UPF3A

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 protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by symbiont of host cellular process (GO:0044068)9.67460720
2neutrophil activation involved in immune response (GO:0002283)8.26272305
3phosphatidylethanolamine acyl-chain remodeling (GO:0036152)7.60663821
4negative regulation of viral entry into host cell (GO:0046597)7.17414394
5cilium or flagellum-dependent cell motility (GO:0001539)7.11689335
6phosphatidylcholine acyl-chain remodeling (GO:0036151)6.54428941
7negative regulation of viral release from host cell (GO:1902187)6.43945168
8axonemal dynein complex assembly (GO:0070286)6.19019285
9phosphatidylserine metabolic process (GO:0006658)5.91362503
10fusion of sperm to egg plasma membrane (GO:0007342)5.85152716
11regulation of translational elongation (GO:0006448)5.80547270
12sperm motility (GO:0030317)5.70293975
13epithelial cilium movement (GO:0003351)5.57403793
14calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)5.55490829
15modulation by virus of host morphology or physiology (GO:0019048)5.51668806
16sperm-egg recognition (GO:0035036)5.47747709
17motile cilium assembly (GO:0044458)5.45016257
18acrosome reaction (GO:0007340)5.33486186
19regulation of viral entry into host cell (GO:0046596)5.30977583
20multicellular organism reproduction (GO:0032504)5.29251373
21microtubule depolymerization (GO:0007019)5.24306698
22vesicle targeting (GO:0006903)5.23206459
23acrosome assembly (GO:0001675)5.09334289
24binding of sperm to zona pellucida (GO:0007339)5.02640780
25epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.93336776
26regulation of meiosis I (GO:0060631)4.90929008
27cell wall macromolecule catabolic process (GO:0016998)4.87971186
28cell wall macromolecule metabolic process (GO:0044036)4.87971186
29cell-cell recognition (GO:0009988)4.83181080
30regulation of cilium movement (GO:0003352)4.63773434
31piRNA metabolic process (GO:0034587)4.62237324
32cilium movement (GO:0003341)4.61719059
33alditol phosphate metabolic process (GO:0052646)4.52342575
34spermatid development (GO:0007286)4.38907762
35macrophage activation involved in immune response (GO:0002281)4.37055728
36skin morphogenesis (GO:0043589)4.31635326
37male meiosis (GO:0007140)4.31385439
38amyloid precursor protein catabolic process (GO:0042987)4.30184708
39negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)4.29824302
40basic amino acid transport (GO:0015802)4.26848496
41reproduction (GO:0000003)4.21599995
42ribosomal small subunit biogenesis (GO:0042274)4.17716919
43plasma membrane fusion (GO:0045026)4.17356781
44regulation of viral release from host cell (GO:1902186)4.13769942
45beta-amyloid metabolic process (GO:0050435)4.03433074
46cerebral cortex neuron differentiation (GO:0021895)3.93245536
47synaptonemal complex assembly (GO:0007130)3.87670758
48synaptonemal complex organization (GO:0070193)3.84476655
49seminiferous tubule development (GO:0072520)3.67039737
50single fertilization (GO:0007338)3.66336601
51negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)3.62341338
52neutrophil activation (GO:0042119)3.60832055
53DNA methylation involved in gamete generation (GO:0043046)3.58561614
54brain morphogenesis (GO:0048854)3.54692255
55dorsal/ventral neural tube patterning (GO:0021904)3.51452207
56autophagic vacuole fusion (GO:0000046)3.49295694
57chromosome organization involved in meiosis (GO:0070192)3.49265627
58ventricular system development (GO:0021591)3.35236191
59antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.33023586
60positive regulation of protein homodimerization activity (GO:0090073)3.32818151
61mitochondrion degradation (GO:0000422)3.30388279
62positive regulation of meiosis (GO:0045836)3.29018161
63regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)3.27602829
64male meiosis I (GO:0007141)3.27457725
65pyrimidine nucleobase catabolic process (GO:0006208)3.23196084
66modification by symbiont of host morphology or physiology (GO:0044003)3.22796676
67single strand break repair (GO:0000012)3.22721785
68centriole assembly (GO:0098534)3.21936124
69Arp2/3 complex-mediated actin nucleation (GO:0034314)3.21675132
70ribosomal large subunit biogenesis (GO:0042273)3.17293109
71histone H2B ubiquitination (GO:0033523)3.16607128
72positive regulation of receptor recycling (GO:0001921)3.16021827
73regulation of sarcomere organization (GO:0060297)3.15263404
74meiotic nuclear division (GO:0007126)3.13141951
75cellular response to zinc ion (GO:0071294)3.12817253
76cellular response to pH (GO:0071467)3.12482040
77granulocyte activation (GO:0036230)3.09920560
78pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.09914139
79synapsis (GO:0007129)3.08854921
80fertilization (GO:0009566)3.08378278
81positive regulation of meiotic cell cycle (GO:0051446)3.06898672
82viral transcription (GO:0019083)3.05941680
83ATP synthesis coupled proton transport (GO:0015986)3.05622475
84energy coupled proton transport, down electrochemical gradient (GO:0015985)3.05622475
85ribosomal small subunit assembly (GO:0000028)3.03412671
86spermatogenesis (GO:0007283)3.03156491
87male gamete generation (GO:0048232)3.02619148
88maturation of SSU-rRNA (GO:0030490)3.01733784
89regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:23.01032548
90negative regulation of receptor activity (GO:2000272)3.00450350
91activated T cell proliferation (GO:0050798)2.99286059
92tight junction assembly (GO:0070830)2.93650303
93S-adenosylmethionine metabolic process (GO:0046500)2.91424456
94meiotic cell cycle (GO:0051321)2.91395318
95translational termination (GO:0006415)2.89351254
96base-excision repair, AP site formation (GO:0006285)2.89234293
97termination of G-protein coupled receptor signaling pathway (GO:0038032)2.89172228
98histone H3-K9 methylation (GO:0051567)2.88175811
99DNA deamination (GO:0045006)2.88027630
100actin nucleation (GO:0045010)2.83490656
101CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.82536030
102sperm capacitation (GO:0048240)2.81689468
103gamete generation (GO:0007276)2.81172315
104regulation of spindle checkpoint (GO:0090231)2.79876909
105pyrimidine nucleotide catabolic process (GO:0006244)2.76832753
106mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.76245411
107germ cell development (GO:0007281)2.75834203
108cilium morphogenesis (GO:0060271)2.74972499
109regulation of synaptic transmission, glutamatergic (GO:0051966)2.74190781
