PRKAB1

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: The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to pheromone (GO:0019236)6.21994591
2behavioral response to nicotine (GO:0035095)5.23285749
3folic acid metabolic process (GO:0046655)4.50589549
4DNA deamination (GO:0045006)4.45146674
5detection of chemical stimulus involved in sensory perception of smell (GO:0050911)4.38253020
6protein-cofactor linkage (GO:0018065)4.23264124
7preassembly of GPI anchor in ER membrane (GO:0016254)4.05792465
8purine nucleobase biosynthetic process (GO:0009113)4.01193997
9protein K11-linked deubiquitination (GO:0035871)3.97583596
10positive regulation of mitochondrial fission (GO:0090141)3.95075348
11DNA replication checkpoint (GO:0000076)3.85301274
12nucleobase biosynthetic process (GO:0046112)3.84912618
13formation of translation preinitiation complex (GO:0001731)3.82454118
14sulfation (GO:0051923)3.79354296
15DNA strand elongation involved in DNA replication (GO:0006271)3.76476171
16regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.73040565
17fucose catabolic process (GO:0019317)3.71539526
18L-fucose metabolic process (GO:0042354)3.71539526
19L-fucose catabolic process (GO:0042355)3.71539526
20indolalkylamine metabolic process (GO:0006586)3.70608108
21indole-containing compound catabolic process (GO:0042436)3.64033238
22indolalkylamine catabolic process (GO:0046218)3.64033238
23tryptophan catabolic process (GO:0006569)3.64033238
24negative regulation of telomere maintenance (GO:0032205)3.63871845
25neural tube formation (GO:0001841)3.63096665
26kynurenine metabolic process (GO:0070189)3.62893310
27protoporphyrinogen IX metabolic process (GO:0046501)3.58867022
28regulation of mitochondrial fission (GO:0090140)3.56909605
29DNA strand elongation (GO:0022616)3.56557740
30cellular ketone body metabolic process (GO:0046950)3.52375042
31ubiquinone biosynthetic process (GO:0006744)3.52243878
32mitotic metaphase plate congression (GO:0007080)3.50575189
33folic acid-containing compound biosynthetic process (GO:0009396)3.50106315
34DNA replication initiation (GO:0006270)3.48024992
35ribosomal small subunit assembly (GO:0000028)3.47087752
36telomere maintenance via semi-conservative replication (GO:0032201)3.46932048
37water-soluble vitamin biosynthetic process (GO:0042364)3.45493578
38protein localization to kinetochore (GO:0034501)3.42435578
39detection of chemical stimulus involved in sensory perception (GO:0050907)3.40580464
40rRNA catabolic process (GO:0016075)3.39972279
41ubiquinone metabolic process (GO:0006743)3.36607236
42ribosome assembly (GO:0042255)3.32869316
43tryptophan metabolic process (GO:0006568)3.31074529
44respiratory chain complex IV assembly (GO:0008535)3.29891395
45protoporphyrinogen IX biosynthetic process (GO:0006782)3.24821381
46S-adenosylmethionine metabolic process (GO:0046500)3.24762545
47heme biosynthetic process (GO:0006783)3.23214731
48cilium or flagellum-dependent cell motility (GO:0001539)3.20893098
49protein localization to chromosome, centromeric region (GO:0071459)3.20169865
50positive regulation of prostaglandin secretion (GO:0032308)3.17946146
51proteasome assembly (GO:0043248)3.17386210
52mitotic nuclear envelope disassembly (GO:0007077)3.17212836
53reflex (GO:0060004)3.16512573
54folic acid transport (GO:0015884)3.16463841
55ketone body metabolic process (GO:1902224)3.15876782
56regulation of spindle organization (GO:0090224)3.15226101
57phosphatidylinositol acyl-chain remodeling (GO:0036149)3.14952827
58ribosome biogenesis (GO:0042254)3.13924191
59nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.12743933
60telomere maintenance via recombination (GO:0000722)3.12033127
61mannosylation (GO:0097502)3.11972373
62mitochondrial respiratory chain complex I assembly (GO:0032981)3.11533715
63NADH dehydrogenase complex assembly (GO:0010257)3.11533715
64mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.11533715
65maturation of SSU-rRNA (GO:0030490)3.10898944
66detection of light stimulus involved in visual perception (GO:0050908)3.10143993
67detection of light stimulus involved in sensory perception (GO:0050962)3.10143993
68DNA methylation involved in gamete generation (GO:0043046)3.09966962
69exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.08501488
70GPI anchor metabolic process (GO:0006505)3.08445229
71quinone biosynthetic process (GO:1901663)3.07597765
72platelet dense granule organization (GO:0060155)3.05614458
73deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.03565956
74indole-containing compound metabolic process (GO:0042430)3.03319829
75attachment of spindle microtubules to kinetochore (GO:0008608)3.01591061
76porphyrin-containing compound biosynthetic process (GO:0006779)3.01358703
77gamma-aminobutyric acid transport (GO:0015812)2.97269188
78cellular biogenic amine catabolic process (GO:0042402)2.97100347
79amine catabolic process (GO:0009310)2.97100347
80metaphase plate congression (GO:0051310)2.97049227
81anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.95720237
82CENP-A containing nucleosome assembly (GO:0034080)2.92493232
83nuclear envelope disassembly (GO:0051081)2.89982988
84membrane disassembly (GO:0030397)2.89982988
85IMP biosynthetic process (GO:0006188)2.89354669
86seminiferous tubule development (GO:0072520)2.89234537
87mitotic recombination (GO:0006312)2.88866148
88GMP metabolic process (GO:0046037)2.87454875
89piRNA metabolic process (GO:0034587)2.86475087
90DNA replication-independent nucleosome assembly (GO:0006336)2.86426300
91DNA replication-independent nucleosome organization (GO:0034724)2.86426300
92regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.86355609
93DNA unwinding involved in DNA replication (GO:0006268)2.84087121
94detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.83390729
95nephron tubule morphogenesis (GO:0072078)2.82326024
96nephron epithelium morphogenesis (GO:0072088)2.82326024
97positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.81520309
98protein polyglutamylation (GO:0018095)2.80906367
99negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.80860521
100RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.80789907
101cytochrome complex assembly (GO:0017004)2.77903835
102protein complex biogenesis (GO:0070271)2.77837796
103regulation of translation in response to stress (GO:0043555)2.76609598
104translational initiation (GO:0006413)2.75113938
105ribonucleoprotein complex biogenesis (GO:0022613)2.73988232
