SETMAR

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 fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proline metabolic process (GO:0006560)8.50140187
2transcription from mitochondrial promoter (GO:0006390)8.24198201
3replication fork processing (GO:0031297)7.93288077
4DNA deamination (GO:0045006)7.68878902
5embryonic process involved in female pregnancy (GO:0060136)7.54127059
6positive regulation of protein homooligomerization (GO:0032464)7.25178537
7oxidative demethylation (GO:0070989)6.50851332
8maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)6.41035482
9regulation of protein homooligomerization (GO:0032462)6.32307364
10regulation of integrin activation (GO:0033623)6.05951206
11establishment of apical/basal cell polarity (GO:0035089)5.96961197
12DNA strand renaturation (GO:0000733)5.52296516
13somatic hypermutation of immunoglobulin genes (GO:0016446)5.36859569
14somatic diversification of immune receptors via somatic mutation (GO:0002566)5.36859569
15mitochondrial DNA metabolic process (GO:0032042)5.25124085
16establishment of monopolar cell polarity (GO:0061162)5.21784479
17establishment or maintenance of monopolar cell polarity (GO:0061339)5.21784479
18viral mRNA export from host cell nucleus (GO:0046784)5.13196818
19poly(A)+ mRNA export from nucleus (GO:0016973)5.08421604
20mitotic G1 DNA damage checkpoint (GO:0031571)4.73972892
21establishment of protein localization to mitochondrial membrane (GO:0090151)4.67406095
22glutamine family amino acid biosynthetic process (GO:0009084)4.60804884
23formation of translation preinitiation complex (GO:0001731)4.52744880
24negative regulation of JAK-STAT cascade (GO:0046426)4.51057225
25mRNA cleavage (GO:0006379)4.49454322
26embryonic placenta development (GO:0001892)4.45800615
27base-excision repair (GO:0006284)4.37208870
28spliceosomal tri-snRNP complex assembly (GO:0000244)4.34675360
29negative regulation of fatty acid biosynthetic process (GO:0045717)4.32410078
30regulation of translational fidelity (GO:0006450)4.31492770
31G1 DNA damage checkpoint (GO:0044783)4.31218997
32negative regulation of protein oligomerization (GO:0032460)4.31151450
33base-excision repair, AP site formation (GO:0006285)4.29750541
34tryptophan catabolic process (GO:0006569)4.26742358
35indole-containing compound catabolic process (GO:0042436)4.26742358
36indolalkylamine catabolic process (GO:0046218)4.26742358
37cellular response to ATP (GO:0071318)4.26451276
38nucleotide-excision repair, DNA gap filling (GO:0006297)4.26009052
39negative regulation of Ras GTPase activity (GO:0034261)4.22693347
40protein K11-linked deubiquitination (GO:0035871)4.12633425
41mitotic G1/S transition checkpoint (GO:0044819)4.10414524
42positive regulation of protein oligomerization (GO:0032461)4.10097781
43telomere maintenance via semi-conservative replication (GO:0032201)4.06681914
44pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.00475702
45cellular response to zinc ion (GO:0071294)3.98861028
46positive regulation of developmental pigmentation (GO:0048087)3.98280044
47regulation of protein oligomerization (GO:0032459)3.96378636
48negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.93350162
49DNA topological change (GO:0006265)3.90537427
50mitochondrial RNA metabolic process (GO:0000959)3.89150021
51positive regulation by host of viral transcription (GO:0043923)3.85901573
52negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.83069063
53positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.80620098
54positive regulation of mitotic sister chromatid separation (GO:1901970)3.80620098
55positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.80620098
56DNA ligation (GO:0006266)3.78338101
57maturation of 5.8S rRNA (GO:0000460)3.78173763
58synapsis (GO:0007129)3.78117993
59indolalkylamine metabolic process (GO:0006586)3.75142234
60tryptophan metabolic process (GO:0006568)3.71931378
61piRNA metabolic process (GO:0034587)3.71696534
62* DNA double-strand break processing (GO:0000729)3.71493824
63kynurenine metabolic process (GO:0070189)3.68388383
64nodal signaling pathway (GO:0038092)3.63124539
65L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.62951991
66glial cell migration (GO:0008347)3.62527148
67face development (GO:0060324)3.62316871
68convergent extension (GO:0060026)3.57467467
69negative regulation of mRNA processing (GO:0050686)3.55040434
70recombinational repair (GO:0000725)3.51300327
71meiotic chromosome segregation (GO:0045132)3.51018271
72GDP-mannose metabolic process (GO:0019673)3.50893942
73termination of RNA polymerase II transcription (GO:0006369)3.50384877
74sulfur amino acid catabolic process (GO:0000098)3.49687222
75double-strand break repair via homologous recombination (GO:0000724)3.48589452
76dosage compensation (GO:0007549)3.48324451
77photoreceptor cell maintenance (GO:0045494)3.46269110
78DNA methylation involved in gamete generation (GO:0043046)3.41455719
79telomere maintenance via recombination (GO:0000722)3.37717496
80regulation of double-strand break repair via homologous recombination (GO:0010569)3.37425672
81embryonic camera-type eye development (GO:0031076)3.37243991
82regulation of sister chromatid cohesion (GO:0007063)3.36975593
83respiratory chain complex IV assembly (GO:0008535)3.34389261
84single strand break repair (GO:0000012)3.30309205
85labyrinthine layer development (GO:0060711)3.29070266
86DNA strand elongation involved in DNA replication (GO:0006271)3.26874375
87histone H4-K12 acetylation (GO:0043983)3.24327824
88regulation of mitochondrial depolarization (GO:0051900)3.23824981
89kinetochore assembly (GO:0051382)3.22238799
90inositol phosphate catabolic process (GO:0071545)3.21662997
91neural tube formation (GO:0001841)3.20526885
92detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.20056813
93cullin deneddylation (GO:0010388)3.18948198
94cytochrome complex assembly (GO:0017004)3.17556822
95pyrimidine nucleotide catabolic process (GO:0006244)3.16980902
96retinal cone cell development (GO:0046549)3.14989406
97very-low-density lipoprotein particle assembly (GO:0034379)3.14837239
98male meiosis (GO:0007140)3.14778441
99trophectodermal cell differentiation (GO:0001829)3.12914924
100negative regulation of RNA splicing (GO:0033119)3.11870406
101histone H2A acetylation (GO:0043968)3.11149403
102DNA demethylation (GO:0080111)3.10759086
103negative regulation of heart rate (GO:0010459)3.09082181
104peptidyl-histidine modification (GO:0018202)3.06180394
105DNA strand elongation (GO:0022616)3.05558003
106L-methionine salvage (GO:0071267)3.05367362
107L-methionine biosynthetic process (GO:0071265)3.05367362
108amino acid salvage (GO:0043102)3.05367362