110GTP biosynthetic process (GO:0006183)2.74162252
111cell differentiation in hindbrain (GO:0021533)2.72695227
112protein K6-linked ubiquitination (GO:0085020)2.70261750
113centriole replication (GO:0007099)2.70088782
114response to acidic pH (GO:0010447)2.69222015
115cellular ketone body metabolic process (GO:0046950)2.69206702
116amino acid salvage (GO:0043102)2.68803268
117L-methionine salvage (GO:0071267)2.68803268
118L-methionine biosynthetic process (GO:0071265)2.68803268
119regulation of histone H3-K9 methylation (GO:0051570)2.68799893
120microtubule polymerization or depolymerization (GO:0031109)2.68685560
121meiosis I (GO:0007127)2.67720641
122ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.67542137
123mitotic sister chromatid cohesion (GO:0007064)2.66679058
124protein neddylation (GO:0045116)2.66322721
125regulation of nuclear cell cycle DNA replication (GO:0033262)2.66080396
126ribonucleoprotein complex biogenesis (GO:0022613)2.65440324
127dentate gyrus development (GO:0021542)2.64494099
128spermatid nucleus differentiation (GO:0007289)2.64044000
129cerebellar granule cell differentiation (GO:0021707)2.63319341
130organelle membrane fusion (GO:0090174)2.62355698
131cellular process involved in reproduction in multicellular organism (GO:0022412)2.62113078
132regulation of regulatory T cell differentiation (GO:0045589)2.61543839
133left/right pattern formation (GO:0060972)2.59437714
134smoothened signaling pathway (GO:0007224)2.58665234
135cell recognition (GO:0008037)2.57557565
136DNA packaging (GO:0006323)2.57396358
137positive regulation of tolerance induction (GO:0002645)2.57255806
138kinetochore organization (GO:0051383)2.56593973
139nucleobase catabolic process (GO:0046113)2.56528753
140DNA topological change (GO:0006265)2.55254637
141amyloid precursor protein metabolic process (GO:0042982)2.55098042
142somite development (GO:0061053)2.55084284
143SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.53853906
144DNA replication checkpoint (GO:0000076)2.53628569
145L-glutamate transport (GO:0015813)2.53034918
146response to pH (GO:0009268)2.51885492
147protein K63-linked ubiquitination (GO:0070534)2.51798836
148DNA catabolic process, exonucleolytic (GO:0000738)2.50989375
149cellular defense response (GO:0006968)2.50516575
150translational elongation (GO:0006414)2.49952490
151transcription from RNA polymerase III promoter (GO:0006383)2.49160692
152natural killer cell mediated immunity (GO:0002228)2.49065987
153natural killer cell mediated cytotoxicity (GO:0042267)2.49065987
154phosphatidylcholine metabolic process (GO:0046470)2.47547024
155UTP biosynthetic process (GO:0006228)2.47447044
156T cell activation involved in immune response (GO:0002286)2.47271330
157histone exchange (GO:0043486)2.46242666
158cotranslational protein targeting to membrane (GO:0006613)2.45649203
159cellular protein complex disassembly (GO:0043624)2.45197726
160protein targeting to ER (GO:0045047)2.45109433
161regulation of centriole replication (GO:0046599)2.44562186
162kinetochore assembly (GO:0051382)2.43252832
163protein localization to chromosome, centromeric region (GO:0071459)2.42175048
164protein polyglutamylation (GO:0018095)2.41965941
165* nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.38994001
166interferon-gamma secretion (GO:0072643)2.38437304
167histone H3-K9 modification (GO:0061647)2.37241046
168protein complex disassembly (GO:0043241)2.36635839
169rRNA metabolic process (GO:0016072)2.36321385
170rRNA processing (GO:0006364)2.36052040
171DNA damage response, signal transduction resulting in transcription (GO:0042772)2.35212547
172viral life cycle (GO:0019058)2.34620077
173chromosome condensation (GO:0030261)2.34458563
174histone H2A acetylation (GO:0043968)2.34410970
175intraciliary transport (GO:0042073)2.34245065
176negative regulation of DNA-dependent DNA replication (GO:2000104)2.33805605
177termination of RNA polymerase II transcription (GO:0006369)2.32516612
178prenylation (GO:0097354)2.32145877
179protein prenylation (GO:0018342)2.32145877
180DNA alkylation (GO:0006305)2.31909314
181DNA methylation (GO:0006306)2.31909314
182establishment of protein localization to endoplasmic reticulum (GO:0072599)2.31795508
183meiotic cell cycle process (GO:1903046)2.29950699
184positive regulation of protein sumoylation (GO:0033235)2.29223100
185mitotic sister chromatid segregation (GO:0000070)2.28093923
186poly(A)+ mRNA export from nucleus (GO:0016973)13.9204792
187modulation by virus of host process (GO:0019054)12.2273457
188phosphatidylinositol acyl-chain remodeling (GO:0036149)10.4891247
189regulation of translational fidelity (GO:0006450)10.0299446
190phosphatidylserine acyl-chain remodeling (GO:0036150)10.0090127

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse6.89856916
2E2F7_22180533_ChIP-Seq_HELA_Human4.03973251
3CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.41697167
4EZH2_22144423_ChIP-Seq_EOC_Human3.10669462
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.08240872
6FOXM1_23109430_ChIP-Seq_U2OS_Human2.82275083
7ZNF274_21170338_ChIP-Seq_K562_Hela2.71072299
8CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.70197733
9GBX2_23144817_ChIP-Seq_PC3_Human2.63305432
10SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.62449356
11IGF1R_20145208_ChIP-Seq_DFB_Human2.57004944
12E2F4_17652178_ChIP-ChIP_JURKAT_Human2.47356119
13FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.47313669
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.27309592
15HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.25658941
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.17233163
17CTBP1_25329375_ChIP-Seq_LNCAP_Human2.15794697
18TP63_19390658_ChIP-ChIP_HaCaT_Human2.09499267
19CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.07640668
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.05514601
21TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.04373339
22EZH2_27304074_Chip-Seq_ESCs_Mouse2.03121450
23JARID2_20064375_ChIP-Seq_MESCs_Mouse2.02191240
24PCGF2_27294783_Chip-Seq_ESCs_Mouse2.02116159
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.95495811
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.87625134
27RBPJ_22232070_ChIP-Seq_NCS_Mouse1.84736103
28AR_21572438_ChIP-Seq_LNCaP_Human1.82982606
29REST_21632747_ChIP-Seq_MESCs_Mouse1.82487029
30VDR_22108803_ChIP-Seq_LS180_Human1.80768316
