ATG4B

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: Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1purine nucleobase biosynthetic process (GO:0009113)5.84525319
2proteasome assembly (GO:0043248)5.58132771
3nucleobase biosynthetic process (GO:0046112)5.29268947
4ribosome assembly (GO:0042255)5.05915933
5positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.78197473
6anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.73431260
7negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.71157141
8folic acid metabolic process (GO:0046655)4.62050403
9regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.61885534
10L-methionine salvage (GO:0071267)4.60388009
11L-methionine biosynthetic process (GO:0071265)4.60388009
12amino acid salvage (GO:0043102)4.60388009
13mannose metabolic process (GO:0006013)4.56128072
14termination of RNA polymerase III transcription (GO:0006386)4.55278764
15transcription elongation from RNA polymerase III promoter (GO:0006385)4.55278764
16folic acid transport (GO:0015884)4.46628471
17DNA deamination (GO:0045006)4.35345463
18formation of translation preinitiation complex (GO:0001731)4.32699226
19positive regulation of ubiquitin-protein transferase activity (GO:0051443)4.22988756
20negative regulation of ligase activity (GO:0051352)4.22611820
21negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.22611820
22ribosome biogenesis (GO:0042254)4.22277429
23maturation of SSU-rRNA (GO:0030490)4.19577346
24regulation of ARF GTPase activity (GO:0032312)4.18987764
25L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.08914082
26regulation of cellular amino acid metabolic process (GO:0006521)4.03097654
277-methylguanosine mRNA capping (GO:0006370)4.02372164
28mitotic metaphase plate congression (GO:0007080)4.01842857
29rRNA modification (GO:0000154)4.01238216
30positive regulation of ligase activity (GO:0051351)4.00955505
31DNA replication checkpoint (GO:0000076)4.00874746
32spliceosomal tri-snRNP complex assembly (GO:0000244)3.96842367
33cullin deneddylation (GO:0010388)3.96562943
34histone H4-K12 acetylation (GO:0043983)3.93990619
357-methylguanosine RNA capping (GO:0009452)3.85577963
36RNA capping (GO:0036260)3.85577963
37spliceosomal snRNP assembly (GO:0000387)3.85392701
38protein retention in ER lumen (GO:0006621)3.83199780
39methionine biosynthetic process (GO:0009086)3.82691141
40regulation of translation in response to stress (GO:0043555)3.77603573
41signal transduction involved in DNA integrity checkpoint (GO:0072401)3.72808343
42signal transduction involved in DNA damage checkpoint (GO:0072422)3.72808343
43protein deneddylation (GO:0000338)3.71931684
44signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.71154102
45signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.71154102
46signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.71154102
47DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.69599100
48signal transduction involved in cell cycle checkpoint (GO:0072395)3.65952901
49COPI coating of Golgi vesicle (GO:0048205)3.65274844
50Golgi transport vesicle coating (GO:0048200)3.65274844
51regulation of ubiquitin-protein transferase activity (GO:0051438)3.64531062
52transcription elongation from RNA polymerase I promoter (GO:0006362)3.63732058
53intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.61645564
54signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.61645564
55termination of RNA polymerase I transcription (GO:0006363)3.58060069
56methionine metabolic process (GO:0006555)3.56797831
57regulation of mitochondrial translation (GO:0070129)3.56495019
58negative regulation of erythrocyte differentiation (GO:0045647)3.56447981
59ribonucleoprotein complex biogenesis (GO:0022613)3.55893548
60transcription from RNA polymerase I promoter (GO:0006360)3.54185785
61maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.51725772
62cell-cell junction maintenance (GO:0045217)3.50735071
63GMP metabolic process (GO:0046037)3.49769448
64activation of MAPKKK activity (GO:0000185)3.48589731
65regulation of ligase activity (GO:0051340)3.48581023
66negative regulation of cell size (GO:0045792)3.46612387
67rRNA processing (GO:0006364)3.43985955
68regulation of spindle organization (GO:0090224)3.43540925
69plasma lipoprotein particle assembly (GO:0034377)3.42415928
70proline biosynthetic process (GO:0006561)3.41420291
71regulation of translational termination (GO:0006449)3.39702408
72retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.39072712
73ribosomal large subunit biogenesis (GO:0042273)3.38134783
74lung-associated mesenchyme development (GO:0060484)3.36764828
75positive regulation of Cdc42 GTPase activity (GO:0043089)3.36556829
76DNA strand elongation (GO:0022616)3.36136344
77DNA strand elongation involved in DNA replication (GO:0006271)3.35630219
78blastocyst development (GO:0001824)3.34990770
79peptidyl-arginine omega-N-methylation (GO:0035247)3.32803832
80protein-lipid complex assembly (GO:0065005)3.32170991
81glucose 6-phosphate metabolic process (GO:0051156)3.31032399
82rRNA metabolic process (GO:0016072)3.30861113
83viral mRNA export from host cell nucleus (GO:0046784)3.30418757
84NIK/NF-kappaB signaling (GO:0038061)3.27909298
85mitotic spindle assembly checkpoint (GO:0007094)3.25773991
86cell junction maintenance (GO:0034331)3.24692588
87deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.24586087
88transcription elongation from RNA polymerase II promoter (GO:0006368)3.23934780
89histone H4 deacetylation (GO:0070933)3.23085897
90sulfur amino acid biosynthetic process (GO:0000097)3.22441981
91modulation by virus of host process (GO:0019054)3.22362285
92DNA-templated transcription, elongation (GO:0006354)3.21826585
93semaphorin-plexin signaling pathway (GO:0071526)3.19353776
94negative regulation of mitotic sister chromatid separation (GO:2000816)3.18261924
95negative regulation of mitotic sister chromatid segregation (GO:0033048)3.18261924
96negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.18261924
97negative regulation of sister chromatid segregation (GO:0033046)3.18261924
98aspartate family amino acid biosynthetic process (GO:0009067)3.17729876
99pseudouridine synthesis (GO:0001522)3.17660572
100apoptotic process involved in morphogenesis (GO:0060561)3.17310882
101G1/S transition of mitotic cell cycle (GO:0000082)3.17179837
102cell cycle G1/S phase transition (GO:0044843)3.17179837
103intracellular estrogen receptor signaling pathway (GO:0030520)3.16692818
104spindle assembly checkpoint (GO:0071173)3.16622520
105negative regulation of chromosome segregation (GO:0051985)3.16341283
106regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.15436482
107mitotic spindle checkpoint (GO:0071174)3.15201662
108regulation of G0 to G1 transition (GO:0070316)3.14989811
109antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.14952402
110spliceosomal complex assembly (GO:0000245)3.14638242
