CTPS2

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: The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of phagocytosis (GO:0050765)5.23653630
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.92919528
3positive regulation of gamma-delta T cell activation (GO:0046645)4.70592461
4RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)4.65418797
5tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)4.65418797
6pre-miRNA processing (GO:0031054)4.39503816
7negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.03051547
8negative regulation of cell killing (GO:0031342)4.03051547
9antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.92825557
10antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.92825557
11chromatin remodeling at centromere (GO:0031055)3.89117601
12ribosomal small subunit assembly (GO:0000028)3.87805187
13nuclear pore complex assembly (GO:0051292)3.84026970
14mast cell activation (GO:0045576)3.82098903
15CENP-A containing nucleosome assembly (GO:0034080)3.76286860
16paraxial mesoderm development (GO:0048339)3.71183358
17positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.67688777
18regulation of B cell receptor signaling pathway (GO:0050855)3.65808253
19nuclear pore organization (GO:0006999)3.65502583
20establishment of integrated proviral latency (GO:0075713)3.60223004
21sequestering of actin monomers (GO:0042989)3.58348461
22dorsal/ventral axis specification (GO:0009950)3.50270163
23antigen processing and presentation of endogenous antigen (GO:0019883)3.45904923
24hepatocyte apoptotic process (GO:0097284)3.43372758
25regulation of gene silencing by RNA (GO:0060966)3.43085109
26regulation of posttranscriptional gene silencing (GO:0060147)3.43085109
27regulation of gene silencing by miRNA (GO:0060964)3.43085109
28DNA unwinding involved in DNA replication (GO:0006268)3.42588565
29necroptotic process (GO:0070266)3.39483290
30double-strand break repair via nonhomologous end joining (GO:0006303)3.33553590
31non-recombinational repair (GO:0000726)3.33553590
32Arp2/3 complex-mediated actin nucleation (GO:0034314)3.32138782
33signal peptide processing (GO:0006465)3.30419854
34interferon-gamma production (GO:0032609)3.27200292
35mast cell degranulation (GO:0043303)3.26115255
36mast cell activation involved in immune response (GO:0002279)3.26115255
37daunorubicin metabolic process (GO:0044597)3.24076694
38polyketide metabolic process (GO:0030638)3.24076694
39doxorubicin metabolic process (GO:0044598)3.24076694
40T cell migration (GO:0072678)3.20383439
41regulation of centriole replication (GO:0046599)3.20195179
42regulation of histone H3-K9 methylation (GO:0051570)3.20077108
43DNA replication-independent nucleosome assembly (GO:0006336)3.18961270
44DNA replication-independent nucleosome organization (GO:0034724)3.18961270
45protein localization to kinetochore (GO:0034501)3.18444387
46positive regulation of macrophage differentiation (GO:0045651)3.18226168
47histone exchange (GO:0043486)3.18071317
48energy homeostasis (GO:0097009)3.16174198
49regulation of B cell differentiation (GO:0045577)3.16000973
50megakaryocyte development (GO:0035855)3.15525809
51regulation of gamma-delta T cell differentiation (GO:0045586)3.12493037
52negative T cell selection (GO:0043383)3.10518582
53leukocyte aggregation (GO:0070486)3.09795008
54L-serine metabolic process (GO:0006563)3.09291812
55myeloid dendritic cell activation (GO:0001773)3.08264080
56negative thymic T cell selection (GO:0045060)3.02247093
57antigen processing and presentation via MHC class Ib (GO:0002475)3.01588189
58positive regulation of B cell differentiation (GO:0045579)3.01563899
59lymph node development (GO:0048535)2.95817363
60regulation of gamma-delta T cell activation (GO:0046643)2.94411545
61defense response to protozoan (GO:0042832)2.94358783
62histamine secretion (GO:0001821)2.93692862
63programmed necrotic cell death (GO:0097300)2.93356096
64B cell receptor signaling pathway (GO:0050853)2.92892556
65heterochromatin organization (GO:0070828)2.91092421
66DNA strand elongation involved in DNA replication (GO:0006271)2.90740323
67regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.89355001
68response to interleukin-15 (GO:0070672)2.88994029
69ATP-dependent chromatin remodeling (GO:0043044)2.88110490
70cellular response to interleukin-15 (GO:0071350)2.87446826
71regulation of regulatory T cell differentiation (GO:0045589)2.87352744
72lymphoid progenitor cell differentiation (GO:0002320)2.85677841
73somatic hypermutation of immunoglobulin genes (GO:0016446)2.84629656
74somatic diversification of immune receptors via somatic mutation (GO:0002566)2.84629656
75necrotic cell death (GO:0070265)2.84466257
76DNA replication-dependent nucleosome assembly (GO:0006335)2.83525197
77DNA replication-dependent nucleosome organization (GO:0034723)2.83525197
78endosome to melanosome transport (GO:0035646)2.81633733
79endosome to pigment granule transport (GO:0043485)2.81633733
80sister chromatid segregation (GO:0000819)2.79669601
81response to protozoan (GO:0001562)2.78546750
82T cell homeostasis (GO:0043029)2.77205143
83platelet dense granule organization (GO:0060155)2.76873413
84cellular response to zinc ion (GO:0071294)2.76824867
85regulation of cell fate specification (GO:0042659)2.76648154
86notochord development (GO:0030903)2.75370725
87DNA ligation (GO:0006266)2.71703196
88positive thymic T cell selection (GO:0045059)2.71615181
89DNA strand elongation (GO:0022616)2.71392746
90regulation of T cell mediated cytotoxicity (GO:0001914)2.70456455
91DNA replication checkpoint (GO:0000076)2.70434176
92mature B cell differentiation involved in immune response (GO:0002313)2.69165426
93regulation of helicase activity (GO:0051095)2.68948892
94mitotic sister chromatid cohesion (GO:0007064)2.68547831
95execution phase of apoptosis (GO:0097194)2.68198735
96DNA double-strand break processing (GO:0000729)2.68163101
97definitive hemopoiesis (GO:0060216)2.67391292
98mitotic metaphase plate congression (GO:0007080)2.66762890
99purine nucleobase biosynthetic process (GO:0009113)2.66654195
100regulation of isotype switching to IgG isotypes (GO:0048302)2.66617559
101regulation of development, heterochronic (GO:0040034)2.65818273
102regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.62708432
103protein-DNA complex disassembly (GO:0032986)2.62368669
104nucleosome disassembly (GO:0006337)2.62368669
105ncRNA catabolic process (GO:0034661)2.61983691
106lipopolysaccharide biosynthetic process (GO:0009103)2.61552458
107negative regulation of mitotic sister chromatid separation (GO:2000816)2.61417910
108negative regulation of sister chromatid segregation (GO:0033046)2.61417910
109negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.61417910
110negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.61417910
111negative regulation of mitotic sister chromatid segregation (GO:0033048)2.61417910
112antigen receptor-mediated signaling pathway (GO:0050851)2.60751775
113regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.60698361
114pore complex assembly (GO:0046931)2.60095422
115regulation of response to interferon-gamma (GO:0060330)2.60068801
116regulation of T cell receptor signaling pathway (GO:0050856)2.60047104
117regulation of centrosome cycle (GO:0046605)2.59837961
118spindle checkpoint (GO:0031577)2.59136356
119regulation of sister chromatid segregation (GO:0033045)2.59126251
120regulation of mitotic sister chromatid separation (GO:0010965)2.59126251
121regulation of mitotic sister chromatid segregation (GO:0033047)2.59126251
122protein localization to chromosome, centromeric region (GO:0071459)2.58740111
123negative regulation of chromosome segregation (GO:0051985)2.58187132
124DNA replication initiation (GO:0006270)2.58137507
125regulation of chromosome segregation (GO:0051983)2.56815690
126mitotic sister chromatid segregation (GO:0000070)2.56789580
127mitotic spindle checkpoint (GO:0071174)2.55857682
128regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.55790313
129histone H2A acetylation (GO:0043968)2.55220249
130respiratory burst (GO:0045730)2.55154021
131B cell activation involved in immune response (GO:0002312)2.54565610
132mitotic G2/M transition checkpoint (GO:0044818)2.54535653
133myeloid cell activation involved in immune response (GO:0002275)2.54421461
134cellular response to interferon-beta (GO:0035458)2.54077989
135interferon-gamma-mediated signaling pathway (GO:0060333)2.53843853
136regulation of timing of cell differentiation (GO:0048505)2.53437087
137regulation of mitotic metaphase/anaphase transition (GO:0030071)2.53372786
138regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.53372786
139metaphase plate congression (GO:0051310)2.52951730
140negative regulation of DNA-dependent DNA replication (GO:2000104)2.52821403
141kinetochore organization (GO:0051383)2.52227429
142replication fork processing (GO:0031297)2.52089360
143leukocyte degranulation (GO:0043299)2.51953491
144response to X-ray (GO:0010165)2.51923959
145regulation of sister chromatid cohesion (GO:0007063)2.51286400
146somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.50665121
147isotype switching (GO:0045190)2.50665121
148somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.50665121
149regulation of interleukin-12 biosynthetic process (GO:0045075)2.49689512
150DNA topological change (GO:0006265)2.49538052
151actin nucleation (GO:0045010)2.49411443
152response to interferon-beta (GO:0035456)2.49110777
153mitotic recombination (GO:0006312)2.48374439
154regulation of centrosome duplication (GO:0010824)2.47841539
155histamine transport (GO:0051608)2.47232685
156CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.46937849
157negative regulation of translation, ncRNA-mediated (GO:0040033)2.46617386
158regulation of translation, ncRNA-mediated (GO:0045974)2.46617386
159negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.46617386
160lung-associated mesenchyme development (GO:0060484)2.46561164
161homocysteine metabolic process (GO:0050667)2.45518234
162nucleobase biosynthetic process (GO:0046112)2.44272198
163cornea development in camera-type eye (GO:0061303)2.43800732
164regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.43765162
165chromatin assembly or disassembly (GO:0006333)2.43733429
166T cell receptor signaling pathway (GO:0050852)2.43458421
167maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.43136362
168positive T cell selection (GO:0043368)2.42906241
169lipopolysaccharide metabolic process (GO:0008653)2.42810863
170telomere maintenance via semi-conservative replication (GO:0032201)2.42681312
171positive regulation of T cell mediated cytotoxicity (GO:0001916)2.42484551
172IMP biosynthetic process (GO:0006188)2.42142728
173positive regulation of chromosome segregation (GO:0051984)2.42113599
174mitotic spindle assembly checkpoint (GO:0007094)2.41988577
175hindbrain development (GO:0030902)2.41887697
176female gonad development (GO:0008585)2.41853640
177forebrain morphogenesis (GO:0048853)2.41752124
178gastrulation with mouth forming second (GO:0001702)2.41642787
179mature B cell differentiation (GO:0002335)2.40647152
180pituitary gland development (GO:0021983)2.40064814
181macrophage differentiation (GO:0030225)2.39843574
182spindle assembly checkpoint (GO:0071173)2.39514689
183viral transcription (GO:0019083)2.39418936
184regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.39276417
185mitotic nuclear envelope disassembly (GO:0007077)2.38730695
186nucleotide-excision repair, DNA gap filling (GO:0006297)2.37887136
187DNA duplex unwinding (GO:0032508)2.37491198
188JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.36728643
189intra-S DNA damage checkpoint (GO:0031573)2.36501109
190response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.36361166
191response to host immune response (GO:0052572)2.36361166
192regulation of RNA export from nucleus (GO:0046831)2.36113239
193DNA geometric change (GO:0032392)2.35683200
194positive regulation of isotype switching (GO:0045830)2.35489155
195positive regulation of antigen processing and presentation (GO:0002579)2.35339869
196B cell activation (GO:0042113)2.35260918
197translesion synthesis (GO:0019985)2.34762181

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.46613639
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.83604119
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.16816645
4SALL1_21062744_ChIP-ChIP_HESCs_Human4.08459649
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.94293810
6ELF1_17652178_ChIP-ChIP_JURKAT_Human3.63780164
7* IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.53607948
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.42282368
9EGR1_19374776_ChIP-ChIP_THP-1_Human3.39990551
10* IRF8_21731497_ChIP-ChIP_J774_Mouse3.20402297
11SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.91031643
12* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.89542715
13IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.70818927
14ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.66177478
15KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.61501674
16SPI1_23547873_ChIP-Seq_NB4_Human2.59912808
17FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.58252288
18SCL_19346495_ChIP-Seq_HPC-7_Human2.46527535
19RUNX_20019798_ChIP-Seq_JUKART_Human2.45802158
20MYB_21317192_ChIP-Seq_ERMYB_Mouse2.42878044