31EZH2_27294783_Chip-Seq_ESCs_Mouse1.80683092
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.76486035
33JARID2_20075857_ChIP-Seq_MESCs_Mouse1.74388024
34EED_16625203_ChIP-ChIP_MESCs_Mouse1.73022567
35CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.72699161
36MYC_19079543_ChIP-ChIP_MESCs_Mouse1.69869842
37EZH2_18974828_ChIP-Seq_MESCs_Mouse1.68531384
38RNF2_18974828_ChIP-Seq_MESCs_Mouse1.68531384
39PCGF2_27294783_Chip-Seq_NPCs_Mouse1.66198833
40SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.66155621
41SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.59756279
42SUZ12_27294783_Chip-Seq_ESCs_Mouse1.59614457
43AR_25329375_ChIP-Seq_VCAP_Human1.57602034
44SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.57140949
45JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.56102544
46CTBP2_25329375_ChIP-Seq_LNCAP_Human1.54586033
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.54135714
48MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.53473084
49ERA_21632823_ChIP-Seq_H3396_Human1.53133648
50SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.53090821
51NFE2_27457419_Chip-Seq_LIVER_Mouse1.52285059
52RNF2_27304074_Chip-Seq_NSC_Mouse1.52099189
53SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.52067111
54EST1_17652178_ChIP-ChIP_JURKAT_Human1.51059727
55KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.50921230
56GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.50785610
57EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.50666947
58STAT6_21828071_ChIP-Seq_BEAS2B_Human1.47908522
59KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.46024214
60KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.46024214
61KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.46024214
62MYC_18358816_ChIP-ChIP_MESCs_Mouse1.45849483
63SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.45487747
64BMI1_23680149_ChIP-Seq_NPCS_Mouse1.44320860
65IKZF1_21737484_ChIP-ChIP_HCT116_Human1.43612151
66BCAT_22108803_ChIP-Seq_LS180_Human1.43064498
67GATA1_26923725_Chip-Seq_HPCs_Mouse1.42278296
68SUZ12_27294783_Chip-Seq_NPCs_Mouse1.41864770
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40595342
70KDM2B_26808549_Chip-Seq_REH_Human1.39660903
71MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.38744666
72IRF1_19129219_ChIP-ChIP_H3396_Human1.37132243
73HOXB7_26014856_ChIP-Seq_BT474_Human1.37007843
74DROSHA_22980978_ChIP-Seq_HELA_Human1.36334761
75CDX2_22108803_ChIP-Seq_LS180_Human1.35383608
76* TTF2_22483619_ChIP-Seq_HELA_Human1.35203344
77EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.33867724
78MYC_19030024_ChIP-ChIP_MESCs_Mouse1.31668389
79POU3F2_20337985_ChIP-ChIP_501MEL_Human1.30716665
80* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.30439231
81P300_19829295_ChIP-Seq_ESCs_Human1.29452261
82CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.29135376
83MTF2_20144788_ChIP-Seq_MESCs_Mouse1.27941798
84ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.27802659
85RNF2_27304074_Chip-Seq_ESCs_Mouse1.26421336
86SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.24988376
87TCF4_22108803_ChIP-Seq_LS180_Human1.22225419
88YY1_21170310_ChIP-Seq_MESCs_Mouse1.22133431
89RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21898788
90TP53_22573176_ChIP-Seq_HFKS_Human1.21576494
91GABP_17652178_ChIP-ChIP_JURKAT_Human1.21488508
92CBP_20019798_ChIP-Seq_JUKART_Human1.20620844
93IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.20620844
94ETS1_20019798_ChIP-Seq_JURKAT_Human1.20325581
95PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.19500766
96MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.19380153
97P53_21459846_ChIP-Seq_SAOS-2_Human1.18735100
98RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18312226
99NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.18006027
100EWS_26573619_Chip-Seq_HEK293_Human1.17022694
101TCF4_23295773_ChIP-Seq_U87_Human1.16928820
102PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.16063726
103VDR_23849224_ChIP-Seq_CD4+_Human1.16016765
104REST_18959480_ChIP-ChIP_MESCs_Mouse1.15793344
105CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.12839242
106SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.12821224
107PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.12398249
108HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.11858213
109SMAD3_21741376_ChIP-Seq_EPCs_Human1.11687172
110EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.11082789
111MYC_19829295_ChIP-Seq_ESCs_Human1.09414418
112GATA3_21878914_ChIP-Seq_MCF-7_Human1.08982826
113NOTCH1_21737748_ChIP-Seq_TLL_Human1.08928365
114BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.08861321
115TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07903073
116SOX2_18555785_ChIP-Seq_MESCs_Mouse1.07523589
117OCT4_18555785_Chip-Seq_ESCs_Mouse1.07506458
118XRN2_22483619_ChIP-Seq_HELA_Human1.06950707
119FOXP3_21729870_ChIP-Seq_TREG_Human1.06723244
120P300_18555785_Chip-Seq_ESCs_Mouse1.06295214
121ELF1_17652178_ChIP-ChIP_JURKAT_Human1.05019079
122SMAD3_21741376_ChIP-Seq_ESCs_Human1.04963574
123GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04288582
124EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.04040834
125EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03956386
126HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.03887927
127KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.03759065
128AUTS2_25519132_ChIP-Seq_293T-REX_Human1.03202042
129SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.02752290
130ZFP57_27257070_Chip-Seq_ESCs_Mouse1.02587994
131NANOG_18555785_Chip-Seq_ESCs_Mouse1.02254905
132FOXH1_21741376_ChIP-Seq_EPCs_Human1.02185592
133NMYC_18555785_Chip-Seq_ESCs_Mouse1.01992591
134SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.01526774
135TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01343128
136POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01343128
137SUZ12_18555785_Chip-Seq_ESCs_Mouse1.00644082
138P53_22387025_ChIP-Seq_ESCs_Mouse1.00324866
139ZFX_18555785_Chip-Seq_ESCs_Mouse0.99263130
140POU5F1_16153702_ChIP-ChIP_HESCs_Human0.97880485
141YY1_22570637_ChIP-Seq_MALME-3M_Human0.97781175
142RING1B_27294783_Chip-Seq_ESCs_Mouse0.97050697
143TP53_20018659_ChIP-ChIP_R1E_Mouse0.96900804
144DCP1A_22483619_ChIP-Seq_HELA_Human0.96817989
145KLF4_18555785_Chip-Seq_ESCs_Mouse0.96788002
146PRDM14_20953172_ChIP-Seq_ESCs_Human0.96340727
