SETX

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





Description: This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fusion of sperm to egg plasma membrane (GO:0007342)9.26216338
2synaptonemal complex organization (GO:0070193)9.18143421
3synaptonemal complex assembly (GO:0007130)8.70929931
4axonemal dynein complex assembly (GO:0070286)8.55752030
5DNA methylation involved in gamete generation (GO:0043046)8.07868885
6acrosome assembly (GO:0001675)8.05247991
7sperm motility (GO:0030317)7.85672933
8sperm-egg recognition (GO:0035036)7.72196601
9binding of sperm to zona pellucida (GO:0007339)7.46323924
10epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.21750936
11multicellular organism reproduction (GO:0032504)7.07519676
12spermatid development (GO:0007286)6.99990586
13cell-cell recognition (GO:0009988)6.97504543
14plasma membrane fusion (GO:0045026)6.94678722
15male meiosis I (GO:0007141)6.90275001
16motile cilium assembly (GO:0044458)6.82749375
17epithelial cilium movement (GO:0003351)6.80997336
18nuclear pore complex assembly (GO:0051292)6.55907924
19chromosome organization involved in meiosis (GO:0070192)6.47986198
20cilium movement (GO:0003341)6.35258649
21meiotic nuclear division (GO:0007126)6.20761707
22acrosome reaction (GO:0007340)6.01693613
23meiosis I (GO:0007127)5.72241842
24positive regulation of gamma-delta T cell activation (GO:0046645)5.71074381
25nuclear pore organization (GO:0006999)5.65130762
26gene silencing by RNA (GO:0031047)5.64026738
27reproduction (GO:0000003)5.61270812
28mitochondrion distribution (GO:0048311)5.35428029
29histone-serine phosphorylation (GO:0035404)5.25478685
30meiotic cell cycle (GO:0051321)5.22211888
31regulation of meiosis I (GO:0060631)5.14237895
32negative regulation of inclusion body assembly (GO:0090084)5.06667175
33pore complex assembly (GO:0046931)5.03201547
34regulation of B cell receptor signaling pathway (GO:0050855)4.97364790
35monoubiquitinated protein deubiquitination (GO:0035520)4.92569595
36regulation of cilium movement (GO:0003352)4.90908514
37regulation of protein polyubiquitination (GO:1902914)4.76476296
38single fertilization (GO:0007338)4.76204532
39fertilization (GO:0009566)4.73224598
40signal peptide processing (GO:0006465)4.70307443
41negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.64429465
42negative regulation of cell killing (GO:0031342)4.64429465
43regulation of nitric-oxide synthase biosynthetic process (GO:0051769)4.60015427
44germ cell development (GO:0007281)4.58161600
45genitalia morphogenesis (GO:0035112)4.54593354
46seminiferous tubule development (GO:0072520)4.52042284
47negative regulation of DNA repair (GO:0045738)4.50007053
48negative thymic T cell selection (GO:0045060)4.45344708
49regulation of centriole replication (GO:0046599)4.44072707
50negative T cell selection (GO:0043383)4.42045797
51ventricular system development (GO:0021591)4.40773339
52cellular process involved in reproduction in multicellular organism (GO:0022412)4.40538173
53spermatogenesis (GO:0007283)4.38717764
54male gamete generation (GO:0048232)4.37566259
55cell wall macromolecule metabolic process (GO:0044036)4.37264444
56cell wall macromolecule catabolic process (GO:0016998)4.37264444
57mitotic sister chromatid cohesion (GO:0007064)4.36165096
58meiotic cell cycle process (GO:1903046)4.35445116
59cellular extravasation (GO:0045123)4.32624113
60antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.27169214
61regulation of histone H3-K9 methylation (GO:0051570)4.25520350
62detection of molecule of bacterial origin (GO:0032490)4.24946899
63protein localization to cilium (GO:0061512)4.12574190
64phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)4.09404078
65B cell receptor signaling pathway (GO:0050853)4.08299850
66translesion synthesis (GO:0019985)4.04195490
67gamete generation (GO:0007276)4.03504177
68regulation of gamma-delta T cell activation (GO:0046643)4.02491141
69positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.99737946
70synapsis (GO:0007129)3.96095913
71DNA methylation (GO:0006306)3.93069108
72DNA alkylation (GO:0006305)3.93069108
73gene silencing (GO:0016458)3.91773853
74negative regulation of organelle assembly (GO:1902116)3.85760313
75regulation of gamma-delta T cell differentiation (GO:0045586)3.84508052
76modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.77965415
77positive regulation by organism of defense response of other organism involved in symbiotic interact3.77965415
78modulation by symbiont of host immune response (GO:0052553)3.77965415
79positive regulation by symbiont of host defense response (GO:0052509)3.77965415
80modulation by symbiont of host defense response (GO:0052031)3.77965415
81modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.77965415
82sperm capacitation (GO:0048240)3.75624309
83negative regulation of activin receptor signaling pathway (GO:0032926)3.73522518
84regulation of inclusion body assembly (GO:0090083)3.65190347
85sister chromatid cohesion (GO:0007062)3.61774835
86intraciliary transport (GO:0042073)3.56032955
87negative regulation of T cell mediated immunity (GO:0002710)3.56004103
88macrophage activation involved in immune response (GO:0002281)3.54904950
89regulation of RNA export from nucleus (GO:0046831)3.53826382
90histone H3-K36 demethylation (GO:0070544)3.53364425
91regulation of chromatin binding (GO:0035561)3.52235876
92chaperone-mediated protein complex assembly (GO:0051131)3.49390190
93cellular response to ethanol (GO:0071361)3.46893330
94antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.44329690
95microglial cell activation (GO:0001774)3.43611722
96microtubule depolymerization (GO:0007019)3.42737653
97positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.41107456
98regulation of macrophage cytokine production (GO:0010935)3.40662612
99hepatocyte apoptotic process (GO:0097284)3.40107095
100DNA replication-dependent nucleosome assembly (GO:0006335)3.39616098
101DNA replication-dependent nucleosome organization (GO:0034723)3.39616098
102antigen processing and presentation of endogenous antigen (GO:0019883)3.31223302
103detection of external biotic stimulus (GO:0098581)3.27917198
104histone mRNA catabolic process (GO:0071044)3.27084288
105regulation of transforming growth factor beta2 production (GO:0032909)3.23751593
106response to host immune response (GO:0052572)3.22289498
107response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.22289498
108nucleus organization (GO:0006997)3.21203672
109histone phosphorylation (GO:0016572)3.20623498
