CHMP2B

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.56747433
2ribosome assembly (GO:0042255)4.93725150
3negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.39552590
4desmosome organization (GO:0002934)4.23309001
5regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.21584133
6negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.14834632
7negative regulation of ligase activity (GO:0051352)4.14834632
8positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.12783437
9antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.11645172
10positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.03465998
11anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.96478458
12regulation of cellular amino acid metabolic process (GO:0006521)3.95303466
13CENP-A containing nucleosome assembly (GO:0034080)3.90966805
14negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.82714389
15bundle of His cell to Purkinje myocyte communication (GO:0086069)3.82379216
16mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.77131959
17response to interferon-alpha (GO:0035455)3.74076693
18chromatin remodeling at centromere (GO:0031055)3.64822529
19phospholipid scrambling (GO:0017121)3.60061988
20endosome to melanosome transport (GO:0035646)3.55851343
21endosome to pigment granule transport (GO:0043485)3.55851343
22positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.54410074
23positive regulation of ligase activity (GO:0051351)3.50255445
24establishment of integrated proviral latency (GO:0075713)3.45989723
25DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.44615114
26antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.42644139
27antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.42644139
28intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.38925356
29signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.38925356
30regulation of ubiquitin-protein transferase activity (GO:0051438)3.38553619
31ribosomal large subunit biogenesis (GO:0042273)3.36951895
32establishment of viral latency (GO:0019043)3.36684493
33signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.36417755
34signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.36417755
35signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.36417755
36regulation of ligase activity (GO:0051340)3.35761199
37protein neddylation (GO:0045116)3.33772544
38platelet dense granule organization (GO:0060155)3.33463160
39hemidesmosome assembly (GO:0031581)3.30020329
40regulation of metalloenzyme activity (GO:0048552)3.29744057
41membrane budding (GO:0006900)3.26783213
42nucleotide-sugar biosynthetic process (GO:0009226)3.24600694
43formation of translation preinitiation complex (GO:0001731)3.23027547
44intestinal epithelial cell development (GO:0060576)3.21669258
45signal transduction involved in DNA integrity checkpoint (GO:0072401)3.21444492
46signal transduction involved in DNA damage checkpoint (GO:0072422)3.21444492
47response to interferon-beta (GO:0035456)3.18160054
48negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)3.16713900
49barbed-end actin filament capping (GO:0051016)3.15543825
50cullin deneddylation (GO:0010388)3.14044962
51negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 3.13909481
52DNA double-strand break processing (GO:0000729)3.13331748
53signal transduction involved in cell cycle checkpoint (GO:0072395)3.12347434
54histone exchange (GO:0043486)3.08189240
55respiratory chain complex IV assembly (GO:0008535)3.07785586
56antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.07460868
57negative regulation of protein ubiquitination (GO:0031397)3.05476009
58mitotic metaphase plate congression (GO:0007080)3.02399180
59antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.96403697
60adhesion of symbiont to host cell (GO:0044650)2.95909410
61virion attachment to host cell (GO:0019062)2.95909410
62regulation of helicase activity (GO:0051095)2.90893288
63protein deneddylation (GO:0000338)2.89086968
64negative regulation of protein modification by small protein conjugation or removal (GO:1903321)2.86213217
65chaperone-mediated protein transport (GO:0072321)2.85546832
66regulation of cellular amine metabolic process (GO:0033238)2.83945715
67transcytosis (GO:0045056)2.83279625
68spindle checkpoint (GO:0031577)2.82123331
69nucleobase-containing small molecule interconversion (GO:0015949)2.80493685
70ventricular cardiac muscle cell development (GO:0055015)2.80108100
71neutrophil activation involved in immune response (GO:0002283)2.78070639
72energy coupled proton transport, down electrochemical gradient (GO:0015985)2.78043617
73ATP synthesis coupled proton transport (GO:0015986)2.78043617
74regulation of histone phosphorylation (GO:0033127)2.76573131
75negative regulation of mitotic sister chromatid separation (GO:2000816)2.75247545
76negative regulation of sister chromatid segregation (GO:0033046)2.75247545
77negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.75247545
78negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.75247545
79negative regulation of mitotic sister chromatid segregation (GO:0033048)2.75247545
80mitotic spindle checkpoint (GO:0071174)2.74404659
81antigen processing and presentation of endogenous antigen (GO:0019883)2.74335421
82cellular protein complex localization (GO:0034629)2.74188987
83metaphase plate congression (GO:0051310)2.73684144
84regulation of mitochondrial translation (GO:0070129)2.72914917
85cell cycle G1/S phase transition (GO:0044843)2.72220866
86G1/S transition of mitotic cell cycle (GO:0000082)2.72220866
87fucose catabolic process (GO:0019317)2.72193087
88L-fucose metabolic process (GO:0042354)2.72193087
89L-fucose catabolic process (GO:0042355)2.72193087
90rRNA modification (GO:0000154)2.70448103
91DNA replication-independent nucleosome organization (GO:0034724)2.70428012
92DNA replication-independent nucleosome assembly (GO:0006336)2.70428012
93DNA damage response, detection of DNA damage (GO:0042769)2.70370920
94daunorubicin metabolic process (GO:0044597)2.69784226
95polyketide metabolic process (GO:0030638)2.69784226
96doxorubicin metabolic process (GO:0044598)2.69784226
97purine nucleobase biosynthetic process (GO:0009113)2.69065947
98mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.67706026
99histone mRNA metabolic process (GO:0008334)2.66070395
100establishment of protein localization to mitochondrial membrane (GO:0090151)2.64021481
101spindle assembly checkpoint (GO:0071173)2.62881716
102signal peptide processing (GO:0006465)2.62711445
103regulation of meiosis I (GO:0060631)2.62410853
