AGO1

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 member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1layer formation in cerebral cortex (GO:0021819)4.29406654
2pre-miRNA processing (GO:0031054)4.29092559
3DNA double-strand break processing (GO:0000729)4.28823594
4replication fork processing (GO:0031297)4.23040470
5negative regulation of DNA-dependent DNA replication (GO:2000104)4.17863116
6chromatin remodeling at centromere (GO:0031055)4.05010924
7nuclear pore complex assembly (GO:0051292)4.02589149
8* negative regulation of translation, ncRNA-mediated (GO:0040033)4.02379335
9* regulation of translation, ncRNA-mediated (GO:0045974)4.02379335
10* negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.02379335
11mitotic sister chromatid cohesion (GO:0007064)3.83509243
12establishment of nucleus localization (GO:0040023)3.80426679
13CENP-A containing nucleosome assembly (GO:0034080)3.73439374
14pyrimidine nucleobase catabolic process (GO:0006208)3.71309229
15nuclear pore organization (GO:0006999)3.68271142
16histone exchange (GO:0043486)3.63638903
17glial cell proliferation (GO:0014009)3.61409541
18negative regulation of DNA recombination (GO:0045910)3.52754802
19maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.52690079
20dendritic spine morphogenesis (GO:0060997)3.49046072
21regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.48961721
22regulation of mitotic spindle checkpoint (GO:1903504)3.48961721
23cell migration in hindbrain (GO:0021535)3.44072659
24locomotory exploration behavior (GO:0035641)3.42216313
25sister chromatid segregation (GO:0000819)3.41899230
26negative regulation of oligodendrocyte differentiation (GO:0048715)3.41589461
27neuron recognition (GO:0008038)3.41547705
28DNA replication checkpoint (GO:0000076)3.39996347
29nucleosome disassembly (GO:0006337)3.37607773
30protein-DNA complex disassembly (GO:0032986)3.37607773
31presynaptic membrane assembly (GO:0097105)3.36197682
32stress granule assembly (GO:0034063)3.35143441
33gastrulation with mouth forming second (GO:0001702)3.33079561
34DNA replication-independent nucleosome assembly (GO:0006336)3.29419840
35DNA replication-independent nucleosome organization (GO:0034724)3.29419840
36kinetochore organization (GO:0051383)3.27853056
37regulation of NFAT protein import into nucleus (GO:0051532)3.27437653
38limb bud formation (GO:0060174)3.23111956
39axonal fasciculation (GO:0007413)3.22720365
40kinetochore assembly (GO:0051382)3.22584049
41mitotic sister chromatid segregation (GO:0000070)3.21007533
42central nervous system projection neuron axonogenesis (GO:0021952)3.20826497
43spindle checkpoint (GO:0031577)3.20778208
44non-recombinational repair (GO:0000726)3.17965700
45double-strand break repair via nonhomologous end joining (GO:0006303)3.17965700
46metaphase plate congression (GO:0051310)3.17871627
47mitotic metaphase plate congression (GO:0007080)3.16098319
48cytoplasmic mRNA processing body assembly (GO:0033962)3.14473921
49protein localization to kinetochore (GO:0034501)3.11722178
50planar cell polarity pathway involved in neural tube closure (GO:0090179)3.10012965
51histone H2A acetylation (GO:0043968)3.08232629
52peptidyl-lysine dimethylation (GO:0018027)3.08141914
53mitotic spindle checkpoint (GO:0071174)3.07462481
54regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.07267210
55epithelial cell differentiation involved in prostate gland development (GO:0060742)3.05771913
56regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.05571666
57lactate metabolic process (GO:0006089)3.04715737
58somatic hypermutation of immunoglobulin genes (GO:0016446)3.04427484
59somatic diversification of immune receptors via somatic mutation (GO:0002566)3.04427484
60synaptic vesicle maturation (GO:0016188)3.02916924
61DNA ligation (GO:0006266)3.02867566
62cytoskeletal anchoring at plasma membrane (GO:0007016)3.01485482
63positive regulation of RNA splicing (GO:0033120)3.00456702
64olfactory bulb development (GO:0021772)3.00158751
65DNA topological change (GO:0006265)2.99886111
66DNA strand renaturation (GO:0000733)2.99708987
67regulation of nuclear cell cycle DNA replication (GO:0033262)2.98558357
68cerebellar Purkinje cell differentiation (GO:0021702)2.98280925
69dendrite morphogenesis (GO:0048813)2.98092214
70resolution of meiotic recombination intermediates (GO:0000712)2.97163189
71regulation of centriole replication (GO:0046599)2.95761242
72negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.94838107
73regulation of chemokine-mediated signaling pathway (GO:0070099)2.94475521
74regulation of DNA endoreduplication (GO:0032875)2.93556797
75regulation of helicase activity (GO:0051095)2.93057372
76positive regulation of gene expression, epigenetic (GO:0045815)2.92132933
77glucocorticoid receptor signaling pathway (GO:0042921)2.92024219
78presynaptic membrane organization (GO:0097090)2.91538290
79embryonic foregut morphogenesis (GO:0048617)2.91324207
80establishment of planar polarity (GO:0001736)2.90822315
81establishment of tissue polarity (GO:0007164)2.90822315
82nucleobase catabolic process (GO:0046113)2.90395777
83negative regulation of mitotic sister chromatid separation (GO:2000816)2.90358012
84negative regulation of sister chromatid segregation (GO:0033046)2.90358012
85negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.90358012
86negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.90358012
87negative regulation of mitotic sister chromatid segregation (GO:0033048)2.90358012
88DNA damage response, detection of DNA damage (GO:0042769)2.90302286
89negative regulation of chromosome segregation (GO:0051985)2.88243151
90ATP-dependent chromatin remodeling (GO:0043044)2.87353060
91mitotic nuclear envelope disassembly (GO:0007077)2.86306318
92DNA replication-dependent nucleosome assembly (GO:0006335)2.83289656
93DNA replication-dependent nucleosome organization (GO:0034723)2.83289656
94negative regulation of DNA repair (GO:0045738)2.82774035
95kidney morphogenesis (GO:0060993)2.82585376
96insulin-like growth factor receptor signaling pathway (GO:0048009)2.81258342
97cell junction maintenance (GO:0034331)2.79885620
98pore complex assembly (GO:0046931)2.78658523
99regulation of posttranscriptional gene silencing (GO:0060147)2.77191855
100regulation of gene silencing by miRNA (GO:0060964)2.77191855
101regulation of gene silencing by RNA (GO:0060966)2.77191855
102negative regulation of glial cell proliferation (GO:0060253)2.75853228
103synapsis (GO:0007129)2.73666623
104response to pheromone (GO:0019236)2.72225210
