ATP1B3

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





Description: The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)5.77158200
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.54143181
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.54143181
4positive regulation of gamma-delta T cell activation (GO:0046645)4.69249726
5antigen processing and presentation of endogenous antigen (GO:0019883)4.56735311
6leukocyte aggregation (GO:0070486)4.51871772
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.49973728
8ribosomal small subunit biogenesis (GO:0042274)4.38372468
9protein maturation by protein folding (GO:0022417)4.16717402
10positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.15645562
11maturation of SSU-rRNA (GO:0030490)4.08886462
12neutrophil activation involved in immune response (GO:0002283)4.00864428
13T cell migration (GO:0072678)3.99471479
14negative regulation of cell killing (GO:0031342)3.93034524
15negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.93034524
16proteasome assembly (GO:0043248)3.91770467
17establishment of integrated proviral latency (GO:0075713)3.76224023
18negative T cell selection (GO:0043383)3.76112733
19maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.75904024
20mast cell activation (GO:0045576)3.75398540
21ribosomal large subunit biogenesis (GO:0042273)3.72428852
22negative thymic T cell selection (GO:0045060)3.69972268
23establishment of protein localization to mitochondrial membrane (GO:0090151)3.67465316
24regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.63236223
25nucleobase-containing small molecule interconversion (GO:0015949)3.61814560
26positive thymic T cell selection (GO:0045059)3.57435205
27protein retention in ER lumen (GO:0006621)3.54526316
28formation of translation preinitiation complex (GO:0001731)3.51554349
29respiratory burst (GO:0045730)3.50705576
30mitotic chromosome condensation (GO:0007076)3.50536941
31chaperone-mediated protein transport (GO:0072321)3.50158890
32membrane raft organization (GO:0031579)3.47848061
33SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.45854567
34DNA unwinding involved in DNA replication (GO:0006268)3.45490732
35cotranslational protein targeting to membrane (GO:0006613)3.41684330
36positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.41590646
37DNA strand elongation involved in DNA replication (GO:0006271)3.41299273
38protein targeting to ER (GO:0045047)3.39959038
39mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.38128272
40ribosomal small subunit assembly (GO:0000028)3.36006264
41regulation of gamma-delta T cell differentiation (GO:0045586)3.35015546
42translational termination (GO:0006415)3.34422253
43DNA strand elongation (GO:0022616)3.33024383
44ribonucleoprotein complex biogenesis (GO:0022613)3.32365459
45chromatin remodeling at centromere (GO:0031055)3.29706192
46establishment of protein localization to endoplasmic reticulum (GO:0072599)3.27815895
47thymic T cell selection (GO:0045061)3.27785702
48interferon-gamma production (GO:0032609)3.26691558
49regulation of B cell receptor signaling pathway (GO:0050855)3.25537030
50CENP-A containing nucleosome assembly (GO:0034080)3.25301400
51protein localization to endoplasmic reticulum (GO:0070972)3.24407309
52Arp2/3 complex-mediated actin nucleation (GO:0034314)3.21976504
53positive regulation by symbiont of host defense response (GO:0052509)3.21127809
54modulation by symbiont of host defense response (GO:0052031)3.21127809
55modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.21127809
56modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.21127809
57positive regulation by organism of defense response of other organism involved in symbiotic interact3.21127809
58modulation by symbiont of host immune response (GO:0052553)3.21127809
59mitotic metaphase plate congression (GO:0007080)3.21110691
60leukocyte cell-cell adhesion (GO:0007159)3.19352058
61ribosome assembly (GO:0042255)3.18668577
62negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.18327470
63regulation of isotype switching to IgG isotypes (GO:0048302)3.17226923
64protein localization to chromosome, centromeric region (GO:0071459)3.16774318
65telomere maintenance via semi-conservative replication (GO:0032201)3.16463206
66axon ensheathment in central nervous system (GO:0032291)3.15653885
67central nervous system myelination (GO:0022010)3.15653885
68sequestering of actin monomers (GO:0042989)3.14352797
69immunoglobulin mediated immune response (GO:0016064)3.10466602
70nuclear envelope reassembly (GO:0031468)3.10335202
71mitotic nuclear envelope reassembly (GO:0007084)3.10335202
72activated T cell proliferation (GO:0050798)3.10295463
73protein complex localization (GO:0031503)3.10150731
74protein localization to kinetochore (GO:0034501)3.10104377
75establishment of viral latency (GO:0019043)3.09239617
76negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.09225583
77negative regulation of ligase activity (GO:0051352)3.09225583
78purine nucleobase biosynthetic process (GO:0009113)3.08122370
79regulation of gamma-delta T cell activation (GO:0046643)3.06222006
80regulation of T cell tolerance induction (GO:0002664)3.05765527
81desmosome organization (GO:0002934)3.05021823
82tolerance induction (GO:0002507)3.04137426
83de novo protein folding (GO:0006458)3.03116055
84neutrophil activation (GO:0042119)3.03063984
85COPI coating of Golgi vesicle (GO:0048205)3.01378964
86Golgi transport vesicle coating (GO:0048200)3.01378964
87positive regulation of lamellipodium assembly (GO:0010592)3.00786332
88heterotypic cell-cell adhesion (GO:0034113)2.99570053
89nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.99063019
90ATP synthesis coupled proton transport (GO:0015986)2.98393053
91energy coupled proton transport, down electrochemical gradient (GO:0015985)2.98393053
92granulocyte activation (GO:0036230)2.97153226
93cellular protein complex localization (GO:0034629)2.96201772
94myeloid cell activation involved in immune response (GO:0002275)2.95744204
95type I interferon signaling pathway (GO:0060337)2.95206518
96cellular response to type I interferon (GO:0071357)2.95206518
97response to type I interferon (GO:0034340)2.95191186
98regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.93736473
99translational initiation (GO:0006413)2.93068139
100heterochromatin organization (GO:0070828)2.93055665
101translation (GO:0006412)2.93014562
102DNA replication checkpoint (GO:0000076)2.92476844
103T cell receptor signaling pathway (GO:0050852)2.91638618
104positive regulation of isotype switching (GO:0045830)2.90567051
105anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.90305828
106ribosome biogenesis (GO:0042254)2.89956037
107de novo posttranslational protein folding (GO:0051084)2.89279847
