SPO11

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: Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* meiosis I (GO:0007127)9.99758603
2sister chromatid cohesion (GO:0007062)8.85529168
3* meiotic cell cycle process (GO:1903046)8.51500909
4regulation of meiosis I (GO:0060631)7.45744325
5positive regulation of gamma-delta T cell activation (GO:0046645)7.37491529
6regulation of gamma-delta T cell differentiation (GO:0045586)7.19893029
7histone H3-K9 demethylation (GO:0033169)6.94888837
8resolution of meiotic recombination intermediates (GO:0000712)6.70602824
9V(D)J recombination (GO:0033151)6.59845409
10regulation of gamma-delta T cell activation (GO:0046643)6.57844977
11histone H3-K36 demethylation (GO:0070544)6.52122518
12meiotic chromosome segregation (GO:0045132)6.47382478
13antigen processing and presentation via MHC class Ib (GO:0002475)6.30625478
14regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450916.19146039
15positive T cell selection (GO:0043368)6.14958545
16negative regulation of erythrocyte differentiation (GO:0045647)6.03432294
17ribosomal small subunit assembly (GO:0000028)6.01569977
18antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.75739854
19antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.75739854
20regulation of regulatory T cell differentiation (GO:0045589)5.50539201
21definitive hemopoiesis (GO:0060216)5.42487698
22negative regulation of thymocyte apoptotic process (GO:0070244)5.39551325
23mucosal-associated lymphoid tissue development (GO:0048537)5.32038324
24Peyers patch development (GO:0048541)5.32038324
25* reciprocal meiotic recombination (GO:0007131)5.28987377
26* reciprocal DNA recombination (GO:0035825)5.28987377
27genitalia morphogenesis (GO:0035112)5.27701879
28negative regulation of inclusion body assembly (GO:0090084)5.25133067
29positive thymic T cell selection (GO:0045059)5.14148249
30T cell selection (GO:0045058)5.13722537
31antigen processing and presentation of endogenous antigen (GO:0019883)5.03806681
32negative T cell selection (GO:0043383)5.03369109
33positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.01966747
34DNA alkylation (GO:0006305)4.91894236
35DNA methylation (GO:0006306)4.91894236
36lymph node development (GO:0048535)4.88564513
37cilium or flagellum-dependent cell motility (GO:0001539)4.83435243
38positive regulation of response to oxidative stress (GO:1902884)4.79854998
39positive regulation of cellular response to oxidative stress (GO:1900409)4.79854998
40positive regulation of meiosis (GO:0045836)4.79291161
41regulation of DNA endoreduplication (GO:0032875)4.68821496
42regulation of meiotic cell cycle (GO:0051445)4.68816101
43megakaryocyte development (GO:0035855)4.68523292
44regulation of transcription from RNA polymerase I promoter (GO:0006356)4.55659865
45positive regulation of meiotic cell cycle (GO:0051446)4.46047971
46regulation of interleukin-12 biosynthetic process (GO:0045075)4.45098193
47negative regulation of gene silencing (GO:0060969)4.38488873
48DNA biosynthetic process (GO:0071897)4.37865637
49antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.34997967
50reproductive system development (GO:0061458)4.30990930
51mast cell activation (GO:0045576)4.30135538
52fusion of sperm to egg plasma membrane (GO:0007342)4.29534634
53regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.13318781
54cellular hyperosmotic response (GO:0071474)4.08343692
55T cell receptor signaling pathway (GO:0050852)4.04080164
56mature B cell differentiation involved in immune response (GO:0002313)4.03482449
57histone H2A acetylation (GO:0043968)4.03221593
58endosome to melanosome transport (GO:0035646)4.02711031
59endosome to pigment granule transport (GO:0043485)4.02711031
60T cell homeostasis (GO:0043029)4.00005729
61regulation of histone H3-K9 methylation (GO:0051570)3.96008956
62intra-S DNA damage checkpoint (GO:0031573)3.85750424
63piRNA metabolic process (GO:0034587)3.82970064
64positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.80852783
65positive regulation of natural killer cell mediated immunity (GO:0002717)3.80852783
66histone H4-K12 acetylation (GO:0043983)3.80578240
67T cell differentiation (GO:0030217)3.80177268
68positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.80043254
69attachment of spindle microtubules to kinetochore (GO:0008608)3.76960945
70negative thymic T cell selection (GO:0045060)3.74719029
71alpha-beta T cell activation (GO:0046631)3.74274455
72histone lysine demethylation (GO:0070076)3.74064163
73thymic T cell selection (GO:0045061)3.72231233
74* chromosome organization (GO:0051276)3.64020357
75regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.63789978
76histone demethylation (GO:0016577)3.61958428
77antigen receptor-mediated signaling pathway (GO:0050851)3.54227189
78mitotic sister chromatid cohesion (GO:0007064)3.53166015
79positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc3.52969861
80interferon-gamma production (GO:0032609)3.52470786
81regulation of cilium movement (GO:0003352)3.50735169
82activated T cell proliferation (GO:0050798)3.50452739
83regulation of thymocyte apoptotic process (GO:0070243)3.49948938
84DNA methylation or demethylation (GO:0044728)3.49501238
85mast cell activation involved in immune response (GO:0002279)3.49284139
86mast cell degranulation (GO:0043303)3.49284139
87alpha-beta T cell differentiation (GO:0046632)3.47157798
88negative regulation of T cell apoptotic process (GO:0070233)3.43141646
89gene silencing (GO:0016458)3.42229950
90meiotic cell cycle (GO:0051321)3.41956986
91* spermatid development (GO:0007286)3.41665965
92positive regulation of interleukin-2 production (GO:0032743)3.37551951
93regulation of natural killer cell mediated immunity (GO:0002715)3.36914298
94regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.36914298
95negative regulation of DNA repair (GO:0045738)3.35238955
96plasma membrane fusion (GO:0045026)3.34531275
97somatic cell DNA recombination (GO:0016444)3.32114296
98somatic diversification of immune receptors via germline recombination within a single locus (GO:0003.32114296
99cell-cell recognition (GO:0009988)3.31668488
100protein demethylation (GO:0006482)3.31634652
101protein dealkylation (GO:0008214)3.31634652
102viral transcription (GO:0019083)3.30833359
103sperm-egg recognition (GO:0035036)3.29824793
104sperm motility (GO:0030317)3.29066335
105DNA methylation involved in gamete generation (GO:0043046)3.26917167
106fertilization (GO:0009566)3.25960512
107histone H4-K16 acetylation (GO:0043984)3.22577903
108signal complex assembly (GO:0007172)3.22448899
109binding of sperm to zona pellucida (GO:0007339)3.19118202
110positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.18204530
111axonemal dynein complex assembly (GO:0070286)3.18165678
112leukocyte homeostasis (GO:0001776)3.16895952
113sex differentiation (GO:0007548)3.15780189
114mitotic spindle assembly checkpoint (GO:0007094)3.14138549
115interkinetic nuclear migration (GO:0022027)3.13714918
116histone exchange (GO:0043486)3.13552838
117mature B cell differentiation (GO:0002335)3.12582152
118protein refolding (GO:0042026)3.09858036
119somatic diversification of immune receptors (GO:0002200)3.09602662
120positive regulation of granulocyte differentiation (GO:0030854)3.09380723
121myeloid dendritic cell activation (GO:0001773)3.09006719
122oogenesis (GO:0048477)3.08993092
123regulation of microtubule-based movement (GO:0060632)3.08233243
124embryonic body morphogenesis (GO:0010172)3.07743666
125translational termination (GO:0006415)3.06470769
126regulation of defense response to virus by virus (GO:0050690)3.05749700
127spindle assembly checkpoint (GO:0071173)3.05367187
128regulation of meiosis (GO:0040020)3.03759936
129lymphocyte homeostasis (GO:0002260)3.02674400
130DNA packaging (GO:0006323)3.02163064
131* nuclear division (GO:0000280)3.01829134
132male meiosis (GO:0007140)3.01738583
133regulation of T cell receptor signaling pathway (GO:0050856)3.01479826
134maturation of SSU-rRNA (GO:0030490)2.98752385
135ribosomal small subunit biogenesis (GO:0042274)2.98216095
136T cell differentiation in thymus (GO:0033077)2.97481051
137negative regulation of sister chromatid segregation (GO:0033046)2.91760022
138negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.91760022
139negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.91760022
140negative regulation of mitotic sister chromatid segregation (GO:0033048)2.91760022
141negative regulation of mitotic sister chromatid separation (GO:2000816)2.91760022
142mitotic chromosome condensation (GO:0007076)2.91325047
143regulation of inclusion body assembly (GO:0090083)2.89963236
144T cell costimulation (GO:0031295)2.89664390
145mitotic spindle checkpoint (GO:0071174)2.89295758
146positive regulation of cell killing (GO:0031343)2.89000960
147negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)2.87233708
148lymphocyte costimulation (GO:0031294)2.85043389
149lymphocyte differentiation (GO:0030098)2.84227165
150* female gamete generation (GO:0007292)2.84029780
151CD4-positive, alpha-beta T cell differentiation (GO:0043367)2.83998126
152motile cilium assembly (GO:0044458)2.83982299
153positive regulation of natural killer cell differentiation (GO:0032825)2.81940886
154T cell activation (GO:0042110)2.81721477
155cellular response to interleukin-15 (GO:0071350)2.81629959
156regulation of leukocyte mediated cytotoxicity (GO:0001910)2.81338625
157phospholipid scrambling (GO:0017121)2.81281876
158striatum development (GO:0021756)2.80531952
159multicellular organism reproduction (GO:0032504)2.79846461
160regulation of protein polyubiquitination (GO:1902914)2.79704041
161negative regulation of chromosome segregation (GO:0051985)2.79284314
162* organelle fission (GO:0048285)2.79145448
163DNA modification (GO:0006304)2.77118799
164response to interleukin-15 (GO:0070672)2.76620522
165histone H4-K8 acetylation (GO:0043982)2.76487187
166histone H4-K5 acetylation (GO:0043981)2.76487187
167response to interferon-beta (GO:0035456)2.75348217
168gene silencing by RNA (GO:0031047)2.74067422
169regulation of translation in response to stress (GO:0043555)2.73876519
170negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)2.73824446
171acrosome assembly (GO:0001675)2.65275382
172regulation of chromatin silencing (GO:0031935)2.64137231
173* gamete generation (GO:0007276)2.63442330
174proteasome assembly (GO:0043248)2.62530910
175negative regulation of meiosis (GO:0045835)2.60481171
176spindle checkpoint (GO:0031577)2.58488350
177regulation of sister chromatid segregation (GO:0033045)2.58226265
178regulation of mitotic sister chromatid separation (GO:0010965)2.58226265
179regulation of mitotic sister chromatid segregation (GO:0033047)2.58226265
180* male gamete generation (GO:0048232)2.55080178
181nuclear pore complex assembly (GO:0051292)2.55072359
182* spermatogenesis (GO:0007283)2.54069953
183regulation of NFAT protein import into nucleus (GO:0051532)2.52578850
184regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.49585522
185regulation of mitotic metaphase/anaphase transition (GO:0030071)2.49585522
186synaptonemal complex assembly (GO:0007130)15.9493847
187* chromosome organization involved in meiosis (GO:0070192)15.4408665
188DNA synthesis involved in DNA repair (GO:0000731)15.3192976
189* synapsis (GO:0007129)14.9038521
190synaptonemal complex organization (GO:0070193)14.4160982
191* male meiosis I (GO:0007141)12.5419502
192* meiotic nuclear division (GO:0007126)10.6506282

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat8.03928398
2SCL_19346495_ChIP-Seq_HPC-7_Human4.97467734
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.83796291
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.78517045
5BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.57587296
6SALL1_21062744_ChIP-ChIP_HESCs_Human4.01507238
7RNF2_27304074_Chip-Seq_NSC_Mouse3.78809171
8IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.61830500
9BMI1_23680149_ChIP-Seq_NPCS_Mouse3.52189058
10RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.20870645
11MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.19033600
12MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.08152399
13IRF8_22096565_ChIP-ChIP_GC-B_Human3.06708601
14RUNX_20019798_ChIP-Seq_JUKART_Human3.03687967
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.02688166
16* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.97059225
17MYB_26560356_Chip-Seq_TH2_Human2.79622376
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.76964655
19IGF1R_20145208_ChIP-Seq_DFB_Human2.75525108
20LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.65473423
21STAT4_19710469_ChIP-ChIP_TH1__Mouse2.63023223
22MYC_22102868_ChIP-Seq_BL_Human2.62569558
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.60958545
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.59095321
25EGR1_19374776_ChIP-ChIP_THP-1_Human2.49245855
26SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.40990827
27RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.40330572
28MYB_26560356_Chip-Seq_TH1_Human2.35092290
29STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.25409823
30CBX2_27304074_Chip-Seq_ESCs_Mouse2.20806577
31* GATA3_27048872_Chip-Seq_THYMUS_Human2.20713263
32VDR_21846776_ChIP-Seq_THP-1_Human2.19802630
33* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.19613725
34CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.19301940
35UTX_26944678_Chip-Seq_JUKART_Human2.19128054
36MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.17200584
37HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.17123646
38KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.16590023
39FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.16142839
40TCF7_22412390_ChIP-Seq_EML_Mouse2.15959159
41MYB_21317192_ChIP-Seq_ERMYB_Mouse2.15624209
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.13106282
43ELF1_17652178_ChIP-ChIP_JURKAT_Human2.11419378
44RUNX1_22412390_ChIP-Seq_EML_Mouse2.05327594
45POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.04301583
46* TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.03387965
47MAF_26560356_Chip-Seq_TH1_Human2.02028515
48BP1_19119308_ChIP-ChIP_Hs578T_Human2.00772229
49* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.99540939
50IRF8_27001747_Chip-Seq_BMDM_Mouse1.96531297
51FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.91792349
52SPI1_23547873_ChIP-Seq_NB4_Human1.90466158
53VDR_24763502_ChIP-Seq_THP-1_Human1.88780907
54FUS_26573619_Chip-Seq_HEK293_Human1.85620177
55IRF8_21731497_ChIP-ChIP_J774_Mouse1.83148094
56PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.81964628
57BCAT_22108803_ChIP-Seq_LS180_Human1.78645929
58* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.75910900
59NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.71558636
60KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.70261092
61KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.70261092
62KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.70261092
63RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.70239924
64E2F1_21310950_ChIP-Seq_MCF-7_Human1.69881025
65GATA2_22383799_ChIP-Seq_G1ME_Mouse1.67584269
66GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.65510478
67MYCN_18555785_ChIP-Seq_MESCs_Mouse1.64756541
68* SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.61889614
69ZNF274_21170338_ChIP-Seq_K562_Hela1.54913013
70* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.54905760
71SPI1_23127762_ChIP-Seq_K562_Human1.53252718
72SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.51500605
73KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.50589152
74* ER_23166858_ChIP-Seq_MCF-7_Human1.50391448
75CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.50225254
76GATA1_19941827_ChIP-Seq_MEL_Mouse1.49103092
77FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.49037700
78ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.47862809
79DCP1A_22483619_ChIP-Seq_HELA_Human1.45671709
80CIITA_25753668_ChIP-Seq_RAJI_Human1.45541711
81ERA_21632823_ChIP-Seq_H3396_Human1.44869872
82GATA2_21666600_ChIP-Seq_HMVEC_Human1.42671344
83GATA1_22383799_ChIP-Seq_G1ME_Mouse1.41817790
84TP53_22573176_ChIP-Seq_HFKS_Human1.40035398
85PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.38267767
86IRF1_19129219_ChIP-ChIP_H3396_Human1.38170790
87NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.37564198
88GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.35989230
89ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.34750201
90HOXB4_20404135_ChIP-ChIP_EML_Mouse1.34748264
91CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.33989415
92FOXA1_21572438_ChIP-Seq_LNCaP_Human1.33580882
93RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.32108423
94MYC_18940864_ChIP-ChIP_HL60_Human1.30593936
95RUNX2_22187159_ChIP-Seq_PCA_Human1.30423742
96NOTCH1_21737748_ChIP-Seq_TLL_Human1.29339750
97ETS1_22383799_ChIP-Seq_G1ME_Mouse1.28612885
98GATA3_26560356_Chip-Seq_TH2_Human1.25849745
99SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.24349593
100TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.24185543
101YY1_22570637_ChIP-Seq_MALME-3M_Human1.23427281
102ERG_20887958_ChIP-Seq_HPC-7_Mouse1.21574738
103AR_25329375_ChIP-Seq_VCAP_Human1.21334645
104SMAD4_21741376_ChIP-Seq_EPCs_Human1.21023118
105E2F7_22180533_ChIP-Seq_HELA_Human1.20944894
106TAF15_26573619_Chip-Seq_HEK293_Human1.20859513
107MAF_26560356_Chip-Seq_TH2_Human1.20043557
108TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19515083
109CTBP1_25329375_ChIP-Seq_LNCAP_Human1.17103137
110BRD4_27068464_Chip-Seq_AML-cells_Mouse1.16977593
111KLF5_20875108_ChIP-Seq_MESCs_Mouse1.16948310
112SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.16123910
113CTBP2_25329375_ChIP-Seq_LNCAP_Human1.15594086
114TP63_19390658_ChIP-ChIP_HaCaT_Human1.15028163
115PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14561965
116KDM2B_26808549_Chip-Seq_DND41_Human1.14308251
117MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.08861824
118GATA1_22025678_ChIP-Seq_K562_Human1.08559321
119KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.07837737
120VDR_22108803_ChIP-Seq_LS180_Human1.07761718
121TCF4_23295773_ChIP-Seq_U87_Human1.07691034
122DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.07006048
123KAP1_22055183_ChIP-Seq_ESCs_Mouse1.04671183
124STAT3_23295773_ChIP-Seq_U87_Human1.03497190
125PU.1_20513432_ChIP-Seq_Bcells_Mouse1.02152148
126GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01638920
127GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.01164237
128POU5F1_16153702_ChIP-ChIP_HESCs_Human1.00642467
129FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00286536
130FOXA1_25329375_ChIP-Seq_VCAP_Human1.00286536
131EZH2_22144423_ChIP-Seq_EOC_Human0.99738495
132HTT_18923047_ChIP-ChIP_STHdh_Human0.99396937
133FOXP3_21729870_ChIP-Seq_TREG_Human0.98627600
134CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98325930
135GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97656115
136CTCF_18555785_ChIP-Seq_MESCs_Mouse0.97613818
137* TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96188233
138TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.95879082
139RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95795067
140RUNX1_26923725_Chip-Seq_HPCs_Mouse0.94062103
141EWS_26573619_Chip-Seq_HEK293_Human0.93982503
142PU_27001747_Chip-Seq_BMDM_Mouse0.92728066
143* TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.92175183
144FOXH1_21741376_ChIP-Seq_EPCs_Human0.92061068
145CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91177790
146ETV1_20927104_ChIP-Seq_GIST48_Human0.91137416
147PRDM14_20953172_ChIP-Seq_ESCs_Human0.90447380
148EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.90219050
149GABP_19822575_ChIP-Seq_HepG2_Human0.90192592
150UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89504434
151NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.89226527