21GATA1_22025678_ChIP-Seq_K562_Human2.42763027
22FUS_26573619_Chip-Seq_HEK293_Human2.40425894
23STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.38338783
24STAT4_19710469_ChIP-ChIP_TH1__Mouse2.37824020
25HOXB4_20404135_ChIP-ChIP_EML_Mouse2.36197985
26FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.35871314
27ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.34742518
28BP1_19119308_ChIP-ChIP_Hs578T_Human2.33192602
29RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.30469151
30SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.26450005
31POU5F1_16153702_ChIP-ChIP_HESCs_Human2.21882068
32MYB_26560356_Chip-Seq_TH2_Human2.18520492
33* IRF8_27001747_Chip-Seq_BMDM_Mouse2.16383097
34FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.15861972
35NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.14651485
36NOTCH1_21737748_ChIP-Seq_TLL_Human2.13294181
37TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.11069813
38ELK1_19687146_ChIP-ChIP_HELA_Human2.03029387
39CIITA_25753668_ChIP-Seq_RAJI_Human2.01500082
40VDR_23849224_ChIP-Seq_CD4+_Human2.00912855
41EWS_26573619_Chip-Seq_HEK293_Human1.91309824
42SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.90550160
43AR_21909140_ChIP-Seq_LNCAP_Human1.89900731
44SOX2_16153702_ChIP-ChIP_HESCs_Human1.89317866
45ERG_20887958_ChIP-Seq_HPC-7_Mouse1.88731193
46TP63_19390658_ChIP-ChIP_HaCaT_Human1.88641493
47HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.85807853
48EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.85797291
49NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.81234828
50RUNX1_22412390_ChIP-Seq_EML_Mouse1.79696570
51EST1_17652178_ChIP-ChIP_JURKAT_Human1.79663724
52E2F4_17652178_ChIP-ChIP_JURKAT_Human1.75530409
53FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.74853267
54KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.74215519
55NANOG_16153702_ChIP-ChIP_HESCs_Human1.71907287
56MYB_26560356_Chip-Seq_TH1_Human1.71240532
57GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.70629782
58CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.69991671
59GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.69720282
60HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.68177690
61MYC_18555785_ChIP-Seq_MESCs_Mouse1.68104334
62MYC_22102868_ChIP-Seq_BL_Human1.64470835
63POU3F2_20337985_ChIP-ChIP_501MEL_Human1.64095431
64E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.61944830
65CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.61173835
66MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.59323152
67PADI4_21655091_ChIP-ChIP_MCF-7_Human1.58152625
68TAF15_26573619_Chip-Seq_HEK293_Human1.57124116
69HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.55866410
70CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.54692233
71ZNF274_21170338_ChIP-Seq_K562_Hela1.52952558
72FOXP3_21729870_ChIP-Seq_TREG_Human1.52069189
73RBPJ_22232070_ChIP-Seq_NCS_Mouse1.51687234
74NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.50370661
75FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.46224476
76GABP_17652178_ChIP-ChIP_JURKAT_Human1.45979444
77TFEB_21752829_ChIP-Seq_HELA_Human1.44995504
78* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.43347099
79SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.42353179
80PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40957197
81* P300_19829295_ChIP-Seq_ESCs_Human1.39391527
82MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.39007693
83MAF_26560356_Chip-Seq_TH1_Human1.37407031
84ESR1_15608294_ChIP-ChIP_MCF-7_Human1.36897781
85POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.36281299
86MYCN_18555785_ChIP-Seq_MESCs_Mouse1.35763003
87YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35242258
88GBX2_23144817_ChIP-Seq_PC3_Human1.34263334
89MYC_18940864_ChIP-ChIP_HL60_Human1.33297020
90BRD4_27068464_Chip-Seq_AML-cells_Mouse1.31328006
91SRF_21415370_ChIP-Seq_HL-1_Mouse1.30945696
92RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.30899843
93GATA3_27048872_Chip-Seq_THYMUS_Human1.29427812
94UTX_26944678_Chip-Seq_JUKART_Human1.28768624
95SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.27754301
96SPI1_23127762_ChIP-Seq_K562_Human1.25956646
97NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.25889878
98SOX2_18555785_ChIP-Seq_MESCs_Mouse1.25696643
99MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.24879537
100E2F1_21310950_ChIP-Seq_MCF-7_Human1.24845939
101GATA2_22383799_ChIP-Seq_G1ME_Mouse1.24842726
102VDR_24763502_ChIP-Seq_THP-1_Human1.22275204
103LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.21472513
104WT1_19549856_ChIP-ChIP_CCG9911_Human1.21434927
105PU_27001747_Chip-Seq_BMDM_Mouse1.20525576
106LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.19946264
107SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.19929221
108HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.19569224
109CTBP2_25329375_ChIP-Seq_LNCAP_Human1.17653902
110IGF1R_20145208_ChIP-Seq_DFB_Human1.16779414
111ZFP57_27257070_Chip-Seq_ESCs_Mouse1.15578063
112NANOG_21062744_ChIP-ChIP_HESCs_Human1.14551411
113VDR_21846776_ChIP-Seq_THP-1_Human1.14419910
114FLI1_27457419_Chip-Seq_LIVER_Mouse1.13928813
115MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.13506274
116TCF3_18692474_ChIP-Seq_MEFs_Mouse1.13477289
117ETS1_20019798_ChIP-Seq_JURKAT_Human1.13428734
118NELFA_20434984_ChIP-Seq_ESCs_Mouse1.13368523
119TCF3_18692474_ChIP-Seq_MESCs_Mouse1.12572462
120JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.12429995
121XRN2_22483619_ChIP-Seq_HELA_Human1.09146966
122STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.08624023
123MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.08494860
124AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07926384
125VDR_22108803_ChIP-Seq_LS180_Human1.07836349
126SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.06933040
127NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.06420571
128TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05701748
129POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.05582279
130PIAS1_25552417_ChIP-Seq_VCAP_Human1.05516881
131STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.05513774
132MYC_18358816_ChIP-ChIP_MESCs_Mouse1.05321609
133GATA3_26560356_Chip-Seq_TH2_Human1.05096365
134CREB1_15753290_ChIP-ChIP_HEK293T_Human1.04872571
135RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.04699217
136TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04288519
137MYC_19030024_ChIP-ChIP_MESCs_Mouse1.03193295
138POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.01756670
139FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.01637845
140TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.01611029
141GATA1_26923725_Chip-Seq_HPCs_Mouse1.01444823
142PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.01227907
143DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.01172762
144FOXM1_23109430_ChIP-Seq_U2OS_Human1.00748351
145SMAD3_21741376_ChIP-Seq_EPCs_Human1.00124694
146Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.00120736
147ETS1_22383799_ChIP-Seq_G1ME_Mouse0.99759342
148* E2F1_18555785_ChIP-Seq_MESCs_Mouse0.99555508
149ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98839541
150IRF1_19129219_ChIP-ChIP_H3396_Human0.97193110
151SOX9_26525672_Chip-Seq_HEART_Mouse0.96858875
152PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95636519
153FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.95592257
154* ZFX_18555785_ChIP-Seq_MESCs_Mouse0.95310833
155ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.94352122
156KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.94279166
157KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.94279166
158KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.94279166
159TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94214071
160NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.93705624
161TOP2B_26459242_ChIP-Seq_MCF-7_Human0.93256727
162RNF2_27304074_Chip-Seq_NSC_Mouse0.92728472
163CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.91772225
164POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.90822094
165SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.90238665
166TTF2_22483619_ChIP-Seq_HELA_Human0.90124637
167PCGF2_27294783_Chip-Seq_ESCs_Mouse0.89996043
168FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89531762
169CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.88403153
170SOX17_20123909_ChIP-Seq_XEN_Mouse0.88009846
171MYC_19079543_ChIP-ChIP_MESCs_Mouse0.87570047
172TCF7_22412390_ChIP-Seq_EML_Mouse0.87521065
173E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.86712322

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.54989174
2MP0003763_abnormal_thymus_physiology3.14618426
3MP0003724_increased_susceptibility_to3.09968023
4MP0005671_abnormal_response_to2.98697556
5MP0003941_abnormal_skin_development2.96336029
6MP0009785_altered_susceptibility_to2.91128933
7MP0002396_abnormal_hematopoietic_system2.77501019
8MP0003890_abnormal_embryonic-extraembry2.39019027
9MP0002166_altered_tumor_susceptibility2.35284458
10MP0001800_abnormal_humoral_immune2.34856328
11MP0005000_abnormal_immune_tolerance2.34256984
12MP0000685_abnormal_immune_system2.34035574
13MP0002420_abnormal_adaptive_immunity2.33560608
14MP0005025_abnormal_response_to2.33272699
15MP0002148_abnormal_hypersensitivity_rea2.31902752
16MP0001819_abnormal_immune_cell2.30621633
17MP0001293_anophthalmia2.27443375
18MP0004808_abnormal_hematopoietic_stem2.26951605
19MP0002452_abnormal_antigen_presenting2.26402273
20MP0002723_abnormal_immune_serum2.24782607
21MP0005464_abnormal_platelet_physiology2.24433880
22MP0008007_abnormal_cellular_replicative2.23388643
23MP0010030_abnormal_orbit_morphology2.18756042
24MP0002938_white_spotting2.16749693
25MP0002398_abnormal_bone_marrow2.16736454
26MP0002419_abnormal_innate_immunity2.10653136
27MP0001790_abnormal_immune_system2.07214161
28MP0005387_immune_system_phenotype2.07214161
29MP0003436_decreased_susceptibility_to2.06832826
30MP0008057_abnormal_DNA_replication2.06427684
31MP0003787_abnormal_imprinting2.01751270
32MP0003937_abnormal_limbs/digits/tail_de2.01715825
33MP0005379_endocrine/exocrine_gland_phen1.98474124
34MP0001986_abnormal_taste_sensitivity1.96518189
35MP0005174_abnormal_tail_pigmentation1.91073203
36MP0002006_tumorigenesis1.90124096
37MP0001348_abnormal_lacrimal_gland1.89949585
38MP0000716_abnormal_immune_system1.88906253
39MP0003111_abnormal_nucleus_morphology1.84935607
40MP0003567_abnormal_fetal_cardiomyocyte1.82202565
41MP0009672_abnormal_birth_weight1.80669880
42MP0002405_respiratory_system_inflammati1.77846615
43MP0003123_paternal_imprinting1.75491037
44MP0008789_abnormal_olfactory_epithelium1.75127947
45MP0003119_abnormal_digestive_system1.74546776
46MP0005397_hematopoietic_system_phenotyp1.70902800
47MP0001545_abnormal_hematopoietic_system1.70902800
48MP0002697_abnormal_eye_size1.70194907
49MP0000569_abnormal_digit_pigmentation1.69059373
50MP0000703_abnormal_thymus_morphology1.68667220
51MP0003122_maternal_imprinting1.67405036
52MP0006292_abnormal_olfactory_placode1.67277139
53MP0003300_gastrointestinal_ulcer1.66570594
54MP0009333_abnormal_splenocyte_physiolog1.66347938
55MP0005394_taste/olfaction_phenotype1.64283263
56MP0005499_abnormal_olfactory_system1.64283263
57MP0000689_abnormal_spleen_morphology1.64251162
58MP0006082_CNS_inflammation1.63549347
59MP0002722_abnormal_immune_system1.62627156
60MP0008932_abnormal_embryonic_tissue1.62293615
61MP0002429_abnormal_blood_cell1.61444327
62MP0002233_abnormal_nose_morphology1.58699168
63MP0003172_abnormal_lysosome_physiology1.56730664
64MP0000015_abnormal_ear_pigmentation1.56367899
65MP0008058_abnormal_DNA_repair1.53968456
66MP0001853_heart_inflammation1.52422939
67MP0002933_joint_inflammation1.51640150
68MP0010155_abnormal_intestine_physiology1.51624714
69MP0001286_abnormal_eye_development1.50772218
70MP0010352_gastrointestinal_tract_polyps1.50131758
71MP0002084_abnormal_developmental_patter1.48075675
72MP0000537_abnormal_urethra_morphology1.47446195
73MP0005257_abnormal_intraocular_pressure1.46079015
74MP0001845_abnormal_inflammatory_respons1.44708965
75MP0009703_decreased_birth_body1.44185182
76MP0000566_synostosis1.43070870
77MP0000490_abnormal_crypts_of1.42753347
78MP0000428_abnormal_craniofacial_morphol1.42129859
79MP0003718_maternal_effect1.39138107
80MP0010094_abnormal_chromosome_stability1.38070629
81MP0004133_heterotaxia1.33486590
82MP0002085_abnormal_embryonic_tissue1.32083956
83MP0000778_abnormal_nervous_system1.32052352
84MP0006054_spinal_hemorrhage1.29801146
85MP0003693_abnormal_embryo_hatching1.28758453
86MP0001672_abnormal_embryogenesis/_devel1.26559501
87MP0005380_embryogenesis_phenotype1.26559501
88MP0003183_abnormal_peptide_metabolism1.25819753
89MP0003136_yellow_coat_color1.23848466
90MP0002254_reproductive_system_inflammat1.23831566
91MP0001533_abnormal_skeleton_physiology1.21749673
92MP0000631_abnormal_neuroendocrine_gland1.21068075
93MP0004197_abnormal_fetal_growth/weight/1.20598615
94MP0001873_stomach_inflammation1.19867415
95MP0005075_abnormal_melanosome_morpholog1.19335922
96MP0002092_abnormal_eye_morphology1.18583123
97MP0001697_abnormal_embryo_size1.18019877
98MP0002095_abnormal_skin_pigmentation1.17795476
99MP0000049_abnormal_middle_ear1.17728731
100MP0006072_abnormal_retinal_apoptosis1.17623787
