SPOCD1

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 that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1male meiosis (GO:0007140)9.14771037
2regulation of meiosis I (GO:0060631)8.23686161
3synaptonemal complex assembly (GO:0007130)7.96319377
4synaptonemal complex organization (GO:0070193)7.22706588
5gene silencing by RNA (GO:0031047)6.52932759
6meiotic nuclear division (GO:0007126)6.15587518
7DNA alkylation (GO:0006305)6.07536301
8DNA methylation (GO:0006306)6.07536301
9regulation of meiosis (GO:0040020)5.98737527
10meiotic cell cycle (GO:0051321)5.66312863
11mitotic chromosome condensation (GO:0007076)5.52729541
12female gamete generation (GO:0007292)5.51082547
13negative regulation of meiosis (GO:0045835)5.42009159
14male meiosis I (GO:0007141)5.35425953
15attachment of spindle microtubules to kinetochore (GO:0008608)5.32997694
16chromosome organization involved in meiosis (GO:0070192)5.05833764
17cell adhesion mediated by integrin (GO:0033627)4.88405723
18mitotic sister chromatid cohesion (GO:0007064)4.86271074
19oocyte maturation (GO:0001556)4.85237218
20meiosis I (GO:0007127)4.83279746
21mitotic metaphase plate congression (GO:0007080)4.81989580
22meiotic chromosome segregation (GO:0045132)4.76500153
23regulation of meiotic cell cycle (GO:0051445)4.76171698
24endodermal cell differentiation (GO:0035987)4.76159667
25sister chromatid cohesion (GO:0007062)4.72631890
26regulation of integrin-mediated signaling pathway (GO:2001044)4.65426870
27positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)4.64158668
28regulation of DNA methylation (GO:0044030)4.62191108
29DNA damage induced protein phosphorylation (GO:0006975)4.58967087
30meiotic cell cycle process (GO:1903046)4.57839460
31monoubiquitinated protein deubiquitination (GO:0035520)4.54528801
32DNA methylation or demethylation (GO:0044728)4.51164852
33regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.45966127
34negative regulation of retinoic acid receptor signaling pathway (GO:0048387)4.44473453
35metaphase plate congression (GO:0051310)4.40483764
36positive regulation of meiosis (GO:0045836)4.39439273
37oogenesis (GO:0048477)4.33762547
38gene silencing (GO:0016458)4.31989537
39regulation of female gonad development (GO:2000194)4.31682068
40positive regulation of meiotic cell cycle (GO:0051446)4.21340318
41mitotic sister chromatid segregation (GO:0000070)4.20592580
42protein heterotrimerization (GO:0070208)4.18859747
43histone H2A monoubiquitination (GO:0035518)4.15266628
44collagen fibril organization (GO:0030199)4.09314588
45skin morphogenesis (GO:0043589)4.05235584
46chondrocyte proliferation (GO:0035988)4.05097454
47substrate-dependent cell migration (GO:0006929)4.04125474
48positive regulation of megakaryocyte differentiation (GO:0045654)3.97343740
49regulation of histone H3-K27 methylation (GO:0061085)3.91604293
50negative regulation of meiotic cell cycle (GO:0051447)3.88982700
51protein localization to chromosome (GO:0034502)3.86120724
52negative regulation of nitric-oxide synthase activity (GO:0051001)3.85747946
53wound healing, spreading of epidermal cells (GO:0035313)3.84874907
54kinetochore assembly (GO:0051382)3.82683975
55maturation of 5.8S rRNA (GO:0000460)3.80010154
56regulation of sister chromatid cohesion (GO:0007063)3.76854974
57DNA modification (GO:0006304)3.73844710
58negative regulation of histone methylation (GO:0031061)3.72530523
59reciprocal DNA recombination (GO:0035825)3.72042448
60reciprocal meiotic recombination (GO:0007131)3.72042448
61microtubule nucleation (GO:0007020)3.71649330
62regulation of double-strand break repair via homologous recombination (GO:0010569)3.71619804
63platelet aggregation (GO:0070527)3.71534274
64DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.70971532
65regulation of exit from mitosis (GO:0007096)3.69970668
66establishment of chromosome localization (GO:0051303)3.68095339
67chromosome segregation (GO:0007059)3.64786809
68DNA damage response, signal transduction resulting in transcription (GO:0042772)3.59077540
69kinetochore organization (GO:0051383)3.55413017
70negative regulation of smooth muscle cell migration (GO:0014912)3.54639188
71regulation of retinoic acid receptor signaling pathway (GO:0048385)3.54252229
72extracellular fibril organization (GO:0043206)3.53764748
73stress fiber assembly (GO:0043149)3.53008411
74regulation of chromosome segregation (GO:0051983)3.51688533
75negative regulation of homotypic cell-cell adhesion (GO:0034111)3.49953547
76protein K6-linked ubiquitination (GO:0085020)3.47418937
77response to magnesium ion (GO:0032026)3.47284135
78negative regulation of hormone metabolic process (GO:0032351)3.46511244
79negative regulation of hormone biosynthetic process (GO:0032353)3.46511244
80protein localization to chromosome, centromeric region (GO:0071459)3.45493106
81barbed-end actin filament capping (GO:0051016)3.44652427
82regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.43690425
83positive regulation of receptor recycling (GO:0001921)3.42826453
84negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.42437768
85protein localization to kinetochore (GO:0034501)3.40938380
86type B pancreatic cell proliferation (GO:0044342)3.40899756
87cellular response to vitamin (GO:0071295)3.40463926
88mitotic nuclear envelope disassembly (GO:0007077)3.39971952
89histone H2A ubiquitination (GO:0033522)3.39863964
90virion attachment to host cell (GO:0019062)3.39009658
91adhesion of symbiont to host cell (GO:0044650)3.39009658
92positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.38845140
93regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.38149470
94positive regulation of blood vessel endothelial cell migration (GO:0043536)3.37930091
95sister chromatid segregation (GO:0000819)3.37756940
96spindle checkpoint (GO:0031577)3.37756596
97mesodermal cell differentiation (GO:0048333)3.32620092
98cellular response to vitamin D (GO:0071305)3.30809327
99sequestering of extracellular ligand from receptor (GO:0035581)3.30801156
100positive regulation of axon extension (GO:0045773)3.26612179
101inner cell mass cell proliferation (GO:0001833)3.24880260
102negative regulation of nuclear division (GO:0051784)3.24626292
103mitotic spindle checkpoint (GO:0071174)3.24561428
104positive regulation of endothelial cell apoptotic process (GO:2000353)3.23656772
105regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.22202958
106platelet degranulation (GO:0002576)3.21492676
107membrane disassembly (GO:0030397)3.20054771
108nuclear envelope disassembly (GO:0051081)3.20054771
109glycerophospholipid catabolic process (GO:0046475)3.19607263
110negative regulation of platelet activation (GO:0010544)3.19052462
111wound healing, spreading of cells (GO:0044319)3.18935112
112hypotonic response (GO:0006971)3.16980584
113negative regulation of chromosome segregation (GO:0051985)3.16949300
114fibril organization (GO:0097435)3.15281651
115nuclear pore organization (GO:0006999)3.15086306