106mitotic chromosome condensation (GO:0007076)2.73543626
107primary amino compound metabolic process (GO:1901160)2.73068200
108epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.72524503
109phosphatidylserine acyl-chain remodeling (GO:0036150)2.70683899
110telomere maintenance via telomere lengthening (GO:0010833)2.70552504
111chromatin remodeling at centromere (GO:0031055)2.70510961
112GPI anchor biosynthetic process (GO:0006506)2.70164848
113positive regulation of fatty acid transport (GO:2000193)2.69090568
114erythrocyte maturation (GO:0043249)2.68813357
115rRNA modification (GO:0000154)2.68481558
116viral transcription (GO:0019083)2.67728451
117amino acid salvage (GO:0043102)2.65706413
118L-methionine salvage (GO:0071267)2.65706413
119L-methionine biosynthetic process (GO:0071265)2.65706413
120L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.65648925
121ATP hydrolysis coupled proton transport (GO:0015991)2.65474824
122energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.65474824
123translational termination (GO:0006415)2.65157316
124tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.63940631
125RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.63940631
126epithelial cilium movement (GO:0003351)2.63371156
127protein localization to cilium (GO:0061512)2.61088198
128mitochondrial respiratory chain complex assembly (GO:0033108)2.60668860
129cellular response to ATP (GO:0071318)2.59832374
130serotonin metabolic process (GO:0042428)2.59187859
131maturation of 5.8S rRNA (GO:0000460)2.58935712
132positive regulation of oligodendrocyte differentiation (GO:0048714)2.58825868
133tetrapyrrole biosynthetic process (GO:0033014)2.58070482
134cilium morphogenesis (GO:0060271)2.57858299
135negative regulation of transcription regulatory region DNA binding (GO:2000678)2.57746197
136positive regulation of icosanoid secretion (GO:0032305)2.57093990
137heme metabolic process (GO:0042168)2.56703161
138ribosomal large subunit biogenesis (GO:0042273)2.56098098
139translational elongation (GO:0006414)2.55947151
140negative regulation of translational initiation (GO:0045947)2.55459466
141nucleotide transmembrane transport (GO:1901679)2.54636434
142cilium movement (GO:0003341)2.54532704
143folic acid-containing compound metabolic process (GO:0006760)2.53914282
144rRNA processing (GO:0006364)2.53423688
145establishment of chromosome localization (GO:0051303)2.52166496
146male meiosis (GO:0007140)2.51903570
147glycine metabolic process (GO:0006544)2.51891761
148metallo-sulfur cluster assembly (GO:0031163)2.51751335
149iron-sulfur cluster assembly (GO:0016226)2.51751335
150regulation of mitotic spindle organization (GO:0060236)2.51710926
151synapsis (GO:0007129)2.51458511
152negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.50396093
153negative regulation of ligase activity (GO:0051352)2.50396093
154positive regulation of T-helper 1 type immune response (GO:0002827)2.49997415
155C-terminal protein lipidation (GO:0006501)2.49772158
156positive regulation of chromosome segregation (GO:0051984)2.49654251
157regulation of cilium movement (GO:0003352)2.49303676
158histone-serine phosphorylation (GO:0035404)2.48938447
159neurotransmitter metabolic process (GO:0042133)2.48534503
160glyoxylate metabolic process (GO:0046487)2.48474407
161positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.48238932
162replication fork processing (GO:0031297)2.46928417
163recombinational repair (GO:0000725)2.46538279
164DNA replication-dependent nucleosome assembly (GO:0006335)2.46426321
165DNA replication-dependent nucleosome organization (GO:0034723)2.46426321
166protein localization to chromosome (GO:0034502)2.46420152
167G1/S transition of mitotic cell cycle (GO:0000082)2.46231864
168cell cycle G1/S phase transition (GO:0044843)2.46231864
169IMP metabolic process (GO:0046040)2.46075834
170pyrimidine dimer repair (GO:0006290)2.45831125
171rRNA metabolic process (GO:0016072)2.45824621
172drug catabolic process (GO:0042737)2.45401658
173negative regulation of synaptic transmission, GABAergic (GO:0032229)2.45050124
174cell wall macromolecule metabolic process (GO:0044036)2.44692980
175pseudouridine synthesis (GO:0001522)2.44691259
176kinetochore organization (GO:0051383)2.43669641
177pteridine-containing compound biosynthetic process (GO:0042559)2.42309952
178porphyrin-containing compound metabolic process (GO:0006778)2.42304996
179nuclear envelope organization (GO:0006998)2.42063648
180cellular metabolic compound salvage (GO:0043094)2.40397253
181methionine biosynthetic process (GO:0009086)2.40208724
182nucleotide-excision repair, DNA gap filling (GO:0006297)2.38992395
183positive regulation of ligase activity (GO:0051351)2.37978801
184DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.37352053
185signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.35385344
186signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.35385344
187signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.35385344
188SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.35190004
189negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.34924461
190intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.34217022
191signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.34217022
192regulation of cellular amino acid metabolic process (GO:0006521)2.33805436
193signal transduction involved in DNA damage checkpoint (GO:0072422)2.32288814
194signal transduction involved in DNA integrity checkpoint (GO:0072401)2.32288814

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.59363896
2ZNF274_21170338_ChIP-Seq_K562_Hela5.05467175
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.88509150
4VDR_22108803_ChIP-Seq_LS180_Human4.00181714
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.82798111
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.15482258
7IGF1R_20145208_ChIP-Seq_DFB_Human3.15208277
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.08928049
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.51644589
10FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.48926382
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.45273742
12E2F4_17652178_ChIP-ChIP_JURKAT_Human2.44941737
13* ETS1_20019798_ChIP-Seq_JURKAT_Human2.40076852
14* GABP_17652178_ChIP-ChIP_JURKAT_Human2.37040951
15IRF1_19129219_ChIP-ChIP_H3396_Human2.35327234
16* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.33123067
17EST1_17652178_ChIP-ChIP_JURKAT_Human2.32625116