152PKCTHETA_26484144_Chip-Seq_BREAST_Human0.89124968
153MYC_19829295_ChIP-Seq_ESCs_Human0.88273683
154SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.86787170
155KDM5A_27292631_Chip-Seq_BREAST_Human0.86234462
156TOP2B_26459242_ChIP-Seq_MCF-7_Human0.86233145
157SOX2_21211035_ChIP-Seq_LN229_Human0.85633258
158PHF8_20622853_ChIP-Seq_HELA_Human0.85261380
159ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.85146048
160CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84296670
161GATA3_26560356_Chip-Seq_TH1_Human0.84116357
162SMAD_19615063_ChIP-ChIP_OVARY_Human0.83654346
163AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83216439
164GATA1_19941826_ChIP-Seq_K562_Human0.83197393
165CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83150755
166CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.82352097
167TTF2_22483619_ChIP-Seq_HELA_Human0.82214520
168PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.82046501
169E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.81662271
170FOXM1_23109430_ChIP-Seq_U2OS_Human0.81403064
171* HOXB7_26014856_ChIP-Seq_BT474_Human0.81226822
172SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.81136761
173LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.80597215
174RBPJ_22232070_ChIP-Seq_NCS_Mouse0.80483828
175* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.78814844
176MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.78728591
177PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.78384077
178TET1_21490601_ChIP-Seq_MESCs_Mouse0.77020817
179EST1_17652178_ChIP-ChIP_JURKAT_Human0.75579206
180MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.75408219
181* RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.75372587
182AR_20517297_ChIP-Seq_VCAP_Human0.73858973
183CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.73762031
184STAT3_18555785_Chip-Seq_ESCs_Mouse0.73710818
185E2F4_17652178_ChIP-ChIP_JURKAT_Human0.73366023
186SRY_22984422_ChIP-ChIP_TESTIS_Rat0.72762062
187YY1_21170310_ChIP-Seq_MESCs_Mouse0.72569603
188VDR_23849224_ChIP-Seq_CD4+_Human0.70527007
189FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.70328842
190* CTCF_26484167_Chip-Seq_Bcells_Mouse0.70283299

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008058_abnormal_DNA_repair5.04202318
2MP0009278_abnormal_bone_marrow4.09145582
3MP0001986_abnormal_taste_sensitivity4.07876528
4MP0005671_abnormal_response_to3.77279155
5MP0003763_abnormal_thymus_physiology3.66878549
6MP0005409_darkened_coat_color3.64783638
7MP0000685_abnormal_immune_system3.48134172
8MP0004808_abnormal_hematopoietic_stem3.36686042
9MP0005410_abnormal_fertilization3.31434001
10MP0005174_abnormal_tail_pigmentation3.07285748
11MP0005397_hematopoietic_system_phenotyp3.04510456
12MP0001545_abnormal_hematopoietic_system3.04510456
13MP0001835_abnormal_antigen_presentation2.96639955
14MP0002396_abnormal_hematopoietic_system2.81366699
15MP0009785_altered_susceptibility_to2.79564009
16MP0008004_abnormal_stomach_pH2.77112509
17MP0008995_early_reproductive_senescence2.68908488
18MP0001661_extended_life_span2.56738144
19MP0000703_abnormal_thymus_morphology2.54206325
20MP0002166_altered_tumor_susceptibility2.51979527
21MP0001800_abnormal_humoral_immune2.33949420
22MP0000678_abnormal_parathyroid_gland2.31714544
23MP0002398_abnormal_bone_marrow2.26817251
24MP0010678_abnormal_skin_adnexa2.26307103
25* MP0001119_abnormal_female_reproductive2.22504862
26MP0002095_abnormal_skin_pigmentation2.12781246
27MP0005464_abnormal_platelet_physiology2.09251712
28MP0000015_abnormal_ear_pigmentation2.08674329
29MP0005025_abnormal_response_to2.07744833
30MP0001790_abnormal_immune_system1.99279402
31MP0005387_immune_system_phenotype1.99279402
32MP0000427_abnormal_hair_cycle1.97842906
33MP0003123_paternal_imprinting1.93978730
34MP0002722_abnormal_immune_system1.92760595
35MP0003646_muscle_fatigue1.89989862
36MP0000689_abnormal_spleen_morphology1.89431726
37MP0000716_abnormal_immune_system1.88407798
38MP0010155_abnormal_intestine_physiology1.87965968
39MP0002420_abnormal_adaptive_immunity1.87099700
40MP0002723_abnormal_immune_serum1.86907761
41MP0001819_abnormal_immune_cell1.83707364
42MP0002132_abnormal_respiratory_system1.81456411
43MP0004947_skin_inflammation1.79038002
44* MP0003699_abnormal_female_reproductive1.75873063
45MP0002006_tumorigenesis1.74915675
46MP0002452_abnormal_antigen_presenting1.71865945
47MP0002405_respiratory_system_inflammati1.69258827
48MP0009333_abnormal_splenocyte_physiolog1.65540303
49MP0002148_abnormal_hypersensitivity_rea1.56771784
50MP0001348_abnormal_lacrimal_gland1.55827672
51MP0002429_abnormal_blood_cell1.55075848
52MP0003786_premature_aging1.52083330
53MP0004147_increased_porphyrin_level1.51174934
54MP0000569_abnormal_digit_pigmentation1.50110016
55MP0005000_abnormal_immune_tolerance1.48453454
56MP0008057_abnormal_DNA_replication1.39528575
57MP0003724_increased_susceptibility_to1.38447575
58* MP0001929_abnormal_gametogenesis1.37732638
59* MP0002160_abnormal_reproductive_system1.36737589
60* MP0003698_abnormal_male_reproductive1.35018605
61MP0010094_abnormal_chromosome_stability1.33190703
62MP0001849_ear_inflammation1.32095190
63MP0003718_maternal_effect1.26880219
64MP0000579_abnormal_nail_morphology1.25158486
65MP0005275_abnormal_skin_tensile1.24832078
66MP0005075_abnormal_melanosome_morpholog1.22445511
67MP0000465_gastrointestinal_hemorrhage1.22147301
68MP0008789_abnormal_olfactory_epithelium1.21039588
69MP0003111_abnormal_nucleus_morphology1.20675585
70MP0008877_abnormal_DNA_methylation1.18173613
71MP0002419_abnormal_innate_immunity1.16974032
72MP0001845_abnormal_inflammatory_respons1.16794648
73MP0004130_abnormal_muscle_cell1.15044303
74MP0003866_abnormal_defecation1.14819817
75MP0005379_endocrine/exocrine_gland_phen1.14676042
76MP0000490_abnormal_crypts_of1.12502665
77MP0004510_myositis1.12264645
78MP0000681_abnormal_thyroid_gland1.12042186
79* MP0002210_abnormal_sex_determination1.10273998
80* MP0005389_reproductive_system_phenotype1.07756452
81MP0002249_abnormal_larynx_morphology1.06153016
82MP0001984_abnormal_olfaction1.04415736
83MP0001873_stomach_inflammation1.01516588
84MP0006082_CNS_inflammation1.01382725
85MP0009703_decreased_birth_body1.01031032
86MP0003943_abnormal_hepatobiliary_system0.99972869
87MP0003937_abnormal_limbs/digits/tail_de0.99442843
88MP0003879_abnormal_hair_cell0.98721684
89MP0010307_abnormal_tumor_latency0.98709520
90MP0005365_abnormal_bile_salt0.96476735
91MP0000647_abnormal_sebaceous_gland0.95739276
92MP0000013_abnormal_adipose_tissue0.94726271
93MP0006035_abnormal_mitochondrial_morpho0.94112191
94MP0009379_abnormal_foot_pigmentation0.93455635