105intra-S DNA damage checkpoint (GO:0031573)2.71477767
106negative regulation of catenin import into nucleus (GO:0035414)2.71387400
107NLS-bearing protein import into nucleus (GO:0006607)2.71355034
108regulation of chromosome segregation (GO:0051983)2.70809669
109regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.70747233
110regulation of mitotic metaphase/anaphase transition (GO:0030071)2.70747233
111histone H4-K16 acetylation (GO:0043984)2.69907077
112nuclear envelope disassembly (GO:0051081)2.68262556
113membrane disassembly (GO:0030397)2.68262556
114regulation of mitotic sister chromatid separation (GO:0010965)2.67831301
115regulation of mitotic sister chromatid segregation (GO:0033047)2.67831301
116regulation of sister chromatid segregation (GO:0033045)2.67831301
117protein K6-linked ubiquitination (GO:0085020)2.66751074
118heterochromatin organization (GO:0070828)2.66564421
119mitotic G2/M transition checkpoint (GO:0044818)2.66216983
120DNA unwinding involved in DNA replication (GO:0006268)2.65847644
121DNA strand elongation involved in DNA replication (GO:0006271)2.65217322
122cell-cell junction maintenance (GO:0045217)2.65081551
123negative regulation of histone methylation (GO:0031061)2.64481177
124peptidyl-arginine N-methylation (GO:0035246)2.63463383
125peptidyl-arginine methylation (GO:0018216)2.63463383
126translesion synthesis (GO:0019985)2.63275396
127mitotic spindle assembly checkpoint (GO:0007094)2.63260805
128positive regulation of histone deacetylation (GO:0031065)2.63059916
129mRNA splice site selection (GO:0006376)2.62938278
130regulation of centrosome cycle (GO:0046605)2.62034752
131nerve growth factor signaling pathway (GO:0038180)2.61539620
132regulation of timing of cell differentiation (GO:0048505)2.60989210
133RNA stabilization (GO:0043489)2.60840547
134mRNA stabilization (GO:0048255)2.60840547
135establishment of integrated proviral latency (GO:0075713)2.60816959
136IMP biosynthetic process (GO:0006188)2.60078092
137artery development (GO:0060840)2.59419122
138negative regulation of RNA splicing (GO:0033119)2.59271867
139corticosteroid receptor signaling pathway (GO:0031958)2.59089846
140peptidyl-arginine omega-N-methylation (GO:0035247)2.58878467
141postreplication repair (GO:0006301)2.58723644
142spindle assembly checkpoint (GO:0071173)2.58623048
143telomere maintenance via telomerase (GO:0007004)2.58465085
144regulation of short-term neuronal synaptic plasticity (GO:0048172)2.58021281
145regulation of DNA methylation (GO:0044030)2.57606003
146regulation of development, heterochronic (GO:0040034)2.57246455
147response to X-ray (GO:0010165)2.56955747
148dorsal/ventral axis specification (GO:0009950)2.56689394
149microtubule depolymerization (GO:0007019)2.55837473
150recombinational repair (GO:0000725)2.55761936
151regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.55567028
152hindbrain development (GO:0030902)2.55523515
153forebrain neuron differentiation (GO:0021879)2.54849771
154double-strand break repair via homologous recombination (GO:0000724)2.54696848
155negative regulation of cell size (GO:0045792)2.54181537
156semaphorin-plexin signaling pathway (GO:0071526)2.53339615
157neuronal stem cell maintenance (GO:0097150)2.49620965
158clathrin coat assembly (GO:0048268)2.49463276
159G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.49184910
160proximal/distal pattern formation (GO:0009954)2.48313641
161positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)2.48054146
162axon extension (GO:0048675)2.46891869
163dosage compensation (GO:0007549)2.44977013
164lateral sprouting from an epithelium (GO:0060601)2.43940615
165negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.43495725
166negative regulation of cell killing (GO:0031342)2.43495725
167hippo signaling (GO:0035329)2.43145745
168positive regulation of synapse maturation (GO:0090129)2.42599710
169histone H3-K4 trimethylation (GO:0080182)2.41875523
170cell migration involved in sprouting angiogenesis (GO:0002042)2.41822753
171cerebral cortex neuron differentiation (GO:0021895)2.40474801
172positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.39711171
173nucleus localization (GO:0051647)2.38416391
174histone H4-K5 acetylation (GO:0043981)2.36437314
175histone H4-K8 acetylation (GO:0043982)2.36437314
176regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)2.34097642
177regulation of glutamate receptor signaling pathway (GO:1900449)2.33991475
178head development (GO:0060322)2.33497835
179regulation of synapse structural plasticity (GO:0051823)2.33342250
180negative regulation of mRNA processing (GO:0050686)2.32462424
181negative regulation of microtubule polymerization (GO:0031115)2.29313328
182histone H3-K4 methylation (GO:0051568)2.28381415
183positive regulation of filopodium assembly (GO:0051491)2.28021474
184neuromuscular process controlling balance (GO:0050885)2.27482506
185regulation of hippo signaling (GO:0035330)2.26666668
186G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.25595116
187intracellular estrogen receptor signaling pathway (GO:0030520)2.25383736
188regulation of glial cell proliferation (GO:0060251)2.25281705
189regulation of establishment of planar polarity (GO:0090175)2.25072783
190neural tube closure (GO:0001843)2.24627689
191negative regulation of vascular permeability (GO:0043116)2.24607704
192positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.24183153
193exploration behavior (GO:0035640)2.23991854
194positive regulation of axonogenesis (GO:0050772)2.23157628
195Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.22959164
196polarized epithelial cell differentiation (GO:0030859)2.22916866

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.40791289
2EZH2_22144423_ChIP-Seq_EOC_Human3.56274376
3E2F4_17652178_ChIP-ChIP_JURKAT_Human3.43516582
4RBPJ_22232070_ChIP-Seq_NCS_Mouse3.10871807
5NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.05295632
6EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse3.04028545
7MYC_22102868_ChIP-Seq_BL_Human2.92826173
8ZFP281_18757296_ChIP-ChIP_E14_Mouse2.82336522
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.80148075
10KDM2B_26808549_Chip-Seq_SUP-B15_Human2.71914637
11ZFP281_27345836_Chip-Seq_ESCs_Mouse2.69570455
12ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.67574036
13KDM2B_26808549_Chip-Seq_DND41_Human2.60906556
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.59983413
15WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.55046635
16KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.48220262