104xenobiotic catabolic process (GO:0042178)2.61273374
105positive regulation of natural killer cell differentiation (GO:0032825)2.60973404
106protein localization to kinetochore (GO:0034501)2.60056442
107protein targeting to mitochondrion (GO:0006626)2.59204035
108regulation of natural killer cell differentiation (GO:0032823)2.58582186
109negative regulation of chromosome segregation (GO:0051985)2.58276474
110mitotic spindle assembly checkpoint (GO:0007094)2.58019816
111antigen processing and presentation via MHC class Ib (GO:0002475)2.57568326
112negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.57495190
113AMP metabolic process (GO:0046033)2.55713899
114tricarboxylic acid cycle (GO:0006099)2.54595106
115regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.54224894
116regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.53565858
117regulation of mitotic metaphase/anaphase transition (GO:0030071)2.53565858
118regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.53254162
119regulation of mitotic spindle checkpoint (GO:1903504)2.53254162
120respiratory electron transport chain (GO:0022904)2.53137428
121Arp2/3 complex-mediated actin nucleation (GO:0034314)2.52829914
122regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator 2.50501752
123negative regulation of signal transduction by p53 class mediator (GO:1901797)2.49678026
124antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.47996954
125positive regulation of cell cycle arrest (GO:0071158)2.47913691
126fusion of sperm to egg plasma membrane (GO:0007342)2.47409303
127mitotic G2/M transition checkpoint (GO:0044818)2.47379299
128protein K11-linked ubiquitination (GO:0070979)2.46840481
129protein localization to mitochondrion (GO:0070585)2.46815694
130electron transport chain (GO:0022900)2.46601220
131adhesion of symbiont to host (GO:0044406)2.45645441
132pentose-phosphate shunt (GO:0006098)2.44088687
133negative regulation of viral entry into host cell (GO:0046597)2.43606646
134regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.43373066
135negative regulation of biomineral tissue development (GO:0070168)2.39895387
136cell adhesion mediated by integrin (GO:0033627)2.39079389
137sexual reproduction (GO:0019953)2.38411292
138interferon-gamma secretion (GO:0072643)2.31980322
139protein targeting to plasma membrane (GO:0072661)2.26479996
140NADPH regeneration (GO:0006740)2.26218949
141negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.25779983
142cellular response to interferon-alpha (GO:0035457)2.25278362
143lipopolysaccharide biosynthetic process (GO:0009103)2.25088289
144wound healing, spreading of epidermal cells (GO:0035313)2.24358178
145galactose catabolic process (GO:0019388)2.21688660
146response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.19875530
147response to host immune response (GO:0052572)2.19875530
148negative regulation of erythrocyte differentiation (GO:0045647)2.19431501
149definitive hemopoiesis (GO:0060216)2.19097188
150positive regulation of glycoprotein metabolic process (GO:1903020)2.18867252
151positive regulation of lamellipodium assembly (GO:0010592)2.18803707
152mitochondrial calcium ion homeostasis (GO:0051560)2.18377406
153production of molecular mediator of immune response (GO:0002440)2.16831921
154regulation of viral entry into host cell (GO:0046596)2.14597921
155negative regulation of bone mineralization (GO:0030502)2.14458966
156platelet aggregation (GO:0070527)2.14184205
157positive regulation of pseudopodium assembly (GO:0031274)2.12554145
158cell wall macromolecule catabolic process (GO:0016998)2.12290873
159cell wall macromolecule metabolic process (GO:0044036)2.12290873
160regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.11779608
161peptide catabolic process (GO:0043171)2.11689960
162sperm capacitation (GO:0048240)2.10840652
163respiratory tube development (GO:0030323)2.10156404
164membrane raft organization (GO:0031579)2.08968642
165membrane protein intracellular domain proteolysis (GO:0031293)2.08207379
166type B pancreatic cell proliferation (GO:0044342)2.07554653
167regulation of ruffle assembly (GO:1900027)2.07458988
168regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.06895012
169establishment of skin barrier (GO:0061436)2.06819021
170low-density lipoprotein particle clearance (GO:0034383)2.04832802
171mitochondrial calcium ion transport (GO:0006851)2.04712837
172membrane invagination (GO:0010324)2.04679397
173apoptotic cell clearance (GO:0043277)2.04405080
174Golgi transport vesicle coating (GO:0048200)2.03901126
175COPI coating of Golgi vesicle (GO:0048205)2.03901126
176heparin biosynthetic process (GO:0030210)2.02873133
177heparin metabolic process (GO:0030202)2.02873133
178O-glycan processing (GO:0016266)2.02632865
179fibroblast migration (GO:0010761)2.02539735
180pattern specification involved in kidney development (GO:0061004)2.01756758
181protein retention in ER lumen (GO:0006621)2.01634205
182cellular response to vitamin (GO:0071295)2.01448484
183nucleoside diphosphate biosynthetic process (GO:0009133)2.01212372
184cellular response to thyroid hormone stimulus (GO:0097067)2.00422156
185phagocytosis, recognition (GO:0006910)2.00406007
186maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.00008914
187phagocytosis, engulfment (GO:0006911)1.99147542
188plasma membrane fusion (GO:0045026)1.98399832
189cellular response to type I interferon (GO:0071357)1.97237164
190type I interferon signaling pathway (GO:0060337)1.97237164
191maintenance of gastrointestinal epithelium (GO:0030277)1.96673299
192regulation of apoptotic process involved in morphogenesis (GO:1902337)1.96135394
193negative regulation of glycoprotein biosynthetic process (GO:0010561)1.96119355
194melanosome organization (GO:0032438)1.95687788
195response to host (GO:0075136)1.95625957
196response to host defenses (GO:0052200)1.95625957
197response to defenses of other organism involved in symbiotic interaction (GO:0052173)1.95625957

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.41357196
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.30946071
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.86020932
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.62772117
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.48044860
6ELK1_19687146_ChIP-ChIP_HELA_Human3.19766252
7RARG_19884340_ChIP-ChIP_MEFs_Mouse3.07884509
8IRF8_22096565_ChIP-ChIP_GC-B_Human2.98952467
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.92635248
10CREB1_15753290_ChIP-ChIP_HEK293T_Human2.82657912
11MYC_18555785_ChIP-Seq_MESCs_Mouse2.80725143
12AR_21909140_ChIP-Seq_LNCAP_Human2.75992712
13SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.65265849
14PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.47614869
15PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.44524032
16ZNF263_19887448_ChIP-Seq_K562_Human2.44117252
17SOX2_20726797_ChIP-Seq_SW620_Human2.38070231
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.32186909
19NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.29912371
20VDR_23849224_ChIP-Seq_CD4+_Human2.23487943
21DCP1A_22483619_ChIP-Seq_HELA_Human2.21735874
22CDX2_19796622_ChIP-Seq_MESCs_Mouse2.16610163
23* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.14618382
24JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.13589355
25ELF1_17652178_ChIP-ChIP_JURKAT_Human2.12715975
26GATA1_22025678_ChIP-Seq_K562_Human2.10057611
27GATA2_21666600_ChIP-Seq_HMVEC_Human2.09987123
28E2F4_17652178_ChIP-ChIP_JURKAT_Human2.07115221
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.06554734
30NELFA_20434984_ChIP-Seq_ESCs_Mouse2.04863046
31MYB_21317192_ChIP-Seq_ERMYB_Mouse2.01548124
32STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.99982897
33ETS1_20019798_ChIP-Seq_JURKAT_Human1.99833375
34CLOCK_20551151_ChIP-Seq_293T_Human1.97620495
35PADI4_21655091_ChIP-ChIP_MCF-7_Human1.97556662
36MYC_19030024_ChIP-ChIP_MESCs_Mouse1.95802931
37Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.90613590
38E2F7_22180533_ChIP-Seq_HELA_Human1.88155917
39NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.87378294
40E2F1_18555785_ChIP-Seq_MESCs_Mouse1.85936646
41NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.85205527
42ESR2_21235772_ChIP-Seq_MCF-7_Human1.84729146
43IRF8_21731497_ChIP-ChIP_J774_Mouse1.82758409
44ESR1_21235772_ChIP-Seq_MCF-7_Human1.82243125
45FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.81517192
46P63_26484246_Chip-Seq_KERATINOCYTES_Human1.78754187
47RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.76779938
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.76360321
49EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.76013802
50IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.75295619
51KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.72632579
52CDX2_20551321_ChIP-Seq_CACO-2_Human1.71782433
53SALL1_21062744_ChIP-ChIP_HESCs_Human1.71643580
54HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.68016050
55SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.67602433
56SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.67602433
57SOX2_27498859_Chip-Seq_STOMACH_Mouse1.66280357
58NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.66040042
59NRF2_20460467_ChIP-Seq_MEFs_Mouse1.66040042
60HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.65289931
61SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.64218682
62NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.63487874
63POU3F2_20337985_ChIP-ChIP_501MEL_Human1.61133386
64FOXP3_21729870_ChIP-Seq_TREG_Human1.59777863
65PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.58864149
66MYC_19079543_ChIP-ChIP_MESCs_Mouse1.58814887
67ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.57556166
68TFEB_21752829_ChIP-Seq_HELA_Human1.57501543
69MYC_18358816_ChIP-ChIP_MESCs_Mouse1.54496391
70CJUN_26792858_Chip-Seq_BT549_Human1.54400687
71MYCN_18555785_ChIP-Seq_MESCs_Mouse1.53911991
72ZFX_18555785_ChIP-Seq_MESCs_Mouse1.50168734
73TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.50032870
74KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.49506975
75KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.49506975
76KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.49506975
77* IRF8_27001747_Chip-Seq_BMDM_Mouse1.49438443
78* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.48601687
79TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.47178590
80TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.45527794
81BP1_19119308_ChIP-ChIP_Hs578T_Human1.45341218
82CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.43767833
83SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.42528937
84ELK1_22589737_ChIP-Seq_MCF10A_Human1.41495548
85FLI1_27457419_Chip-Seq_LIVER_Mouse1.40425630
86NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.39674481
87GABP_19822575_ChIP-Seq_HepG2_Human1.36463227
88* GATA4_25053715_ChIP-Seq_YYC3_Human1.35529440
89EGR1_19032775_ChIP-ChIP_M12_Human1.35012509
90FUS_26573619_Chip-Seq_HEK293_Human1.34582156
91RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.34465471
92CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.33277998
93TTF2_22483619_ChIP-Seq_HELA_Human1.32148638
94EWS_26573619_Chip-Seq_HEK293_Human1.30929518
95CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.30730073
96* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.29632317
97* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.28939364
98RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.27531124
99SRY_22984422_ChIP-ChIP_TESTIS_Rat1.27227340
100CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.26379663
101HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.24948021
102TP63_23658742_ChIP-Seq_EP156T_Human1.24773595
103ELF5_23300383_ChIP-Seq_T47D_Human1.23747990
104JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23467078
105SRF_21415370_ChIP-Seq_HL-1_Mouse1.22577221
106FOXO3_23340844_ChIP-Seq_DLD1_Human1.21911163
107RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.18562238
108SMAD_19615063_ChIP-ChIP_OVARY_Human1.18490690
109RXR_22158963_ChIP-Seq_LIVER_Mouse1.14845034
110MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.13391472
111YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13315694
112SOX9_24532713_ChIP-Seq_HFSC_Mouse1.11133446
113POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.10921752
114PCGF2_27294783_Chip-Seq_ESCs_Mouse1.10631847
115SALL4_18804426_ChIP-ChIP_XEN_Mouse1.08538422
116HIF1A_21447827_ChIP-Seq_MCF-7_Human1.08172245
117E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.07626657
118THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07091150
119FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.06452562
120IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.05702536
121SOX17_20123909_ChIP-Seq_XEN_Mouse1.05532983
122CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.04403263
123ELK3_25401928_ChIP-Seq_HUVEC_Human1.04101516
124EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.04033933
125PPARA_22158963_ChIP-Seq_LIVER_Mouse1.03856038
126FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03842859
127JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.03024374
128SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.02654480