110histone exchange (GO:0043486)3.20444724
111cell recognition (GO:0008037)3.19936782
112regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.18397829
113antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.16293669
114heterochromatin organization (GO:0070828)3.15262807
115regulation of interferon-beta biosynthetic process (GO:0045357)3.15003001
116multicellular organismal reproductive process (GO:0048609)3.14349307
117detection of other organism (GO:0098543)3.14140251
118response to interleukin-15 (GO:0070672)3.12339459
119microtubule severing (GO:0051013)3.11928090
120positive T cell selection (GO:0043368)3.11749099
121regulation of centrosome cycle (GO:0046605)3.11581427
122positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.10137743
123DNA methylation or demethylation (GO:0044728)3.10028559
124response to host (GO:0075136)3.08290284
125response to host defenses (GO:0052200)3.08290284
126response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.08290284
127spindle assembly involved in mitosis (GO:0090307)3.07348867
128microtubule-based movement (GO:0007018)3.07276104
129T cell selection (GO:0045058)3.05728489
130regulation of chemokine-mediated signaling pathway (GO:0070099)3.05712734
131pathway-restricted SMAD protein phosphorylation (GO:0060389)3.02631437
132macrophage activation (GO:0042116)3.00656358
133citrulline metabolic process (GO:0000052)2.99826178
134regulation of microtubule-based movement (GO:0060632)2.99801877
135replicative senescence (GO:0090399)2.99730640
136neutrophil mediated immunity (GO:0002446)2.98782605
137positive regulation of granulocyte differentiation (GO:0030854)2.97893692
138regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.97626918
139negative regulation of lymphocyte mediated immunity (GO:0002707)2.97234258
140protein localization to chromosome, centromeric region (GO:0071459)2.97064280
141DNA packaging (GO:0006323)2.95642491
142interferon-gamma production (GO:0032609)2.94552682
143positive thymic T cell selection (GO:0045059)2.94333115
144centriole replication (GO:0007099)2.93193478
145regulation of nucleobase-containing compound transport (GO:0032239)2.92484158
146mitotic sister chromatid segregation (GO:0000070)2.90971067
147mitotic chromosome condensation (GO:0007076)2.90515948
148sister chromatid segregation (GO:0000819)2.89791839
149chromosome condensation (GO:0030261)2.88385813
150T cell migration (GO:0072678)2.87800552
151cellular response to interleukin-15 (GO:0071350)2.86466507
152thymic T cell selection (GO:0045061)2.86007950
153regulation of spindle checkpoint (GO:0090231)2.85015632
154left/right pattern formation (GO:0060972)2.84995499
155negative regulation of B cell proliferation (GO:0030889)2.84779285
156detection of biotic stimulus (GO:0009595)2.84398414
157regulation of B cell differentiation (GO:0045577)2.84341277
158protein prenylation (GO:0018342)2.81036422
159prenylation (GO:0097354)2.81036422
160regulation of alkaline phosphatase activity (GO:0010692)2.80730070
161positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.79383122
162positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.79383122
163positive regulation of mitotic sister chromatid separation (GO:1901970)2.79383122
164axoneme assembly (GO:0035082)2.79188774
165lactate metabolic process (GO:0006089)2.78119801
166centrosome localization (GO:0051642)2.77219839
167myeloid leukocyte mediated immunity (GO:0002444)2.76763647
168protein polyglutamylation (GO:0018095)2.76661689
169positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.76330993
170histone H3-K9 methylation (GO:0051567)2.74649777
171response to muramyl dipeptide (GO:0032495)2.74167789
172B cell proliferation (GO:0042100)2.73711697
173dendritic cell migration (GO:0036336)2.73347848
174negative regulation of interleukin-12 production (GO:0032695)2.72854049
175neutrophil activation involved in immune response (GO:0002283)2.71551107
176establishment of protein localization to Golgi (GO:0072600)2.68171864
177negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.68034200
178positive regulation of B cell differentiation (GO:0045579)2.65438993
179myeloid cell activation involved in immune response (GO:0002275)2.62619924
180protein targeting to Golgi (GO:0000042)2.62015369
181positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.59788277
182mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.59788277
183detection of bacterium (GO:0016045)2.59356696
184histone H3-K4 trimethylation (GO:0080182)2.58622410
185production of molecular mediator involved in inflammatory response (GO:0002532)2.57533639
186negative regulation of keratinocyte proliferation (GO:0010839)2.57093373
187leukocyte aggregation (GO:0070486)2.56731728
188regulation of alpha-beta T cell proliferation (GO:0046640)2.56283822
189antigen processing and presentation via MHC class Ib (GO:0002475)2.54692580
190positive regulation of interferon-alpha production (GO:0032727)2.53775314
191positive regulation of interferon-beta production (GO:0032728)2.53120292
192retrograde transport, vesicle recycling within Golgi (GO:0000301)2.52964750
193regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.52952796
194mitochondrion localization (GO:0051646)2.50981170
195histamine secretion (GO:0001821)2.50525355
196cilium or flagellum-dependent cell motility (GO:0001539)15.5345829
197piRNA metabolic process (GO:0034587)12.1874324
198male meiosis (GO:0007140)10.1492854

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.10320454
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.96876826
3EZH2_22144423_ChIP-Seq_EOC_Human4.82544001
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.61244830
5IRF8_22096565_ChIP-ChIP_GC-B_Human4.13005531
6SMAD_19615063_ChIP-ChIP_OVARY_Human3.86973836
7STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.74002633
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.72062245
9GATA1_22025678_ChIP-Seq_K562_Human3.13766150
10SALL1_21062744_ChIP-ChIP_HESCs_Human3.12011984
11TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.86476868
12STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.82316184
13RUNX_20019798_ChIP-Seq_JUKART_Human2.73434631
14* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.70528757
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.57473715
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.48305459
17IRF8_21731497_ChIP-ChIP_J774_Mouse2.47863869
18IRF8_27001747_Chip-Seq_BMDM_Mouse2.35189211
19STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.32815114
20CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.31555834
21* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.31531279
22SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.26253335
23MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.25555858
24RBPJ_22232070_ChIP-Seq_NCS_Mouse2.23707326
25NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.21624123
26IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.19454108
27* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.14031291
28Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.10878592
29MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse12.3178059
30IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.98680702
31ZNF274_21170338_ChIP-Seq_K562_Hela1.97682522
32NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.94038859
33VDR_24787735_ChIP-Seq_THP-1_Human1.91526120
34GATA1_26923725_Chip-Seq_HPCs_Mouse1.88674646
35FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.88324356
36ELK4_26923725_Chip-Seq_MESODERM_Mouse1.83725782
37SCL_19346495_ChIP-Seq_HPC-7_Human1.81366572
38FLI1_27457419_Chip-Seq_LIVER_Mouse1.78214101
39PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.74004588
40GATA2_21666600_ChIP-Seq_HMVEC_Human1.68082277
41FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.57921801
42* NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.56056808
43AR_21909140_ChIP-Seq_LNCAP_Human1.54311792
44BP1_19119308_ChIP-ChIP_Hs578T_Human1.51205935
45SPI1_23127762_ChIP-Seq_K562_Human1.50815376
46TP53_16413492_ChIP-PET_HCT116_Human1.48615441
47VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.47558704
48MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.47028235
49CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.46945918
50* SPI1_23547873_ChIP-Seq_NB4_Human1.45982820
51MYCN_18555785_ChIP-Seq_MESCs_Mouse1.44977348
52RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.44964190
53ESR1_20079471_ChIP-ChIP_T-47D_Human1.42226348
54* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.41935784
55ZNF217_24962896_ChIP-Seq_MCF-7_Human1.40859887
56PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.40821038
57PCGF2_27294783_Chip-Seq_ESCs_Mouse1.38489220
58SALL4_18804426_ChIP-ChIP_XEN_Mouse1.36950135
59GATA3_27048872_Chip-Seq_THYMUS_Human1.35856751
60CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35191956
61POU3F2_20337985_ChIP-ChIP_501MEL_Human1.34384685
62EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.31631029
63SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.24314981
64PCGF2_27294783_Chip-Seq_NPCs_Mouse1.23976578
65FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.23818798
66FOXO3_23340844_ChIP-Seq_DLD1_Human1.23430580
67PU_27001747_Chip-Seq_BMDM_Mouse1.23416896
68ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.22502656
69FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.21881817
70SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.20785335
71E2F1_21310950_ChIP-Seq_MCF-7_Human1.20768748
72OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20390758
73RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18577216
74GATA3_26560356_Chip-Seq_TH2_Human1.17209385
75CTNNB1_20460455_ChIP-Seq_HCT116_Human1.14651007
76FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.14076888
77ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.11167786
78STAT4_19710469_ChIP-ChIP_TH1__Mouse1.10787249
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.10433606
80AHR_22903824_ChIP-Seq_MCF-7_Human1.08785527
81TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.08260247
82* WDR5_24793694_ChIP-Seq_LNCAP_Human1.08047520
83GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.07791163
84RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07581232
85PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.07570563
86BRD4_27068464_Chip-Seq_AML-cells_Mouse1.07366618
87* E2F1_18555785_Chip-Seq_ESCs_Mouse1.06459391
88WT1_19549856_ChIP-ChIP_CCG9911_Human1.06266574
89BRD4_25478319_ChIP-Seq_HGPS_Human1.02743824
90* TP63_23658742_ChIP-Seq_EP156T_Human1.01724195
91* NANOG_18555785_Chip-Seq_ESCs_Mouse1.00055994
92CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.99710939
93SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99588303
94NFE2_27457419_Chip-Seq_LIVER_Mouse0.99122773
95MYB_26560356_Chip-Seq_TH1_Human0.99062860
96ARNT_22903824_ChIP-Seq_MCF-7_Human0.98766871
97* STAT3_23295773_ChIP-Seq_U87_Human0.98400692
98GATA2_19941826_ChIP-Seq_K562_Human0.97932485
99* CMYC_18555785_Chip-Seq_ESCs_Mouse0.97771841
100RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.97707382
101ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.97510114
102SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.96070288
103SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.96070288
104NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.96053613
105TAF15_26573619_Chip-Seq_HEK293_Human0.95846100
106NOTCH1_21737748_ChIP-Seq_TLL_Human0.95643416
107TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95165536
108ER_23166858_ChIP-Seq_MCF-7_Human0.95141252
109CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.95025734
110* CDX2_22108803_ChIP-Seq_LS180_Human0.94559232
111IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.93879648
112CBP_20019798_ChIP-Seq_JUKART_Human0.93879648
113GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93520389
114FOXM1_26456572_ChIP-Seq_MCF-7_Human0.93487243
115ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.93313770
116* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.93297779
117* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.93023289
118* P300_18555785_Chip-Seq_ESCs_Mouse0.92913447
119NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.92384704
120NRF2_20460467_ChIP-Seq_MEFs_Mouse0.92384704
121PKCTHETA_26484144_Chip-Seq_BREAST_Human0.91577939
122AR_21572438_ChIP-Seq_LNCaP_Human0.91355893
123VDR_24763502_ChIP-Seq_THP-1_Human0.91138306
124DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.89720122
125KDM5A_27292631_Chip-Seq_BREAST_Human0.88848486
126KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88788652
127MAF_26560356_Chip-Seq_TH1_Human0.88787649
128TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.88254461
129NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.87541572
130P300_19829295_ChIP-Seq_ESCs_Human0.87490831
131KAP1_22055183_ChIP-Seq_ESCs_Mouse0.86916373
132SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.84708391
133GATA3_26560356_Chip-Seq_TH1_Human0.84158156
134POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.83820608
135TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83820608
136POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.83721606
137KLF4_18555785_ChIP-Seq_MESCs_Mouse0.82553578
138PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.82013442
139RUNX1_26923725_Chip-Seq_HPCs_Mouse0.81458464
140CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.80635448
141SUZ12_27294783_Chip-Seq_NPCs_Mouse0.80273379
142* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.80224765
143LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.79489194
144* TCF4_23295773_ChIP-Seq_U87_Human0.77050444
145PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.76474115
146PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.76189166
147STAT1_17558387_ChIP-Seq_HELA_Human0.73456202
148CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.73084977
149SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.71155733
150STAT6_21828071_ChIP-Seq_BEAS2B_Human0.70186951
151STAT3_1855785_ChIP-Seq_MESCs_Mouse0.69493636
152CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.69402475
153MYB_26560356_Chip-Seq_TH2_Human0.69308990
154DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.68845954
155* ETS1_22383799_ChIP-Seq_G1ME_Mouse0.68358386
156SOX2_22085726_ChIP-Seq_NPCs_Mouse0.67107264
157* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.65711030
158STAT3_18555785_ChIP-Seq_MESCs_Mouse0.65156334
159FLI1_21867929_ChIP-Seq_TH2_Mouse0.64885633
160E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.64090866
161OCT4_21477851_ChIP-Seq_ESCs_Mouse0.63882858
162* OCT4_18555785_Chip-Seq_ESCs_Mouse0.63526003
163PADI4_21655091_ChIP-ChIP_MCF-7_Human0.63413679
164* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.63129855
165MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.62945244
166EGR1_19374776_ChIP-ChIP_THP-1_Human0.62574396
167SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.62546747
168FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.62170675
169* TCF7_22412390_ChIP-Seq_EML_Mouse0.61843143
170TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.61580113
171SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.59460217
172TAL1_26923725_Chip-Seq_HPCs_Mouse0.59434386
173CRX_20693478_ChIP-Seq_RETINA_Mouse0.59341754
174* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.58885645
175GF1_26923725_Chip-Seq_HPCs_Mouse0.58773996
176EZH2_27294783_Chip-Seq_NPCs_Mouse0.58268702
177GATA3_21867929_ChIP-Seq_CD8_Mouse0.57840931

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization9.94673898
2MP0008877_abnormal_DNA_methylation7.18367288
3MP0008057_abnormal_DNA_replication5.06651211
4MP0001929_abnormal_gametogenesis4.65589804
5MP0003698_abnormal_male_reproductive4.65320700
6MP0002210_abnormal_sex_determination3.90088530
7MP0001145_abnormal_male_reproductive3.25781372
8MP0001835_abnormal_antigen_presentation3.25593993
9MP0010094_abnormal_chromosome_stability3.20126393
10MP0002653_abnormal_ependyma_morphology3.19663270
11MP0003724_increased_susceptibility_to2.88638820
12MP0000653_abnormal_sex_gland2.79965667
13MP0002161_abnormal_fertility/fecundity2.57876434
14MP0001800_abnormal_humoral_immune2.35802075
15MP0008007_abnormal_cellular_replicative2.30528220
16MP0003111_abnormal_nucleus_morphology2.26512426
17MP0000685_abnormal_immune_system2.25261172
18MP0005623_abnormal_meninges_morphology2.24951898
19MP0008058_abnormal_DNA_repair2.23354596
20MP0005387_immune_system_phenotype2.11432484
21MP0001790_abnormal_immune_system2.11432484
22MP0000569_abnormal_digit_pigmentation2.07801604
23MP0003436_decreased_susceptibility_to2.01769530
24MP0003077_abnormal_cell_cycle2.01573962
25MP0003303_peritoneal_inflammation2.01002742
26MP0010307_abnormal_tumor_latency1.98599068
27MP0003786_premature_aging1.98038017
28MP0002160_abnormal_reproductive_system1.91684473
29MP0005671_abnormal_response_to1.90857747
30MP0005000_abnormal_immune_tolerance1.88771337
31MP0003183_abnormal_peptide_metabolism1.86992445
32MP0008260_abnormal_autophagy1.86973602
33MP0005310_abnormal_salivary_gland1.85043893
34MP0002723_abnormal_immune_serum1.85028133
35MP0000015_abnormal_ear_pigmentation1.84803369
36MP0002452_abnormal_antigen_presenting1.84229965
37MP0002419_abnormal_innate_immunity1.82538900
38MP0002420_abnormal_adaptive_immunity1.79496840
39MP0001819_abnormal_immune_cell1.77235387
40MP0006082_CNS_inflammation1.73654377
41MP0003828_pulmonary_edema1.67388280
42MP0003656_abnormal_erythrocyte_physiolo1.67377866
43MP0004883_abnormal_blood_vessel1.60056760
44MP0004808_abnormal_hematopoietic_stem1.59353882
45MP0003091_abnormal_cell_migration1.57896982
46MP0002405_respiratory_system_inflammati1.56327125
47MP0005025_abnormal_response_to1.53252747
48MP0001730_embryonic_growth_arrest1.52030999
49MP0005076_abnormal_cell_differentiation1.50402837
50MP0000716_abnormal_immune_system1.49905455
51MP0004381_abnormal_hair_follicle1.46021351
52MP0003693_abnormal_embryo_hatching1.45679867
53MP0002006_tumorigenesis1.45198406
54MP0004947_skin_inflammation1.44995582
55MP0008995_early_reproductive_senescence1.43964480
56MP0005464_abnormal_platelet_physiology1.42863379
57MP0005409_darkened_coat_color1.39619822
58MP0004957_abnormal_blastocyst_morpholog1.39183410
59MP0010368_abnormal_lymphatic_system1.36610195
60MP0009785_altered_susceptibility_to1.36400530
61MP0000465_gastrointestinal_hemorrhage1.36377105
62MP0010352_gastrointestinal_tract_polyps1.32808769
63MP0003690_abnormal_glial_cell1.31514065
64MP0003866_abnormal_defecation1.28083172
65MP0010155_abnormal_intestine_physiology1.27884290
66MP0002722_abnormal_immune_system1.25499393
67MP0002148_abnormal_hypersensitivity_rea1.23586187
68MP0005174_abnormal_tail_pigmentation1.23179684
69MP0000689_abnormal_spleen_morphology1.23168752
70MP0002163_abnormal_gland_morphology1.22493510
71MP0005451_abnormal_body_composition1.21461730
72MP0001879_abnormal_lymphatic_vessel1.20017957
73MP0002084_abnormal_developmental_patter1.19931561
74MP0003172_abnormal_lysosome_physiology1.16401417
75MP0004134_abnormal_chest_morphology1.13778417
76MP0002429_abnormal_blood_cell1.13429180
77MP0005647_abnormal_sex_gland1.13028942
78MP0009278_abnormal_bone_marrow1.11416089
79MP0002876_abnormal_thyroid_physiology1.10576565
80MP0005380_embryogenesis_phenotype1.10565728
81MP0001672_abnormal_embryogenesis/_devel1.10565728
82MP0005389_reproductive_system_phenotype1.09498327
83MP0006054_spinal_hemorrhage1.08765464
84MP0001845_abnormal_inflammatory_respons1.06640209
85MP0003252_abnormal_bile_duct1.05207928
86MP0000350_abnormal_cell_proliferation1.04975158