17KDM2B_26808549_Chip-Seq_K562_Human2.39311488
18HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.38639345
19KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.38332157
20EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.36070485
21POU5F1_16153702_ChIP-ChIP_HESCs_Human2.33041157
22ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.32929534
23TCF7_22412390_ChIP-Seq_EML_Mouse2.32069289
24SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.28403066
25KDM2B_26808549_Chip-Seq_JURKAT_Human2.26225021
26KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.25558526
27TCF3_18467660_ChIP-ChIP_MESCs_Mouse2.25385473
28DMRT1_23473982_ChIP-Seq_TESTES_Mouse2.21941049
29EWS_26573619_Chip-Seq_HEK293_Human2.19410339
30ZNF274_21170338_ChIP-Seq_K562_Hela2.19272928
31STAT6_21828071_ChIP-Seq_BEAS2B_Human2.18434427
32FUS_26573619_Chip-Seq_HEK293_Human2.15315801
33CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.15170053
34KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.12875133
35FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.12099124
36POU3F2_20337985_ChIP-ChIP_501MEL_Human2.09669245
37VDR_22108803_ChIP-Seq_LS180_Human1.98734871
38SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.98056348
39P300_19829295_ChIP-Seq_ESCs_Human1.92173272
40FOXM1_23109430_ChIP-Seq_U2OS_Human1.89926074
41EST1_17652178_ChIP-ChIP_JURKAT_Human1.88812987
42GBX2_23144817_ChIP-Seq_PC3_Human1.83402800
43TAF15_26573619_Chip-Seq_HEK293_Human1.83162124
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.82079380
45NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81341976
46DROSHA_22980978_ChIP-Seq_HELA_Human1.81294707
47RARB_27405468_Chip-Seq_BRAIN_Mouse1.79575734
48FLI1_27457419_Chip-Seq_LIVER_Mouse1.72800198
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.72574048
50IGF1R_20145208_ChIP-Seq_DFB_Human1.70573656
51ELK1_19687146_ChIP-ChIP_HELA_Human1.69694206
52EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.67229102
53RING1B_27294783_Chip-Seq_NPCs_Mouse1.66775985
54VDR_21846776_ChIP-Seq_THP-1_Human1.66590099
55PKCTHETA_26484144_Chip-Seq_BREAST_Human1.66214699
56SOX2_16153702_ChIP-ChIP_HESCs_Human1.61735191
57P300_27058665_Chip-Seq_ZR-75-30cells_Human1.61388000
58CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.60536193
59GABP_17652178_ChIP-ChIP_JURKAT_Human1.56459561
60MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.55971679
61CTBP2_25329375_ChIP-Seq_LNCAP_Human1.55028598
62SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52051507
63TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.51796415
64AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.50430059
65TP63_19390658_ChIP-ChIP_HaCaT_Human1.50139207
66E2F1_21310950_ChIP-Seq_MCF-7_Human1.49920644
67RNF2_18974828_ChIP-Seq_MESCs_Mouse1.49327575
68EZH2_18974828_ChIP-Seq_MESCs_Mouse1.49327575
69ERG_21242973_ChIP-ChIP_JURKAT_Human1.49098767
70FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.49042951
71RNF2_27304074_Chip-Seq_ESCs_Mouse1.48618747
72LXR_22292898_ChIP-Seq_THP-1_Human1.48073375
73ISL1_27105846_Chip-Seq_CPCs_Mouse1.47721851
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.47476841
75HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.45286462
76OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.44535944
77ELK3_25401928_ChIP-Seq_HUVEC_Human1.44218449
78NANOG_16153702_ChIP-ChIP_HESCs_Human1.43032203
79DNAJC2_21179169_ChIP-ChIP_NT2_Human1.42834710
80STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.42002693
81TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41982691
82POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.41982691
83CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.39794194
84CTBP1_25329375_ChIP-Seq_LNCAP_Human1.38709021
85NFIB_24661679_ChIP-Seq_LUNG_Mouse1.38416540
86PCGF2_27294783_Chip-Seq_ESCs_Mouse1.37958391
87WT1_25993318_ChIP-Seq_PODOCYTE_Human1.36676683
88YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35739275
89PADI4_21655091_ChIP-ChIP_MCF-7_Human1.35483192
90ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.34935117
91CREB1_26743006_Chip-Seq_LNCaP_Human1.34531038
92MYC_18940864_ChIP-ChIP_HL60_Human1.33520059
93JARID2_20064375_ChIP-Seq_MESCs_Mouse1.31212790
94EZH2_27304074_Chip-Seq_ESCs_Mouse1.30424611
95SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.30041024
96AR_21909140_ChIP-Seq_LNCAP_Human1.28359258
97SMAD3_21741376_ChIP-Seq_EPCs_Human1.27629643
98SMAD4_21799915_ChIP-Seq_A2780_Human1.26741339
99IRF1_19129219_ChIP-ChIP_H3396_Human1.26502394
100RING1B_27294783_Chip-Seq_ESCs_Mouse1.26292962
101PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25871861
102GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25258729
103BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.24304469
104E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.23972560
105SUZ12_27294783_Chip-Seq_ESCs_Mouse1.22571049
106EZH2_27294783_Chip-Seq_ESCs_Mouse1.22110229
107CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.21897902
108ZNF263_19887448_ChIP-Seq_K562_Human1.21067808
109SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.19817920
110PIAS1_25552417_ChIP-Seq_VCAP_Human1.19768993
111MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.19231830
112SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18892384
113NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.18239873
114EZH2_27294783_Chip-Seq_NPCs_Mouse1.17683537
115UTX_26944678_Chip-Seq_JUKART_Human1.17457248
116KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.17334217
117SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17268480
118OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16380326
119PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.16334665
120JARID2_20075857_ChIP-Seq_MESCs_Mouse1.14760178
121MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14527242
122SALL1_21062744_ChIP-ChIP_HESCs_Human1.14493671
123TBX3_20139965_ChIP-Seq_MESCs_Mouse1.13586509
124TBX3_20139965_ChIP-Seq_ESCs_Mouse1.13441330
125UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13422819
126SOX2_18555785_ChIP-Seq_MESCs_Mouse1.12720714
127STAT3_23295773_ChIP-Seq_U87_Human1.11906725
128SCL_19346495_ChIP-Seq_HPC-7_Human1.11562301
129TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.10965248
130VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.10090011
131SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.10077056
132SOX9_26525672_Chip-Seq_HEART_Mouse1.09744628
133TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.08975251