111transcription initiation from RNA polymerase I promoter (GO:0006361)3.14627832
112spindle checkpoint (GO:0031577)3.13926508
113antigen processing and presentation of endogenous antigen (GO:0019883)3.13589208
114proline metabolic process (GO:0006560)3.13558199
115positive regulation of cell cycle arrest (GO:0071158)3.11822098
116antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.11394341
117GDP-mannose metabolic process (GO:0019673)3.11340243
118negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.07451148
119regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.07446703
120antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.07043345
121macrophage activation involved in immune response (GO:0002281)3.06795637
122transcription-coupled nucleotide-excision repair (GO:0006283)3.06334683
123cellular metabolic compound salvage (GO:0043094)3.04920383
124positive regulation of viral transcription (GO:0050434)3.04066602
125positive regulation of synapse maturation (GO:0090129)3.02341443
126regulation of cholesterol homeostasis (GO:2000188)3.02093658
127membrane tubulation (GO:0097320)3.02085150
128negative regulation of DNA-templated transcription, elongation (GO:0032785)3.01006978
129peptidyl-histidine modification (GO:0018202)3.00806842
130mitotic nuclear envelope disassembly (GO:0007077)2.99902560
131activation of Rac GTPase activity (GO:0032863)2.99045523
132negative regulation of translational initiation (GO:0045947)2.98254056
133negative regulation of protein ubiquitination (GO:0031397)2.98212967
134modulation by symbiont of host cellular process (GO:0044068)2.98124419
135protein localization to endosome (GO:0036010)2.97897349
136signal complex assembly (GO:0007172)2.97511157
137CDP-diacylglycerol metabolic process (GO:0046341)2.97429259
138regulation of hydrogen peroxide metabolic process (GO:0010310)2.96554340
139metaphase plate congression (GO:0051310)2.95713034
140protein-cofactor linkage (GO:0018065)2.94631019
141protein localization to kinetochore (GO:0034501)2.94123067
142regulation of mammary gland epithelial cell proliferation (GO:0033599)2.89060613
143regulation of ARF protein signal transduction (GO:0032012)2.88177560
144regulation of cholesterol biosynthetic process (GO:0045540)2.87718901
145very-low-density lipoprotein particle assembly (GO:0034379)2.87619179
146negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.87606406
147response to muramyl dipeptide (GO:0032495)2.87124802
148negative regulation of myeloid cell apoptotic process (GO:0033033)2.86263289
149activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.85860979
150regulation of cholesterol metabolic process (GO:0090181)2.83185878
151diacylglycerol metabolic process (GO:0046339)2.78600924
152negative regulation of viral release from host cell (GO:1902187)2.78349908
153peptidyl-arginine methylation (GO:0018216)2.77549252
154peptidyl-arginine N-methylation (GO:0035246)2.77549252
155layer formation in cerebral cortex (GO:0021819)2.75258728
1563-UTR-mediated mRNA stabilization (GO:0070935)2.75222000
157protein maturation by protein folding (GO:0022417)2.73708597
158histone H3 deacetylation (GO:0070932)2.73368150
159positive regulation of nuclease activity (GO:0032075)2.72871463
160negative regulation of autophagy (GO:0010507)2.71938179
161regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.67747224
162positive regulation of lipoprotein lipase activity (GO:0051006)2.67009817
163positive regulation of triglyceride lipase activity (GO:0061365)2.67009817
164regulation of apoptotic cell clearance (GO:2000425)2.65712929
165positive regulation of histone deacetylation (GO:0031065)2.65429855
166fatty acid elongation (GO:0030497)2.60364270
167regulation of extracellular matrix disassembly (GO:0010715)2.59420617
168histone arginine methylation (GO:0034969)2.58846102
169low-density lipoprotein particle clearance (GO:0034383)2.58152227
170embryonic process involved in female pregnancy (GO:0060136)2.58144213
171protein insertion into membrane (GO:0051205)2.57994618
172barbed-end actin filament capping (GO:0051016)2.57096017
173retrograde transport, endosome to Golgi (GO:0042147)2.55564569
174maternal placenta development (GO:0001893)2.55180975
175snRNA metabolic process (GO:0016073)2.53175646
176regulation of extracellular matrix organization (GO:1903053)2.53113721
177regulation of cholesterol esterification (GO:0010872)2.51205217
178regulation of cholesterol storage (GO:0010885)2.50060254
179modulation by virus of host morphology or physiology (GO:0019048)2.49925925
180regulation of superoxide anion generation (GO:0032928)2.49191017
181thymic T cell selection (GO:0045061)2.48739760
182actin filament polymerization (GO:0030041)2.48304718
183regulation of T-helper 2 cell differentiation (GO:0045628)2.48007038
184mitochondrion transport along microtubule (GO:0047497)2.46729428
185establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.46729428
186planar cell polarity pathway involved in neural tube closure (GO:0090179)2.45664638
187UV protection (GO:0009650)2.45511218
188adherens junction assembly (GO:0034333)2.44970313
189positive regulation of protein dephosphorylation (GO:0035307)2.44966010
190regulation of synapse maturation (GO:0090128)2.44312556
191peptidyl-tyrosine autophosphorylation (GO:0038083)2.43936741
192regulation of nuclease activity (GO:0032069)2.43754413
193establishment of mitochondrion localization (GO:0051654)2.43711007
194positive regulation of extracellular matrix organization (GO:1903055)2.43254885
195mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.42143295
196positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.41626887
197pentose-phosphate shunt (GO:0006098)2.41070252
198leukocyte aggregation (GO:0070486)2.40320426
199negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.39413383
200basement membrane organization (GO:0071711)2.37761072

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.30065108
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.98436631
3* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.96409230
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.93832369
5* ETS1_20019798_ChIP-Seq_JURKAT_Human3.80348850
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.76112569
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.63294201
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.42742952
9EST1_17652178_ChIP-ChIP_JURKAT_Human3.41310155
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.33481188
11E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.13458103
12MYC_18358816_ChIP-ChIP_MESCs_Mouse3.07378857
13LXR_22292898_ChIP-Seq_THP-1_Human3.00279941
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.93440534
15MYC_19079543_ChIP-ChIP_MESCs_Mouse2.91864637
16VDR_21846776_ChIP-Seq_THP-1_Human2.89467992
17FOXM1_23109430_ChIP-Seq_U2OS_Human2.76147530
18HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.75296133
