ZPR1

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 is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1phospholipid efflux (GO:0033700)6.36230887
2membrane repolarization during cardiac muscle cell action potential (GO:0086013)6.27801275
3oligosaccharide catabolic process (GO:0009313)6.23379464
4negative regulation of cholesterol transport (GO:0032375)6.16217062
5negative regulation of sterol transport (GO:0032372)6.16217062
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.66234527
7low-density lipoprotein particle remodeling (GO:0034374)5.65057110
8membrane repolarization during action potential (GO:0086011)5.59125079
9regulation of cholesterol esterification (GO:0010872)5.52551667
10plasma lipoprotein particle assembly (GO:0034377)5.33362719
11vitamin A metabolic process (GO:0006776)5.21077538
12reverse cholesterol transport (GO:0043691)5.17645649
13high-density lipoprotein particle remodeling (GO:0034375)4.94773626
14plasma lipoprotein particle remodeling (GO:0034369)4.92887683
15protein-lipid complex remodeling (GO:0034368)4.92887683
16macromolecular complex remodeling (GO:0034367)4.92887683
17DNA deamination (GO:0045006)4.85226388
18purine nucleobase biosynthetic process (GO:0009113)4.77340308
19maturation of SSU-rRNA (GO:0030490)4.67662313
20membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.67311733
21nucleobase biosynthetic process (GO:0046112)4.64463182
22protein-lipid complex assembly (GO:0065005)4.59986943
23cholesterol efflux (GO:0033344)4.56151974
24plasma lipoprotein particle organization (GO:0071827)4.51910712
25folic acid metabolic process (GO:0046655)4.46137503
26ribosome assembly (GO:0042255)4.45256328
27positive regulation of fatty acid beta-oxidation (GO:0032000)4.43266199
28positive regulation of fatty acid oxidation (GO:0046321)4.36864359
29ribosomal small subunit assembly (GO:0000028)4.35369103
30formation of translation preinitiation complex (GO:0001731)4.28927535
31ribosome biogenesis (GO:0042254)4.25615789
32plasma lipoprotein particle clearance (GO:0034381)4.22703650
33regulation of skeletal muscle contraction (GO:0014819)4.18742137
34folic acid-containing compound biosynthetic process (GO:0009396)4.17133622
35protein-lipid complex subunit organization (GO:0071825)4.16824047
36glycine metabolic process (GO:0006544)4.13607601
37hydrogen peroxide biosynthetic process (GO:0050665)4.10234238
38viral transcription (GO:0019083)4.04381538
39interkinetic nuclear migration (GO:0022027)4.03071341
40translational termination (GO:0006415)4.01481745
41ribosomal large subunit biogenesis (GO:0042273)4.00390341
42ribonucleoprotein complex biogenesis (GO:0022613)3.99133185
43DNA replication initiation (GO:0006270)3.96299632
44regulation of somitogenesis (GO:0014807)3.96272201
45cellular response to electrical stimulus (GO:0071257)3.94173031
46cardiovascular system development (GO:0072358)3.89588500
47cGMP-mediated signaling (GO:0019934)3.85435727
48DNA strand elongation involved in DNA replication (GO:0006271)3.74597093
49translational initiation (GO:0006413)3.73556569
50translational elongation (GO:0006414)3.71279655
51glycosphingolipid catabolic process (GO:0046479)3.64059116
52ribosomal small subunit biogenesis (GO:0042274)3.60725764
53DNA replication checkpoint (GO:0000076)3.59914347
54reactive oxygen species biosynthetic process (GO:1903409)3.55574180
55DNA strand elongation (GO:0022616)3.55065556
56rRNA processing (GO:0006364)3.51847150
573-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.49712679
58purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.49712679
59neuronal stem cell maintenance (GO:0097150)3.49380704
60membrane repolarization (GO:0086009)3.45990369
61mitotic metaphase plate congression (GO:0007080)3.40922928
62rRNA metabolic process (GO:0016072)3.40245135
63trivalent inorganic anion homeostasis (GO:0072506)3.39372782
64phosphate ion homeostasis (GO:0055062)3.39372782
65lung epithelium development (GO:0060428)3.39185039
66DNA unwinding involved in DNA replication (GO:0006268)3.38090343
67proteasome assembly (GO:0043248)3.36966389
68telomere maintenance via semi-conservative replication (GO:0032201)3.36399317
69glycolipid catabolic process (GO:0019377)3.33722999
70nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.32512731
71fat-soluble vitamin biosynthetic process (GO:0042362)3.31588814
72SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.31333910
73lipoprotein metabolic process (GO:0042157)3.30681283
74spliceosomal snRNP assembly (GO:0000387)3.29729147
75pteridine-containing compound biosynthetic process (GO:0042559)3.28718644
76behavioral response to nicotine (GO:0035095)3.26616266
77positive regulation of fatty acid metabolic process (GO:0045923)3.25843784
78pseudouridine synthesis (GO:0001522)3.23508542
79cellular response to cholesterol (GO:0071397)3.23428476
80somite development (GO:0061053)3.21663750
81serine family amino acid biosynthetic process (GO:0009070)3.21651148
82protein targeting to ER (GO:0045047)3.20683502
83cotranslational protein targeting to membrane (GO:0006613)3.20133691
84mitotic nuclear envelope disassembly (GO:0007077)3.18839599
85rRNA modification (GO:0000154)3.18447028
86intestinal epithelial cell development (GO:0060576)3.17212541
87sulfate transmembrane transport (GO:1902358)3.16391015
88regulation of membrane repolarization (GO:0060306)3.16020138
89mesenchymal cell proliferation (GO:0010463)3.14772194
90superoxide anion generation (GO:0042554)3.14561282
91very-low-density lipoprotein particle assembly (GO:0034379)3.13702976
92regulation of DNA endoreduplication (GO:0032875)3.11787971
93serine family amino acid metabolic process (GO:0009069)3.11769052
94IMP biosynthetic process (GO:0006188)3.11140598
95cellular protein complex disassembly (GO:0043624)3.11078982
96transcription elongation from RNA polymerase III promoter (GO:0006385)3.09641541
97termination of RNA polymerase III transcription (GO:0006386)3.09641541
98protein localization to endoplasmic reticulum (GO:0070972)3.08700575
99serine family amino acid catabolic process (GO:0009071)3.07941144
100positive regulation of cellular amide metabolic process (GO:0034250)3.07796437
101viral life cycle (GO:0019058)3.07662309
102folic acid-containing compound metabolic process (GO:0006760)3.07066749
103regulation of mesoderm development (GO:2000380)3.06990080
104intestinal cholesterol absorption (GO:0030299)3.06961135
105L-serine metabolic process (GO:0006563)3.06348113
106regulation of lipoprotein particle clearance (GO:0010984)3.05535580
107positive regulation of cholesterol efflux (GO:0010875)3.05354317
108DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.04714431
109regulation of triglyceride catabolic process (GO:0010896)3.04328875
110establishment of protein localization to endoplasmic reticulum (GO:0072599)3.02937863
111negative regulation of smooth muscle cell differentiation (GO:0051151)3.02755211