134REST_21632747_ChIP-Seq_MESCs_Mouse1.08911971
135WT1_19549856_ChIP-ChIP_CCG9911_Human1.08793766
136ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08747402
137SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08720177
138AHR_22903824_ChIP-Seq_MCF-7_Human1.08681802
139PCGF2_27294783_Chip-Seq_NPCs_Mouse1.08593523
140MAF_26560356_Chip-Seq_TH1_Human1.06979268
141STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.06950405
142NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.06888592
143CBX2_27304074_Chip-Seq_ESCs_Mouse1.05689684
144FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.05648187
145SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.04237220
146THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03860551
147MTF2_20144788_ChIP-Seq_MESCs_Mouse1.03359139
148MYCN_18555785_ChIP-Seq_MESCs_Mouse1.03162005
149TCF4_23295773_ChIP-Seq_U87_Human1.01389205
150NFE2_27457419_Chip-Seq_LIVER_Mouse1.01238911
151SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.00730240
152SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.00366886
153GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.00245197
154RNF2_27304074_Chip-Seq_NSC_Mouse0.99990013
155CREB1_15753290_ChIP-ChIP_HEK293T_Human0.98935240
156HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.98716219
157FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.98685046
158CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.98422216
159ARNT_22903824_ChIP-Seq_MCF-7_Human0.98301424
160TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97955536
161NANOG_18555785_Chip-Seq_ESCs_Mouse0.97827535
162UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.97702638
163BCAT_22108803_ChIP-Seq_LS180_Human0.97546649
164KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.97113504
165SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.96810815
166IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.96665151
167CBP_20019798_ChIP-Seq_JUKART_Human0.96665151
168SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.96650510
169CLOCK_20551151_ChIP-Seq_293T_Human0.96446431
170GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.96262734
171ER_23166858_ChIP-Seq_MCF-7_Human0.95550763
172TCF4_22108803_ChIP-Seq_LS180_Human0.95230930
173POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.94396752
174CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.94392001
175IKZF1_21737484_ChIP-ChIP_HCT116_Human0.94213030
176CIITA_25753668_ChIP-Seq_RAJI_Human0.93876144
177AR_19668381_ChIP-Seq_PC3_Human0.93629646
178KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.93585466
179RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.93170813
180RUNX2_22187159_ChIP-Seq_PCA_Human0.93046730
181NANOG_21062744_ChIP-ChIP_HESCs_Human0.92974711
182RACK7_27058665_Chip-Seq_MCF-7_Human0.91329193
183TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.91267500
184NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.91027430
185RUNX1_27514584_Chip-Seq_MCF-7_Human0.90975588
186AR_25329375_ChIP-Seq_VCAP_Human0.90917862
187YAP1_20516196_ChIP-Seq_MESCs_Mouse0.90426471
188TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.90241678
189REST_18959480_ChIP-ChIP_MESCs_Mouse0.90060040
190ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.89383146

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity3.46879193
2MP0000569_abnormal_digit_pigmentation3.46842842
3MP0008877_abnormal_DNA_methylation3.41358258
4MP0010030_abnormal_orbit_morphology3.34924165
5MP0006292_abnormal_olfactory_placode3.29001327
6MP0008057_abnormal_DNA_replication3.20450860
7MP0000778_abnormal_nervous_system3.11472560
8MP0010094_abnormal_chromosome_stability2.97351363
9MP0005076_abnormal_cell_differentiation2.89406663
10MP0008961_abnormal_basal_metabolism2.80943548
11MP0000537_abnormal_urethra_morphology2.63230069
12MP0002653_abnormal_ependyma_morphology2.62062222
13MP0005248_abnormal_Harderian_gland2.51252350
14MP0002938_white_spotting2.37300905
15MP0008058_abnormal_DNA_repair2.35788215
16MP0010234_abnormal_vibrissa_follicle2.32786406
17MP0001849_ear_inflammation2.28799514
18MP0003890_abnormal_embryonic-extraembry2.27927098
19MP0003705_abnormal_hypodermis_morpholog2.27331660
20MP0002102_abnormal_ear_morphology2.18561789
21MP0003111_abnormal_nucleus_morphology2.17356600
22MP0003122_maternal_imprinting2.17016925
23MP0003283_abnormal_digestive_organ2.15663304
24MP0003693_abnormal_embryo_hatching2.06799796
25MP0005394_taste/olfaction_phenotype1.94272429
26MP0005499_abnormal_olfactory_system1.94272429
27MP0004858_abnormal_nervous_system1.94026447
28MP0003937_abnormal_limbs/digits/tail_de1.86883084
29MP0003787_abnormal_imprinting1.84968549
30MP0009278_abnormal_bone_marrow1.80142219
31MP0003121_genomic_imprinting1.79755512
32MP0004957_abnormal_blastocyst_morpholog1.77945178
33MP0003861_abnormal_nervous_system1.77164458
34MP0003077_abnormal_cell_cycle1.76490055
35MP0005187_abnormal_penis_morphology1.75794926
36MP0003136_yellow_coat_color1.72246421
37MP0008789_abnormal_olfactory_epithelium1.72194559
38MP0003115_abnormal_respiratory_system1.69082200
39MP0004811_abnormal_neuron_physiology1.64032654
40MP0005423_abnormal_somatic_nervous1.63033333
41MP0000955_abnormal_spinal_cord1.61207650
42MP0003635_abnormal_synaptic_transmissio1.61111728
43MP0003119_abnormal_digestive_system1.60655801
44MP0008932_abnormal_embryonic_tissue1.60551526
45MP0003567_abnormal_fetal_cardiomyocyte1.58980572
46MP0006072_abnormal_retinal_apoptosis1.54172134
47MP0002234_abnormal_pharynx_morphology1.53045206
48MP0004885_abnormal_endolymph1.52042787
49MP0010352_gastrointestinal_tract_polyps1.51596433
50MP0009053_abnormal_anal_canal1.51054585
51MP0003718_maternal_effect1.49709702
52MP0002751_abnormal_autonomic_nervous1.49130207
53MP0001286_abnormal_eye_development1.47496987
54MP0002063_abnormal_learning/memory/cond1.45111791
55MP0002249_abnormal_larynx_morphology1.44767184
56MP0009780_abnormal_chondrocyte_physiolo1.41160666
57MP0000428_abnormal_craniofacial_morphol1.39851340
58MP0009697_abnormal_copulation1.39420647
59MP0002152_abnormal_brain_morphology1.38773897
60MP0002084_abnormal_developmental_patter1.35796644
61MP0003880_abnormal_central_pattern1.29367215
62MP0000049_abnormal_middle_ear1.29339396
63MP0001529_abnormal_vocalization1.28948236
64MP0003935_abnormal_craniofacial_develop1.28596488
65MP0003303_peritoneal_inflammation1.28115404
66MP0004270_analgesia1.26340261
67MP0003300_gastrointestinal_ulcer1.24785555
68MP0003941_abnormal_skin_development1.24095077
69MP0000733_abnormal_muscle_development1.23622824
70MP0002184_abnormal_innervation1.23530254