87MP0005397_hematopoietic_system_phenotyp1.04727359
88MP0001545_abnormal_hematopoietic_system1.04727359
89MP0003566_abnormal_cell_adhesion1.04483468
90MP0005266_abnormal_metabolism1.01729573
91MP0003890_abnormal_embryonic-extraembry1.01581603
92MP0004197_abnormal_fetal_growth/weight/1.00930115
93MP0001697_abnormal_embryo_size0.99911503
94MP0005164_abnormal_response_to0.99831869
95MP0003787_abnormal_imprinting0.98687004
96MP0003984_embryonic_growth_retardation0.97870300
97MP0003763_abnormal_thymus_physiology0.97812368
98MP0001851_eye_inflammation0.97554653
99MP0002282_abnormal_trachea_morphology0.97303454
100MP0002088_abnormal_embryonic_growth/wei0.95130543
101MP0002085_abnormal_embryonic_tissue0.91871239
102MP0002086_abnormal_extraembryonic_tissu0.91155612
103MP0005075_abnormal_melanosome_morpholog0.89904976
104MP0004233_abnormal_muscle_weight0.89063856
105MP0003221_abnormal_cardiomyocyte_apopto0.87936491
106MP0004484_altered_response_of0.87314312
107MP0001348_abnormal_lacrimal_gland0.86936283
108MP0000427_abnormal_hair_cycle0.85933379
109MP0002080_prenatal_lethality0.84652291
110MP0001533_abnormal_skeleton_physiology0.84262255
111MP0001293_anophthalmia0.84197648
112MP0000249_abnormal_blood_vessel0.83825720
113MP0002998_abnormal_bone_remodeling0.83178599
114MP0009053_abnormal_anal_canal0.82281747
115MP0000313_abnormal_cell_death0.81751652
116MP0001853_heart_inflammation0.81427709
117MP0003646_muscle_fatigue0.80462531
118MP0002332_abnormal_exercise_endurance0.77829266
119MP0000537_abnormal_urethra_morphology0.76345532
120MP0004130_abnormal_muscle_cell0.76128558
121MP0005085_abnormal_gallbladder_physiolo0.75800642
122MP0009115_abnormal_fat_cell0.75502271
123MP0000358_abnormal_cell_content/0.75369820
124MP0005376_homeostasis/metabolism_phenot0.74753631
125MP0000371_diluted_coat_color0.74249722
126MP0003878_abnormal_ear_physiology0.74060502
127MP0005377_hearing/vestibular/ear_phenot0.74060502
128MP0001119_abnormal_female_reproductive0.71868644
129MP0005408_hypopigmentation0.71094915
130MP0008932_abnormal_embryonic_tissue0.70098432
131MP0000858_altered_metastatic_potential0.69702454
132MP0008469_abnormal_protein_level0.68334291
133MP0003121_genomic_imprinting0.68122445
134MP0009764_decreased_sensitivity_to0.67857619
135MP0008004_abnormal_stomach_pH0.66299816
136MP0003045_fibrosis0.65773262
137MP0004264_abnormal_extraembryonic_tissu0.65643370
138MP0003699_abnormal_female_reproductive0.65596396
139MP0001873_stomach_inflammation0.64737319
140MP0003950_abnormal_plasma_membrane0.64218629
141MP0002092_abnormal_eye_morphology0.63927337
142MP0003115_abnormal_respiratory_system0.63059304
143MP0002009_preneoplasia0.62972229
144MP0009703_decreased_birth_body0.62827742
145MP0000703_abnormal_thymus_morphology0.61052684
146MP0002019_abnormal_tumor_incidence0.60781658
147MP0003123_paternal_imprinting0.59938923
148MP0003861_abnormal_nervous_system0.56966141
149MP0003705_abnormal_hypodermis_morpholog0.55633348
150MP0005666_abnormal_adipose_tissue0.53220391
151MP0002928_abnormal_bile_duct0.52023532
152MP0001661_extended_life_span0.51835147
153MP0009046_muscle_twitch0.50625751
154MP0009672_abnormal_birth_weight0.49570084
155MP0008961_abnormal_basal_metabolism0.48819533
156MP0000432_abnormal_head_morphology0.48524205
157MP0002396_abnormal_hematopoietic_system0.46550660
158MP0001849_ear_inflammation0.44756548
159MP0002925_abnormal_cardiovascular_devel0.44042662
160MP0000733_abnormal_muscle_development0.43479476
161MP0010234_abnormal_vibrissa_follicle0.43411954
162MP0003936_abnormal_reproductive_system0.43044088
163MP0005391_vision/eye_phenotype0.42792693
164MP0001915_intracranial_hemorrhage0.42508014
165MP0000647_abnormal_sebaceous_gland0.42507753
166MP0005670_abnormal_white_adipose0.40405629
167MP0005384_cellular_phenotype0.39386980
168MP0005621_abnormal_cell_physiology0.39328982
169MP0001727_abnormal_embryo_implantation0.39299856
170MP0001784_abnormal_fluid_regulation0.37656206
171MP0003300_gastrointestinal_ulcer0.37595857
172MP0002398_abnormal_bone_marrow0.36891851
173MP0002697_abnormal_eye_size0.36306669
174MP0002970_abnormal_white_adipose0.33147545
175MP0000266_abnormal_heart_morphology0.32130561
176MP0002166_altered_tumor_susceptibility0.31228292

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)9.85920621
2Absent/shortened dynein arms (HP:0200106)9.85920621
3Abnormal respiratory motile cilium physiology (HP:0012261)7.98715556
4Rhinitis (HP:0012384)7.24103003
5Abnormal respiratory motile cilium morphology (HP:0005938)6.93002768
6Abnormal respiratory epithelium morphology (HP:0012253)6.93002768
7Chronic bronchitis (HP:0004469)6.42935538
8Abnormal ciliary motility (HP:0012262)6.11585896
9Nasal polyposis (HP:0100582)6.09776991
10Infertility (HP:0000789)5.25513544
11Abnormality of the nasal mucosa (HP:0000433)4.94169859
12Abnormality of T cell number (HP:0011839)4.85647566
13Nephronophthisis (HP:0000090)4.57408863
14T lymphocytopenia (HP:0005403)4.54221311
15Bronchiectasis (HP:0002110)4.44214103
16Bronchitis (HP:0012387)4.20841993
17Recurrent bacterial skin infections (HP:0005406)4.10380852
18Eczematoid dermatitis (HP:0000976)4.08746904
19Gonadotropin excess (HP:0000837)4.03976116
20Fibular hypoplasia (HP:0003038)4.03344923
2111 pairs of ribs (HP:0000878)3.86955229
22Abnormal delayed hypersensitivity skin test (HP:0002963)3.71748175
23Arterial tortuosity (HP:0005116)3.70243375
24Recurrent abscess formation (HP:0002722)3.60749671
25Recurrent fungal infections (HP:0002841)3.54922949
26Abnormality of the renal medulla (HP:0100957)3.51254514
27Autoimmune hemolytic anemia (HP:0001890)3.48483409
28Spondylolisthesis (HP:0003302)3.39745937
29Spontaneous hematomas (HP:0007420)3.39735270
30Chronic diarrhea (HP:0002028)3.34659689
31Parkinsonism with favorable response to dopaminergic medication (HP:0002548)3.34209057
32Optic neuritis (HP:0100653)3.30270309
33Retrobulbar optic neuritis (HP:0100654)3.30270309
34Selective tooth agenesis (HP:0001592)3.27141096
35Recurrent otitis media (HP:0000403)3.19734404
36Abnormality of T cells (HP:0002843)3.14861264
37Recurrent viral infections (HP:0004429)3.14437875
38Vascular tortuosity (HP:0004948)3.13937636
39Chronic mucocutaneous candidiasis (HP:0002728)3.11936596
40Recurrent cutaneous fungal infections (HP:0011370)3.11936596
41Tubulointerstitial nephritis (HP:0001970)3.05837160
42Orchitis (HP:0100796)3.03948745
43Curly hair (HP:0002212)2.97964561
44Myositis (HP:0100614)2.89770663
45Recurrent sinusitis (HP:0011108)2.86289263
46Recurrent skin infections (HP:0001581)2.85764075
47Subacute progressive viral hepatitis (HP:0006572)2.81545981