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.24621876
19GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.12817089
20MYC_19030024_ChIP-ChIP_MESCs_Mouse2.12617277
21MYC_19079543_ChIP-ChIP_MESCs_Mouse2.08299607
22MYC_22102868_ChIP-Seq_BL_Human2.07252861
23* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.99905455
24NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.99511653
25AR_21909140_ChIP-Seq_LNCAP_Human1.97212202
26NELFA_20434984_ChIP-Seq_ESCs_Mouse1.96216645
27ELF1_17652178_ChIP-ChIP_JURKAT_Human1.95538325
28EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.93145101
29VDR_23849224_ChIP-Seq_CD4+_Human1.92583068
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.92249938
31EZH2_22144423_ChIP-Seq_EOC_Human1.90452124
32XRN2_22483619_ChIP-Seq_HELA_Human1.84490212
33MYC_18940864_ChIP-ChIP_HL60_Human1.81761502
34* GABP_19822575_ChIP-Seq_HepG2_Human1.79757569
35EGR1_23403033_ChIP-Seq_LIVER_Mouse1.78134071
36EGR1_19374776_ChIP-ChIP_THP-1_Human1.74003410
37DCP1A_22483619_ChIP-Seq_HELA_Human1.73491729
38TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.72924335
39E2F1_18555785_ChIP-Seq_MESCs_Mouse1.71831886
40ERA_21632823_ChIP-Seq_H3396_Human1.70107536
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67231631
42FOXP3_21729870_ChIP-Seq_TREG_Human1.66614873
43GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.64199174
44TP53_22573176_ChIP-Seq_HFKS_Human1.62811047
45EWS_26573619_Chip-Seq_HEK293_Human1.58430253
46GATA3_21878914_ChIP-Seq_MCF-7_Human1.57930100
47CIITA_25753668_ChIP-Seq_RAJI_Human1.57694598
48GATA1_22025678_ChIP-Seq_K562_Human1.56352415
49ER_23166858_ChIP-Seq_MCF-7_Human1.56029857
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.55051996
51FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.54716415
52PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53561367
53E2F1_21310950_ChIP-Seq_MCF-7_Human1.50692961
54MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.49842707
55FOXA1_25329375_ChIP-Seq_VCAP_Human1.48555782
56FOXA1_27270436_Chip-Seq_PROSTATE_Human1.48555782
57PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.48497187
58* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.48056991
59SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.47259188
60ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.46865659
61NANOG_18555785_ChIP-Seq_MESCs_Mouse1.46608766
62KDM5A_27292631_Chip-Seq_BREAST_Human1.45229411
63CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.43521739
64HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.42423356
65HOXB7_26014856_ChIP-Seq_BT474_Human1.42160209
66NCOR_22424771_ChIP-Seq_293T_Human1.40717673
67HOXB4_20404135_ChIP-ChIP_EML_Mouse1.40367299
68ZFX_18555785_ChIP-Seq_MESCs_Mouse1.40051481
69CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.39086694
70ETV2_25802403_ChIP-Seq_MESCs_Mouse1.38610158
71ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.38589565
72VDR_21846776_ChIP-Seq_THP-1_Human1.37726784
73AR_21572438_ChIP-Seq_LNCaP_Human1.37344329
74ZFP57_27257070_Chip-Seq_ESCs_Mouse1.36334906
75FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.34496182
76SRF_21415370_ChIP-Seq_HL-1_Mouse1.34215052
77ERG_20887958_ChIP-Seq_HPC-7_Mouse1.31385060
78EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.31205816
79CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.30861533
80TTF2_22483619_ChIP-Seq_HELA_Human1.30416090
81LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.29604399
82GATA1_22383799_ChIP-Seq_G1ME_Mouse1.28874419
83YY1_22570637_ChIP-Seq_MALME-3M_Human1.28585171
84STAT3_1855785_ChIP-Seq_MESCs_Mouse1.28210598
85MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.28109808
86POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.28015051
87THAP11_20581084_ChIP-Seq_MESCs_Mouse1.27661611
88CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.27592926
89* NANOG_20526341_ChIP-Seq_ESCs_Human1.26413622
90TFEB_21752829_ChIP-Seq_HELA_Human1.26268263
91P53_21459846_ChIP-Seq_SAOS-2_Human1.26093057
92GBX2_23144817_ChIP-Seq_PC3_Human1.24869191
93SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.24468292
94FOXA1_21572438_ChIP-Seq_LNCaP_Human1.23692359
95ZNF263_19887448_ChIP-Seq_K562_Human1.23121426
96CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.22385711
97SCL_19346495_ChIP-Seq_HPC-7_Human1.22008755
98AR_20517297_ChIP-Seq_VCAP_Human1.21804179
99HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.21386673
100RAC3_21632823_ChIP-Seq_H3396_Human1.21298735
101MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.21129473
102MYC_19829295_ChIP-Seq_ESCs_Human1.20893201
103* SPI1_23547873_ChIP-Seq_NB4_Human1.20123259
104* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.20002735
105RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.16869313
106YY1_21170310_ChIP-Seq_MESCs_Mouse1.16356732
107RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.15878025
108FLI1_27457419_Chip-Seq_LIVER_Mouse1.15759610
109OCT4_20526341_ChIP-Seq_ESCs_Human1.15509558
110* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.14416111
111* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14263902
112BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12998627
113POU3F2_20337985_ChIP-ChIP_501MEL_Human1.12780363
114CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.12372291
115PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.10551992
116RNF2_27304074_Chip-Seq_NSC_Mouse1.10507202
117* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.09378910
118TAF2_19829295_ChIP-Seq_ESCs_Human1.08739760
119CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.08712241
120NOTCH1_21737748_ChIP-Seq_TLL_Human1.08276578
121E2F1_20622854_ChIP-Seq_HELA_Human1.08234800
122EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.08226546
123* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.07744714
124NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.07084600
125* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.06998674
126TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06694863
127PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.06034551
128TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.05623923
129PHF8_20622854_ChIP-Seq_HELA_Human1.05563172
130GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.05145572
131BCAT_22108803_ChIP-Seq_LS180_Human1.05047913
132* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.04852990
133* MAF_26560356_Chip-Seq_TH1_Human1.04497462
134BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.04497241