101MP0003861_abnormal_nervous_system1.17334957
102MP0003984_embryonic_growth_retardation1.17317598
103MP0003943_abnormal_hepatobiliary_system1.17279791
104MP0001529_abnormal_vocalization1.16969286
105MP0002088_abnormal_embryonic_growth/wei1.16659040
106MP0003755_abnormal_palate_morphology1.16292090
107MP0003942_abnormal_urinary_system1.16217109
108MP0003448_altered_tumor_morphology1.15820918
109MP0002111_abnormal_tail_morphology1.13660119
110MP0001299_abnormal_eye_distance/1.13501066
111MP0002160_abnormal_reproductive_system1.13149270
112MP0005645_abnormal_hypothalamus_physiol1.13062641
113MP0009697_abnormal_copulation1.11782934
114MP0003866_abnormal_defecation1.10790230
115MP0001730_embryonic_growth_arrest1.08902725
116MP0003303_peritoneal_inflammation1.08682438
117MP0005248_abnormal_Harderian_gland1.08540348
118MP0002751_abnormal_autonomic_nervous1.06807470
119MP0000465_gastrointestinal_hemorrhage1.06415043
120MP0003935_abnormal_craniofacial_develop1.05246884
121MP0000858_altered_metastatic_potential1.04425382
122MP0000681_abnormal_thyroid_gland1.04220773
123MP0002928_abnormal_bile_duct1.04124796
124MP0002102_abnormal_ear_morphology1.02717710
125MP0009379_abnormal_foot_pigmentation1.00533455
126MP0008469_abnormal_protein_level0.99183006
127MP0005391_vision/eye_phenotype0.98285228
128MP0003077_abnormal_cell_cycle0.95954236
129MP0003121_genomic_imprinting0.95142201
130MP0003880_abnormal_central_pattern0.94758939
131MP0002019_abnormal_tumor_incidence0.92892799
132MP0000383_abnormal_hair_follicle0.91298046
133MP0002638_abnormal_pupillary_reflex0.90682172
134MP0004264_abnormal_extraembryonic_tissu0.90319342
135MP0002234_abnormal_pharynx_morphology0.89525302
136MP0002080_prenatal_lethality0.87388595
137MP0002877_abnormal_melanocyte_morpholog0.86830664
138MP0003315_abnormal_perineum_morphology0.86573839
139MP0000432_abnormal_head_morphology0.86337087
140MP0001188_hyperpigmentation0.85398739
141MP0009278_abnormal_bone_marrow0.85186921
142MP0003191_abnormal_cellular_cholesterol0.84955854
143MP0003938_abnormal_ear_development0.84396689
144MP0006276_abnormal_autonomic_nervous0.84357727
145MP0003115_abnormal_respiratory_system0.83185378
146MP0000372_irregular_coat_pigmentation0.82604091
147MP0003385_abnormal_body_wall0.82592849
148MP0010678_abnormal_skin_adnexa0.82179666
149MP0002163_abnormal_gland_morphology0.81160897
150MP0000350_abnormal_cell_proliferation0.79722818
151MP0005058_abnormal_lysosome_morphology0.79303828
152MP0002184_abnormal_innervation0.78293290
153MP0005084_abnormal_gallbladder_morpholo0.77923388
154MP0002086_abnormal_extraembryonic_tissu0.76719319
155MP0002081_perinatal_lethality0.76524859
156MP0000313_abnormal_cell_death0.76222166
157MP0000955_abnormal_spinal_cord0.75476019
158MP0004782_abnormal_surfactant_physiolog0.74921471
159MP0000371_diluted_coat_color0.73838605
160MP0010386_abnormal_urinary_bladder0.73448426
161MP0001145_abnormal_male_reproductive0.72958275
162MP0005195_abnormal_posterior_eye0.72686057
163MP0001177_atelectasis0.71822835
164MP0002132_abnormal_respiratory_system0.71247569
165MP0002210_abnormal_sex_determination0.71243984
166MP0002876_abnormal_thyroid_physiology0.70203632
167MP0000613_abnormal_salivary_gland0.69643460
168MP0010307_abnormal_tumor_latency0.69587465
169MP0002116_abnormal_craniofacial_bone0.69491168
170MP0000462_abnormal_digestive_system0.68875012
171MP0005253_abnormal_eye_physiology0.68510740
172MP0009384_cardiac_valve_regurgitation0.68430391
173MP0000653_abnormal_sex_gland0.67971012
174MP0005220_abnormal_exocrine_pancreas0.66565221
175MP0005503_abnormal_tendon_morphology0.65947999
176MP0003045_fibrosis0.65480385
177MP0003786_premature_aging0.64275887
178MP0008877_abnormal_DNA_methylation0.64204281
179MP0004883_abnormal_blood_vessel0.62841635
180MP0002998_abnormal_bone_remodeling0.62703856
181MP0008438_abnormal_cutaneous_collagen0.61846443
182MP0002693_abnormal_pancreas_physiology0.60829513
183MP0004957_abnormal_blastocyst_morpholog0.60089367
184MP0002075_abnormal_coat/hair_pigmentati0.59689106

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)4.74461221
2Aplastic anemia (HP:0001915)4.27706699
3Recurrent bacterial skin infections (HP:0005406)4.04618527
4Hepatoblastoma (HP:0002884)3.93482320
5Eczematoid dermatitis (HP:0000976)3.75304951
6Chromosomal breakage induced by crosslinking agents (HP:0003221)3.65776615
7IgM deficiency (HP:0002850)3.56360901
8Myositis (HP:0100614)3.38891413
9Elevated erythrocyte sedimentation rate (HP:0003565)3.30606857
10Thrombocytosis (HP:0001894)3.29683796
11Mediastinal lymphadenopathy (HP:0100721)3.26652827
12Recurrent fungal infections (HP:0002841)3.22440563
13Recurrent viral infections (HP:0004429)3.16710767
14Abnormality of the labia minora (HP:0012880)3.14372688
15Abnormality of the prostate (HP:0008775)3.13880704
16Hypothermia (HP:0002045)3.11281329
17Chronic otitis media (HP:0000389)3.08189350
18Septo-optic dysplasia (HP:0100842)3.04933375
19Abnormality of T cells (HP:0002843)2.99621792
20Agnosia (HP:0010524)2.98881460
21Meningitis (HP:0001287)2.95786650
22Nephroblastoma (Wilms tumor) (HP:0002667)2.92809110
23Chronic obstructive pulmonary disease (HP:0006510)2.92358281
24Obstructive lung disease (HP:0006536)2.92358281
25T lymphocytopenia (HP:0005403)2.89484506
26Panhypogammaglobulinemia (HP:0003139)2.89195700
27Colon cancer (HP:0003003)2.83894631
28Embryonal renal neoplasm (HP:0011794)2.80500285
29Thyroiditis (HP:0100646)2.76959251
30Abnormal hair whorl (HP:0010721)2.76817563
31Meckel diverticulum (HP:0002245)2.76327583
32Agammaglobulinemia (HP:0004432)2.75827494
33Abnormality of the ileum (HP:0001549)2.75749570
34Abnormality of T cell number (HP:0011839)2.75716334
35Lymphopenia (HP:0001888)2.74973375
36Bifid tongue (HP:0010297)2.70486823
37Spontaneous hematomas (HP:0007420)2.68389082
38Optic nerve hypoplasia (HP:0000609)2.67116855
39Neoplasm of the adrenal cortex (HP:0100641)2.66353096
40Recurrent bronchitis (HP:0002837)2.62975113
41Volvulus (HP:0002580)2.62381693
42Periodontitis (HP:0000704)2.61804987
43Recurrent skin infections (HP:0001581)2.61510643
44Abnormality of T cell physiology (HP:0011840)2.60933305
45Abnormality of chromosome stability (HP:0003220)2.60663870
46Abnormality of cells of the lymphoid lineage (HP:0012140)2.58230670
47Aplasia/Hypoplasia of the uvula (HP:0010293)2.57862333
48Orchitis (HP:0100796)2.55742011
49Recurrent cutaneous fungal infections (HP:0011370)2.54284852
50Chronic mucocutaneous candidiasis (HP:0002728)2.54284852
51Petechiae (HP:0000967)2.53557074
52Hematochezia (HP:0002573)2.49911337
53Cellulitis (HP:0100658)2.49582662
54Abnormal lung lobation (HP:0002101)2.49387310
55Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.47484611