147ESRRB_18555785_Chip-Seq_ESCs_Mouse0.95743491
148TOP2B_26459242_ChIP-Seq_MCF-7_Human0.94340365
149E2F1_18555785_Chip-Seq_ESCs_Mouse0.94012598
150ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.93771720
151OCT1_27270436_Chip-Seq_PROSTATE_Human0.92823330
152LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92753052
153STAT1_20625510_ChIP-Seq_HELA_Human0.92660174
154CMYC_18555785_Chip-Seq_ESCs_Mouse0.92351424
155EZH2_27294783_Chip-Seq_NPCs_Mouse0.91301654
156KLF4_19829295_ChIP-Seq_ESCs_Human0.90518910
157FUS_26573619_Chip-Seq_HEK293_Human0.90175585
158E2F1_21310950_ChIP-Seq_MCF-7_Human0.89898298
159STAT3_18555785_Chip-Seq_ESCs_Mouse0.89013814
160RUNX1_27457419_Chip-Seq_LIVER_Mouse0.88743925
161RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.87215726
162RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.87114837
163STAT1_17558387_ChIP-Seq_HELA_Human0.84821726
164ELK1_19687146_ChIP-ChIP_HELA_Human0.84638724
165PU1_27457419_Chip-Seq_LIVER_Mouse0.83892891
166MYC_18940864_ChIP-ChIP_HL60_Human0.83676832
167POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.82622621
168CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.80170624
169CTCF_18555785_Chip-Seq_ESCs_Mouse0.79725897
170SOX2_18555785_Chip-Seq_ESCs_Mouse0.79704717
171WDR5_24793694_ChIP-Seq_LNCAP_Human0.79419323
172TAL1_26923725_Chip-Seq_HPCs_Mouse0.78839924
173STAT3_18555785_ChIP-Seq_MESCs_Mouse0.78832369
174RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.78548207
175KAP1_22055183_ChIP-Seq_ESCs_Mouse0.78540498
176SMAD1_18555785_Chip-Seq_ESCs_Mouse0.78472687
177LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.78015709

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.16068222
2MP0006054_spinal_hemorrhage6.01157448
3MP0004145_abnormal_muscle_electrophysio3.30885555
4MP0002138_abnormal_hepatobiliary_system3.07863113
5MP0006292_abnormal_olfactory_placode3.02688371
6MP0008877_abnormal_DNA_methylation2.86328381
7MP0008058_abnormal_DNA_repair2.77829434
8MP0001727_abnormal_embryo_implantation2.70130403
9MP0008057_abnormal_DNA_replication2.66152958
10MP0003698_abnormal_male_reproductive2.63821802
11MP0002089_abnormal_postnatal_growth/wei2.63050046
12MP0003111_abnormal_nucleus_morphology2.59265799
13MP0001486_abnormal_startle_reflex2.52941226
14MP0001929_abnormal_gametogenesis2.51996581
15MP0003693_abnormal_embryo_hatching2.46755761
16MP0003329_amyloid_beta_deposits2.40546917
17MP0003136_yellow_coat_color2.37524840
18MP0010094_abnormal_chromosome_stability2.31601523
19MP0002210_abnormal_sex_determination2.27398630
20MP0000566_synostosis2.21915332
21MP0009379_abnormal_foot_pigmentation2.06053385
22MP0005646_abnormal_pituitary_gland1.99248941
23MP0000778_abnormal_nervous_system1.95621578
24MP0005423_abnormal_somatic_nervous1.91788745
25MP0002102_abnormal_ear_morphology1.89059089
26MP0008007_abnormal_cellular_replicative1.86466030
27MP0001145_abnormal_male_reproductive1.77968259
28MP0003635_abnormal_synaptic_transmissio1.76028338
29MP0002653_abnormal_ependyma_morphology1.74105781
30MP0003880_abnormal_central_pattern1.73329628
31MP0002277_abnormal_respiratory_mucosa1.69547624
32MP0008932_abnormal_embryonic_tissue1.69417793
33MP0003077_abnormal_cell_cycle1.67191780
34MP0002132_abnormal_respiratory_system1.67038384
35MP0001915_intracranial_hemorrhage1.66718865
36MP0004885_abnormal_endolymph1.61179861
37MP0000049_abnormal_middle_ear1.60757698
38MP0004858_abnormal_nervous_system1.57849014
39MP0008789_abnormal_olfactory_epithelium1.57336960
40MP0000604_amyloidosis1.55519423
41MP0003941_abnormal_skin_development1.55321505
42MP0000653_abnormal_sex_gland1.53624087
43MP0004957_abnormal_blastocyst_morpholog1.51718062
44MP0001188_hyperpigmentation1.50480215
45MP0002249_abnormal_larynx_morphology1.47243349
46MP0005257_abnormal_intraocular_pressure1.46936339
47MP0003122_maternal_imprinting1.46862147
48MP0003786_premature_aging1.46342101
49MP0002184_abnormal_innervation1.45352362
50MP0010030_abnormal_orbit_morphology1.44382699
51MP0003195_calcinosis1.42586103
52MP0005360_urolithiasis1.42197677
53MP0010386_abnormal_urinary_bladder1.41333651
54MP0000955_abnormal_spinal_cord1.39996072
55MP0000613_abnormal_salivary_gland1.38229484
56MP0000750_abnormal_muscle_regeneration1.37652988
57MP0001293_anophthalmia1.37504489
58MP0001485_abnormal_pinna_reflex1.35338028
59MP0002161_abnormal_fertility/fecundity1.33876084
60MP0003011_delayed_dark_adaptation1.32380345
61MP0002638_abnormal_pupillary_reflex1.30559678
62MP0005394_taste/olfaction_phenotype1.28365314
63MP0005499_abnormal_olfactory_system1.28365314
64MP0001984_abnormal_olfaction1.27668221
65MP0009745_abnormal_behavioral_response1.26207227
66MP0001299_abnormal_eye_distance/1.26098394
67MP0003567_abnormal_fetal_cardiomyocyte1.25702005
68MP0002063_abnormal_learning/memory/cond1.21106536
69MP0003938_abnormal_ear_development1.19378856
70MP0000647_abnormal_sebaceous_gland1.17947065
71MP0002272_abnormal_nervous_system1.17306656
72MP0002160_abnormal_reproductive_system1.16328403
73MP0004381_abnormal_hair_follicle1.15712530
74MP0000467_abnormal_esophagus_morphology1.15579780
75MP0009250_abnormal_appendicular_skeleto1.15050520
76MP0000678_abnormal_parathyroid_gland1.14474495
77MP0006276_abnormal_autonomic_nervous1.13344804
78MP0002064_seizures1.11112464
79MP0000490_abnormal_crypts_of1.10991815
80MP0003121_genomic_imprinting1.10596699
81MP0003632_abnormal_nervous_system1.10363867
82MP0002837_dystrophic_cardiac_calcinosis1.09945490
83MP0001346_abnormal_lacrimal_gland1.07695774
84MP0005409_darkened_coat_color1.06621144
85MP0004133_heterotaxia1.05837395
86MP0003879_abnormal_hair_cell1.05614924
87MP0002752_abnormal_somatic_nervous1.05164980
88MP0005174_abnormal_tail_pigmentation1.03503011
89MP0000432_abnormal_head_morphology1.02996105
90MP0002822_catalepsy1.00987826
91MP0003755_abnormal_palate_morphology1.00392277
92MP0002928_abnormal_bile_duct0.99565327
93MP0000920_abnormal_myelination0.98929116
94MP0005623_abnormal_meninges_morphology0.97886921
95MP0008995_early_reproductive_senescence0.96898337
96MP0002882_abnormal_neuron_morphology0.96495199
97MP0002733_abnormal_thermal_nociception0.96141921
98MP0002396_abnormal_hematopoietic_system0.96024861
99MP0005171_absent_coat_pigmentation0.96017637
100MP0001986_abnormal_taste_sensitivity0.95712695
101MP0000762_abnormal_tongue_morphology0.95407477
102MP0003937_abnormal_limbs/digits/tail_de0.95238737
103MP0003385_abnormal_body_wall0.94362738