108tRNA aminoacylation for protein translation (GO:0006418)2.85189592
109response to interleukin-15 (GO:0070672)2.85148849
110T cell selection (GO:0045058)2.84663238
111viral life cycle (GO:0019058)2.83528662
112mast cell activation involved in immune response (GO:0002279)2.83200903
113mast cell degranulation (GO:0043303)2.83200903
114T cell costimulation (GO:0031295)2.82558716
115regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.82139380
116positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.81994351
117cellular extravasation (GO:0045123)2.81776481
118translational elongation (GO:0006414)2.81167645
119positive regulation of tolerance induction (GO:0002645)2.80819812
120lymphocyte costimulation (GO:0031294)2.78082853
121regulation of type I interferon-mediated signaling pathway (GO:0060338)2.77581194
122negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.77173838
123protein localization to endosome (GO:0036010)2.75615018
124positive regulation of macrophage differentiation (GO:0045651)2.75307475
125regulation of mitochondrial translation (GO:0070129)2.74959418
126leukocyte degranulation (GO:0043299)2.74329832
127amino acid activation (GO:0043038)2.73470760
128tRNA aminoacylation (GO:0043039)2.73470760
129nuclear pore complex assembly (GO:0051292)2.73204443
130deoxyribonucleotide biosynthetic process (GO:0009263)2.73063537
131antigen processing and presentation via MHC class Ib (GO:0002475)2.72909876
132positive regulation of alpha-beta T cell proliferation (GO:0046641)2.72710839
133nucleobase biosynthetic process (GO:0046112)2.72436502
134ncRNA 3-end processing (GO:0043628)2.72090774
135cell adhesion mediated by integrin (GO:0033627)2.71992963
136IMP biosynthetic process (GO:0006188)2.71609276
137regulation of translational fidelity (GO:0006450)2.71470341
138regulation of translational termination (GO:0006449)2.71423096
139antigen receptor-mediated signaling pathway (GO:0050851)2.70166667
140oxidative phosphorylation (GO:0006119)2.68239748
141positive T cell selection (GO:0043368)2.68140071
142bundle of His cell to Purkinje myocyte communication (GO:0086069)2.68115291
143cellular protein complex disassembly (GO:0043624)2.67899852
144pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.66695098
145protein targeting to mitochondrion (GO:0006626)2.66575035
146lymphocyte migration (GO:0072676)2.66264009
147regulation of interleukin-12 biosynthetic process (GO:0045075)2.65799883
148regulation of alpha-beta T cell proliferation (GO:0046640)2.64745494
149regulation of T cell receptor signaling pathway (GO:0050856)2.64735617
150JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.63989459
151rRNA processing (GO:0006364)2.62470352
152localization within membrane (GO:0051668)2.61602118
153B cell receptor signaling pathway (GO:0050853)2.61543944
154regulation of tolerance induction (GO:0002643)2.61394619
155interferon-gamma-mediated signaling pathway (GO:0060333)2.61195239
156positive regulation of antigen processing and presentation (GO:0002579)2.58601432
157positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.58404547
158negative regulation of T cell mediated immunity (GO:0002710)2.58387974
159regulation of hypersensitivity (GO:0002883)2.58337623
160histone arginine methylation (GO:0034969)2.57475235
161metaphase plate congression (GO:0051310)2.57387599
162cellular response to interleukin-15 (GO:0071350)2.57150112
163nuclear pore organization (GO:0006999)2.56752423
164protein localization to mitochondrion (GO:0070585)2.56190579
165mitotic sister chromatid segregation (GO:0000070)2.55879306
166negative regulation of RNA splicing (GO:0033119)2.54995241
167DNA replication-independent nucleosome assembly (GO:0006336)2.54621767
168DNA replication-independent nucleosome organization (GO:0034724)2.54621767
169regulation of vitamin D biosynthetic process (GO:0060556)2.54037098
170positive regulation of B cell differentiation (GO:0045579)2.53858860
171natural killer cell differentiation (GO:0001779)2.53598699
172positive regulation of interleukin-2 production (GO:0032743)2.53485284
173telomere maintenance via recombination (GO:0000722)2.53295283
174cellular component biogenesis (GO:0044085)2.53203204
175pore complex assembly (GO:0046931)2.51802479
176histone exchange (GO:0043486)2.51691545
177positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.50646497
178natural killer cell activation (GO:0030101)2.50271250
179protein targeting to membrane (GO:0006612)2.49814421
180negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.49323076
181regulation of ubiquitin-protein transferase activity (GO:0051438)2.49120366
182L-serine metabolic process (GO:0006563)2.49011966
183myeloid cell homeostasis (GO:0002262)2.48685446
184myeloid dendritic cell activation (GO:0001773)2.48344864
185protein neddylation (GO:0045116)2.48208550
186regulation of B cell differentiation (GO:0045577)2.47902221
187response to muramyl dipeptide (GO:0032495)2.47387849
188regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.46731049
189membrane protein intracellular domain proteolysis (GO:0031293)2.43457011
190positive regulation of DNA recombination (GO:0045911)2.43274032
191regulation of interleukin-2 biosynthetic process (GO:0045076)2.42292419
192regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.41491447
193regulation of natural killer cell mediated immunity (GO:0002715)2.41491447
194myeloid leukocyte activation (GO:0002274)2.41447917
195positive regulation of interferon-alpha production (GO:0032727)2.40683217
196viral transcription (GO:0019083)2.40495847
197positive regulation of immunoglobulin mediated immune response (GO:0002891)2.39378476
198positive regulation of B cell mediated immunity (GO:0002714)2.39378476

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.22566194
2IRF8_21731497_ChIP-ChIP_J774_Mouse4.48577196
3* MYC_18555785_ChIP-Seq_MESCs_Mouse4.48277961
4IRF8_22096565_ChIP-ChIP_GC-B_Human4.20958415
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.46318734
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.28252062
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.27431830
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.14732045
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.04015674
10TP63_17297297_ChIP-ChIP_HaCaT_Human2.99201684
11IRF8_27001747_Chip-Seq_BMDM_Mouse2.97650997
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.95659360
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.93419423
14* STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.90786759
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.89254245
16MYC_19079543_ChIP-ChIP_MESCs_Mouse2.88982909
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.88026960
18SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.83602722
19IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.82643850
20CREB1_15753290_ChIP-ChIP_HEK293T_Human2.82377044
21STAT4_19710469_ChIP-ChIP_TH1__Mouse2.82123421
22MYB_26560356_Chip-Seq_TH2_Human2.76598746
23MYC_19030024_ChIP-ChIP_MESCs_Mouse2.74914958
24RUNX_20019798_ChIP-Seq_JUKART_Human2.71099337
25E2F7_22180533_ChIP-Seq_HELA_Human2.69985295
26TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.62284383
27JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.59241039
28SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.55522956
29AR_21909140_ChIP-Seq_LNCAP_Human2.49200543
30* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.48858802
31GABP_17652178_ChIP-ChIP_JURKAT_Human2.46125411
32* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.45043721
33SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.40980349
34NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.40730756
35MAF_26560356_Chip-Seq_TH1_Human2.40209106
36* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.32508895
37ETS1_20019798_ChIP-Seq_JURKAT_Human2.30901683
38XRN2_22483619_ChIP-Seq_HELA_Human2.23643280
39SPI1_23547873_ChIP-Seq_NB4_Human2.20068042
40E2F4_17652178_ChIP-ChIP_JURKAT_Human2.18893145
41MYB_26560356_Chip-Seq_TH1_Human2.17742319
42MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.14612871
43CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.11267404
44FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.10634013
45DCP1A_22483619_ChIP-Seq_HELA_Human2.10233880
46TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.09619167
47VDR_21846776_ChIP-Seq_THP-1_Human2.09260045
48RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.06974162
49EGR1_19374776_ChIP-ChIP_THP-1_Human2.03320737
50RUNX1_22412390_ChIP-Seq_EML_Mouse2.02570806
51THAP11_20581084_ChIP-Seq_MESCs_Mouse2.01818636
52NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.00843439
53BRD4_27068464_Chip-Seq_AML-cells_Mouse1.98049831
54VDR_24763502_ChIP-Seq_THP-1_Human1.97164627
55* UTX_26944678_Chip-Seq_JUKART_Human1.96988103
56* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.96167177
57TTF2_22483619_ChIP-Seq_HELA_Human1.94772136
58* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.91171601
59MYC_22102868_ChIP-Seq_BL_Human1.86595965
60PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.84909600
61EST1_17652178_ChIP-ChIP_JURKAT_Human1.82398499
62MYCN_18555785_ChIP-Seq_MESCs_Mouse1.80422811
63NANOG_18555785_ChIP-Seq_MESCs_Mouse1.78273597
64NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.73345324
65GATA3_27048872_Chip-Seq_THYMUS_Human1.72517262
66CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.71249154
67RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.70762732
68Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.70521136
69POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.70314758
70GABP_19822575_ChIP-Seq_HepG2_Human1.66928579
71SCL_19346495_ChIP-Seq_HPC-7_Human1.66513767
72POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.65053305
73ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.64430819
74MAF_26560356_Chip-Seq_TH2_Human1.63950218
75* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.62052686
76ELK3_25401928_ChIP-Seq_HUVEC_Human1.61880056
77CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.59848357
78CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.57300179
79CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.52186042
80ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.50151559
81SPI1_23127762_ChIP-Seq_K562_Human1.49096827
82DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.48535500
83KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.46497162
84NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.45914018
85CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.45905378
86MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.45036015
87ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.44768151
88PU_27001747_Chip-Seq_BMDM_Mouse1.43073307
89KDM2B_26808549_Chip-Seq_DND41_Human1.43015064
90PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.42781828
91E2F1_21310950_ChIP-Seq_MCF-7_Human1.42226378
92ELK1_19687146_ChIP-ChIP_HELA_Human1.41918709
93KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.41757331
94MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.39778542
95KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.37357283
96* CLOCK_20551151_ChIP-Seq_293T_Human1.35944392
97PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.35767297
98FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.34580919
99EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.33749387
100TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.32662589
101E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.31495468
102PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.31250442
103KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.29617527
104OCT4_18692474_ChIP-Seq_MEFs_Mouse1.27671605
105TCF7_22412390_ChIP-Seq_EML_Mouse1.27289473
106SOX2_18692474_ChIP-Seq_MEFs_Mouse1.25978264
107TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.23690809
108SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.23191312
109P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22166229
110HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.20373849
111NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.18680701
112SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.18377059
113FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.17115769
114FOXP3_21729870_ChIP-Seq_TREG_Human1.13938375
115GATA2_22383799_ChIP-Seq_G1ME_Mouse1.13631794
116YY1_21170310_ChIP-Seq_MESCs_Mouse1.12562412
117GATA3_26560356_Chip-Seq_TH2_Human1.12201265
118KDM2B_26808549_Chip-Seq_SUP-B15_Human1.11908693
119VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.11750602
120PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11412819
121TCF3_18692474_ChIP-Seq_MEFs_Mouse1.11069529
122POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.10864262
123E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.10292457
124PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.10115688
125SOX2_18555785_ChIP-Seq_MESCs_Mouse1.09993535
126CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.09565260
127NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.09216827
128EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.08172961
129STAT3_1855785_ChIP-Seq_MESCs_Mouse1.08069677
130ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.06902669
131CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06796333
132CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06198301
133* NANOG_18692474_ChIP-Seq_MEFs_Mouse1.06105059
134HOXB4_20404135_ChIP-ChIP_EML_Mouse1.05845080
135* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.05476368
136SRY_22984422_ChIP-ChIP_TESTIS_Rat1.05336375
137* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04918436
138SOX17_20123909_ChIP-Seq_XEN_Mouse1.04012316
139SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.03837477
140STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.03825144
141YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.03602047
142* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.03449511
143SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.03427501
144SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.02569667
145PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.02235513
146HIF1A_21447827_ChIP-Seq_MCF-7_Human1.01508970
147RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01451234
148EGR1_19032775_ChIP-ChIP_M12_Human1.00244290
149CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.99831340
150PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.98761928
151LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.97767018
152GATA1_22383799_ChIP-Seq_G1ME_Mouse0.97232468
153TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.97076827
154SRF_21415370_ChIP-Seq_HL-1_Mouse0.96271660
155VDR_24787735_ChIP-Seq_THP-1_Human0.96143589
156ATF3_27146783_Chip-Seq_COLON_Human0.94802681
157TFEB_21752829_ChIP-Seq_HELA_Human0.94670267
158CTCF_18555785_ChIP-Seq_MESCs_Mouse0.94476676
159ELF1_17652178_ChIP-ChIP_JURKAT_Human0.94057555
160RARG_19884340_ChIP-ChIP_MEFs_Mouse0.93983553
161ERG_20887958_ChIP-Seq_HPC-7_Mouse0.93960292
162NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.93898712
163CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.92808083
164PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92636217
165LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.91802096
166STAT6_21828071_ChIP-Seq_BEAS2B_Human0.91741052
167SPI1_20517297_ChIP-Seq_HL60_Human0.91706563
168HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.91643620
169TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91265935
170PU.1_20513432_ChIP-Seq_Bcells_Mouse0.90815533
171FOXO3_23340844_ChIP-Seq_DLD1_Human0.87490398
172ZNF263_19887448_ChIP-Seq_K562_Human0.84975686
173GATA2_21666600_ChIP-Seq_HMVEC_Human0.84683065
174KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.84392534
175FOXM1_23109430_ChIP-Seq_U2OS_Human0.84282686
176GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.83475410
177* SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.83374602
178* SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.83374602
179RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.83034867
180TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.82683878
181* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.82322449
182VDR_23849224_ChIP-Seq_CD4+_Human0.79776047
183CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.78975204

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000579_abnormal_nail_morphology4.47822007
2MP0009379_abnormal_foot_pigmentation3.45774297
3MP0003941_abnormal_skin_development3.37457482
4MP0004957_abnormal_blastocyst_morpholog3.35193042
5MP0001835_abnormal_antigen_presentation2.94362309
6MP0006082_CNS_inflammation2.86125846
7MP0005671_abnormal_response_to2.84826285
8MP0003436_decreased_susceptibility_to2.80511367
9MP0005000_abnormal_immune_tolerance2.78952706
10MP0003763_abnormal_thymus_physiology2.78537205
11MP0008932_abnormal_embryonic_tissue2.69312253
12MP0004272_abnormal_basement_membrane2.68514449
13MP0002877_abnormal_melanocyte_morpholog2.65421223
14MP0000685_abnormal_immune_system2.61861889
15MP0003303_peritoneal_inflammation2.60382121
16MP0003724_increased_susceptibility_to2.58149185
17MP0010030_abnormal_orbit_morphology2.50080449
18MP0009785_altered_susceptibility_to2.46116601
19MP0005058_abnormal_lysosome_morphology2.45732652
20MP0003111_abnormal_nucleus_morphology2.43951819
21MP0002723_abnormal_immune_serum2.38639431
22MP0001800_abnormal_humoral_immune2.37045835
23MP0005025_abnormal_response_to2.35428303
24MP0004947_skin_inflammation2.35258216
25MP0001790_abnormal_immune_system2.34002705
26MP0005387_immune_system_phenotype2.34002705
27MP0002452_abnormal_antigen_presenting2.33563535
28MP0002419_abnormal_innate_immunity2.30605491
29MP0008438_abnormal_cutaneous_collagen2.29886258
30MP0003705_abnormal_hypodermis_morpholog2.28047397
31MP0002420_abnormal_adaptive_immunity2.27942778
32MP0002148_abnormal_hypersensitivity_rea2.27144759
33MP0001819_abnormal_immune_cell2.25941187
34MP0009333_abnormal_splenocyte_physiolog2.19621348
35MP0002166_altered_tumor_susceptibility2.18608133
36MP0010094_abnormal_chromosome_stability2.16627283
37MP0003315_abnormal_perineum_morphology2.16491519
38MP0005257_abnormal_intraocular_pressure2.14022679
39MP0000920_abnormal_myelination2.06953084
40MP0003186_abnormal_redox_activity2.05624903
41MP0002405_respiratory_system_inflammati1.93926187
42MP0002006_tumorigenesis1.93209990
43MP0001849_ear_inflammation1.91308224
44MP0004782_abnormal_surfactant_physiolog1.91088188
45MP0002398_abnormal_bone_marrow1.90351042
46MP0004858_abnormal_nervous_system1.88193356
47MP0001533_abnormal_skeleton_physiology1.84351835
48MP0001851_eye_inflammation1.80618437
49MP0000716_abnormal_immune_system1.79776702
50MP0003077_abnormal_cell_cycle1.79409369
51MP0005464_abnormal_platelet_physiology1.77522856
52MP0000762_abnormal_tongue_morphology1.75651046
53MP0003300_gastrointestinal_ulcer1.74917820
54MP0000467_abnormal_esophagus_morphology1.69466163
55MP0009053_abnormal_anal_canal1.68943707
56MP0008789_abnormal_olfactory_epithelium1.65191833
57MP0000465_gastrointestinal_hemorrhage1.63613487
58MP0003448_altered_tumor_morphology1.62955732
59MP0000537_abnormal_urethra_morphology1.60627547
60MP0010352_gastrointestinal_tract_polyps1.58857776
61MP0002933_joint_inflammation1.57344140
62MP0001188_hyperpigmentation1.56752142
63MP0002722_abnormal_immune_system1.54630345
64MP0002396_abnormal_hematopoietic_system1.53031128
65MP0000689_abnormal_spleen_morphology1.51278501
66MP0000383_abnormal_hair_follicle1.48896773
67MP0002429_abnormal_blood_cell1.45725716
68MP0000858_altered_metastatic_potential1.45326280
69MP0001845_abnormal_inflammatory_respons1.45032704
70MP0004381_abnormal_hair_follicle1.44629161
71MP0010155_abnormal_intestine_physiology1.44580361
72MP0003453_abnormal_keratinocyte_physiol1.41943962
73MP0004185_abnormal_adipocyte_glucose1.39153535
74MP0005410_abnormal_fertilization1.38931017
75MP0005499_abnormal_olfactory_system1.38853159
76MP0005394_taste/olfaction_phenotype1.38853159
77MP0008007_abnormal_cellular_replicative1.38241238
78MP0001730_embryonic_growth_arrest1.37399241
79MP0000703_abnormal_thymus_morphology1.36860707
80MP0000350_abnormal_cell_proliferation1.36824704
81MP0010678_abnormal_skin_adnexa1.33786098
82MP0009278_abnormal_bone_marrow1.33512150
83MP0003806_abnormal_nucleotide_metabolis1.33491550
84MP0001873_stomach_inflammation1.33242345