109reciprocal meiotic recombination (GO:0007131)3.04920956
110reciprocal DNA recombination (GO:0035825)3.04920956
111protein deneddylation (GO:0000338)3.02535041
112protein targeting to vacuole (GO:0006623)3.02007813
113protein targeting to lysosome (GO:0006622)3.02007813
114establishment of protein localization to vacuole (GO:0072666)3.02007813
115regulation of cAMP-dependent protein kinase activity (GO:2000479)3.01869693
116negative regulation of response to food (GO:0032096)3.01825066
117negative regulation of appetite (GO:0032099)3.01825066
118fucose catabolic process (GO:0019317)2.99309773
119L-fucose metabolic process (GO:0042354)2.99309773
120L-fucose catabolic process (GO:0042355)2.99309773
121mitotic nuclear envelope reassembly (GO:0007084)2.98602410
122nuclear envelope reassembly (GO:0031468)2.98602410
123regulation of cell size (GO:0008361)2.98121078
124apoptotic process involved in morphogenesis (GO:0060561)2.98118445
125regulation of RNA export from nucleus (GO:0046831)2.97432675
126centriole replication (GO:0007099)2.95027636
127protein complex biogenesis (GO:0070271)2.93944369
128inositol phosphate dephosphorylation (GO:0046855)2.93125388
129phosphorylated carbohydrate dephosphorylation (GO:0046838)2.93125388
130regulation of meiosis I (GO:0060631)2.93104488
131auditory receptor cell stereocilium organization (GO:0060088)2.92957986
132negative regulation of tumor necrosis factor production (GO:0032720)2.91438705
133mRNA polyadenylation (GO:0006378)2.91196622
134tachykinin receptor signaling pathway (GO:0007217)2.90461577
135alkaloid metabolic process (GO:0009820)2.90407968
136anatomical structure regression (GO:0060033)2.90142551
137resolution of meiotic recombination intermediates (GO:0000712)2.89011662
138male meiosis I (GO:0007141)2.86361897
139negative regulation of DNA-dependent DNA replication (GO:2000104)2.84937432
140cellular biogenic amine catabolic process (GO:0042402)2.83589456
141amine catabolic process (GO:0009310)2.83589456
142detection of light stimulus involved in visual perception (GO:0050908)2.79881117
143detection of light stimulus involved in sensory perception (GO:0050962)2.79881117
144ubiquinone biosynthetic process (GO:0006744)2.77589160
145protein polyglutamylation (GO:0018095)2.77378724
146prenylation (GO:0097354)2.76346135
147protein prenylation (GO:0018342)2.76346135
148methionine biosynthetic process (GO:0009086)2.76140099
149reflex (GO:0060004)2.75413996
150polyol catabolic process (GO:0046174)2.71821818
151mitochondrial respiratory chain complex assembly (GO:0033108)2.70859783
152protein localization to cilium (GO:0061512)2.65868701
153indole-containing compound metabolic process (GO:0042430)2.65572385
154mitochondrial respiratory chain complex I assembly (GO:0032981)2.64021913
155NADH dehydrogenase complex assembly (GO:0010257)2.64021913
156mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.64021913
157ubiquinone metabolic process (GO:0006743)2.62699665
158pseudouridine synthesis (GO:0001522)2.61108914
159intraciliary transport (GO:0042073)2.60851749
160NAD biosynthetic process (GO:0009435)2.60247995
161nonmotile primary cilium assembly (GO:0035058)2.59462477
162axoneme assembly (GO:0035082)2.57802493
163establishment of protein localization to Golgi (GO:0072600)2.56185801
164RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.55714958
165methionine metabolic process (GO:0006555)2.54268070
166cilium morphogenesis (GO:0060271)2.54127613
167positive regulation of protein homodimerization activity (GO:0090073)2.53361167
168benzene-containing compound metabolic process (GO:0042537)2.52725118
169sulfation (GO:0051923)2.51059116
170response to misfolded protein (GO:0051788)2.50901351
171DNA-dependent DNA replication (GO:0006261)2.50162979
172monoubiquitinated protein deubiquitination (GO:0035520)2.49596790
173behavioral response to nicotine (GO:0035095)2.49286146
174acrosome reaction (GO:0007340)2.48064570
175chromosome organization involved in meiosis (GO:0070192)2.47208498
176* double-strand break repair (GO:0006302)2.46344720
177mannosylation (GO:0097502)2.44847409
178cilium organization (GO:0044782)2.43940676
179ketone body metabolic process (GO:1902224)2.41904361
180cilium assembly (GO:0042384)2.41410157
181cellular ketone body metabolic process (GO:0046950)2.39802500
182protein K63-linked deubiquitination (GO:0070536)2.37895335
183cilium or flagellum-dependent cell motility (GO:0001539)2.36028955
184aromatic amino acid family catabolic process (GO:0009074)2.35910701
185mitochondrial DNA replication (GO:0006264)2.35549617
186regulation of sarcomere organization (GO:0060297)2.35363063
187response to pheromone (GO:0019236)2.35035612
188sperm motility (GO:0030317)2.34237108
189meiosis I (GO:0007127)2.32903019
190pyrimidine nucleobase catabolic process (GO:0006208)2.32791662
191postreplication repair (GO:0006301)2.32776767
192DNA replication-dependent nucleosome assembly (GO:0006335)2.31312268
193proline biosynthetic process (GO:0006561)11.0540545

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.83773758
2IGF1R_20145208_ChIP-Seq_DFB_Human3.45360423
3ZNF274_21170338_ChIP-Seq_K562_Hela3.20087502
4ZFP281_18358816_ChIP-ChIP_MESCs_Mouse3.16657489
5SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.14481074
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.14036773
7KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.88163788
8KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.88163788
9KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.88163788
10VDR_22108803_ChIP-Seq_LS180_Human2.79188093
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.76023551
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.60620715
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.60302866
14RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.59061469
15VDR_21846776_ChIP-Seq_THP-1_Human2.54965231
16SALL1_21062744_ChIP-ChIP_HESCs_Human2.53783841
17HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.48125421
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.40298339
19EWS_26573619_Chip-Seq_HEK293_Human2.38367630
20DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.36865381
21SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.36711224
22SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.34825030
23FUS_26573619_Chip-Seq_HEK293_Human2.33742528
24MYC_19079543_ChIP-ChIP_MESCs_Mouse2.30299279
25MYC_18358816_ChIP-ChIP_MESCs_Mouse2.24375485
26NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.24116978
27CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.22234377
28* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.18777307
29KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.18138428