129TCF3_18692474_ChIP-Seq_MEFs_Mouse1.02549403
130KLF5_25053715_ChIP-Seq_YYC3_Human1.02491230
131FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02360288
132ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.01223985
133SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.00769502
134TP53_18474530_ChIP-ChIP_U2OS_Human1.00745879
135HTT_18923047_ChIP-ChIP_STHdh_Human1.00467753
136ZNF217_24962896_ChIP-Seq_MCF-7_Human0.99594445
137E2F1_21310950_ChIP-Seq_MCF-7_Human0.99375523
138SMC1_22415368_ChIP-Seq_MEFs_Mouse0.98680308
139ATF3_27146783_Chip-Seq_COLON_Human0.97539874
140NANOG_16153702_ChIP-ChIP_HESCs_Human0.96461819
141NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.96089059
142CDX2_22108803_ChIP-Seq_LS180_Human0.95441837
143NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.94828509
144CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.93752887
145MYC_18940864_ChIP-ChIP_HL60_Human0.93716108
146XRN2_22483619_ChIP-Seq_HELA_Human0.93677048
147PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.92884230
148BRD4_27068464_Chip-Seq_AML-cells_Mouse0.92773660
149EZH2_27294783_Chip-Seq_NPCs_Mouse0.92773365
150ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.92748954
151VDR_22108803_ChIP-Seq_LS180_Human0.92507526
152KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.92451295
153LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.92201766
154ERG_20887958_ChIP-Seq_HPC-7_Mouse0.90398716
155PU_27001747_Chip-Seq_BMDM_Mouse0.89988847
156POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.89761354
157CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.88542325
158P300_19829295_ChIP-Seq_ESCs_Human0.88215987
159STAT4_19710469_ChIP-ChIP_TH1__Mouse0.88103768
160THAP11_20581084_ChIP-Seq_MESCs_Mouse0.87773367
161GATA3_24758297_ChIP-Seq_MCF-7_Human0.87581682
162GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.87142892
163ESR1_20079471_ChIP-ChIP_T-47D_Human0.86988803
164CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.86336340
165FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.85583513
166SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84656225
167ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.84507228
168RACK7_27058665_Chip-Seq_MCF-7_Human0.83908332
169SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82447717
170FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.82367626
171RUNX1_27514584_Chip-Seq_MCF-7_Human0.81740822
172* SPI1_23547873_ChIP-Seq_NB4_Human0.81707873
173GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.81674362
174SA1_22415368_ChIP-Seq_MEFs_Mouse0.81529835
175FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.79686272
176VDR_24787735_ChIP-Seq_THP-1_Human0.77906144
177SMC3_22415368_ChIP-Seq_MEFs_Mouse0.77626063
178WT1_19549856_ChIP-ChIP_CCG9911_Human0.74600279
179FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.74288640
180UBF1/2_26484160_Chip-Seq_HMECs_Human0.74194262
181PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.73851002
182GATA6_25053715_ChIP-Seq_YYC3_Human0.73144187
183RUNX1_22412390_ChIP-Seq_EML_Mouse0.73058992
184LXR_22158963_ChIP-Seq_LIVER_Mouse0.71442039
185ZNF274_21170338_ChIP-Seq_K562_Hela0.71009932

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle5.33574711
2MP0005275_abnormal_skin_tensile3.62855199
3MP0006054_spinal_hemorrhage3.53066417
4MP0004957_abnormal_blastocyst_morpholog3.24870174
5MP0003693_abnormal_embryo_hatching3.04665804
6MP0002877_abnormal_melanocyte_morpholog2.69756828
7MP0003941_abnormal_skin_development2.64110777
8MP0002796_impaired_skin_barrier2.51112697
9MP0008438_abnormal_cutaneous_collagen2.50970224
10MP0008057_abnormal_DNA_replication2.29993216
11MP0008058_abnormal_DNA_repair2.26219969
12MP0009785_altered_susceptibility_to2.20564726
13MP0003705_abnormal_hypodermis_morpholog2.17258472
14MP0003191_abnormal_cellular_cholesterol2.12635621
15MP0001958_emphysema2.09054015
16MP0000372_irregular_coat_pigmentation2.05616064
17MP0003436_decreased_susceptibility_to1.92517058
18MP0001849_ear_inflammation1.90724242
19MP0010094_abnormal_chromosome_stability1.89236490
20MP0005408_hypopigmentation1.87009996
21MP0003566_abnormal_cell_adhesion1.86949204
22MP0009697_abnormal_copulation1.83316786
23MP0003077_abnormal_cell_cycle1.81391782
24MP0004947_skin_inflammation1.80147625
25MP0001879_abnormal_lymphatic_vessel1.79845917
26MP0003300_gastrointestinal_ulcer1.71915199
27MP0003724_increased_susceptibility_to1.68411815
28MP0003718_maternal_effect1.65402977
29MP0003111_abnormal_nucleus_morphology1.64794879
30MP0008004_abnormal_stomach_pH1.62617621
31MP0008932_abnormal_embryonic_tissue1.61880024
32MP0005464_abnormal_platelet_physiology1.61333395
33MP0009379_abnormal_foot_pigmentation1.61207552
34MP0002060_abnormal_skin_morphology1.60684940
35MP0003453_abnormal_keratinocyte_physiol1.60542330
36MP0005501_abnormal_skin_physiology1.59791678
37MP0008007_abnormal_cellular_replicative1.59476785
38MP0005058_abnormal_lysosome_morphology1.57209535
39MP0010352_gastrointestinal_tract_polyps1.56964726
40MP0006036_abnormal_mitochondrial_physio1.56564740
41MP0003279_aneurysm1.55888858
42MP0002148_abnormal_hypersensitivity_rea1.55532971
43MP0005248_abnormal_Harderian_gland1.55495878
44MP0010368_abnormal_lymphatic_system1.54107751
45MP0005360_urolithiasis1.53626889
46MP0010678_abnormal_skin_adnexa1.50943177
47MP0004272_abnormal_basement_membrane1.50610702
48MP0000343_altered_response_to1.48194709
49MP0005023_abnormal_wound_healing1.45595384
50MP0001851_eye_inflammation1.45462323
51MP0001533_abnormal_skeleton_physiology1.44044759
52MP0000516_abnormal_urinary_system1.43271190
53MP0005367_renal/urinary_system_phenotyp1.43271190
54MP0005165_increased_susceptibility_to1.42790910
55MP0003786_premature_aging1.40710999
56MP0000465_gastrointestinal_hemorrhage1.40623386
57MP0010155_abnormal_intestine_physiology1.40387847
58MP0005085_abnormal_gallbladder_physiolo1.39908113
59MP0003890_abnormal_embryonic-extraembry1.39468875
60MP0000647_abnormal_sebaceous_gland1.38934341
61MP0002254_reproductive_system_inflammat1.36064301
62MP0003075_altered_response_to1.33667676
63MP0003221_abnormal_cardiomyocyte_apopto1.33651329
64MP0001764_abnormal_homeostasis1.33440730
65MP0001853_heart_inflammation1.29022808
66MP0004782_abnormal_surfactant_physiolog1.28666445
67MP0001216_abnormal_epidermal_layer1.28545705
68MP0001873_stomach_inflammation1.27785887
69MP0002009_preneoplasia1.26563342
70MP0005025_abnormal_response_to1.24750332
71MP0001881_abnormal_mammary_gland1.23984890
72MP0001835_abnormal_antigen_presentation1.21881084
73MP0003195_calcinosis1.21725079
74MP0003329_amyloid_beta_deposits1.20676310