135CBX2_27304074_Chip-Seq_ESCs_Mouse1.03865956
136FUS_26573619_Chip-Seq_HEK293_Human1.03762389
137CBP_20019798_ChIP-Seq_JUKART_Human1.03695171
138IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03695171
139POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.03289844
140E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.02001363
141EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.00761686
142KAP1_22055183_ChIP-Seq_ESCs_Mouse1.00664461
143* ELK3_25401928_ChIP-Seq_HUVEC_Human1.00619994
144* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.00518255
145BCL6_27268052_Chip-Seq_Bcells_Human0.99816659
146* UTX_26944678_Chip-Seq_JUKART_Human0.99122943
147PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.99044021
148GATA3_26560356_Chip-Seq_TH2_Human0.98683350
149KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.97630075
150* ELK1_19687146_ChIP-ChIP_HELA_Human0.97598759
151ATF3_27146783_Chip-Seq_COLON_Human0.97535425
152GATA2_22383799_ChIP-Seq_G1ME_Mouse0.97529487
153* REST_21632747_ChIP-Seq_MESCs_Mouse0.97443812
154AUTS2_25519132_ChIP-Seq_293T-REX_Human0.96998543
155NANOG_19829295_ChIP-Seq_ESCs_Human0.96811931
156SOX2_19829295_ChIP-Seq_ESCs_Human0.96811931
157STAT3_23295773_ChIP-Seq_U87_Human0.96789852
158TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96623121
159YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96520855
160P300_19829295_ChIP-Seq_ESCs_Human0.96285569
161CEBPB_22108803_ChIP-Seq_LS180_Human0.94788229
162CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.93504589
163CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.93330968
164RUNX1_22412390_ChIP-Seq_EML_Mouse0.92924365
165MYB_26560356_Chip-Seq_TH1_Human0.92835813
166SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.91850795
167* RXR_22158963_ChIP-Seq_LIVER_Mouse0.90996225
168* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90236789
169IRF8_22096565_ChIP-ChIP_GC-B_Human0.90044055
170BRD4_27068464_Chip-Seq_AML-cells_Mouse0.89497125
171GATA3_26560356_Chip-Seq_TH1_Human0.88598889
172UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.88536611
173PRDM14_20953172_ChIP-Seq_ESCs_Human0.87723762
174GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.87494641

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.26946635
2MP0003111_abnormal_nucleus_morphology3.33112520
3MP0005084_abnormal_gallbladder_morpholo3.10247607
4MP0004957_abnormal_blastocyst_morpholog2.99474167
5MP0003195_calcinosis2.88754251
6MP0003656_abnormal_erythrocyte_physiolo2.85214646
7MP0009840_abnormal_foam_cell2.69620158
8MP0003077_abnormal_cell_cycle2.62316056
9MP0010094_abnormal_chromosome_stability2.62039122
10MP0008875_abnormal_xenobiotic_pharmacok2.45283333
11MP0002396_abnormal_hematopoietic_system2.30733340
12MP0005645_abnormal_hypothalamus_physiol2.25100263
13MP0004147_increased_porphyrin_level2.24188681
14MP0008877_abnormal_DNA_methylation2.22441739
15MP0004133_heterotaxia2.22067523
16MP0005397_hematopoietic_system_phenotyp2.10223377
17MP0001545_abnormal_hematopoietic_system2.10223377
18MP0001968_abnormal_touch/_nociception2.04846810
19MP0002876_abnormal_thyroid_physiology2.01705845
20MP0002736_abnormal_nociception_after2.00535492
21MP0008872_abnormal_physiological_respon1.99906135
22MP0005646_abnormal_pituitary_gland1.98679715
23MP0008995_early_reproductive_senescence1.96607658
24MP0010352_gastrointestinal_tract_polyps1.94252926
25MP0002102_abnormal_ear_morphology1.91988212
26MP0008007_abnormal_cellular_replicative1.87964054
27MP0000490_abnormal_crypts_of1.83993316
28MP0008961_abnormal_basal_metabolism1.82871516
29MP0008058_abnormal_DNA_repair1.82643077
30MP0002653_abnormal_ependyma_morphology1.80337646
31MP0003136_yellow_coat_color1.78755008
32MP0005551_abnormal_eye_electrophysiolog1.76076926
33MP0009046_muscle_twitch1.72111064
34MP0006054_spinal_hemorrhage1.69986048
35MP0001986_abnormal_taste_sensitivity1.69415018
36MP0009333_abnormal_splenocyte_physiolog1.67590931
37MP0002132_abnormal_respiratory_system1.66835726
38MP0003252_abnormal_bile_duct1.66114565
39MP0004043_abnormal_pH_regulation1.65951951
40MP0003718_maternal_effect1.63181979
41MP0006292_abnormal_olfactory_placode1.61346640
42MP0003806_abnormal_nucleotide_metabolis1.60913911
43MP0001730_embryonic_growth_arrest1.59307810
44MP0002928_abnormal_bile_duct1.58238689
45MP0004808_abnormal_hematopoietic_stem1.55487177
46MP0003011_delayed_dark_adaptation1.54343049
47MP0008057_abnormal_DNA_replication1.47939093
48MP0000465_gastrointestinal_hemorrhage1.46597369
49MP0000350_abnormal_cell_proliferation1.43907483
50MP0002638_abnormal_pupillary_reflex1.41335775
51MP0003763_abnormal_thymus_physiology1.38876485
52MP0000685_abnormal_immune_system1.38777576
53MP0002398_abnormal_bone_marrow1.38687255
54MP0001529_abnormal_vocalization1.38455596
55MP0008932_abnormal_embryonic_tissue1.38310892
56MP0002722_abnormal_immune_system1.36033673
57MP0008260_abnormal_autophagy1.33962974
58MP0003191_abnormal_cellular_cholesterol1.33425612
59MP0004142_abnormal_muscle_tone1.32977969
60MP0005253_abnormal_eye_physiology1.30821624
61MP0000689_abnormal_spleen_morphology1.30605703
62MP0002019_abnormal_tumor_incidence1.28447533
63MP0003186_abnormal_redox_activity1.28250686
64MP0003786_premature_aging1.25420811
65MP0009764_decreased_sensitivity_to1.24810009
66MP0005464_abnormal_platelet_physiology1.22233568
67MP0005380_embryogenesis_phenotype1.22102581
68MP0001672_abnormal_embryogenesis/_devel1.22102581
69MP0005332_abnormal_amino_acid1.20825207
70MP0003646_muscle_fatigue1.18921545
71MP0001764_abnormal_homeostasis1.18892770
72MP0000631_abnormal_neuroendocrine_gland1.18667889
73MP0002080_prenatal_lethality1.18562010
74MP0003984_embryonic_growth_retardation1.18458648
75MP0000372_irregular_coat_pigmentation1.18201089
76MP0006072_abnormal_retinal_apoptosis1.18171007
77MP0002095_abnormal_skin_pigmentation1.17960419
78MP0000313_abnormal_cell_death1.17342819
79MP0001697_abnormal_embryo_size1.16701103
80MP0010307_abnormal_tumor_latency1.16310538
81MP0002429_abnormal_blood_cell1.15575071
82MP0002088_abnormal_embryonic_growth/wei1.15341057
83MP0009745_abnormal_behavioral_response1.15075101
84MP0005365_abnormal_bile_salt1.13269364
85MP0005671_abnormal_response_to1.12442444
86MP0009278_abnormal_bone_marrow1.12314465
87MP0001853_heart_inflammation1.11653127
88MP0002938_white_spotting1.09030976
89MP0002086_abnormal_extraembryonic_tissu1.08444608
90MP0006276_abnormal_autonomic_nervous1.07478967
91MP0004264_abnormal_extraembryonic_tissu1.07389786
