006386)3.35840481
139transcription elongation from RNA polymerase III promoter (GO:0006385)3.35840481
140antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.33307780
141modified amino acid transport (GO:0072337)3.33123814
142myotube differentiation (GO:0014902)3.33032368
143ADP metabolic process (GO:0046031)3.30377073
144N-acetylneuraminate metabolic process (GO:0006054)3.30043102
145* hexose biosynthetic process (GO:0019319)3.29431762
146nucleobase-containing small molecule interconversion (GO:0015949)3.28316091
147ubiquinone metabolic process (GO:0006743)3.26153467
148striated muscle tissue development (GO:0014706)3.25428639
149relaxation of muscle (GO:0090075)3.23964274
150DNA replication checkpoint (GO:0000076)3.23843885
151regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.20699977
152regulation of skeletal muscle cell differentiation (GO:2001014)3.20655275
153translational initiation (GO:0006413)3.20085646
154nucleotide-sugar biosynthetic process (GO:0009226)3.20004032
155succinate metabolic process (GO:0006105)3.19521108
156methionine biosynthetic process (GO:0009086)3.18968854
157cardiac cell development (GO:0055006)3.18504155
158galactose catabolic process (GO:0019388)3.18126820
159termination of RNA polymerase I transcription (GO:0006363)3.18081090
160syncytium formation by plasma membrane fusion (GO:0000768)3.17858671
161regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.17367457
162transcription from RNA polymerase I promoter (GO:0006360)3.15548720
163labyrinthine layer development (GO:0060711)3.15064998
164transcription elongation from RNA polymerase I promoter (GO:0006362)3.14978866
165translation (GO:0006412)3.14700707
1667-methylguanosine mRNA capping (GO:0006370)3.13918837
167ribosomal small subunit biogenesis (GO:0042274)3.13753899
168L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.10275583
169DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.06461070
170rRNA processing (GO:0006364)3.05450450
171sulfur amino acid biosynthetic process (GO:0000097)3.05079728
172cell cycle G1/S phase transition (GO:0044843)3.03221105
173G1/S transition of mitotic cell cycle (GO:0000082)3.03221105
174CDP-diacylglycerol metabolic process (GO:0046341)3.02865094
175negative regulation of translational initiation (GO:0045947)3.00659778
176establishment of protein localization to mitochondrion (GO:0072655)2.99561720
177cellular component biogenesis (GO:0044085)2.99265590
178methionine metabolic process (GO:0006555)2.99007656
179RNA capping (GO:0036260)2.98058804
1807-methylguanosine RNA capping (GO:0009452)2.98058804
181rRNA metabolic process (GO:0016072)2.97413435
182negative regulation of protein ubiquitination (GO:0031397)2.90294526
183protein localization to mitochondrion (GO:0070585)2.88950744
184regulation of spindle organization (GO:0090224)2.87744332
185protein targeting to mitochondrion (GO:0006626)2.86983206
186oxidative phosphorylation (GO:0006119)2.86615439
187keratinocyte development (GO:0003334)2.84604798
188translational termination (GO:0006415)2.84224322
189chaperone-mediated protein complex assembly (GO:0051131)2.84202421
190viral transcription (GO:0019083)2.81351366
191signal transduction in response to DNA damage (GO:0042770)2.79098499
192transcription initiation from RNA polymerase I promoter (GO:0006361)2.78616936
193pseudouridine synthesis (GO:0001522)2.77334661
194actin-myosin filament sliding (GO:0033275)12.9625313
195muscle filament sliding (GO:0030049)12.9625313
196sarcoplasmic reticulum calcium ion transport (GO:0070296)11.4998837
197actin-mediated cell contraction (GO:0070252)10.6610446
198skeletal muscle contraction (GO:0003009)10.5715073
199regulation of skeletal muscle contraction (GO:0014819)10.3352345

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.82937687
2EZH2_22144423_ChIP-Seq_EOC_Human5.58184813
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.75606952
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.29515833
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.80122548
6ETS1_20019798_ChIP-Seq_JURKAT_Human3.67373360
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.59919396
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.58047276
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.56323479
10E2F7_22180533_ChIP-Seq_HELA_Human3.54089192
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.44838151
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.37851269
13PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.35650102
14EST1_17652178_ChIP-ChIP_JURKAT_Human3.30542596
15GABP_17652178_ChIP-ChIP_JURKAT_Human3.24962191
16ESR1_20079471_ChIP-ChIP_T-47D_Human3.13242095
17RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.92889018
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.87977313
19* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.80224303
20CDX2_19796622_ChIP-Seq_MESCs_Mouse2.74270060
21TBX20_22328084_ChIP-Seq_HEART_Mouse2.68794509
22TBX20_22080862_ChIP-Seq_HEART_Mouse2.68794509
23TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.61205866
24MYC_19030024_ChIP-ChIP_MESCs_Mouse2.59248455
25NANOG_18555785_ChIP-Seq_MESCs_Mouse2.37367510
26CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.30341624
27* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse2.29177058
28VDR_23849224_ChIP-Seq_CD4+_Human2.26630126
29AR_21909140_ChIP-Seq_LNCAP_Human2.25491782
30YY1_21170310_ChIP-Seq_MESCs_Mouse2.25271247
31ZNF263_19887448_ChIP-Seq_K562_Human2.23468831
32CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.21522835
33MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.17190639
34IGF1R_20145208_ChIP-Seq_DFB_Human2.15922732
35POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.13721048
36E2F1_18555785_ChIP-Seq_MESCs_Mouse2.12036405