19MYC_19030024_ChIP-ChIP_MESCs_Mouse2.68076530
20MYC_22102868_ChIP-Seq_BL_Human2.51136450
21THAP11_20581084_ChIP-Seq_MESCs_Mouse2.47852877
22XRN2_22483619_ChIP-Seq_HELA_Human2.44533547
23TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.39676853
24TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.39286906
25E2F4_17652178_ChIP-ChIP_JURKAT_Human2.37043937
26MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.34548540
27* VDR_23849224_ChIP-Seq_CD4+_Human2.34109023
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.32304835
29* KDM2B_26808549_Chip-Seq_SUP-B15_Human2.31588309
30* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.29811869
31GABP_19822575_ChIP-Seq_HepG2_Human2.26007622
32ELK3_25401928_ChIP-Seq_HUVEC_Human2.24218585
33NELFA_20434984_ChIP-Seq_ESCs_Mouse2.22301854
34NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.21150480
35YY1_21170310_ChIP-Seq_MESCs_Mouse2.20721782
36FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.17072346
37E2F1_18555785_ChIP-Seq_MESCs_Mouse2.15221953
38* KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.14876512
39RARG_19884340_ChIP-ChIP_MEFs_Mouse2.12357072
40DCP1A_22483619_ChIP-Seq_HELA_Human2.11302999
41NANOG_18555785_ChIP-Seq_MESCs_Mouse2.09431807
42PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.08973533
43CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.08532647
44FOXP3_21729870_ChIP-Seq_TREG_Human2.00166237
45KDM2B_26808549_Chip-Seq_DND41_Human1.98845826
46POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.98512731
47* TCF7_22412390_ChIP-Seq_EML_Mouse1.95558434
48RACK7_27058665_Chip-Seq_MCF-7_Human1.91690083
49AR_21909140_ChIP-Seq_LNCAP_Human1.88229344
50ELF1_17652178_ChIP-ChIP_JURKAT_Human1.87445501
51ZFP281_18757296_ChIP-ChIP_E14_Mouse1.86456431
52P68_20966046_ChIP-Seq_HELA_Human1.85122062
53PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.82902182
54TET1_21451524_ChIP-Seq_MESCs_Mouse1.82279460
55ERG_21242973_ChIP-ChIP_JURKAT_Human1.78661363
56MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.76715408
57TTF2_22483619_ChIP-Seq_HELA_Human1.76400674
58* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.76365324
59CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.75463404
60DNAJC2_21179169_ChIP-ChIP_NT2_Human1.71254880
61SRF_21415370_ChIP-Seq_HL-1_Mouse1.70871330
62KDM2B_26808549_Chip-Seq_K562_Human1.69648181
63MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.68543042
64ELF1_20517297_ChIP-Seq_JURKAT_Human1.68020183
65KDM5A_27292631_Chip-Seq_BREAST_Human1.67155800
66SA1_27219007_Chip-Seq_ERYTHROID_Human1.65968344
67SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.65063804
68* CIITA_25753668_ChIP-Seq_RAJI_Human1.64920224
69EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.64192010
70SMC4_20622854_ChIP-Seq_HELA_Human1.63921156
71PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60163206
72ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.59690751
73FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.57378376
74TP63_17297297_ChIP-ChIP_HaCaT_Human1.54906646
75ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.53760290
76BCL6_27268052_Chip-Seq_Bcells_Human1.52517304
77CTCF_27219007_Chip-Seq_ERYTHROID_Human1.52163820
78YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.49854899
79POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.48614081
80CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.46770527
81UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.45634644
82ZFX_18555785_ChIP-Seq_MESCs_Mouse1.44782995
83NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.44668700
84KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.44117360
85E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.42064822
86SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.41250521
87ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.40675581
88VDR_24763502_ChIP-Seq_THP-1_Human1.40626374
89MAF_26560356_Chip-Seq_TH2_Human1.39710405
90MAF_26560356_Chip-Seq_TH1_Human1.39206768
91CREB1_26743006_Chip-Seq_LNCaP_Human1.38857056
92SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.38575281
93KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.37609735
94UTX_26944678_Chip-Seq_JUKART_Human1.37441532
95BCOR_27268052_Chip-Seq_Bcells_Human1.36545816
96SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.35644343
97* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.33907019
98RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.31592329
99POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.30014405
100CTCF_27219007_Chip-Seq_Bcells_Human1.29685205
101KDM2B_26808549_Chip-Seq_JURKAT_Human1.29627262
102BP1_19119308_ChIP-ChIP_Hs578T_Human1.29322931
103ELK1_22589737_ChIP-Seq_MCF10A_Human1.28561283
104CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.27819875
105SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.27767285
106PU.1_20513432_ChIP-Seq_Bcells_Mouse1.25938487
107RARB_24833708_ChIP-Seq_LIVER_Mouse1.23952632
108SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.22928269
109E2F1_21310950_ChIP-Seq_MCF-7_Human1.22916726
110FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22353272
111RARA_24833708_ChIP-Seq_LIVER_Mouse1.21069504
112PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.21019199
113CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.20812357
114RUNX1_22412390_ChIP-Seq_EML_Mouse1.20256797
115SRY_22984422_ChIP-ChIP_TESTIS_Rat1.18722542
116ELK1_19687146_ChIP-ChIP_HELA_Human1.18018991
117NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.16775870
118NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.16441151
119PHF8_20622854_ChIP-Seq_HELA_Human1.16179268
120MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.15573818
121KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.15304065
122DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.14909088
123TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.14270109
124OCT4_18692474_ChIP-Seq_MEFs_Mouse1.14210285
125NCOR1_26117541_ChIP-Seq_K562_Human1.13368172
126SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.13098930
127NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.12642591
128YY1_22570637_ChIP-Seq_MALME-3M_Human1.12605035
129GATA1_22383799_ChIP-Seq_G1ME_Mouse1.12250554
130* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.11354300
131TP53_22127205_ChIP-Seq_IMR90_Human1.11015664
132SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.10365906
133BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10215322
134TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.09786291
135* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.09703100
136CTCF_26484167_Chip-Seq_Bcells_Mouse1.09660174
137CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.08539597
138KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.08532982
139SA1_27219007_Chip-Seq_Bcells_Human1.08512583
140ESR2_21235772_ChIP-Seq_MCF-7_Human1.08420337