112flavonoid metabolic process (GO:0009812)3.02175569
113DNA replication-dependent nucleosome organization (GO:0034723)3.02018832
114DNA replication-dependent nucleosome assembly (GO:0006335)3.02018832
115regulation of fatty acid oxidation (GO:0046320)3.01909449
116epithelial cell differentiation involved in prostate gland development (GO:0060742)3.01899190
117* regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.00386670
118dorsal/ventral neural tube patterning (GO:0021904)2.99269569
119cellular component biogenesis (GO:0044085)2.97734970
120positive regulation of lipid catabolic process (GO:0050996)2.96615403
121amino acid salvage (GO:0043102)2.96205864
122L-methionine salvage (GO:0071267)2.96205864
123L-methionine biosynthetic process (GO:0071265)2.96205864
124translation (GO:0006412)2.93541320
125membrane disassembly (GO:0030397)2.93437193
126nuclear envelope disassembly (GO:0051081)2.93437193
127lateral sprouting from an epithelium (GO:0060601)2.91920922
128neurotransmitter-gated ion channel clustering (GO:0072578)2.91305973
129magnesium ion transport (GO:0015693)2.90789505
130regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)2.90731471
131alanine transport (GO:0032328)2.90436260
132negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.90190281
133tetrahydrofolate metabolic process (GO:0046653)2.88947346
134anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.88565327
135telomere maintenance via recombination (GO:0000722)2.88289032
136regulation of cholesterol homeostasis (GO:2000188)2.87319830
137regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.87169084
138regulation of cholesterol storage (GO:0010885)2.86995274
139midbrain development (GO:0030901)2.85774601
140positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.85561276
141ceramide catabolic process (GO:0046514)2.85424635
142nucleus localization (GO:0051647)2.85051648
143metaphase plate congression (GO:0051310)2.84675891
144protein localization to kinetochore (GO:0034501)2.84602900
145central nervous system myelination (GO:0022010)2.84401868
146axon ensheathment in central nervous system (GO:0032291)2.84401868
147nucleoside salvage (GO:0043174)2.84161110
148L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.82178215
149lung lobe morphogenesis (GO:0060463)2.82006199
150negative regulation of lipid transport (GO:0032369)2.81277985
151pteridine-containing compound metabolic process (GO:0042558)2.80971616
152regulation of translational termination (GO:0006449)2.80971378
153protein complex disassembly (GO:0043241)2.79367867
154positive regulation of gastrulation (GO:2000543)2.79354624
155regulation of bile acid biosynthetic process (GO:0070857)2.77637009
156regulation of spindle organization (GO:0090224)2.77102271
157positive regulation of fatty acid biosynthetic process (GO:0045723)2.76612761
158vitamin D metabolic process (GO:0042359)2.74726602
159methionine metabolic process (GO:0006555)2.74491431
160response to electrical stimulus (GO:0051602)2.74228489
161sulfur amino acid biosynthetic process (GO:0000097)2.73421656
162regulation of cholesterol biosynthetic process (GO:0045540)2.73149497
163one-carbon metabolic process (GO:0006730)2.72872754
164positive regulation of cholesterol transport (GO:0032376)2.72737128
165positive regulation of sterol transport (GO:0032373)2.72737128
166IMP metabolic process (GO:0046040)2.72418454
167diacylglycerol metabolic process (GO:0046339)2.72386952
168regulation of mesenchymal cell apoptotic process (GO:2001053)2.72100170
169positive regulation of synapse maturation (GO:0090129)2.71643461
170intestinal absorption (GO:0050892)2.70987493
171negative regulation of leukocyte chemotaxis (GO:0002689)2.69673076
172telomere maintenance via telomere lengthening (GO:0010833)2.68969676
173epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.68173732
174macromolecular complex disassembly (GO:0032984)2.67145778
175pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.67100623
176methionine biosynthetic process (GO:0009086)2.67022557
177cellular response to sterol (GO:0036315)2.66737826
178nuclear-transcribed mRNA catabolic process (GO:0000956)2.66404770
179negative regulation of ligase activity (GO:0051352)2.66288034
180negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.66288034
181folic acid transport (GO:0015884)2.65343306
182sulfate transport (GO:0008272)2.64681374
183cellular anion homeostasis (GO:0030002)2.64589737
184protein localization to chromosome, centromeric region (GO:0071459)2.64310537
185sulfation (GO:0051923)2.63791468
186ncRNA processing (GO:0034470)2.63277561
187nuclear pore organization (GO:0006999)2.63114373
188regulation of translation in response to stress (GO:0043555)2.62882211
189cell proliferation involved in metanephros development (GO:0072203)2.62716467
190maturation of 5.8S rRNA (GO:0000460)2.62293955
191mitochondrial RNA metabolic process (GO:0000959)2.62208525
192tRNA methylation (GO:0030488)2.62082034
193mitotic recombination (GO:0006312)2.59820843
194regulation of cellular amino acid metabolic process (GO:0006521)2.59599826
195ncRNA metabolic process (GO:0034660)2.58910523
196positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.58012710
197cell cycle G1/S phase transition (GO:0044843)2.56703727
198G1/S transition of mitotic cell cycle (GO:0000082)2.56703727
199L-phenylalanine metabolic process (GO:0006558)2.55806639
200erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.55806639

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.61578173
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.38019164
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.19762836
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.91235723
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.89544330
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.23344009
7CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.07669328
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.93599279
9MYC_18358816_ChIP-ChIP_MESCs_Mouse2.87199520
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.85590348
11MYC_19079543_ChIP-ChIP_MESCs_Mouse2.84833250
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.79169657
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.73951086
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.66361163
15EST1_17652178_ChIP-ChIP_JURKAT_Human2.64846784
16CREB1_15753290_ChIP-ChIP_HEK293T_Human2.55476188
17CBX2_27304074_Chip-Seq_ESCs_Mouse2.47371707
18FOXM1_23109430_ChIP-Seq_U2OS_Human2.45028391
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.43291931
20JARID2_20075857_ChIP-Seq_MESCs_Mouse2.37996646
21E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.36728851
22ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.29982552
23XRN2_22483619_ChIP-Seq_HELA_Human2.28703862
24JARID2_20064375_ChIP-Seq_MESCs_Mouse2.24524346
25EZH2_27304074_Chip-Seq_ESCs_Mouse2.22982636
26FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.18491414
27STAT6_21828071_ChIP-Seq_BEAS2B_Human2.15595115
28VDR_23849224_ChIP-Seq_CD4+_Human2.14799529
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.11512402
30TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08565196
31MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.08276538
32EED_16625203_ChIP-ChIP_MESCs_Mouse2.06712020
33HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.04059421
34EZH2_22144423_ChIP-Seq_EOC_Human2.02390107
35NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.01461797
36ERG_21242973_ChIP-ChIP_JURKAT_Human2.01252133
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.95125072
38DCP1A_22483619_ChIP-Seq_HELA_Human1.95117242
39EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.94645819
40VDR_22108803_ChIP-Seq_LS180_Human1.94542214
41GABP_19822575_ChIP-Seq_HepG2_Human1.94027887
42E2F1_18555785_ChIP-Seq_MESCs_Mouse1.93865523
43FOXP3_21729870_ChIP-Seq_TREG_Human1.90547492
44GATA1_22025678_ChIP-Seq_K562_Human1.88494047
45SUZ12_27294783_Chip-Seq_ESCs_Mouse1.88151724
46SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.87855455
47RNF2_27304074_Chip-Seq_ESCs_Mouse1.86550912
48EZH2_27294783_Chip-Seq_ESCs_Mouse1.86000331
49CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.83414325
50MYC_22102868_ChIP-Seq_BL_Human1.83106558
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.81607859
52TP53_20018659_ChIP-ChIP_R1E_Mouse1.80927590
53MYCN_18555785_ChIP-Seq_MESCs_Mouse1.74963494
54ELF1_17652178_ChIP-ChIP_JURKAT_Human1.74138457
55PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.71202407
56CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.68685667
57TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.68458669
58BMI1_23680149_ChIP-Seq_NPCS_Mouse1.68269043
59POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.68032510
60AR_21909140_ChIP-Seq_LNCAP_Human1.64307253
61ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.63469389
62STAT3_1855785_ChIP-Seq_MESCs_Mouse1.62311586
63CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.62297490
64RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.61627982
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.60857723
66TTF2_22483619_ChIP-Seq_HELA_Human1.59765304
67ZFX_18555785_ChIP-Seq_MESCs_Mouse1.58925227
68NOTCH1_21737748_ChIP-Seq_TLL_Human1.57604062
69HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.56614143
70PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56259230
71NANOG_18555785_ChIP-Seq_MESCs_Mouse1.55040561
72THAP11_20581084_ChIP-Seq_MESCs_Mouse1.54291923
73CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.53878982
74RING1B_27294783_Chip-Seq_NPCs_Mouse1.52620978
75HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.49822164
76KDM5A_27292631_Chip-Seq_BREAST_Human1.49631550
77EZH2_18974828_ChIP-Seq_MESCs_Mouse1.49168295
78RNF2_18974828_ChIP-Seq_MESCs_Mouse1.49168295
79SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.46964046
80YY1_21170310_ChIP-Seq_MESCs_Mouse1.46662134
81RXR_22108803_ChIP-Seq_LS180_Human1.46430941
82CDX2_20551321_ChIP-Seq_CACO-2_Human1.46329650
83CIITA_25753668_ChIP-Seq_RAJI_Human1.45874059
84RING1B_27294783_Chip-Seq_ESCs_Mouse1.45016541
85PPARA_22158963_ChIP-Seq_LIVER_Mouse1.44666968
86SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.44363228
87E2F1_21310950_ChIP-Seq_MCF-7_Human1.44032356
88TP63_19390658_ChIP-ChIP_HaCaT_Human1.43711021
89MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.42791247
90FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.41742721
91FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.41350957
92EGR1_19374776_ChIP-ChIP_THP-1_Human1.40664127
93SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.39014659
94RXR_22158963_ChIP-Seq_LIVER_Mouse1.38937550
95CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38824661
96RNF2_27304074_Chip-Seq_NSC_Mouse1.37050763
97SCL_19346495_ChIP-Seq_HPC-7_Human1.36016016
98KLF4_18555785_ChIP-Seq_MESCs_Mouse1.35567735
99SRF_21415370_ChIP-Seq_HL-1_Mouse1.32839556
100ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.32687845
101LXR_22158963_ChIP-Seq_LIVER_Mouse1.31122886
102IRF8_21731497_ChIP-ChIP_J774_Mouse1.30711839
103SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.29638538
104ERG_20887958_ChIP-Seq_HPC-7_Mouse1.29282673
105POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.27558327
106BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.25304729
107HOXB4_20404135_ChIP-ChIP_EML_Mouse1.23781863
108DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.22474342
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21734244
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.21734244
111TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.21364000
112ZNF263_19887448_ChIP-Seq_K562_Human1.21329101
113CDX2_19796622_ChIP-Seq_MESCs_Mouse1.19954266
114ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.19518096
115EGR1_23403033_ChIP-Seq_LIVER_Mouse1.18554964
116SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.16801156
117KDM2B_26808549_Chip-Seq_K562_Human1.16576856
118KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16267450
119PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.16120244
120ELK1_19687146_ChIP-ChIP_HELA_Human1.15577906
121MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.14540538
122AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.13999012
123VDR_21846776_ChIP-Seq_THP-1_Human1.13703448
124SOX9_24532713_ChIP-Seq_HFSC_Mouse1.13263425
125YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11426416
126SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.11279102
127SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.10885627
128TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10188988
129CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.09537615
130SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.09125367
131ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08306766
132TFEB_21752829_ChIP-Seq_HELA_Human1.08236696
133SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.08136574
134MTF2_20144788_ChIP-Seq_MESCs_Mouse1.07617607
135BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.06010249
136SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.05060351
137RUNX_20019798_ChIP-Seq_JUKART_Human1.03731712
138CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.03615798
139KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.02577909
140E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.02444102
141CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.02437032
142ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.01211679
143HNF4A_19822575_ChIP-Seq_HepG2_Human1.00566447
144PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.99549516
145IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.99542491
146KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.99211210
147CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.99056894
148TDRD3_21172665_ChIP-Seq_MCF-7_Human0.98887066
149CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.98180380
150WT1_25993318_ChIP-Seq_PODOCYTE_Human0.97309710
151AR_21572438_ChIP-Seq_LNCaP_Human0.97045011
152CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.96624950
153SPI1_23547873_ChIP-Seq_NB4_Human0.94400580
154POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.94194580
155VDR_24787735_ChIP-Seq_THP-1_Human0.93820088
156EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.93791858
157CTCF_27219007_Chip-Seq_Bcells_Human0.93779567
158HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.93438859
159FOXA2_19822575_ChIP-Seq_HepG2_Human0.93405258
160VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93173615
161NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91882954
162VDR_24763502_ChIP-Seq_THP-1_Human0.90147247
163GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.89797373
164TP53_22127205_ChIP-Seq_IMR90_Human0.89748165
165SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89624732
166FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.88982794
167RUNX1_26923725_Chip-Seq_HPCs_Mouse0.88919162
168KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.88497421
169CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.88200840
170HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.86917168
171RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.86859474
172ELK1_22589737_ChIP-Seq_MCF10A_Human0.86508755
173KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.86391454
174MYC_27129775_Chip-Seq_CORNEA_Mouse0.85460168
175FOXO3_23340844_ChIP-Seq_DLD1_Human0.84964065
176MYC_18940864_ChIP-ChIP_HL60_Human0.84728597
177MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.84493436
178BCOR_27268052_Chip-Seq_Bcells_Human0.83584666
179OCT4_18692474_ChIP-Seq_MEFs_Mouse0.83544054
180KDM2B_26808549_Chip-Seq_DND41_Human0.83475133
181CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.82744905
182TAF2_19829295_ChIP-Seq_ESCs_Human0.81984327
183TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.81859055
184NFIB_24661679_ChIP-Seq_LUNG_Mouse0.79962767
185IRF1_19129219_ChIP-ChIP_H3396_Human0.79956640
186RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.78438908
187GF1_26923725_Chip-Seq_HPCs_Mouse0.77122129
188OCT4_19829295_ChIP-Seq_ESCs_Human0.76954158
189KLF4_19829295_ChIP-Seq_ESCs_Human0.76748097
190REST_21632747_ChIP-Seq_MESCs_Mouse0.76304364
191GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.75049261
192NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.75044734
193NRF2_20460467_ChIP-Seq_MEFs_Mouse0.75044734

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003283_abnormal_digestive_organ5.10041338
2MP0003693_abnormal_embryo_hatching4.92898032
3MP0000569_abnormal_digit_pigmentation4.04845930
4MP0003806_abnormal_nucleotide_metabolis3.81996141
5MP0003646_muscle_fatigue3.79795114
6MP0004957_abnormal_blastocyst_morpholog3.61086958
7MP0003111_abnormal_nucleus_morphology3.45973754
8MP0000566_synostosis3.31129345
9MP0002139_abnormal_hepatobiliary_system3.28542506
10MP0010094_abnormal_chromosome_stability3.18446159
11MP0003077_abnormal_cell_cycle3.03978244
12MP0009840_abnormal_foam_cell2.91045442
13MP0005360_urolithiasis2.84521421
14MP0008057_abnormal_DNA_replication2.80228072
15MP0004130_abnormal_muscle_cell2.76187453
16MP0005365_abnormal_bile_salt2.57301472
17MP0005085_abnormal_gallbladder_physiolo2.51678351
18MP0000383_abnormal_hair_follicle2.46914611
19MP0002396_abnormal_hematopoietic_system2.38146781
20MP0008058_abnormal_DNA_repair2.27718090
21MP0004134_abnormal_chest_morphology2.19493047
22MP0001730_embryonic_growth_arrest2.06987128
23MP0008007_abnormal_cellular_replicative2.01208330
24MP0003656_abnormal_erythrocyte_physiolo1.96058524
25MP0002089_abnormal_postnatal_growth/wei1.95787018
26MP0003879_abnormal_hair_cell1.85642815
27MP0004145_abnormal_muscle_electrophysio1.84782773
28MP0008875_abnormal_xenobiotic_pharmacok1.82951262
29MP0003718_maternal_effect1.82701084
30MP0008932_abnormal_embryonic_tissue1.79279052
31MP0009333_abnormal_splenocyte_physiolog1.72034361
32MP0003786_premature_aging1.66479643
33MP0010678_abnormal_skin_adnexa1.64208885
34MP0003186_abnormal_redox_activity1.63763005
35MP0003011_delayed_dark_adaptation1.63556397
36MP0000350_abnormal_cell_proliferation1.63067292
37MP0003123_paternal_imprinting1.57814905
38MP0002277_abnormal_respiratory_mucosa1.57369322
39MP0003938_abnormal_ear_development1.56578464
40MP0010352_gastrointestinal_tract_polyps1.55919806
41MP0005397_hematopoietic_system_phenotyp1.54911299
42MP0001545_abnormal_hematopoietic_system1.54911299
43MP0001485_abnormal_pinna_reflex1.54011390
44MP0000490_abnormal_crypts_of1.53999016
45MP0009115_abnormal_fat_cell1.53453219
46MP0003315_abnormal_perineum_morphology1.44034293
47MP0001663_abnormal_digestive_system1.42717560
48MP0002876_abnormal_thyroid_physiology1.41889344
49MP0000609_abnormal_liver_physiology1.40184035
50MP0001440_abnormal_grooming_behavior1.38565589
51MP0009053_abnormal_anal_canal1.37165227
52MP0002080_prenatal_lethality1.36965121
53MP0001764_abnormal_homeostasis1.35600839
54MP0010307_abnormal_tumor_latency1.35001200
55MP0002009_preneoplasia1.34321737
56MP0002019_abnormal_tumor_incidence1.33199728
57MP0001672_abnormal_embryogenesis/_devel1.32326449
58MP0005380_embryogenesis_phenotype1.32326449
59MP0003763_abnormal_thymus_physiology1.30426914
60MP0005332_abnormal_amino_acid1.30413280
61MP0010329_abnormal_lipoprotein_level1.28532926
62MP0001697_abnormal_embryo_size1.28532412
63MP0005076_abnormal_cell_differentiation1.27709655
64MP0004742_abnormal_vestibular_system1.27660209
65MP0006036_abnormal_mitochondrial_physio1.27594363
66MP0005381_digestive/alimentary_phenotyp1.26258006
67MP0003136_yellow_coat_color1.23293037
68MP0004808_abnormal_hematopoietic_stem1.22408672
69MP0001853_heart_inflammation1.21994423
70MP0000313_abnormal_cell_death1.21908206
71MP0003984_embryonic_growth_retardation1.21105760
72MP0005319_abnormal_enzyme/_coenzyme1.21065386
73MP0000598_abnormal_liver_morphology1.20830574
74MP0000689_abnormal_spleen_morphology1.19975142
75MP0002088_abnormal_embryonic_growth/wei1.18760590
76MP0000358_abnormal_cell_content/1.18622265
77MP0003890_abnormal_embryonic-extraembry1.18587942
78MP0002398_abnormal_bone_marrow1.18328834
79MP0002722_abnormal_immune_system1.16777210
80MP0005083_abnormal_biliary_tract1.15786096
81MP0000604_amyloidosis1.15676867
82MP0003828_pulmonary_edema1.14725761
83MP0000026_abnormal_inner_ear1.11855093
84MP0005646_abnormal_pituitary_gland1.09962111
85MP0002086_abnormal_extraembryonic_tissu1.08664315
86MP0002098_abnormal_vibrissa_morphology1.08055641
87MP0005379_endocrine/exocrine_gland_phen1.07310582
88MP0003252_abnormal_bile_duct1.06438467
89MP0006035_abnormal_mitochondrial_morpho1.06377757
90MP0003191_abnormal_cellular_cholesterol1.06253943