75MP0010307_abnormal_tumor_latency1.20230936
76MP0002419_abnormal_innate_immunity1.19627753
77MP0002295_abnormal_pulmonary_circulatio1.19599700
78MP0005397_hematopoietic_system_phenotyp1.19106007
79MP0001545_abnormal_hematopoietic_system1.19106007
80MP0005187_abnormal_penis_morphology1.16643411
81MP0009840_abnormal_foam_cell1.15101895
82MP0001666_abnormal_nutrient_absorption1.14913534
83MP0003303_peritoneal_inflammation1.14411109
84MP0000350_abnormal_cell_proliferation1.13909633
85MP0005166_decreased_susceptibility_to1.13901028
86MP0003186_abnormal_redox_activity1.11662511
87MP0000627_abnormal_mammary_gland1.11604924
88MP0002098_abnormal_vibrissa_morphology1.11281558
89MP0004264_abnormal_extraembryonic_tissu1.11005159
90MP0008875_abnormal_xenobiotic_pharmacok1.10784701
91MP0010386_abnormal_urinary_bladder1.10672655
92MP0009764_decreased_sensitivity_to1.09873462
93MP0000685_abnormal_immune_system1.09028886
94MP0010771_integument_phenotype1.08604639
95MP0005164_abnormal_response_to1.08260003
96MP0001243_abnormal_dermal_layer1.07971639
97MP0000604_amyloidosis1.07925890
98MP0002837_dystrophic_cardiac_calcinosis1.07763369
99MP0000377_abnormal_hair_follicle1.07511544
100MP0001730_embryonic_growth_arrest1.04650037
101MP0005410_abnormal_fertilization1.04495800
102MP0000538_abnormal_urinary_bladder1.03299307
103MP0004215_abnormal_myocardial_fiber1.01840833
104MP0004808_abnormal_hematopoietic_stem1.01829528
105MP0005084_abnormal_gallbladder_morpholo0.99820050
106MP0001542_abnormal_bone_strength0.98246199
107MP0002282_abnormal_trachea_morphology0.95819730
108MP0005000_abnormal_immune_tolerance0.95734890
109MP0001188_hyperpigmentation0.94970946
110MP0002166_altered_tumor_susceptibility0.94075266
111MP0004858_abnormal_nervous_system0.93529923
112MP0003806_abnormal_nucleotide_metabolis0.92602051
113MP0005390_skeleton_phenotype0.92564698
114MP0008873_increased_physiological_sensi0.91928735
115MP0001663_abnormal_digestive_system0.91841410
116MP0003950_abnormal_plasma_membrane0.90427201
117MP0003866_abnormal_defecation0.90260721
118MP0002452_abnormal_antigen_presenting0.89680105
119MP0000249_abnormal_blood_vessel0.89090376
120MP0006082_CNS_inflammation0.88114637
121MP0003868_abnormal_feces_composition0.88086761
122MP0000490_abnormal_crypts_of0.87974824
123MP0005075_abnormal_melanosome_morpholog0.85552399
124MP0001845_abnormal_inflammatory_respons0.85550504
125MP0005395_other_phenotype0.85385353
126MP0003045_fibrosis0.83935561
127MP0000681_abnormal_thyroid_gland0.83033000
128MP0001293_anophthalmia0.82936727
129MP0000537_abnormal_urethra_morphology0.82705402
130MP0009384_cardiac_valve_regurgitation0.82003184
131MP0001191_abnormal_skin_condition0.81875481
132MP0000358_abnormal_cell_content/0.81562615
133MP0000762_abnormal_tongue_morphology0.80993532
134MP0001697_abnormal_embryo_size0.80837610
135MP0008469_abnormal_protein_level0.80777536
136MP0003091_abnormal_cell_migration0.80477906
137MP0009643_abnormal_urine_homeostasis0.80209961
138MP0005365_abnormal_bile_salt0.80177665
139MP0002006_tumorigenesis0.77523536
140MP0005503_abnormal_tendon_morphology0.77476369
141MP0002090_abnormal_vision0.76230282
142MP0000383_abnormal_hair_follicle0.75690865
143MP0005167_abnormal_blood-brain_barrier0.74445560
144MP0003315_abnormal_perineum_morphology0.74002118
145MP0004147_increased_porphyrin_level0.72950896
146MP0005332_abnormal_amino_acid0.71703955
147MP0003828_pulmonary_edema0.71654531
148MP0002102_abnormal_ear_morphology0.70768474
149MP0002405_respiratory_system_inflammati0.70266346
150MP0001727_abnormal_embryo_implantation0.70222389
151MP0002723_abnormal_immune_serum0.70024802
152MP0002084_abnormal_developmental_patter0.69631063
153MP0002136_abnormal_kidney_physiology0.69430532
154MP0003448_altered_tumor_morphology0.69318926
155MP0002139_abnormal_hepatobiliary_system0.69127551
156MP0000313_abnormal_cell_death0.69051500
157MP0005319_abnormal_enzyme/_coenzyme0.68946446
158MP0005636_abnormal_mineral_homeostasis0.68192562
159MP0000467_abnormal_esophagus_morphology0.68120395
160MP0003567_abnormal_fetal_cardiomyocyte0.68038834
161MP0001672_abnormal_embryogenesis/_devel0.66429838
162MP0005380_embryogenesis_phenotype0.66429838
163MP0002080_prenatal_lethality0.63190000

Predicted human phenotypes

RankGene SetZ-score
1Lipid accumulation in hepatocytes (HP:0006561)4.01536898
2Increased hepatocellular lipid droplets (HP:0006565)3.92302239
3Right ventricular cardiomyopathy (HP:0011663)3.88141983
4Acute necrotizing encephalopathy (HP:0006965)3.56719225
5Abnormality of the nasal mucosa (HP:0000433)3.44931183
6Abnormality of the anterior horn cell (HP:0006802)3.42724276
7Degeneration of anterior horn cells (HP:0002398)3.42724276
8Vacuolated lymphocytes (HP:0001922)3.36662232
9Abnormal mitochondria in muscle tissue (HP:0008316)3.30660705
10Protrusio acetabuli (HP:0003179)3.22930812
11Interstitial pulmonary disease (HP:0006530)3.21406079
12Eczematoid dermatitis (HP:0000976)3.19195466
13Progressive macrocephaly (HP:0004481)3.18691235
14Acute encephalopathy (HP:0006846)2.98764403
15Nasal polyposis (HP:0100582)2.98502421
16Patchy hypopigmentation of hair (HP:0011365)2.94715295
17Atrophic scars (HP:0001075)2.91861621
18Mitochondrial inheritance (HP:0001427)2.90314424
19Abnormality of methionine metabolism (HP:0010901)2.89909265
20Renal Fanconi syndrome (HP:0001994)2.89312535
21Increased IgE level (HP:0003212)2.88863301
22Increased CSF lactate (HP:0002490)2.88003060
23Decreased activity of mitochondrial respiratory chain (HP:0008972)2.86207207
24Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.86207207
25Increased intramyocellular lipid droplets (HP:0012240)2.84712917
26Onycholysis (HP:0001806)2.84133763
27Increased cerebral lipofuscin (HP:0011813)2.82562014
28Abnormality of aspartate family amino acid metabolism (HP:0010899)2.82325323
29Retinal dysplasia (HP:0007973)2.78038744
30Cerebral edema (HP:0002181)2.77045643
31Vertebral compression fractures (HP:0002953)2.76981766
32Posterior subcapsular cataract (HP:0007787)2.74340734
33Increased neuronal autofluorescent lipopigment (HP:0002074)2.72982589
34Sparse eyelashes (HP:0000653)2.69261360
35Abnormality of macrophages (HP:0004311)2.65837788
36Increased muscle lipid content (HP:0009058)2.62708346
37Fragile nails (HP:0001808)2.62398733
38Chronic otitis media (HP:0000389)2.62216523
39Neoplasm of head and neck (HP:0012288)2.59079634
40Esophageal neoplasm (HP:0100751)2.59079634
41Beaking of vertebral bodies (HP:0004568)2.58844247
42Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.54196260
43Papillary thyroid carcinoma (HP:0002895)2.52737848
44Symptomatic seizures (HP:0011145)2.50881409