30TAF15_26573619_Chip-Seq_HEK293_Human2.15848883
31NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.15520142
32E2F7_22180533_ChIP-Seq_HELA_Human2.14613446
33FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.13401614
34P300_19829295_ChIP-Seq_ESCs_Human2.12765518
35KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.09402865
36MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.02739476
37POU5F1_16518401_ChIP-PET_MESCs_Mouse2.01107157
38POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.00948410
39FLI1_27457419_Chip-Seq_LIVER_Mouse2.00879261
40GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98288788
41ER_23166858_ChIP-Seq_MCF-7_Human1.96714056
42LXR_22292898_ChIP-Seq_THP-1_Human1.96558065
43TCF3_18692474_ChIP-Seq_MESCs_Mouse1.93075654
44HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.92535859
45PU.1_20513432_ChIP-Seq_Bcells_Mouse1.87309603
46MYC_19030024_ChIP-ChIP_MESCs_Mouse1.86748223
47CTBP1_25329375_ChIP-Seq_LNCAP_Human1.86690702
48NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.85868659
49CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.83287906
50AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.82249502
51ERG_21242973_ChIP-ChIP_JURKAT_Human1.80388113
52STAT3_1855785_ChIP-Seq_MESCs_Mouse1.77656747
53JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.76787347
54* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76623793
55NANOG_21062744_ChIP-ChIP_HESCs_Human1.76505917
56TCF3_18692474_ChIP-Seq_MEFs_Mouse1.74820464
57SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.71325451
58FOXM1_23109430_ChIP-Seq_U2OS_Human1.68841292
59EZH2_22144423_ChIP-Seq_EOC_Human1.67920721
60MYC_22102868_ChIP-Seq_BL_Human1.67589996
61* SMAD4_21799915_ChIP-Seq_A2780_Human1.66268018
62* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.65843430
63EST1_17652178_ChIP-ChIP_JURKAT_Human1.65371010
64CBP_20019798_ChIP-Seq_JUKART_Human1.64612681
65IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.64612681
66BCAT_22108803_ChIP-Seq_LS180_Human1.62179439
67UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.61872390
68TET1_21451524_ChIP-Seq_MESCs_Mouse1.61787957
69STAT3_23295773_ChIP-Seq_U87_Human1.61310701
70GABP_17652178_ChIP-ChIP_JURKAT_Human1.61121711
71E2F1_18555785_ChIP-Seq_MESCs_Mouse1.60335767
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.56066089
73FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.54753581
74DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.54151991
75E2F4_17652178_ChIP-ChIP_JURKAT_Human1.53710122
76TCF4_23295773_ChIP-Seq_U87_Human1.50887858
77KLF4_18555785_ChIP-Seq_MESCs_Mouse1.50562525
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.47882376
79CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.47525652
80YY1_21170310_ChIP-Seq_MESCs_Mouse1.46835868
81ELK1_19687146_ChIP-ChIP_HELA_Human1.46725234
82ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.46505480
83PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45760791
84ESR1_15608294_ChIP-ChIP_MCF-7_Human1.45487479
85NANOG_18555785_ChIP-Seq_MESCs_Mouse1.45416014
86AR_25329375_ChIP-Seq_VCAP_Human1.44990564
87PCGF2_27294783_Chip-Seq_ESCs_Mouse1.44195629
88EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.43156134
89CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.42678384
90SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41545368
91PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.41167265
92SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40910579
93NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.40655046
94RACK7_27058665_Chip-Seq_MCF-7_Human1.40520648
95CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.40474461
96BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.40095088
97E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.39206289
98MYC_18940864_ChIP-ChIP_HL60_Human1.38308793
99PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37717443
100IRF1_19129219_ChIP-ChIP_H3396_Human1.37467800
101ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.37179240
102EZH2_27294783_Chip-Seq_NPCs_Mouse1.37073893
103ZFP281_18757296_ChIP-ChIP_E14_Mouse1.36707448
104RXRA_24833708_ChIP-Seq_LIVER_Mouse1.35153106
105POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.35105578
106* ETS1_20019798_ChIP-Seq_JURKAT_Human1.34875368
107EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.34435454
108VDR_23849224_ChIP-Seq_CD4+_Human1.34253309
109TP53_22573176_ChIP-Seq_HFKS_Human1.33971910
110SMAD3_21741376_ChIP-Seq_EPCs_Human1.33753944
111MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33497610
112POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32605446
113RARB_24833708_ChIP-Seq_LIVER_Mouse1.31114450
114KLF5_20875108_ChIP-Seq_MESCs_Mouse1.30910568
115GABP_19822575_ChIP-Seq_HepG2_Human1.30672222
116MYCN_18555785_ChIP-Seq_MESCs_Mouse1.29824494
117NR3C1_21868756_ChIP-Seq_MCF10A_Human1.29693389
118TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28764383
119ETS1_21867929_ChIP-Seq_TH2_Mouse1.28298241
120TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27446129
121NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.27412379
122ZFP281_27345836_Chip-Seq_ESCs_Mouse1.26926513
123CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.25480232
124TCF4_22108803_ChIP-Seq_LS180_Human1.25474764
125SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24967698
126POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.24539284
127* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23190148
128SOX2_18692474_ChIP-Seq_MEFs_Mouse1.22782234
129NOTCH1_21737748_ChIP-Seq_TLL_Human1.22362801
130OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21362002
131NELFA_20434984_ChIP-Seq_ESCs_Mouse1.21270780
132POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20888385
133TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20888385
134SOX2_18692474_ChIP-Seq_MESCs_Mouse1.20598935
135CTCF_21964334_ChIP-Seq_BJAB-B_Human1.20375294
136SOX2_19829295_ChIP-Seq_ESCs_Human1.20142910
137NANOG_19829295_ChIP-Seq_ESCs_Human1.20142910
138CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.20072666
139* RUNX2_22187159_ChIP-Seq_PCA_Human1.19997674
140NANOG_18692474_ChIP-Seq_MESCs_Mouse1.19398860
141SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19323179
142HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.18684413
143FOXA1_21572438_ChIP-Seq_LNCaP_Human1.18417590
144AR_21572438_ChIP-Seq_LNCaP_Human1.17608103
145DCP1A_22483619_ChIP-Seq_HELA_Human1.16966049
146NFE2_27457419_Chip-Seq_LIVER_Mouse1.16711386
147OCT4_18692474_ChIP-Seq_MEFs_Mouse1.16341786
148SPI1_26923725_Chip-Seq_HPCs_Mouse1.15715694
149SOX2_18555785_ChIP-Seq_MESCs_Mouse1.15629817
150XRN2_22483619_ChIP-Seq_HELA_Human1.15062001