37TP63_17297297_ChIP-ChIP_HaCaT_Human2.10918568
38FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.08726646
39EP300_21415370_ChIP-Seq_HL-1_Mouse2.08156849
40FOXM1_23109430_ChIP-Seq_U2OS_Human2.04418543
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.00453489
42NELFA_20434984_ChIP-Seq_ESCs_Mouse1.99882993
43E2F4_17652178_ChIP-ChIP_JURKAT_Human1.99442566
44XRN2_22483619_ChIP-Seq_HELA_Human1.98842751
45HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.96969339
46MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.96761036
47DCP1A_22483619_ChIP-Seq_HELA_Human1.95566249
48CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.92051609
49POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.91821474
50RBPJ_22232070_ChIP-Seq_NCS_Mouse1.91821464
51NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.82660123
52GABP_19822575_ChIP-Seq_HepG2_Human1.79935930
53HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.75232522
54THAP11_20581084_ChIP-Seq_MESCs_Mouse1.70593804
55STAT3_1855785_ChIP-Seq_MESCs_Mouse1.70427050
56GATA4_21415370_ChIP-Seq_HL-1_Mouse1.69934252
57KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.69239817
58SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.68383280
59NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.68086713
60NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.67688192
61EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.64898678
62FOXP3_21729870_ChIP-Seq_TREG_Human1.64431844
63AR_21572438_ChIP-Seq_LNCaP_Human1.58617129
64SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.58462121
65THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.56871780
66TTF2_22483619_ChIP-Seq_HELA_Human1.54146039
67CTCF_27219007_Chip-Seq_Bcells_Human1.52947038
68SRF_21415370_ChIP-Seq_HL-1_Mouse1.49897136
69HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.48827461
70MYCN_18555785_ChIP-Seq_MESCs_Mouse1.46968931
71NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.44886618
72TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.44271430
73MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.42929808
74PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.42353514
75POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.42137979
76SRY_22984422_ChIP-ChIP_TESTIS_Rat1.41732885
77ELK1_22589737_ChIP-Seq_MCF10A_Human1.39742749
78KDM5A_27292631_Chip-Seq_BREAST_Human1.39676692
79TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.38833416
80ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.37083409
81TCF3_18692474_ChIP-Seq_MEFs_Mouse1.36901706
82PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.36428755
83CBX2_27304074_Chip-Seq_ESCs_Mouse1.34653317
84OCT4_18692474_ChIP-Seq_MEFs_Mouse1.34492415
85ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.33237404
86KLF4_18555785_ChIP-Seq_MESCs_Mouse1.30959244
87PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.30685661
88NFIB_24661679_ChIP-Seq_LUNG_Mouse1.30239782
89ELF1_17652178_ChIP-ChIP_JURKAT_Human1.30144835
90YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.29165161
91NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.28837789
92CIITA_25753668_ChIP-Seq_RAJI_Human1.27106984
93SOX2_18692474_ChIP-Seq_MEFs_Mouse1.24981105
94BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.24584503
95DROSHA_22980978_ChIP-Seq_HELA_Human1.23543199
96ESR2_21235772_ChIP-Seq_MCF-7_Human1.21502609
97EZH2_27294783_Chip-Seq_ESCs_Mouse1.20256114
98TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.19179639
99SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.18910316
100NANOG_18692474_ChIP-Seq_MEFs_Mouse1.18392172
101OCT4_20526341_ChIP-Seq_ESCs_Human1.18070863
102RARB_27405468_Chip-Seq_BRAIN_Mouse1.14187000
103GBX2_23144817_ChIP-Seq_PC3_Human1.13750430
104ZFX_18555785_ChIP-Seq_MESCs_Mouse1.13060330
105FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.12459796
106ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.09889215
107EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.09192173
108ELK1_19687146_ChIP-ChIP_HELA_Human1.08480610
109P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07298905
110CTCF_21964334_ChIP-Seq_BJAB-B_Human1.06308942
111SPI1_20517297_ChIP-Seq_HL60_Human1.03814963
112CRX_20693478_ChIP-Seq_RETINA_Mouse1.03622782
113ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.02923044
114SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.02805188
115STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.02057839
116KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.01348276
117LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.00873023
118HTT_18923047_ChIP-ChIP_STHdh_Human1.00858400
119SA1_27219007_Chip-Seq_Bcells_Human1.00441493
120SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.00301066
121PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00206787
122KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00044914
123CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.99814195
124SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99759354
125ER_23166858_ChIP-Seq_MCF-7_Human0.98565650
126NANOG_21062744_ChIP-ChIP_HESCs_Human0.98529830
127ATF3_27146783_Chip-Seq_COLON_Human0.98449320
128GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.98128441
129SOX17_20123909_ChIP-Seq_XEN_Mouse0.97938775
130KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.97013742
131KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.97013742
132KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.97013742
133RARG_19884340_ChIP-ChIP_MEFs_Mouse0.96693498
134DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.96591619
135NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.96191186
136TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.95987523
137SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95550149
138BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.95109488
139POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.94636387
140TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.94632360
141* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.94509467
142PADI4_21655091_ChIP-ChIP_MCF-7_Human0.93074644
143EZH2_27294783_Chip-Seq_NPCs_Mouse0.92855937
144SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.92411896
145KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.92256071
146E2F1_21310950_ChIP-Seq_MCF-7_Human0.91148570
147SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.90751727
148GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.90666966
149KAP1_22055183_ChIP-Seq_ESCs_Mouse0.90516612
150* HOXB4_20404135_ChIP-ChIP_EML_Mouse0.89674701
151FLI1_27457419_Chip-Seq_LIVER_Mouse0.88826935
152VDR_22108803_ChIP-Seq_LS180_Human0.88696147
153OCT4_21477851_ChIP-Seq_ESCs_Mouse0.88298811
154CTCF_21964334_Chip-Seq_Bcells_Human0.88006288
155EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.87738550
156STAT1_20625510_ChIP-Seq_HELA_Human0.87506908
157* MYC_27129775_Chip-Seq_CORNEA_Mouse0.87322325
158CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.87006214
159MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.86947471
160CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.85913641
161CBP_20019798_ChIP-Seq_JUKART_Human0.85145963
162IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.85145963
163HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.84764504
164CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.84526756
165SOX2_21211035_ChIP-Seq_LN229_Gbm0.84067299
166STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.83677014
167NANOG_20526341_ChIP-Seq_ESCs_Human0.83410799
168HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.83395389
169PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.82690130
170ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.82349109
171CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.78336846
172DNAJC2_21179169_ChIP-ChIP_NT2_Human0.78273756
173RAD21_21589869_ChIP-Seq_MESCs_Mouse0.77884214
174PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.76857869
175TP53_20018659_ChIP-ChIP_R1E_Mouse0.76203052
176CBP_21632823_ChIP-Seq_H3396_Human0.75337650
177GATA6_21074721_ChIP-Seq_CACO-2_Human0.74686440
178* PPARA_22158963_ChIP-Seq_LIVER_Mouse0.74682516
179* RXR_22158963_ChIP-Seq_LIVER_Mouse0.73171239
180PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.73126215
181EZH2_27304074_Chip-Seq_ESCs_Mouse0.72764656
182NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.72089332
183NRF2_20460467_ChIP-Seq_MEFs_Mouse0.72089332
184MTF2_20144788_ChIP-Seq_MESCs_Mouse0.71115712
185ZFP281_18757296_ChIP-ChIP_E14_Mouse0.70712990
186YY1_22570637_ChIP-Seq_MALME-3M_Human0.70336273
187GATA1_19941827_ChIP-Seq_MEL_Mouse0.70061637
188CLOCK_20551151_ChIP-Seq_293T_Human0.69858295
189EGR1_19032775_ChIP-ChIP_M12_Human0.69159372
190JARID2_20075857_ChIP-Seq_MESCs_Mouse0.69151043
191STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.69069632
192FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.68648440
193MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.68598322
194LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.68470769

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.06229748
2MP0003693_abnormal_embryo_hatching6.69658175
3MP0000749_muscle_degeneration6.08848000
4MP0000751_myopathy5.94335734
5MP0004036_abnormal_muscle_relaxation4.36831524
6MP0004957_abnormal_blastocyst_morpholog4.35998183
7MP0003111_abnormal_nucleus_morphology4.04430180
8MP0003806_abnormal_nucleotide_metabolis3.92583118
9MP0003718_maternal_effect3.90396917
10MP0002106_abnormal_muscle_physiology3.79783163
11MP0009840_abnormal_foam_cell3.72261792
12MP0000759_abnormal_skeletal_muscle3.56463101
13MP0008260_abnormal_autophagy3.45128404
14MP0004087_abnormal_muscle_fiber3.40486700
15MP0005369_muscle_phenotype3.24483782
16MP0002332_abnormal_exercise_endurance3.08570060
17MP0004233_abnormal_muscle_weight3.04598392
18MP0005620_abnormal_muscle_contractility2.83760598
19MP0004130_abnormal_muscle_cell2.73214453
20MP0003315_abnormal_perineum_morphology2.53722720
21MP0003077_abnormal_cell_cycle2.52606474
22MP0005377_hearing/vestibular/ear_phenot2.51715851
23MP0003878_abnormal_ear_physiology2.51715851
24MP0004019_abnormal_vitamin_homeostasis2.26727404
25MP0010094_abnormal_chromosome_stability2.20762308
26MP0008932_abnormal_embryonic_tissue2.20651039
27MP0000733_abnormal_muscle_development2.20052962
28MP0005360_urolithiasis2.19322358
29MP0010352_gastrointestinal_tract_polyps2.18767297
30MP0002837_dystrophic_cardiac_calcinosis2.17223941
31MP0003646_muscle_fatigue2.11276408
32MP0001730_embryonic_growth_arrest2.04550885
33MP0002108_abnormal_muscle_morphology2.04138037
34MP0002972_abnormal_cardiac_muscle2.03376143
35MP0004264_abnormal_extraembryonic_tissu1.90817853
36MP0001666_abnormal_nutrient_absorption1.90644919
37MP0005451_abnormal_body_composition1.87601799
38MP0008058_abnormal_DNA_repair1.80160653
39MP0000490_abnormal_crypts_of1.76038432
40MP0001756_abnormal_urination1.72653663
41MP0003786_premature_aging1.71186624
42MP0003567_abnormal_fetal_cardiomyocyte1.69949958
43MP0004270_analgesia1.66700887
44MP0000013_abnormal_adipose_tissue1.60958591
45MP0006035_abnormal_mitochondrial_morpho1.60094799
46MP0005395_other_phenotype1.58180488
47MP0005332_abnormal_amino_acid1.56894617
48MP0003866_abnormal_defecation1.53552116
49MP0000537_abnormal_urethra_morphology1.46318691
50MP0003941_abnormal_skin_development1.43598569
51MP0000462_abnormal_digestive_system1.42818703
52MP0006036_abnormal_mitochondrial_physio1.42048459
53MP0010630_abnormal_cardiac_muscle1.41806418