92MP0002735_abnormal_chemical_nociception1.05098085
93MP0000703_abnormal_thymus_morphology1.04320792
94MP0005451_abnormal_body_composition1.04314254
95MP0005058_abnormal_lysosome_morphology1.02583626
96MP0001835_abnormal_antigen_presentation1.02557516
97MP0002277_abnormal_respiratory_mucosa1.02151858
98MP0001873_stomach_inflammation1.01747541
99* MP0000609_abnormal_liver_physiology1.01122206
100MP0000716_abnormal_immune_system0.99997713
101MP0001664_abnormal_digestion0.99573276
102MP0010155_abnormal_intestine_physiology0.99211924
103MP0001270_distended_abdomen0.98908242
104MP0003567_abnormal_fetal_cardiomyocyte0.98735709
105MP0000598_abnormal_liver_morphology0.98694963
106MP0001501_abnormal_sleep_pattern0.98431933
107MP0005023_abnormal_wound_healing0.97894981
108MP0003436_decreased_susceptibility_to0.97508761
109MP0002405_respiratory_system_inflammati0.97328118
110MP0002139_abnormal_hepatobiliary_system0.95497912
111MP0003698_abnormal_male_reproductive0.95497463
112MP0001929_abnormal_gametogenesis0.95081104
113MP0005410_abnormal_fertilization0.94716670
114MP0001915_intracranial_hemorrhage0.94479548
115MP0001984_abnormal_olfaction0.94023916
116MP0005075_abnormal_melanosome_morpholog0.93081164
117MP0003866_abnormal_defecation0.92630240
118MP0005220_abnormal_exocrine_pancreas0.92516396
119MP0005319_abnormal_enzyme/_coenzyme0.92378071
120MP0001800_abnormal_humoral_immune0.92063333
121MP0002733_abnormal_thermal_nociception0.91282425
122MP0002452_abnormal_antigen_presenting0.91254676
123MP0005360_urolithiasis0.91096943
124MP0002420_abnormal_adaptive_immunity0.90970900
125MP0001905_abnormal_dopamine_level0.90778114
126MP0001819_abnormal_immune_cell0.90697163
127MP0002138_abnormal_hepatobiliary_system0.90348267
128MP0005083_abnormal_biliary_tract0.89078608
129MP0005085_abnormal_gallbladder_physiolo0.88176377
130MP0002210_abnormal_sex_determination0.88082703
131MP0008789_abnormal_olfactory_epithelium0.86951932
132MP0009643_abnormal_urine_homeostasis0.86465249
133MP0000858_altered_metastatic_potential0.86428421
134MP0010368_abnormal_lymphatic_system0.85987908
135MP0005636_abnormal_mineral_homeostasis0.85909817
136MP0005025_abnormal_response_to0.85084615
137MP0004947_skin_inflammation0.83449148
138MP0002751_abnormal_autonomic_nervous0.83305782
139MP0002272_abnormal_nervous_system0.83202224
140* MP0002723_abnormal_immune_serum0.82950278
141MP0006036_abnormal_mitochondrial_physio0.82650823
142MP0004019_abnormal_vitamin_homeostasis0.81940456
143MP0005187_abnormal_penis_morphology0.81437529
144MP0000358_abnormal_cell_content/0.80996390
145MP0002166_altered_tumor_susceptibility0.80958737
146MP0000477_abnormal_intestine_morphology0.80772171
147MP0002160_abnormal_reproductive_system0.80690143
148MP0005174_abnormal_tail_pigmentation0.80296714
149MP0003221_abnormal_cardiomyocyte_apopto0.80047409
150MP0003828_pulmonary_edema0.79666328
151MP0003705_abnormal_hypodermis_morpholog0.79183453
152MP0005310_abnormal_salivary_gland0.78935635
153MP0000015_abnormal_ear_pigmentation0.78928890
154* MP0008469_abnormal_protein_level0.78073533
155MP0004130_abnormal_muscle_cell0.77722267
156MP0001970_abnormal_pain_threshold0.77582526
157MP0005389_reproductive_system_phenotype0.77191658
158MP0003878_abnormal_ear_physiology0.75728376
159MP0005377_hearing/vestibular/ear_phenot0.75728376
160MP0010329_abnormal_lipoprotein_level0.75715435
161MP0001502_abnormal_circadian_rhythm0.75542395
162MP0009785_altered_susceptibility_to0.74941235
163MP0002085_abnormal_embryonic_tissue0.74872823
164MP0003566_abnormal_cell_adhesion0.74551969
165MP0001845_abnormal_inflammatory_respons0.74518286
166MP0002229_neurodegeneration0.73476805
167MP0002572_abnormal_emotion/affect_behav0.73255210
168MP0004742_abnormal_vestibular_system0.73162100
169MP0004145_abnormal_muscle_electrophysio0.72809489
170* MP0005448_abnormal_energy_balance0.72348589
171MP0005387_immune_system_phenotype0.72020103
172MP0001790_abnormal_immune_system0.72020103
173MP0004885_abnormal_endolymph0.71932994
174MP0003119_abnormal_digestive_system0.70968998
175MP0002557_abnormal_social/conspecific_i0.70248102
176MP0000026_abnormal_inner_ear0.70176575
177MP0000653_abnormal_sex_gland0.69878521
178MP0003724_increased_susceptibility_to0.69306549
179MP0000538_abnormal_urinary_bladder0.68733358
180MP0003890_abnormal_embryonic-extraembry0.68698354
181MP0000383_abnormal_hair_follicle0.68611317
182MP0002067_abnormal_sensory_capabilities0.67742334
183MP0001919_abnormal_reproductive_system0.67593407

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the heme biosynthetic pathway (HP:0010472)4.96959414
2Pancreatic cysts (HP:0001737)4.15793448
3Petechiae (HP:0000967)4.10436169
4Birth length less than 3rd percentile (HP:0003561)4.03067951
5Poikilocytosis (HP:0004447)3.84032195
6Molar tooth sign on MRI (HP:0002419)3.81278079
7Abnormality of midbrain morphology (HP:0002418)3.81278079
8True hermaphroditism (HP:0010459)3.66665882
9Polycythemia (HP:0001901)3.58219829
10Abnormal number of erythroid precursors (HP:0012131)3.55838169
11Pancreatic fibrosis (HP:0100732)3.50388124
12Abnormality of cells of the erythroid lineage (HP:0012130)3.48116475
13Type II lissencephaly (HP:0007260)3.36658643
14Breast hypoplasia (HP:0003187)3.21599401
15Multiple enchondromatosis (HP:0005701)3.12390871
16Nephronophthisis (HP:0000090)3.11736326
17Pustule (HP:0200039)3.10630132
18Microretrognathia (HP:0000308)3.06256650
19Attenuation of retinal blood vessels (HP:0007843)3.01203852
20Retinal dysplasia (HP:0007973)2.95400319
21Aplastic anemia (HP:0001915)2.94356482
22IgM deficiency (HP:0002850)2.82756749
23Polyuria (HP:0000103)2.82729905
24Reticulocytosis (HP:0001923)2.80382403
25Absent rod-and cone-mediated responses on ERG (HP:0007688)2.79585768
26Acanthocytosis (HP:0001927)2.77679840
27Degeneration of anterior horn cells (HP:0002398)2.77239648
28Abnormality of the anterior horn cell (HP:0006802)2.77239648
29Methylmalonic acidemia (HP:0002912)2.76272121
30Abnormality of the renal medulla (HP:0100957)2.74260220
31Oral leukoplakia (HP:0002745)2.71675897
32Chronic hepatic failure (HP:0100626)2.67014423
33Abnormality of reticulocytes (HP:0004312)2.66733952
34Abolished electroretinogram (ERG) (HP:0000550)2.62728482
35Bile duct proliferation (HP:0001408)2.61734312
36Abnormal biliary tract physiology (HP:0012439)2.61734312
373-Methylglutaconic aciduria (HP:0003535)2.60022914
38Methylmalonic aciduria (HP:0012120)2.57559282
39Cystic liver disease (HP:0006706)2.55748338
40Rough bone trabeculation (HP:0100670)2.55490513