151RARA_24833708_ChIP-Seq_LIVER_Mouse1.14597717
152RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.14051203
153PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14032979
154TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13807025
155KDM2B_26808549_Chip-Seq_SUP-B15_Human1.13629906
156ZNF263_19887448_ChIP-Seq_K562_Human1.13288367
157KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.13221965
158KDM5A_27292631_Chip-Seq_BREAST_Human1.13165881
159NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.12713738
160NANOG_18555785_Chip-Seq_ESCs_Mouse1.12457441
161FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.11818261
162TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.11702399
163FLI1_21867929_ChIP-Seq_TH2_Mouse1.11686837
164KDM2B_26808549_Chip-Seq_DND41_Human1.11557707
165GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.10221402
166ZFX_18555785_ChIP-Seq_MESCs_Mouse1.09936933
167KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.09913239
168ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.09758299
169FOXP3_21729870_ChIP-Seq_TREG_Human1.08920037
170SMAD4_21741376_ChIP-Seq_EPCs_Human1.08158724
171SRY_22984422_ChIP-ChIP_TESTIS_Rat1.08043541
172EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.07933278
173* CDX2_22108803_ChIP-Seq_LS180_Human1.07700158
174STAT1_20625510_ChIP-Seq_HELA_Human1.07524492
175CRX_20693478_ChIP-Seq_RETINA_Mouse1.07153987
176CTCF_27219007_Chip-Seq_ERYTHROID_Human1.06369245
177ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.06230113
178TTF2_22483619_ChIP-Seq_HELA_Human1.06212524
179RNF2_27304074_Chip-Seq_NSC_Mouse1.06076066
180CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.06021306
181MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.05474362
182* SRF_21415370_ChIP-Seq_HL-1_Mouse1.05005656
183PHF8_20622854_ChIP-Seq_HELA_Human1.04835681
184CDX2_19796622_ChIP-Seq_MESCs_Mouse1.04631106
185PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.04485379
186NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.03074564
187P53_22387025_ChIP-Seq_ESCs_Mouse1.02955013
188GATA1_22383799_ChIP-Seq_G1ME_Mouse1.01341907
189FOXA1_25329375_ChIP-Seq_VCAP_Human1.01077007
190FOXA1_27270436_Chip-Seq_PROSTATE_Human1.01077007
191BCOR_27268052_Chip-Seq_Bcells_Human1.01055151
192PRDM14_20953172_ChIP-Seq_ESCs_Human1.00668202
193ELF1_17652178_ChIP-ChIP_JURKAT_Human1.00139053
194E2F1_18555785_Chip-Seq_ESCs_Mouse0.98976633
195POU5F1_16153702_ChIP-ChIP_HESCs_Human0.98036161
196STAT3_18555785_Chip-Seq_ESCs_Mouse0.95667857
197* TAL1_26923725_Chip-Seq_HPCs_Mouse0.94786484

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication6.01946655
2MP0009278_abnormal_bone_marrow4.61287555
3MP0005171_absent_coat_pigmentation4.43896346
4MP0010030_abnormal_orbit_morphology3.98196521
5MP0004233_abnormal_muscle_weight3.57378795
6MP0002009_preneoplasia2.85306617
7MP0008995_early_reproductive_senescence2.77503471
8MP0000372_irregular_coat_pigmentation2.65314566
9MP0005397_hematopoietic_system_phenotyp2.60018197
10MP0001545_abnormal_hematopoietic_system2.60018197
11MP0010094_abnormal_chromosome_stability2.59718367
12MP0003890_abnormal_embryonic-extraembry2.49647473
13MP0008877_abnormal_DNA_methylation2.47150401
14MP0005174_abnormal_tail_pigmentation2.45028144
15MP0003646_muscle_fatigue2.39171033
16MP0005253_abnormal_eye_physiology2.19149956
17MP0005551_abnormal_eye_electrophysiolog2.15291039
18MP0005646_abnormal_pituitary_gland2.14863331
19MP0002736_abnormal_nociception_after2.14601270
20MP0002102_abnormal_ear_morphology2.13581947
21MP0001984_abnormal_olfaction2.11244976
22MP0003786_premature_aging2.09490193
23MP0002653_abnormal_ependyma_morphology2.07468432
24MP0002249_abnormal_larynx_morphology2.01518585
25MP0004133_heterotaxia2.00366708
26MP0001968_abnormal_touch/_nociception2.00224554
27MP0009046_muscle_twitch1.97985010
28MP0003283_abnormal_digestive_organ1.97782909
29MP0003119_abnormal_digestive_system1.97171412
30MP0004957_abnormal_blastocyst_morpholog1.97095781
31MP0002837_dystrophic_cardiac_calcinosis1.92747544
32MP0006072_abnormal_retinal_apoptosis1.92601044
33MP0003787_abnormal_imprinting1.90701725
34MP0006276_abnormal_autonomic_nervous1.84656204
35MP0003136_yellow_coat_color1.79639582
36MP0009697_abnormal_copulation1.78918621
37MP0004147_increased_porphyrin_level1.78397304
38MP0005085_abnormal_gallbladder_physiolo1.78119835
39MP0002282_abnormal_trachea_morphology1.77304739
40MP0008058_abnormal_DNA_repair1.71114524
41MP0006292_abnormal_olfactory_placode1.69988282
42MP0002638_abnormal_pupillary_reflex1.69906280
43MP0003453_abnormal_keratinocyte_physiol1.67236185
44MP0000579_abnormal_nail_morphology1.66062293
45MP0002160_abnormal_reproductive_system1.63754838
46MP0005075_abnormal_melanosome_morpholog1.62598170
47MP0000569_abnormal_digit_pigmentation1.62065937
48MP0000015_abnormal_ear_pigmentation1.61754498
49MP0003195_calcinosis1.60040416
50MP0002086_abnormal_extraembryonic_tissu1.58758674
51MP0001697_abnormal_embryo_size1.57924292
52MP0001293_anophthalmia1.56672897
53MP0002084_abnormal_developmental_patter1.52044874
54MP0001929_abnormal_gametogenesis1.50671252
55MP0008932_abnormal_embryonic_tissue1.50122555
56MP0003567_abnormal_fetal_cardiomyocyte1.49062085
57MP0004197_abnormal_fetal_growth/weight/1.49010518
58MP0003111_abnormal_nucleus_morphology1.48070937
59MP0003172_abnormal_lysosome_physiology1.46887839
60MP0005365_abnormal_bile_salt1.45678796
61MP0005076_abnormal_cell_differentiation1.45642213
62MP0005410_abnormal_fertilization1.43380809
63MP0000639_abnormal_adrenal_gland1.42392527
64MP0010386_abnormal_urinary_bladder1.41914349
65MP0000371_diluted_coat_color1.40740329
66MP0000490_abnormal_crypts_of1.39944761
67MP0003698_abnormal_male_reproductive1.39166895
68MP0001764_abnormal_homeostasis1.37186518
69MP0004215_abnormal_myocardial_fiber1.36460420
70MP0008875_abnormal_xenobiotic_pharmacok1.36289383
71MP0002085_abnormal_embryonic_tissue1.34364239
72MP0000427_abnormal_hair_cycle1.33229581
73MP0004043_abnormal_pH_regulation1.32325896
74MP0002269_muscular_atrophy1.31369923
75MP0010352_gastrointestinal_tract_polyps1.30803237
76MP0002210_abnormal_sex_determination1.29635168
77MP0005389_reproductive_system_phenotype1.27185657
78MP0000470_abnormal_stomach_morphology1.26706062
79MP0003077_abnormal_cell_cycle1.26667812
80MP0000631_abnormal_neuroendocrine_gland1.24048415
81MP0008872_abnormal_physiological_respon1.22945530
82MP0000653_abnormal_sex_gland1.22703727
83MP0002272_abnormal_nervous_system1.19854270
84MP0006036_abnormal_mitochondrial_physio1.19397680
85MP0003121_genomic_imprinting1.17519018
86MP0001730_embryonic_growth_arrest1.17038929
87MP0005058_abnormal_lysosome_morphology1.16728082