85MP0002098_abnormal_vibrissa_morphology1.32748782
86MP0004510_myositis1.30631604
87MP0008260_abnormal_autophagy1.29067602
88MP0002998_abnormal_bone_remodeling1.25144493
89MP0002796_impaired_skin_barrier1.23482970
90MP0005623_abnormal_meninges_morphology1.23206175
91MP0008058_abnormal_DNA_repair1.22636932
92MP0002234_abnormal_pharynx_morphology1.20692938
93MP0003566_abnormal_cell_adhesion1.18933610
94MP0000566_synostosis1.17759605
95MP0010307_abnormal_tumor_latency1.17442748
96MP0005397_hematopoietic_system_phenotyp1.16604730
97MP0001545_abnormal_hematopoietic_system1.16604730
98MP0000604_amyloidosis1.11771720
99MP0001881_abnormal_mammary_gland1.11293185
100MP0003950_abnormal_plasma_membrane1.11051143
101MP0005380_embryogenesis_phenotype1.10296371
102MP0001672_abnormal_embryogenesis/_devel1.10296371
103MP0003866_abnormal_defecation1.09119802
104MP0000678_abnormal_parathyroid_gland1.08638908
105MP0001216_abnormal_epidermal_layer1.08201487
106MP0003172_abnormal_lysosome_physiology1.07364104
107MP0005197_abnormal_uvea_morphology1.06218936
108MP0002697_abnormal_eye_size1.05758503
109MP0003786_premature_aging1.05220464
110MP0005023_abnormal_wound_healing1.03966430
111MP0003123_paternal_imprinting1.03768574
112MP0004264_abnormal_extraembryonic_tissu1.03645665
113MP0001542_abnormal_bone_strength1.03035219
114MP0002111_abnormal_tail_morphology1.02467062
115MP0000627_abnormal_mammary_gland1.02304116
116MP0000358_abnormal_cell_content/1.01240666
117MP0002735_abnormal_chemical_nociception1.00823622
118MP0003385_abnormal_body_wall1.00135195
119MP0001853_heart_inflammation1.00129027
120MP0002080_prenatal_lethality0.99807692
121MP0000490_abnormal_crypts_of0.98999033
122MP0004233_abnormal_muscle_weight0.98830147
123MP0004808_abnormal_hematopoietic_stem0.98346513
124MP0002254_reproductive_system_inflammat0.97767713
125MP0000343_altered_response_to0.96715638
126MP0005275_abnormal_skin_tensile0.96029803
127MP0003718_maternal_effect0.95025941
128MP0000372_irregular_coat_pigmentation0.94828842
129MP0001299_abnormal_eye_distance/0.94126552
130MP0002009_preneoplasia0.93706715
131MP0008469_abnormal_protein_level0.93021803
132MP0005501_abnormal_skin_physiology0.93014629
133MP0005390_skeleton_phenotype0.92136336
134MP0003984_embryonic_growth_retardation0.91408386
135MP0009840_abnormal_foam_cell0.90300857
136MP0001697_abnormal_embryo_size0.90267261
137MP0005310_abnormal_salivary_gland0.89796948
138MP0002085_abnormal_embryonic_tissue0.89694321
139MP0003690_abnormal_glial_cell0.88405659
140MP0006054_spinal_hemorrhage0.87860586
141MP0010771_integument_phenotype0.86708285
142MP0002088_abnormal_embryonic_growth/wei0.85440030
143MP0005174_abnormal_tail_pigmentation0.84026965
144MP0002019_abnormal_tumor_incidence0.83791189
145MP0000377_abnormal_hair_follicle0.83494693
146MP0003937_abnormal_limbs/digits/tail_de0.82336500
147MP0002084_abnormal_developmental_patter0.81229298
148MP0010368_abnormal_lymphatic_system0.80241533
149MP0002233_abnormal_nose_morphology0.79767572
150MP0003755_abnormal_palate_morphology0.79508042
151MP0001727_abnormal_embryo_implantation0.79438145
152MP0000313_abnormal_cell_death0.79428503
153MP0000647_abnormal_sebaceous_gland0.79311902
154MP0003075_altered_response_to0.79082087
155MP0003656_abnormal_erythrocyte_physiolo0.78447880
156MP0005193_abnormal_anterior_eye0.78071836
157MP0000049_abnormal_middle_ear0.77291016
158MP0003567_abnormal_fetal_cardiomyocyte0.76816058
159MP0003045_fibrosis0.75781546
160MP0009384_cardiac_valve_regurgitation0.73997452
161MP0003191_abnormal_cellular_cholesterol0.72751895
162MP0009697_abnormal_copulation0.72445010
163MP0003329_amyloid_beta_deposits0.72201093
164MP0003795_abnormal_bone_structure0.70459239
165MP0003890_abnormal_embryonic-extraembry0.70409779
166MP0001191_abnormal_skin_condition0.70188913
167MP0004147_increased_porphyrin_level0.69308793
168MP0001243_abnormal_dermal_layer0.68924285
169MP0010234_abnormal_vibrissa_follicle0.68379772
170MP0003091_abnormal_cell_migration0.66958583
171MP0002060_abnormal_skin_morphology0.65780696
172MP0009931_abnormal_skin_appearance0.65724952
173MP0005166_decreased_susceptibility_to0.65708620
174MP0003693_abnormal_embryo_hatching0.64102281
175MP0001958_emphysema0.63733597

Predicted human phenotypes

RankGene SetZ-score
1Fragile nails (HP:0001808)5.16228435
2Eczematoid dermatitis (HP:0000976)5.01796799
3Chronic otitis media (HP:0000389)4.84547279
4Onycholysis (HP:0001806)4.79799039
5Recurrent abscess formation (HP:0002722)4.63931153
6Elevated erythrocyte sedimentation rate (HP:0003565)4.54531336
7T lymphocytopenia (HP:0005403)4.31450009
8Abnormality of T cell number (HP:0011839)4.13915370
9Atrophic scars (HP:0001075)3.97095918
10Recurrent bacterial skin infections (HP:0005406)3.96089450
11Stomatitis (HP:0010280)3.95914446
12Segmental peripheral demyelination/remyelination (HP:0003481)3.86131021
13Selective tooth agenesis (HP:0001592)3.85139850
14Abnormality of nail color (HP:0100643)3.83354034
15Abnormality of macrophages (HP:0004311)3.74954189
16Milia (HP:0001056)3.67760964
17Plantar hyperkeratosis (HP:0007556)3.65594583
18Nasal polyposis (HP:0100582)3.59754465
19Recurrent bronchitis (HP:0002837)3.50069034
20Reticulocytopenia (HP:0001896)3.47972231
21Increased cerebral lipofuscin (HP:0011813)3.35663941
22Sparse eyelashes (HP:0000653)3.35205433
23Cellulitis (HP:0100658)3.29445510
24Peripheral hypomyelination (HP:0007182)3.28791172
25Abnormality of the nasal mucosa (HP:0000433)3.27467724
26Recurrent fungal infections (HP:0002841)3.24810391
27Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.21141592
28Increased neuronal autofluorescent lipopigment (HP:0002074)3.14639727
29Premature rupture of membranes (HP:0001788)3.13851957
30Recurrent viral infections (HP:0004429)3.12750118
31Pustule (HP:0200039)3.08692843
32Chronic obstructive pulmonary disease (HP:0006510)3.05772015
33Obstructive lung disease (HP:0006536)3.05772015
34Increased IgE level (HP:0003212)3.04735654
35Aplasia/Hypoplasia of the sacrum (HP:0008517)3.04456816
36Vacuolated lymphocytes (HP:0001922)2.95851249
37Myositis (HP:0100614)2.89221839
38Abnormality of T cells (HP:0002843)2.88577126
39Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.87170633
40Recurrent skin infections (HP:0001581)2.85687400
41Axonal loss (HP:0003447)2.85022820
42Nail dystrophy (HP:0008404)2.83952315
43Increased serum pyruvate (HP:0003542)2.81877018
44Interstitial pulmonary disease (HP:0006530)2.81129052
45Pili torti (HP:0003777)2.79570637
46Autoimmune thrombocytopenia (HP:0001973)2.77801627
47Severe combined immunodeficiency (HP:0004430)2.74573232
48Mediastinal lymphadenopathy (HP:0100721)2.74386266
49Dysostosis multiplex (HP:0000943)2.67402554
50Abnormality of glycolysis (HP:0004366)2.66176068
51Combined immunodeficiency (HP:0005387)2.64329568