116mitotic spindle assembly checkpoint (GO:0007094)3.14548457
117chromatin remodeling at centromere (GO:0031055)3.13655241
118adhesion of symbiont to host (GO:0044406)3.12609478
119decidualization (GO:0046697)3.12424702
120negative regulation of mitotic sister chromatid separation (GO:2000816)3.11584025
121negative regulation of mitotic sister chromatid segregation (GO:0033048)3.11584025
122negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.11584025
123negative regulation of sister chromatid segregation (GO:0033046)3.11584025
124collagen metabolic process (GO:0032963)3.11367067
125microtubule severing (GO:0051013)3.11293625
126spindle assembly checkpoint (GO:0071173)3.10561514
127gamete generation (GO:0007276)3.08395722
128protein localization to endosome (GO:0036010)3.08055732
129positive regulation of osteoblast proliferation (GO:0033690)3.06661744
130DNA replication checkpoint (GO:0000076)3.06634953
131negative regulation of cell division (GO:0051782)3.06294149
132regulation of integrin activation (GO:0033623)3.05983385
133histone exchange (GO:0043486)3.03567080
134DNA replication-independent nucleosome assembly (GO:0006336)3.02628038
135DNA replication-independent nucleosome organization (GO:0034724)3.02628038
136substrate adhesion-dependent cell spreading (GO:0034446)3.02398246
137bone trabecula formation (GO:0060346)3.01747831
138hyaluronan catabolic process (GO:0030214)3.00525369
139heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.99599104
140regulation of sister chromatid segregation (GO:0033045)2.99327471
141regulation of mitotic sister chromatid separation (GO:0010965)2.99327471
142regulation of mitotic sister chromatid segregation (GO:0033047)2.99327471
143collagen catabolic process (GO:0030574)2.99066061
144regulation of mitotic metaphase/anaphase transition (GO:0030071)2.98053927
145negative regulation of protein localization to cell surface (GO:2000009)2.96706181
146nuclear division (GO:0000280)2.96660754
147tooth mineralization (GO:0034505)2.94028138
148positive regulation of extracellular matrix organization (GO:1903055)2.92274820
149cell migration involved in heart development (GO:0060973)2.92023159
150negative regulation of monooxygenase activity (GO:0032769)2.89485113
151negative regulation of adherens junction organization (GO:1903392)2.89092306
152negative regulation of focal adhesion assembly (GO:0051895)2.89092306
153negative regulation of cell junction assembly (GO:1901889)2.89092306
154negative regulation of nitric oxide biosynthetic process (GO:0045019)2.86786399
155regulation of early endosome to late endosome transport (GO:2000641)2.84522707
156positive regulation of fibroblast migration (GO:0010763)2.83872121
157cell-substrate junction assembly (GO:0007044)2.79274991
158apoptotic cell clearance (GO:0043277)2.78543293
159regulation of homotypic cell-cell adhesion (GO:0034110)2.78172253
160positive regulation of macrophage differentiation (GO:0045651)2.77336305
161multicellular organismal macromolecule metabolic process (GO:0044259)2.77089953
162blood vessel maturation (GO:0001955)2.76290396
163angiogenesis involved in wound healing (GO:0060055)2.74013617
164phagocytosis, engulfment (GO:0006911)2.73804819
165regulation of platelet aggregation (GO:0090330)2.73570080
166vascular endothelial growth factor signaling pathway (GO:0038084)2.73550953
167chondroitin sulfate biosynthetic process (GO:0030206)2.71033830
168positive regulation of endothelial cell migration (GO:0010595)2.70018959
169retina vasculature morphogenesis in camera-type eye (GO:0061299)2.69427954
170regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.68718712
171endothelial cell morphogenesis (GO:0001886)2.68355557
172multicellular organismal catabolic process (GO:0044243)2.66980130
173dermatan sulfate biosynthetic process (GO:0030208)2.66807576
174negative regulation of axon extension involved in axon guidance (GO:0048843)2.65560013
175dermatan sulfate metabolic process (GO:0030205)2.65505337
176negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.65349442
177phagocytosis, recognition (GO:0006910)2.65239184
178extracellular matrix assembly (GO:0085029)2.64879033
179extracellular matrix disassembly (GO:0022617)2.64450560
180kidney mesenchyme development (GO:0072074)2.64300436
181membrane raft organization (GO:0031579)2.60923870
182basement membrane organization (GO:0071711)2.60390205
183multicellular organismal metabolic process (GO:0044236)2.60353765
184regulation of platelet activation (GO:0010543)2.59347651
185endocytic recycling (GO:0032456)2.58229195
186vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.57440185
187mesenchymal-epithelial cell signaling (GO:0060638)2.57273979
188endocardial cushion development (GO:0003197)2.57213987
189thrombin receptor signaling pathway (GO:0070493)2.55266470
190integrin-mediated signaling pathway (GO:0007229)2.55115802
191adenosine receptor signaling pathway (GO:0001973)2.53221156
192response to vitamin D (GO:0033280)2.52860467
193regulation of smooth muscle cell migration (GO:0014910)2.52524415
194negative regulation of neural precursor cell proliferation (GO:2000178)2.50855374
195venous blood vessel morphogenesis (GO:0048845)2.49407044
196extracellular matrix organization (GO:0030198)2.48920592
197extracellular structure organization (GO:0043062)2.48164926
198membrane invagination (GO:0010324)2.46778327
199piRNA metabolic process (GO:0034587)14.6336966
200DNA methylation involved in gamete generation (GO:0043046)11.7827752

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.38449602
2FOXM1_23109430_ChIP-Seq_U2OS_Human5.08716722
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.12479586
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.98174357
5TRIM28_21343339_ChIP-Seq_HEK293_Human3.79023027
6FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.55936443
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.25860805
8AR_21909140_ChIP-Seq_LNCAP_Human3.23568222
9MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.12422293
10TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.04457548
11KAP1_22055183_ChIP-Seq_ESCs_Mouse2.96552580
12GATA1_26923725_Chip-Seq_HPCs_Mouse2.93143600
13GATA2_21666600_ChIP-Seq_HMVEC_Human2.76883029
14NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.62088405
15* BRD4_25478319_ChIP-Seq_HGPS_Human2.55984072
16CJUN_26792858_Chip-Seq_BT549_Human2.50689182
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.37252183
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.35618077
19Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.24680420
20RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.24493073
21E2F4_17652178_ChIP-ChIP_JURKAT_Human2.20086378
22TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.19267846
23JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.17153719
24JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.16800843
25SALL1_21062744_ChIP-ChIP_HESCs_Human2.16690482
26WT1_19549856_ChIP-ChIP_CCG9911_Human2.16132428
27KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.14503790
28* SMAD_19615063_ChIP-ChIP_OVARY_Human2.13835504
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.13524995
30ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.10750035
31* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.08136094
32RUNX1_26923725_Chip-Seq_HPCs_Mouse2.06979935
33LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.04751938
34ELK3_25401928_ChIP-Seq_HUVEC_Human2.02983265
35TP63_17297297_ChIP-ChIP_HaCaT_Human1.99029394
36NRF2_20460467_ChIP-Seq_MEFs_Mouse1.94391546
37NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.94391546
38FLI1_27457419_Chip-Seq_LIVER_Mouse1.90228364
39* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.88997785
40* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.87392943
41FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.85357007
42RNF2_27304074_Chip-Seq_NSC_Mouse1.84514337
43CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.80914699
44TP63_19390658_ChIP-ChIP_HaCaT_Human1.76913143
45E2F1_21310950_ChIP-Seq_MCF-7_Human1.76769567
46PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.76602625
47* LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.75145547
48NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.73793060
49ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.72610607
50TP53_16413492_ChIP-PET_HCT116_Human1.71817682
51E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.71426578
52FUS_26573619_Chip-Seq_HEK293_Human1.70741076
53MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.69840678
54RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.68842399
55RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.63953903
56HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.61753644
57TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.61086387
58PPAR_26484153_Chip-Seq_NCI-H1993_Human1.58108153
59TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.58059739
60ESR2_21235772_ChIP-Seq_MCF-7_Human1.56228842
61RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.55686608
62EZH2_22144423_ChIP-Seq_EOC_Human1.55110420
63SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.52826420
64CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.52644064
65POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.51504354
66TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51504354
67PCGF2_27294783_Chip-Seq_ESCs_Mouse1.50409647
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.48502272
69MYB_21317192_ChIP-Seq_ERMYB_Mouse1.48403839
70ELK4_26923725_Chip-Seq_MESODERM_Mouse1.47022610
71EP300_21415370_ChIP-Seq_HL-1_Mouse1.46106902
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45982797
73SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.45238569
74SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.45238569
75AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.44672366
76TP53_18474530_ChIP-ChIP_U2OS_Human1.40547294
77ESR1_21235772_ChIP-Seq_MCF-7_Human1.39255224
78MYCN_18555785_ChIP-Seq_MESCs_Mouse1.38584678
79TP53_22127205_ChIP-Seq_IMR90_Human1.36812345
80EED_16625203_ChIP-ChIP_MESCs_Mouse1.35270843
81SMC1_22415368_ChIP-Seq_MEFs_Mouse1.34465921
82NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.34087622
83RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33998486
84CDX2_22108803_ChIP-Seq_LS180_Human1.33922088
85KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.33142662
86POU3F2_20337985_ChIP-ChIP_501MEL_Human1.32822224
87SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.32610162
88IGF1R_20145208_ChIP-Seq_DFB_Human1.31619373
89HIF1A_21447827_ChIP-Seq_MCF-7_Human1.30849900
90IRF8_27001747_Chip-Seq_BMDM_Mouse1.28310529
91TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.28251863
92IRF8_21731497_ChIP-ChIP_J774_Mouse1.28086677
93* STAT3_23295773_ChIP-Seq_U87_Human1.25632004
94* GATA3_21867929_ChIP-Seq_TH1_Mouse1.25358212
95* TP53_23651856_ChIP-Seq_MEFs_Mouse1.24403646
96NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.23325438
97CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.22312383
98CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.22011113
99CLOCK_20551151_ChIP-Seq_293T_Human1.21234145
100PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.21087235
101THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.17369930
102SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.17116670
103NANOG_18555785_Chip-Seq_ESCs_Mouse1.16967528
104VDR_24787735_ChIP-Seq_THP-1_Human1.16391856
105P300_27058665_Chip-Seq_ZR-75-30cells_Human1.15868530
106* GATA1_19941826_ChIP-Seq_K562_Human1.15848797
107EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.15516584
108TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.15488362
109GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.15191656
110IKZF1_21737484_ChIP-ChIP_HCT116_Human1.14887148
111SMC3_22415368_ChIP-Seq_MEFs_Mouse1.14489874
112WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14045343
113SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.13935613
114WDR5_24793694_ChIP-Seq_LNCAP_Human1.13406281
115SOX2_20726797_ChIP-Seq_SW620_Human1.12444107
116LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.12379946
117NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.11134972
118* MYC_18940864_ChIP-ChIP_HL60_Human1.10862952
119ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10644623
120SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.10589151
121* STAT1_17558387_ChIP-Seq_HELA_Human1.10014652
122SOX9_24532713_ChIP-Seq_HFSC_Mouse1.09783461
123SMAD4_21799915_ChIP-Seq_A2780_Human1.09536373
124UBF1/2_26484160_Chip-Seq_HMECs_Human1.08626387
125EWS_26573619_Chip-Seq_HEK293_Human1.08412939
126MTF2_20144788_ChIP-Seq_MESCs_Mouse1.07629775
127RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.05839894
128NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.05796593
129SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.05750454
130STAT6_21828071_ChIP-Seq_BEAS2B_Human1.05432356
131SA1_22415368_ChIP-Seq_MEFs_Mouse1.04774625
132ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.04646250
133MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.04512063
134FOXM1_26456572_ChIP-Seq_MCF-7_Human1.04421375
135TCF4_23295773_ChIP-Seq_U87_Human1.03929492
136* SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03194608
137P63_26484246_Chip-Seq_KERATINOCYTES_Human1.02774812
138* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02285150
139SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.01169914
140UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.00863013
141LXR_22292898_ChIP-Seq_THP-1_Human1.00741739
142MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.00664382
143* NFYA_21822215_ChIP-Seq_K562_Human0.98759132
144SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.98598631
145SPI1_23127762_ChIP-Seq_K562_Human0.98405409
146TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97320478
147AUTS2_25519132_ChIP-Seq_293T-REX_Human0.97266058
148* TBL1_22424771_ChIP-Seq_293T_Human0.96854673
149SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.96570640
150PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.94981778
151KLF4_18555785_ChIP-Seq_MESCs_Mouse0.94894636
152RNF2_18974828_ChIP-Seq_MESCs_Mouse0.94656720
153EZH2_18974828_ChIP-Seq_MESCs_Mouse0.94656720
154SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.93922996
155SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.93239449
156SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.92508720
157* GATA2_19941826_ChIP-Seq_K562_Human0.92341531
158GF1_26923725_Chip-Seq_HPCs_Mouse0.91466960
159STAT3_18555785_ChIP-Seq_MESCs_Mouse0.91428626
160FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.90519096
161SUZ12_27294783_Chip-Seq_NPCs_Mouse0.90238837
162TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.90206372
163GATA1_19941827_ChIP-Seq_MEL_Mouse0.90004577
164GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89842051
165* FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.88907624
166SALL4_18804426_ChIP-ChIP_XEN_Mouse0.88631571
167RAD21_21589869_ChIP-Seq_MESCs_Mouse0.87894189
168TP63_23658742_ChIP-Seq_EP156T_Human0.87441603
169GF1B_26923725_Chip-Seq_HPCs_Mouse0.87438462
170MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.87236352
171BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.86758583
172NFE2_27457419_Chip-Seq_LIVER_Mouse0.85732620
173NANOG_21062744_ChIP-ChIP_HESCs_Human0.84966579
174CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.83866901
175TCF4_18268006_ChIP-ChIP_LS174T_Human0.83811301
176NFIB_24661679_ChIP-Seq_LUNG_Mouse0.83604325
177KDM5A_27292631_Chip-Seq_BREAST_Human0.83394784
178* PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human0.83327086
179TAL1_26923725_Chip-Seq_HPCs_Mouse0.82824116
180TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.81660246
181* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.81478606
182* ETV1_20927104_ChIP-Seq_GIST48_Human0.81141096
183PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.80249598
184PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.80088756
185ESR1_20079471_ChIP-ChIP_T-47D_Human0.80082233
186* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77966209
187E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.77158983
188STAT3_18555785_Chip-Seq_ESCs_Mouse0.76403061
189EZH2_27294783_Chip-Seq_NPCs_Mouse0.76207694
190CTBP2_25329375_ChIP-Seq_LNCAP_Human0.75776504
191FOXH1_21741376_ChIP-Seq_EPCs_Human0.74407925
192OCT4_19829295_ChIP-Seq_ESCs_Human0.73634620
193DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.73515591
194CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.72884268
195FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.72171485
196* HNFA_21074721_ChIP-Seq_CACO-2_Human0.72068376
197EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.71049278

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.67666424
2MP0003646_muscle_fatigue4.70082979
3MP0003279_aneurysm4.21647611
4MP0005451_abnormal_body_composition4.19268459
5MP0002653_abnormal_ependyma_morphology3.85773513
6MP0003718_maternal_effect3.76989426
7MP0003705_abnormal_hypodermis_morpholog3.71807978
8MP0001958_emphysema3.67464589
9MP0004272_abnormal_basement_membrane3.48127573
10MP0008995_early_reproductive_senescence3.45415149
11MP0003566_abnormal_cell_adhesion3.37015066
12MP0002210_abnormal_sex_determination3.20171689
13MP0001929_abnormal_gametogenesis3.19346486
14MP0002102_abnormal_ear_morphology3.12029166
15MP0003950_abnormal_plasma_membrane3.10389245
16MP0010094_abnormal_chromosome_stability2.98728108
17MP0005464_abnormal_platelet_physiology2.89830341
18MP0006054_spinal_hemorrhage2.88720509
19MP0005257_abnormal_intraocular_pressure2.86474503
20MP0003123_paternal_imprinting2.86179157
21MP0000653_abnormal_sex_gland2.74356287
22MP0005503_abnormal_tendon_morphology2.73701498
23MP0003693_abnormal_embryo_hatching2.60332322
24MP0003787_abnormal_imprinting2.53736625
25MP0005275_abnormal_skin_tensile2.51778071
26MP0001145_abnormal_male_reproductive2.49525792
27MP0003111_abnormal_nucleus_morphology2.43526113
28MP0001542_abnormal_bone_strength2.36414047
29MP0003077_abnormal_cell_cycle2.34956062
30MP0008004_abnormal_stomach_pH2.31575458
31MP0005023_abnormal_wound_healing2.25715005
32MP0009384_cardiac_valve_regurgitation2.24012817
33MP0003091_abnormal_cell_migration2.22953437
34MP0003698_abnormal_male_reproductive2.15399997
35MP0004957_abnormal_blastocyst_morpholog2.09982470
36MP0008877_abnormal_DNA_methylation10.2457913
37MP0001119_abnormal_female_reproductive1.98167851
38MP0000343_altered_response_to1.97232731
39MP0003699_abnormal_female_reproductive1.96296195
40MP0003786_premature_aging1.96136593
41MP0009840_abnormal_foam_cell1.94884439
42MP0000767_abnormal_smooth_muscle1.93726732
43MP0010386_abnormal_urinary_bladder1.88109859
44MP0005058_abnormal_lysosome_morphology1.87654482
45MP0003121_genomic_imprinting1.81473955
46MP0002161_abnormal_fertility/fecundity1.80081235
47MP0005595_abnormal_vascular_smooth1.79819847
48MP0005408_hypopigmentation1.72322559
49MP0005395_other_phenotype1.69727046
50MP0008058_abnormal_DNA_repair1.68951258
51MP0002295_abnormal_pulmonary_circulatio1.65355445
52MP0001879_abnormal_lymphatic_vessel1.58830649
53MP0005508_abnormal_skeleton_morphology1.57062532
54MP0006292_abnormal_olfactory_placode1.56753269
55MP0008007_abnormal_cellular_replicative1.53714516
56MP0003300_gastrointestinal_ulcer1.51241974
57MP0001730_embryonic_growth_arrest1.48309052
58MP0001915_intracranial_hemorrhage1.44806985
59MP0003191_abnormal_cellular_cholesterol1.41664046
60MP0005164_abnormal_response_to1.37621071
61MP0002249_abnormal_larynx_morphology1.35915629
62MP0002998_abnormal_bone_remodeling1.33726585
63MP0005410_abnormal_fertilization1.32769570
64MP0000569_abnormal_digit_pigmentation1.32035905
65MP0005390_skeleton_phenotype1.31974764
66MP0001533_abnormal_skeleton_physiology1.31308877
67MP0002896_abnormal_bone_mineralization1.27944612
68MP0005623_abnormal_meninges_morphology1.27419543
69MP0000013_abnormal_adipose_tissue1.27352137
70MP0003448_altered_tumor_morphology1.25371115
71MP0001529_abnormal_vocalization1.25151125
72MP0009053_abnormal_anal_canal1.24268982
73MP0003828_pulmonary_edema1.23079075
74MP0008932_abnormal_embryonic_tissue1.18779284
75MP0002085_abnormal_embryonic_tissue1.16424908
76MP0000350_abnormal_cell_proliferation1.15873932
77MP0001243_abnormal_dermal_layer1.12736489
78MP0000534_abnormal_ureter_morphology1.12224807
79MP0004185_abnormal_adipocyte_glucose1.11266024
80MP0003937_abnormal_limbs/digits/tail_de1.10085892
81MP0002060_abnormal_skin_morphology1.09653086
82MP0001697_abnormal_embryo_size1.08260372
83MP0004883_abnormal_blood_vessel1.07723031
84MP0010030_abnormal_orbit_morphology1.06636788
85MP0003172_abnormal_lysosome_physiology1.06440614
86MP0009780_abnormal_chondrocyte_physiolo1.04846030
87MP0002254_reproductive_system_inflammat1.03910928
88MP0006082_CNS_inflammation1.03787088
89MP0004233_abnormal_muscle_weight1.02066743