88MP0001340_abnormal_eyelid_morphology1.16384033
89MP0004145_abnormal_muscle_electrophysio1.15884307
90MP0002938_white_spotting1.15437450
91MP0005647_abnormal_sex_gland1.13991007
92MP0002019_abnormal_tumor_incidence1.13015486
93MP0002735_abnormal_chemical_nociception1.12472836
94MP0003693_abnormal_embryo_hatching1.11911893
95MP0001672_abnormal_embryogenesis/_devel1.09839893
96MP0005380_embryogenesis_phenotype1.09839893
97MP0009745_abnormal_behavioral_response1.08720902
98MP0000462_abnormal_digestive_system1.08277047
99MP0001486_abnormal_startle_reflex1.06520224
100MP0002111_abnormal_tail_morphology1.05481149
101MP0000685_abnormal_immune_system1.04638166
102MP0001501_abnormal_sleep_pattern1.03531720
103MP0004142_abnormal_muscle_tone1.03098115
104MP0001485_abnormal_pinna_reflex1.03068446
105MP0003880_abnormal_central_pattern1.02004413
106MP0005084_abnormal_gallbladder_morpholo1.00357877
107MP0002095_abnormal_skin_pigmentation0.99465598
108MP0002796_impaired_skin_barrier0.99274425
109MP0006035_abnormal_mitochondrial_morpho0.98490485
110MP0002932_abnormal_joint_morphology0.97479507
111MP0000762_abnormal_tongue_morphology0.96463127
112MP0008789_abnormal_olfactory_epithelium0.96444036
113MP0000350_abnormal_cell_proliferation0.96288718
114MP0005386_behavior/neurological_phenoty0.95549107
115MP0004924_abnormal_behavior0.95549107
116MP0003718_maternal_effect0.95361688
117MP0002080_prenatal_lethality0.94577476
118MP0002075_abnormal_coat/hair_pigmentati0.94175877
119MP0009053_abnormal_anal_canal0.94030066
120MP0005266_abnormal_metabolism0.93429589
121MP0005395_other_phenotype0.93237103
122MP0004264_abnormal_extraembryonic_tissu0.93072239
123MP0002114_abnormal_axial_skeleton0.92978898
124MP0002067_abnormal_sensory_capabilities0.92070117
125MP0003828_pulmonary_edema0.91420647
126MP0000230_abnormal_systemic_arterial0.91116456
127MP0005367_renal/urinary_system_phenotyp0.90381471
128MP0000516_abnormal_urinary_system0.90381471
129MP0005220_abnormal_exocrine_pancreas0.89337463
130MP0001529_abnormal_vocalization0.87827928
131MP0003656_abnormal_erythrocyte_physiolo0.86961497
132MP0008007_abnormal_cellular_replicative0.86256213
133MP0009115_abnormal_fat_cell0.85327926
134MP0005391_vision/eye_phenotype0.84948863
135MP0003755_abnormal_palate_morphology0.83746914
136MP0003137_abnormal_impulse_conducting0.83400707
137MP0003937_abnormal_limbs/digits/tail_de0.81581944
138MP0001186_pigmentation_phenotype0.80857867
139MP0004085_abnormal_heartbeat0.80494223
140MP0002229_neurodegeneration0.79514736
141MP0001119_abnormal_female_reproductive0.79328192
142MP0003984_embryonic_growth_retardation0.78637027
143MP0002060_abnormal_skin_morphology0.77979721
144MP0000383_abnormal_hair_follicle0.77869858
145MP0002557_abnormal_social/conspecific_i0.77851755
146MP0003806_abnormal_nucleotide_metabolis0.77696348
147MP0001324_abnormal_eye_pigmentation0.77575356
148MP0005670_abnormal_white_adipose0.77448153
149MP0001986_abnormal_taste_sensitivity0.76691787
150MP0003935_abnormal_craniofacial_develop0.75224853
151MP0005645_abnormal_hypothalamus_physiol0.75082417
152MP0002822_catalepsy0.74861315
153MP0004019_abnormal_vitamin_homeostasis0.74739584
154MP0004084_abnormal_cardiac_muscle0.74134709
155MP0002332_abnormal_exercise_endurance0.73919725
156MP0002572_abnormal_emotion/affect_behav0.73538867
157MP0002088_abnormal_embryonic_growth/wei0.73379934
158MP0005195_abnormal_posterior_eye0.72602882
159MP0002064_seizures0.71623640
160MP0003705_abnormal_hypodermis_morpholog0.71062538
161MP0010307_abnormal_tumor_latency0.69930332
162MP0006054_spinal_hemorrhage0.69877846
163MP0001905_abnormal_dopamine_level0.69425236
164MP0001919_abnormal_reproductive_system0.69258920
165MP0002405_respiratory_system_inflammati0.68556298
166MP0001145_abnormal_male_reproductive0.66059563
167MP0000313_abnormal_cell_death0.65458178
168MP0002116_abnormal_craniofacial_bone0.63889444
169MP0002396_abnormal_hematopoietic_system0.63410491
170MP0010630_abnormal_cardiac_muscle0.62735256
171MP0000689_abnormal_spleen_morphology0.62680513
172MP0000467_abnormal_esophagus_morphology0.61738029
173MP0000477_abnormal_intestine_morphology0.61681041
174MP0005501_abnormal_skin_physiology0.61234969
175MP0003638_abnormal_response/metabolism_0.60196205
176MP0003943_abnormal_hepatobiliary_system0.59425403
177MP0002751_abnormal_autonomic_nervous0.59004475

Predicted human phenotypes

RankGene SetZ-score
1Rib fusion (HP:0000902)5.30959305
2Pustule (HP:0200039)5.24515169
3Annular pancreas (HP:0001734)5.18188158
4Facial hemangioma (HP:0000329)5.15643126
5Concave nail (HP:0001598)5.13675744
6Rectal fistula (HP:0100590)4.88405442
7Rectovaginal fistula (HP:0000143)4.88405442
8Turricephaly (HP:0000262)4.64358653
9Poikiloderma (HP:0001029)4.58967309
10Increased IgM level (HP:0003496)4.48964247
11Hypochromic microcytic anemia (HP:0004840)4.45111543
12Alopecia of scalp (HP:0002293)4.41685735
13Vaginal fistula (HP:0004320)4.41077364
14Intestinal fistula (HP:0100819)4.35644460
15Aplasia/Hypoplasia involving the carpal bones (HP:0006502)4.23344076
16Abnormal hemoglobin (HP:0011902)4.22254951
17Ulnar bowing (HP:0003031)4.10823704
18Coronal craniosynostosis (HP:0004440)4.09703338
19Tongue fasciculations (HP:0001308)3.88650544
20Male infertility (HP:0003251)3.87707781
21Intestinal atresia (HP:0011100)3.81613752
22Pancreatic cysts (HP:0001737)3.78920670
23Pancreatic fibrosis (HP:0100732)3.56953573
24Short humerus (HP:0005792)3.55376620
25Muscle fibrillation (HP:0010546)3.52427522
26Abnormality of male internal genitalia (HP:0000022)3.51936974
27Aplasia/hypoplasia of the humerus (HP:0006507)3.49388289
28Orthostatic hypotension (HP:0001278)3.47169571
29Squamous cell carcinoma (HP:0002860)3.44609681
30Vertebral hypoplasia (HP:0008417)3.36789856
31Aplasia/Hypoplasia of the vertebrae (HP:0008515)3.36789856
32Congenital hip dislocation (HP:0001374)3.31731148
33True hermaphroditism (HP:0010459)3.30780258
34Abnormality of the aortic arch (HP:0012303)3.27662537
35Anteriorly placed anus (HP:0001545)3.27462324
36Basal cell carcinoma (HP:0002671)3.25140050
37Short chin (HP:0000331)3.20236226
38Abnormality of midbrain morphology (HP:0002418)3.17485326
39Molar tooth sign on MRI (HP:0002419)3.17485326
40Absent radius (HP:0003974)3.16125721
41Broad alveolar ridges (HP:0000187)3.13969848
42Premature skin wrinkling (HP:0100678)3.03453735
43Mucopolysacchariduria (HP:0008155)3.01921713
44Urinary glycosaminoglycan excretion (HP:0003541)3.01921713
45Nephronophthisis (HP:0000090)3.01269734
46Volvulus (HP:0002580)3.00070377
47Chromsome breakage (HP:0040012)2.97089611
48Albinism (HP:0001022)2.96192290
49Congenital stationary night blindness (HP:0007642)2.95794177
50Alacrima (HP:0000522)2.94974896