54MP0002127_abnormal_cardiovascular_syste1.39053453
55MP0005085_abnormal_gallbladder_physiolo1.38743280
56MP0004084_abnormal_cardiac_muscle1.30370190
57MP0006138_congestive_heart_failure1.29541183
58MP0005380_embryogenesis_phenotype1.27945969
59MP0001672_abnormal_embryogenesis/_devel1.27945969
60MP0003950_abnormal_plasma_membrane1.26704468
61MP0000350_abnormal_cell_proliferation1.26614592
62MP0005385_cardiovascular_system_phenoty1.26431674
63MP0001544_abnormal_cardiovascular_syste1.26431674
64MP0001542_abnormal_bone_strength1.26048945
65MP0004510_myositis1.24060306
66MP0005670_abnormal_white_adipose1.22552895
67MP0009643_abnormal_urine_homeostasis1.19891688
68MP0008875_abnormal_xenobiotic_pharmacok1.19814355
69MP0001727_abnormal_embryo_implantation1.19285302
70MP0002822_catalepsy1.17890503
71MP0000477_abnormal_intestine_morphology1.17861464
72MP0003186_abnormal_redox_activity1.15548385
73MP0002080_prenatal_lethality1.13916387
74MP0002796_impaired_skin_barrier1.11812962
75MP0003984_embryonic_growth_retardation1.11528711
76MP0002088_abnormal_embryonic_growth/wei1.10452627
77MP0000358_abnormal_cell_content/1.08144782
78MP0002971_abnormal_brown_adipose1.08037025
79MP0001661_extended_life_span1.04769509
80MP0003221_abnormal_cardiomyocyte_apopto1.03965941
81MP0002269_muscular_atrophy1.00790719
82MP0008057_abnormal_DNA_replication1.00556904
83MP0004185_abnormal_adipocyte_glucose0.99287448
84MP0001697_abnormal_embryo_size0.97737341
85MP0003123_paternal_imprinting0.95933615
86MP0002086_abnormal_extraembryonic_tissu0.95025143
87MP0001764_abnormal_homeostasis0.93791791
88MP0005389_reproductive_system_phenotype0.93292548
89MP0000750_abnormal_muscle_regeneration0.92276683
90MP0000747_muscle_weakness0.91741961
91MP0005266_abnormal_metabolism0.90127188
92MP0005330_cardiomyopathy0.89895691
93MP0010234_abnormal_vibrissa_follicle0.87077170
94MP0005058_abnormal_lysosome_morphology0.85684604
95MP0005319_abnormal_enzyme/_coenzyme0.84548063
96MP0001919_abnormal_reproductive_system0.84510140
97MP0002277_abnormal_respiratory_mucosa0.84348345
98MP0008007_abnormal_cellular_replicative0.83686069
99MP0002085_abnormal_embryonic_tissue0.83245526
100MP0009780_abnormal_chondrocyte_physiolo0.82349512
101MP0003137_abnormal_impulse_conducting0.81989468
102MP0004043_abnormal_pH_regulation0.81570651
103MP0005375_adipose_tissue_phenotype0.80156772
104MP0005666_abnormal_adipose_tissue0.80129170
105MP0008775_abnormal_heart_ventricle0.78119961
106MP0002160_abnormal_reproductive_system0.77763529
107MP0000313_abnormal_cell_death0.77249838
108MP0009333_abnormal_splenocyte_physiolog0.76884516
109MP0000003_abnormal_adipose_tissue0.75259893
110MP0000627_abnormal_mammary_gland0.75114365
111MP0001145_abnormal_male_reproductive0.73005084
112MP0005408_hypopigmentation0.72441541
113MP0004147_increased_porphyrin_level0.71371451
114MP0002132_abnormal_respiratory_system0.70161313
115MP0004484_altered_response_of0.69622009
116MP0005636_abnormal_mineral_homeostasis0.69521489
117MP0002139_abnormal_hepatobiliary_system0.69186405
118MP0010329_abnormal_lipoprotein_level0.68952844
119MP0000372_irregular_coat_pigmentation0.68172617
120MP0002210_abnormal_sex_determination0.67781474
121MP0003119_abnormal_digestive_system0.67051629
122MP0005365_abnormal_bile_salt0.66818366
123MP0003195_calcinosis0.66430944
124MP0004085_abnormal_heartbeat0.66122526
125MP0003938_abnormal_ear_development0.66040324
126MP0000516_abnormal_urinary_system0.65335394
127MP0005367_renal/urinary_system_phenotyp0.65335394
128MP0004215_abnormal_myocardial_fiber0.63977177
129MP0005381_digestive/alimentary_phenotyp0.63378901
130MP0009053_abnormal_anal_canal0.62924712
131MP0008877_abnormal_DNA_methylation0.62763739
132MP0001663_abnormal_digestive_system0.62041608
133MP0003879_abnormal_hair_cell0.61976079
134MP0002136_abnormal_kidney_physiology0.61064360
135MP0001849_ear_inflammation0.60675721
136MP0009379_abnormal_foot_pigmentation0.60427815
137MP0003656_abnormal_erythrocyte_physiolo0.58420910
138MP0000266_abnormal_heart_morphology0.57234003
139MP0010030_abnormal_orbit_morphology0.57093723
140MP0001299_abnormal_eye_distance/0.54991693
141MP0004134_abnormal_chest_morphology0.53536834
142MP0002078_abnormal_glucose_homeostasis0.52170462
143MP0002638_abnormal_pupillary_reflex0.51029839
144MP0005167_abnormal_blood-brain_barrier0.49203419
145MP0003828_pulmonary_edema0.48399512
146MP0005083_abnormal_biliary_tract0.48309187
147MP0003045_fibrosis0.47392071
148MP0004142_abnormal_muscle_tone0.46106889
149MP0001529_abnormal_vocalization0.44745888
150MP0001346_abnormal_lacrimal_gland0.44667378
151MP0005376_homeostasis/metabolism_phenot0.43560870
152MP0005423_abnormal_somatic_nervous0.42355454
153MP0000762_abnormal_tongue_morphology0.39633298
154MP0009672_abnormal_birth_weight0.39333965
155MP0005584_abnormal_enzyme/coenzyme_acti0.38376513
156MP0002114_abnormal_axial_skeleton0.37859128
157MP0008569_lethality_at_weaning0.37823510
158MP0002734_abnormal_mechanical_nocicepti0.37700563
159MP0009250_abnormal_appendicular_skeleto0.36210794
160MP0005452_abnormal_adipose_tissue0.35522101
161MP0006276_abnormal_autonomic_nervous0.33837798
162MP0005187_abnormal_penis_morphology0.33656345
163MP0002128_abnormal_blood_circulation0.30892876
164MP0005535_abnormal_body_temperature0.30185722
165MP0003948_abnormal_gas_homeostasis0.30042764
166MP0005166_decreased_susceptibility_to0.29858844
167MP0002066_abnormal_motor_capabilities/c0.27475672
168MP0005334_abnormal_fat_pad0.26881923
169MP0001943_abnormal_respiration0.26058264
170MP0008789_abnormal_olfactory_epithelium0.25779195
171MP0002896_abnormal_bone_mineralization0.25743623
172MP0000230_abnormal_systemic_arterial0.23959648
173MP0001984_abnormal_olfaction0.21891490