91MP0002210_abnormal_sex_determination1.06115933
92MP0008877_abnormal_DNA_methylation1.05921415
93MP0004510_myositis1.05317804
94MP0008260_abnormal_autophagy1.04876392
95MP0003195_calcinosis1.03892035
96MP0002092_abnormal_eye_morphology1.03528432
97MP0003436_decreased_susceptibility_to1.02993541
98MP0000049_abnormal_middle_ear1.02195302
99MP0005174_abnormal_tail_pigmentation1.00314084
100MP0001145_abnormal_male_reproductive1.00307273
101MP0003221_abnormal_cardiomyocyte_apopto1.00021010
102MP0000703_abnormal_thymus_morphology0.99817828
103MP0002909_abnormal_adrenal_gland0.99606856
104MP0001929_abnormal_gametogenesis0.99571955
105MP0002138_abnormal_hepatobiliary_system0.98789481
106MP0003567_abnormal_fetal_cardiomyocyte0.98045637
107MP0004947_skin_inflammation0.97824270
108MP0002429_abnormal_blood_cell0.97565696
109MP0001879_abnormal_lymphatic_vessel0.97501210
110MP0000858_altered_metastatic_potential0.96237861
111MP0005167_abnormal_blood-brain_barrier0.94878435
112MP0003705_abnormal_hypodermis_morpholog0.94245020
113MP0009672_abnormal_birth_weight0.93880609
114MP0003385_abnormal_body_wall0.93724088
115MP0004185_abnormal_adipocyte_glucose0.93113693
116MP0005448_abnormal_energy_balance0.91232984
117MP0000427_abnormal_hair_cycle0.91228224
118MP0008961_abnormal_basal_metabolism0.90301081
119MP0004197_abnormal_fetal_growth/weight/0.90278973
120MP0002085_abnormal_embryonic_tissue0.89291522
121MP0000685_abnormal_immune_system0.87880359
122MP0001800_abnormal_humoral_immune0.87719130
123MP0002653_abnormal_ependyma_morphology0.87406035
124MP0002132_abnormal_respiratory_system0.85760153
125MP0000716_abnormal_immune_system0.85696768
126MP0004019_abnormal_vitamin_homeostasis0.85544732
127MP0004233_abnormal_muscle_weight0.85264145
128MP0002166_altered_tumor_susceptibility0.84578293
129MP0008469_abnormal_protein_level0.84229962
130MP0004883_abnormal_blood_vessel0.84202172
131MP0001666_abnormal_nutrient_absorption0.84031327
132MP0001765_abnormal_ion_homeostasis0.83933695
133MP0002160_abnormal_reproductive_system0.83692656
134MP0005266_abnormal_metabolism0.83329506
135MP0000653_abnormal_sex_gland0.82816705
136MP0005023_abnormal_wound_healing0.82667035
137MP0002118_abnormal_lipid_homeostasis0.81454718
138MP0005389_reproductive_system_phenotype0.81121861
139MP0002084_abnormal_developmental_patter0.79526119
140MP0003632_abnormal_nervous_system0.78652836
141MP0000371_diluted_coat_color0.77230484
142MP0009643_abnormal_urine_homeostasis0.77179898
143MP0002998_abnormal_bone_remodeling0.77042061
144MP0003119_abnormal_digestive_system0.74846134
145MP0000647_abnormal_sebaceous_gland0.74680020
146MP0001661_extended_life_span0.74097010
147MP0005464_abnormal_platelet_physiology0.74012438
148MP0000767_abnormal_smooth_muscle0.73922966
149MP0009764_decreased_sensitivity_to0.73849409
150MP0002723_abnormal_immune_serum0.73720478
151MP0002971_abnormal_brown_adipose0.72948854
152MP0000631_abnormal_neuroendocrine_gland0.72699795
153MP0002234_abnormal_pharynx_morphology0.72519375
154MP0001346_abnormal_lacrimal_gland0.71874135
155MP0009250_abnormal_appendicular_skeleto0.71657692
156MP0009379_abnormal_foot_pigmentation0.71110386
157MP0003172_abnormal_lysosome_physiology0.69830346
158MP0000477_abnormal_intestine_morphology0.69642762
159MP0004142_abnormal_muscle_tone0.68561861
160MP0003878_abnormal_ear_physiology0.68482618
161MP0005377_hearing/vestibular/ear_phenot0.68482618
162MP0000778_abnormal_nervous_system0.67984719
163MP0002249_abnormal_larynx_morphology0.66525715
164MP0009763_increased_sensitivity_to0.66171391
165MP0003937_abnormal_limbs/digits/tail_de0.66082282
166MP0002452_abnormal_antigen_presenting0.65738127
167MP0004043_abnormal_pH_regulation0.65515156
168MP0005451_abnormal_body_composition0.65415381
169MP0001293_anophthalmia0.65328119
170MP0005384_cellular_phenotype0.64775726
171MP0002420_abnormal_adaptive_immunity0.64758368
172MP0005636_abnormal_mineral_homeostasis0.63781218
173MP0001819_abnormal_immune_cell0.63752456
174MP0003329_amyloid_beta_deposits0.63690019
175MP0008873_increased_physiological_sensi0.63333101
176MP0000534_abnormal_ureter_morphology0.63263584
177MP0000733_abnormal_muscle_development0.63056905
178MP0000013_abnormal_adipose_tissue0.60350926
179MP0003137_abnormal_impulse_conducting0.59735231
180MP0003638_abnormal_response/metabolism_0.58867071

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)5.38161282
2Abnormality of the axillary hair (HP:0100134)5.24379678
3Abnormality of secondary sexual hair (HP:0009888)5.24379678
4Abnormality of cells of the erythroid lineage (HP:0012130)4.38252086
5Birth length less than 3rd percentile (HP:0003561)4.33010707
6Abnormal number of erythroid precursors (HP:0012131)4.20476069
7Abnormality of aromatic amino acid family metabolism (HP:0004338)4.05896897
8Clumsiness (HP:0002312)3.84523695
9Abnormality of monocarboxylic acid metabolism (HP:0010996)3.83327920
10Megalencephaly (HP:0001355)3.80362549
11Hyperglycinemia (HP:0002154)3.78680239
12Hypobetalipoproteinemia (HP:0003563)3.72692335
13Recurrent gram-negative bacterial infections (HP:0005420)3.69486630
14Reticulocytopenia (HP:0001896)3.65483076
15Mediastinal lymphadenopathy (HP:0100721)3.55601448
16Abnormality of pyrimidine metabolism (HP:0004353)3.55385802
17Oral leukoplakia (HP:0002745)3.53450186
18Nasolacrimal duct obstruction (HP:0000579)3.48852572
19Breast hypoplasia (HP:0003187)3.47487498
20Aplasia involving bones of the extremities (HP:0009825)3.35213710
21Aplasia involving bones of the upper limbs (HP:0009823)3.35213710
22Aplasia of the phalanges of the hand (HP:0009802)3.35213710
23Abnormality of the right ventricle (HP:0001707)3.30745285
24Macrocytic anemia (HP:0001972)3.28429761
25Multiple enchondromatosis (HP:0005701)3.26104629
26Decreased circulating renin level (HP:0003351)3.12857660
27Concave nail (HP:0001598)3.09694332
28Cerebral hypomyelination (HP:0006808)3.08851481
29Progressive muscle weakness (HP:0003323)3.06770938
30Periauricular skin pits (HP:0100277)3.04426063
31Preauricular pit (HP:0004467)3.04426063
32Oligodontia (HP:0000677)2.99762682
33Carpal bone hypoplasia (HP:0001498)2.92944624
34Hyperglycinuria (HP:0003108)2.89018170
35Recurrent bacterial skin infections (HP:0005406)2.88079344
36Abnormality of serum amino acid levels (HP:0003112)2.87429602
37Intrahepatic cholestasis (HP:0001406)2.85646934
38Rough bone trabeculation (HP:0100670)2.82242120
39Abnormality of the renal collecting system (HP:0004742)2.81729596
40Hypoalphalipoproteinemia (HP:0003233)2.81583152
41Pallor (HP:0000980)2.79274066
42Alopecia of scalp (HP:0002293)2.77150682
43Impulsivity (HP:0100710)2.69598213
44Abnormality of the nasal septum (HP:0000419)2.69218640
45Vaginal fistula (HP:0004320)2.69018903
46Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.67221339
47Short 4th metacarpal (HP:0010044)2.67221339
48Abnormality of the lacrimal duct (HP:0011481)2.66026500