95MP0002933_joint_inflammation0.92510095
96MP0010030_abnormal_orbit_morphology0.92332701
97MP0005310_abnormal_salivary_gland0.91429471
98MP0003303_peritoneal_inflammation0.91144651
99MP0001915_intracranial_hemorrhage0.89190177
100* MP0001145_abnormal_male_reproductive0.88867698
101MP0001879_abnormal_lymphatic_vessel0.88230998
102MP0006292_abnormal_olfactory_placode0.85761367
103MP0002084_abnormal_developmental_patter0.84885253
104MP0003119_abnormal_digestive_system0.83999356
105MP0000358_abnormal_cell_content/0.83147506
106MP0003077_abnormal_cell_cycle0.82985669
107MP0001730_embryonic_growth_arrest0.82606537
108MP0001243_abnormal_dermal_layer0.82590688
109MP0008007_abnormal_cellular_replicative0.82565098
110MP0003183_abnormal_peptide_metabolism0.81327924
111MP0002876_abnormal_thyroid_physiology0.81041262
112MP0000778_abnormal_nervous_system0.80118568
113MP0001919_abnormal_reproductive_system0.80081078
114MP0001188_hyperpigmentation0.79975348
115MP0005076_abnormal_cell_differentiation0.78135605
116MP0002089_abnormal_postnatal_growth/wei0.77841149
117MP0002139_abnormal_hepatobiliary_system0.76596623
118MP0002075_abnormal_coat/hair_pigmentati0.75129365
119MP0003693_abnormal_embryo_hatching0.74715190
120MP0000767_abnormal_smooth_muscle0.74409073
121MP0008569_lethality_at_weaning0.73506384
122* MP0000653_abnormal_sex_gland0.73040259
123MP0005220_abnormal_exocrine_pancreas0.72310731
124MP0002282_abnormal_trachea_morphology0.69901414
125MP0001697_abnormal_embryo_size0.68407627
126MP0002019_abnormal_tumor_incidence0.68222594
127MP0002653_abnormal_ependyma_morphology0.68193399
128MP0002971_abnormal_brown_adipose0.67931602
129MP0000858_altered_metastatic_potential0.67613127
130* MP0002161_abnormal_fertility/fecundity0.67018131
131MP0000383_abnormal_hair_follicle0.65951026
132MP0009765_abnormal_xenobiotic_induced0.65873912
133MP0003436_decreased_susceptibility_to0.65857410
134MP0008469_abnormal_protein_level0.65790119
135MP0003936_abnormal_reproductive_system0.65741004
136MP0005499_abnormal_olfactory_system0.64662520
137MP0005394_taste/olfaction_phenotype0.64662520
138MP0001502_abnormal_circadian_rhythm0.64218988
139MP0002234_abnormal_pharynx_morphology0.63919632
140MP0000477_abnormal_intestine_morphology0.62220968
141MP0005058_abnormal_lysosome_morphology0.61798347
142MP0008260_abnormal_autophagy0.60381072
143MP0000920_abnormal_myelination0.60322534
144MP0001765_abnormal_ion_homeostasis0.59471500
145MP0003300_gastrointestinal_ulcer0.58510675
146MP0009250_abnormal_appendicular_skeleto0.58113899
147MP0003941_abnormal_skin_development0.57156509
148MP0008961_abnormal_basal_metabolism0.56736388
149MP0002998_abnormal_bone_remodeling0.56003862
150MP0001764_abnormal_homeostasis0.55528599
151MP0009763_increased_sensitivity_to0.53904013
152MP0002085_abnormal_embryonic_tissue0.52581362
153MP0000313_abnormal_cell_death0.52577497
154MP0001191_abnormal_skin_condition0.52401982
155MP0001853_heart_inflammation0.51648402
156MP0004019_abnormal_vitamin_homeostasis0.51568914
157MP0001672_abnormal_embryogenesis/_devel0.50439205
158MP0005380_embryogenesis_phenotype0.50439205
159MP0001501_abnormal_sleep_pattern0.50140470
160MP0005647_abnormal_sex_gland0.46851359
161MP0003984_embryonic_growth_retardation0.45911936
162MP0003121_genomic_imprinting0.44562279
163MP0003861_abnormal_nervous_system0.44287804
164MP0003136_yellow_coat_color0.43821242
165MP0002088_abnormal_embryonic_growth/wei0.43459634
166MP0004233_abnormal_muscle_weight0.43077136
167MP0005666_abnormal_adipose_tissue0.42718145
168MP0002116_abnormal_craniofacial_bone0.40877777
169MP0005423_abnormal_somatic_nervous0.40593633
170MP0000350_abnormal_cell_proliferation0.39907725
171MP0003938_abnormal_ear_development0.39585979
172MP0002114_abnormal_axial_skeleton0.39283156
173MP0003453_abnormal_keratinocyte_physiol0.38613699
174MP0004742_abnormal_vestibular_system0.37620716
175MP0000631_abnormal_neuroendocrine_gland0.37036882
176MP0003115_abnormal_respiratory_system0.35205447
177MP0005384_cellular_phenotype0.34773567
178MP0002970_abnormal_white_adipose0.34216205

Predicted human phenotypes

RankGene SetZ-score
1Hypoplasia of the thymus (HP:0000778)7.64353547
2B lymphocytopenia (HP:0010976)7.00756496
3Abnormality of B cell number (HP:0010975)7.00756496
4Oligodactyly (hands) (HP:0001180)6.83385202
5Panhypogammaglobulinemia (HP:0003139)6.56390243
6T lymphocytopenia (HP:0005403)6.53407115
7Shoulder girdle muscle weakness (HP:0003547)6.48068290
8Nasal polyposis (HP:0100582)6.35524261
9Azoospermia (HP:0000027)6.17442008
10Abnormality of T cell number (HP:0011839)6.10857914
11Hypoproteinemia (HP:0003075)5.68015467
12Spontaneous abortion (HP:0005268)5.66440197
13Thyroiditis (HP:0100646)5.58302856
14Rimmed vacuoles (HP:0003805)5.51236468
15Degeneration of the lateral corticospinal tracts (HP:0002314)5.49399621
16Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.49399621
17Abnormality of the nasal mucosa (HP:0000433)5.48893632
18Severe combined immunodeficiency (HP:0004430)4.96527213
19Thrombocytosis (HP:0001894)4.77362054
20Amyotrophic lateral sclerosis (HP:0007354)4.76302133
21Oligodactyly (HP:0012165)4.75444156
22Abnormality of the lower motor neuron (HP:0002366)4.72970378
23Rectal prolapse (HP:0002035)4.68319698
24Recurrent viral infections (HP:0004429)4.54643834
25Abnormal spermatogenesis (HP:0008669)4.53477611
26Tubulointerstitial nephritis (HP:0001970)4.19062431
27Upper motor neuron abnormality (HP:0002127)4.17330761
28Combined immunodeficiency (HP:0005387)4.15195720
29Abnormality of the corticospinal tract (HP:0002492)4.14681005
30Dynein arm defect of respiratory motile cilia (HP:0012255)4.12298929
31Absent/shortened dynein arms (HP:0200106)4.12298929
32Recurrent fungal infections (HP:0002841)4.04881443
33IgG deficiency (HP:0004315)3.98625427
34Eosinophilia (HP:0001880)3.94053539
35Horizontal nystagmus (HP:0000666)3.91915232
36Abnormality of T cells (HP:0002843)3.89414906
37Increased nuchal translucency (HP:0010880)3.87467712
38Recurrent bronchitis (HP:0002837)3.79013840
39Facial hemangioma (HP:0000329)3.49860864
40Abnormality of eosinophils (HP:0001879)3.48183651
41Granulocytopenia (HP:0001913)3.41621596
42IgM deficiency (HP:0002850)3.37962776
43Atrophy/Degeneration involving motor neurons (HP:0007373)3.37575134
44Chronic otitis media (HP:0000389)3.35131987
45Ectopic kidney (HP:0000086)3.28073448
46Capillary hemangiomas (HP:0005306)3.24227231
47Impaired vibration sensation in the lower limbs (HP:0002166)3.19680390
48Broad distal phalanx of finger (HP:0009836)3.13189603
49Aplasia/Hypoplasia of the sternum (HP:0006714)3.12783865
50Follicular hyperkeratosis (HP:0007502)3.05428580
51Pili torti (HP:0003777)2.99828126