141STAT3_1855785_ChIP-Seq_MESCs_Mouse1.07658660
142NANOG_21062744_ChIP-ChIP_HESCs_Human1.06795871
143GATA1_19941827_ChIP-Seq_MEL_Mouse1.06731141
144CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.06138976
145ETS1_21867929_ChIP-Seq_TH2_Mouse1.05934975
146PADI4_21655091_ChIP-ChIP_MCF-7_Human1.05347841
147E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.05314385
148ZFP281_27345836_Chip-Seq_ESCs_Mouse1.05227600
149WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04757870
150E2F1_20622854_ChIP-Seq_HELA_Human1.04633455
151TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.04554973
152STAT6_21828071_ChIP-Seq_BEAS2B_Human1.04420166
153GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04362845
154MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.04198711
155MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.03519250
156PPARA_22158963_ChIP-Seq_LIVER_Mouse1.02737455
157BRD4_27068464_Chip-Seq_AML-cells_Mouse1.00916754
158NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.00678648
159ZNF263_19887448_ChIP-Seq_K562_Human1.00610164
160SOX2_18692474_ChIP-Seq_MEFs_Mouse1.00328429
161CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.99942172
162TFEB_21752829_ChIP-Seq_HELA_Human0.99728650
163ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98878119
164CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.98397603
165CLOCK_20551151_ChIP-Seq_293T_Human0.97469282
166CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.97441805
167MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.97093394
168SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.95799297
169* FOXP1_21924763_ChIP-Seq_HESCs_Human0.94869382
170* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.94776442
171TBX5_21415370_ChIP-Seq_HL-1_Mouse0.93703649
172ERG_20887958_ChIP-Seq_HPC-7_Mouse0.92406133
173* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.91525895
174POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.90647648
175SOX2_18555785_ChIP-Seq_MESCs_Mouse0.89511580
176CTCF_18555785_ChIP-Seq_MESCs_Mouse0.88393254
177SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.86326798
178* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.85893481
179CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.85816548
180CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.85473000

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.79735128
2MP0003111_abnormal_nucleus_morphology5.40176901
3MP0004957_abnormal_blastocyst_morpholog4.57683084
4MP0003172_abnormal_lysosome_physiology3.80388434
5MP0010094_abnormal_chromosome_stability3.77491475
6MP0003077_abnormal_cell_cycle3.71146028
7MP0003718_maternal_effect3.71072900
8* MP0008260_abnormal_autophagy3.38988327
9MP0003436_decreased_susceptibility_to3.31452886
10MP0008932_abnormal_embryonic_tissue3.07788923
11MP0003786_premature_aging2.94674433
12MP0003705_abnormal_hypodermis_morpholog2.91378314
13MP0008058_abnormal_DNA_repair2.88563963
14MP0001849_ear_inflammation2.66580921
15MP0003315_abnormal_perineum_morphology2.58757385
16MP0002653_abnormal_ependyma_morphology2.47756777
17MP0004858_abnormal_nervous_system2.33399025
18MP0001542_abnormal_bone_strength2.30761990
19MP0001730_embryonic_growth_arrest2.28980576
20MP0009840_abnormal_foam_cell2.25043585
21MP0004859_abnormal_synaptic_plasticity2.18397573
22MP0003123_paternal_imprinting2.17599459
23MP0005076_abnormal_cell_differentiation2.15859064
24MP0009278_abnormal_bone_marrow2.14744258
25MP0003656_abnormal_erythrocyte_physiolo2.14427640
26MP0002089_abnormal_postnatal_growth/wei2.08859844
27MP0008007_abnormal_cellular_replicative2.08227116
28MP0003303_peritoneal_inflammation2.08056894
29MP0005409_darkened_coat_color2.04034980
30MP0000604_amyloidosis1.99256133
31MP0003806_abnormal_nucleotide_metabolis1.95297447
32MP0004147_increased_porphyrin_level1.95126161
33MP0004185_abnormal_adipocyte_glucose1.92622164
34MP0008057_abnormal_DNA_replication1.90521769
35MP0001986_abnormal_taste_sensitivity1.85369382
36MP0000678_abnormal_parathyroid_gland1.84225553
37MP0005360_urolithiasis1.78538395
38MP0000350_abnormal_cell_proliferation1.76086419
39MP0003183_abnormal_peptide_metabolism1.74270133
40MP0003221_abnormal_cardiomyocyte_apopto1.71034847
41MP0003122_maternal_imprinting1.70817542
42MP0005670_abnormal_white_adipose1.61937942
43MP0000358_abnormal_cell_content/1.60341393
44MP0004381_abnormal_hair_follicle1.58973019
45MP0002249_abnormal_larynx_morphology1.58517098
46MP0003690_abnormal_glial_cell1.57964608
47MP0005380_embryogenesis_phenotype1.55609557
48MP0001672_abnormal_embryogenesis/_devel1.55609557
49MP0000858_altered_metastatic_potential1.55515521
50MP0002080_prenatal_lethality1.55327475
51MP0008877_abnormal_DNA_methylation1.54905386
52MP0005423_abnormal_somatic_nervous1.54832722
53MP0005025_abnormal_response_to1.51134154
54MP0005377_hearing/vestibular/ear_phenot1.50150419
55MP0003878_abnormal_ear_physiology1.50150419
56MP0000003_abnormal_adipose_tissue1.49786491
57MP0005666_abnormal_adipose_tissue1.48764325
58MP0000685_abnormal_immune_system1.48216475
59MP0005671_abnormal_response_to1.46036967
60MP0000490_abnormal_crypts_of1.44335204
61MP0003191_abnormal_cellular_cholesterol1.44122765
62MP0006035_abnormal_mitochondrial_morpho1.42534738
63MP0001727_abnormal_embryo_implantation1.39816729
64MP0002419_abnormal_innate_immunity1.39717252
65MP0000566_synostosis1.38146493
66MP0004947_skin_inflammation1.36517418
67MP0001697_abnormal_embryo_size1.35638836
68MP0000313_abnormal_cell_death1.34709034
69MP0009333_abnormal_splenocyte_physiolog1.33722506
70MP0002822_catalepsy1.33338017
71MP0005375_adipose_tissue_phenotype1.33026450
72MP0005395_other_phenotype1.31247858
73MP0006082_CNS_inflammation1.30697540
74MP0003984_embryonic_growth_retardation1.28147483
75MP0001756_abnormal_urination1.27560005
76MP0002088_abnormal_embryonic_growth/wei1.25039000
77MP0005257_abnormal_intraocular_pressure1.24686297
78MP0002085_abnormal_embryonic_tissue1.23880829
79MP0008995_early_reproductive_senescence1.23212422
80MP0005058_abnormal_lysosome_morphology1.21216232
81MP0010030_abnormal_orbit_morphology1.21084632
82MP0003879_abnormal_hair_cell1.20354732
83MP0003567_abnormal_fetal_cardiomyocyte1.19344983
84MP0002210_abnormal_sex_determination1.18653409
85MP0003453_abnormal_keratinocyte_physiol1.17956197
86MP0002160_abnormal_reproductive_system1.16784129
87MP0001915_intracranial_hemorrhage1.16761694
88MP0003329_amyloid_beta_deposits1.15047998
89MP0002139_abnormal_hepatobiliary_system1.14826102
90MP0003634_abnormal_glial_cell1.12873770
91MP0003300_gastrointestinal_ulcer1.12866844
92MP0005000_abnormal_immune_tolerance1.11549939
93MP0003119_abnormal_digestive_system1.11314981
94MP0008569_lethality_at_weaning1.08379058
95MP0001145_abnormal_male_reproductive1.07584505
96MP0002751_abnormal_autonomic_nervous1.05705266
97MP0001188_hyperpigmentation1.04617008
98MP0001348_abnormal_lacrimal_gland1.04479790