41Large for gestational age (HP:0001520)2.53277469
42Amelogenesis imperfecta (HP:0000705)2.50877476
43Lissencephaly (HP:0001339)2.48866493
44Pendular nystagmus (HP:0012043)2.48452199
45Entropion (HP:0000621)2.48404914
46Reticulocytopenia (HP:0001896)2.42470039
47Carpal bone hypoplasia (HP:0001498)2.41411372
48Abnormal platelet function (HP:0011869)2.39816467
49Impaired platelet aggregation (HP:0003540)2.39816467
50Prolonged bleeding time (HP:0003010)2.39357930
51Abnormality of the renal cortex (HP:0011035)2.36195849
52Decreased electroretinogram (ERG) amplitude (HP:0000654)2.35890123
53Posterior subcapsular cataract (HP:0007787)2.34594590
54Congenital stationary night blindness (HP:0007642)2.34308484
55Macrocytic anemia (HP:0001972)2.33944727
56Microcytic anemia (HP:0001935)2.31726746
57Sclerocornea (HP:0000647)2.30810944
58Medial flaring of the eyebrow (HP:0010747)2.30457919
59Abnormal urine output (HP:0012590)2.29751326
60Cerebellar dysplasia (HP:0007033)2.21357625
61Patellar aplasia (HP:0006443)2.19645943
62Inability to walk (HP:0002540)2.19354723
63Premature ovarian failure (HP:0008209)2.19193055
64Hyperbilirubinemia (HP:0002904)2.19071946
65Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.18059787
66Metabolic alkalosis (HP:0200114)2.17641773
67Pallor (HP:0000980)2.15868279
68Secondary amenorrhea (HP:0000869)2.15221641
69Abnormal rod and cone electroretinograms (HP:0008323)2.14387759
70Polydipsia (HP:0001959)2.12979496
71Abnormal drinking behavior (HP:0030082)2.12979496
72Increased serum ferritin (HP:0003281)2.12384036
73Nausea (HP:0002018)2.11975309
74Aplasia/Hypoplasia of the patella (HP:0006498)2.11656479
75Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.10979924
76Abnormality of alanine metabolism (HP:0010916)2.10979924
77Hyperalaninemia (HP:0003348)2.10979924
78Bony spicule pigmentary retinopathy (HP:0007737)2.10161954
79Interstitial pulmonary disease (HP:0006530)2.10035725
80Progressive muscle weakness (HP:0003323)2.09733666
81Nephrogenic diabetes insipidus (HP:0009806)2.03368815
82Prominent nose (HP:0000448)2.03084517
83Short middle phalanx of the 5th finger (HP:0004220)2.02366912
84Hyperglycinuria (HP:0003108)2.01992006
85Gout (HP:0001997)2.01817606
86Abnormal respiratory epithelium morphology (HP:0012253)2.00999622
87Abnormal respiratory motile cilium morphology (HP:0005938)2.00999622
88Panhypogammaglobulinemia (HP:0003139)2.00654905
89Male pseudohermaphroditism (HP:0000037)1.99264730
90Pigmentary retinal degeneration (HP:0001146)1.98748043
91Dicarboxylic aciduria (HP:0003215)1.98529724
92Abnormality of dicarboxylic acid metabolism (HP:0010995)1.98529724
93Decreased central vision (HP:0007663)1.98379668
94Dynein arm defect of respiratory motile cilia (HP:0012255)1.97770130
95Absent/shortened dynein arms (HP:0200106)1.97770130
96Myelodysplasia (HP:0002863)1.96821301
97Abnormality of the umbilical cord (HP:0010881)1.96815056
98Abnormality of the vitamin B12 metabolism (HP:0004341)1.96786694
99Genetic anticipation (HP:0003743)1.96583953
100Hyperglycinemia (HP:0002154)1.96221527
101Trismus (HP:0000211)1.96205730
102Concave nail (HP:0001598)1.95908465
103Rhinitis (HP:0012384)1.95783373
104Impulsivity (HP:0100710)1.95434387
105Congenital primary aphakia (HP:0007707)1.94704799
106Furrowed tongue (HP:0000221)1.94658325
107Nonimmune hydrops fetalis (HP:0001790)1.94437293
108Abnormality of renal excretion (HP:0011036)1.94330224
109Abnormal respiratory motile cilium physiology (HP:0012261)1.93783100
110Anencephaly (HP:0002323)1.93573163
111Gait imbalance (HP:0002141)1.92631242
112Hyperventilation (HP:0002883)1.91913748
113Selective tooth agenesis (HP:0001592)1.91138957
114Abnormality of DNA repair (HP:0003254)1.90640565
115Abnormality of dental color (HP:0011073)1.89708765
116Poor head control (HP:0002421)1.8959701
117Tachypnea (HP:0002789)1.89589331
118Colon cancer (HP:0003003)1.89410971
119Abnormality of T cell physiology (HP:0011840)1.89234624
120Bone marrow hypocellularity (HP:0005528)1.89143150
121Abnormality of iron homeostasis (HP:0011031)1.87031812
122Abnormality of vitamin B metabolism (HP:0004340)1.86775712
123Aplasia/Hypoplasia of the uvula (HP:0010293)1.86152776
124Congenital, generalized hypertrichosis (HP:0004540)1.86074044
125Epistaxis (HP:0000421)1.85859139
126Abnormality of transition element cation homeostasis (HP:0011030)1.85732943
127Congenital hepatic fibrosis (HP:0002612)1.85080622
128Abnormality of the pons (HP:0007361)1.84188298
129Decreased circulating renin level (HP:0003351)1.84007859
130Abnormality of fatty-acid metabolism (HP:0004359)1.83793059
131Increased CSF lactate (HP:0002490)1.83530135
132Tubular atrophy (HP:0000092)1.83342989
133Thrombocytosis (HP:0001894)1.82387514
134Optic disc pallor (HP:0000543)1.81633050
135Brushfield spots (HP:0001088)1.81062533
136Death in infancy (HP:0001522)1.80493311
137Abnormality of chromosome stability (HP:0003220)1.78465544
138Personality changes (HP:0000751)1.78036490
139Reduced antithrombin III activity (HP:0001976)1.77825578
140Cerebral hypomyelination (HP:0006808)1.76645298
141Generalized aminoaciduria (HP:0002909)1.76603390
142Mitochondrial inheritance (HP:0001427)1.76125005
143Ketosis (HP:0001946)1.75640109
144Chorioretinal atrophy (HP:0000533)1.75250498
145Megaloblastic anemia (HP:0001889)1.74796539
146Lymphoma (HP:0002665)1.74549992
147Neoplasm of the pancreas (HP:0002894)1.74238838
148Abnormal trabecular bone morphology (HP:0100671)1.73885204
149Abnormality of the preputium (HP:0100587)1.72985748
150Cutaneous photosensitivity (HP:0000992)1.72876565
151Hypoplasia of the pons (HP:0012110)1.72664091
152Reduced subcutaneous adipose tissue (HP:0003758)1.72586114
153Abnormality of homocysteine metabolism (HP:0010919)1.72355329
154Homocystinuria (HP:0002156)1.72355329
155Progressive inability to walk (HP:0002505)1.72334408
156Abnormal ciliary motility (HP:0012262)1.70999565
157Absent thumb (HP:0009777)1.70677938
158Abnormality of pyrimidine metabolism (HP:0004353)1.69590571
159Basal cell carcinoma (HP:0002671)1.68840037
160Stomach cancer (HP:0012126)1.68730069
161Abnormality of serum amino acid levels (HP:0003112)1.68585358
162Abnormality of glycine metabolism (HP:0010895)1.68451854
163Abnormality of serine family amino acid metabolism (HP:0010894)1.68451854
164Cerebral palsy (HP:0100021)1.68259154
165Occipital encephalocele (HP:0002085)1.68057660
166Oculomotor apraxia (HP:0000657)1.67999007
167Abnormality of the fingertips (HP:0001211)1.67917264
168Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.67271875
169Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.67218870
170Decreased activity of mitochondrial respiratory chain (HP:0008972)1.67218870
171Ureteral duplication (HP:0000073)1.67163849
172Acute necrotizing encephalopathy (HP:0006965)1.67079019
173Aplasia/Hypoplasia of the tongue (HP:0010295)1.66325927
174Abnormal cartilage morphology (HP:0002763)1.66234897
175Poikiloderma (HP:0001029)1.65890723
176Alkalosis (HP:0001948)1.65560624
177Progressive microcephaly (HP:0000253)1.65547129
178Ileus (HP:0002595)1.65514500
179Hepatocellular necrosis (HP:0001404)1.65348795
180Acute encephalopathy (HP:0006846)1.65127296
181Prolonged neonatal jaundice (HP:0006579)1.62310173
182Squamous cell carcinoma (HP:0002860)1.62063919
183Small intestinal stenosis (HP:0012848)1.59518295
184Duodenal stenosis (HP:0100867)1.59518295
185Anorexia (HP:0002039)1.57695820
186Cellular immunodeficiency (HP:0005374)1.56375383

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.12579591
2FRK4.00599192
3EIF2AK13.90768726
4BMPR1B3.37562569
5ADRBK23.28352462
6WEE13.20862738
7NEK22.67879841
8WNK32.65741894
9NME22.64389258
10MAP4K22.58192057
11KDR2.52260375
12NTRK22.22680591
13MAP4K12.16498454
14INSRR2.07939848
15EPHA22.07674426
16BRSK21.97848965
17WNK41.96438743
18CDC71.94684321
19STK101.88918225
20RPS6KA41.83003733
21PINK11.80694633
22TTK1.74835622
23RIPK41.73918701
24DYRK31.73507810
25ACVR1B1.72587799
26TRIB31.65859489
27OXSR11.65725303
28NUAK11.64028226
29TXK1.62300028
30ERN11.58384767
31MAP3K41.55695399
32EIF2AK31.55288309
33MAP2K71.53063048
34MAPK131.50352353
35TAOK31.49078925
36ZAP701.48939747
37TSSK61.47650620
38MAP3K101.47080895
39NEK11.45766596
40PIM21.44161156
41CASK1.40287650
42TESK21.39212083
43RPS6KA51.39097450
44MAPK151.36493097
45CDK41.33442747
46PKN21.32394931
47MAP2K31.32104300
48AURKB1.31701902
49CDK191.30725321
50PAK41.29982293
51PLK41.29106100
52PLK11.28159675
53MAP3K81.27733048
54ADRBK11.26635978
55TGFBR21.25088991
56MAP3K111.23585767
57TRIM281.21269430
58BCKDK1.20979800
59LRRK21.17196444
60TYK21.17159674
61STK161.17120812
62CDK71.15441531
63BRSK11.15110945
64STK41.13982094
65BCR1.13465068
66PIM11.13447755
67BMPR21.10811642
68RPS6KB21.09788502
69DAPK21.07794998
70FLT31.05040867
71MAP3K31.04304786
72SCYL21.03998172
73IRAK11.03208463
74EEF2K0.93772434
75ATR0.92280151
76AURKA0.92253819
77DYRK20.91578290
78SIK20.90202047
79EPHA30.88394653
80TIE10.87640996
81TBK10.87304227
82BTK0.87079380
83TGFBR10.86727773
84IRAK30.86606506
85CHEK20.84183197
86MAPKAPK30.84103994
87TAOK10.83685455
88CCNB10.82242574
89MAP2K60.81680726
90VRK10.80495157
91STK30.78882512
92MKNK20.78873166
93SYK0.76170595
94NEK90.76029960
95STK240.72544937
96PRKCQ0.70707393
97IRAK40.68966646
98MAP2K20.68920753
99CDK60.68749975
100ZAK0.68542901
101KIT0.68171635
102FGFR40.68118266
103MAP2K10.68062337
104PIK3CA0.68014128
105DYRK1B0.67884702
106PASK0.67807629
107SRPK10.67638080
108GRK10.65821869
109MAPK110.65137292
110LYN0.62383955
111JAK30.61703645
112TEC0.60219074
113PTK2B0.59383907
114PRKCI0.59140551
115CSF1R0.59012254
116BLK0.57110599
117CHEK10.55691346
118GRK60.53087270
119BRAF0.52134435
120IKBKB0.51435502
121MATK0.50837252
122PRKCG0.50776781
123NLK0.49103293
124TNK20.48444676
125MARK30.48319182
126CDK80.47820582
127NTRK30.47572874
128MOS0.47542570
129PLK30.46682466
130PAK30.46581299
131CHUK0.44669941
132PAK10.44664995
133MKNK10.44257110
134PKN10.44244724
135PTK60.43387837
136NME10.42936395
137CSNK1G30.41727093
138IKBKE0.41418839
139VRK20.41107627
140CSNK1A10.39942208
141CDK20.39192873
142PRKCE0.38975713
143EIF2AK20.38544762
144RAF10.37786306
145CAMKK20.37680505
146FES0.37612487
147MELK0.37469190
148TLK10.37437672
149CSNK2A10.37273455
150MAP3K50.35714363
151TAOK20.35568288
152JAK20.35248643
153PRKACA0.35192747
154RPS6KA60.34474465
155STK390.33815751
156EPHA40.32817652
157ABL10.32401909
158PDK20.32380038
159CSNK1G10.29899465

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.89829407
2Mismatch repair_Homo sapiens_hsa034302.91988709
3Proteasome_Homo sapiens_hsa030502.84382713
4Nitrogen metabolism_Homo sapiens_hsa009102.80390933
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.79206099
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.74381269
7Vitamin B6 metabolism_Homo sapiens_hsa007502.67526156
8Linoleic acid metabolism_Homo sapiens_hsa005912.60781692
9RNA polymerase_Homo sapiens_hsa030202.58115138
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.54496690
11Base excision repair_Homo sapiens_hsa034102.51808149
12Ribosome_Homo sapiens_hsa030102.42401683
13RNA transport_Homo sapiens_hsa030132.34942369
14Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.31899432
15Butanoate metabolism_Homo sapiens_hsa006502.31359682
16Spliceosome_Homo sapiens_hsa030402.29891031
17Folate biosynthesis_Homo sapiens_hsa007902.29725432
18Pyrimidine metabolism_Homo sapiens_hsa002402.24702413
19Cell cycle_Homo sapiens_hsa041102.22493746
20Homologous recombination_Homo sapiens_hsa034402.08838787
21Nucleotide excision repair_Homo sapiens_hsa034202.07407189
22Olfactory transduction_Homo sapiens_hsa047401.91078159
23Tryptophan metabolism_Homo sapiens_hsa003801.87117579
24Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.82593236
25One carbon pool by folate_Homo sapiens_hsa006701.79040515
26Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.78904454
27Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.78694729
28Oxidative phosphorylation_Homo sapiens_hsa001901.77920135
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.73102742
30Sulfur relay system_Homo sapiens_hsa041221.69697675
31Ether lipid metabolism_Homo sapiens_hsa005651.68760714
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.66573513
33Pentose phosphate pathway_Homo sapiens_hsa000301.62392031
34p53 signaling pathway_Homo sapiens_hsa041151.62291268
35Drug metabolism - other enzymes_Homo sapiens_hsa009831.55300536
36Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.51222457
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.46098846
38Collecting duct acid secretion_Homo sapiens_hsa049661.43747683
39Parkinsons disease_Homo sapiens_hsa050121.36599697
40RNA degradation_Homo sapiens_hsa030181.36511537
41Selenocompound metabolism_Homo sapiens_hsa004501.35621033
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.30815923
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.28353207
44Caffeine metabolism_Homo sapiens_hsa002321.27793743