90MP0000858_altered_metastatic_potential1.00636447
91MP0002084_abnormal_developmental_patter1.00035550
92MP0005165_increased_susceptibility_to0.97906313
93MP0005380_embryogenesis_phenotype0.97663348
94MP0001672_abnormal_embryogenesis/_devel0.97663348
95MP0010352_gastrointestinal_tract_polyps0.97515689
96MP0004084_abnormal_cardiac_muscle0.96642696
97MP0000249_abnormal_blood_vessel0.96500808
98MP0005310_abnormal_salivary_gland0.94816634
99MP0000579_abnormal_nail_morphology0.93935759
100MP0003795_abnormal_bone_structure0.93915705
101MP0009764_decreased_sensitivity_to0.93577711
102MP0003221_abnormal_cardiomyocyte_apopto0.93038289
103MP0003724_increased_susceptibility_to0.92162459
104MP0000230_abnormal_systemic_arterial0.91861507
105MP0001299_abnormal_eye_distance/0.91309967
106MP0010307_abnormal_tumor_latency0.89599497
107MP0008057_abnormal_DNA_replication0.87630131
108MP0004858_abnormal_nervous_system0.87417471
109MP0000604_amyloidosis0.87229629
110MP0004859_abnormal_synaptic_plasticity0.85127971
111MP0001545_abnormal_hematopoietic_system0.84386496
112MP0005397_hematopoietic_system_phenotyp0.84386496
113MP0002128_abnormal_blood_circulation0.84244492
114MP0002019_abnormal_tumor_incidence0.84063371
115MP0002877_abnormal_melanocyte_morpholog0.83080596
116MP0003436_decreased_susceptibility_to0.82879205
117MP0004134_abnormal_chest_morphology0.82724916
118MP0005197_abnormal_uvea_morphology0.81878165
119MP0000639_abnormal_adrenal_gland0.81654295
120MP0001849_ear_inflammation0.81225174
121MP0000462_abnormal_digestive_system0.81056201
122MP0003984_embryonic_growth_retardation0.80233031
123MP0002396_abnormal_hematopoietic_system0.79150866
124MP0004808_abnormal_hematopoietic_stem0.78975772
125MP0001614_abnormal_blood_vessel0.77337274
126MP0000163_abnormal_cartilage_morphology0.77174415
127MP0002113_abnormal_skeleton_development0.76446841
128MP0003303_peritoneal_inflammation0.75568576
129MP0000678_abnormal_parathyroid_gland0.73083192
130MP0008775_abnormal_heart_ventricle0.72383446
131MP0005646_abnormal_pituitary_gland0.72131051
132MP0002933_joint_inflammation0.72066348
133MP0003315_abnormal_perineum_morphology0.71714514
134MP0002332_abnormal_exercise_endurance0.71558230
135MP0002088_abnormal_embryonic_growth/wei0.69426587
136MP0004036_abnormal_muscle_relaxation0.68965291
137MP0002115_abnormal_skeleton_extremities0.68349317
138MP0003755_abnormal_palate_morphology0.67660006
139MP0002148_abnormal_hypersensitivity_rea0.67300012
140MP0000749_muscle_degeneration0.67232780
141MP0004510_myositis0.66145113
142MP0000465_gastrointestinal_hemorrhage0.65631413
143MP0005621_abnormal_cell_physiology0.64667639
144MP0005620_abnormal_muscle_contractility0.64610108
145MP0003329_amyloid_beta_deposits0.64429624
146MP0003861_abnormal_nervous_system0.64262506
147MP0002168_other_aberrant_phenotype0.64147578
148MP0005647_abnormal_sex_gland0.63260888
149MP0003075_altered_response_to0.63112258
150MP0004947_skin_inflammation0.63045579
151MP0002080_prenatal_lethality0.62380146
152MP0000733_abnormal_muscle_development0.61596485
153MP0010368_abnormal_lymphatic_system0.61444225
154MP0001348_abnormal_lacrimal_gland0.60835448
155MP0004264_abnormal_extraembryonic_tissu0.60589392
156MP0003632_abnormal_nervous_system0.59313830
157MP0002133_abnormal_respiratory_system0.58594815
158MP0005388_respiratory_system_phenotype0.58594815
159MP0005167_abnormal_blood-brain_barrier0.58498919
160MP0000751_myopathy0.58295027
161MP0001175_abnormal_lung_morphology0.58144148
162MP0003045_fibrosis0.57693741
163MP0003942_abnormal_urinary_system0.57025329
164MP0001756_abnormal_urination0.54690924
165MP0000427_abnormal_hair_cycle0.54314497
166MP0005193_abnormal_anterior_eye0.54114087
167MP0002086_abnormal_extraembryonic_tissu0.53233904
168MP0001905_abnormal_dopamine_level0.52575791
169MP0000750_abnormal_muscle_regeneration0.52275868
170MP0001663_abnormal_digestive_system0.51618937
171MP0004270_analgesia0.50923556
172MP0000613_abnormal_salivary_gland0.48884120
173MP0000490_abnormal_crypts_of0.48802711
174MP0005384_cellular_phenotype0.47264400
175MP0002116_abnormal_craniofacial_bone0.46526589
176MP0000432_abnormal_head_morphology0.46003171
177MP0006138_congestive_heart_failure0.45533707
178MP0001502_abnormal_circadian_rhythm0.43776177
179MP0000313_abnormal_cell_death0.42677715
180MP0003935_abnormal_craniofacial_develop0.42469751
181MP0005187_abnormal_penis_morphology0.39669478
182MP0001851_eye_inflammation0.39417216
183MP0009278_abnormal_bone_marrow0.39224626
184MP0009250_abnormal_appendicular_skeleto0.38254850
185MP0002127_abnormal_cardiovascular_syste0.37776775
186MP0003890_abnormal_embryonic-extraembry0.37161412
187MP0009672_abnormal_birth_weight0.36378278
188MP0005389_reproductive_system_phenotype0.35707409
189MP0002160_abnormal_reproductive_system0.34783769
190MP0002282_abnormal_trachea_morphology0.34472593
191MP0002114_abnormal_axial_skeleton0.32466777
192MP0002233_abnormal_nose_morphology0.32044114

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)7.68094859
2Male infertility (HP:0003251)6.74401581
3Protrusio acetabuli (HP:0003179)6.57133476
4Papillary thyroid carcinoma (HP:0002895)5.48637222
5Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.17894271
6Aortic dissection (HP:0002647)5.13512234
7Chromsome breakage (HP:0040012)4.95758062
8Azoospermia (HP:0000027)4.86465143
9Aortic aneurysm (HP:0004942)4.79954364
10Facial hemangioma (HP:0000329)4.64064319
11Abnormality of the fingertips (HP:0001211)4.56445682
12Abnormal spermatogenesis (HP:0008669)4.54037653
13Shawl scrotum (HP:0000049)4.44410299
14Vascular tortuosity (HP:0004948)4.34062732
15Increased mean platelet volume (HP:0011877)4.31263494
16Capillary hemangiomas (HP:0005306)4.27897577
17Arterial tortuosity (HP:0005116)4.08217546
18Abnormal platelet volume (HP:0011876)3.89610473
19Menorrhagia (HP:0000132)3.87298241
20Spinal rigidity (HP:0003306)3.83669296
21Soft skin (HP:0000977)3.83172895
22Follicular hyperkeratosis (HP:0007502)3.81040129
23Bladder diverticulum (HP:0000015)3.75921439
24Abnormality of the labia minora (HP:0012880)3.75498176
25Abnormality of dentin (HP:0010299)3.65027267
26Volvulus (HP:0002580)3.63035702
27Oligodactyly (hands) (HP:0001180)3.61918000
28Breast hypoplasia (HP:0003187)3.51893323
29Birth length less than 3rd percentile (HP:0003561)3.47176270
30Adrenal hypoplasia (HP:0000835)3.45949314
31Infertility (HP:0000789)3.44316364
32Petechiae (HP:0000967)3.41925873
33Cervical subluxation (HP:0003308)3.39170029
34Atrophic scars (HP:0001075)3.38048710
35Peritonitis (HP:0002586)3.28790794
36Abnormality of the phalanges of the hallux (HP:0010057)3.28336978
37Type 1 muscle fiber predominance (HP:0003803)3.27705755
38Chromosomal breakage induced by crosslinking agents (HP:0003221)3.26275425
39Slender build (HP:0001533)3.23319386
40Oligodactyly (HP:0012165)3.21650593
41Wormian bones (HP:0002645)3.11435998
42Prolonged bleeding time (HP:0003010)3.10367980
43Blue sclerae (HP:0000592)3.03158627
44Patellar aplasia (HP:0006443)3.01552892