52Abnormal delayed hypersensitivity skin test (HP:0002963)2.93455418
53Bronchiectasis (HP:0002110)2.91047484
54Abnormality of the fingertips (HP:0001211)2.88265343
55Reduced antithrombin III activity (HP:0001976)2.85618530
56Bronchitis (HP:0012387)2.84590047
57Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.83847783
58Hypochromic anemia (HP:0001931)2.79593882
59Agammaglobulinemia (HP:0004432)2.78835503
60Chronic mucocutaneous candidiasis (HP:0002728)2.74952686
61Recurrent cutaneous fungal infections (HP:0011370)2.74952686
62Large hands (HP:0001176)2.73107319
63Limb-girdle muscle weakness (HP:0003325)2.70775717
64Cheilitis (HP:0100825)2.68246791
65Metaphyseal cupping (HP:0003021)2.63552661
66Petechiae (HP:0000967)2.61664372
67Abnormal respiratory motile cilium morphology (HP:0005938)2.61362759
68Abnormal respiratory epithelium morphology (HP:0012253)2.61362759
69Chronic sinusitis (HP:0011109)2.61122906
70Non-midline cleft lip (HP:0100335)2.58302684
71Urinary urgency (HP:0000012)2.56891866
72Infertility (HP:0000789)2.56504904
73Abnormality of the renal medulla (HP:0100957)2.56343741
74Gastrointestinal inflammation (HP:0004386)2.55491866
75Leukocytosis (HP:0001974)2.55021048
76Periodontitis (HP:0000704)2.53353454
77Proximal placement of thumb (HP:0009623)2.53252470
78Abnormal protein glycosylation (HP:0012346)2.51469526
79Abnormal glycosylation (HP:0012345)2.51469526
80Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.51469526
81Abnormal protein N-linked glycosylation (HP:0012347)2.51469526
82Abnormality of the vocal cords (HP:0008777)2.49740745
83Truncal obesity (HP:0001956)2.45725998
84Abnormal respiratory motile cilium physiology (HP:0012261)2.45630866
85Nephronophthisis (HP:0000090)2.43595760
86Abnormality of chromosome segregation (HP:0002916)2.43158849
87Embryonal renal neoplasm (HP:0011794)2.41521969
88Nephroblastoma (Wilms tumor) (HP:0002667)2.40077566
89Osteomalacia (HP:0002749)2.39896373
90Abnormal lung lobation (HP:0002101)2.37255322
91Hypoplastic iliac wings (HP:0002866)2.37172345
92Meningitis (HP:0001287)2.36552799
93Volvulus (HP:0002580)2.36118802
94Fair hair (HP:0002286)2.34263524
95Type 2 muscle fiber atrophy (HP:0003554)2.32574151
96Prolonged bleeding time (HP:0003010)2.29916722
97Duodenal stenosis (HP:0100867)2.29563781
98Small intestinal stenosis (HP:0012848)2.29563781
99Abnormality of the periventricular white matter (HP:0002518)2.28923552
100Spastic gait (HP:0002064)2.27027312
101Muscle fiber atrophy (HP:0100295)2.26862273
102Supernumerary spleens (HP:0009799)2.26689574
103Short nail (HP:0001799)2.26161281
104Wrist flexion contracture (HP:0001239)2.20530511
105Chronic diarrhea (HP:0002028)2.20399939
106Acute lymphatic leukemia (HP:0006721)2.20186784
107Widely spaced teeth (HP:0000687)2.19213729
108Deviation of the thumb (HP:0009603)2.17659802
109Absent frontal sinuses (HP:0002688)2.17455541
110Gastrointestinal infarctions (HP:0005244)2.16850000
111Blepharitis (HP:0000498)2.16136414
112Cortical dysplasia (HP:0002539)2.14880547
113Urinary bladder sphincter dysfunction (HP:0002839)2.14835921
114Aplasia/Hypoplasia of the thymus (HP:0010515)2.14702368
115Abnormal ciliary motility (HP:0012262)2.14538331
116Epistaxis (HP:0000421)2.14404687
117Chromsome breakage (HP:0040012)2.14399428
118Decreased skull ossification (HP:0004331)2.13758688
11911 pairs of ribs (HP:0000878)2.13130947
120Scotoma (HP:0000575)2.13098014
121Resting tremor (HP:0002322)2.11511170
122Type I transferrin isoform profile (HP:0003642)2.10987097
123Adactyly (HP:0009776)2.10677811
124Rhinitis (HP:0012384)2.08811275
125Inflammation of the large intestine (HP:0002037)2.06331771
126Weak cry (HP:0001612)2.06026380
127Encephalitis (HP:0002383)2.04880903
128Proximal tubulopathy (HP:0000114)2.04848390
129Hypoplastic labia majora (HP:0000059)2.03768324
130Lip pit (HP:0100267)2.03545058
131Abnormality of alanine metabolism (HP:0010916)2.03502207
132Hyperalaninemia (HP:0003348)2.03502207
133Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.03502207
134Broad palm (HP:0001169)2.01836323
135Impaired vibratory sensation (HP:0002495)1.98997531
136Abnormality of the labia minora (HP:0012880)1.98819706
137Multicystic kidney dysplasia (HP:0000003)1.98193452
138Colitis (HP:0002583)1.97512396
139Hyperpituitarism (HP:0010514)1.96786284
140Erythroderma (HP:0001019)1.94906557
141Reticulocytopenia (HP:0001896)1.91460337
142Cutaneous melanoma (HP:0012056)1.91075140
143Aplasia cutis congenita (HP:0001057)1.90468799
144Hypoplasia of the radius (HP:0002984)1.90218341
145Congenital, generalized hypertrichosis (HP:0004540)1.88757476
146Muscle fiber splitting (HP:0003555)1.86648381
147Tubulointerstitial abnormality (HP:0001969)1.86375580
148Progressive external ophthalmoplegia (HP:0000590)1.85939680
149Congenital primary aphakia (HP:0007707)1.85793287
150Abnormality of the labia (HP:0000058)1.82643961
151Microvesicular hepatic steatosis (HP:0001414)1.82225808
152Abnormality of the labia majora (HP:0012881)1.81863784
153Gait imbalance (HP:0002141)1.81473350
154Asplenia (HP:0001746)1.81332833
155Menstrual irregularities (HP:0000858)1.79993807
156Abnormality of the duodenum (HP:0002246)1.79892971
157Lower limb muscle weakness (HP:0007340)1.79647732
158Synophrys (HP:0000664)1.79624055
159Abnormality of skull ossification (HP:0002703)1.79265008
160Enlarged penis (HP:0000040)1.78855608
161Abnormality of the nasal septum (HP:0000419)1.78080192
162Spastic paraplegia (HP:0001258)1.77843881
163Abnormality of cells of the erythroid lineage (HP:0012130)1.76650800
164Abnormality of DNA repair (HP:0003254)1.76420335
165Abnormality of cochlea (HP:0000375)1.74856696
166Nephrogenic diabetes insipidus (HP:0009806)1.74838180
1673-Methylglutaconic aciduria (HP:0003535)1.74340645
168Medial flaring of the eyebrow (HP:0010747)1.73805716
169Pelvic girdle muscle weakness (HP:0003749)1.72175923
170Abnormal neuron morphology (HP:0012757)1.71979018
171Abnormality of the motor neurons (HP:0002450)1.71979018
172Gonadotropin excess (HP:0000837)1.71173872
173Chromosomal breakage induced by crosslinking agents (HP:0003221)1.70717415
174Cutis marmorata (HP:0000965)1.70441258
175IgA deficiency (HP:0002720)1.69959603
176Abnormality of chromosome stability (HP:0003220)1.69212268
177Aplasia/Hypoplasia of the spleen (HP:0010451)1.67389838
178Recurrent sinusitis (HP:0011108)1.67333179
179Missing ribs (HP:0000921)1.63893929
180Slow-growing hair (HP:0002217)1.61806695
181Abnormality of hair growth rate (HP:0011363)1.61806695
182Taurodontia (HP:0000679)1.61653177
183Recurrent skin infections (HP:0001581)1.60327217
184Acute myeloid leukemia (HP:0004808)1.59533206