52Disinhibition (HP:0000734)2.63303639
53Abnormal mitochondria in muscle tissue (HP:0008316)2.60819958
54Alopecia of scalp (HP:0002293)2.58863823
55Osteolytic defects of the hand bones (HP:0009699)2.58647634
56Osteolytic defects of the phalanges of the hand (HP:0009771)2.58647634
57Oral leukoplakia (HP:0002745)2.57096784
58Amniotic constriction ring (HP:0009775)2.54674545
59Abnormality of placental membranes (HP:0011409)2.54674545
60Leukocytosis (HP:0001974)2.50740988
61Palmoplantar hyperkeratosis (HP:0000972)2.47847432
62Acute necrotizing encephalopathy (HP:0006965)2.46740033
63Hypergammaglobulinemia (HP:0010702)2.46091520
64Abnormality of liposaccharide metabolism (HP:0010968)2.45900358
65Abnormality of glycosphingolipid metabolism (HP:0004343)2.45900358
66Abnormality of glycolipid metabolism (HP:0010969)2.45900358
67Trismus (HP:0000211)2.44642845
68Macrocytic anemia (HP:0001972)2.43762227
69Eosinophilia (HP:0001880)2.43347419
70Ridged nail (HP:0001807)2.39848279
71Pterygium (HP:0001059)2.39457409
72Palmar hyperkeratosis (HP:0010765)2.38910711
73Vertebral compression fractures (HP:0002953)2.37194822
74Deviation of the thumb (HP:0009603)2.36360579
75Congenital ichthyosiform erythroderma (HP:0007431)2.35131936
76Autoimmune hemolytic anemia (HP:0001890)2.34971667
77Abnormality of eosinophils (HP:0001879)2.34818242
78Proximal placement of thumb (HP:0009623)2.33068214
79Hepatosplenomegaly (HP:0001433)2.33035681
80IgM deficiency (HP:0002850)2.32252544
81Rough bone trabeculation (HP:0100670)2.31751657
82Loss of speech (HP:0002371)2.30496302
83Thick nail (HP:0001805)2.30441555
84Spontaneous hematomas (HP:0007420)2.28899829
85Thyroiditis (HP:0100646)2.28351562
86Meningitis (HP:0001287)2.27326640
87Parakeratosis (HP:0001036)2.27267537
88Microvesicular hepatic steatosis (HP:0001414)2.26781819
89Aplasia cutis congenita (HP:0001057)2.23951402
90Vasculitis (HP:0002633)2.23634170
91Skin ulcer (HP:0200042)2.23593138
92Acute encephalopathy (HP:0006846)2.23004753
93Osteomyelitis (HP:0002754)2.22731737
94Recurrent gram-negative bacterial infections (HP:0005420)2.20410494
95Right ventricular cardiomyopathy (HP:0011663)2.20096388
96Sepsis (HP:0100806)2.19753891
97Recurrent cutaneous fungal infections (HP:0011370)2.18803155
98Chronic mucocutaneous candidiasis (HP:0002728)2.18803155
99Woolly hair (HP:0002224)2.17520401
100Decreased activity of mitochondrial respiratory chain (HP:0008972)2.17079478
101Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.17079478
102Erythema (HP:0010783)2.16326293
103Breast hypoplasia (HP:0003187)2.14098261
104Ulnar claw (HP:0001178)2.13179758
105Multiple enchondromatosis (HP:0005701)2.12709322
106Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.12209057
107Neurofibrillary tangles (HP:0002185)2.11838846
108Onion bulb formation (HP:0003383)2.11314450
109Verrucae (HP:0200043)2.10992156
110Papilloma (HP:0012740)2.10992156
111Upper motor neuron abnormality (HP:0002127)2.10474968
112Bronchitis (HP:0012387)2.08887152
113Abnormal trabecular bone morphology (HP:0100671)2.08519002
114Cerebral edema (HP:0002181)2.07299216
115Achilles tendon contracture (HP:0001771)2.06826419
116Petechiae (HP:0000967)2.05350020
117Death in infancy (HP:0001522)2.05124198
118IgG deficiency (HP:0004315)2.04788221
119Cortical dysplasia (HP:0002539)2.03896064
120Hematochezia (HP:0002573)2.02776840
121Squamous cell carcinoma (HP:0002860)2.02690960
122Abnormalities of placenta or umbilical cord (HP:0001194)2.02251580
123Abnormal blistering of the skin (HP:0008066)2.01813820
124Natal tooth (HP:0000695)2.01414786
125Fragile skin (HP:0001030)1.99519371
126Chronic sinusitis (HP:0011109)1.99332442
127Gingivitis (HP:0000230)1.98942080
128Lymphopenia (HP:0001888)1.97941254
129Thoracolumbar scoliosis (HP:0002944)1.96614529
130Abnormal hair laboratory examination (HP:0003328)1.95378747
131Degeneration of anterior horn cells (HP:0002398)1.95079152
132Abnormality of the anterior horn cell (HP:0006802)1.95079152
133Granulocytopenia (HP:0001913)1.94509356
134Agammaglobulinemia (HP:0004432)1.93667459
135Abnormality of T cell physiology (HP:0011840)1.92203596
136Orchitis (HP:0100796)1.92164240
137Abnormality of cells of the lymphoid lineage (HP:0012140)1.90546037
138Pallor (HP:0000980)1.90267991
139Insomnia (HP:0100785)1.89977026
140Short middle phalanx of the 5th finger (HP:0004220)1.89287034
141Basal ganglia calcification (HP:0002135)1.88483999
142Supranuclear gaze palsy (HP:0000605)1.88229976
143Ankyloglossia (HP:0010296)1.85694683
144Increased hepatocellular lipid droplets (HP:0006565)1.84957962
145Elbow flexion contracture (HP:0002987)1.84216072
146Slow saccadic eye movements (HP:0000514)1.83697935
147Tetraparesis (HP:0002273)1.83477369
148Fasciculations (HP:0002380)1.82854979
149Urinary glycosaminoglycan excretion (HP:0003541)1.82669963
150Mucopolysacchariduria (HP:0008155)1.82669963
151Lipid accumulation in hepatocytes (HP:0006561)1.81540073
152Abnormality of the umbilical cord (HP:0010881)1.81237253
153Progressive neurologic deterioration (HP:0002344)1.80014675
154Renal duplication (HP:0000075)1.79825271
155Abnormality of cells of the erythroid lineage (HP:0012130)1.78758285
156Abnormality of the distal phalanges of the toes (HP:0010182)1.78269776
157Spastic diplegia (HP:0001264)1.77460521
158Panhypogammaglobulinemia (HP:0003139)1.77401582
159Long palpebral fissure (HP:0000637)1.76585183
160Follicular hyperkeratosis (HP:0007502)1.75916687
161Chromosomal breakage induced by crosslinking agents (HP:0003221)1.75395158
162Abnormality of the lumbar spine (HP:0100712)1.75065064
163Episodic fever (HP:0001954)1.74927070
164Pseudobulbar signs (HP:0002200)1.74765880
165Retrobulbar optic neuritis (HP:0100654)1.73911984
166Optic neuritis (HP:0100653)1.73911984
167Termporal pattern (HP:0011008)1.73847215
168Insidious onset (HP:0003587)1.73847215
169Peripheral demyelination (HP:0011096)1.73759711
170Microretrognathia (HP:0000308)1.73753453
171Nausea (HP:0002018)1.72288085
172Hypotrichosis (HP:0001006)1.70408185
173Inflammation of the large intestine (HP:0002037)1.70109918
174Recurrent pneumonia (HP:0006532)1.70088954
175Overriding aorta (HP:0002623)1.69398137
176Increased CSF lactate (HP:0002490)1.68907096
177Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.68188696
178Increased CSF protein (HP:0002922)1.67878201
179Ankle contracture (HP:0006466)1.65227550
180Increased intramyocellular lipid droplets (HP:0012240)1.64108196
181Chromsome breakage (HP:0040012)1.62161027
182Absent eyelashes (HP:0000561)1.61860713
183Hypokinesia (HP:0002375)1.61718593
184Abnormality of oral frenula (HP:0000190)1.61346163
185Ragged-red muscle fibers (HP:0003200)1.60539715
186Mitochondrial inheritance (HP:0001427)1.60242446
187Abnormality of reticulocytes (HP:0004312)1.59485674
188Blepharitis (HP:0000498)1.59117789