45Milia (HP:0001056)2.47206422
46Multiple enchondromatosis (HP:0005701)2.45381757
47Hyperinsulinemic hypoglycemia (HP:0000825)2.45170809
48Elevated erythrocyte sedimentation rate (HP:0003565)2.45021391
49Type I transferrin isoform profile (HP:0003642)2.42648233
50Steatorrhea (HP:0002570)2.40893293
51Thin bony cortex (HP:0002753)2.40303253
52Aplastic anemia (HP:0001915)2.37594585
53Erythema (HP:0010783)2.37291438
54Vascular tortuosity (HP:0004948)2.37171608
55Thrombocytosis (HP:0001894)2.37067299
56Abnormality of renal resorption (HP:0011038)2.36225185
57Hypoglycemic coma (HP:0001325)2.34723594
58Exertional dyspnea (HP:0002875)2.34066317
59Abnormality of serum amino acid levels (HP:0003112)2.32517060
60Hepatocellular necrosis (HP:0001404)2.32401711
61Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.32046676
62Aortic aneurysm (HP:0004942)2.31511331
63Abnormality of placental membranes (HP:0011409)2.31462807
64Amniotic constriction ring (HP:0009775)2.31462807
65Arterial tortuosity (HP:0005116)2.28381631
66Type II lissencephaly (HP:0007260)2.27829461
67Hepatic necrosis (HP:0002605)2.26820634
68Fragile skin (HP:0001030)2.26187907
69Abnormality of alanine metabolism (HP:0010916)2.24184062
70Hyperalaninemia (HP:0003348)2.24184062
71Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.24184062
72Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.23979457
73Axonal loss (HP:0003447)2.21062476
74Aortic dissection (HP:0002647)2.20878028
75Oral leukoplakia (HP:0002745)2.20619924
76Woolly hair (HP:0002224)2.19388913
77Hypotrichosis (HP:0001006)2.19264519
78Chronic bronchitis (HP:0004469)2.19138132
79Intrahepatic cholestasis (HP:0001406)2.17716608
80Dysostosis multiplex (HP:0000943)2.17181834
81Nausea (HP:0002018)2.16073646
82Plantar hyperkeratosis (HP:0007556)2.16048462
83Congenital, generalized hypertrichosis (HP:0004540)2.14819488
84Abnormal hemoglobin (HP:0011902)2.14073558
85Respiratory failure (HP:0002878)2.13783505
86Lethargy (HP:0001254)2.12787448
87Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.12688349
88Abnormal protein N-linked glycosylation (HP:0012347)2.12688349
89Abnormal protein glycosylation (HP:0012346)2.12688349
90Abnormal glycosylation (HP:0012345)2.12688349
91Micronodular cirrhosis (HP:0001413)2.12661845
92Premature rupture of membranes (HP:0001788)2.11718610
93Reduced antithrombin III activity (HP:0001976)2.11342011
94Peritonitis (HP:0002586)2.11111345
95Myositis (HP:0100614)2.10340971
96Megaloblastic anemia (HP:0001889)2.08722465
97Hyperactive renin-angiotensin system (HP:0000841)2.08287844
98* Diminished motivation (HP:0000745)2.07679759
99Sensory axonal neuropathy (HP:0003390)2.07537874
100Nonimmune hydrops fetalis (HP:0001790)2.07189744
101Fat malabsorption (HP:0002630)2.05687695
102Methylmalonic acidemia (HP:0002912)2.05593288
103Abnormality of the vitamin B12 metabolism (HP:0004341)2.05171473
104Median cleft lip (HP:0000161)2.05146388
105Increased serum lactate (HP:0002151)2.05012204
106Respiratory difficulties (HP:0002880)2.04823812
107Hypoglycemic seizures (HP:0002173)2.04774765
108Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.04468967
109Lactic acidosis (HP:0003128)2.03958645
110White forelock (HP:0002211)2.03870656
111Abnormality of vitamin B metabolism (HP:0004340)2.03803317
112Hydroxyprolinuria (HP:0003080)2.03549102
113Abnormality of proline metabolism (HP:0010907)2.03549102
114Exercise intolerance (HP:0003546)2.02655514
115Rhabdomyosarcoma (HP:0002859)2.02627598
116Thyroid carcinoma (HP:0002890)2.02389023
117Atrophy/Degeneration involving motor neurons (HP:0007373)2.01503913
118Chronic diarrhea (HP:0002028)2.01473894
119Conjugated hyperbilirubinemia (HP:0002908)1.99365761
120Abnormality of urine glucose concentration (HP:0011016)1.96417870
121Glycosuria (HP:0003076)1.96417870
122Increased serum ferritin (HP:0003281)1.95556388
123Petechiae (HP:0000967)1.94743450
124Abnormal albumin level (HP:0012116)1.93452829
125Hypoalbuminemia (HP:0003073)1.93452829
126Abnormality of aromatic amino acid family metabolism (HP:0004338)1.92847519
127Biliary tract neoplasm (HP:0100574)1.92812600
128Breast carcinoma (HP:0003002)1.92436426
129Autoamputation (HP:0001218)1.91876303
130Hyperparathyroidism (HP:0000843)1.90960165
131Orchitis (HP:0100796)1.90275474
132Cervical subluxation (HP:0003308)1.88356372
133Mucopolysacchariduria (HP:0008155)1.87319956
134Urinary glycosaminoglycan excretion (HP:0003541)1.87319956
135Hyperphosphaturia (HP:0003109)1.85922416
136Neurofibrillary tangles (HP:0002185)1.82780927
137Hypergammaglobulinemia (HP:0010702)1.82349106
138Abnormalities of placenta or umbilical cord (HP:0001194)1.82190487
139Long clavicles (HP:0000890)1.81764728
140Tetraparesis (HP:0002273)1.81363920
141Leukodystrophy (HP:0002415)1.81330778
142Asymmetric septal hypertrophy (HP:0001670)1.80729008
143Abnormal biliary tract morphology (HP:0012440)1.80561877
144Stenosis of the external auditory canal (HP:0000402)1.80265477
145Increased serum pyruvate (HP:0003542)1.79749279
146Hematochezia (HP:0002573)1.78390644
147Aplasia/hypoplasia of the uterus (HP:0008684)1.77372524
148Cerebral hemorrhage (HP:0001342)1.77089708
149Multiple lipomas (HP:0001012)1.76734528
150Malnutrition (HP:0004395)1.75417289
151Volvulus (HP:0002580)1.74713964
152Congenital ichthyosiform erythroderma (HP:0007431)1.74305348
153Microcytic anemia (HP:0001935)1.74283661
154Palpitations (HP:0001962)1.73653826
155Lower limb hyperreflexia (HP:0002395)1.72827951
156Macrocytic anemia (HP:0001972)1.72706096
157Polygenic inheritance (HP:0010982)1.72569871
158Neoplasm of the small intestine (HP:0100833)1.71579805
159Uterine neoplasm (HP:0010784)1.70821417
160Stridor (HP:0010307)1.70523036
161Hypothermia (HP:0002045)1.69965543
162Abnormality of glutamine family amino acid metabolism (HP:0010902)1.69908507
163Chronic sinusitis (HP:0011109)1.68696189
164Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.68144257
165Dilatation of the ascending aorta (HP:0005111)1.67793901
166Abnormality of cells of the erythroid lineage (HP:0012130)1.67467106
167Bronchitis (HP:0012387)1.66368491
168Abnormal number of erythroid precursors (HP:0012131)1.65787711
169Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.64407603
170Conjunctival hamartoma (HP:0100780)1.64284814
171Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.64277457
172Ectopia lentis (HP:0001083)1.63020459
173Osteolytic defects of the hand bones (HP:0009699)1.60391127
174Osteolytic defects of the phalanges of the hand (HP:0009771)1.60391127
175Abnormal platelet function (HP:0011869)1.59963639
176Impaired platelet aggregation (HP:0003540)1.59963639