56Optic neuritis (HP:0100653)2.47363481
57Retrobulbar optic neuritis (HP:0100654)2.47363481
58Type I transferrin isoform profile (HP:0003642)2.46216068
59Intestinal atresia (HP:0011100)2.45789399
60Osteomyelitis (HP:0002754)2.44056433
61Prolonged bleeding time (HP:0003010)2.43955564
62Pulmonary infiltrates (HP:0002113)2.43477629
63Asymmetry of the thorax (HP:0001555)2.42465687
64Pancytopenia (HP:0001876)2.38667423
65Neutropenia (HP:0001875)2.38445991
66Hyperglycinemia (HP:0002154)2.36994132
67Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.36243059
68Acute lymphatic leukemia (HP:0006721)2.36000207
69Acute myeloid leukemia (HP:0004808)2.34386727
70Rhabdomyosarcoma (HP:0002859)2.32043708
71IgG deficiency (HP:0004315)2.30254998
72Gingivitis (HP:0000230)2.29729242
73Lymphoma (HP:0002665)2.29455554
74Chronic diarrhea (HP:0002028)2.28972559
75Ependymoma (HP:0002888)2.28725547
76Encephalitis (HP:0002383)2.28477860
77Abnormality of macrophages (HP:0004311)2.27303570
78Abnormal delayed hypersensitivity skin test (HP:0002963)2.23588336
79Cortical dysplasia (HP:0002539)2.18309151
80Arterial thrombosis (HP:0004420)2.17368440
81Increased neuronal autofluorescent lipopigment (HP:0002074)2.17115228
82Medulloblastoma (HP:0002885)2.16864094
83Anophthalmia (HP:0000528)2.16661105
84Vasculitis (HP:0002633)2.14400498
85Pulmonary fibrosis (HP:0002206)2.14242913
86Aqueductal stenosis (HP:0002410)2.13672376
87High anterior hairline (HP:0009890)2.13424749
88Reduced antithrombin III activity (HP:0001976)2.11206798
89Hemoptysis (HP:0002105)2.10827717
90Reticulocytopenia (HP:0001896)2.08787503
91Agitation (HP:0000713)2.08742936
92Amaurosis fugax (HP:0100576)2.07944522
93Stenosis of the external auditory canal (HP:0000402)2.07506497
94Absent eyebrow (HP:0002223)2.06567230
95Poikiloderma (HP:0001029)2.05608015
96Abnormality of the aortic arch (HP:0012303)2.05562410
97Pendular nystagmus (HP:0012043)2.05165262
98Biliary tract neoplasm (HP:0100574)2.04100892
99Autoimmune thrombocytopenia (HP:0001973)2.04031410
100Small intestinal stenosis (HP:0012848)2.03496138
101Duodenal stenosis (HP:0100867)2.03496138
102Abnormality of the duodenum (HP:0002246)2.03283060
103Myelodysplasia (HP:0002863)2.03003987
104Triphalangeal thumb (HP:0001199)2.01371734
105Hyperinsulinemic hypoglycemia (HP:0000825)2.01091819
106Increased cerebral lipofuscin (HP:0011813)2.00260594
107Absent radius (HP:0003974)2.00032319
108Epistaxis (HP:0000421)1.99638999
109Recurrent gram-negative bacterial infections (HP:0005420)1.99197456
110Cheilitis (HP:0100825)1.98932876
111Increased IgM level (HP:0003496)1.97988191
112Abnormality of the pleura (HP:0002103)1.97926963
113Abnormality of the preputium (HP:0100587)1.97858318
114Stomatitis (HP:0010280)1.95713028
115Bilateral microphthalmos (HP:0007633)1.94088907
116Absent septum pellucidum (HP:0001331)1.93709644
117Long clavicles (HP:0000890)1.93336625
118Ectopic kidney (HP:0000086)1.93231261
119Aplasia/Hypoplasia of the sternum (HP:0006714)1.92437381
120Facial cleft (HP:0002006)1.91710944
121Inflammation of the large intestine (HP:0002037)1.89734114
122Abnormality of the septum pellucidum (HP:0007375)1.89570675
123Cutaneous finger syndactyly (HP:0010554)1.89439741
124Abnormal protein glycosylation (HP:0012346)1.88825154
125Abnormal glycosylation (HP:0012345)1.88825154
126Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.88825154
127Abnormal protein N-linked glycosylation (HP:0012347)1.88825154
128Chromsome breakage (HP:0040012)1.88632434
129Leukocytosis (HP:0001974)1.87912207
130Hypoglycemic coma (HP:0001325)1.87883416
131Pancreatic islet-cell hyperplasia (HP:0004510)1.87836187
132Prostate neoplasm (HP:0100787)1.87351707
133Pancreatic fibrosis (HP:0100732)1.87036949
134Hypoglycemic seizures (HP:0002173)1.86751799
135Proximal tubulopathy (HP:0000114)1.86344442
136Abnormality of eosinophils (HP:0001879)1.85921386
137Increased nuchal translucency (HP:0010880)1.85518174
138B lymphocytopenia (HP:0010976)1.85065844
139Abnormality of B cell number (HP:0010975)1.85065844
140Absent forearm bone (HP:0003953)1.84915242
141Aplasia involving forearm bones (HP:0009822)1.84915242
142Preaxial foot polydactyly (HP:0001841)1.84642339
143Albinism (HP:0001022)1.83726100
144Papilledema (HP:0001085)1.83447762
145Diastasis recti (HP:0001540)1.83307882
146Sepsis (HP:0100806)1.82226057
147Recurrent lower respiratory tract infections (HP:0002783)1.82144783
148Glomerulopathy (HP:0100820)1.81865993
149Cutaneous melanoma (HP:0012056)1.81586141
150Vacuolated lymphocytes (HP:0001922)1.81495502
151Joint swelling (HP:0001386)1.80857417
152Papillary thyroid carcinoma (HP:0002895)1.80066090
153Cutaneous syndactyly (HP:0012725)1.77746488
154Embryonal neoplasm (HP:0002898)1.76845129
155Thyroid-stimulating hormone excess (HP:0002925)1.76642618
156Recurrent pneumonia (HP:0006532)1.76596140
157Sloping forehead (HP:0000340)1.76487775
158Abnormal pancreas size (HP:0012094)1.75244011
159Enlarged penis (HP:0000040)1.75045739
160Dandy-Walker malformation (HP:0001305)1.73588035
161Hyperglycinuria (HP:0003108)1.72055886
162True hermaphroditism (HP:0010459)1.71316562
163Labial hypoplasia (HP:0000066)1.70498277
164Preaxial hand polydactyly (HP:0001177)1.70466086
165Horseshoe kidney (HP:0000085)1.69203639
166Renal hypoplasia (HP:0000089)1.68658348
167Duplication of thumb phalanx (HP:0009942)1.68410395
168Vaginal atresia (HP:0000148)1.66525567
169Hypoplastic female external genitalia (HP:0012815)1.66516617
170Abnormality of glycine metabolism (HP:0010895)1.65717357
171Abnormality of serine family amino acid metabolism (HP:0010894)1.65717357
172Neoplasm of the colon (HP:0100273)1.64829613
173Abnormality of the carotid arteries (HP:0005344)1.63920503
174Genital tract atresia (HP:0001827)1.63864508
175Birth length less than 3rd percentile (HP:0003561)1.63586815
176Astrocytoma (HP:0009592)1.63575954
177Abnormality of the astrocytes (HP:0100707)1.63575954
178Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.62942249
179Micropenis (HP:0000054)1.62454451
180Abnormality of cochlea (HP:0000375)1.62313316
181Glioma (HP:0009733)1.62162030
182Vitreoretinal degeneration (HP:0000655)1.60335611
183Optic nerve coloboma (HP:0000588)1.60144091
184Myelomeningocele (HP:0002475)1.59260843
185Abnormality of serum amino acid levels (HP:0003112)1.58655666
186Neoplasm of striated muscle (HP:0009728)1.58391508
187Midline defect of the nose (HP:0004122)1.58305213
188Omphalocele (HP:0001539)1.57754244
189Abnormality of the pancreatic islet cells (HP:0006476)1.57630089
190Abnormality of endocrine pancreas physiology (HP:0012093)1.57630089
191Hypoplastic pelvis (HP:0008839)1.56815356
192Pancreatic cysts (HP:0001737)1.56632927