51Absent forearm bone (HP:0003953)2.94180971
52Aplasia involving forearm bones (HP:0009822)2.94180971
53Hyperventilation (HP:0002883)2.93341461
54Pancreatic islet-cell hyperplasia (HP:0004510)2.93272241
55Abnormality of the renal cortex (HP:0011035)2.92303610
56Dysautonomia (HP:0002459)2.90292877
57Aplasia/Hypoplasia of the uvula (HP:0010293)2.90135141
58Chronic hepatic failure (HP:0100626)2.85066316
59Absent thumb (HP:0009777)2.79965557
60Selective tooth agenesis (HP:0001592)2.78060988
61Premature graying of hair (HP:0002216)2.77258339
62Hypotrichosis (HP:0001006)2.75080759
63Large for gestational age (HP:0001520)2.73807468
64Chromosomal breakage induced by crosslinking agents (HP:0003221)2.73641800
65Growth hormone excess (HP:0000845)2.73576700
66Abnormality of the renal medulla (HP:0100957)2.72965127
67Capillary hemangiomas (HP:0005306)2.70140816
68Diaphragmatic weakness (HP:0009113)2.69776858
69Hyperglycinemia (HP:0002154)2.68892082
70Abnormality of polysaccharide metabolism (HP:0011012)2.68282779
71Abnormality of glycosaminoglycan metabolism (HP:0004371)2.68282779
72Abnormality of mucopolysaccharide metabolism (HP:0011020)2.68282779
73Hepatocellular necrosis (HP:0001404)2.67121330
74Hypokinesia (HP:0002375)2.66704740
75Medial flaring of the eyebrow (HP:0010747)2.65875187
76Gaze-evoked nystagmus (HP:0000640)2.64904750
77Acute lymphatic leukemia (HP:0006721)2.64028250
78Muscle fiber atrophy (HP:0100295)2.63009059
79Aplasia of the musculature (HP:0100854)2.61600076
80Bifid uvula (HP:0000193)2.61530210
81Type 2 muscle fiber atrophy (HP:0003554)2.59176125
82Attenuation of retinal blood vessels (HP:0007843)2.57058138
83Hamartoma (HP:0010566)2.56867777
84Dysostosis multiplex (HP:0000943)2.53691222
85Renal cortical cysts (HP:0000803)2.53547331
86Choanal stenosis (HP:0000452)2.53033887
87Abnormality of chromosome stability (HP:0003220)2.52632141
88Bile duct proliferation (HP:0001408)2.50820179
89Abnormal biliary tract physiology (HP:0012439)2.50820179
90Joint stiffness (HP:0001387)2.50543210
91Hepatic necrosis (HP:0002605)2.49375878
92Patellar aplasia (HP:0006443)2.49209892
93Bulbar palsy (HP:0001283)2.48956899
94Hypochromic anemia (HP:0001931)2.48388613
95Congenital sensorineural hearing impairment (HP:0008527)2.48171425
96Polycythemia (HP:0001901)2.45906995
97Aplasia/Hypoplasia of the tibia (HP:0005772)2.45655605
98Clumsiness (HP:0002312)2.43625548
99Hypotelorism (HP:0000601)2.41587842
100Increased CSF lactate (HP:0002490)2.40198105
101Abnormality of the ileum (HP:0001549)2.38822821
102Cystic liver disease (HP:0006706)2.37106417
103Increased number of teeth (HP:0011069)2.35833243
104Colon cancer (HP:0003003)2.35388242
105Abnormality of placental membranes (HP:0011409)2.32662324
106Amniotic constriction ring (HP:0009775)2.32662324
107Meckel diverticulum (HP:0002245)2.32268505
108IgA deficiency (HP:0002720)2.29982178
109Bowed forearm bones (HP:0003956)2.28801772
110Bowing of the arm (HP:0006488)2.28801772
111Small hand (HP:0200055)2.27791240
112Aplasia/Hypoplasia of the patella (HP:0006498)2.27592880
113Tubulointerstitial nephritis (HP:0001970)2.25772125
114Congenital primary aphakia (HP:0007707)2.25721674
115Mitochondrial inheritance (HP:0001427)2.23848794
116Abolished electroretinogram (ERG) (HP:0000550)2.23671115
117Gait imbalance (HP:0002141)2.22435371
118Genetic anticipation (HP:0003743)2.21234990
119Amelogenesis imperfecta (HP:0000705)2.19342133
120Decreased lacrimation (HP:0000633)2.19120586
121Asymmetric septal hypertrophy (HP:0001670)2.17317856
122Popliteal pterygium (HP:0009756)2.14455005
123Lower limb hyperreflexia (HP:0002395)2.13566488
124Split hand (HP:0001171)2.12963262
125Methylmalonic acidemia (HP:0002912)2.12737008
126Hypoplasia of the radius (HP:0002984)2.12383963
127Aplasia/Hypoplasia of the tongue (HP:0010295)2.12123124
128Gastrointestinal atresia (HP:0002589)2.11643139
129Exertional dyspnea (HP:0002875)2.11421192
130Median cleft lip (HP:0000161)2.11188967
131Abnormality of the labia minora (HP:0012880)2.10630118
132Progressive cerebellar ataxia (HP:0002073)2.09852642
133Acute necrotizing encephalopathy (HP:0006965)2.07945205
134Sloping forehead (HP:0000340)2.07839764
135Bony spicule pigmentary retinopathy (HP:0007737)2.07549037
136Narrow nasal bridge (HP:0000446)2.07547088
137Vertebral fusion (HP:0002948)2.07240608
138Acute encephalopathy (HP:0006846)2.06946223
139Abnormal glycosylation (HP:0012345)2.06672232
140Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.06672232
141Abnormal protein N-linked glycosylation (HP:0012347)2.06672232
142Abnormal protein glycosylation (HP:0012346)2.06672232
143Redundant skin (HP:0001582)2.05971641
144Abnormal rod and cone electroretinograms (HP:0008323)2.05595699
145CNS demyelination (HP:0007305)2.05098610
146Progressive macrocephaly (HP:0004481)2.04875767
147Hypoplasia of the ulna (HP:0003022)2.04229160
148Nephrogenic diabetes insipidus (HP:0009806)2.03203006
149Absent rod-and cone-mediated responses on ERG (HP:0007688)2.03016226
150Abnormal drinking behavior (HP:0030082)2.02449218
151Polydipsia (HP:0001959)2.02449218
152Abnormality of alanine metabolism (HP:0010916)2.01723223
153Hyperalaninemia (HP:0003348)2.01723223
154Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.01723223
155Supernumerary spleens (HP:0009799)2.01110501
156Short 5th finger (HP:0009237)2.01035246
157Congenital hepatic fibrosis (HP:0002612)1.98722389
158Astigmatism (HP:0000483)1.98622164
159Abnormality of the preputium (HP:0100587)1.98295754
160Type I transferrin isoform profile (HP:0003642)1.97412536
161Genital tract atresia (HP:0001827)1.97139698
162Hypercortisolism (HP:0001578)1.92737517
163Sclerocornea (HP:0000647)1.91299941
164Male pseudohermaphroditism (HP:0000037)1.91236357
165Thyroiditis (HP:0100646)1.90599495
166Type II lissencephaly (HP:0007260)1.90467965
167Decreased central vision (HP:0007663)1.89655085
168Generalized amyotrophy (HP:0003700)1.89567815
169Hyperglycinuria (HP:0003108)1.89199198
1703-Methylglutaconic aciduria (HP:0003535)1.88655730
171Abnormal number of incisors (HP:0011064)1.87940628
172Abnormality of the astrocytes (HP:0100707)1.86362035
173Clubbing of toes (HP:0100760)1.86210783
174Postaxial foot polydactyly (HP:0001830)1.85745404
175Progressive inability to walk (HP:0002505)1.85674361
176Abnormality of glycine metabolism (HP:0010895)1.85393324
177Abnormality of serine family amino acid metabolism (HP:0010894)1.85393324
178Methylmalonic aciduria (HP:0012120)1.84846458
179Vaginal atresia (HP:0000148)1.83343981
180Neoplasm of the adrenal cortex (HP:0100641)1.82435487
181Abnormal mitochondria in muscle tissue (HP:0008316)1.82060160
182Febrile seizures (HP:0002373)1.81323071