177Segmental peripheral demyelination/remyelination (HP:0003481)1.59658709
178Abnormality of the pericardium (HP:0001697)1.57709069
179Distal arthrogryposis (HP:0005684)1.56805216
180Recurrent gram-negative bacterial infections (HP:0005420)1.56482054
181Proximal tubulopathy (HP:0000114)1.55054559
182Abnormality of the distal phalanges of the toes (HP:0010182)1.54171686
183Generalized amyotrophy (HP:0003700)1.53633663
184Abnormality of the vasculature of the conjunctiva (HP:0008054)1.53516528
185Episodic fever (HP:0001954)1.53182331
186Pili torti (HP:0003777)1.52541490
187Facial diplegia (HP:0001349)1.52480429
188Hypochromic anemia (HP:0001931)1.50912571
189Autoimmune hemolytic anemia (HP:0001890)1.50388791
190Abnormality of transition element cation homeostasis (HP:0011030)1.50118893

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK33.64131767
2PIM23.30762228
3TESK13.14580237
4EIF2AK12.83010971
5NEK12.80158062
6TRIM282.78852544
7BUB12.48820076
8SRPK12.34989330
9ACVR1B2.34913184
10MAPKAPK32.33549649
11EPHA32.33262311
12MAP3K122.22870714
13TGFBR22.18130174
14BCR2.12586061
15RIPK42.03222584
16KDR2.02662780
17SCYL21.97316976
18TIE11.97194165
19ARAF1.96203217
20MST41.92116548
21FER1.89799347
22STK38L1.89729080
23MAPKAPK51.86530658
24LIMK11.84926358
25FRK1.84417885
26ERN11.80935449
27MUSK1.79492568
28TTK1.78417786
29NME21.77580198
30ERBB31.77365634
31STK391.75301450
32WEE11.74682397
33TBK11.71929908
34TGFBR11.67301545
35TSSK61.67131151
36LRRK21.64920947
37BRSK21.63048175
38BMPR21.58270268
39EPHB11.58151339
40PRKG21.54452694
41MAP3K111.52437996
42MKNK21.52323483
43KIT1.50305014
44PLK31.48795895
45STK161.45397406
46EPHA21.43395744
47MATK1.41305208
48KSR21.40527433
49PDK31.37254753
50PDK41.37254753
51CAMKK21.34854569
52MKNK11.31356898
53TRIB31.28147262
54MST1R1.27767740
55STK31.26872901
56MAP3K21.24290879
57FLT31.21821136
58MAP3K31.17217476
59FGFR41.14766961
60EIF2AK21.13872405
61MAP3K131.12945330
62PDK21.12841352
63STK241.11787098
64CDC71.11084322
65TYK21.11032865
66NUAK11.10865181
67MAP2K61.10384251
68CSNK1G11.08953371
69ERBB41.07952316
70OXSR11.07395719
71LATS11.06080265
72PLK11.06066314
73LMTK21.05471992
74MAP3K11.05064231
75DYRK1B1.03039187
76EEF2K1.02977961
77PLK41.02384465
78BMPR1B1.02344624
79SIK31.01695159
80BCKDK1.00692024
81RPS6KA41.00449609
82ILK0.98435326
83CSNK1G30.95242017
84PASK0.94931225
85PBK0.94922890
86MYLK0.94781311
87DDR20.90006665
88PKN20.86689395
89PTK60.85781113
90RIPK10.85346126
91JAK10.85046269
92CSNK1G20.84086046
93TRPM70.84007841
94DYRK30.83739994
95ZAP700.83635859
96BLK0.83099807
97NTRK10.82334360
98MAP2K10.82158010
99RAF10.78487630
100LATS20.78468996
101ABL20.77241276
102CSNK1A1L0.75228721
103PLK20.71865481
104PDGFRA0.71687259
105RPS6KB20.70782256
106CDK60.69467231
107PTK2B0.68816649
108MINK10.68403523
109PAK30.68149372
110NLK0.66556082
111MOS0.65940622
112RET0.63658742
113TNIK0.63272824
114MAP3K140.62790401
115MAP3K90.61522747
116STK100.61039202
117HIPK20.60817468
118MAP2K30.59856637
119JAK30.59184988
120GRK70.57827703
121IRAK10.57728914
122CDK190.57355366
123NME10.56672734
124PAK40.55816599
125CSF1R0.55423771
126MET0.55219961
127NEK60.55175339
128VRK20.53455371
129PTK20.50796561
130IKBKE0.49596275
131ALK0.48659355
132YES10.47835570
133SYK0.47687619
134MAP2K20.47584010
135AURKB0.47559001
136CAMK2D0.46740291
137PIK3CA0.46449965
138CAMKK10.45082068
139IRAK30.44788588
140CSNK2A10.44414873
141MAP3K50.43564672
142MAPKAPK20.42198758
143PIK3CG0.40744286
144BRSK10.40583395
145FGFR30.40577130
146FGFR10.40422234
147KSR10.39819536
148PRKCE0.39005904
149CSNK2A20.38654332
150VRK10.34166152
151MAPK150.34136387
152IKBKB0.33689694
153TEC0.31752982
154BTK0.31630419
155TTN0.31208734
156EGFR0.30172952
157FGR0.30038394
158GRK10.29495977
159MAP3K80.27782403
160CSNK1E0.24514045
161DMPK0.24189357
162ATM0.23270378
163CAMK2G0.23069230
164DAPK10.22572305
165NEK20.22263346

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.74508100
2Oxidative phosphorylation_Homo sapiens_hsa001902.61501118
3Caffeine metabolism_Homo sapiens_hsa002322.49444548
4Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.45757110
5Mismatch repair_Homo sapiens_hsa034302.25227585
6Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.20844485
7Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.19200921
8Parkinsons disease_Homo sapiens_hsa050122.13042983
9Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.94799658
10Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.89958427
11Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.89235680
12RNA transport_Homo sapiens_hsa030131.85729419
13Shigellosis_Homo sapiens_hsa051311.76948930
14Salmonella infection_Homo sapiens_hsa051321.75863475
15Spliceosome_Homo sapiens_hsa030401.67883704
16Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.67724836
17DNA replication_Homo sapiens_hsa030301.60369114
18Leukocyte transendothelial migration_Homo sapiens_hsa046701.57635715
19Legionellosis_Homo sapiens_hsa051341.56160249
20Cysteine and methionine metabolism_Homo sapiens_hsa002701.53219247
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.51721806
22Huntingtons disease_Homo sapiens_hsa050161.51441111
23Pentose and glucuronate interconversions_Homo sapiens_hsa000401.50902512
24Fatty acid elongation_Homo sapiens_hsa000621.50589252
25Pertussis_Homo sapiens_hsa051331.50540152
26SNARE interactions in vesicular transport_Homo sapiens_hsa041301.46085799
27RNA polymerase_Homo sapiens_hsa030201.45620493
28Basal transcription factors_Homo sapiens_hsa030221.45530479
29Glutathione metabolism_Homo sapiens_hsa004801.44732056
30Vibrio cholerae infection_Homo sapiens_hsa051101.43403120
31Leishmaniasis_Homo sapiens_hsa051401.39371248
32Folate biosynthesis_Homo sapiens_hsa007901.38200951
33Non-homologous end-joining_Homo sapiens_hsa034501.35039668
34Nucleotide excision repair_Homo sapiens_hsa034201.33358767
35Sulfur metabolism_Homo sapiens_hsa009201.32370726
36Malaria_Homo sapiens_hsa051441.31362487
37Lysosome_Homo sapiens_hsa041421.31324832
38Homologous recombination_Homo sapiens_hsa034401.28175141
39Phagosome_Homo sapiens_hsa041451.27260878
40Platelet activation_Homo sapiens_hsa046111.25900158
41Alzheimers disease_Homo sapiens_hsa050101.25848691
42Cell cycle_Homo sapiens_hsa041101.24240440
43Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.23891701
44Protein export_Homo sapiens_hsa030601.23734902
45Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.22082587
46Sulfur relay system_Homo sapiens_hsa041221.19552496
47Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.19124608
48Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.17911159