193Enlarged kidneys (HP:0000105)1.55538618
194Supernumerary spleens (HP:0009799)1.54724137
195Choanal stenosis (HP:0000452)1.54565427
196Broad alveolar ridges (HP:0000187)1.54232844

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK3.96146535
2MAP3K123.61443897
3TEC3.21703944
4MAP4K13.18840378
5FRK2.96174375
6BTK2.88807126
7TTK2.75496427
8KIT2.63706322
9MKNK22.53620274
10STK242.47531025
11SRPK12.33195213
12STK162.23051136
13TGFBR12.10937108
14ITK2.10451758
15ZAK2.09310755
16PBK2.05852435
17PLK42.02900431
18IRAK41.98550799
19ZAP701.98190008
20FLT31.97604733
21FGFR31.92963482
22WEE11.86581710
23TAF11.86347490
24NEK91.79505987
25JAK31.77671659
26SIK31.75670244
27ERBB31.74857306
28SYK1.66802865
29BRSK21.66502752
30TLK11.65046464
31ACVR1B1.60897515
32TRIM281.59955388
33STK31.56903271
34PASK1.56793209
35MAP3K101.55738011
36VRK21.53098564
37EIF2AK31.47431045
38PNCK1.46221085
39EIF2AK11.45800708
40MAP3K141.40675560
41DYRK21.40216519
42TGFBR21.37747109
43FES1.37057158
44BCR1.36332452
45CAMK1D1.35694608
46JAK11.33283949
47LCK1.33022835
48MAP2K71.32218976
49BLK1.32020135
50CSF1R1.29968038
51PLK11.28766941
52CHEK21.25926310
53NLK1.24608909
54CAMKK21.24500876
55LATS11.23594393
56LYN1.22464129
57STK38L1.21759433
58BMPR21.18418000
59NEK11.18027025
60NEK21.17125295
61MAP4K21.14436712
62BUB11.12786840
63VRK11.11672275
64MAP3K41.11450892
65TAOK21.11404917
66TYK21.09270331
67DYRK31.05974376
68FGFR21.05577085
69PKN21.02878993
70FGFR11.02759489
71TAOK31.02679895
72IKBKE1.02089264
73CSNK1G11.01278237
74HCK0.99739631
75STK100.97903855
76ATM0.94725420
77CAMK1G0.94343864
78EIF2AK20.94245357
79BMPR1B0.93176458
80OXSR10.90108569
81IKBKB0.89470991
82AKT30.89256286
83MKNK10.89150136
84ATR0.87747844
85NUAK10.84885488
86EPHA30.79816649
87GRK10.78960347
88CHEK10.78917955
89CSNK1E0.78633052
90TBK10.78619017
91MAPKAPK50.78150453
92AURKB0.77611119
93NME20.76269229
94MARK10.75783912
95SCYL20.74935553
96ERBB40.74643091
97FGFR40.73499930
98TNIK0.70384364
99ALK0.70254538
100CDK30.67580050
101IRAK10.66678214
102RPS6KA40.66432276
103GRK60.65878874
104ADRBK20.65721196
105CSNK1G30.65562204
106CDC70.65167594
107LRRK20.65091033
108CDK10.64294428
109CAMK10.63600043
110PLK30.63409597
111CSNK1G20.62769080
112HIPK20.62675609
113YES10.62649933
114MAPK130.62586125
115CDK20.60770128
116SGK20.59999414
117CHUK0.59769760
118CDK70.59282199
119MAP2K60.56542368
120EPHA40.56338720
121GRK70.55401215
122LATS20.55128345
123CSNK1A1L0.54919662
124CSK0.54645028
125MAP3K130.54401841
126WNK30.54087498
127PLK20.53828172
128CDK190.53405063
129PRKDC0.52586687
130DAPK10.51733451
131TNK20.51456927
132MATK0.50268076
133MINK10.50051430
134AURKA0.49104475
135CDK60.48898449
136BRD40.48699055
137STK390.48572006
138RIPK40.48482885
139CLK10.47941747
140CSNK2A20.46430372
141TIE10.46158583
142INSRR0.45889328
143PRKCE0.45266627
144RPS6KB20.43107900
145RPS6KB10.43098626
146TSSK60.42577165
147PRKCG0.42353067
148PDK20.41805883
149EEF2K0.41196057
150JAK20.40822199
151GSK3B0.39739474
152CASK0.39602042
153MAPK30.39362425
154MAPKAPK20.39196605
155IRAK30.38738478
156MST40.38686730
157SGK2230.37689162
158SGK4940.37689162
159BRSK10.37273257
160TRPM70.36130725
161PAK40.34381649
162PRKCD0.33920400
163PIK3CA0.33527188
164IGF1R0.33021682
165CDK80.32700109
166CDK90.31616134
167SIK20.30766533

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002326.50226044
2Primary immunodeficiency_Homo sapiens_hsa053402.80327849
3Mismatch repair_Homo sapiens_hsa034302.35225338
4DNA replication_Homo sapiens_hsa030302.31610054
5Non-homologous end-joining_Homo sapiens_hsa034502.21911888
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.17787477
7Propanoate metabolism_Homo sapiens_hsa006402.16082343
8Leishmaniasis_Homo sapiens_hsa051401.94374058
9Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.88810593
10Steroid biosynthesis_Homo sapiens_hsa001001.87497518
11Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.85703898
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.83713860
13Base excision repair_Homo sapiens_hsa034101.75284106
14Measles_Homo sapiens_hsa051621.74015493
15Pyruvate metabolism_Homo sapiens_hsa006201.73671098
16Antigen processing and presentation_Homo sapiens_hsa046121.73503114
17Ribosome_Homo sapiens_hsa030101.72310344
18Selenocompound metabolism_Homo sapiens_hsa004501.71862237
19Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.71630327
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.69218986
21Basal cell carcinoma_Homo sapiens_hsa052171.67039651
22Cysteine and methionine metabolism_Homo sapiens_hsa002701.66424573
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.62988491
24NF-kappa B signaling pathway_Homo sapiens_hsa040641.60207928
25Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.59415115
26Protein export_Homo sapiens_hsa030601.52840853
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.50483519
28Hematopoietic cell lineage_Homo sapiens_hsa046401.49762930
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.46536233
30B cell receptor signaling pathway_Homo sapiens_hsa046621.45406682
31Homologous recombination_Homo sapiens_hsa034401.43977866
32Legionellosis_Homo sapiens_hsa051341.42636355
33RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.42519553
34Osteoclast differentiation_Homo sapiens_hsa043801.38839149
35Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.36595378
36Butanoate metabolism_Homo sapiens_hsa006501.36178316
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.34303722
38Basal transcription factors_Homo sapiens_hsa030221.34189980
39Toll-like receptor signaling pathway_Homo sapiens_hsa046201.33843921
40Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.31661398
41Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.31345229
42Maturity onset diabetes of the young_Homo sapiens_hsa049501.30278186
43T cell receptor signaling pathway_Homo sapiens_hsa046601.28139801
44Other glycan degradation_Homo sapiens_hsa005111.27220058
45Allograft rejection_Homo sapiens_hsa053301.27030009
46Herpes simplex infection_Homo sapiens_hsa051681.26062870
47Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.26020574
48Hippo signaling pathway_Homo sapiens_hsa043901.25793392
49Hedgehog signaling pathway_Homo sapiens_hsa043401.25446148
50RNA polymerase_Homo sapiens_hsa030201.25293058
51Biosynthesis of amino acids_Homo sapiens_hsa012301.23929168
52Lysine degradation_Homo sapiens_hsa003101.23576641
53Jak-STAT signaling pathway_Homo sapiens_hsa046301.23388494
54Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.20253947
55Pentose and glucuronate interconversions_Homo sapiens_hsa000401.10823197
56Vitamin B6 metabolism_Homo sapiens_hsa007501.10113921
57Pertussis_Homo sapiens_hsa051331.10038250