104MP0005670_abnormal_white_adipose0.93543249
105MP0001348_abnormal_lacrimal_gland0.92859984
106MP0001440_abnormal_grooming_behavior0.92842422
107MP0002116_abnormal_craniofacial_bone0.91815868
108MP0002735_abnormal_chemical_nociception0.91544711
109MP0001502_abnormal_circadian_rhythm0.91031597
110MP0004859_abnormal_synaptic_plasticity0.90573632
111MP0002734_abnormal_mechanical_nocicepti0.89993621
112MP0002938_white_spotting0.89650955
113MP0001968_abnormal_touch/_nociception0.89217656
114MP0003283_abnormal_digestive_organ0.89060812
115MP0005595_abnormal_vascular_smooth0.88589431
116MP0003878_abnormal_ear_physiology0.87356741
117MP0005377_hearing/vestibular/ear_phenot0.87356741
118MP0002229_neurodegeneration0.86565352
119MP0005195_abnormal_posterior_eye0.86449220
120MP0004742_abnormal_vestibular_system0.86219429
121MP0002557_abnormal_social/conspecific_i0.85650709
122MP0001970_abnormal_pain_threshold0.85449192
123MP0002572_abnormal_emotion/affect_behav0.85194699
124MP0003787_abnormal_imprinting0.84231591
125MP0003137_abnormal_impulse_conducting0.83794454
126MP0002736_abnormal_nociception_after0.83240653
127MP0005501_abnormal_skin_physiology0.83097203
128MP0002254_reproductive_system_inflammat0.82847099
129MP0003633_abnormal_nervous_system0.82385297
130MP0000015_abnormal_ear_pigmentation0.81915881
131MP0005248_abnormal_Harderian_gland0.81607231
132MP0002233_abnormal_nose_morphology0.81431648
133MP0005389_reproductive_system_phenotype0.81048969
134MP0002085_abnormal_embryonic_tissue0.78624006
135MP0005379_endocrine/exocrine_gland_phen0.78489092
136MP0005645_abnormal_hypothalamus_physiol0.78405953
137MP0005084_abnormal_gallbladder_morpholo0.78060184
138MP0004142_abnormal_muscle_tone0.77299717
139MP0003763_abnormal_thymus_physiology0.77203930
140MP0002098_abnormal_vibrissa_morphology0.76888860
141MP0005391_vision/eye_phenotype0.76879752
142MP0005075_abnormal_melanosome_morpholog0.76822442
143MP0005551_abnormal_eye_electrophysiolog0.75718033
144MP0003436_decreased_susceptibility_to0.75117189
145MP0000026_abnormal_inner_ear0.73749043
146MP0009053_abnormal_anal_canal0.73709347
147MP0001286_abnormal_eye_development0.73132773
148MP0005220_abnormal_exocrine_pancreas0.73077300
149MP0009046_muscle_twitch0.72660122
150MP0003861_abnormal_nervous_system0.71795292
151MP0002693_abnormal_pancreas_physiology0.71780616
152MP0003890_abnormal_embryonic-extraembry0.71146518
153MP0002282_abnormal_trachea_morphology0.70942732
154MP0002177_abnormal_outer_ear0.70668218
155MP0005253_abnormal_eye_physiology0.70224802
156MP0000703_abnormal_thymus_morphology0.70046615
157MP0003942_abnormal_urinary_system0.69457529
158MP0002152_abnormal_brain_morphology0.69296569
159MP0002163_abnormal_gland_morphology0.69154889
160MP0006072_abnormal_retinal_apoptosis0.68257586
161MP0002095_abnormal_skin_pigmentation0.67979745
162MP0002796_impaired_skin_barrier0.67515444
163MP0002234_abnormal_pharynx_morphology0.67158625
164MP0001119_abnormal_female_reproductive0.66529833
165MP0000313_abnormal_cell_death0.66079181
166MP0009278_abnormal_bone_marrow0.65131075
167MP0000631_abnormal_neuroendocrine_gland0.65044681
168MP0001919_abnormal_reproductive_system0.64649611
169MP0005503_abnormal_tendon_morphology0.63462037
170MP0004134_abnormal_chest_morphology0.63320281
171MP0003935_abnormal_craniofacial_develop0.62897704
172MP0000350_abnormal_cell_proliferation0.62845295
173MP0002932_abnormal_joint_morphology0.62178960

Predicted human phenotypes

RankGene SetZ-score
1Disinhibition (HP:0000734)9.27850103
2Respiratory insufficiency due to defective ciliary clearance (HP:0200073)7.97205160
3Axonal loss (HP:0003447)7.29646333
4Dynein arm defect of respiratory motile cilia (HP:0012255)7.10254228
5Absent/shortened dynein arms (HP:0200106)7.10254228
6Progressive external ophthalmoplegia (HP:0000590)6.82236332
7Inappropriate behavior (HP:0000719)6.64757298
8Upper motor neuron abnormality (HP:0002127)6.38608218
9Personality changes (HP:0000751)5.61764836
10Mask-like facies (HP:0000298)5.58034460
11Abnormal respiratory epithelium morphology (HP:0012253)5.40745296
12Abnormal respiratory motile cilium morphology (HP:0005938)5.40745296
13Abnormal respiratory motile cilium physiology (HP:0012261)5.24586596
14Neck muscle weakness (HP:0000467)5.16802605
15Neurofibrillary tangles (HP:0002185)4.73125458
16Amyotrophic lateral sclerosis (HP:0007354)4.64738919
17Abnormal ciliary motility (HP:0012262)4.42383035
18Polyphagia (HP:0002591)4.32899141
19Rhinitis (HP:0012384)4.03515167
20Chromosomal breakage induced by crosslinking agents (HP:0003221)4.02693501
21Chronic bronchitis (HP:0004469)3.82294374
22Chromsome breakage (HP:0040012)3.71391855
23Abnormal neuron morphology (HP:0012757)3.54802472
24Abnormality of the motor neurons (HP:0002450)3.54802472
25Cortical dysplasia (HP:0002539)3.48959692
26Nephronophthisis (HP:0000090)3.25867266
27Reticulocytopenia (HP:0001896)3.21842956
28Cerebral inclusion bodies (HP:0100314)3.17137844
29Bone cyst (HP:0012062)3.04394250
30Abnormal eating behavior (HP:0100738)3.03735669
31Diminished motivation (HP:0000745)2.87453596
32Pathologic fracture (HP:0002756)2.85013131
33Meckel diverticulum (HP:0002245)2.81758309
34Basal ganglia calcification (HP:0002135)2.81398841
35External ophthalmoplegia (HP:0000544)2.79207471
36Abnormality of the ileum (HP:0001549)2.70488419
37Nasal polyposis (HP:0100582)2.68889767
38Tubulointerstitial nephritis (HP:0001970)2.63358276
39Bronchiectasis (HP:0002110)2.59268635
40Aplasia/Hypoplasia of the sacrum (HP:0008517)2.59261732
41Spastic tetraparesis (HP:0001285)2.56751164
42Multiple enchondromatosis (HP:0005701)2.56123369
43Rib fusion (HP:0000902)2.52863754
44Aplasia/Hypoplasia of the uvula (HP:0010293)2.52826607
45Abnormality of the renal medulla (HP:0100957)2.51596754
46Abnormality of the preputium (HP:0100587)2.47428798
47Upper limb muscle weakness (HP:0003484)2.44518345
48Ectopic kidney (HP:0000086)2.38388166
49Abnormality of midbrain morphology (HP:0002418)2.36739569
50Molar tooth sign on MRI (HP:0002419)2.36739569
51Duplicated collecting system (HP:0000081)2.34820281
52Syncope (HP:0001279)2.34343531
53Infertility (HP:0000789)2.34134218
54Absent thumb (HP:0009777)2.25856038
55Bronchitis (HP:0012387)2.24951945
56Abnormality of the renal collecting system (HP:0004742)2.22169332
57Oligodactyly (HP:0012165)2.22072799
58Duplication of thumb phalanx (HP:0009942)2.20184852