49Abnormality of glycine metabolism (HP:0010895)2.65177013
50Abnormality of serine family amino acid metabolism (HP:0010894)2.65177013
51Mesangial abnormality (HP:0001966)2.63986800
52Hyperammonemia (HP:0001987)2.62787577
53Deep venous thrombosis (HP:0002625)2.62635262
54Osteomalacia (HP:0002749)2.61736349
55Microretrognathia (HP:0000308)2.61183474
56Late onset (HP:0003584)2.57432904
57Xanthomatosis (HP:0000991)2.55874295
58Thrombocytosis (HP:0001894)2.54909541
59Megaloblastic anemia (HP:0001889)2.54491910
60Premature ovarian failure (HP:0008209)2.51399884
61Prolonged partial thromboplastin time (HP:0003645)2.49482800
62Metabolic alkalosis (HP:0200114)2.48257679
63Supernumerary bones of the axial skeleton (HP:0009144)2.45840819
64Colon cancer (HP:0003003)2.45131445
65Depressed nasal tip (HP:0000437)2.45045608
66Abnormality of the nasolacrimal system (HP:0000614)2.44704777
67Entropion (HP:0000621)2.44491748
68Abnormality of the anterior horn cell (HP:0006802)2.42305653
69Degeneration of anterior horn cells (HP:0002398)2.42305653
70Selective tooth agenesis (HP:0001592)2.42210564
71Abnormality of reticulocytes (HP:0004312)2.42171080
72Cheilitis (HP:0100825)2.41895224
73Maternal diabetes (HP:0009800)2.41659314
74Short femoral neck (HP:0100864)2.40104279
75Secondary amenorrhea (HP:0000869)2.39142161
76Aplastic anemia (HP:0001915)2.38462991
77Reduced antithrombin III activity (HP:0001976)2.34998912
78Decreased activity of mitochondrial respiratory chain (HP:0008972)2.34350681
79Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.34350681
80Abnormality of methionine metabolism (HP:0010901)2.32882890
81Recurrent abscess formation (HP:0002722)2.29555851
82Spastic diplegia (HP:0001264)2.28719343
83Hypoplasia of the ulna (HP:0003022)2.28714966
84Conical tooth (HP:0000698)2.27644918
85Hypolipoproteinemia (HP:0010981)2.27241139
86Abnormality of the phalanges of the 2nd finger (HP:0009541)2.22810240
87Abnormality of sulfur amino acid metabolism (HP:0004339)2.22432999
88Abnormality of permanent molar morphology (HP:0011071)2.21104966
89Abnormality of the dental root (HP:0006486)2.21104966
90Taurodontia (HP:0000679)2.21104966
91Long nose (HP:0003189)2.20958086
92Trismus (HP:0000211)2.20145720
93Hyperlipoproteinemia (HP:0010980)2.19164944
94Hypoplasia of dental enamel (HP:0006297)2.18691864
95Abnormality of the heme biosynthetic pathway (HP:0010472)2.17576790
96Hypoplastic labia majora (HP:0000059)2.16498705
97Patellar aplasia (HP:0006443)2.15023466
98Skin pits (HP:0100276)2.13070842
99Intestinal fistula (HP:0100819)2.12879022
100Ependymoma (HP:0002888)2.12113063
101Abnormal spermatogenesis (HP:0008669)2.11835796
102Aplasia/Hypoplasia of the patella (HP:0006498)2.11706652
103CNS hypomyelination (HP:0003429)2.09332246
104Flat occiput (HP:0005469)2.08776846
105Lethargy (HP:0001254)2.08699202
106Gout (HP:0001997)2.08148390
107Neurofibrillary tangles (HP:0002185)2.06258092
108Lip pit (HP:0100267)2.05847103
109Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.05708208
110Rectal fistula (HP:0100590)2.04723125
111Rectovaginal fistula (HP:0000143)2.04723125
112IgM deficiency (HP:0002850)2.04537368
113Abnormality of the dental pulp (HP:0006479)2.03772404
114Abnormal number of incisors (HP:0011064)2.03658210
115Neoplasm of the pancreas (HP:0002894)2.02234000
116Partial duplication of thumb phalanx (HP:0009944)2.02167933
117Basal cell carcinoma (HP:0002671)2.01817234
118Abnormality of the fibula (HP:0002991)2.01672849
119Absent thumb (HP:0009777)2.00154193
120Increased serum ferritin (HP:0003281)2.00078377
121Supernumerary ribs (HP:0005815)2.00028654
122Abnormal cartilage morphology (HP:0002763)2.00024218
123Partial duplication of the phalanx of hand (HP:0009999)1.99227979
124Increased serum lactate (HP:0002151)1.98385191
125Duplicated collecting system (HP:0000081)1.98235489
126Death in infancy (HP:0001522)1.98134610
127Abnormality of nucleobase metabolism (HP:0010932)1.98130491
128Hypoplasia of the uterus (HP:0000013)1.98070265
129Anal stenosis (HP:0002025)1.97293874
130Personality changes (HP:0000751)1.96930741
131Abnormality of the 4th metacarpal (HP:0010012)1.96900670
132Recurrent fungal infections (HP:0002841)1.96543141
133Bilateral microphthalmos (HP:0007633)1.96486873
134Bulbous nose (HP:0000414)1.95284711
135Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.94639505
1362-3 toe syndactyly (HP:0004691)1.93646152
137Recurrent skin infections (HP:0001581)1.93489793
138Abnormality of aspartate family amino acid metabolism (HP:0010899)1.93311823
139Abnormality of the labia majora (HP:0012881)1.92866486
140Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.92488374
141Abnormality of molar morphology (HP:0011070)1.91848431
142Abnormality of molar (HP:0011077)1.91848431
143Petechiae (HP:0000967)1.91387831
144Pancytopenia (HP:0001876)1.91241529
145Cellular immunodeficiency (HP:0005374)1.91107419
146Hypotrichosis (HP:0001006)1.90945381
147Persistence of primary teeth (HP:0006335)1.90764809
148Labial hypoplasia (HP:0000066)1.89428136
149Abnormal trabecular bone morphology (HP:0100671)1.89255743
150Bronchomalacia (HP:0002780)1.86419164
151CNS demyelination (HP:0007305)1.85417394
152Fair hair (HP:0002286)1.85167377
153Hypercholesterolemia (HP:0003124)1.85060924
154Abnormality of iron homeostasis (HP:0011031)1.84885268
155Rhabdomyosarcoma (HP:0002859)1.84200750
156Mixed hearing impairment (HP:0000410)1.83745791
157Cortical visual impairment (HP:0100704)1.83398684
158Abnormality of lateral ventricle (HP:0030047)1.82911286
159Vascular calcification (HP:0004934)1.82847599
160Hyperbilirubinemia (HP:0002904)1.82286708
161Squamous cell carcinoma (HP:0002860)1.81411239
162Sparse eyelashes (HP:0000653)1.80629401
163Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.80332792
164Degeneration of the lateral corticospinal tracts (HP:0002314)1.80332792
165Aplasia/Hypoplasia of the ulna (HP:0006495)1.79724252
166Prominent nose (HP:0000448)1.79058926
167Poikiloderma (HP:0001029)1.78448188
168Dynein arm defect of respiratory motile cilia (HP:0012255)1.77259939
169Absent/shortened dynein arms (HP:0200106)1.77259939
170Myocardial infarction (HP:0001658)1.76439310
171Abnormality of the intrinsic pathway (HP:0010989)1.76069192
172Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.75675463
173Anophthalmia (HP:0000528)1.75232462
174Abnormality of transition element cation homeostasis (HP:0011030)1.74992878
175Abnormality of the motor neurons (HP:0002450)1.74865411
176Abnormal neuron morphology (HP:0012757)1.74865411
177Abnormality of the 2nd finger (HP:0004100)1.73931394
178Abnormality of the frontal sinuses (HP:0002687)1.72982484
179Reticulocytosis (HP:0001923)1.72808082
180Abnormality of macrophages (HP:0004311)1.72612835
181Microvesicular hepatic steatosis (HP:0001414)1.72448642
182Atrophy/Degeneration involving motor neurons (HP:0007373)1.72317582
183Delayed CNS myelination (HP:0002188)1.71503274