48Bicuspid aortic valve (HP:0001647)2.77248740
49Gingivitis (HP:0000230)2.76675611
50Abnormal spermatogenesis (HP:0008669)2.76048525
51Gastrointestinal infarctions (HP:0005244)2.74957879
52Absent frontal sinuses (HP:0002688)2.74827230
53Recurrent bronchitis (HP:0002837)2.72779630
54Impulsivity (HP:0100710)2.71992448
55Supernumerary spleens (HP:0009799)2.70536085
56Tubular atrophy (HP:0000092)2.69699326
57Autoimmune thrombocytopenia (HP:0001973)2.69124039
58Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.67256731
59Recurrent gram-negative bacterial infections (HP:0005420)2.64888908
60Missing ribs (HP:0000921)2.62592304
61Eosinophilia (HP:0001880)2.61644136
62Vasculitis (HP:0002633)2.59458678
63Aplasia/Hypoplasia of the fibula (HP:0006492)2.57569888
64Meningitis (HP:0001287)2.56335351
65Heterotopia (HP:0002282)2.53384504
66Keratoconjunctivitis sicca (HP:0001097)2.52527173
67Abnormality of T cell physiology (HP:0011840)2.52226696
68Inflammation of the large intestine (HP:0002037)2.50857340
69Azoospermia (HP:0000027)2.50382810
70Molar tooth sign on MRI (HP:0002419)2.48468912
71Abnormality of midbrain morphology (HP:0002418)2.48468912
72Colitis (HP:0002583)2.48461435
73Male infertility (HP:0003251)2.48018775
74Viral hepatitis (HP:0006562)2.47849253
75Tubulointerstitial abnormality (HP:0001969)2.47512617
76Short ribs (HP:0000773)2.44779533
77Leukocytosis (HP:0001974)2.43483237
78Gingival bleeding (HP:0000225)2.43180664
79Large eyes (HP:0001090)2.40413370
80Cellulitis (HP:0100658)2.36808993
81Thyroid carcinoma (HP:0002890)2.33509369
82Osteomyelitis (HP:0002754)2.33251516
83Fair hair (HP:0002286)2.32983942
84Postaxial foot polydactyly (HP:0001830)2.30300422
85Hypoplasia of the capital femoral epiphysis (HP:0003090)2.29480759
86Mediastinal lymphadenopathy (HP:0100721)2.29373560
87Gastrointestinal inflammation (HP:0004386)2.28455068
88Arterial thrombosis (HP:0004420)2.27708696
89Granulocytopenia (HP:0001913)2.27309429
90Keratoconjunctivitis (HP:0001096)2.27266720
91Breast carcinoma (HP:0003002)2.27092281
92Abnormality of the fingertips (HP:0001211)2.21393894
93Hemoptysis (HP:0002105)2.20556670
94IgA deficiency (HP:0002720)2.19541501
95Vertebral arch anomaly (HP:0008438)2.19213169
96Aortic dissection (HP:0002647)2.14496177
97Acute myeloid leukemia (HP:0004808)2.14473655
98Abnormality of eosinophils (HP:0001879)2.14379270
99Prominent nose (HP:0000448)2.13887714
100Periodontitis (HP:0000704)2.13750668
101Facial cleft (HP:0002006)2.11502356
102Encephalitis (HP:0002383)2.11347915
103Chest pain (HP:0100749)2.11132585
104Abnormal platelet volume (HP:0011876)2.09298458
105Agammaglobulinemia (HP:0004432)2.07314401
106Stomatitis (HP:0010280)2.06812351
107IgM deficiency (HP:0002850)2.03627861
108Stage 5 chronic kidney disease (HP:0003774)2.03333117
109Coarse hair (HP:0002208)2.02119557
110Dislocated radial head (HP:0003083)2.01717141
111Abnormality of cells of the lymphoid lineage (HP:0012140)2.01342162
112Cystic hygroma (HP:0000476)2.01049958
113Abnormality of macrophages (HP:0004311)2.00696999
114Ectopic kidney (HP:0000086)2.00014218
115Respiratory insufficiency due to defective ciliary clearance (HP:0200073)12.1747936
116Thyroiditis (HP:0100646)1.99314895
117Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.98534079
118Panhypogammaglobulinemia (HP:0003139)1.98234833
119Abnormal hair whorl (HP:0010721)1.98130153
120Urticaria (HP:0001025)1.97215272
121Microglossia (HP:0000171)1.95647835
122Congenital hepatic fibrosis (HP:0002612)1.94444456
123Abnormality of the renal cortex (HP:0011035)1.93542989
124Medial flaring of the eyebrow (HP:0010747)1.91809131
125Abnormality of the radial head (HP:0003995)1.91524536
126Median cleft lip (HP:0000161)1.91352744
127Increased mean platelet volume (HP:0011877)1.91349598
128Narrow palate (HP:0000189)1.91222732
129* Abnormality of the vasculature of the conjunctiva (HP:0008054)1.90970368
130Peritonitis (HP:0002586)1.90468170
131Relative macrocephaly (HP:0004482)1.90368421
132Resting tremor (HP:0002322)1.90206085
133Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.90032535
134* Conjunctival telangiectasia (HP:0000524)1.88793212
135Pulmonary infiltrates (HP:0002113)1.88712579
136Abnormality of the epiphyses of the hand (HP:0005924)1.88218256
137Low anterior hairline (HP:0000294)1.87963093
138Generalized hypopigmentation of hair (HP:0011358)1.86448192
139Slow saccadic eye movements (HP:0000514)1.86124188
140Epistaxis (HP:0000421)1.85756186
141Increased IgM level (HP:0003496)1.85501239
142Tubulointerstitial fibrosis (HP:0005576)1.83027474
143Short thorax (HP:0010306)1.82587264
144Hematochezia (HP:0002573)1.82259620
145Difficulty running (HP:0009046)1.82230416
146Scanning speech (HP:0002168)1.81194096
147Mitral valve prolapse (HP:0001634)1.81009587
148Volvulus (HP:0002580)1.80796860
149Hypoplasia of the thymus (HP:0000778)1.80732922
150Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.80539668
151Hypopigmentation of the fundus (HP:0007894)1.80395322
152Prolonged bleeding time (HP:0003010)1.80386512
153Abnormality of dentin (HP:0010299)1.80190928
154Ependymoma (HP:0002888)1.79869272
155Increased CSF protein (HP:0002922)1.79310399
156Renal dysplasia (HP:0000110)1.78586730
157Sloping forehead (HP:0000340)1.78441976
158Lymphopenia (HP:0001888)1.77748557
159Increased IgE level (HP:0003212)1.76967421
160Broad distal phalanx of finger (HP:0009836)1.76830892
161Pustule (HP:0200039)1.76775485
162Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.74945234
163Absent epiphyses (HP:0010577)1.74945234
164Papillary thyroid carcinoma (HP:0002895)1.71182321
165Chronic sinusitis (HP:0011109)1.70601162
166Astrocytoma (HP:0009592)1.69886820
167Abnormality of the astrocytes (HP:0100707)1.69886820
168Sandal gap (HP:0001852)1.69705493
169High pitched voice (HP:0001620)1.67409184
170Truncal obesity (HP:0001956)1.66609010
171Nephroblastoma (Wilms tumor) (HP:0002667)1.62288297
172Postaxial hand polydactyly (HP:0001162)1.60106120
173Abnormal finger flexion creases (HP:0006143)1.55754038
174Hypoplasia of the radius (HP:0002984)1.55566406
175Abnormality of chromosome stability (HP:0003220)1.55151954
176Polydipsia (HP:0001959)1.49155801
177Abnormal drinking behavior (HP:0030082)1.49155801
178Aplasia/Hypoplasia of the uvula (HP:0010293)1.49011805
179Embryonal renal neoplasm (HP:0011794)1.47855464
180Hypoplasia of dental enamel (HP:0006297)1.45622689
181Short humerus (HP:0005792)1.45447128
182Abnormality of the dental root (HP:0006486)1.45386778
183Taurodontia (HP:0000679)1.45386778