189Upper limb muscle weakness (HP:0003484)1.58239404
190Horseshoe kidney (HP:0000085)1.58044158
191Erythroderma (HP:0001019)1.57719140
192Dysphonia (HP:0001618)1.56773055
193Progressive muscle weakness (HP:0003323)1.55716833
194Back pain (HP:0003418)1.53394040

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K13.80757202
2TESK22.97696022
3BLK2.93651693
4STK102.91912061
5EPHB12.89923965
6ARAF2.70195583
7NEK12.58649474
8TXK2.54207259
9CDC72.50455799
10TYK22.42813103
11TTK2.38319658
12SRPK12.34729774
13MST42.33978983
14JAK32.25383525
15ITK2.18138375
16ZAP702.16058966
17NME22.13577939
18EIF2AK12.09439382
19EPHB22.07027192
20MAPKAPK52.04773984
21TBK12.03643248
22IRAK32.00927726
23TESK11.99169827
24LATS21.98173307
25TIE11.97194507
26PBK1.91196414
27PAK41.86030157
28RIPK41.85860167
29TSSK61.83932098
30BRAF1.82461969
31LIMK11.81948629
32IKBKE1.80649843
33MARK31.77355982
34PLK41.75030721
35WEE11.74790956
36LRRK21.74703943
37EPHA21.72226619
38VRK21.69447377
39KDR1.67492122
40NLK1.66967267
41STK161.65615528
42STK391.61054952
43PIM21.59258738
44FGFR41.57154579
45ABL21.51384917
46LCK1.50027731
47JAK11.43192813
48MAP3K141.42156750
49KIT1.38756228
50NTRK11.33133800
51RPS6KA41.31471635
52TEC1.29134455
53CLK11.27859196
54MAP3K101.27716455
55TRPM71.25233342
56PLK11.20341386
57HCK1.17342934
58BTK1.15472731
59PTK21.15468264
60SMG11.14214670
61ERBB41.13756884
62MKNK11.11791750
63SYK1.11204116
64CSK1.10992929
65IRAK41.10599499
66DYRK31.10430280
67DDR21.08290763
68TGFBR21.07539546
69EPHA31.01871985
70CHEK21.00450722
71BCKDK1.00419481
72PLK30.99938551
73FGFR20.99906234
74EEF2K0.99479421
75TGFBR10.99089968
76AURKA0.97325029
77FGFR30.96054495
78IRAK10.93476148
79IKBKB0.93175070
80AURKB0.91468101
81BRSK10.85776005
82KSR20.85007931
83MAP3K120.83722855
84ERN10.83603569
85PRKG20.83500825
86GRK60.79399414
87CDK70.79120236
88JAK20.78804712
89PIM10.77156585
90TAOK20.76563371
91CDK140.75443184
92PNCK0.73258793
93SCYL20.73003479
94MAP3K30.71879761
95PDK20.71791740
96MAPKAPK30.68656379
97CSF1R0.68626289
98LYN0.68232925
99CDK11A0.68055555
100CHEK10.67249001
101MST1R0.67159775
102BUB10.66902373
103BCR0.66344373
104MAP3K130.65446395
105DMPK0.65370863
106MAP3K110.64536932
107TRIB30.63628949
108STK240.63138499
109CDK150.63067993
110PRKCQ0.62989647
111CDK180.62068561
112TAF10.61878552
113HIPK20.60758653
114MAP3K80.60494452
115PDGFRA0.60080277
116RAF10.59776645
117MAPKAPK20.59330782
118CSNK2A10.58325594
119ATR0.57073195
120CDK190.56905661
121STK40.55993837
122CDK80.54251966
123PRKCH0.54004151
124FES0.53813110
125PDK10.53418053
126CSNK1G10.52657787
127MAP2K20.51754735
128DYRK20.51552164
129TRIM280.51277868
130CSNK2A20.50946851
131RPS6KA50.50356701
132CSNK1G20.49987769
133IRAK20.49138504
134MAP2K30.48463445
135FLT30.47961642
136MAP3K20.47956550
137PLK20.47829221
138MAP3K90.47214615
139GRK70.46769532
140PAK20.46132809
141MAP3K10.45296545
142CSNK1A1L0.43844944
143PDGFRB0.43106114
144PRKD10.42248896
145ALK0.41801049
146CSNK1G30.41391485
147MATK0.41259960
148NEK20.41148830
149MET0.40698190
150ABL10.39629386
151EIF2AK20.39025460
152CSNK1E0.37627633
153PTK60.36386145
154MAPK40.35885305
155FYN0.35385580
156EGFR0.34835034
157OXSR10.34420658
158RET0.33718831
159MOS0.33001158
160CDK60.32669290
161PRKCI0.32614831
162PAK10.31918333
163EIF2AK30.31734401
164RIPK10.31676404
165CDK90.31122852
166BMX0.30642123
167BRSK20.30566559
168PRKCD0.29571518

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053402.85727463
2Mismatch repair_Homo sapiens_hsa034302.70219116
3Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.67316426
4Leishmaniasis_Homo sapiens_hsa051402.34851216
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.29365453
6Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.18085557
7Spliceosome_Homo sapiens_hsa030402.17037431
8Oxidative phosphorylation_Homo sapiens_hsa001902.16665517
9Steroid biosynthesis_Homo sapiens_hsa001002.07280472
10Osteoclast differentiation_Homo sapiens_hsa043802.03700037
11Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.94973275
12Graft-versus-host disease_Homo sapiens_hsa053321.94247605
13Measles_Homo sapiens_hsa051621.93438139
14Parkinsons disease_Homo sapiens_hsa050121.93234539
15T cell receptor signaling pathway_Homo sapiens_hsa046601.89139640
16Antigen processing and presentation_Homo sapiens_hsa046121.82356715
17NF-kappa B signaling pathway_Homo sapiens_hsa040641.82343262
18RNA transport_Homo sapiens_hsa030131.81544727
19Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.81074679
20Base excision repair_Homo sapiens_hsa034101.81065340
21Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.76943959
22Lysosome_Homo sapiens_hsa041421.72939410
23Pyrimidine metabolism_Homo sapiens_hsa002401.72500230
24Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.71645796
25Hematopoietic cell lineage_Homo sapiens_hsa046401.71487674
26B cell receptor signaling pathway_Homo sapiens_hsa046621.70386689
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.68783893
28Fatty acid elongation_Homo sapiens_hsa000621.68459092
29Biosynthesis of amino acids_Homo sapiens_hsa012301.65278384
30Shigellosis_Homo sapiens_hsa051311.63222238
31RNA polymerase_Homo sapiens_hsa030201.62859328
32Folate biosynthesis_Homo sapiens_hsa007901.62844133
33Nucleotide excision repair_Homo sapiens_hsa034201.57753216
34Toll-like receptor signaling pathway_Homo sapiens_hsa046201.57203858
35Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.54559265
36Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.52669889
37NOD-like receptor signaling pathway_Homo sapiens_hsa046211.51570273
38Pertussis_Homo sapiens_hsa051331.48845437
39Bladder cancer_Homo sapiens_hsa052191.48020582
40Toxoplasmosis_Homo sapiens_hsa051451.47105826
41Pyruvate metabolism_Homo sapiens_hsa006201.46840949
42Salmonella infection_Homo sapiens_hsa051321.46102435
43One carbon pool by folate_Homo sapiens_hsa006701.45193596
44Allograft rejection_Homo sapiens_hsa053301.45163312
45Leukocyte transendothelial migration_Homo sapiens_hsa046701.44470901
46Sulfur metabolism_Homo sapiens_hsa009201.44000048
47Huntingtons disease_Homo sapiens_hsa050161.42487006
48Malaria_Homo sapiens_hsa051441.41848949
49Legionellosis_Homo sapiens_hsa051341.41840442
50Galactose metabolism_Homo sapiens_hsa000521.41788490
51Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.41544259
52Intestinal immune network for IgA production_Homo sapiens_hsa046721.40837778
53Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.40804627
54Tuberculosis_Homo sapiens_hsa051521.38284638
55Carbon metabolism_Homo sapiens_hsa012001.38021410
56Sulfur relay system_Homo sapiens_hsa041221.37655585
57Viral myocarditis_Homo sapiens_hsa054161.37429192
58Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.36955469
59Cysteine and methionine metabolism_Homo sapiens_hsa002701.35186577