184Corneal erosion (HP:0200020)1.70975468
185Premature graying of hair (HP:0002216)1.70817012
186Agnosia (HP:0010524)1.70287161
187Horseshoe kidney (HP:0000085)1.70073382
188Abnormality of the common coagulation pathway (HP:0010990)1.70054194
189Paralysis (HP:0003470)1.69676773
190Muscle fiber inclusion bodies (HP:0100299)1.69473060
191Pustule (HP:0200039)1.69190584
192Proximal tubulopathy (HP:0000114)1.68462326
193Impaired platelet aggregation (HP:0003540)1.68051443
194Abnormal platelet function (HP:0011869)1.68051443
195Myelodysplasia (HP:0002863)1.67127332

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.63218739
2WEE13.82057470
3NME23.63332585
4EIF2AK13.45085851
5STK242.91630308
6NEK22.77021146
7CAMK1D2.64827247
8TESK22.46514738
9CDC72.43100160
10CDK122.41780009
11BCKDK2.38100922
12STK162.38099683
13PNCK2.33402171
14ACVR1B2.33179271
15INSRR2.28056512
16CAMKK22.20438626
17TLK12.08303335
18TSSK62.01589189
19EIF2AK32.01392862
20CAMK1G1.99577230
21DYRK31.93629259
22EPHB21.87407466
23MAP4K11.84601881
24BRSK21.82273212
25RPS6KA41.81229192
26KDR1.75936193
27IRAK31.72746368
28MAPK151.69560741
29PIM21.66511418
30FLT31.62924867
31SRPK11.62853687
32ICK1.59083433
33NEK11.55907059
34SCYL21.54852783
35RPS6KA61.52507363
36PKN21.51747579
37SGK21.49944561
38RPS6KA21.48029418
39TAF11.46715727
40FGFR31.46396832
41PTK61.45729006
42RPS6KB21.42709425
43CDK71.41850681
44PLK11.41809623
45PHKG11.40921122
46PHKG21.40921122
47EEF2K1.40278222
48PLK41.38247534
49TTK1.38042326
50CHUK1.35343554
51RPS6KC11.32942183
52RPS6KL11.32942183
53MAP2K31.30763897
54MAP3K111.29978318
55EPHA21.28789933
56ZAP701.27543177
57CDK41.25924456
58TAOK31.25848628
59AURKB1.25609530
60MAP3K81.22087168
61CAMK41.21045751
62TRIB31.20942604
63TYRO31.20532582
64PRKAA21.20126915
65VRK11.18544918
66DMPK1.18008335
67TRPM71.17955051
68WNK11.15403256
69MAPK121.13669484
70MAP3K141.12854478
71AURKA1.10961464
72ERBB21.10297561
73STK101.10092279
74PASK1.09977422
75SGK4941.08735360
76SGK2231.08735360
77ATR1.08626332
78MAP3K21.07893187
79BRSK11.05370630
80TGFBR11.03471269
81BLK1.01821746
82PIM11.01310071
83IRAK21.00891475
84CAMKK10.99088245
85ERN10.98308999
86SGK30.97971628
87MAPKAPK30.97436085
88DYRK1B0.96385284
89IRAK40.93696705
90AKT30.90515445
91SIK10.89956090
92WNK40.87678266
93BRD40.87530613
94MAP3K100.86934946
95CHEK20.85666444
96MKNK10.84808582
97GRK60.83109244
98MAP2K40.81324390
99STK110.80042822
100MKNK20.79961483
101TESK10.79882502
102TYK20.78910304
103CHEK10.78723452
104LRRK20.78665967
105RPS6KA10.78103056
106PDK30.75504056
107PDK40.75504056
108PAK40.75363916
109SIK20.75360387
110FGFR40.75099403
111PAK10.72601362
112ADRBK20.70705137
113FGFR20.69924956
114FRK0.67969500
115CSNK2A20.67751324
116MAP2K20.67011492
117OBSCN0.66588139
118TBK10.65753315
119MAPK70.64546904
120ITK0.63862551
121ABL20.61603131
122SGK10.60953863
123HIPK20.60072921
124TAOK20.59929230
125TAOK10.59286175
126TTN0.59135573
127PRKCG0.59095002
128MAP3K30.58442131
129RAF10.58353648
130PLK30.58249768
131BRAF0.57559059
132MAPK110.56217329
133CDK20.55758071
134CSNK2A10.52878183
135IRAK10.52600867
136MAP3K50.52379317
137PRKCZ0.52137339
138RPS6KB10.50802165
139IKBKE0.50620743
140BTK0.48790478
141JAK30.47844950
142NEK90.46793839
143ALK0.46310872
144CCNB10.45396516
145JAK20.43527136
146CDK60.43065332
147KIT0.42786377
148STK40.42670391
149NLK0.42573471
150MATK0.42323620
151PAK20.42040722
152PRKACG0.41508930
153ATM0.40754971
154TEC0.39650944
155SYK0.39622050
156PDGFRB0.39224826
157PRKCI0.39163303
158FGFR10.39103563
159RPS6KA50.38644896
160IKBKB0.37290008
161MARK30.36927281
162PDPK10.36750161
163PKN10.36327550
164SMG10.36321639
165PRKACA0.34943738
166LATS20.34660555
167CSF1R0.34282845
168MTOR0.33134131
169NME10.32636980
170AKT20.31804082
171MAP2K60.30680917
172STK30.30577447

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.58853801
2Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.38759716
3Maturity onset diabetes of the young_Homo sapiens_hsa049503.33624463
4Ribosome_Homo sapiens_hsa030103.27722117
5RNA polymerase_Homo sapiens_hsa030203.00468323
6Proteasome_Homo sapiens_hsa030502.97098650
7Mismatch repair_Homo sapiens_hsa034302.70313783
8RNA transport_Homo sapiens_hsa030132.50886324
9Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.48711867
10One carbon pool by folate_Homo sapiens_hsa006702.48181236
11Spliceosome_Homo sapiens_hsa030402.46203365
12Other glycan degradation_Homo sapiens_hsa005112.42959404
13Pyrimidine metabolism_Homo sapiens_hsa002402.38199647
14Folate biosynthesis_Homo sapiens_hsa007902.31802961
15Vitamin B6 metabolism_Homo sapiens_hsa007502.22020849
16Renin-angiotensin system_Homo sapiens_hsa046142.21862510
17Base excision repair_Homo sapiens_hsa034102.09660787
18Sulfur relay system_Homo sapiens_hsa041222.06064703
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.00248394
20Cysteine and methionine metabolism_Homo sapiens_hsa002701.97452231
21Dorso-ventral axis formation_Homo sapiens_hsa043201.97141902
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.96831079
23Nucleotide excision repair_Homo sapiens_hsa034201.96710901
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.86896324
25Homologous recombination_Homo sapiens_hsa034401.85082309
26Selenocompound metabolism_Homo sapiens_hsa004501.84441980
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.77370436
28Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.70327418
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.64308248
30Biosynthesis of amino acids_Homo sapiens_hsa012301.62687361
31Cell cycle_Homo sapiens_hsa041101.59351100
32Pentose phosphate pathway_Homo sapiens_hsa000301.57483837
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.53150614
34Sphingolipid metabolism_Homo sapiens_hsa006001.52538935
35Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.46630724
36alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.43396297
37Adipocytokine signaling pathway_Homo sapiens_hsa049201.39800794
38Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.34358825
39Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.33493919
40Notch signaling pathway_Homo sapiens_hsa043301.32375117
41Insulin resistance_Homo sapiens_hsa049311.31584118
422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.28140609
43Basal transcription factors_Homo sapiens_hsa030221.25769464
44Cyanoamino acid metabolism_Homo sapiens_hsa004601.23670908
45Carbon metabolism_Homo sapiens_hsa012001.19327046
46Sulfur metabolism_Homo sapiens_hsa009201.17543598
47Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.16775991
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.16472994
49Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.15800615
50Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.15114432
51RNA degradation_Homo sapiens_hsa030181.15070572
52Arginine biosynthesis_Homo sapiens_hsa002201.15000719
53Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.13226362