184Abnormality of permanent molar morphology (HP:0011071)1.45386778
185Ridged nail (HP:0001807)1.41157416
186Pachygyria (HP:0001302)1.39431844
187Cystic liver disease (HP:0006706)1.38918650
188Chromsome breakage (HP:0040012)1.37015002
189Bell-shaped thorax (HP:0001591)1.36720946
190J-shaped sella turcica (HP:0002680)1.36666234
191Hypoplastic labia majora (HP:0000059)1.35973570
192Aplasia/Hypoplasia of the tongue (HP:0010295)1.35202646
193Renovascular hypertension (HP:0100817)1.34154132
194Chromosomal breakage induced by crosslinking agents (HP:0003221)1.32595052

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK38.73703269
2PDK48.73703269
3PDK25.52862479
4NEK93.46003137
5RIPK42.93541513
6CDC72.86270678
7NEK22.85975444
8PNCK2.81432901
9BLK2.61723881
10TESK12.57818729
11ICK2.37120660
12TYK22.31072337
13CDK122.30495463
14JAK12.15876474
15PTK2B2.14227224
16PRKD32.11263019
17SGK21.93705408
18BMPR21.80305508
19FES1.77708473
20BCR1.76446627
21TAOK31.73351027
22MAP3K21.72106443
23YES11.65151415
24JAK31.62639587
25SYK1.61841522
26SGK31.59779844
27BTK1.56156209
28MAP3K141.54919767
29TXK1.54177144
30PIK3CG1.52906255
31WEE11.52188623
32WNK41.47926281
33TEC1.47674166
34STK241.46915757
35STK391.44800306
36PASK1.43585624
37STK31.43488633
38TAF11.43315739
39HCK1.40210921
40IKBKE1.39824985
41TYRO31.38432010
42NEK61.38238693
43ATR1.30980164
44FGR1.30127149
45ITK1.20954200
46PAK31.19110970
47IRAK41.17178175
48TTK1.17147871
49EEF2K1.16256681
50GRK61.16238658
51JAK21.16126582
52KSR21.15556216
53WNK11.14124795
54NLK1.08802874
55PRPF4B1.06946806
56AKT31.05752420
57CHEK11.05722106
58TRPM71.05428837
59TNIK1.03412873
60LYN1.01466754
61STK381.00232335
62MAP2K30.99876662
63KSR10.96707512
64MAP3K70.96293417
65LCK0.96078377
66SGK4940.94936452
67SGK2230.94936452
68CAMKK20.94384595
69CCNB10.92259373
70KIT0.91450616
71CHEK20.87598738
72RAF10.84087917
73ATM0.83381027
74TGFBR20.82864790
75MAP3K10.82816414
76CAMK1G0.81591908
77PRKD20.76946364
78PLK10.75623986
79DYRK30.74628291
80MTOR0.74145451
81MATK0.71629051
82MAP3K130.68451164
83IKBKB0.64501448
84PDK10.63620143
85MARK20.62028144
86RET0.60494677
87DYRK1B0.60421657
88IRAK10.59343439
89SGK10.58900660
90STK100.58695351
91EPHA30.58066310
92BRD40.55724031
93SRPK10.54982905
94LATS10.54179509
95PLK20.53504404
96CDK40.52272750
97MELK0.45844910
98CDK20.44567315
99PKN20.43744812
100RIPK10.43483352
101PRKCQ0.43281957
102MAP3K100.42967117
103FGFR20.42791191
104CDK60.41846641
105PLK40.41444751
106WNK30.41061521
107SIK30.41059978
108PIK3CA0.40922351
109MAP3K50.40850048
110AURKB0.40643663
111CDK70.40200853
112CSNK1D0.39252671
113EPHB10.38217064
114CAMK40.37856420
115CDK10.37280209
116FER0.37276507
117PRKD10.36445123
118SCYL20.35732582
119MAPK150.35042489
120TTN0.34759331
121RPS6KB10.32901447
122CDK90.32562232
123PDGFRB0.32356674
124PRKAA10.31926444
125STK38L0.31692863
126STK40.31495003
127PRKDC0.30234425
128FGFR30.29773898
129CAMK1D0.29741913
130PTK60.27301909
131PAK20.26930979
132BUB10.26372734
133MAP4K10.25377304
134ACVR1B0.24743471
135NEK10.23770197
136NTRK20.21180688
137PDGFRA0.20971383
138PLK30.20681532
139LMTK20.19568357
140FGFR10.19267242
141MAPK100.19062767
142MARK30.19002088
143GSK3B0.18801446
144MAP3K40.18567640
145MAPK140.16459739
146PIM10.16237636
147TRIB30.16127683
148RPS6KB20.15877245
149MAPK80.15826700
150BRSK20.14176499
151MAP3K80.14019330
152MAPK10.13330636
153CSF1R0.12414196
154CSNK1E0.12267134
155CSK0.11534363
156CSNK2A20.11447863
157ALK0.11023089
158PINK10.10527660
159ZAP700.10103018
160FGFR40.09626287
161EGFR0.09084415
162PAK10.08781058
163FRK0.08529648
164AKT10.08406972
165CAMKK10.08227377
166RPS6KA30.08148973
167STK110.08005253
168PAK60.07933501

Predicted pathways (KEGG)

RankGene SetZ-score
1Fanconi anemia pathway_Homo sapiens_hsa034603.70836560
2Vitamin B6 metabolism_Homo sapiens_hsa007503.52763080
3Dorso-ventral axis formation_Homo sapiens_hsa043203.11741856
4RNA transport_Homo sapiens_hsa030132.85867212
5Pyruvate metabolism_Homo sapiens_hsa006202.85014617
6Basal transcription factors_Homo sapiens_hsa030222.75618976
7Selenocompound metabolism_Homo sapiens_hsa004502.59040191
8mRNA surveillance pathway_Homo sapiens_hsa030152.57517709
9Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.48676315
10Leishmaniasis_Homo sapiens_hsa051402.40480412
11Glucagon signaling pathway_Homo sapiens_hsa049222.35785007
12Oocyte meiosis_Homo sapiens_hsa041142.35416826
13Pentose phosphate pathway_Homo sapiens_hsa000302.13725601
14Osteoclast differentiation_Homo sapiens_hsa043802.11239876
15Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.08359392
16Cell cycle_Homo sapiens_hsa041102.08015136
17Graft-versus-host disease_Homo sapiens_hsa053322.00176803
18Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.98293599
19Antigen processing and presentation_Homo sapiens_hsa046121.94879741
20Allograft rejection_Homo sapiens_hsa053301.91388020
21Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.88570882
22Autoimmune thyroid disease_Homo sapiens_hsa053201.88396159
23Homologous recombination_Homo sapiens_hsa034401.77835355
24Mismatch repair_Homo sapiens_hsa034301.77540039
25Systemic lupus erythematosus_Homo sapiens_hsa053221.75254710
26Staphylococcus aureus infection_Homo sapiens_hsa051501.75205463
27Non-small cell lung cancer_Homo sapiens_hsa052231.70485510
28Propanoate metabolism_Homo sapiens_hsa006401.70480447
29Fatty acid biosynthesis_Homo sapiens_hsa000611.67368601
30Chronic myeloid leukemia_Homo sapiens_hsa052201.65388689
31Spliceosome_Homo sapiens_hsa030401.58592861
32Tuberculosis_Homo sapiens_hsa051521.58510495
33Jak-STAT signaling pathway_Homo sapiens_hsa046301.57641813
34Hepatitis B_Homo sapiens_hsa051611.54237353
35Pancreatic cancer_Homo sapiens_hsa052121.53110214
36DNA replication_Homo sapiens_hsa030301.51734485
37Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.51226049
38NF-kappa B signaling pathway_Homo sapiens_hsa040641.51206579
39Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.50210251
40Toll-like receptor signaling pathway_Homo sapiens_hsa046201.41223596
41Malaria_Homo sapiens_hsa051441.37897708
42Platelet activation_Homo sapiens_hsa046111.36957246
43Viral carcinogenesis_Homo sapiens_hsa052031.36320316
44RNA degradation_Homo sapiens_hsa030181.35592684
45AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.34845639
46NOD-like receptor signaling pathway_Homo sapiens_hsa046211.32520711
47Acute myeloid leukemia_Homo sapiens_hsa052211.31078523
48Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.30256045
49Prolactin signaling pathway_Homo sapiens_hsa049171.29956399