99MP0001661_extended_life_span1.04434075
100MP0003938_abnormal_ear_development1.03155477
101* MP0005384_cellular_phenotype1.02650739
102MP0006292_abnormal_olfactory_placode1.01860364
103MP0002933_joint_inflammation1.01747460
104MP0003186_abnormal_redox_activity1.01293886
105MP0002084_abnormal_developmental_patter1.00200389
106MP0001764_abnormal_homeostasis0.99522835
107MP0004019_abnormal_vitamin_homeostasis0.99304256
108MP0005389_reproductive_system_phenotype0.98784574
109MP0001533_abnormal_skeleton_physiology0.98545376
110MP0003566_abnormal_cell_adhesion0.97424270
111MP0003866_abnormal_defecation0.95927064
112MP0009384_cardiac_valve_regurgitation0.95744962
113MP0002102_abnormal_ear_morphology0.95542358
114MP0001800_abnormal_humoral_immune0.95104952
115MP0001819_abnormal_immune_cell0.94990011
116MP0002420_abnormal_adaptive_immunity0.94822467
117MP0001929_abnormal_gametogenesis0.94578179
118MP0005387_immune_system_phenotype0.94183452
119MP0001790_abnormal_immune_system0.94183452
120MP0002723_abnormal_immune_serum0.93465785
121* MP0005621_abnormal_cell_physiology0.93337532
122MP0000920_abnormal_myelination0.93098837
123MP0004270_analgesia0.92871047
124MP0000653_abnormal_sex_gland0.92080169
125MP0005623_abnormal_meninges_morphology0.91567227
126MP0002396_abnormal_hematopoietic_system0.90362966
127MP0002086_abnormal_extraembryonic_tissu0.89503597
128MP0006036_abnormal_mitochondrial_physio0.88892335
129MP0002998_abnormal_bone_remodeling0.84970785
130MP0003283_abnormal_digestive_organ0.84757457
131MP0002234_abnormal_pharynx_morphology0.84195169
132MP0005464_abnormal_platelet_physiology0.83562975
133MP0000428_abnormal_craniofacial_morphol0.83475788
134MP0002452_abnormal_antigen_presenting0.82994237
135MP0005166_decreased_susceptibility_to0.82294789
136MP0010155_abnormal_intestine_physiology0.81466705
137MP0000716_abnormal_immune_system0.79802725
138MP0003075_altered_response_to0.79127557
139MP0002019_abnormal_tumor_incidence0.78789035
140MP0004264_abnormal_extraembryonic_tissu0.77738448
141MP0003279_aneurysm0.77258969
142MP0008874_decreased_physiological_sensi0.76656522
143MP0000609_abnormal_liver_physiology0.75020609
144MP0005365_abnormal_bile_salt0.74853494
145MP0005332_abnormal_amino_acid0.73504320
146MP0002733_abnormal_thermal_nociception0.73259565
147MP0002429_abnormal_blood_cell0.72371710
148MP0010307_abnormal_tumor_latency0.71644446
149MP0002970_abnormal_white_adipose0.70361190
150MP0002398_abnormal_bone_marrow0.70292208
151MP0009672_abnormal_birth_weight0.70176985
152MP0004510_myositis0.70093846
153MP0005394_taste/olfaction_phenotype0.69728589
154MP0005499_abnormal_olfactory_system0.69728589
155MP0009785_altered_susceptibility_to0.69142855
156MP0002161_abnormal_fertility/fecundity0.68842974
157MP0002638_abnormal_pupillary_reflex0.68698109
158MP0003699_abnormal_female_reproductive0.66671923
159MP0000465_gastrointestinal_hemorrhage0.66670739
160MP0003763_abnormal_thymus_physiology0.65054243
161MP0002269_muscular_atrophy0.64543508
162MP0002722_abnormal_immune_system0.62539712
163MP0001529_abnormal_vocalization0.62448711
164MP0001853_heart_inflammation0.61720989
165MP0002405_respiratory_system_inflammati0.60780221
166MP0002132_abnormal_respiratory_system0.60189139
167MP0001119_abnormal_female_reproductive0.58618160
168MP0001545_abnormal_hematopoietic_system0.56620788
169MP0005397_hematopoietic_system_phenotyp0.56620788
170MP0003698_abnormal_male_reproductive0.55196167
171MP0004084_abnormal_cardiac_muscle0.54766404
172MP0009053_abnormal_anal_canal0.54170753
173MP0000750_abnormal_muscle_regeneration0.52921203
174MP0003121_genomic_imprinting0.52609671
175MP0005075_abnormal_melanosome_morpholog0.51260644
176MP0002169_no_abnormal_phenotype0.50634242
177MP0002111_abnormal_tail_morphology0.50311572
178MP0001919_abnormal_reproductive_system0.50085335
179MP0001293_anophthalmia0.50057313
180MP0005451_abnormal_body_composition0.49749955
181MP0002873_normal_phenotype0.49678493
182MP0009643_abnormal_urine_homeostasis0.49624143

Predicted human phenotypes

RankGene SetZ-score
1Cerebral hypomyelination (HP:0006808)5.58589319
2Breast hypoplasia (HP:0003187)5.34861868
3Rough bone trabeculation (HP:0100670)4.66574124
4Birth length less than 3rd percentile (HP:0003561)4.65331780
5Carpal bone hypoplasia (HP:0001498)4.62134799
6Deep venous thrombosis (HP:0002625)3.89649186
7Hyperglycinemia (HP:0002154)3.85367180
8Abnormality of the umbilical cord (HP:0010881)3.83181981
9Impulsivity (HP:0100710)3.77163163
10Secondary amenorrhea (HP:0000869)3.48990172
11Patellar aplasia (HP:0006443)3.39734384
12Aplasia/Hypoplasia of the patella (HP:0006498)3.38987247
13Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.22945817
14CNS hypomyelination (HP:0003429)3.21543265
15Delusions (HP:0000746)3.20521916
16Progressive muscle weakness (HP:0003323)3.20038090
17Distal upper limb amyotrophy (HP:0007149)3.16277285
18Upper limb amyotrophy (HP:0009129)3.16277285
19Ureteral duplication (HP:0000073)3.14903938
20Abnormal trabecular bone morphology (HP:0100671)3.12809671
21Hyperglycinuria (HP:0003108)3.10128664
22Premature ovarian failure (HP:0008209)3.10006855
23Abnormal gallbladder physiology (HP:0012438)3.09475445
24Cholecystitis (HP:0001082)3.09475445
25Degeneration of anterior horn cells (HP:0002398)3.08666653
26Abnormality of the anterior horn cell (HP:0006802)3.08666653
27Hemorrhage of the eye (HP:0011885)3.03098780
28Stridor (HP:0010307)2.96763324
29Deep palmar crease (HP:0006191)2.94052545
30Vertebral compression fractures (HP:0002953)2.84356412
31Oral leukoplakia (HP:0002745)2.82186812
32Supranuclear gaze palsy (HP:0000605)2.82034795
33Multiple enchondromatosis (HP:0005701)2.80801959
34Biconcave vertebral bodies (HP:0004586)2.77791254
35Abnormal number of erythroid precursors (HP:0012131)2.75450361
36Neuronal loss in central nervous system (HP:0002529)2.73155375
37Patent foramen ovale (HP:0001655)2.73066573
38Hand muscle atrophy (HP:0009130)2.70374879
39Aplasia/Hypoplasia involving the musculature (HP:0001460)2.69228260
40Hyperacusis (HP:0010780)2.65851617
41Abnormality of glycine metabolism (HP:0010895)2.65507202
42Abnormality of serine family amino acid metabolism (HP:0010894)2.65507202
43Personality changes (HP:0000751)2.63534646
44Systemic lupus erythematosus (HP:0002725)2.63353280
45Abnormality of the fetal cardiovascular system (HP:0010948)2.63318001
46Abnormal umbilical cord blood vessels (HP:0011403)2.63318001
47Single umbilical artery (HP:0001195)2.63318001
48Gout (HP:0001997)2.62843639
49Cerebral aneurysm (HP:0004944)2.60587142
50Long palpebral fissure (HP:0000637)2.60524553
51Obstructive sleep apnea (HP:0002870)2.59446956
52Absent radius (HP:0003974)2.56427621
53CNS demyelination (HP:0007305)2.55134066
54Death in infancy (HP:0001522)2.54321206
55Abnormality of cells of the erythroid lineage (HP:0012130)2.53674622
56Eczematoid dermatitis (HP:0000976)2.51753846
57Peripheral hypomyelination (HP:0007182)2.49974803