59Triphalangeal thumb (HP:0001199)2.17937188
60Recurrent sinusitis (HP:0011108)2.17555411
61Myokymia (HP:0002411)2.15649706
62Choanal stenosis (HP:0000452)2.14704256
63Recurrent bacterial skin infections (HP:0005406)2.14649040
64Abnormality of the middle phalanges of the toes (HP:0010183)2.11781764
65Apathy (HP:0000741)2.10904246
66Oculomotor apraxia (HP:0000657)2.10239240
67Hypoplasia of the uterus (HP:0000013)2.10128246
68Facial cleft (HP:0002006)2.08555732
69Memory impairment (HP:0002354)2.08048252
70Abnormal spermatogenesis (HP:0008669)2.07797354
71Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.07081920
72Encephalitis (HP:0002383)2.06644405
73Septo-optic dysplasia (HP:0100842)2.06418602
74Impulsivity (HP:0100710)2.05897241
75Abnormality of the nasal mucosa (HP:0000433)2.05692855
76Trismus (HP:0000211)2.04356180
77Aqueductal stenosis (HP:0002410)2.02540397
78Absent radius (HP:0003974)2.01385323
79Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)13.8262347
80Agnosia (HP:0010524)13.2654652
81Median cleft lip (HP:0000161)1.98261380
82Chronic hepatic failure (HP:0100626)1.97996881
83Atrophy/Degeneration involving motor neurons (HP:0007373)1.96951517
84Abnormality of DNA repair (HP:0003254)1.96809599
85Pallor (HP:0000980)1.94065848
86Lower limb hyperreflexia (HP:0002395)1.92742129
87Postaxial foot polydactyly (HP:0001830)1.92487792
88Abnormality of chromosome stability (HP:0003220)1.92376925
89Supernumerary spleens (HP:0009799)1.92153324
90Abnormality of cells of the erythroid lineage (HP:0012130)1.91255891
91Short chin (HP:0000331)1.90071129
9211 pairs of ribs (HP:0000878)1.89613455
93Prostate neoplasm (HP:0100787)1.87555595
94Abnormality of the proximal phalanges of the hand (HP:0009834)1.87247372
95Hypoplasia of the radius (HP:0002984)1.86680187
96Congenital, generalized hypertrichosis (HP:0004540)1.84414081
97Renal dysplasia (HP:0000110)1.84409257
98Abnormality of molar morphology (HP:0011070)1.84022992
99Abnormality of molar (HP:0011077)1.84022992
100Absent forearm bone (HP:0003953)1.83904128
101Aplasia involving forearm bones (HP:0009822)1.83904128
102Abnormality of the phalanges of the hallux (HP:0010057)1.83542338
103Patellar aplasia (HP:0006443)1.83455285
104Duodenal stenosis (HP:0100867)1.83451535
105Small intestinal stenosis (HP:0012848)1.83451535
106Broad hallux (HP:0010055)1.83233152
107Clubbing of toes (HP:0100760)1.82857392
108Preaxial hand polydactyly (HP:0001177)1.81890119
109Morphological abnormality of the middle ear (HP:0008609)1.81741692
110Cleft eyelid (HP:0000625)1.81608146
111Gliosis (HP:0002171)1.80540417
112Optic nerve coloboma (HP:0000588)1.79443939
113Increased IgM level (HP:0003496)1.78688258
114Pendular nystagmus (HP:0012043)1.78360323
115Congenital sensorineural hearing impairment (HP:0008527)1.78235640
116Dyschromatopsia (HP:0007641)1.76394099
117Hypoplasia of the capital femoral epiphysis (HP:0003090)1.76344380
118Nephroblastoma (Wilms tumor) (HP:0002667)1.76279205
119Aplasia/Hypoplasia of the patella (HP:0006498)1.75200407
120Absent rod-and cone-mediated responses on ERG (HP:0007688)1.73982344
121Abnormality of the dental root (HP:0006486)1.73194552
122Taurodontia (HP:0000679)1.73194552
123Abnormality of permanent molar morphology (HP:0011071)1.73194552
124Pancreatic cysts (HP:0001737)1.72468720
125Sloping forehead (HP:0000340)1.71259234
126Bell-shaped thorax (HP:0001591)1.71151471
127True hermaphroditism (HP:0010459)1.70863314
128Abnormal number of erythroid precursors (HP:0012131)1.68844336
129Agitation (HP:0000713)1.68192139
130Medial flaring of the eyebrow (HP:0010747)1.67201691
131Embryonal renal neoplasm (HP:0011794)1.66547441
132Annular pancreas (HP:0001734)1.66400081
133Spastic paraparesis (HP:0002313)1.66322412
134Anencephaly (HP:0002323)1.64380266
135Pancreatic fibrosis (HP:0100732)1.64095779
136Aganglionic megacolon (HP:0002251)1.63347047
137Abnormality of the parietal bone (HP:0002696)1.62536992
138Abdominal situs inversus (HP:0003363)1.62188868
139Abnormality of abdominal situs (HP:0011620)1.62188868
140Attenuation of retinal blood vessels (HP:0007843)1.62089571
141Atelectasis (HP:0100750)1.61009069
142Abnormality of the carotid arteries (HP:0005344)1.60921050
143Coronal craniosynostosis (HP:0004440)1.59959630
144Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.59442078
145Pachygyria (HP:0001302)1.59251095
146Recurrent otitis media (HP:0000403)1.58748428
147Abnormality of the dental pulp (HP:0006479)1.58442122
148Abnormality of the phalanges of the 5th finger (HP:0004213)1.57620059
149Abnormality of the nasal septum (HP:0000419)1.57247575
150Abnormality of the septum pellucidum (HP:0007375)1.56390482
151Congenital stationary night blindness (HP:0007642)1.56159544
152Optic nerve hypoplasia (HP:0000609)1.55908717
153Decreased central vision (HP:0007663)1.55796485
154Broad toe (HP:0001837)1.54602112
155Supernumerary ribs (HP:0005815)1.53122126
156Asplenia (HP:0001746)1.52444912
157Aplasia/Hypoplasia of the spleen (HP:0010451)1.52399558
158Cystic liver disease (HP:0006706)1.51265114
159Short thumb (HP:0009778)1.50956734
160Congenital hepatic fibrosis (HP:0002612)1.50084600
161Aplasia/hypoplasia of the uterus (HP:0008684)1.49868882
162Generalized aminoaciduria (HP:0002909)1.49863088
163Gait imbalance (HP:0002141)1.49552517
164Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.49458783
165Gastrointestinal infarctions (HP:0005244)1.48173689
166Progressive cerebellar ataxia (HP:0002073)1.45396727
167Rectovaginal fistula (HP:0000143)1.44911863
168Rectal fistula (HP:0100590)1.44911863
169Decreased circulating renin level (HP:0003351)1.44493362
170Sclerocornea (HP:0000647)1.43254986
171Occipital encephalocele (HP:0002085)1.43217051
172Turricephaly (HP:0000262)1.43191048
173Short hallux (HP:0010109)1.42702131
174Fetal akinesia sequence (HP:0001989)1.40051892
175Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.37393475
176Male pseudohermaphroditism (HP:0000037)1.36139983
177Symphalangism affecting the phalanges of the hand (HP:0009773)1.34851458
178Renal cortical cysts (HP:0000803)1.33538398
179Stereotypic behavior (HP:0000733)1.32986442
180Aplasia/Hypoplasia of the hallux (HP:0008362)1.29689455
181Limb dystonia (HP:0002451)1.28192979

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK15.95392579
2SCYL25.71738703
3BCKDK3.82181957
4MAP3K43.77896445
5SRPK13.42191718
6EEF2K3.20741371
7CDC72.79651802
8TESK12.74932333