45Abnormality of chromosome segregation (HP:0002916)3.00615747
46Genu recurvatum (HP:0002816)3.00194145
47Spontaneous abortion (HP:0005268)2.98563319
48Fragile skin (HP:0001030)2.97610825
49Purpura (HP:0000979)2.93468610
50Aortic regurgitation (HP:0001659)2.92106352
51Truncal obesity (HP:0001956)2.91654690
52Vertebral compression fractures (HP:0002953)2.90786821
53Impulsivity (HP:0100710)2.89588311
54Abnormality of chromosome stability (HP:0003220)2.88553794
55Chronic bronchitis (HP:0004469)2.86266620
56Dilatation of the ascending aorta (HP:0005111)2.86027739
57Thyroid carcinoma (HP:0002890)2.85430893
58Abnormality of glycolipid metabolism (HP:0010969)2.80032926
59Abnormality of liposaccharide metabolism (HP:0010968)2.80032926
60Abnormality of glycosphingolipid metabolism (HP:0004343)2.80032926
61Abnormal respiratory motile cilium physiology (HP:0012261)2.78619951
62Premature ovarian failure (HP:0008209)2.75745374
63Secondary amenorrhea (HP:0000869)2.74786067
64Broad metatarsal (HP:0001783)2.72863085
65Mitral stenosis (HP:0001718)2.72741862
66Aplasia/Hypoplasia of the patella (HP:0006498)2.72348508
67Neonatal short-limb short stature (HP:0008921)2.71942807
68Dysostosis multiplex (HP:0000943)2.63488573
69Bowel diverticulosis (HP:0005222)2.61953010
70Increased variability in muscle fiber diameter (HP:0003557)2.61546979
71Mitral regurgitation (HP:0001653)2.61250336
72Sandal gap (HP:0001852)2.58104061
73Long toe (HP:0010511)2.57370549
74Pulmonary fibrosis (HP:0002206)2.55028281
75Abnormality of the lower motor neuron (HP:0002366)2.53898168
76Mitral valve prolapse (HP:0001634)2.52086347
77Acute myeloid leukemia (HP:0004808)2.52056446
78Abnormality of the aortic arch (HP:0012303)2.52026029
79Primary amenorrhea (HP:0000786)2.51760906
80Myocardial infarction (HP:0001658)2.50870794
81Spondylolisthesis (HP:0003302)2.49377041
82Obstructive sleep apnea (HP:0002870)2.47009661
83Aplasia/Hypoplasia of the breasts (HP:0010311)2.43214233
84Epistaxis (HP:0000421)2.42718777
85Shallow orbits (HP:0000586)2.41545374
86Cystic hygroma (HP:0000476)2.39646036
87Hypoventilation (HP:0002791)2.39127723
88Breast aplasia (HP:0100783)2.38608231
89Aortic valve stenosis (HP:0001650)2.36060492
90Hypoplastic iliac wings (HP:0002866)2.34263678
91Type 2 muscle fiber atrophy (HP:0003554)2.33932338
92Wrist flexion contracture (HP:0001239)2.32174639
93Joint stiffness (HP:0001387)2.31379780
94Elbow flexion contracture (HP:0002987)2.30964073
95Ankle contracture (HP:0006466)2.30596020
96Joint laxity (HP:0001388)2.29393495
97Aplasia/Hypoplasia of the sternum (HP:0006714)2.28460992
98Abnormal platelet function (HP:0011869)2.28278596
99Impaired platelet aggregation (HP:0003540)2.28278596
100Rhinitis (HP:0012384)2.27722130
101Supernumerary spleens (HP:0009799)2.26419743
102Bruising susceptibility (HP:0000978)2.26314171
103Flat capital femoral epiphysis (HP:0003370)2.26263772
104Ectopic kidney (HP:0000086)2.25151036
105Cerebral aneurysm (HP:0004944)2.24023686
106Abnormality of skeletal muscle fiber size (HP:0012084)2.23866493
107Long eyelashes (HP:0000527)2.22769380
108Microglossia (HP:0000171)2.16775405
109Abnormality of the acetabulum (HP:0003170)2.15944208
110Midline defect of the nose (HP:0004122)2.14510997
111Renal duplication (HP:0000075)2.13104693
112Myelodysplasia (HP:0002863)2.12967599
113Overgrowth (HP:0001548)2.12522037
114Overlapping toe (HP:0001845)2.12133976
115Muscle fiber atrophy (HP:0100295)2.11699961
116Hyperextensible skin (HP:0000974)2.11599137
117Femoral bowing (HP:0002980)2.10794056
118Cardiovascular calcification (HP:0011915)2.09745385
119Distal upper limb amyotrophy (HP:0007149)2.08201566
120Upper limb amyotrophy (HP:0009129)2.08201566
121Aneurysm (HP:0002617)2.07806457
122Urinary glycosaminoglycan excretion (HP:0003541)2.07796422
123Mucopolysacchariduria (HP:0008155)2.07796422
124Abnormality of mucopolysaccharide metabolism (HP:0011020)2.07416070
125Abnormality of polysaccharide metabolism (HP:0011012)2.07416070
126Abnormality of glycosaminoglycan metabolism (HP:0004371)2.07416070
127Osteolytic defects of the hand bones (HP:0009699)2.07156274
128Osteolytic defects of the phalanges of the hand (HP:0009771)2.07156274
129Gonadotropin excess (HP:0000837)2.05629897
130Biconcave vertebral bodies (HP:0004586)2.05174983
131Ovoid vertebral bodies (HP:0003300)2.05174087
132Ulnar bowing (HP:0003031)2.05028618
133Aplasia/Hypoplasia of the uvula (HP:0010293)2.03496812
134Flat cornea (HP:0007720)2.03283804
135Tibial bowing (HP:0002982)2.03209867
136Thin bony cortex (HP:0002753)2.02935879
137Short nail (HP:0001799)2.01885377
138Carpal bone hypoplasia (HP:0001498)2.01851483
139Short thumb (HP:0009778)2.01485925
140Abnormal delivery (HP:0001787)2.01451545
141Mesomelia (HP:0003027)2.00921874
142Cafe-au-lait spot (HP:0000957)1.99505471
143Mildly elevated creatine phosphokinase (HP:0008180)1.99505396
144Absent frontal sinuses (HP:0002688)1.98684237
145Abnormality of the epiphysis of the femoral head (HP:0010574)1.96366021
146Urethral obstruction (HP:0000796)1.96024873
147Wide anterior fontanel (HP:0000260)1.94377005
148Increased density of long bones (HP:0006392)1.94180148
149Hyperlipoproteinemia (HP:0010980)1.93971903
150Poor coordination (HP:0002370)1.93693825
151Abnormality of the preputium (HP:0100587)1.93469721
152Conjunctival telangiectasia (HP:0000524)1.93376632
153Rib fusion (HP:0000902)1.92758326
154Abnormality of lateral ventricle (HP:0030047)1.91261876
155Radial bowing (HP:0002986)1.90940999
156Distal lower limb amyotrophy (HP:0008944)1.90918423
157Abnormality of the distal phalanx of the thumb (HP:0009617)1.90084150
158Gingival bleeding (HP:0000225)1.89586986
159Generalized amyotrophy (HP:0003700)1.89253161
160Increased nuchal translucency (HP:0010880)1.89109124
161Abnormality of the parietal bone (HP:0002696)1.87229694
162Abnormal hair whorl (HP:0010721)1.86355167
163Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.84787862
164Bowing of the arm (HP:0006488)1.83322646
165Bowed forearm bones (HP:0003956)1.83322646
166Ectopia lentis (HP:0001083)1.83296791
167Spontaneous hematomas (HP:0007420)1.82302710
168Upper limb muscle weakness (HP:0003484)1.81989042
169Disproportionate tall stature (HP:0001519)1.81942721
170Achilles tendon contracture (HP:0001771)1.81640894
171Neoplasm of the oral cavity (HP:0100649)1.81626122
172Infantile muscular hypotonia (HP:0008947)1.80833138
173Abnormality of the femoral head (HP:0003368)1.80263845
174Meckel diverticulum (HP:0002245)1.79645612
175Lip pit (HP:0100267)1.78587864
176Hypergonadotropic hypogonadism (HP:0000815)1.77902454
177Abnormality of male internal genitalia (HP:0000022)1.77545934
178Neoplasm of striated muscle (HP:0009728)1.76108908
179Abnormality involving the epiphyses of the lower limbs (HP:0006500)1.75629038
180Abnormality of femoral epiphyses (HP:0006499)1.75629038
181Rhabdomyosarcoma (HP:0002859)1.74676743
182Aplasia/Hypoplasia involving the musculature (HP:0001460)1.71158379
183Nephronophthisis (HP:0000090)1.70430318
184Fetal akinesia sequence (HP:0001989)1.70129628