50Non-homologous end-joining_Homo sapiens_hsa034501.29235512
51Hematopoietic cell lineage_Homo sapiens_hsa046401.29039671
52Renal cell carcinoma_Homo sapiens_hsa052111.28997924
53Type I diabetes mellitus_Homo sapiens_hsa049401.28984773
54Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.28910537
55Cysteine and methionine metabolism_Homo sapiens_hsa002701.26669976
56p53 signaling pathway_Homo sapiens_hsa041151.26657136
57Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.25424210
58RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.24560017
59TNF signaling pathway_Homo sapiens_hsa046681.24294332
60Glioma_Homo sapiens_hsa052141.19692826
61Central carbon metabolism in cancer_Homo sapiens_hsa052301.18693871
62FoxO signaling pathway_Homo sapiens_hsa040681.16014826
63Nucleotide excision repair_Homo sapiens_hsa034201.15746298
64Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.14692774
65Chemokine signaling pathway_Homo sapiens_hsa040621.09943868
66Glycerolipid metabolism_Homo sapiens_hsa005611.07377031
67Base excision repair_Homo sapiens_hsa034101.05414344
68Asthma_Homo sapiens_hsa053101.03691364
69Leukocyte transendothelial migration_Homo sapiens_hsa046700.99359359
70HTLV-I infection_Homo sapiens_hsa051660.99168353
71Intestinal immune network for IgA production_Homo sapiens_hsa046720.97600582
72African trypanosomiasis_Homo sapiens_hsa051430.96498728
73Lysine degradation_Homo sapiens_hsa003100.95754337
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.94003596
75mTOR signaling pathway_Homo sapiens_hsa041500.92992993
76ErbB signaling pathway_Homo sapiens_hsa040120.92107415
77Estrogen signaling pathway_Homo sapiens_hsa049150.92039972
78Renin secretion_Homo sapiens_hsa049240.91047297
79Apoptosis_Homo sapiens_hsa042100.88258693
80alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.88009194
81Alcoholism_Homo sapiens_hsa050340.86569467
82Carbohydrate digestion and absorption_Homo sapiens_hsa049730.86305855
83T cell receptor signaling pathway_Homo sapiens_hsa046600.84837622
84VEGF signaling pathway_Homo sapiens_hsa043700.84500317
85Amphetamine addiction_Homo sapiens_hsa050310.84275171
86Proteoglycans in cancer_Homo sapiens_hsa052050.81833266
87Biosynthesis of amino acids_Homo sapiens_hsa012300.80945232
88Choline metabolism in cancer_Homo sapiens_hsa052310.80691870
89Hepatitis C_Homo sapiens_hsa051600.79899000
90Phosphatidylinositol signaling system_Homo sapiens_hsa040700.79845878
91B cell receptor signaling pathway_Homo sapiens_hsa046620.78755711
92Epstein-Barr virus infection_Homo sapiens_hsa051690.78296371
93Carbon metabolism_Homo sapiens_hsa012000.78090182
94Thyroid hormone signaling pathway_Homo sapiens_hsa049190.77201737
95Long-term potentiation_Homo sapiens_hsa047200.76888832
96Thyroid cancer_Homo sapiens_hsa052160.76114065
97Linoleic acid metabolism_Homo sapiens_hsa005910.75967503
98Phospholipase D signaling pathway_Homo sapiens_hsa040720.74596395
99Amoebiasis_Homo sapiens_hsa051460.74313422
100Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.74169772
101Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.73732444
102Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.72585252
103AMPK signaling pathway_Homo sapiens_hsa041520.70760686
104Inositol phosphate metabolism_Homo sapiens_hsa005620.68339099
105Small cell lung cancer_Homo sapiens_hsa052220.65990712
106Focal adhesion_Homo sapiens_hsa045100.65779120
107Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.65563398
108GnRH signaling pathway_Homo sapiens_hsa049120.64435651
109Herpes simplex infection_Homo sapiens_hsa051680.64063988
110ABC transporters_Homo sapiens_hsa020100.61327061
111Glycerophospholipid metabolism_Homo sapiens_hsa005640.61145205
112Sphingolipid signaling pathway_Homo sapiens_hsa040710.59858838
113SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59161231
114Purine metabolism_Homo sapiens_hsa002300.59001754
115Phagosome_Homo sapiens_hsa041450.58174803
116Legionellosis_Homo sapiens_hsa051340.56885199
117Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.56644840
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56414308
119Influenza A_Homo sapiens_hsa051640.55041762
120MAPK signaling pathway_Homo sapiens_hsa040100.54922674
121Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54776211
122Huntingtons disease_Homo sapiens_hsa050160.54216555
123Wnt signaling pathway_Homo sapiens_hsa043100.53578751
124Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.52450372
125Fructose and mannose metabolism_Homo sapiens_hsa000510.51886087
126MicroRNAs in cancer_Homo sapiens_hsa052060.51365274
127Toxoplasmosis_Homo sapiens_hsa051450.51351562
128TGF-beta signaling pathway_Homo sapiens_hsa043500.50911480
129N-Glycan biosynthesis_Homo sapiens_hsa005100.50500547
130Rheumatoid arthritis_Homo sapiens_hsa053230.49409523
131One carbon pool by folate_Homo sapiens_hsa006700.49002384
132Adherens junction_Homo sapiens_hsa045200.48581141
133Basal cell carcinoma_Homo sapiens_hsa052170.47999233
134Measles_Homo sapiens_hsa051620.47775586
135HIF-1 signaling pathway_Homo sapiens_hsa040660.47710958
136Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46680603
137Ras signaling pathway_Homo sapiens_hsa040140.46314849
138Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46086221
139Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.44857167
140Transcriptional misregulation in cancer_Homo sapiens_hsa052020.44450777
141cGMP-PKG signaling pathway_Homo sapiens_hsa040220.43921621
142Endocytosis_Homo sapiens_hsa041440.43554738
143Prostate cancer_Homo sapiens_hsa052150.38986730
144Colorectal cancer_Homo sapiens_hsa052100.38810913
145Viral myocarditis_Homo sapiens_hsa054160.37352152
146Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.37198658
147PPAR signaling pathway_Homo sapiens_hsa033200.36438114
148Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.35176677
149Pyrimidine metabolism_Homo sapiens_hsa002400.34436982
150Hedgehog signaling pathway_Homo sapiens_hsa043400.32275352
151Hippo signaling pathway_Homo sapiens_hsa043900.31214618
152Tight junction_Homo sapiens_hsa045300.30378483
153Primary immunodeficiency_Homo sapiens_hsa053400.29962757
154Insulin resistance_Homo sapiens_hsa049310.29581712
155Endometrial cancer_Homo sapiens_hsa052130.29465937
156Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.28032449
157Type II diabetes mellitus_Homo sapiens_hsa049300.26982940
158Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.26601444
159Notch signaling pathway_Homo sapiens_hsa043300.26569390

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