185Pulmonary artery stenosis (HP:0004415)1.59360441
186Elevated erythrocyte sedimentation rate (HP:0003565)1.58747033
187Abnormal number of erythroid precursors (HP:0012131)1.57591988
188Lymphoma (HP:0002665)1.57554850
189Abnormality of T cell physiology (HP:0011840)1.56905109
190Easy fatigability (HP:0003388)1.56538827
191Abnormality of the heme biosynthetic pathway (HP:0010472)1.53360236

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PNCK9.75391781
2MET4.25364376
3SIK23.88958966
4SIK33.55960914
5TXK3.47967287
6PDK33.44289491
7PDK43.44289491
8MAP4K13.40417376
9STK38L3.24604863
10CAMK1G3.04013310
11FGFR32.62904678
12PTK2B2.59918533
13OXSR12.54584013
14EEF2K2.49685917
15BMX2.48840418
16FGR2.42243973
17SIK12.18349609
18PDK22.12354330
19ZAP702.09544906
20NEK92.07106821
21TEC2.05821622
22SYK2.01742229
23BTK2.01499878
24BCKDK1.99850612
25CLK11.87627507
26MUSK1.77735110
27YES11.70039831
28STK381.69941602
29NME21.68764866
30PLK21.64284235
31MAP3K141.63286503
32HCK1.60814830
33MARK21.60787830
34MAP3K71.48397115
35TTK1.43904315
36RET1.40585573
37PLK41.37542611
38GRK61.37050572
39EIF2AK31.33552311
40JAK31.32806463
41KIT1.29887933
42ITK1.29692598
43PASK1.26121652
44LCK1.24802338
45BRAF1.22904278
46FLT31.22428818
47CSF1R1.21323718
48MAP3K131.20891937
49RPS6KB21.20800725
50PIM11.20253848
51TIE11.20011328
52NEK21.17740679
53PDK11.15621165
54MARK31.14832582
55CAMK11.13142715
56NEK11.10809549
57CAMKK21.06844120
58STK241.05860672
59PLK11.04964183
60STK161.04360574
61TGFBR11.03964717
62MAPK71.02023962
63WEE10.95404215
64FES0.94646480
65PRKCI0.93296343
66CDK190.85770644
67PDGFRA0.85418247
68NLK0.84967478
69MAPK40.84546538
70CHEK10.83666289
71RPS6KB10.83102457
72AKT30.80405710
73MAP3K50.80019907
74TAOK30.80016658
75PTK20.78556804
76STK110.78153015
77MOS0.77819844
78CDK30.77293599
79MAP3K90.76774909
80RPS6KA40.74952375
81EGFR0.74314638
82CAMK40.74008763
83LYN0.73609939
84PINK10.72765093
85DYRK30.72661045
86ARAF0.72632451
87KSR10.71820061
88ATR0.71579807
89SGK10.71343698
90BRD40.70993588
91HIPK20.70962500
92TNIK0.70634196
93CSNK1G10.70352936
94TYK20.70296517
95CASK0.70011573
96IKBKE0.68644442
97DYRK1B0.67804834
98PDGFRB0.67430851
99MST1R0.65559662
100PRKCQ0.65387081
101MAPK120.65162289
102MAP2K20.65119014
103IKBKB0.64551743
104TNK20.63549519
105LRRK20.60565237
106MAP3K20.59564258
107CSK0.58364655
108CSNK1G30.56057005
109CSNK1A1L0.54666380
110ZAK0.54607201
111CDK60.54555783
112RPS6KA60.54357481
113MATK0.54137870
114MAPKAPK50.53695304
115TGFBR20.52133795
116VRK10.50999452
117RIPK40.50277698
118MAP3K100.47929741
119MAPK30.46966714
120MELK0.46705618
121STK100.46496961
122TSSK60.46455159
123MKNK20.46181203
124CHUK0.45729648
125FYN0.44685837
126AURKA0.43041003
127RPS6KL10.42563174
128RPS6KC10.42563174
129CCNB10.42452269
130FGFR10.42448629
131PDPK10.41317422
132MAP3K40.40553346
133TLK10.39546743
134CDK11A0.38738852
135TYRO30.38566193
136WNK10.38558250
137NEK60.37464570
138RPS6KA50.37454418
139ABL10.37183340
140MKNK10.37110869
141MAPK130.36900086
142CDK40.35839796
143PKN20.34960270
144FGFR40.34445676
145CSNK1E0.34410578
146STK40.33176484
147KSR20.30463150
148MAPKAPK20.30421598
149RPS6KA20.30082228
150MAPK110.30067819
151JAK20.29572880
152ATM0.28530909
153GRK70.28495823
154BRSK10.28452767
155ROCK10.28197507
156SRPK10.28091062
157CDK20.26857644
158IGF1R0.25192294
159DYRK1A0.25004966
160CDK10.24998055
161PRKDC0.20610774
162ACVR1B0.19511409
163TAOK10.19191612
164CDK50.15528224
165RAF10.14001257
166CDK150.13210494
167EPHA40.13179964
168RPS6KA10.12205384
169LIMK10.11636530
170PTK60.10230132
171AKT20.09846419
172MAPK10.09526478
173CDK180.09476373
174PRKACB0.08930042
175LATS10.08559066
176CSNK2A10.08535444
177SGK20.06886709
178CSNK2A20.06810595

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053407.65080219
2Sulfur relay system_Homo sapiens_hsa041224.59686604
3Antigen processing and presentation_Homo sapiens_hsa046123.72944946
4Ubiquitin mediated proteolysis_Homo sapiens_hsa041203.12320186
5T cell receptor signaling pathway_Homo sapiens_hsa046603.06521713
6RNA transport_Homo sapiens_hsa030133.01176872
7Progesterone-mediated oocyte maturation_Homo sapiens_hsa049142.98184666
8Nucleotide excision repair_Homo sapiens_hsa034202.94996701
9Ribosome_Homo sapiens_hsa030102.92321292
10Regulation of autophagy_Homo sapiens_hsa041402.49022334
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.23019804
12Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.19601046
13Propanoate metabolism_Homo sapiens_hsa006402.04700753
14Hematopoietic cell lineage_Homo sapiens_hsa046401.96471834
15Selenocompound metabolism_Homo sapiens_hsa004501.91516624
16African trypanosomiasis_Homo sapiens_hsa051431.91456528
17B cell receptor signaling pathway_Homo sapiens_hsa046621.91036785
18NF-kappa B signaling pathway_Homo sapiens_hsa040641.84489186
19beta-Alanine metabolism_Homo sapiens_hsa004101.77798024
20Measles_Homo sapiens_hsa051621.74244175
21Herpes simplex infection_Homo sapiens_hsa051681.67771849
22Lysine degradation_Homo sapiens_hsa003101.59705781
23Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.58419907
24Non-homologous end-joining_Homo sapiens_hsa034501.57060346
25Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.55220726
26Phenylalanine metabolism_Homo sapiens_hsa003601.54746238
27RNA degradation_Homo sapiens_hsa030181.52331144
28Proteasome_Homo sapiens_hsa030501.47392507
29mTOR signaling pathway_Homo sapiens_hsa041501.44612398
30Platelet activation_Homo sapiens_hsa046111.38422055
31Sphingolipid metabolism_Homo sapiens_hsa006001.29642823
32Small cell lung cancer_Homo sapiens_hsa052221.28814281
33Glucagon signaling pathway_Homo sapiens_hsa049221.26188575
34Basal transcription factors_Homo sapiens_hsa030221.25908277
35Transcriptional misregulation in cancer_Homo sapiens_hsa052021.20812326
36Acute myeloid leukemia_Homo sapiens_hsa052211.17463249
37Carbohydrate digestion and absorption_Homo sapiens_hsa049731.14778100
38Pentose phosphate pathway_Homo sapiens_hsa000301.14412971
39Renin secretion_Homo sapiens_hsa049241.11466480
40Osteoclast differentiation_Homo sapiens_hsa043801.11413611
41Long-term potentiation_Homo sapiens_hsa047201.11372919
42Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.11372560
43ErbB signaling pathway_Homo sapiens_hsa040121.10813860
44Leukocyte transendothelial migration_Homo sapiens_hsa046701.10683989
45Other glycan degradation_Homo sapiens_hsa005111.09558158
46Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.01614098
47Spliceosome_Homo sapiens_hsa030401.01046730
48Choline metabolism in cancer_Homo sapiens_hsa052310.95465174
49Jak-STAT signaling pathway_Homo sapiens_hsa046300.94560205
50p53 signaling pathway_Homo sapiens_hsa041150.93214138