185Nonprogressive disorder (HP:0003680)1.69401126
186Duodenal stenosis (HP:0100867)1.69312467
187Small intestinal stenosis (HP:0012848)1.69312467
188Astrocytoma (HP:0009592)1.64138529
189Abnormality of the astrocytes (HP:0100707)1.64138529
190Ependymoma (HP:0002888)1.61296066
191Nephroblastoma (Wilms tumor) (HP:0002667)1.60029798
192Abnormal ciliary motility (HP:0012262)1.59820348
193Sloping forehead (HP:0000340)1.58829506
194Abnormal lung lobation (HP:0002101)1.58523237
195Abnormality of the ileum (HP:0001549)1.58105130
196Aplastic anemia (HP:0001915)1.57516697
197Pendular nystagmus (HP:0012043)1.56878519

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MYLK5.26936504
2LATS23.66679288
3LATS13.64738516
4KSR23.63447666
5MAP3K63.58447923
6CDC73.33288183
7STK38L3.12530120
8PLK43.08701526
9DDR23.06496121
10EEF2K3.06324285
11LIMK13.04893147
12TTK2.72158636
13CDK122.71947679
14PRKD32.70631813
15IRAK32.62322771
16EPHB22.60693010
17PTK22.57457703
18TAOK32.53067778
19TTN2.50451326
20MAP3K92.45727805
21NEK92.45022175
22TGFBR22.43727934
23MUSK2.39586903
24ERBB42.26311654
25TAOK12.19440743
26TESK12.15853809
27NTRK12.14274329
28MOS2.10297385
29PAK22.06036029
30NEK22.03500545
31ACVR1B2.03040615
32RAF12.01440367
33PIK3CG1.99415454
34PIM21.92456405
35MAP3K131.83340461
36BRAF1.81567576
37FLT31.78924233
38KSR11.77268713
39PAK61.71605658
40MAP3K41.65972494
41STK31.65025955
42BMX1.62052033
43ZAP701.56193862
44MELK1.55141865
45CDK81.53788596
46ADRBK21.50144766
47BMPR21.49286231
48CDC42BPA1.48500975
49CDK91.47469631
50GRK71.42230722
51MAP3K31.37557106
52TIE11.34472475
53ILK1.32026798
54BUB11.32007159
55DYRK21.31766079
56PAK41.31728004
57PLK11.29376654
58TAOK21.28523404
59EPHB11.28076010
60MAPK131.26123388
61DAPK31.25741906
62TYRO31.25143665
63ERN11.25142800
64CHEK21.25128232
65MAPKAPK31.23919151
66MET1.21458108
67ROCK11.21027640
68ADRBK11.17708796
69PRKG21.13721527
70ARAF1.10399483
71TESK20.99967451
72ROCK20.97982634
73STK380.95840559
74TEC0.95453941
75PAK10.95162493
76GRK50.92961232
77MAP2K30.92847472
78AKT30.92600577
79MAPKAPK50.92485268
80ABL20.91895687
81LMTK20.91345903
82RPS6KA20.90511203
83TRPM70.84975299
84PKN20.84128980
85CHEK10.83718870
86PRKD20.82986280
87PLK20.78765325
88ATM0.78349163
89AURKB0.78088587
90BRD40.76976908
91ICK0.75361445
92KIT0.72755093
93CAMKK20.70258678
94MARK20.69597635
95CSNK1G20.67329166
96CAMK2G0.66539598
97RPS6KB20.66140749
98MAP3K80.64752701
99PAK30.63477367
100DMPK0.62875218
101PRKD10.62413749
102PRKAA10.62403907
103JAK10.62299524
104CSNK1G10.61558257
105SIK10.60577607
106JAK30.60394280
107STK110.59983233
108TRIB30.59764669
109GSK3A0.59665670
110MAP3K10.59644620
111MAP2K40.57835651
112PRKAA20.55870744
113GRK10.54751340
114RET0.54421916
115MAP2K10.53444531
116MAPK110.53064773
117BLK0.51861982
118CSF1R0.51514533
119STK240.51124045
120CDK70.50796976
121MAP2K70.50357866
122RIPK10.50095922
123MAPK70.49750834
124MAP3K110.49435700
125BRSK10.48814768
126PRKCE0.48486241
127CDK20.48088917
128DYRK30.47544987
129CSNK1A1L0.45199552
130TBK10.44439093
131NLK0.44405591
132CDK10.43599937
133CDK30.42203288
134SRC0.42170870
135ATR0.41614796
136PLK30.41235914
137CSNK1G30.41043847
138SGK20.39632336
139AURKA0.39322133
140MAP3K50.38837914
141CDK40.38450682
142CAMK2D0.38213097
143PKN10.38021096
144IKBKB0.37939329
145EPHA40.36861267
146INSR0.35877666
147TGFBR10.35201158
148PDPK10.34909005
149PDGFRA0.34057397
150BTK0.33472635
151MAPKAPK20.31876833
152CAMK1D0.31586510
153STK100.30683966
154FGR0.30145215
155CAMK2B0.29227316
156PRKCD0.29137663
157RPS6KL10.28923329
158RPS6KC10.28923329
159MTOR0.27944644
160CAMK2A0.27702580
161SRPK10.25608131
162PDGFRB0.25397879
163GSK3B0.24275126
164MKNK20.22780061
165PTK2B0.22566985
166SGK2230.22163775
167SGK4940.22163775
168ABL10.21581250
169NTRK20.21380773
170DYRK1A0.20335680
171CDK150.20179474
172MAP3K20.19381620
173PRKDC0.18934624
174MAP3K120.18184638
175MAPK100.18011890

Predicted pathways (KEGG)

RankGene SetZ-score
1Cell cycle_Homo sapiens_hsa041104.19162574
2Basal transcription factors_Homo sapiens_hsa030223.92996356
3ECM-receptor interaction_Homo sapiens_hsa045123.83406921
4RNA degradation_Homo sapiens_hsa030183.47092488
5Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.45742440
6Glycosaminoglycan degradation_Homo sapiens_hsa005313.02683854
7Dorso-ventral axis formation_Homo sapiens_hsa043202.96572240
8Ovarian steroidogenesis_Homo sapiens_hsa049132.80767326
9Oocyte meiosis_Homo sapiens_hsa041142.66641750
10Focal adhesion_Homo sapiens_hsa045102.60167678
11Circadian rhythm_Homo sapiens_hsa047102.50245397
12Homologous recombination_Homo sapiens_hsa034402.48680590
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.46777450
14alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.27062744
15RNA transport_Homo sapiens_hsa030132.23664873
16Vitamin B6 metabolism_Homo sapiens_hsa007502.21822447
17Non-homologous end-joining_Homo sapiens_hsa034502.19164647
18Linoleic acid metabolism_Homo sapiens_hsa005912.18577506
19Platelet activation_Homo sapiens_hsa046112.16588796
20Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.14190266
21Progesterone-mediated oocyte maturation_Homo sapiens_hsa049142.12287896
22RNA polymerase_Homo sapiens_hsa030202.10609339
23Lysosome_Homo sapiens_hsa041422.06963502
24Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.98452471
25mRNA surveillance pathway_Homo sapiens_hsa030151.94329906
26Fanconi anemia pathway_Homo sapiens_hsa034601.89892152
27Malaria_Homo sapiens_hsa051441.83654908
28Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.82172035
29Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.75558477
30Amoebiasis_Homo sapiens_hsa051461.74683155
31Pancreatic cancer_Homo sapiens_hsa052121.73747151
32Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.71737055
33Dilated cardiomyopathy_Homo sapiens_hsa054141.70528628
34Other glycan degradation_Homo sapiens_hsa005111.68752087
35TGF-beta signaling pathway_Homo sapiens_hsa043501.67830769
36Ether lipid metabolism_Homo sapiens_hsa005651.60615073
37Proteoglycans in cancer_Homo sapiens_hsa052051.57781233
38AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.55289741
39Shigellosis_Homo sapiens_hsa051311.54515330
40Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.51110602
41GnRH signaling pathway_Homo sapiens_hsa049121.51088439
42Phagosome_Homo sapiens_hsa041451.49231080
43p53 signaling pathway_Homo sapiens_hsa041151.47703838
44Choline metabolism in cancer_Homo sapiens_hsa052311.45144889
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.43040802
46DNA replication_Homo sapiens_hsa030301.36362303
47Nucleotide excision repair_Homo sapiens_hsa034201.32550021
48Base excision repair_Homo sapiens_hsa034101.31563320
49SNARE interactions in vesicular transport_Homo sapiens_hsa041301.31193893
50Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.28153884
51Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.26395032
52Vibrio cholerae infection_Homo sapiens_hsa051101.23408430