71MP0001299_abnormal_eye_distance/1.23019794
72MP0003123_paternal_imprinting1.23012800
73MP0004197_abnormal_fetal_growth/weight/1.22470251
74MP0001346_abnormal_lacrimal_gland1.21951849
75MP0005253_abnormal_eye_physiology1.20712424
76MP0001984_abnormal_olfaction1.20654348
77MP0000566_synostosis1.18299848
78MP0002092_abnormal_eye_morphology1.16587540
79MP0008007_abnormal_cellular_replicative1.15802781
80MP0002116_abnormal_craniofacial_bone1.14282218
81MP0000372_irregular_coat_pigmentation1.13932531
82MP0002081_perinatal_lethality1.12243653
83MP0010678_abnormal_skin_adnexa1.10794931
84MP0002089_abnormal_postnatal_growth/wei1.08990542
85MP0000534_abnormal_ureter_morphology1.08869483
86MP0002085_abnormal_embryonic_tissue1.08026979
87MP0000647_abnormal_sebaceous_gland1.07836271
88MP0002282_abnormal_trachea_morphology1.04792887
89MP0002111_abnormal_tail_morphology1.04650276
90MP0003385_abnormal_body_wall1.04635659
91MP0008770_decreased_survivor_rate1.04424518
92MP0005391_vision/eye_phenotype1.04270234
93MP0002909_abnormal_adrenal_gland1.04132137
94MP0002882_abnormal_neuron_morphology1.02650715
95MP0002557_abnormal_social/conspecific_i1.01138773
96MP0001486_abnormal_startle_reflex1.00640863
97MP0001485_abnormal_pinna_reflex1.00433883
98MP0003938_abnormal_ear_development1.00177307
99MP0001697_abnormal_embryo_size0.99777306
100MP0001348_abnormal_lacrimal_gland0.99160771
101MP0001324_abnormal_eye_pigmentation0.98471895
102MP0001177_atelectasis0.97451869
103MP0001270_distended_abdomen0.96257235
104MP0002233_abnormal_nose_morphology0.95706512
105MP0002697_abnormal_eye_size0.95286186
106MP0010307_abnormal_tumor_latency0.94879058
107MP0005551_abnormal_eye_electrophysiolog0.94628699
108MP0001188_hyperpigmentation0.93411704
109MP0003195_calcinosis0.93235216
110MP0003755_abnormal_palate_morphology0.93121829
111MP0002736_abnormal_nociception_after0.92432052
112MP0002925_abnormal_cardiovascular_devel0.92381803
113MP0002932_abnormal_joint_morphology0.90006345
114MP0005171_absent_coat_pigmentation0.87770909
115MP0003942_abnormal_urinary_system0.86501337
116MP0002086_abnormal_extraembryonic_tissu0.84779952
117MP0004133_heterotaxia0.84579895
118MP0001293_anophthalmia0.84266695
119MP0000467_abnormal_esophagus_morphology0.84153729
120MP0002088_abnormal_embryonic_growth/wei0.83795220
121MP0003091_abnormal_cell_migration0.83785321
122MP0009703_decreased_birth_body0.83216126
123MP0000350_abnormal_cell_proliferation0.82472752
124MP0009672_abnormal_birth_weight0.82223049
125MP0003943_abnormal_hepatobiliary_system0.81537541
126MP0001672_abnormal_embryogenesis/_devel0.81414576
127MP0005380_embryogenesis_phenotype0.81414576
128MP0000432_abnormal_head_morphology0.80467343
129MP0002090_abnormal_vision0.80194737
130MP0001929_abnormal_gametogenesis0.80169270
131MP0002254_reproductive_system_inflammat0.80002804
132MP0003984_embryonic_growth_retardation0.79432712
133MP0008995_early_reproductive_senescence0.79224372
134MP0002210_abnormal_sex_determination0.78715259
135MP0005623_abnormal_meninges_morphology0.78609460
136MP0006276_abnormal_autonomic_nervous0.78429652
137MP0004808_abnormal_hematopoietic_stem0.77451407
138MP0002638_abnormal_pupillary_reflex0.76675885
139MP0006035_abnormal_mitochondrial_morpho0.76305161
140MP0001730_embryonic_growth_arrest0.76097487
141MP0002064_seizures0.75546356
142MP0001943_abnormal_respiration0.75238586
143MP0003632_abnormal_nervous_system0.75195582
144MP0000653_abnormal_sex_gland0.75077393
145MP0000631_abnormal_neuroendocrine_gland0.74633055
146MP0000383_abnormal_hair_follicle0.73240429
147MP0005367_renal/urinary_system_phenotyp0.73121890
148MP0000516_abnormal_urinary_system0.73121890
149MP0004233_abnormal_muscle_weight0.72271798
150MP0001915_intracranial_hemorrhage0.71206722
151MP0010770_preweaning_lethality0.70071782

Predicted human phenotypes

RankGene SetZ-score
1Hyperacusis (HP:0010780)4.24347700
2Intestinal atresia (HP:0011100)4.02183559
3Elfin facies (HP:0004428)3.30079031
4Macroorchidism (HP:0000053)3.25548086
5Short 4th metacarpal (HP:0010044)3.14747491
6Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.14747491
7Chromosomal breakage induced by crosslinking agents (HP:0003221)3.08198584
8Renal duplication (HP:0000075)3.07581008
9Colon cancer (HP:0003003)2.97616777
10Chromsome breakage (HP:0040012)2.96471638
11Overriding aorta (HP:0002623)2.95251198
12Ectopic kidney (HP:0000086)2.94800996
13Renovascular hypertension (HP:0100817)2.94501479
14Abnormality of chromosome stability (HP:0003220)2.91944780
15Aplasia/Hypoplasia of the uvula (HP:0010293)2.86980044
16Trigonocephaly (HP:0000243)2.85446719
17Abnormal lung lobation (HP:0002101)2.83381399
18Insomnia (HP:0100785)2.82844702
19Meckel diverticulum (HP:0002245)2.82612867
20Abnormality of the ileum (HP:0001549)2.78143304
21Rhabdomyosarcoma (HP:0002859)2.74317761
22Septo-optic dysplasia (HP:0100842)2.71957922
23Gastrointestinal atresia (HP:0002589)2.60670410
24Heterotopia (HP:0002282)2.60059111
25Pointed chin (HP:0000307)2.56687724
26Astrocytoma (HP:0009592)2.56211918
27Abnormality of the astrocytes (HP:0100707)2.56211918
28Obsessive-compulsive behavior (HP:0000722)2.54408439
29Esophageal atresia (HP:0002032)2.54235608
30Increased nuchal translucency (HP:0010880)2.53599579
31Amyotrophic lateral sclerosis (HP:0007354)2.52549793
32Abnormality of the 4th metacarpal (HP:0010012)2.50260413
33Abnormality of the duodenum (HP:0002246)2.49834251
34Nephroblastoma (Wilms tumor) (HP:0002667)2.49388072
35Shallow orbits (HP:0000586)2.49131968
36Abnormality of the lower motor neuron (HP:0002366)2.47000384
37Renal hypoplasia (HP:0000089)2.42752078
38Volvulus (HP:0002580)2.41456811
39Oligodactyly (hands) (HP:0001180)2.41259971
40Ependymoma (HP:0002888)2.41085255
41Cortical dysplasia (HP:0002539)2.40810837
42Abnormal hair whorl (HP:0010721)2.38648199
43Chronic hepatic failure (HP:0100626)2.37046763
44Abnormality of the parathyroid morphology (HP:0011766)2.36577119
45Abnormality of the diencephalon (HP:0010662)2.33434038
46Flat cornea (HP:0007720)2.32810581
47Supranuclear gaze palsy (HP:0000605)2.32250495
48Pancreatic islet-cell hyperplasia (HP:0004510)2.31796228
49Small intestinal stenosis (HP:0012848)2.31624023
50Duodenal stenosis (HP:0100867)2.31624023
51Aplasia/Hypoplasia of the sternum (HP:0006714)2.31568370
52Embryonal renal neoplasm (HP:0011794)2.30421438
53Absent radius (HP:0003974)2.30190148
54Neoplasm of the adrenal cortex (HP:0100641)2.30122306
55Abnormality of the preputium (HP:0100587)2.26631075
56Pancreatic cysts (HP:0001737)2.25188767