174MP0002067_abnormal_sensory_capabilities0.20956995
175MP0005386_behavior/neurological_phenoty0.19131996
176MP0004924_abnormal_behavior0.19131996
177MP0004197_abnormal_fetal_growth/weight/0.17952032
178MP0002249_abnormal_larynx_morphology0.17630181
179MP0005645_abnormal_hypothalamus_physiol0.17473908

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)8.61839854
2Exercise-induced muscle cramps (HP:0003710)8.06717987
3Type 1 muscle fiber predominance (HP:0003803)8.06596406
4Muscle hypertrophy of the lower extremities (HP:0008968)6.46073747
5Distal arthrogryposis (HP:0005684)6.33681585
6Calf muscle hypertrophy (HP:0008981)5.68442945
7EMG: myopathic abnormalities (HP:0003458)5.31329693
8Rhabdomyolysis (HP:0003201)5.09878819
9Round ear (HP:0100830)5.09279926
10Myoglobinuria (HP:0002913)5.05704847
11Ulnar deviation of the wrist (HP:0003049)4.80825678
12Hyporeflexia of lower limbs (HP:0002600)4.69024025
13Centrally nucleated skeletal muscle fibers (HP:0003687)4.63749418
14Rimmed vacuoles (HP:0003805)4.62306750
15Abnormality of the calf musculature (HP:0001430)4.61350382
16Neck muscle weakness (HP:0000467)4.44179756
17Calcaneovalgus deformity (HP:0001848)4.29146020
18Abnormality of skeletal muscle fiber size (HP:0012084)4.26738620
19Breast hypoplasia (HP:0003187)4.17697256
20Abnormality of the left ventricular outflow tract (HP:0011103)4.08642703
21Subaortic stenosis (HP:0001682)4.08642703
22Cerebral hypomyelination (HP:0006808)4.00254927
23Muscle stiffness (HP:0003552)3.94480195
24Carpal bone hypoplasia (HP:0001498)3.90832275
25Difficulty running (HP:0009046)3.89867417
26Hyperglycinuria (HP:0003108)3.84486007
27Deformed tarsal bones (HP:0008119)3.82307942
28Rough bone trabeculation (HP:0100670)3.80912977
29Absent phalangeal crease (HP:0006109)3.78167193
30Ileus (HP:0002595)3.68763098
31Increased connective tissue (HP:0009025)3.59499480
32Increased variability in muscle fiber diameter (HP:0003557)3.51548738
33Myotonia (HP:0002486)3.50659612
34Frequent falls (HP:0002359)3.47837836
35Hyperglycinemia (HP:0002154)3.39124627
36Malignant hyperthermia (HP:0002047)3.35779244
37Abnormality of the umbilical cord (HP:0010881)3.34953514
38Hepatic necrosis (HP:0002605)3.30819979
39Distal lower limb muscle weakness (HP:0009053)3.29985031
40Proximal tubulopathy (HP:0000114)3.27283408
41Ureteral duplication (HP:0000073)3.22053600
42Areflexia of lower limbs (HP:0002522)3.21261027
43Nausea (HP:0002018)3.18119500
44Birth length less than 3rd percentile (HP:0003561)3.15969163
45Asymmetric septal hypertrophy (HP:0001670)3.15880196
46Abnormal finger flexion creases (HP:0006143)3.15331406
47Abnormality of glycine metabolism (HP:0010895)3.11868339
48Abnormality of serine family amino acid metabolism (HP:0010894)3.11868339
49Ventricular fibrillation (HP:0001663)3.08883394
50Sudden death (HP:0001699)3.07467941
51Multiple enchondromatosis (HP:0005701)3.07293468
52Dicarboxylic aciduria (HP:0003215)3.04607536
53Abnormality of dicarboxylic acid metabolism (HP:0010995)3.04607536
54Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.99027309
55Abnormality of alanine metabolism (HP:0010916)2.99027309
56Hyperalaninemia (HP:0003348)2.99027309
57Megaloblastic anemia (HP:0001889)2.98237472
58Macrocytic anemia (HP:0001972)2.97394392
59Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.91553487
60Secondary amenorrhea (HP:0000869)2.87280236
61EMG: neuropathic changes (HP:0003445)2.86812787
62Abnormal trabecular bone morphology (HP:0100671)2.83390473
63Progressive muscle weakness (HP:0003323)2.81183647
64CNS demyelination (HP:0007305)2.77140705
65Generalized muscle weakness (HP:0003324)2.75182940
66Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.74280448
67Patent foramen ovale (HP:0001655)2.73059191
68Abnormality of urine glucose concentration (HP:0011016)2.72708687
69Glycosuria (HP:0003076)2.72708687
70Premature ovarian failure (HP:0008209)2.70343519
71Hepatocellular necrosis (HP:0001404)2.69527988
72Scapular winging (HP:0003691)2.67146948
73Increased hepatocellular lipid droplets (HP:0006565)2.66632506
74Aplasia/Hypoplasia involving the musculature (HP:0001460)2.66429978
75Abnormality of cells of the erythroid lineage (HP:0012130)2.63375537
76Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.62360347
77Decreased activity of mitochondrial respiratory chain (HP:0008972)2.62360347
78Lethargy (HP:0001254)2.60970089
79Mildly elevated creatine phosphokinase (HP:0008180)2.60174777
80Lipid accumulation in hepatocytes (HP:0006561)2.58971658
81Death in infancy (HP:0001522)2.58500091
82Limb-girdle muscle atrophy (HP:0003797)2.56971182
83Increased serum lactate (HP:0002151)2.55937972
84Abnormality of the fetal cardiovascular system (HP:0010948)2.55468315
85Abnormal umbilical cord blood vessels (HP:0011403)2.55468315
86Single umbilical artery (HP:0001195)2.55468315
87Bulbar palsy (HP:0001283)2.55451524
88Fetal akinesia sequence (HP:0001989)2.52831767
89Myopathic facies (HP:0002058)2.51541333
90Microretrognathia (HP:0000308)2.50794483
91Weak cry (HP:0001612)2.50750170
92Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.50230984
93Abnormality of the calcaneus (HP:0008364)2.48520096
94Abnormality of the anterior horn cell (HP:0006802)2.47989880
95Degeneration of anterior horn cells (HP:0002398)2.47989880
96Impulsivity (HP:0100710)2.45069676
97Abnormal number of erythroid precursors (HP:0012131)2.43784819
98Abnormalities of placenta or umbilical cord (HP:0001194)2.43677698
993-Methylglutaconic aciduria (HP:0003535)2.42895417
100Abnormality of fatty-acid metabolism (HP:0004359)2.42783689
101Abnormality of serum amino acid levels (HP:0003112)2.42581963
102Increased CSF lactate (HP:0002490)2.41709089
103Gout (HP:0001997)2.41082189
104Distal lower limb amyotrophy (HP:0008944)2.40944032