53Prolactin signaling pathway_Homo sapiens_hsa049171.19801853
54MicroRNAs in cancer_Homo sapiens_hsa052061.19065174
55Mismatch repair_Homo sapiens_hsa034301.18743702
56Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.16104246
57Leukocyte transendothelial migration_Homo sapiens_hsa046701.15559937
58Sulfur metabolism_Homo sapiens_hsa009201.13168441
59Endocytosis_Homo sapiens_hsa041441.13084554
60Renal cell carcinoma_Homo sapiens_hsa052111.12969562
61Thyroid cancer_Homo sapiens_hsa052161.12439464
62Rheumatoid arthritis_Homo sapiens_hsa053231.10721006
63PI3K-Akt signaling pathway_Homo sapiens_hsa041511.08709960
64Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.07707088
65Melanoma_Homo sapiens_hsa052181.06914496
66TNF signaling pathway_Homo sapiens_hsa046681.06796118
67Salmonella infection_Homo sapiens_hsa051321.05729819
68Gap junction_Homo sapiens_hsa045401.03946652
69Hematopoietic cell lineage_Homo sapiens_hsa046401.02627212
70Adherens junction_Homo sapiens_hsa045201.01488276
71Pertussis_Homo sapiens_hsa051331.01362549
72Protein digestion and absorption_Homo sapiens_hsa049741.00476826
73mTOR signaling pathway_Homo sapiens_hsa041501.00301265
74Colorectal cancer_Homo sapiens_hsa052100.98929831
75Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.98157454
76VEGF signaling pathway_Homo sapiens_hsa043700.97990102
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.96427421
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.96275130
79Rap1 signaling pathway_Homo sapiens_hsa040150.95125940
80Osteoclast differentiation_Homo sapiens_hsa043800.90338282
81Long-term depression_Homo sapiens_hsa047300.88800349
82Cysteine and methionine metabolism_Homo sapiens_hsa002700.86991084
83Non-small cell lung cancer_Homo sapiens_hsa052230.83672278
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.83016894
85Sphingolipid metabolism_Homo sapiens_hsa006000.82233286
86Glioma_Homo sapiens_hsa052140.81834134
87Herpes simplex infection_Homo sapiens_hsa051680.81439406
88ErbB signaling pathway_Homo sapiens_hsa040120.80971509
89Long-term potentiation_Homo sapiens_hsa047200.80888904
90Phospholipase D signaling pathway_Homo sapiens_hsa040720.79341178
91Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.78276176
92Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.76095654
93Longevity regulating pathway - mammal_Homo sapiens_hsa042110.75949536
94FoxO signaling pathway_Homo sapiens_hsa040680.74564639
95Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.74217894
96Complement and coagulation cascades_Homo sapiens_hsa046100.74082176
97Notch signaling pathway_Homo sapiens_hsa043300.73516207
98Toll-like receptor signaling pathway_Homo sapiens_hsa046200.73109224
99Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.72438514
100Lysine degradation_Homo sapiens_hsa003100.72430016
101Collecting duct acid secretion_Homo sapiens_hsa049660.72121479
102Endometrial cancer_Homo sapiens_hsa052130.71808709
103Chemokine signaling pathway_Homo sapiens_hsa040620.71787534
104Prostate cancer_Homo sapiens_hsa052150.71330549
105Prion diseases_Homo sapiens_hsa050200.71263409
106Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.69425212
107Hippo signaling pathway_Homo sapiens_hsa043900.68390820
108Estrogen signaling pathway_Homo sapiens_hsa049150.67693010
109Toxoplasmosis_Homo sapiens_hsa051450.67428392
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.67259865
111Ras signaling pathway_Homo sapiens_hsa040140.65786809
112Galactose metabolism_Homo sapiens_hsa000520.64044064
113Pentose phosphate pathway_Homo sapiens_hsa000300.63900886
114Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.63728367
115Inositol phosphate metabolism_Homo sapiens_hsa005620.62669776
116Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.61858817
117Purine metabolism_Homo sapiens_hsa002300.61600020
118Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.60911576
119cAMP signaling pathway_Homo sapiens_hsa040240.59994291
120Glucagon signaling pathway_Homo sapiens_hsa049220.58532059
121Chronic myeloid leukemia_Homo sapiens_hsa052200.58234865
122HTLV-I infection_Homo sapiens_hsa051660.57224463
123Phosphatidylinositol signaling system_Homo sapiens_hsa040700.57147739
124Pyrimidine metabolism_Homo sapiens_hsa002400.57106742
125Hepatitis B_Homo sapiens_hsa051610.56550317
126Neurotrophin signaling pathway_Homo sapiens_hsa047220.54352748
127Glutamatergic synapse_Homo sapiens_hsa047240.53858241
128Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.53820804
129Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.52286054
130Hedgehog signaling pathway_Homo sapiens_hsa043400.52164007
131Arachidonic acid metabolism_Homo sapiens_hsa005900.51687510
132Bladder cancer_Homo sapiens_hsa052190.51357959
133Axon guidance_Homo sapiens_hsa043600.51221192
134Apoptosis_Homo sapiens_hsa042100.50613744
135Tuberculosis_Homo sapiens_hsa051520.50205367
136Vascular smooth muscle contraction_Homo sapiens_hsa042700.49010076
137Glutathione metabolism_Homo sapiens_hsa004800.48650366
138MAPK signaling pathway_Homo sapiens_hsa040100.48347360
139Wnt signaling pathway_Homo sapiens_hsa043100.47952943
140Small cell lung cancer_Homo sapiens_hsa052220.46633744
141Sphingolipid signaling pathway_Homo sapiens_hsa040710.46247861
142Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.44686062
143Epstein-Barr virus infection_Homo sapiens_hsa051690.43903442
144AMPK signaling pathway_Homo sapiens_hsa041520.43505271
145Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43353079
146Serotonergic synapse_Homo sapiens_hsa047260.39621827
147NF-kappa B signaling pathway_Homo sapiens_hsa040640.39598982
148Spliceosome_Homo sapiens_hsa030400.38190700
149Influenza A_Homo sapiens_hsa051640.37665853
150Melanogenesis_Homo sapiens_hsa049160.37480408
151Tight junction_Homo sapiens_hsa045300.37340212
152PPAR signaling pathway_Homo sapiens_hsa033200.35902537
153Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35701009
154Amphetamine addiction_Homo sapiens_hsa050310.35425256
155Aldosterone synthesis and secretion_Homo sapiens_hsa049250.33036778
156Nicotine addiction_Homo sapiens_hsa050330.31991106
157Oxytocin signaling pathway_Homo sapiens_hsa049210.31442476
158N-Glycan biosynthesis_Homo sapiens_hsa005100.31390492
159Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29934985
160Jak-STAT signaling pathway_Homo sapiens_hsa046300.29457412
161Viral carcinogenesis_Homo sapiens_hsa052030.29358810
162Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29263425
163Biosynthesis of amino acids_Homo sapiens_hsa012300.29137799
164NOD-like receptor signaling pathway_Homo sapiens_hsa046210.28745185
165Pathways in cancer_Homo sapiens_hsa052000.27155675
166cGMP-PKG signaling pathway_Homo sapiens_hsa040220.25449976
167Cocaine addiction_Homo sapiens_hsa050300.25408423
168Glycerolipid metabolism_Homo sapiens_hsa005610.23356776
169Dopaminergic synapse_Homo sapiens_hsa047280.23019237
170Cholinergic synapse_Homo sapiens_hsa047250.21840410

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