51Shigellosis_Homo sapiens_hsa051310.92250143
52Chemokine signaling pathway_Homo sapiens_hsa040620.89791437
53Phosphatidylinositol signaling system_Homo sapiens_hsa040700.88987766
54SNARE interactions in vesicular transport_Homo sapiens_hsa041300.88461263
55Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.88015042
56ABC transporters_Homo sapiens_hsa020100.87216939
57Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.86048927
58Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.85477435
59Fanconi anemia pathway_Homo sapiens_hsa034600.85206612
60Inositol phosphate metabolism_Homo sapiens_hsa005620.83762684
61Fatty acid biosynthesis_Homo sapiens_hsa000610.80424926
62Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.79762628
63Aldosterone synthesis and secretion_Homo sapiens_hsa049250.79152373
64Leishmaniasis_Homo sapiens_hsa051400.78745996
65Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.78641537
66HTLV-I infection_Homo sapiens_hsa051660.78049048
67VEGF signaling pathway_Homo sapiens_hsa043700.76621716
68Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.76417083
69Chronic myeloid leukemia_Homo sapiens_hsa052200.75979251
70Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.73874836
71Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.72261191
72RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.71786042
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.69773218
74Prostate cancer_Homo sapiens_hsa052150.68721066
75Hepatitis B_Homo sapiens_hsa051610.68249519
76Dorso-ventral axis formation_Homo sapiens_hsa043200.66434685
77Thyroid cancer_Homo sapiens_hsa052160.63833565
78Influenza A_Homo sapiens_hsa051640.63243180
79DNA replication_Homo sapiens_hsa030300.63235180
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.62203895
81Pyruvate metabolism_Homo sapiens_hsa006200.62089193
82Rheumatoid arthritis_Homo sapiens_hsa053230.57261191
83Linoleic acid metabolism_Homo sapiens_hsa005910.56907236
84Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.56264483
85Type II diabetes mellitus_Homo sapiens_hsa049300.56191461
86Neurotrophin signaling pathway_Homo sapiens_hsa047220.54491853
87NOD-like receptor signaling pathway_Homo sapiens_hsa046210.54298452
88Mismatch repair_Homo sapiens_hsa034300.52971451
89Fatty acid metabolism_Homo sapiens_hsa012120.51721385
90Phototransduction_Homo sapiens_hsa047440.50949941
91Taste transduction_Homo sapiens_hsa047420.50736667
92Central carbon metabolism in cancer_Homo sapiens_hsa052300.50458361
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.50448142
94FoxO signaling pathway_Homo sapiens_hsa040680.50184576
95Non-small cell lung cancer_Homo sapiens_hsa052230.49188400
96Base excision repair_Homo sapiens_hsa034100.48698019
97Wnt signaling pathway_Homo sapiens_hsa043100.48141290
98Legionellosis_Homo sapiens_hsa051340.47820779
99Circadian entrainment_Homo sapiens_hsa047130.46398672
100Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.45960787
101Huntingtons disease_Homo sapiens_hsa050160.45327493
102Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.44918659
103Allograft rejection_Homo sapiens_hsa053300.44790180
104Fatty acid degradation_Homo sapiens_hsa000710.44357193
105Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.44119644
106Melanogenesis_Homo sapiens_hsa049160.43074138
107MAPK signaling pathway_Homo sapiens_hsa040100.42206436
108alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.42069223
109Homologous recombination_Homo sapiens_hsa034400.41978451
110Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40791937
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40505455
112Gastric acid secretion_Homo sapiens_hsa049710.38529511
113Endometrial cancer_Homo sapiens_hsa052130.38446437
114Retinol metabolism_Homo sapiens_hsa008300.38265218
115Salivary secretion_Homo sapiens_hsa049700.37699150
116Ether lipid metabolism_Homo sapiens_hsa005650.36580941
117Cysteine and methionine metabolism_Homo sapiens_hsa002700.36378891
118TGF-beta signaling pathway_Homo sapiens_hsa043500.36007575
119Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.35734115
120Circadian rhythm_Homo sapiens_hsa047100.35559898
121AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.35061702
122Pyrimidine metabolism_Homo sapiens_hsa002400.34870390
123mRNA surveillance pathway_Homo sapiens_hsa030150.33826986
124Tyrosine metabolism_Homo sapiens_hsa003500.32684875
125Calcium signaling pathway_Homo sapiens_hsa040200.31427612
126Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.30696178
127Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30573679
128Salmonella infection_Homo sapiens_hsa051320.29929974
129Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29294663
130Graft-versus-host disease_Homo sapiens_hsa053320.28372751
131N-Glycan biosynthesis_Homo sapiens_hsa005100.28090130
132Thyroid hormone synthesis_Homo sapiens_hsa049180.27943168
133Vascular smooth muscle contraction_Homo sapiens_hsa042700.26139280
134Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.26051965
135Cell cycle_Homo sapiens_hsa041100.24285823
136Epstein-Barr virus infection_Homo sapiens_hsa051690.23744988
137Adherens junction_Homo sapiens_hsa045200.23569658
138Drug metabolism - other enzymes_Homo sapiens_hsa009830.23360802
139Apoptosis_Homo sapiens_hsa042100.22917280
140Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.22626420
141Oxytocin signaling pathway_Homo sapiens_hsa049210.22323495
142Maturity onset diabetes of the young_Homo sapiens_hsa049500.22281277
143Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.22149797
144Glutamatergic synapse_Homo sapiens_hsa047240.21982409
145Amoebiasis_Homo sapiens_hsa051460.21830273
146Insulin resistance_Homo sapiens_hsa049310.21568429
147Notch signaling pathway_Homo sapiens_hsa043300.21120858
148Hedgehog signaling pathway_Homo sapiens_hsa043400.20997969
149Viral carcinogenesis_Homo sapiens_hsa052030.20821831
150Adipocytokine signaling pathway_Homo sapiens_hsa049200.19876495
151Pathways in cancer_Homo sapiens_hsa052000.19500509
152Oocyte meiosis_Homo sapiens_hsa041140.18925521
153cGMP-PKG signaling pathway_Homo sapiens_hsa040220.18899742
154Vitamin digestion and absorption_Homo sapiens_hsa049770.17534850
155Glycerolipid metabolism_Homo sapiens_hsa005610.15197830
156Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.13504675
157Melanoma_Homo sapiens_hsa052180.11630510
158Pancreatic cancer_Homo sapiens_hsa052120.09918888
159Prolactin signaling pathway_Homo sapiens_hsa049170.09819545
160AMPK signaling pathway_Homo sapiens_hsa041520.09412666
161Focal adhesion_Homo sapiens_hsa045100.05501252

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