9PDK42.62278720
10PDK32.62278720
11TLK12.51898712
12STK162.45028534
13MARK12.38793328
14ICK2.33259913
15PDK22.08976798
16TTK2.06228295
17NEK22.02498597
18CDK121.86706346
19BRD41.85814678
20BLK1.82869320
21STK38L1.70951246
22ZAK1.68606497
23CHEK21.65173327
24DYRK31.63730522
25FGFR11.63143745
26CDK71.62633820
27SYK1.60393758
28PLK11.58956309
29BUB11.58069734
30MKNK21.56790875
31FRK1.54495502
32PLK41.53812923
33WNK31.50125325
34MAPK121.49561548
35NME21.48594269
36TRPM71.47838812
37MKNK11.47323759
38YES11.44284110
39PRPF4B1.39991318
40ATR1.38750968
41PRKD31.33612401
42IRAK21.33035688
43PTK2B1.31057513
44EIF2AK21.29886738
45PHKG11.28675621
46PHKG21.28675621
47MAP3K61.28453787
48GRK11.27662992
49CSNK1G31.25921186
50NTRK21.25499596
51MAPK151.24602928
52CSNK1G21.21184733
53IRAK11.19395996
54AURKA1.17857582
55TNK21.15661283
56AURKB1.12965836
57WEE11.10481125
58PRKCQ1.07773729
59CSNK1A1L1.05502807
60DYRK1B1.03775404
61SIK21.03140083
62STK391.02917768
63CSNK1G11.02149231
64PRKD21.01922628
65VRK10.97903218
66TNIK0.96627546
67MAP2K70.96546634
68ADRBK20.95289127
69SGK4940.94759047
70SGK2230.94759047
71WNK40.93911614
72CHEK10.92489104
73CCNB10.91371008
74TXK0.91168337
75NLK0.90253723
76CDK80.89816375
77ATM0.89148642
78MAP3K10.86678636
79WNK10.85504199
80IRAK30.84434951
81PRKCZ0.83732769
82TAOK30.83090503
83ERBB30.82409412
84CDK150.80263400
85EPHA20.79415575
86CSNK1D0.79323296
87EPHA40.79010893
88CASK0.77771304
89PASK0.77722047
90IRAK40.77436406
91INSRR0.77186161
92CDK11A0.76075613
93MARK30.75940819
94RPS6KA50.75858143
95CLK10.75421309
96MAP2K60.74739573
97CDK30.74334924
98NTRK30.73243507
99MAP3K140.72858185
100PIM20.72796279
101CDK180.72765007
102PLK30.72268009
103CDK50.71620967
104PAK30.70715133
105PINK10.69286613
106TEC0.68111822
107DYRK20.67932092
108PRKCG0.67838681
109RPS6KB20.67629250
110MAPK130.67181351
111EPHA30.66656515
112PBK0.65872662
113MAP4K20.65434532
114SGK10.65261809
115STK30.65257806
116CDK140.65225097
117CSNK2A10.64251066
118LCK0.64069243
119PKN10.62384776
120MAPK70.62255413
121MAP2K40.62099929
122MAPKAPK30.60858795
123EPHB20.58114388
124BMPR1B0.57739771
125RPS6KA40.56977700
126MARK20.56953941
127PNCK0.56528975
128UHMK10.56415657
129NEK60.54534015
130PIM10.54230841
131CDK20.53112029
132MAPKAPK50.51080698
133DYRK1A0.50887374
134TESK20.50684729
135CSNK2A20.50581548
136SIK30.50249560
137PRKACA0.50242413
138TIE10.49227514
139BMPR20.47139285
140CDC42BPA0.47030582
141CDK10.46578844
142MOS0.41060119
143PRKCA0.40928173
144PAK10.40832876
145ACVR1B0.40546633
146NEK90.39589831
147STK100.38917524
148IKBKB0.38107160
149OBSCN0.37653797
150TYRO30.37508957
151DDR20.37071546
152STK380.36634002
153ADRBK10.36242495
154NUAK10.36113417
155MATK0.35643924
156MINK10.34610608
157PRKCD0.34075350
158PRKDC0.33240714
159DAPK20.30929075
160CSNK1A10.30759880
161IGF1R0.30545420
162CAMK10.29053242
163PRKACG0.27613580
164STK110.26869738
165FLT30.26829378
166RPS6KA30.26458556
167CAMK2A0.26262072
168MUSK0.25320053
169MAPK90.23889750

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur relay system_Homo sapiens_hsa041224.97166003
2Ribosome_Homo sapiens_hsa030103.21441599
3Fanconi anemia pathway_Homo sapiens_hsa034603.12862242
4Homologous recombination_Homo sapiens_hsa034402.87102834
5DNA replication_Homo sapiens_hsa030302.68070804
6Nitrogen metabolism_Homo sapiens_hsa009102.66250409
7Spliceosome_Homo sapiens_hsa030402.56395438
8Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.44479853
9Basal transcription factors_Homo sapiens_hsa030222.38825008
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.38059681
11Mismatch repair_Homo sapiens_hsa034302.22641895
12RNA polymerase_Homo sapiens_hsa030202.19151207
13Nucleotide excision repair_Homo sapiens_hsa034201.87216144
14Base excision repair_Homo sapiens_hsa034101.84705098
15* RNA transport_Homo sapiens_hsa030131.83036539
16Oxidative phosphorylation_Homo sapiens_hsa001901.73350859
17Cell cycle_Homo sapiens_hsa041101.67024263
18Non-homologous end-joining_Homo sapiens_hsa034501.62979724
19Phototransduction_Homo sapiens_hsa047441.61722912
20Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.55520860
21Pyrimidine metabolism_Homo sapiens_hsa002401.55310416
22Dorso-ventral axis formation_Homo sapiens_hsa043201.54016105
23Proteasome_Homo sapiens_hsa030501.53956672
24* mRNA surveillance pathway_Homo sapiens_hsa030151.53116974
25Glycerophospholipid metabolism_Homo sapiens_hsa005641.39868277
26Parkinsons disease_Homo sapiens_hsa050121.38567407
27RNA degradation_Homo sapiens_hsa030181.37570056
28Alzheimers disease_Homo sapiens_hsa050101.30031303
29p53 signaling pathway_Homo sapiens_hsa041151.25822723
30Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.25250194
31Purine metabolism_Homo sapiens_hsa002301.20192058
32Cardiac muscle contraction_Homo sapiens_hsa042601.19106876
33Chemical carcinogenesis_Homo sapiens_hsa052041.18549657
34Arachidonic acid metabolism_Homo sapiens_hsa005901.14700606
35Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.07497859
36Protein export_Homo sapiens_hsa030601.04895842
37Basal cell carcinoma_Homo sapiens_hsa052171.03394879
38Primary immunodeficiency_Homo sapiens_hsa053401.02589639
39Type I diabetes mellitus_Homo sapiens_hsa049401.02517889
40Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.00886400
41Herpes simplex infection_Homo sapiens_hsa051680.99561338
42Cocaine addiction_Homo sapiens_hsa050300.98523862
43Systemic lupus erythematosus_Homo sapiens_hsa053220.98126930
44Maturity onset diabetes of the young_Homo sapiens_hsa049500.96412332
45One carbon pool by folate_Homo sapiens_hsa006700.94212948
46Oocyte meiosis_Homo sapiens_hsa041140.93363937
47Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.92026600
48Huntingtons disease_Homo sapiens_hsa050160.91906446
49Hedgehog signaling pathway_Homo sapiens_hsa043400.89086358
50Linoleic acid metabolism_Homo sapiens_hsa005910.88751978
51Wnt signaling pathway_Homo sapiens_hsa043100.85409313
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.84501590
53Intestinal immune network for IgA production_Homo sapiens_hsa046720.84157778
54Viral myocarditis_Homo sapiens_hsa054160.82566291
55Propanoate metabolism_Homo sapiens_hsa006400.81914037
56Vitamin B6 metabolism_Homo sapiens_hsa007500.81322278
57Hematopoietic cell lineage_Homo sapiens_hsa046400.80856195
58Epstein-Barr virus infection_Homo sapiens_hsa051690.80832311
59Transcriptional misregulation in cancer_Homo sapiens_hsa052020.80593704