183Increased serum lactate (HP:0002151)1.80794892
184Focal motor seizures (HP:0011153)1.80122196
185Gonadotropin excess (HP:0000837)1.79442548
186Inability to walk (HP:0002540)1.78901648
187Tubulointerstitial abnormality (HP:0001969)1.76334196
188Dyschromatopsia (HP:0007641)1.75935583
189Ketosis (HP:0001946)1.75151639
190Preaxial hand polydactyly (HP:0001177)1.74308033
191Short tibia (HP:0005736)1.73826928
192Central scotoma (HP:0000603)1.72829283
193Anencephaly (HP:0002323)1.72099226
194Protruding tongue (HP:0010808)1.71957826
195Hypoplasia of the fovea (HP:0007750)1.71288077
196Aplasia/Hypoplasia of the fovea (HP:0008060)1.71288077
197Aganglionic megacolon (HP:0002251)1.70670429

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.74871924
2ICK6.17906918
3MAP3K65.08363017
4MAPK155.07534628
5DDR24.83204702
6MAP3K113.46839089
7PINK13.43030421
8MATK3.09083257
9FGR3.03438091
10MAP4K23.00452114
11TYRO32.89462353
12DAPK12.69691456
13BMPR1B2.55323800
14EIF2AK32.54389507
15UHMK12.53883913
16ZAK2.52613442
17NUAK12.51889970
18WNK32.45519594
19PIM22.31861804
20CSK2.15840599
21ACVR1B2.13109990
22BMX2.12498473
23DYRK1B2.01160052
24PRKD22.01053609
25YES11.96816354
26MAP3K41.87581654
27PDGFRA1.83400369
28MAPK131.75753269
29TRIM281.75404169
30CDK71.73924792
31MKNK21.58992788
32GRK11.54523739
33AKT31.52975107
34MAP2K71.51199404
35TRPM71.51181181
36CSNK1G31.47702778
37LATS21.46027094
38CSNK1G21.45405409
39PLK41.44298973
40CDK61.39654306
41MAPK111.38932499
42CSNK1A1L1.38644631
43INSRR1.38254726
44VRK11.30578329
45ADRBK21.29601933
46DYRK31.29523179
47EIF2AK11.29522141
48CCNB11.27540752
49MUSK1.25971495
50TEC1.25745079
51TAOK31.25515937
52PIM11.24936210
53OBSCN1.23959042
54RPS6KC11.20378732
55RPS6KL11.20378732
56MKNK11.18717176
57CDC42BPA1.18041707
58TNIK1.15583967
59OXSR11.11778274
60BCR1.09561555
61PAK31.07558225
62FGFR21.06077359
63PLK31.05652706
64MST41.04638913
65RPS6KA61.02621999
66PHKG21.02574541
67PHKG11.02574541
68BRSK21.00840662
69TAOK20.99156980
70CHEK20.98554911
71GSK3A0.96950157
72STK390.96629789
73CASK0.93802721
74PLK20.93650147
75TIE10.92855284
76PRPF4B0.89748518
77LATS10.87748593
78PBK0.85815130
79PLK10.84055520
80TXK0.79473950
81NTRK30.79292851
82PIK3CG0.78652205
83PRKCE0.78290937
84FER0.76636541
85CDK30.75767517
86MARK30.75176333
87VRK20.74469861
88RAF10.70258629
89HIPK20.67487204
90BUB10.64584316
91RPS6KA10.63457992
92TAF10.62960593
93MAP3K100.60001452
94PRKAA10.59752645
95ATR0.59218123
96CDK80.59044208
97PDK20.58806594
98EIF2AK20.57458753
99CSNK2A10.50223645
100MTOR0.49605167
101TNK20.49516153
102ERBB30.49290029
103ADRBK10.49108018
104CSNK1D0.48937863
105PIK3CA0.48755833
106RPS6KA50.46961694
107EGFR0.46854934
108AURKA0.46500052
109TGFBR10.45141092
110MARK10.45127542
111GRK50.44550445
112SRPK10.43610609
113RPS6KA40.43569272
114CDK20.42857033
115PKN10.42331551
116LYN0.42052527
117MAP3K90.42046024
118NLK0.41533748
119RPS6KB20.41483083
120DYRK20.40717611
121FLT30.40695451
122PRKCG0.40393790
123CAMK2G0.40330420
124RPS6KB10.40134803
125CSNK2A20.39844597
126CAMK2B0.37291695
127MAPK40.36927083
128CSNK1A10.36310900
129CSNK1G10.35774123
130TRIB30.35589620
131PRKACA0.34936413
132MAPKAPK50.34613992
133NME10.34490306
134STK160.33378215
135TTK0.32202132
136TAOK10.31844496
137PRKACB0.31702040
138MAPKAPK30.31653934
139ITK0.31634613
140CDC70.30771573
141PRKCQ0.30202677
142MAPK10.29767577
143MAPK30.29750060
144PRKG10.29191253
145STK380.28498148
146WEE10.28189992
147NEK20.27584651
148SIK20.27454642
149ATM0.27431247
150AURKB0.26876484
151CDK40.26488413
152BRSK10.25586692
153MAPK140.24903225
154CHEK10.24533052
155CAMK2A0.24174466
156MELK0.23554472
157MAPK100.23522138
158PDGFRB0.21454683
159MAPKAPK20.21346179
160PRKAA20.21098921
161STK38L0.21081102
162CDK10.19689077
163RIPK10.18886853
164CDK11A0.17755600
165CDK120.17250761
166BCKDK0.16074524
167INSR0.15942256
168CAMK2D0.15090510
169PRKCZ0.14893985
170CDK150.14846594
171NEK10.14228767
172STK30.13932731
173FGFR10.13743083
174PRKCD0.13605237
175PAK10.13186313

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000615.41547890
2Mismatch repair_Homo sapiens_hsa034305.08181955
3Base excision repair_Homo sapiens_hsa034105.05533094
4DNA replication_Homo sapiens_hsa030303.86244790
5Caffeine metabolism_Homo sapiens_hsa002322.95475134
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.66752245
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.63057424
8Non-homologous end-joining_Homo sapiens_hsa034502.59361191
9Propanoate metabolism_Homo sapiens_hsa006402.48063337
10Butanoate metabolism_Homo sapiens_hsa006502.46275331
11Nucleotide excision repair_Homo sapiens_hsa034202.32505944
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.31062764
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.21826824
14Spliceosome_Homo sapiens_hsa030402.15412099
15Circadian rhythm_Homo sapiens_hsa047102.14688280
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.08483459
17Phototransduction_Homo sapiens_hsa047442.00774819
18Biosynthesis of amino acids_Homo sapiens_hsa012301.97710289
19Arginine and proline metabolism_Homo sapiens_hsa003301.92539316
20Homologous recombination_Homo sapiens_hsa034401.90932053
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.90457334
22RNA transport_Homo sapiens_hsa030131.90127527
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.86552131
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.86533973
25Tryptophan metabolism_Homo sapiens_hsa003801.85783870
26Sulfur relay system_Homo sapiens_hsa041221.83039169
27mTOR signaling pathway_Homo sapiens_hsa041501.80641175
28Hippo signaling pathway_Homo sapiens_hsa043901.72564389
29alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.69845316
30mRNA surveillance pathway_Homo sapiens_hsa030151.69650947
31Notch signaling pathway_Homo sapiens_hsa043301.69364285
32Hedgehog signaling pathway_Homo sapiens_hsa043401.67262985
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.61942704
34Fanconi anemia pathway_Homo sapiens_hsa034601.60719416
35Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.60117442
36Folate biosynthesis_Homo sapiens_hsa007901.53638361
37Linoleic acid metabolism_Homo sapiens_hsa005911.52939691
38Fatty acid metabolism_Homo sapiens_hsa012121.52076533
39Cell cycle_Homo sapiens_hsa041101.42986976
40p53 signaling pathway_Homo sapiens_hsa041151.42887157
41Ribosome_Homo sapiens_hsa030101.40386883
42Adherens junction_Homo sapiens_hsa045201.37884032
43TGF-beta signaling pathway_Homo sapiens_hsa043501.33741345
44Bladder cancer_Homo sapiens_hsa052191.32448312
45Nitrogen metabolism_Homo sapiens_hsa009101.31598608
46Olfactory transduction_Homo sapiens_hsa047401.31582018
47Protein export_Homo sapiens_hsa030601.27105238
48Peroxisome_Homo sapiens_hsa041461.26263989