57Failure to thrive in infancy (HP:0001531)2.23446262
58Hepatoblastoma (HP:0002884)2.22782925
59Triphalangeal thumb (HP:0001199)2.21401200
60Pancreatic fibrosis (HP:0100732)2.19386540
61Subacute progressive viral hepatitis (HP:0006572)2.19370170
62Labial hypoplasia (HP:0000066)2.19320102
63Growth hormone deficiency (HP:0000824)2.18375315
64Sloping forehead (HP:0000340)2.18370432
65True hermaphroditism (HP:0010459)2.18053400
66Birth length less than 3rd percentile (HP:0003561)2.17770879
67Aplasia involving forearm bones (HP:0009822)2.17198397
68Absent forearm bone (HP:0003953)2.17198397
69Uterine leiomyosarcoma (HP:0002891)2.16853617
70Leiomyosarcoma (HP:0100243)2.16853617
71Neoplasm of striated muscle (HP:0009728)2.15934242
72Preaxial hand polydactyly (HP:0001177)2.14088217
73Nephronophthisis (HP:0000090)2.12954860
74Oligodactyly (HP:0012165)2.12893334
75Neoplasm of the heart (HP:0100544)2.12758347
76Hypoplastic female external genitalia (HP:0012815)2.12142928
77Transitional cell carcinoma of the bladder (HP:0006740)2.11442642
78Sacral dimple (HP:0000960)2.11431879
79Apathy (HP:0000741)2.10931674
80Dandy-Walker malformation (HP:0001305)2.09995300
81Hyperinsulinemic hypoglycemia (HP:0000825)2.09616412
82Lymphangioma (HP:0100764)2.06298056
83Arnold-Chiari malformation (HP:0002308)2.06180664
84High anterior hairline (HP:0009890)2.05373740
85Ankyloglossia (HP:0010296)2.04631980
86Pseudobulbar signs (HP:0002200)2.04128669
87Inappropriate behavior (HP:0000719)2.01302342
88Cutis marmorata (HP:0000965)2.01044407
89Anencephaly (HP:0002323)2.00346332
90Cerebral aneurysm (HP:0004944)2.00289537
91Medulloblastoma (HP:0002885)1.99294821
92Abnormality of the metopic suture (HP:0005556)1.99151487
93Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.98904014
94Hypoglycemic seizures (HP:0002173)1.98676598
95Agnosia (HP:0010524)1.96643052
96Hallux valgus (HP:0001822)1.96022432
97Bowel diverticulosis (HP:0005222)1.96014766
98Abnormality of the fingertips (HP:0001211)1.95782329
99Optic nerve hypoplasia (HP:0000609)1.95346483
100Cupped ear (HP:0000378)1.94159723
101Turricephaly (HP:0000262)1.94020485
102Annular pancreas (HP:0001734)1.93323999
103Deviation of the hallux (HP:0010051)1.93186478
104Narrow palate (HP:0000189)1.92377428
105Abnormality of the intervertebral disk (HP:0005108)1.90383115
106Molar tooth sign on MRI (HP:0002419)1.90319897
107Abnormality of midbrain morphology (HP:0002418)1.90319897
108Bladder carcinoma (HP:0002862)1.90291867
109Bladder neoplasm (HP:0009725)1.90291867
110Abnormality of the septum pellucidum (HP:0007375)1.89398034
111Open mouth (HP:0000194)1.89013429
112Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.88576788
113Germ cell neoplasia (HP:0100728)1.87495469
114Diminished motivation (HP:0000745)1.87261451
115Bifid tongue (HP:0010297)1.86341417
116Neoplasm of the oral cavity (HP:0100649)1.85456859
117Aqueductal stenosis (HP:0002410)1.85185163
118Anal stenosis (HP:0002025)1.85168128
119Congenital malformation of the right heart (HP:0011723)1.84071570
120Double outlet right ventricle (HP:0001719)1.84071570
121Tented upper lip vermilion (HP:0010804)1.83888660
122Absent septum pellucidum (HP:0001331)1.83874996
123Malignant gastrointestinal tract tumors (HP:0006749)1.83802515
124Gastrointestinal carcinoma (HP:0002672)1.83802515
125Glioma (HP:0009733)1.83772489
126Buphthalmos (HP:0000557)1.82768946
127Disinhibition (HP:0000734)1.82265487
128Megalocornea (HP:0000485)1.81895330
129Abnormality of the carotid arteries (HP:0005344)1.81118211
130Spina bifida occulta (HP:0003298)1.81109521
131Enlarged penis (HP:0000040)1.79475682
132Anophthalmia (HP:0000528)1.79429754
133Absent frontal sinuses (HP:0002688)1.78643340
134Hemivertebrae (HP:0002937)1.77311167
135Chorioretinal coloboma (HP:0000567)1.76174192
136Abnormality of endocrine pancreas physiology (HP:0012093)1.75966450
137Abnormality of the pancreatic islet cells (HP:0006476)1.75966450
138Excessive salivation (HP:0003781)1.74087487
139Drooling (HP:0002307)1.74087487
140Precocious puberty (HP:0000826)1.73460777
141Genetic anticipation (HP:0003743)1.73342195
142Micropenis (HP:0000054)1.72415953
143Anal atresia (HP:0002023)1.71707547
144Thick eyebrow (HP:0000574)1.71531739
145Patellar aplasia (HP:0006443)1.71252403
146Vaginal atresia (HP:0000148)1.70983307
147Genital tract atresia (HP:0001827)1.70473333
148Holoprosencephaly (HP:0001360)1.70329831
149Long eyelashes (HP:0000527)1.69654884
150Attention deficit hyperactivity disorder (HP:0007018)1.69610138
151Abnormality of oral frenula (HP:0000190)1.69461636
152Fibrous tissue neoplasm (HP:0012316)1.68998164
153Postaxial foot polydactyly (HP:0001830)1.68643754
154Smooth philtrum (HP:0000319)1.67854993
155Broad thumb (HP:0011304)1.67442881
156Abnormality of the renal medulla (HP:0100957)1.67203526
157Exotropia (HP:0000577)1.66536231
158Optic nerve coloboma (HP:0000588)1.66517171
159Horseshoe kidney (HP:0000085)1.66308815
160Insidious onset (HP:0003587)1.65610809
161Termporal pattern (HP:0011008)1.65610809
162Homocystinuria (HP:0002156)1.65196869
163Abnormality of homocysteine metabolism (HP:0010919)1.65196869
164Pendular nystagmus (HP:0012043)1.64915789
165Clubbing of toes (HP:0100760)1.64649497
166Abnormality of the antihelix (HP:0009738)1.64639893
167Cutaneous finger syndactyly (HP:0010554)1.64606478
168Megalencephaly (HP:0001355)1.64307248
169Focal seizures (HP:0007359)1.64054799
170Cerebral inclusion bodies (HP:0100314)1.64052580
171Fibroma (HP:0010614)1.64013747
172Postaxial hand polydactyly (HP:0001162)1.63047604
173Abnormal biliary tract physiology (HP:0012439)1.63018750
174Bile duct proliferation (HP:0001408)1.63018750
175Bilateral microphthalmos (HP:0007633)1.61920554
176Stereotypic behavior (HP:0000733)1.61391641
177Patellar dislocation (HP:0002999)1.60132031
178Vertebral arch anomaly (HP:0008438)1.59468042
179Short philtrum (HP:0000322)1.58872260
180Bladder diverticulum (HP:0000015)1.55515838
181Broad metatarsal (HP:0001783)1.55180453
182Urinary urgency (HP:0000012)1.55171330
183Abnormality of the labia minora (HP:0012880)1.52461148
184Visual hallucinations (HP:0002367)1.52451746
185Bronchomalacia (HP:0002780)1.52240285
186Urethral obstruction (HP:0000796)1.50908829
187Generalized hypotonia (HP:0001290)1.50268785
188Tapered finger (HP:0001182)1.48537912
189Vesicoureteral reflux (HP:0000076)1.48044783

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK33.70158106
2MAP3K93.61836525
3MARK13.23634401
4MKNK23.17056194
5TNIK3.15466095
6MAP3K103.10980911
7TRIB33.02892069
8EEF2K2.98687939