105Prolonged neonatal jaundice (HP:0006579)2.40464921
106Aplasia/Hypoplasia of the patella (HP:0006498)2.40404222
107Slender build (HP:0001533)2.39701098
108Bundle branch block (HP:0011710)2.38119744
109Trismus (HP:0000211)2.37868659
110Dilated cardiomyopathy (HP:0001644)2.36183132
111Hyperkalemia (HP:0002153)2.33003513
112Mitochondrial inheritance (HP:0001427)2.32759178
113Absent radius (HP:0003974)2.32628256
114Gowers sign (HP:0003391)2.32265761
115CNS hypomyelination (HP:0003429)2.31576334
116Spinal rigidity (HP:0003306)2.31366784
117Fatigable weakness (HP:0003473)2.29816927
118Abnormality of the neuromuscular junction (HP:0003398)2.29816927
119Spastic paraparesis (HP:0002313)2.28781263
120Proximal amyotrophy (HP:0007126)2.28542684
121Hyperglycemia (HP:0003074)2.27806532
122Abnormality of the shoulder girdle musculature (HP:0001435)2.25170850
123Congenital, generalized hypertrichosis (HP:0004540)2.22875314
124Hypoglycemic coma (HP:0001325)2.22845397
125Oral leukoplakia (HP:0002745)2.22070343
126Patellar aplasia (HP:0006443)2.22044167
127Testicular atrophy (HP:0000029)2.21288470
128Sparse eyelashes (HP:0000653)2.21153892
129Abnormal biliary tract morphology (HP:0012440)2.19071145
130Generalized aminoaciduria (HP:0002909)2.17695073
131Muscle fiber splitting (HP:0003555)2.16415763
132Athetosis (HP:0002305)2.15881342
133Aplasia involving forearm bones (HP:0009822)2.15299137
134Absent forearm bone (HP:0003953)2.15299137
135Muscular dystrophy (HP:0003560)2.14914077
136Lactic acidosis (HP:0003128)2.14824537
137Increased intramyocellular lipid droplets (HP:0012240)2.14773923
138Absent hand (HP:0004050)2.13656755
139Difficulty climbing stairs (HP:0003551)2.09728821
140Hip contracture (HP:0003273)2.09272905
141Acute necrotizing encephalopathy (HP:0006965)2.06523879
142Congenital malformation of the right heart (HP:0011723)2.06226902
143Double outlet right ventricle (HP:0001719)2.06226902
144Methylmalonic aciduria (HP:0012120)2.06024710
145Hyperammonemia (HP:0001987)2.06004700
146Ventricular tachycardia (HP:0004756)2.05945940
147Abnormality of the foot musculature (HP:0001436)2.04049502
148Respiratory failure (HP:0002878)2.04000937
149Emotional lability (HP:0000712)2.03988968
150Abnormality of the musculature of the pelvis (HP:0001469)2.03652769
151Abnormality of the hip-girdle musculature (HP:0001445)2.03652769
152Waddling gait (HP:0002515)2.01477882
153Increased muscle lipid content (HP:0009058)2.00454605
154Muscle fiber inclusion bodies (HP:0100299)11.1747454
155Nemaline bodies (HP:0003798)10.9065212
156Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.6550956
157Personality changes (HP:0000751)1.99887486
158Aplasia/hypoplasia of the humerus (HP:0006507)1.99798268
159Shoulder girdle muscle weakness (HP:0003547)1.99674820
160Lipoatrophy (HP:0100578)1.97329780
161Cheilitis (HP:0100825)1.96390239
162Reticulocytopenia (HP:0001896)1.95458715
163Abnormality of the vitamin B12 metabolism (HP:0004341)1.95137142
164Pelvic girdle muscle weakness (HP:0003749)1.93759313
165Stenosis of the external auditory canal (HP:0000402)1.93594070
166Exercise intolerance (HP:0003546)1.92834062
167Abnormal mitochondria in muscle tissue (HP:0008316)1.92610074
168Foot dorsiflexor weakness (HP:0009027)1.88859270
169Respiratory insufficiency due to muscle weakness (HP:0002747)1.86705681
170Lower limb amyotrophy (HP:0007210)1.83465787
171Limb-girdle muscle weakness (HP:0003325)1.82912558
172Heart block (HP:0012722)1.74397279
173Long clavicles (HP:0000890)1.74164188
174Ragged-red muscle fibers (HP:0003200)1.72526520
175Nonprogressive disorder (HP:0003680)1.71814169
176Metatarsus adductus (HP:0001840)1.69336257
177Popliteal pterygium (HP:0009756)1.69291427
178Paralysis (HP:0003470)1.69074382
179Facial diplegia (HP:0001349)1.67225245
180Ulnar deviation of finger (HP:0009465)1.62685027
181Abnormal atrioventricular conduction (HP:0005150)1.61769784
182Type 2 muscle fiber atrophy (HP:0003554)1.59496291
183Muscle fiber atrophy (HP:0100295)1.46532660
184Ventricular arrhythmia (HP:0004308)1.46339592
185Steppage gait (HP:0003376)1.41139368
186Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.37346681
187Limited hip movement (HP:0008800)1.37079516
188Oligomenorrhea (HP:0000876)1.35831084
189Adducted thumb (HP:0001181)1.27635255
190Congenital hip dislocation (HP:0001374)1.25658478
191Amniotic constriction ring (HP:0009775)1.22957933
192Abnormality of placental membranes (HP:0011409)1.22957933
193Short palpebral fissure (HP:0012745)1.22716586

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PHKG16.19443634
2PHKG26.19443634
3TTN5.75715011
4BUB15.49079500
5EPHA24.86008481
6WEE14.83840834
7PNCK3.38026377
8STK163.35044439
9NME13.16940178
10NEK12.87242880
11EIF2AK12.84723117
12TSSK62.82297590
13PIK3CG2.82291920
14AKT32.54728511
15TTK2.38197960
16NME22.26111566
17PLK42.22547611
18ZAK2.17087285
19TESK22.04505192
20IRAK32.02346479
21ARAF1.98894881
22SRPK11.88346406
23MAPK121.84695303
24PDK31.72173032
25PDK41.72173032
26MUSK1.58458125
27MAP2K31.58346950
28PIM21.52461024
29NEK21.52301751
30MAP3K71.49512630
31EIF2AK31.45753802
32PLK11.39293176
33MAP2K21.37794861
34BRSK21.37396210
35PDK21.37331351
36LMTK21.36238039
37BRAF1.29502347
38NUAK11.29091932
39MAP2K41.28661424
40MAPKAPK31.28047450
41PLK31.27984945
42PRKCI1.20476431
43BCKDK1.17749443
44FRK1.14887275
45STK38L1.09331068
46RPS6KB21.08698323
47AURKB1.05627847
48AURKA1.05279659
49MAP3K81.03630879
50MST40.98469756
51MAP3K110.98043293
52TRPM70.97500105
53EEF2K0.95775947
54ERBB30.92785669
55MOS0.90681962
56MST1R0.88542078
57PAK10.84991323
58CHEK20.83999761
59CCNB10.83283395
60DYRK1B0.82732462
61LIMK10.82453264
62PAK40.81797590
63DYRK30.81762612
64ACVR1B0.79076660
65STK240.78680486
66BRSK10.78502976
67TLK10.77587358
68ABL20.74887341