58Abnormalities of placenta or umbilical cord (HP:0001194)2.47042499
59Thin bony cortex (HP:0002753)2.46595372
60Achilles tendon contracture (HP:0001771)2.46475028
61Dysautonomia (HP:0002459)2.45062604
62Bundle branch block (HP:0011710)2.44724148
63Megaloblastic anemia (HP:0001889)2.44045239
64Ventricular fibrillation (HP:0001663)2.43794628
65Spinal muscular atrophy (HP:0007269)2.43554609
66Aplasia involving forearm bones (HP:0009822)2.41205342
67Absent forearm bone (HP:0003953)2.41205342
68Neurofibrillary tangles (HP:0002185)2.41202257
69Dysostosis multiplex (HP:0000943)2.39144791
70Xanthomatosis (HP:0000991)2.37865656
71Macrocytic anemia (HP:0001972)2.37788933
72Distal lower limb amyotrophy (HP:0008944)2.37252522
73Thoracic kyphosis (HP:0002942)2.35563825
74Postnatal microcephaly (HP:0005484)2.35560605
75Reticulocytosis (HP:0001923)2.35353314
76Broad face (HP:0000283)2.34743985
77Microvesicular hepatic steatosis (HP:0001414)2.34382113
78Microretrognathia (HP:0000308)2.32923575
79Abnormality of the Achilles tendon (HP:0005109)2.32075914
80Myopathic facies (HP:0002058)2.30370902
81Irregular epiphyses (HP:0010582)2.29320018
82Abnormality of the thoracic spine (HP:0100711)2.28752464
83Purpura (HP:0000979)2.28264280
84Entropion (HP:0000621)2.28195908
85Reticulocytopenia (HP:0001896)2.26053571
86Abnormality of serum amino acid levels (HP:0003112)2.25985194
87Ankle clonus (HP:0011448)2.25957489
88Difficulty climbing stairs (HP:0003551)2.25722700
89Emotional lability (HP:0000712)2.24531970
90Hypoplasia of the capital femoral epiphysis (HP:0003090)2.24301255
91Growth hormone excess (HP:0000845)2.23881525
92Loss of speech (HP:0002371)2.21075686
93Cellular immunodeficiency (HP:0005374)2.20798822
94Ragged-red muscle fibers (HP:0003200)2.19929363
95Flat capital femoral epiphysis (HP:0003370)2.18531276
96Abnormality of the labia minora (HP:0012880)2.18038005
97Sparse eyelashes (HP:0000653)2.18031140
98Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.17254091
99Cellulitis (HP:0100658)2.17239972
100Atrophy/Degeneration involving motor neurons (HP:0007373)2.16785645
101Neoplasm of the pancreas (HP:0002894)2.16321137
102J-shaped sella turcica (HP:0002680)2.16319592
103Horseshoe kidney (HP:0000085)2.16294658
104Lymphangioma (HP:0100764)2.16192485
105Prolonged neonatal jaundice (HP:0006579)2.16167917
106Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.15399637
107Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.15059682
108Abnormality of alanine metabolism (HP:0010916)2.15059682
109Hyperalaninemia (HP:0003348)2.15059682
110Pointed chin (HP:0000307)2.14792606
111Glucose intolerance (HP:0000833)2.13997102
112Premature graying of hair (HP:0002216)2.13527870
113Increased cerebral lipofuscin (HP:0011813)2.12058084
114High anterior hairline (HP:0009890)2.11791351
115Nuclear cataract (HP:0100018)2.11316283
116Annular pancreas (HP:0001734)2.11067193
117Tongue fasciculations (HP:0001308)2.10701073
118Atrioventricular block (HP:0001678)2.10666530
119Hepatic necrosis (HP:0002605)2.10434418
120Cervical subluxation (HP:0003308)2.09855483
121Unsteady gait (HP:0002317)2.09699866
122Tetraplegia (HP:0002445)2.07131443
123Trismus (HP:0000211)2.06406411
124Broad distal phalanx of finger (HP:0009836)2.05093591
125Absent epiphyses (HP:0010577)2.04323244
126Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.04323244
127Testicular atrophy (HP:0000029)2.04001580
128Easy fatigability (HP:0003388)2.01932016
129Metaphyseal cupping (HP:0003021)2.01492253
130Hypercholesterolemia (HP:0003124)2.00510039
131Segmental peripheral demyelination/remyelination (HP:0003481)2.00074569
132Abnormal autonomic nervous system physiology (HP:0012332)1.98674383
133Abnormality of the distal phalanges of the toes (HP:0010182)1.98372583
134Protrusio acetabuli (HP:0003179)1.98297388
135Hepatocellular necrosis (HP:0001404)1.98079830
136Diaphragmatic weakness (HP:0009113)1.97958095
137Abnormal pancreas size (HP:0012094)1.97834668
138Flattened epiphyses (HP:0003071)1.96587410
139Concave nail (HP:0001598)1.96501991
140Progressive external ophthalmoplegia (HP:0000590)1.96036264
141Abnormal spermatogenesis (HP:0008669)1.95637661
142Disproportionate tall stature (HP:0001519)1.95486629
143Hypertriglyceridemia (HP:0002155)1.95302928
144Muscle fibrillation (HP:0010546)1.95250435
145Increased serum lactate (HP:0002151)1.95159706
146Flat acetabular roof (HP:0003180)1.94977117
147Lower limb amyotrophy (HP:0007210)1.93612217
148Abnormality of the heme biosynthetic pathway (HP:0010472)1.93478209
149Bone marrow hypocellularity (HP:0005528)1.92279521
150Axonal loss (HP:0003447)1.91916657
151Glomerulonephritis (HP:0000099)1.91559253
152Colitis (HP:0002583)1.91549595
153Spinal cord lesions (HP:0100561)1.91219721
154Syringomyelia (HP:0003396)1.91219721
155Ulnar bowing (HP:0003031)1.91049527
156Posterior subcapsular cataract (HP:0007787)1.90597201
157Selective tooth agenesis (HP:0001592)1.89643713
158Aplasia/Hypoplasia of the sacrum (HP:0008517)1.88179315
159Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.87456735
160Abnormality of mucopolysaccharide metabolism (HP:0011020)1.87312463
161Abnormality of polysaccharide metabolism (HP:0011012)1.87312463
162Abnormality of glycosaminoglycan metabolism (HP:0004371)1.87312463
163Cleft eyelid (HP:0000625)1.86711334
164Cerebral inclusion bodies (HP:0100314)1.85967126
165Visual hallucinations (HP:0002367)1.85696119
166Aplasia/hypoplasia of the uterus (HP:0008684)1.85229934
167Obstructive lung disease (HP:0006536)1.85127804
168Chronic obstructive pulmonary disease (HP:0006510)1.85127804
169Insomnia (HP:0100785)1.83764419
170Absent hand (HP:0004050)1.83423878
171Nausea (HP:0002018)1.83343727
172Abnormality of macrophages (HP:0004311)1.83080113
173Abnormal neuron morphology (HP:0012757)1.82284986
174Abnormality of the motor neurons (HP:0002450)1.82284986
175Spastic paraparesis (HP:0002313)1.81776164
176Abnormality of glycosphingolipid metabolism (HP:0004343)1.81100053
177Abnormality of glycolipid metabolism (HP:0010969)1.81100053
178Abnormality of liposaccharide metabolism (HP:0010968)1.81100053
179Retinal atrophy (HP:0001105)1.80827187
180Supernumerary nipples (HP:0002558)1.80115880
181Mucopolysacchariduria (HP:0008155)1.79417022
182Urinary glycosaminoglycan excretion (HP:0003541)1.79417022
183Bronchomalacia (HP:0002780)1.79061249
184Premature rupture of membranes (HP:0001788)1.78841253
185Polygenic inheritance (HP:0010982)1.78336381
186Vitreoretinal degeneration (HP:0000655)1.77749796
187Aplasia/Hypoplasia of the breasts (HP:0010311)1.77522936
188Increased neuronal autofluorescent lipopigment (HP:0002074)1.77338945
189Abnormality of complement system (HP:0005339)1.75902060
190Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.73796800
191Complement deficiency (HP:0004431)1.71965204
192Joint hemorrhage (HP:0005261)1.70638393
193Atelectasis (HP:0100750)1.66951277