58Glycosaminoglycan degradation_Homo sapiens_hsa005311.09577763
59Spliceosome_Homo sapiens_hsa030401.07981675
60Hepatitis B_Homo sapiens_hsa051611.07169665
61Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.04272712
62Carbon metabolism_Homo sapiens_hsa012001.04258115
63Nucleotide excision repair_Homo sapiens_hsa034201.03995958
64Malaria_Homo sapiens_hsa051441.03986903
65Rheumatoid arthritis_Homo sapiens_hsa053231.03490676
66Influenza A_Homo sapiens_hsa051641.02643509
67Transcriptional misregulation in cancer_Homo sapiens_hsa052021.01202881
68TNF signaling pathway_Homo sapiens_hsa046680.99775526
69Wnt signaling pathway_Homo sapiens_hsa043100.98822486
70NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96757291
71Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.95890413
72Type I diabetes mellitus_Homo sapiens_hsa049400.95397466
73Tuberculosis_Homo sapiens_hsa051520.95175894
74Proteasome_Homo sapiens_hsa030500.95064512
75N-Glycan biosynthesis_Homo sapiens_hsa005100.94593707
76Epstein-Barr virus infection_Homo sapiens_hsa051690.94444801
77Toxoplasmosis_Homo sapiens_hsa051450.93669476
78Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.93639091
79Fatty acid degradation_Homo sapiens_hsa000710.93628433
80* Pyrimidine metabolism_Homo sapiens_hsa002400.92902792
81Vitamin digestion and absorption_Homo sapiens_hsa049770.91222976
82TGF-beta signaling pathway_Homo sapiens_hsa043500.90614953
83Cell cycle_Homo sapiens_hsa041100.90492841
84Apoptosis_Homo sapiens_hsa042100.89684173
85Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.88898308
86Fanconi anemia pathway_Homo sapiens_hsa034600.88019518
87Oocyte meiosis_Homo sapiens_hsa041140.87856135
88Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.87635669
89Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.87338174
90Asthma_Homo sapiens_hsa053100.86672107
91Fatty acid metabolism_Homo sapiens_hsa012120.85568726
92Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.84564638
93Platelet activation_Homo sapiens_hsa046110.84338148
94Shigellosis_Homo sapiens_hsa051310.84309714
95Drug metabolism - other enzymes_Homo sapiens_hsa009830.82235403
96Chemokine signaling pathway_Homo sapiens_hsa040620.80184503
97Arginine and proline metabolism_Homo sapiens_hsa003300.78109995
98RNA degradation_Homo sapiens_hsa030180.77776146
992-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.77352801
100Adherens junction_Homo sapiens_hsa045200.75472429
101Phagosome_Homo sapiens_hsa041450.75441472
102Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73278385
103beta-Alanine metabolism_Homo sapiens_hsa004100.72746612
104Pentose phosphate pathway_Homo sapiens_hsa000300.72674216
105RNA transport_Homo sapiens_hsa030130.72533813
106Graft-versus-host disease_Homo sapiens_hsa053320.72428966
107Tight junction_Homo sapiens_hsa045300.70881523
108Fatty acid elongation_Homo sapiens_hsa000620.70637827
109SNARE interactions in vesicular transport_Homo sapiens_hsa041300.70254919
110Lysosome_Homo sapiens_hsa041420.70160153
111Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.70101190
112Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.69567708
113Acute myeloid leukemia_Homo sapiens_hsa052210.69120413
114Retinol metabolism_Homo sapiens_hsa008300.69069864
115Viral carcinogenesis_Homo sapiens_hsa052030.68538971
116Pancreatic cancer_Homo sapiens_hsa052120.68388443
117Colorectal cancer_Homo sapiens_hsa052100.68163077
118Prolactin signaling pathway_Homo sapiens_hsa049170.67488704
119HTLV-I infection_Homo sapiens_hsa051660.65849016
120Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.64429103
121Arginine biosynthesis_Homo sapiens_hsa002200.63639234
122Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.63581839
123Tryptophan metabolism_Homo sapiens_hsa003800.60490132
124MicroRNAs in cancer_Homo sapiens_hsa052060.58083095
125Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.58069691
126Alcoholism_Homo sapiens_hsa050340.57092325
127Autoimmune thyroid disease_Homo sapiens_hsa053200.56566856
128Axon guidance_Homo sapiens_hsa043600.55937389
129Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.55540303
130Steroid hormone biosynthesis_Homo sapiens_hsa001400.55516887
131Leukocyte transendothelial migration_Homo sapiens_hsa046700.55346800
132Vibrio cholerae infection_Homo sapiens_hsa051100.54897180
133Hepatitis C_Homo sapiens_hsa051600.51843587
134Primary bile acid biosynthesis_Homo sapiens_hsa001200.51703511
135p53 signaling pathway_Homo sapiens_hsa041150.51077203
136Phototransduction_Homo sapiens_hsa047440.50557493
137Glutathione metabolism_Homo sapiens_hsa004800.50113415
138Central carbon metabolism in cancer_Homo sapiens_hsa052300.49076651
139Purine metabolism_Homo sapiens_hsa002300.48040498
140* Metabolic pathways_Homo sapiens_hsa011000.47672063
141Viral myocarditis_Homo sapiens_hsa054160.47362244
142Starch and sucrose metabolism_Homo sapiens_hsa005000.47155860
143Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47009076
144mRNA surveillance pathway_Homo sapiens_hsa030150.46230135
145Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.45691802
146Salmonella infection_Homo sapiens_hsa051320.45689247
147Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.44138436
148Neurotrophin signaling pathway_Homo sapiens_hsa047220.43964050
149Peroxisome_Homo sapiens_hsa041460.43430058
150Chronic myeloid leukemia_Homo sapiens_hsa052200.43196184
151AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.42753700
152Collecting duct acid secretion_Homo sapiens_hsa049660.42724413
153African trypanosomiasis_Homo sapiens_hsa051430.42167153
154Taste transduction_Homo sapiens_hsa047420.41734264
155Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.40449181
156Systemic lupus erythematosus_Homo sapiens_hsa053220.39881791
157Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.39685037
158Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37459856
159FoxO signaling pathway_Homo sapiens_hsa040680.36961868
160Huntingtons disease_Homo sapiens_hsa050160.36924852
161Melanoma_Homo sapiens_hsa052180.36421762
162Thyroid cancer_Homo sapiens_hsa052160.35864215
163Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.35303266
164Melanogenesis_Homo sapiens_hsa049160.34486620
165One carbon pool by folate_Homo sapiens_hsa006700.34090958
166Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.33580279
167Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.33027359
168Nicotine addiction_Homo sapiens_hsa050330.32685613
169Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.31437542
170Renin-angiotensin system_Homo sapiens_hsa046140.30555152
171Glucagon signaling pathway_Homo sapiens_hsa049220.29264990

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