69PRKAA20.73731923
70PBK0.69537082
71VRK10.66852698
72MAP2K60.66085543
73MAP3K130.64074172
74DMPK0.63570626
75MARK10.61513349
76TESK10.58973359
77PINK10.57534357
78TAOK20.56633901
79CAMK40.55849090
80MAPK70.53476770
81MAP3K30.53211448
82CSNK2A10.52392529
83CDK40.51478881
84PRKG10.51037257
85EIF2AK20.50981743
86PKN10.49493198
87NEK90.48960597
88CAMK2G0.48851006
89CSNK2A20.48365218
90MAPK110.47334907
91KSR20.47319148
92LATS20.44888723
93KDR0.44408820
94ALK0.43269504
95CSNK1E0.42325927
96MAP2K10.41393082
97CAMK2A0.41318546
98MAPK40.40383926
99MARK30.39968063
100TIE10.39216577
101CDK190.39103291
102SGK30.38955692
103TAOK10.38509932
104MAPK130.37247311
105CAMK10.37045565
106PIK3CA0.36139773
107OBSCN0.35020577
108RIPK10.34491837
109ROCK10.34077304
110MAP3K10.33866363
111CAMK2D0.32504807
112CHEK10.32169861
113RPS6KB10.31957254
114ICK0.31826537
115SGK20.31262003
116PRKACA0.30652998
117CDK20.30619535
118ILK0.30299527
119DYRK20.30242184
120CDC70.29708354
121STK30.28242301
122PRKG20.28219545
123ATR0.27618711
124TRIB30.27401844
125CAMK2B0.26700209
126PIM10.25960935
127PRKACB0.25926471
128CDK70.25260769
129PRKAA10.25096300
130LRRK20.24981162
131STK40.24098291
132CSNK1A10.23991037
133RPS6KA30.23748390
134SGK10.23584973
135LATS10.22826612
136MELK0.22092184
137EPHB10.21761807
138MAPK100.21028475
139MKNK20.20158600
140SGK4940.19211981
141SGK2230.19211981
142AKT20.17837696
143RPS6KA10.17789164
144STK380.17318236
145NLK0.17256155
146CAMKK20.17102877
147IRAK20.16855464
148MYLK0.16268319
149MKNK10.16232253
150CDK10.16091638
151TBK10.16077821
152RAF10.13856814
153PDPK10.13620298
154RPS6KA50.13578778
155MAP3K40.12328486
156KSR10.10982348
157MAP2K70.10490690
158PRKACG0.10452505
159MARK20.10268907
160DAPK20.10023418
161SIK10.08767739
162MTOR0.07906367
163MAP3K90.07003460
164MAP3K60.06928098
165PDK10.06624176
166PRKD10.06025767
167CSNK1D0.05665624
168TNK20.05433250
169PAK60.05297600
170MAP3K50.04897594
171RPS6KL10.04857423
172RPS6KC10.04857423
173MAPK90.03508095
174GSK3B0.03180625
175PTK2B0.03135452
176CDK50.02610348
177MAP4K20.02389108

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.58340945
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.37068471
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.11437218
4Dilated cardiomyopathy_Homo sapiens_hsa054143.78032513
5RNA polymerase_Homo sapiens_hsa030203.33130834
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.21735367
7Ribosome_Homo sapiens_hsa030103.20821523
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.69739617
9Vitamin B6 metabolism_Homo sapiens_hsa007502.55142569
10Regulation of autophagy_Homo sapiens_hsa041402.52909187
11Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.51651736
12Glucagon signaling pathway_Homo sapiens_hsa049222.44534801
13RNA transport_Homo sapiens_hsa030132.31448281
14Pyrimidine metabolism_Homo sapiens_hsa002402.22234295
15Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.19063863
16DNA replication_Homo sapiens_hsa030302.10557674
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.08152069
18Folate biosynthesis_Homo sapiens_hsa007902.05707927
19Oxidative phosphorylation_Homo sapiens_hsa001902.01262181
20Mismatch repair_Homo sapiens_hsa034302.00306858
21Arginine biosynthesis_Homo sapiens_hsa002201.99638708
22Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.97545288
23* Insulin signaling pathway_Homo sapiens_hsa049101.89770190
24Oxytocin signaling pathway_Homo sapiens_hsa049211.88224925
25Parkinsons disease_Homo sapiens_hsa050121.83321422
26Calcium signaling pathway_Homo sapiens_hsa040201.81269724
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.80975626
28Fat digestion and absorption_Homo sapiens_hsa049751.73611334
29Spliceosome_Homo sapiens_hsa030401.73489562
30Glutathione metabolism_Homo sapiens_hsa004801.68508604
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.68352860
32Drug metabolism - other enzymes_Homo sapiens_hsa009831.62502424
33Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.60829061
34Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.60813829
35Homologous recombination_Homo sapiens_hsa034401.57185925
36Huntingtons disease_Homo sapiens_hsa050161.55170697
37Insulin resistance_Homo sapiens_hsa049311.54297220
38* Fructose and mannose metabolism_Homo sapiens_hsa000511.43406005
39Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.39602191
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.37156450
41Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.36545127
42Pentose and glucuronate interconversions_Homo sapiens_hsa000401.36536493
43Nucleotide excision repair_Homo sapiens_hsa034201.35352907
44Purine metabolism_Homo sapiens_hsa002301.35037292
45Sulfur metabolism_Homo sapiens_hsa009201.34981280
46Galactose metabolism_Homo sapiens_hsa000521.33750167
47Base excision repair_Homo sapiens_hsa034101.32008834
48Cyanoamino acid metabolism_Homo sapiens_hsa004601.28518648
49* Carbon metabolism_Homo sapiens_hsa012001.26132943
50* Pentose phosphate pathway_Homo sapiens_hsa000301.25747682
51Mineral absorption_Homo sapiens_hsa049781.22904406
52Cysteine and methionine metabolism_Homo sapiens_hsa002701.21918968
53Sulfur relay system_Homo sapiens_hsa041221.20867183
54Cell cycle_Homo sapiens_hsa041101.20045196
55Nitrogen metabolism_Homo sapiens_hsa009101.18507426
56Vitamin digestion and absorption_Homo sapiens_hsa049771.17974828
57* AMPK signaling pathway_Homo sapiens_hsa041521.17245723
58Glycerophospholipid metabolism_Homo sapiens_hsa005641.15324661
59Renin-angiotensin system_Homo sapiens_hsa046141.11687414
60Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.10047004
61Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.09268525
62Adipocytokine signaling pathway_Homo sapiens_hsa049201.08289327
63Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.07758388
64Phenylalanine metabolism_Homo sapiens_hsa003601.04310845
65Alzheimers disease_Homo sapiens_hsa050101.03549956
66Gastric acid secretion_Homo sapiens_hsa049711.03548343
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.03175372
68Vascular smooth muscle contraction_Homo sapiens_hsa042701.01686477
69Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.99911973
70Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.96923853
71Basal transcription factors_Homo sapiens_hsa030220.96030562
72One carbon pool by folate_Homo sapiens_hsa006700.95964662
73Linoleic acid metabolism_Homo sapiens_hsa005910.94230393
74Arachidonic acid metabolism_Homo sapiens_hsa005900.94118056
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.94024146
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.93136016
77Biosynthesis of amino acids_Homo sapiens_hsa012300.93081515
78Arginine and proline metabolism_Homo sapiens_hsa003300.90846504
79Butanoate metabolism_Homo sapiens_hsa006500.90301665
80Epstein-Barr virus infection_Homo sapiens_hsa051690.86420963
81alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.84084709
82* Metabolic pathways_Homo sapiens_hsa011000.80957544
83Selenocompound metabolism_Homo sapiens_hsa004500.79748445
84Renin secretion_Homo sapiens_hsa049240.78100595
85Fanconi anemia pathway_Homo sapiens_hsa034600.77533136
86Long-term potentiation_Homo sapiens_hsa047200.74260816
87p53 signaling pathway_Homo sapiens_hsa041150.73175443
88Fatty acid degradation_Homo sapiens_hsa000710.70781721
89GnRH signaling pathway_Homo sapiens_hsa049120.70046343
90Cardiac muscle contraction_Homo sapiens_hsa042600.70033623
91beta-Alanine metabolism_Homo sapiens_hsa004100.68378530
92Tight junction_Homo sapiens_hsa045300.65062248
93Fatty acid elongation_Homo sapiens_hsa000620.64470080
94Glycerolipid metabolism_Homo sapiens_hsa005610.64064558
95Chemical carcinogenesis_Homo sapiens_hsa052040.63189620
96Retinol metabolism_Homo sapiens_hsa008300.62701809
97Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.61973713
98Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.61861574
99Starch and sucrose metabolism_Homo sapiens_hsa005000.59605936
100Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.58669949
101Propanoate metabolism_Homo sapiens_hsa006400.58294079
102Oocyte meiosis_Homo sapiens_hsa041140.57478812
103RNA degradation_Homo sapiens_hsa030180.57299331
104FoxO signaling pathway_Homo sapiens_hsa040680.56369485
105Viral myocarditis_Homo sapiens_hsa054160.53516833
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.53432918
107Circadian entrainment_Homo sapiens_hsa047130.49089251
108Histidine metabolism_Homo sapiens_hsa003400.47856701
109Insulin secretion_Homo sapiens_hsa049110.47522928
110Caffeine metabolism_Homo sapiens_hsa002320.44786513
111Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.44749965
112Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43787175
113Aldosterone synthesis and secretion_Homo sapiens_hsa049250.43696688
114Focal adhesion_Homo sapiens_hsa045100.42050695
115Sphingolipid metabolism_Homo sapiens_hsa006000.42015473
116Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.40250127
117Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39581768
118Long-term depression_Homo sapiens_hsa047300.39547508
119Maturity onset diabetes of the young_Homo sapiens_hsa049500.38469658
120Pyruvate metabolism_Homo sapiens_hsa006200.37191971
121Salivary secretion_Homo sapiens_hsa049700.36425813
122Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36091723
123MAPK signaling pathway_Homo sapiens_hsa040100.34916713
124Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.34241170
125Lysine degradation_Homo sapiens_hsa003100.30653281
126Peroxisome_Homo sapiens_hsa041460.28074128
127Central carbon metabolism in cancer_Homo sapiens_hsa052300.27310756
128Olfactory transduction_Homo sapiens_hsa047400.27280084
129Tyrosine metabolism_Homo sapiens_hsa003500.26947420
130Cholinergic synapse_Homo sapiens_hsa047250.25655086
131PPAR signaling pathway_Homo sapiens_hsa033200.25569824
132Amphetamine addiction_Homo sapiens_hsa050310.23669344
133Steroid hormone biosynthesis_Homo sapiens_hsa001400.22473330
134Non-homologous end-joining_Homo sapiens_hsa034500.22299158
135Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.22145004
136mTOR signaling pathway_Homo sapiens_hsa041500.20936848
137Circadian rhythm_Homo sapiens_hsa047100.20843501
138Collecting duct acid secretion_Homo sapiens_hsa049660.20584315
139mRNA surveillance pathway_Homo sapiens_hsa030150.19815007
140Fatty acid metabolism_Homo sapiens_hsa012120.19499719
141Protein export_Homo sapiens_hsa030600.19093706
142* Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.18203801
143HIF-1 signaling pathway_Homo sapiens_hsa040660.18040873
144Tryptophan metabolism_Homo sapiens_hsa003800.17865019
145Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.17560763
146Ether lipid metabolism_Homo sapiens_hsa005650.16917277
147Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.16680280
148cAMP signaling pathway_Homo sapiens_hsa040240.16420076
149Glioma_Homo sapiens_hsa052140.15129440
150Melanogenesis_Homo sapiens_hsa049160.14376144
151Phototransduction_Homo sapiens_hsa047440.14203640
152Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.12306841
153Dopaminergic synapse_Homo sapiens_hsa047280.10561915
154Adherens junction_Homo sapiens_hsa045200.10531208
155Regulation of actin cytoskeleton_Homo sapiens_hsa048100.10166557
156VEGF signaling pathway_Homo sapiens_hsa043700.10064519
157Neurotrophin signaling pathway_Homo sapiens_hsa047220.08266410
158Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.05602377

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