60Circadian rhythm_Homo sapiens_hsa047100.78647067
61NF-kappa B signaling pathway_Homo sapiens_hsa040640.78580153
62Leukocyte transendothelial migration_Homo sapiens_hsa046700.77598501
63Primary bile acid biosynthesis_Homo sapiens_hsa001200.77539086
64Sphingolipid metabolism_Homo sapiens_hsa006000.76784004
65Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.73901522
66alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.73194750
67Morphine addiction_Homo sapiens_hsa050320.73048143
68Insulin secretion_Homo sapiens_hsa049110.72725367
69HTLV-I infection_Homo sapiens_hsa051660.72233834
70Collecting duct acid secretion_Homo sapiens_hsa049660.70891302
71Alcoholism_Homo sapiens_hsa050340.68768189
72Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.67898594
73Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.67350437
74Measles_Homo sapiens_hsa051620.66730072
75SNARE interactions in vesicular transport_Homo sapiens_hsa041300.65810590
76Gap junction_Homo sapiens_hsa045400.65714896
77Notch signaling pathway_Homo sapiens_hsa043300.64762036
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.63348080
79Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.63328433
80GABAergic synapse_Homo sapiens_hsa047270.62792898
81Antigen processing and presentation_Homo sapiens_hsa046120.62627241
82Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.61001223
83Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.60633818
84Glutamatergic synapse_Homo sapiens_hsa047240.59766688
85Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.59115647
86Graft-versus-host disease_Homo sapiens_hsa053320.59036767
87NOD-like receptor signaling pathway_Homo sapiens_hsa046210.58570404
88Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.58503574
89Ether lipid metabolism_Homo sapiens_hsa005650.57812245
90Sulfur metabolism_Homo sapiens_hsa009200.57219276
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.56799401
92Synaptic vesicle cycle_Homo sapiens_hsa047210.56224973
93Mineral absorption_Homo sapiens_hsa049780.56179963
94MicroRNAs in cancer_Homo sapiens_hsa052060.55908443
95Autoimmune thyroid disease_Homo sapiens_hsa053200.55847959
96Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.54752723
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54729275
98Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.52865382
99beta-Alanine metabolism_Homo sapiens_hsa004100.51082466
100Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.50818712
101Allograft rejection_Homo sapiens_hsa053300.50514809
102Hippo signaling pathway_Homo sapiens_hsa043900.50397805
103Viral carcinogenesis_Homo sapiens_hsa052030.50128670
104Salmonella infection_Homo sapiens_hsa051320.49373561
105Shigellosis_Homo sapiens_hsa051310.48688177
106Rap1 signaling pathway_Homo sapiens_hsa040150.48665982
107MAPK signaling pathway_Homo sapiens_hsa040100.47899348
108Olfactory transduction_Homo sapiens_hsa047400.47278615
109Circadian entrainment_Homo sapiens_hsa047130.47239153
110RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.46888780
111Pathways in cancer_Homo sapiens_hsa052000.46878691
112Cholinergic synapse_Homo sapiens_hsa047250.46173584
113GnRH signaling pathway_Homo sapiens_hsa049120.45968955
114Oxytocin signaling pathway_Homo sapiens_hsa049210.45782049
115Tight junction_Homo sapiens_hsa045300.45544939
116Dopaminergic synapse_Homo sapiens_hsa047280.44990568
117TGF-beta signaling pathway_Homo sapiens_hsa043500.43762154
118Axon guidance_Homo sapiens_hsa043600.43294902
119Taste transduction_Homo sapiens_hsa047420.43247698
120Influenza A_Homo sapiens_hsa051640.43083403
121Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.42758177
122Small cell lung cancer_Homo sapiens_hsa052220.41846980
123T cell receptor signaling pathway_Homo sapiens_hsa046600.41339610
124Prostate cancer_Homo sapiens_hsa052150.40517695
125Cysteine and methionine metabolism_Homo sapiens_hsa002700.40220986
126Jak-STAT signaling pathway_Homo sapiens_hsa046300.40042221
127Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.39559627
128Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.39416944
129Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.39251649
130Other glycan degradation_Homo sapiens_hsa005110.39196890
131ECM-receptor interaction_Homo sapiens_hsa045120.37289530
132B cell receptor signaling pathway_Homo sapiens_hsa046620.36313808
133Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.36251772
134Calcium signaling pathway_Homo sapiens_hsa040200.34971284
135Regulation of autophagy_Homo sapiens_hsa041400.34541180
136Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.34084916
137Retinol metabolism_Homo sapiens_hsa008300.33304174
138Serotonergic synapse_Homo sapiens_hsa047260.32471502
139Butanoate metabolism_Homo sapiens_hsa006500.32068566
140Melanoma_Homo sapiens_hsa052180.31546346
141Legionellosis_Homo sapiens_hsa051340.31442431
142Amphetamine addiction_Homo sapiens_hsa050310.30903358
143PI3K-Akt signaling pathway_Homo sapiens_hsa041510.29759287
144Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.29737123
145Tryptophan metabolism_Homo sapiens_hsa003800.29589888
146N-Glycan biosynthesis_Homo sapiens_hsa005100.29239303
147Ras signaling pathway_Homo sapiens_hsa040140.29209291
148VEGF signaling pathway_Homo sapiens_hsa043700.28905286
149Long-term potentiation_Homo sapiens_hsa047200.28408623
150Steroid hormone biosynthesis_Homo sapiens_hsa001400.27517811
151Apoptosis_Homo sapiens_hsa042100.27273399
152Nicotine addiction_Homo sapiens_hsa050330.26947939
153Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.26495595
154Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26134858
155Bile secretion_Homo sapiens_hsa049760.23034998
156Protein digestion and absorption_Homo sapiens_hsa049740.22364324
157Caffeine metabolism_Homo sapiens_hsa002320.21569536
158Choline metabolism in cancer_Homo sapiens_hsa052310.21043887
159Phenylalanine metabolism_Homo sapiens_hsa003600.19295287
160Phospholipase D signaling pathway_Homo sapiens_hsa040720.18883736
161Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.18737632
162cAMP signaling pathway_Homo sapiens_hsa040240.18545565
163Vascular smooth muscle contraction_Homo sapiens_hsa042700.16307664
164Tyrosine metabolism_Homo sapiens_hsa003500.16277193
165Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.15387322

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