60Ribosome_Homo sapiens_hsa030101.33975364
61Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.32259472
62Alzheimers disease_Homo sapiens_hsa050101.32023463
632-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.31734234
64Homologous recombination_Homo sapiens_hsa034401.29928684
65Jak-STAT signaling pathway_Homo sapiens_hsa046301.28130917
66Glycosaminoglycan degradation_Homo sapiens_hsa005311.28020275
67Chemokine signaling pathway_Homo sapiens_hsa040621.27025718
68N-Glycan biosynthesis_Homo sapiens_hsa005101.26693439
69RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.24178438
70Apoptosis_Homo sapiens_hsa042101.23800568
71Phagosome_Homo sapiens_hsa041451.23154686
72Rheumatoid arthritis_Homo sapiens_hsa053231.18605674
73Sphingolipid signaling pathway_Homo sapiens_hsa040711.18057296
74Herpes simplex infection_Homo sapiens_hsa051681.17064223
75Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13987831
76Hepatitis B_Homo sapiens_hsa051611.12624660
77Pancreatic cancer_Homo sapiens_hsa052121.10855456
78Influenza A_Homo sapiens_hsa051641.10796065
79TNF signaling pathway_Homo sapiens_hsa046681.10703071
80Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.10050642
81Platelet activation_Homo sapiens_hsa046111.09173839
82Glutathione metabolism_Homo sapiens_hsa004801.08767153
83VEGF signaling pathway_Homo sapiens_hsa043701.07882639
84AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.06905595
85Vibrio cholerae infection_Homo sapiens_hsa051101.05884094
86Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.05647922
87Asthma_Homo sapiens_hsa053101.04633913
88Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.03874004
89Endocytosis_Homo sapiens_hsa041441.03724377
90ECM-receptor interaction_Homo sapiens_hsa045121.02055913
91Staphylococcus aureus infection_Homo sapiens_hsa051501.01758736
92Sphingolipid metabolism_Homo sapiens_hsa006001.00526604
93Pentose phosphate pathway_Homo sapiens_hsa000301.00358133
94Autoimmune thyroid disease_Homo sapiens_hsa053201.00232998
95Acute myeloid leukemia_Homo sapiens_hsa052211.00219614
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.95955877
97Other glycan degradation_Homo sapiens_hsa005110.95752555
98DNA replication_Homo sapiens_hsa030300.94091269
99Chronic myeloid leukemia_Homo sapiens_hsa052200.91309386
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88124383
101Non-homologous end-joining_Homo sapiens_hsa034500.85650548
102Renal cell carcinoma_Homo sapiens_hsa052110.85443380
103Cyanoamino acid metabolism_Homo sapiens_hsa004600.85107758
104Fanconi anemia pathway_Homo sapiens_hsa034600.85008633
105p53 signaling pathway_Homo sapiens_hsa041150.83698852
106Hepatitis C_Homo sapiens_hsa051600.83686233
107Fructose and mannose metabolism_Homo sapiens_hsa000510.82086613
108Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.81161168
109Epstein-Barr virus infection_Homo sapiens_hsa051690.80404235
110Prion diseases_Homo sapiens_hsa050200.80350615
111mRNA surveillance pathway_Homo sapiens_hsa030150.79939749
112Viral carcinogenesis_Homo sapiens_hsa052030.78439397
113RNA degradation_Homo sapiens_hsa030180.78350578
114SNARE interactions in vesicular transport_Homo sapiens_hsa041300.77193555
115Ether lipid metabolism_Homo sapiens_hsa005650.76698042
116Purine metabolism_Homo sapiens_hsa002300.76270860
117Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.75206339
118Small cell lung cancer_Homo sapiens_hsa052220.72538895
119Central carbon metabolism in cancer_Homo sapiens_hsa052300.71557805
120Regulation of actin cytoskeleton_Homo sapiens_hsa048100.71150368
121Amoebiasis_Homo sapiens_hsa051460.70803928
122HTLV-I infection_Homo sapiens_hsa051660.69344629
123Neurotrophin signaling pathway_Homo sapiens_hsa047220.67432806
124Colorectal cancer_Homo sapiens_hsa052100.66870630
125Arginine and proline metabolism_Homo sapiens_hsa003300.66312427
126Thyroid cancer_Homo sapiens_hsa052160.66284984
127Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65478397
128Basal transcription factors_Homo sapiens_hsa030220.61791349
129Metabolic pathways_Homo sapiens_hsa011000.61273123
130Proteasome_Homo sapiens_hsa030500.60995963
131Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.60447198
132Dorso-ventral axis formation_Homo sapiens_hsa043200.58286521
133Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.57786205
134Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.56746563
135Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.54533711
136Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.53457835
137Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52145652
138Phospholipase D signaling pathway_Homo sapiens_hsa040720.52075928
139Hippo signaling pathway_Homo sapiens_hsa043900.50972757
140Prostate cancer_Homo sapiens_hsa052150.48764574
141Protein export_Homo sapiens_hsa030600.48418128
142Proteoglycans in cancer_Homo sapiens_hsa052050.48289769
143Pathways in cancer_Homo sapiens_hsa052000.46699257
144Transcriptional misregulation in cancer_Homo sapiens_hsa052020.46058210
145Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45766543
146Renin-angiotensin system_Homo sapiens_hsa046140.45704963
147Rap1 signaling pathway_Homo sapiens_hsa040150.45644051
148Vitamin B6 metabolism_Homo sapiens_hsa007500.45173978
149Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.45063695
150* Mineral absorption_Homo sapiens_hsa049780.44884711
151Non-small cell lung cancer_Homo sapiens_hsa052230.44363051
152African trypanosomiasis_Homo sapiens_hsa051430.43694161
153Adherens junction_Homo sapiens_hsa045200.43160316
154HIF-1 signaling pathway_Homo sapiens_hsa040660.43026760
155Cell cycle_Homo sapiens_hsa041100.43002229
156Selenocompound metabolism_Homo sapiens_hsa004500.42802403
157Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.42427957
158Basal cell carcinoma_Homo sapiens_hsa052170.42390916
159Type I diabetes mellitus_Homo sapiens_hsa049400.41507132
160Fatty acid metabolism_Homo sapiens_hsa012120.41498086
161Prolactin signaling pathway_Homo sapiens_hsa049170.40521332
162Vitamin digestion and absorption_Homo sapiens_hsa049770.39422594
163Inositol phosphate metabolism_Homo sapiens_hsa005620.38921487
164* Protein digestion and absorption_Homo sapiens_hsa049740.38863673
165Oocyte meiosis_Homo sapiens_hsa041140.38183084
166Focal adhesion_Homo sapiens_hsa045100.37861693
167Phosphatidylinositol signaling system_Homo sapiens_hsa040700.37831893
168MicroRNAs in cancer_Homo sapiens_hsa052060.35455696
169TGF-beta signaling pathway_Homo sapiens_hsa043500.33621445
170Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.30952169
171Fat digestion and absorption_Homo sapiens_hsa049750.27562346
172Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26246809
173Melanoma_Homo sapiens_hsa052180.23888346

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