9TRIM282.90536201
10FGFR22.86536452
11BUB12.62334574
12TSSK62.58376099
13ICK2.47708200
14FRK2.46564662
15SIK22.44371929
16CDK122.41546547
17TYRO32.37514145
18SRPK12.33818761
19BRSK22.31971812
20PLK32.31633782
21NUAK12.31362533
22TTK2.27937925
23PNCK2.20241444
24PKN22.08743115
25WEE12.00618791
26PDGFRA1.96990153
27ZAK1.95913889
28KSR11.84241633
29NTRK21.82045478
30UHMK11.81161175
31PLK41.79841913
32FGFR31.79413197
33BMPR1B1.78130470
34EPHB21.76035412
35RIPK11.60991058
36SIK11.60830538
37CAMK1G1.54887204
38CASK1.54285626
39ACVR1B1.53093639
40PASK1.52468634
41PAK61.48925342
42PTK61.45559996
43INSRR1.40560557
44BRD41.39388846
45TAF11.35969664
46ALK1.35750708
47FGFR41.32698648
48BCR1.25266247
49PBK1.24216448
50PLK11.22815039
51CDK61.21170724
52ERBB31.17716395
53RET1.12507133
54PLK21.10586407
55ERBB21.05306588
56CAMK1D1.04499588
57ATR1.04235198
58MINK11.03735337
59NTRK31.02898122
60STK31.00873617
61DYRK1B1.00777901
62MTOR1.00656869
63BRSK10.99502878
64NEK10.97911671
65YES10.97628770
66PDGFRB0.96152339
67MAP3K40.96078586
68FGFR10.95032291
69NLK0.94702258
70MAP4K20.94263205
71TGFBR10.93058829
72KSR20.91834841
73ATM0.91092850
74VRK10.89909220
75CHEK20.88864303
76TGFBR20.88398586
77DDR20.87703577
78DYRK30.84593123
79OXSR10.83917670
80CAMKK10.83288694
81STK390.82325344
82EIF2AK10.81460273
83CSNK1G10.81031190
84MAP3K70.80844330
85STK38L0.79442730
86EIF2AK30.77763575
87HIPK20.77350845
88PRKD30.76283500
89MAP2K40.76181640
90BMX0.74796629
91SGK30.72715345
92SGK20.72348324
93MST40.71060370
94DAPK20.71017622
95DMPK0.70469498
96CHEK10.69952661
97STK110.69220663
98CSF1R0.68981227
99CDC42BPA0.67872306
100MARK20.67458796
101CSNK1A1L0.65486804
102ERN10.65320065
103CDC70.65284000
104PAK40.64784667
105LATS20.64735908
106CDK50.63517334
107SIK30.62021384
108STK40.61435782
109RPS6KA20.60992965
110PAK20.60966344
111TAOK10.60224340
112CDK30.60209632
113PAK30.56614578
114LATS10.54987019
115CDK10.54817250
116PRKCH0.54651380
117CSNK1G20.53032928
118RPS6KA10.52806330
119MAPK130.52525657
120PRKCZ0.52090438
121DYRK20.52022096
122PRKDC0.50860922
123SCYL20.50325032
124GRK10.50069726
125AURKB0.49392766
126AKT30.49338098
127GRK60.48971311
128CSNK1E0.48389236
129CAMK40.48372416
130LRRK20.47960338
131VRK20.47834555
132FYN0.47658413
133RPS6KA40.47549159
134MAPK90.47257377
135PRKCG0.46858544
136CSNK1D0.46464206
137PTK20.45245467
138MKNK10.44512004
139CDK40.44347561
140MATK0.44199869
141DYRK1A0.42990453
142PRKD10.42972379
143MAPK100.42398970
144CCNB10.42186823
145CSNK1G30.40220640
146SGK4940.40078258
147SGK2230.40078258
148PINK10.40072540
149EIF2AK20.39635889
150MAPK80.39625846
151EGFR0.39305079
152NEK20.38794008
153CDK190.38631578
154MELK0.38366413
155JAK20.38123832
156CDK20.38110969
157CDK180.36962924
158GSK3B0.36886674
159CDK150.36486515
160SGK10.35875341
161HCK0.35617831
162EPHA40.35398962
163AKT20.35230101
164MAPK140.34488877
165PKN10.32514412
166NME10.31089508
167STK160.30338798

Predicted pathways (KEGG)

RankGene SetZ-score
1Non-homologous end-joining_Homo sapiens_hsa034504.08233605
2Homologous recombination_Homo sapiens_hsa034403.16515076
3Mismatch repair_Homo sapiens_hsa034303.15160962
4Fanconi anemia pathway_Homo sapiens_hsa034603.14907738
5DNA replication_Homo sapiens_hsa030302.64955729
6Cell cycle_Homo sapiens_hsa041102.36400219
7RNA polymerase_Homo sapiens_hsa030202.31789803
8RNA transport_Homo sapiens_hsa030132.30019504
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.26040719
10Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.17880317
11Steroid biosynthesis_Homo sapiens_hsa001002.17144248
12Basal transcription factors_Homo sapiens_hsa030222.05656007
13Protein export_Homo sapiens_hsa030601.97956085
14Selenocompound metabolism_Homo sapiens_hsa004501.90719670
15Propanoate metabolism_Homo sapiens_hsa006401.89179648
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.88343587
17RNA degradation_Homo sapiens_hsa030181.82764739
18Spliceosome_Homo sapiens_hsa030401.80942217
19Chronic myeloid leukemia_Homo sapiens_hsa052201.80255770
20Notch signaling pathway_Homo sapiens_hsa043301.79363741
21Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.73543747
22Maturity onset diabetes of the young_Homo sapiens_hsa049501.70920426
23Basal cell carcinoma_Homo sapiens_hsa052171.69858510
24mTOR signaling pathway_Homo sapiens_hsa041501.68605273
25Colorectal cancer_Homo sapiens_hsa052101.66453310
26Axon guidance_Homo sapiens_hsa043601.63342646
27Endometrial cancer_Homo sapiens_hsa052131.63161645
28Proteasome_Homo sapiens_hsa030501.62767904
29Base excision repair_Homo sapiens_hsa034101.62753263
30Neurotrophin signaling pathway_Homo sapiens_hsa047221.53362008
31Glioma_Homo sapiens_hsa052141.53246550
32Non-small cell lung cancer_Homo sapiens_hsa052231.52161333
33Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.50215174
34Type II diabetes mellitus_Homo sapiens_hsa049301.45595336
35One carbon pool by folate_Homo sapiens_hsa006701.44754571
36Cysteine and methionine metabolism_Homo sapiens_hsa002701.42323286
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.40279166
38Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.39695674
39Nitrogen metabolism_Homo sapiens_hsa009101.38319284
40Dorso-ventral axis formation_Homo sapiens_hsa043201.36534800
41Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.35866077
42Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.35686778
43Hippo signaling pathway_Homo sapiens_hsa043901.34005322
44ErbB signaling pathway_Homo sapiens_hsa040121.33622358
45MicroRNAs in cancer_Homo sapiens_hsa052061.30402017
46Lysine degradation_Homo sapiens_hsa003101.29744619
47Nucleotide excision repair_Homo sapiens_hsa034201.29578814
48Thyroid hormone signaling pathway_Homo sapiens_hsa049191.28652311
49Estrogen signaling pathway_Homo sapiens_hsa049151.27048616
50VEGF signaling pathway_Homo sapiens_hsa043701.21182296
51Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.20316837
52Gap junction_Homo sapiens_hsa045401.18979644
53Long-term potentiation_Homo sapiens_hsa047201.18111995
54B cell receptor signaling pathway_Homo sapiens_hsa046621.17785432
55Wnt signaling pathway_Homo sapiens_hsa043101.16939762
56Proteoglycans in cancer_Homo sapiens_hsa052051.16885847
57Melanogenesis_Homo sapiens_hsa049161.15297958
58Vitamin B6 metabolism_Homo sapiens_hsa007501.15215510
59Phototransduction_Homo sapiens_hsa047441.14878224
60Adherens junction_Homo sapiens_hsa045201.14677895
61Pancreatic cancer_Homo sapiens_hsa052121.13241657
62TGF-beta signaling pathway_Homo sapiens_hsa043501.13102293
63Circadian entrainment_Homo sapiens_hsa047131.11018846
64Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.10049271
65Renal cell carcinoma_Homo sapiens_hsa052111.09798622
66Glutamatergic synapse_Homo sapiens_hsa047241.09173042
67Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.08927887
68GnRH signaling pathway_Homo sapiens_hsa049121.08298534
69Aldosterone synthesis and secretion_Homo sapiens_hsa049251.05544051
70Hedgehog signaling pathway_Homo sapiens_hsa043401.04244130
71Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.04063480
72Butanoate metabolism_Homo sapiens_hsa006501.03934393
73Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.03835322
74Dopaminergic synapse_Homo sapiens_hsa047281.03708844
75Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.01834525
76Cholinergic synapse_Homo sapiens_hsa047251.01080220
77Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.98368151
78Phosphatidylinositol signaling system_Homo sapiens_hsa040700.98343253
79Gastric acid secretion_Homo sapiens_hsa049710.96358323
80AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.96062186
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.95038610
82Prolactin signaling pathway_Homo sapiens_hsa049170.94886183
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.94703196
84Acute myeloid leukemia_Homo sapiens_hsa052210.94495042
85Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.94459574
86Choline metabolism in cancer_Homo sapiens_hsa052310.94181190
87Viral myocarditis_Homo sapiens_hsa054160.92548145
88Purine metabolism_Homo sapiens_hsa002300.91826171
89Olfactory transduction_Homo sapiens_hsa047400.91299077
90T cell receptor signaling pathway_Homo sapiens_hsa046600.91139199
91MAPK signaling pathway_Homo sapiens_hsa040100.90440141
92Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.90106849
93Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.89375143
94Pyrimidine metabolism_Homo sapiens_hsa002400.89309226
95Renin secretion_Homo sapiens_hsa049240.89063997
96GABAergic synapse_Homo sapiens_hsa047270.88153808
97mRNA surveillance pathway_Homo sapiens_hsa030150.86548701
98Oxytocin signaling pathway_Homo sapiens_hsa049210.86456256
99Cocaine addiction_Homo sapiens_hsa050300.86442504
100Carbohydrate digestion and absorption_Homo sapiens_hsa049730.86367032
101Central carbon metabolism in cancer_Homo sapiens_hsa052300.86112447
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.85782067
103Rap1 signaling pathway_Homo sapiens_hsa040150.84863999
104Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.84848506
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.84824831
1062-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.84495266
107Insulin resistance_Homo sapiens_hsa049310.84091964
108HTLV-I infection_Homo sapiens_hsa051660.83834567
109Insulin signaling pathway_Homo sapiens_hsa049100.82512792
110Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.82480896
111Pyruvate metabolism_Homo sapiens_hsa006200.81227087
112Morphine addiction_Homo sapiens_hsa050320.80998334
113Platelet activation_Homo sapiens_hsa046110.79515972
114Insulin secretion_Homo sapiens_hsa049110.77591927
115Pathways in cancer_Homo sapiens_hsa052000.77079400
116Long-term depression_Homo sapiens_hsa047300.75774522
117Chemokine signaling pathway_Homo sapiens_hsa040620.75647522
118Salivary secretion_Homo sapiens_hsa049700.75224967
119Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.74524464
120Small cell lung cancer_Homo sapiens_hsa052220.74498541
121Osteoclast differentiation_Homo sapiens_hsa043800.73616373
122Focal adhesion_Homo sapiens_hsa045100.72911829
123p53 signaling pathway_Homo sapiens_hsa041150.72715365
124Oocyte meiosis_Homo sapiens_hsa041140.71380397
125Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.70228675
126Transcriptional misregulation in cancer_Homo sapiens_hsa052020.68962259
127AMPK signaling pathway_Homo sapiens_hsa041520.68442702
128Inositol phosphate metabolism_Homo sapiens_hsa005620.68061032
129cGMP-PKG signaling pathway_Homo sapiens_hsa040220.68025452
130Fatty acid elongation_Homo sapiens_hsa000620.67286398
131Tight junction_Homo sapiens_hsa045300.67163793
132Amphetamine addiction_Homo sapiens_hsa050310.66435764
133Nicotine addiction_Homo sapiens_hsa050330.65858261
134Hepatitis B_Homo sapiens_hsa051610.65641870
135Leukocyte transendothelial migration_Homo sapiens_hsa046700.65070297
136Endocytosis_Homo sapiens_hsa041440.64717819
137cAMP signaling pathway_Homo sapiens_hsa040240.63928521
138FoxO signaling pathway_Homo sapiens_hsa040680.63468138
139Regulation of actin cytoskeleton_Homo sapiens_hsa048100.62573263
140Fatty acid metabolism_Homo sapiens_hsa012120.61123860
141Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.61082406
142Synaptic vesicle cycle_Homo sapiens_hsa047210.60764279
143Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.59701873
144Prostate cancer_Homo sapiens_hsa052150.55757265
145Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.51593069
146beta-Alanine metabolism_Homo sapiens_hsa004100.50191946
147Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.49932353
148Vitamin digestion and absorption_Homo sapiens_hsa049770.48558760
149Biosynthesis of amino acids_Homo sapiens_hsa012300.48546911
150Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48176183
151Ether lipid metabolism_Homo sapiens_hsa005650.47636842
152Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.45993556
153Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45241862
154Circadian rhythm_Homo sapiens_hsa047100.43210776
155Regulation of autophagy_Homo sapiens_hsa041400.42007763
156Taste transduction_Homo sapiens_hsa047420.41969444
157Tryptophan metabolism_Homo sapiens_hsa003800.40424878
158Fatty acid degradation_Homo sapiens_hsa000710.39449361
159Carbon metabolism_Homo sapiens_hsa012000.37934166
160Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.36296479
161Huntingtons disease_Homo sapiens_hsa050160.35138855
162Metabolic pathways_Homo sapiens_hsa011000.33673241
163Alcoholism_Homo sapiens_hsa050340.32934444
164Glucagon signaling pathway_Homo sapiens_hsa049220.28197161
165Pentose and glucuronate interconversions_Homo sapiens_hsa000400.27244154
166Retinol metabolism_Homo sapiens_hsa008300.24808696
167Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.24777451
168Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.22916151
169Thyroid cancer_Homo sapiens_hsa052160.22039806
170Glycerolipid metabolism_Homo sapiens_hsa005610.21288344
171Primary bile acid biosynthesis_Homo sapiens_hsa001200.20827934

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