45Basal transcription factors_Homo sapiens_hsa030221.27214659
46Propanoate metabolism_Homo sapiens_hsa006401.23760567
47Asthma_Homo sapiens_hsa053101.22299917
48Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.20550981
49Regulation of autophagy_Homo sapiens_hsa041401.18212861
50Fanconi anemia pathway_Homo sapiens_hsa034601.17548301
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.17140453
52Purine metabolism_Homo sapiens_hsa002301.16897856
53Biosynthesis of amino acids_Homo sapiens_hsa012301.15532315
54Arachidonic acid metabolism_Homo sapiens_hsa005901.15015229
55Steroid hormone biosynthesis_Homo sapiens_hsa001401.13180966
56Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.12448068
57Sulfur metabolism_Homo sapiens_hsa009201.11249973
58Taste transduction_Homo sapiens_hsa047421.10260342
59Chemical carcinogenesis_Homo sapiens_hsa052041.08603307
602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.08579088
61Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04820590
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.03161726
63beta-Alanine metabolism_Homo sapiens_hsa004100.96828515
64Herpes simplex infection_Homo sapiens_hsa051680.96683750
65Antigen processing and presentation_Homo sapiens_hsa046120.95012995
66Non-homologous end-joining_Homo sapiens_hsa034500.93874552
67Epstein-Barr virus infection_Homo sapiens_hsa051690.93330577
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92023962
69Carbon metabolism_Homo sapiens_hsa012000.89639356
70Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.86659570
71Legionellosis_Homo sapiens_hsa051340.86364804
72Histidine metabolism_Homo sapiens_hsa003400.86019593
73Phototransduction_Homo sapiens_hsa047440.84576294
74Huntingtons disease_Homo sapiens_hsa050160.84483795
75Fructose and mannose metabolism_Homo sapiens_hsa000510.83789477
76mRNA surveillance pathway_Homo sapiens_hsa030150.83424252
77Nicotine addiction_Homo sapiens_hsa050330.82742178
78Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.82056239
79Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.78325898
80Ovarian steroidogenesis_Homo sapiens_hsa049130.77933213
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.77728817
82Glutathione metabolism_Homo sapiens_hsa004800.77597413
83Galactose metabolism_Homo sapiens_hsa000520.76354136
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.76192275
85Primary immunodeficiency_Homo sapiens_hsa053400.75865684
86Autoimmune thyroid disease_Homo sapiens_hsa053200.75294464
87Small cell lung cancer_Homo sapiens_hsa052220.71406633
88Allograft rejection_Homo sapiens_hsa053300.71220960
89Apoptosis_Homo sapiens_hsa042100.70343936
90Hematopoietic cell lineage_Homo sapiens_hsa046400.70277212
91Vitamin digestion and absorption_Homo sapiens_hsa049770.68944743
92Graft-versus-host disease_Homo sapiens_hsa053320.68464413
93Viral carcinogenesis_Homo sapiens_hsa052030.66728721
94Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65858210
95Measles_Homo sapiens_hsa051620.65219257
96Thyroid cancer_Homo sapiens_hsa052160.65051663
97Morphine addiction_Homo sapiens_hsa050320.64209833
98Pentose and glucuronate interconversions_Homo sapiens_hsa000400.63408584
99Protein export_Homo sapiens_hsa030600.62318320
100Systemic lupus erythematosus_Homo sapiens_hsa053220.61930847
101Other glycan degradation_Homo sapiens_hsa005110.61392166
102Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.60270245
103Glycerolipid metabolism_Homo sapiens_hsa005610.59933180
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.56203981
105Intestinal immune network for IgA production_Homo sapiens_hsa046720.55558253
106HTLV-I infection_Homo sapiens_hsa051660.55467393
107Type I diabetes mellitus_Homo sapiens_hsa049400.55010364
108Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.54618027
109Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.53700876
110Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53664841
111Maturity onset diabetes of the young_Homo sapiens_hsa049500.52991041
112NF-kappa B signaling pathway_Homo sapiens_hsa040640.51970743
113Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.51486898
114Rheumatoid arthritis_Homo sapiens_hsa053230.50571073
115Pyruvate metabolism_Homo sapiens_hsa006200.48749963
116Bladder cancer_Homo sapiens_hsa052190.46529041
117Alzheimers disease_Homo sapiens_hsa050100.45929601
118Fatty acid elongation_Homo sapiens_hsa000620.45872197
119Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.45868400
120Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45701585
121Staphylococcus aureus infection_Homo sapiens_hsa051500.44640451
122Acute myeloid leukemia_Homo sapiens_hsa052210.44264583
123Glycerophospholipid metabolism_Homo sapiens_hsa005640.43678167
124Fatty acid degradation_Homo sapiens_hsa000710.42784586
125Lysosome_Homo sapiens_hsa041420.41627065
126Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.41157315
127GABAergic synapse_Homo sapiens_hsa047270.40745346
128N-Glycan biosynthesis_Homo sapiens_hsa005100.40511236
129Tyrosine metabolism_Homo sapiens_hsa003500.40242894
130Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.39580372
131Transcriptional misregulation in cancer_Homo sapiens_hsa052020.38699462
132* Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.38590415
133Shigellosis_Homo sapiens_hsa051310.38548257
134Phenylalanine metabolism_Homo sapiens_hsa003600.38329067
135Influenza A_Homo sapiens_hsa051640.38057403
136Fatty acid metabolism_Homo sapiens_hsa012120.38024523
137Serotonergic synapse_Homo sapiens_hsa047260.37900559
138Chronic myeloid leukemia_Homo sapiens_hsa052200.37511570
139Metabolic pathways_Homo sapiens_hsa011000.37270817
140Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36590722
141Peroxisome_Homo sapiens_hsa041460.36588961
142Arginine and proline metabolism_Homo sapiens_hsa003300.36569584
143Hepatitis B_Homo sapiens_hsa051610.35304137
144ABC transporters_Homo sapiens_hsa020100.35279655
145Leishmaniasis_Homo sapiens_hsa051400.35203125
146Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34956224
147Glycosaminoglycan degradation_Homo sapiens_hsa005310.31848920
148Toxoplasmosis_Homo sapiens_hsa051450.31321110
149RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.30542735
150Primary bile acid biosynthesis_Homo sapiens_hsa001200.27571429
151Oocyte meiosis_Homo sapiens_hsa041140.27066069
152Fat digestion and absorption_Homo sapiens_hsa049750.26443596
153Retinol metabolism_Homo sapiens_hsa008300.25896540

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