49ECM-receptor interaction_Homo sapiens_hsa045121.17740182
50Chemical carcinogenesis_Homo sapiens_hsa052041.17359392
51Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.16469652
52Galactose metabolism_Homo sapiens_hsa000521.16214213
53Amoebiasis_Homo sapiens_hsa051461.13652237
54Mineral absorption_Homo sapiens_hsa049781.13139153
55RNA degradation_Homo sapiens_hsa030181.12277241
56TNF signaling pathway_Homo sapiens_hsa046681.12111054
57Pyrimidine metabolism_Homo sapiens_hsa002401.12024921
58Histidine metabolism_Homo sapiens_hsa003401.11771368
59Toxoplasmosis_Homo sapiens_hsa051451.11707524
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.08978087
61Propanoate metabolism_Homo sapiens_hsa006401.06689908
62Renin-angiotensin system_Homo sapiens_hsa046141.04689145
63Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.04555160
64p53 signaling pathway_Homo sapiens_hsa041151.03862198
65Thyroid cancer_Homo sapiens_hsa052161.03691385
66Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.02879560
67Osteoclast differentiation_Homo sapiens_hsa043801.02749138
68N-Glycan biosynthesis_Homo sapiens_hsa005101.01671752
69AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.01157163
70Bladder cancer_Homo sapiens_hsa052191.00992983
71Steroid biosynthesis_Homo sapiens_hsa001001.00520223
72Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.99603135
73Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98496870
74Pyruvate metabolism_Homo sapiens_hsa006200.98455076
75Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.98335101
76Rheumatoid arthritis_Homo sapiens_hsa053230.97087109
77Sphingolipid metabolism_Homo sapiens_hsa006000.96820684
78Selenocompound metabolism_Homo sapiens_hsa004500.94764807
79Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.94753826
80Drug metabolism - other enzymes_Homo sapiens_hsa009830.93795642
81Focal adhesion_Homo sapiens_hsa045100.93169545
82Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.93075341
83VEGF signaling pathway_Homo sapiens_hsa043700.92996940
84Vitamin B6 metabolism_Homo sapiens_hsa007500.92137462
85Base excision repair_Homo sapiens_hsa034100.91615775
86Other glycan degradation_Homo sapiens_hsa005110.90892916
87Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.90073044
88Carbon metabolism_Homo sapiens_hsa012000.88743233
89Tuberculosis_Homo sapiens_hsa051520.88737404
90Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87977035
91Hepatitis C_Homo sapiens_hsa051600.85777444
92Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85395854
93Fatty acid degradation_Homo sapiens_hsa000710.85122550
94B cell receptor signaling pathway_Homo sapiens_hsa046620.84941871
95Glycosaminoglycan degradation_Homo sapiens_hsa005310.82385843
96Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.82321927
97Regulation of autophagy_Homo sapiens_hsa041400.81987487
98Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.81400488
99Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.81137213
100African trypanosomiasis_Homo sapiens_hsa051430.80132896
101PPAR signaling pathway_Homo sapiens_hsa033200.78608292
102Arachidonic acid metabolism_Homo sapiens_hsa005900.78252360
103Fat digestion and absorption_Homo sapiens_hsa049750.78058316
104Toll-like receptor signaling pathway_Homo sapiens_hsa046200.76232285
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.74757168
106Starch and sucrose metabolism_Homo sapiens_hsa005000.73788551
107Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.73613403
108Proteoglycans in cancer_Homo sapiens_hsa052050.73359286
109Pentose phosphate pathway_Homo sapiens_hsa000300.72421171
110One carbon pool by folate_Homo sapiens_hsa006700.68772340
111Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.67134748
112Metabolic pathways_Homo sapiens_hsa011000.66827852
113* Endocytosis_Homo sapiens_hsa041440.66268741
114Purine metabolism_Homo sapiens_hsa002300.65948953
115Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65547640
116Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.64635308
117Vitamin digestion and absorption_Homo sapiens_hsa049770.64550084
118Oocyte meiosis_Homo sapiens_hsa041140.62607375
119Peroxisome_Homo sapiens_hsa041460.62006054
120Protein digestion and absorption_Homo sapiens_hsa049740.61210277
121NOD-like receptor signaling pathway_Homo sapiens_hsa046210.60674656
122Primary bile acid biosynthesis_Homo sapiens_hsa001200.60100105
123Proteasome_Homo sapiens_hsa030500.60099102
124Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.59381940
125mRNA surveillance pathway_Homo sapiens_hsa030150.59039854
126Tight junction_Homo sapiens_hsa045300.58210963
127Influenza A_Homo sapiens_hsa051640.57720654
128Circadian rhythm_Homo sapiens_hsa047100.57610887
129Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.55679870
130Arginine biosynthesis_Homo sapiens_hsa002200.55410061
131Ribosome_Homo sapiens_hsa030100.53739697
132RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.52699212
133Collecting duct acid secretion_Homo sapiens_hsa049660.52640315
134Central carbon metabolism in cancer_Homo sapiens_hsa052300.52328800
135Rap1 signaling pathway_Homo sapiens_hsa040150.51706806
136Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.50741342
137Gastric acid secretion_Homo sapiens_hsa049710.50347813
138Acute myeloid leukemia_Homo sapiens_hsa052210.50256902
139Neurotrophin signaling pathway_Homo sapiens_hsa047220.49093399
140Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.48887472
141Thyroid hormone synthesis_Homo sapiens_hsa049180.48444972
142Nitrogen metabolism_Homo sapiens_hsa009100.48418125
143Arginine and proline metabolism_Homo sapiens_hsa003300.48168071
144TGF-beta signaling pathway_Homo sapiens_hsa043500.47601408
145Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.46607509
146Cyanoamino acid metabolism_Homo sapiens_hsa004600.46597154
147Antigen processing and presentation_Homo sapiens_hsa046120.45934426
148Adipocytokine signaling pathway_Homo sapiens_hsa049200.44067903
149Retinol metabolism_Homo sapiens_hsa008300.43862899
150Biosynthesis of amino acids_Homo sapiens_hsa012300.43356571
151Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42842270
152Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.42525832
153Steroid hormone biosynthesis_Homo sapiens_hsa001400.41812634
154Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.40871149
155alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.40419184
156Adherens junction_Homo sapiens_hsa045200.39939498
157Tyrosine metabolism_Homo sapiens_hsa003500.38476205
158Asthma_Homo sapiens_hsa053100.36759015

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