194Recurrent gram-negative bacterial infections (HP:0005420)1.66495077
195Increased IgE level (HP:0003212)1.64599766
196Gastrointestinal inflammation (HP:0004386)1.64558167
197Upper motor neuron abnormality (HP:0002127)1.64253662
198Skin nodule (HP:0200036)1.64077115

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB16.39604874
2WEE14.27220132
3STK163.88692537
4TRIB33.85692512
5TSSK63.78490761
6ERN13.72875794
7EIF2AK13.69485564
8AKT32.84279529
9SMG12.71023528
10FGFR42.68465185
11RIPK12.59914455
12EPHA22.57583766
13SIK12.42416617
14ICK2.31923585
15SRPK12.18978187
16EIF2AK32.16275750
17MAP2K32.05996887
18TESK22.02819902
19BRSK12.01914422
20TTK2.01789873
21BRSK21.98958518
22NEK11.98705975
23PLK41.96991602
24SIK21.94684906
25BRAF1.85233411
26ZAK1.82920522
27NEK21.81579880
28MAP4K11.81215841
29PKN21.80910429
30NME21.78230030
31PLK11.76049732
32TLK11.75649734
33ACVR1B1.69867902
34PLK31.68218757
35ARAF1.67980593
36DYRK31.65417764
37CDK121.62338668
38NME11.59470861
39IRAK31.53231156
40PRKD31.52380060
41PNCK1.49651046
42PRKD21.49607684
43MKNK11.38990303
44EEF2K1.37991081
45MARK21.34674971
46AURKA1.33074699
47EPHB11.32033857
48PIM21.30761653
49TNK21.29604865
50MARK31.28356911
51TYRO31.27551152
52CCNB11.20958793
53TAOK21.18654383
54TAOK31.17509465
55DDR21.09550265
56TYK21.08421049
57CDC42BPA1.08167617
58MARK11.06599752
59PDGFRA1.06530346
60CHEK21.04359236
61IRAK21.02352448
62TBK11.01977226
63MKNK21.00711304
64VRK11.00327151
65RIPK40.99057090
66SIK30.98779025
67PTK20.98015088
68AURKB0.97137111
69RPS6KA20.97060638
70LATS20.96991225
71PTK60.96717575
72PDK30.93847577
73PDK40.93847577
74MAP3K100.93276784
75PRKCI0.92944121
76DYRK20.92805761
77PAK10.88977817
78PDPK10.87460659
79DYRK1B0.86919408
80MAP3K30.82676069
81GRK60.82656316
82LIMK10.80508070
83ALK0.80059241
84FGR0.79941179
85MAP3K130.79446108
86CDK190.75813535
87MAP3K80.74946536
88CDC70.74793693
89EPHA40.73313306
90ATR0.73298672
91MAP3K10.73179692
92RPS6KL10.73103576
93RPS6KC10.73103576
94MAP2K20.72595659
95HIPK20.70891099
96MAP3K70.70441046
97TESK10.69963042
98NTRK10.68764920
99LMTK20.66524310
100MTOR0.66385393
101CAMKK10.63680660
102PAK60.63357532
103STK38L0.62586723
104FES0.62168063
105PASK0.61756957
106DAPK10.61716539
107FGFR30.60817128
108PDK10.60175314
109BMX0.59400121
110MAP2K40.58787488
111MAPK120.56501137
112CHEK10.54887670
113MAP3K90.53768012
114BLK0.53259332
115CDK20.53016543
116CDK70.52048757
117PAK40.51336977
118CDK11A0.50683208
119RAF10.50581729
120BCKDK0.50270724
121UHMK10.49065653
122PRKCG0.48735018
123LRRK20.47802884
124TTN0.47728519
125RPS6KA60.47725882
126EPHB20.47468902
127ABL20.46925945
128PDK20.45265199
129CSNK2A10.45112768
130MAP3K110.44924129
131CDK150.44813972
132SGK30.44599663
133MAPK110.43997024
134TAOK10.43808022
135RET0.43666407
136CSK0.43248123
137RPS6KB20.42461264
138RPS6KA40.42320183
139KSR10.41690934
140ZAP700.40977627
141MATK0.40798845
142CSNK1E0.40609675
143CDK90.40381493
144EIF2AK20.39447711
145ILK0.39330610
146PRKD10.38881286
147CDK180.38735779
148EPHA30.38121428
149MAP3K60.37991467
150CSNK2A20.37343532
151PINK10.36651979
152CDK10.36149338
153CDK40.35967890
154CSNK1G30.31519250
155RPS6KA50.31058582
156ERBB20.29838822
157KDR0.29469708
158KSR20.29138978
159MAP3K50.28125859
160IRAK10.26348230
161CAMK2G0.26184017
162MINK10.24811771
163MAP2K10.23965745
164DAPK30.23776078
165PRPF4B0.23717917
166CSNK1A10.22565885
167IRAK40.19355415
168MAP2K60.18974452
169CAMKK20.18736861
170MAPK90.16387515
171ERBB30.14461582

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.33586905
2Vitamin B6 metabolism_Homo sapiens_hsa007505.07559655
3RNA polymerase_Homo sapiens_hsa030204.57207942
4Other glycan degradation_Homo sapiens_hsa005113.92385374
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.82218166
6DNA replication_Homo sapiens_hsa030303.16932607
7RNA transport_Homo sapiens_hsa030133.05006223
8Pyrimidine metabolism_Homo sapiens_hsa002402.83374602
9Spliceosome_Homo sapiens_hsa030402.66528992
10Ribosome_Homo sapiens_hsa030102.60518012
11Mismatch repair_Homo sapiens_hsa034302.53963790
12* Regulation of autophagy_Homo sapiens_hsa041402.43406370
13Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.34687171
14Notch signaling pathway_Homo sapiens_hsa043302.27696191
15Folate biosynthesis_Homo sapiens_hsa007902.21478763
16Cell cycle_Homo sapiens_hsa041102.21083119
17Nucleotide excision repair_Homo sapiens_hsa034202.16412554
18Homologous recombination_Homo sapiens_hsa034402.13078742
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.11253512
20Base excision repair_Homo sapiens_hsa034102.09817846
21Glycosaminoglycan degradation_Homo sapiens_hsa005312.05001332
22Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.99584363
23Pentose phosphate pathway_Homo sapiens_hsa000301.91508773
24Basal transcription factors_Homo sapiens_hsa030221.87559169
25Acute myeloid leukemia_Homo sapiens_hsa052211.83630354
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.75706118
27Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.75402791
28Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.61856343
29Purine metabolism_Homo sapiens_hsa002301.60880021
30VEGF signaling pathway_Homo sapiens_hsa043701.59460969
31Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.58580440
32Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.54988579
33Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.53842172
34Non-small cell lung cancer_Homo sapiens_hsa052231.50204609
35Epstein-Barr virus infection_Homo sapiens_hsa051691.45684426
36Glycerophospholipid metabolism_Homo sapiens_hsa005641.41648089
37Neurotrophin signaling pathway_Homo sapiens_hsa047221.41026473
38Prion diseases_Homo sapiens_hsa050201.39666004
39Chronic myeloid leukemia_Homo sapiens_hsa052201.38512956
40Central carbon metabolism in cancer_Homo sapiens_hsa052301.36823762
41One carbon pool by folate_Homo sapiens_hsa006701.34200422
42Toll-like receptor signaling pathway_Homo sapiens_hsa046201.33751281
43Sulfur relay system_Homo sapiens_hsa041221.32932428
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.32030280
45Osteoclast differentiation_Homo sapiens_hsa043801.30715086
46Fructose and mannose metabolism_Homo sapiens_hsa000511.27347748
47Drug metabolism - other enzymes_Homo sapiens_hsa009831.24530730
48Oocyte meiosis_Homo sapiens_hsa041141.24373122
49Bladder cancer_Homo sapiens_hsa052191.24128279
50p53 signaling pathway_Homo sapiens_hsa041151.23812261
51B cell receptor signaling pathway_Homo sapiens_hsa046621.19941300
52Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.19545994
53Leishmaniasis_Homo sapiens_hsa051401.18458612
54Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.16119634
55Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.15825486
56Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.14902200
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.14330409
58Fanconi anemia pathway_Homo sapiens_hsa034601.13270943
59Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.08453380