49Fructose and mannose metabolism_Homo sapiens_hsa000511.25907574
50Longevity regulating pathway - mammal_Homo sapiens_hsa042111.25563349
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.24499880
52Pentose and glucuronate interconversions_Homo sapiens_hsa000401.24236337
53Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.21269782
54Purine metabolism_Homo sapiens_hsa002301.20952383
55Transcriptional misregulation in cancer_Homo sapiens_hsa052021.20598966
56Ether lipid metabolism_Homo sapiens_hsa005651.20389083
57Nicotine addiction_Homo sapiens_hsa050331.16469365
58Arginine biosynthesis_Homo sapiens_hsa002201.14910614
59Steroid hormone biosynthesis_Homo sapiens_hsa001401.12888006
60beta-Alanine metabolism_Homo sapiens_hsa004101.09624532
61Wnt signaling pathway_Homo sapiens_hsa043101.05575722
62Oxidative phosphorylation_Homo sapiens_hsa001901.04499495
63Fatty acid degradation_Homo sapiens_hsa000711.04130712
64Shigellosis_Homo sapiens_hsa051311.02519079
65Chemical carcinogenesis_Homo sapiens_hsa052041.02052268
66Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.01290461
67Parkinsons disease_Homo sapiens_hsa050120.98627688
68Taste transduction_Homo sapiens_hsa047420.98191207
69Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.96718921
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93185620
71Basal cell carcinoma_Homo sapiens_hsa052170.92956920
72Oocyte meiosis_Homo sapiens_hsa041140.92893154
73RNA polymerase_Homo sapiens_hsa030200.90480122
74Regulation of autophagy_Homo sapiens_hsa041400.89675223
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.87575546
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.86313656
77VEGF signaling pathway_Homo sapiens_hsa043700.85946475
78ABC transporters_Homo sapiens_hsa020100.82553633
79Maturity onset diabetes of the young_Homo sapiens_hsa049500.79923704
80Arachidonic acid metabolism_Homo sapiens_hsa005900.77530856
81Retinol metabolism_Homo sapiens_hsa008300.75869439
82Metabolic pathways_Homo sapiens_hsa011000.75528813
83Colorectal cancer_Homo sapiens_hsa052100.74472976
84Thyroid cancer_Homo sapiens_hsa052160.72682586
85Huntingtons disease_Homo sapiens_hsa050160.72516380
86Serotonergic synapse_Homo sapiens_hsa047260.71285536
87Glutathione metabolism_Homo sapiens_hsa004800.71244382
88Morphine addiction_Homo sapiens_hsa050320.69048462
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67930037
90Calcium signaling pathway_Homo sapiens_hsa040200.66859076
91One carbon pool by folate_Homo sapiens_hsa006700.66829444
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.66116726
93Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65116823
94Primary immunodeficiency_Homo sapiens_hsa053400.65072022
95Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.64364121
96Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.64135222
97Glycosaminoglycan degradation_Homo sapiens_hsa005310.63452135
98Circadian entrainment_Homo sapiens_hsa047130.63119832
99Glycerolipid metabolism_Homo sapiens_hsa005610.61550186
100Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.60004355
101Proteasome_Homo sapiens_hsa030500.59914054
102N-Glycan biosynthesis_Homo sapiens_hsa005100.57625638
103Ovarian steroidogenesis_Homo sapiens_hsa049130.56933015
104MicroRNAs in cancer_Homo sapiens_hsa052060.55856368
105Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55720162
106GABAergic synapse_Homo sapiens_hsa047270.54764080
107Cysteine and methionine metabolism_Homo sapiens_hsa002700.54552730
108Pyrimidine metabolism_Homo sapiens_hsa002400.53278480
109Galactose metabolism_Homo sapiens_hsa000520.52375200
110RNA degradation_Homo sapiens_hsa030180.51797308
111Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.51211137
112AMPK signaling pathway_Homo sapiens_hsa041520.49923415
113Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.48395359
114Glutamatergic synapse_Homo sapiens_hsa047240.47718665
115Basal transcription factors_Homo sapiens_hsa030220.47562453
116Gap junction_Homo sapiens_hsa045400.47473145
117Salivary secretion_Homo sapiens_hsa049700.47142380
118Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.45402102
119Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44861195
120Tight junction_Homo sapiens_hsa045300.43986166
121Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.43772336
122Long-term depression_Homo sapiens_hsa047300.43717709
123Chronic myeloid leukemia_Homo sapiens_hsa052200.43488599
124Viral carcinogenesis_Homo sapiens_hsa052030.42144004
125Glycerophospholipid metabolism_Homo sapiens_hsa005640.41004658
126SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40700738
127Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40473523
128ErbB signaling pathway_Homo sapiens_hsa040120.39441732
129Insulin signaling pathway_Homo sapiens_hsa049100.38401021
130Acute myeloid leukemia_Homo sapiens_hsa052210.37332530
131Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36957635
132Choline metabolism in cancer_Homo sapiens_hsa052310.36336525
133Renin secretion_Homo sapiens_hsa049240.36194432
134Dorso-ventral axis formation_Homo sapiens_hsa043200.35725107
135Alzheimers disease_Homo sapiens_hsa050100.34710635
136Central carbon metabolism in cancer_Homo sapiens_hsa052300.33961896
137Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.33646181
138Epstein-Barr virus infection_Homo sapiens_hsa051690.28869506
139Legionellosis_Homo sapiens_hsa051340.27781249
140Viral myocarditis_Homo sapiens_hsa054160.27390008
141Drug metabolism - other enzymes_Homo sapiens_hsa009830.26076498
142Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25805368
143Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.24658300
144Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.24211215
145* Lysine degradation_Homo sapiens_hsa003100.23969085
146Primary bile acid biosynthesis_Homo sapiens_hsa001200.23946977
147Fatty acid elongation_Homo sapiens_hsa000620.22898929
148Steroid biosynthesis_Homo sapiens_hsa001000.22292311
149Carbon metabolism_Homo sapiens_hsa012000.21433641
150Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.17546023
151Proteoglycans in cancer_Homo sapiens_hsa052050.15900098
152PI3K-Akt signaling pathway_Homo sapiens_hsa041510.15667188
153Herpes simplex infection_Homo sapiens_hsa051680.15426356
154Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.15283879
155Selenocompound metabolism_Homo sapiens_hsa004500.15163649
156Small cell lung cancer_Homo sapiens_hsa052220.15060104
157Pyruvate metabolism_Homo sapiens_hsa006200.14855734
158MAPK signaling pathway_Homo sapiens_hsa040100.13984949
159HTLV-I infection_Homo sapiens_hsa051660.12817841

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