60mRNA surveillance pathway_Homo sapiens_hsa030151.05660823
612-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.05387363
62Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.05194801
63Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.03932094
64Biosynthesis of amino acids_Homo sapiens_hsa012301.00745342
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.99864892
66Phosphatidylinositol signaling system_Homo sapiens_hsa040700.99675659
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.96750957
68Hepatitis C_Homo sapiens_hsa051600.95704449
69Thyroid hormone signaling pathway_Homo sapiens_hsa049190.95349578
70Fatty acid elongation_Homo sapiens_hsa000620.94765963
71Glioma_Homo sapiens_hsa052140.94129519
72RNA degradation_Homo sapiens_hsa030180.94008211
73Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.92958455
74Inositol phosphate metabolism_Homo sapiens_hsa005620.92846261
75Pertussis_Homo sapiens_hsa051330.91577591
76ErbB signaling pathway_Homo sapiens_hsa040120.90792430
77Endometrial cancer_Homo sapiens_hsa052130.88557536
78Complement and coagulation cascades_Homo sapiens_hsa046100.86656607
79Staphylococcus aureus infection_Homo sapiens_hsa051500.84557656
80Adipocytokine signaling pathway_Homo sapiens_hsa049200.83351675
81Carbon metabolism_Homo sapiens_hsa012000.83067038
82Salmonella infection_Homo sapiens_hsa051320.82843597
83Tuberculosis_Homo sapiens_hsa051520.82525811
84GnRH signaling pathway_Homo sapiens_hsa049120.82206202
85Pancreatic cancer_Homo sapiens_hsa052120.82086650
86AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81182217
87NF-kappa B signaling pathway_Homo sapiens_hsa040640.79943223
88Choline metabolism in cancer_Homo sapiens_hsa052310.78499937
89Phenylalanine metabolism_Homo sapiens_hsa003600.76966878
90TNF signaling pathway_Homo sapiens_hsa046680.75820232
91HIF-1 signaling pathway_Homo sapiens_hsa040660.74343163
92Protein export_Homo sapiens_hsa030600.73940683
93Selenocompound metabolism_Homo sapiens_hsa004500.73143553
94Hepatitis B_Homo sapiens_hsa051610.72359017
95Toxoplasmosis_Homo sapiens_hsa051450.71957115
96Thyroid cancer_Homo sapiens_hsa052160.71116799
97PPAR signaling pathway_Homo sapiens_hsa033200.68045540
98Estrogen signaling pathway_Homo sapiens_hsa049150.67622397
99Long-term potentiation_Homo sapiens_hsa047200.65843696
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.65301325
101Leukocyte transendothelial migration_Homo sapiens_hsa046700.65049251
102Vitamin digestion and absorption_Homo sapiens_hsa049770.64537355
103Influenza A_Homo sapiens_hsa051640.63934857
104Huntingtons disease_Homo sapiens_hsa050160.62305388
105Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62027842
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.59655777
107Lysosome_Homo sapiens_hsa041420.59542948
108Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.59053524
109Non-homologous end-joining_Homo sapiens_hsa034500.58670995
110Colorectal cancer_Homo sapiens_hsa052100.58248434
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.57851025
112Metabolic pathways_Homo sapiens_hsa011000.57361594
113Chemokine signaling pathway_Homo sapiens_hsa040620.57223754
114Prolactin signaling pathway_Homo sapiens_hsa049170.57170291
115RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.56861865
116Fatty acid metabolism_Homo sapiens_hsa012120.56536198
117Rap1 signaling pathway_Homo sapiens_hsa040150.50316441
118Glutathione metabolism_Homo sapiens_hsa004800.50125033
119Parkinsons disease_Homo sapiens_hsa050120.49455661
120Arginine biosynthesis_Homo sapiens_hsa002200.49351036
121Insulin resistance_Homo sapiens_hsa049310.49019245
122Aldosterone synthesis and secretion_Homo sapiens_hsa049250.48909413
123Circadian rhythm_Homo sapiens_hsa047100.47861393
124Phagosome_Homo sapiens_hsa041450.47147354
125Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.46454537
126Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.44645135
127T cell receptor signaling pathway_Homo sapiens_hsa046600.44518631
128Arachidonic acid metabolism_Homo sapiens_hsa005900.44392434
129Amoebiasis_Homo sapiens_hsa051460.43188759
130Galactose metabolism_Homo sapiens_hsa000520.42041092
131Oxidative phosphorylation_Homo sapiens_hsa001900.39848908
132Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.39306614
133Maturity onset diabetes of the young_Homo sapiens_hsa049500.36148784
134mTOR signaling pathway_Homo sapiens_hsa041500.36021501
135Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.33788739
136Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.32306534
137Arginine and proline metabolism_Homo sapiens_hsa003300.32078696
138Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.31998320
139Viral carcinogenesis_Homo sapiens_hsa052030.28155283
140Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26693180
141Renin-angiotensin system_Homo sapiens_hsa046140.25558162
142Glycerolipid metabolism_Homo sapiens_hsa005610.24703914
143N-Glycan biosynthesis_Homo sapiens_hsa005100.23866879
144Longevity regulating pathway - mammal_Homo sapiens_hsa042110.20226723
145Collecting duct acid secretion_Homo sapiens_hsa049660.20039034
146Endocytosis_Homo sapiens_hsa041440.19423887
147Sphingolipid metabolism_Homo sapiens_hsa006000.19219334
148HTLV-I infection_Homo sapiens_hsa051660.19061018
149Antigen processing and presentation_Homo sapiens_hsa046120.17648801
150Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.16902970
151Synaptic vesicle cycle_Homo sapiens_hsa047210.16133252
152Linoleic acid metabolism_Homo sapiens_hsa005910.14846984
153Apoptosis_Homo sapiens_hsa042100.14323283
154Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.13102784
155Hippo signaling pathway_Homo sapiens_hsa043900.12974377
156Herpes simplex infection_Homo sapiens_hsa051680.12618798
157Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.12428128
158Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.12054906
159Legionellosis_Homo sapiens_hsa051340.11122523
160Shigellosis_Homo sapiens_hsa051310.08080733
161Cyanoamino acid metabolism_Homo sapiens_hsa004600.07422433
162Vibrio cholerae infection_Homo sapiens_hsa051100.06977662
163Hedgehog signaling pathway_Homo sapiens_hsa043400.06335713
164Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.05779295
165Systemic lupus erythematosus_Homo sapiens_hsa053220.05312723
166SNARE interactions in vesicular transport_Homo sapiens_hsa041300.05014466
167Insulin signaling pathway_Homo sapiens_hsa049100.03905711
168Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.03631680
169FoxO signaling pathway_Homo sapiens_hsa040680.03232944
170alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.03226903
171AMPK signaling pathway_Homo sapiens_hsa041520.03129980
172Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.01825012
173Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.00709204

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