54Fanconi anemia pathway_Homo sapiens_hsa034601.12190932
55Cholinergic synapse_Homo sapiens_hsa047251.10827999
56MAPK signaling pathway_Homo sapiens_hsa040101.10780162
57Purine metabolism_Homo sapiens_hsa002301.10713237
58Mineral absorption_Homo sapiens_hsa049781.09203077
59Intestinal immune network for IgA production_Homo sapiens_hsa046721.08418511
60Linoleic acid metabolism_Homo sapiens_hsa005911.08103225
61mTOR signaling pathway_Homo sapiens_hsa041501.05891281
62ABC transporters_Homo sapiens_hsa020101.05325653
63p53 signaling pathway_Homo sapiens_hsa041151.04923746
64Glycerolipid metabolism_Homo sapiens_hsa005611.04389566
65Ether lipid metabolism_Homo sapiens_hsa005651.02204071
66NOD-like receptor signaling pathway_Homo sapiens_hsa046211.01149308
67Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.00075551
68Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.99927550
69Basal cell carcinoma_Homo sapiens_hsa052170.97999691
70Pentose and glucuronate interconversions_Homo sapiens_hsa000400.97588015
71Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.97333485
72mRNA surveillance pathway_Homo sapiens_hsa030150.92286465
73Non-homologous end-joining_Homo sapiens_hsa034500.91317306
74Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.90302239
75Epstein-Barr virus infection_Homo sapiens_hsa051690.88975407
76Glutathione metabolism_Homo sapiens_hsa004800.87392872
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.85730265
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.85596120
79Complement and coagulation cascades_Homo sapiens_hsa046100.84785410
80Renin secretion_Homo sapiens_hsa049240.84595017
81Leishmaniasis_Homo sapiens_hsa051400.83965220
82TNF signaling pathway_Homo sapiens_hsa046680.81601124
83Tryptophan metabolism_Homo sapiens_hsa003800.79794790
84Chemokine signaling pathway_Homo sapiens_hsa040620.79692682
85Hedgehog signaling pathway_Homo sapiens_hsa043400.78030189
86Nitrogen metabolism_Homo sapiens_hsa009100.77915846
87Bladder cancer_Homo sapiens_hsa052190.77444896
88FoxO signaling pathway_Homo sapiens_hsa040680.76061993
89Carbohydrate digestion and absorption_Homo sapiens_hsa049730.75233793
90Asthma_Homo sapiens_hsa053100.74521182
91Glutamatergic synapse_Homo sapiens_hsa047240.74500615
92Osteoclast differentiation_Homo sapiens_hsa043800.73592813
93MicroRNAs in cancer_Homo sapiens_hsa052060.72689202
94Axon guidance_Homo sapiens_hsa043600.72313628
95Antigen processing and presentation_Homo sapiens_hsa046120.72017789
96Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.71142185
97Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.70973526
98Fatty acid degradation_Homo sapiens_hsa000710.70562877
99Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.69974333
100Non-small cell lung cancer_Homo sapiens_hsa052230.69659177
101Pyruvate metabolism_Homo sapiens_hsa006200.68189111
102Insulin signaling pathway_Homo sapiens_hsa049100.68106752
103B cell receptor signaling pathway_Homo sapiens_hsa046620.67845602
104Caffeine metabolism_Homo sapiens_hsa002320.67045590
105Type II diabetes mellitus_Homo sapiens_hsa049300.66299056
106Chemical carcinogenesis_Homo sapiens_hsa052040.66233904
107NF-kappa B signaling pathway_Homo sapiens_hsa040640.65970924
108Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.65881512
109Herpes simplex infection_Homo sapiens_hsa051680.65610935
110Toll-like receptor signaling pathway_Homo sapiens_hsa046200.65377847
111Renal cell carcinoma_Homo sapiens_hsa052110.65236742
112Peroxisome_Homo sapiens_hsa041460.65033177
113Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.64770935
114Vitamin digestion and absorption_Homo sapiens_hsa049770.64016195
115beta-Alanine metabolism_Homo sapiens_hsa004100.62337721
116Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61936388
117Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.60719015
118Bile secretion_Homo sapiens_hsa049760.59238327
119GnRH signaling pathway_Homo sapiens_hsa049120.58638885
120ErbB signaling pathway_Homo sapiens_hsa040120.58133163
121Arginine and proline metabolism_Homo sapiens_hsa003300.57964470
122Tuberculosis_Homo sapiens_hsa051520.57340073
123Systemic lupus erythematosus_Homo sapiens_hsa053220.57077375
124Serotonergic synapse_Homo sapiens_hsa047260.56678519
125Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.54152652
126Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.54006673
127Retinol metabolism_Homo sapiens_hsa008300.53807414
128Thyroid cancer_Homo sapiens_hsa052160.53337313
129Fructose and mannose metabolism_Homo sapiens_hsa000510.52408180
130Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.52182508
131Rheumatoid arthritis_Homo sapiens_hsa053230.52042368
132Fatty acid biosynthesis_Homo sapiens_hsa000610.52004455
133Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.51759162
134Metabolic pathways_Homo sapiens_hsa011000.51265328
135Propanoate metabolism_Homo sapiens_hsa006400.50701392
136Oxytocin signaling pathway_Homo sapiens_hsa049210.50643359
137Morphine addiction_Homo sapiens_hsa050320.50589351
138Phospholipase D signaling pathway_Homo sapiens_hsa040720.50480546
139AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.49491906
140Regulation of autophagy_Homo sapiens_hsa041400.49413909
141T cell receptor signaling pathway_Homo sapiens_hsa046600.49370229
142AMPK signaling pathway_Homo sapiens_hsa041520.49350511
143Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.48714901
144Transcriptional misregulation in cancer_Homo sapiens_hsa052020.47983444
145Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47969643
146Jak-STAT signaling pathway_Homo sapiens_hsa046300.46949632
147HIF-1 signaling pathway_Homo sapiens_hsa040660.46478493
148Primary immunodeficiency_Homo sapiens_hsa053400.46196178
149Viral carcinogenesis_Homo sapiens_hsa052030.45903166
150Steroid hormone biosynthesis_Homo sapiens_hsa001400.45407057
151Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.44671435
152Fat digestion and absorption_Homo sapiens_hsa049750.44374854
153Toxoplasmosis_Homo sapiens_hsa051450.44359493
154VEGF signaling pathway_Homo sapiens_hsa043700.44189297
155Rap1 signaling pathway_Homo sapiens_hsa040150.44018496
156Ras signaling pathway_Homo sapiens_hsa040140.42566794
157Galactose metabolism_Homo sapiens_hsa000520.41566080
158Circadian rhythm_Homo sapiens_hsa047100.40421162
159Phenylalanine metabolism_Homo sapiens_hsa003600.39392457
160Prostate cancer_Homo sapiens_hsa052150.39142863
161Pathways in cancer_Homo sapiens_hsa052000.39126801
162Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.38694577
163Lysosome_Homo sapiens_hsa041420.38421947
164Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37249447
165Legionellosis_Homo sapiens_hsa051340.37080117
166Histidine metabolism_Homo sapiens_hsa003400.36140988
167Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.36094808
168Leukocyte transendothelial migration_Homo sapiens_hsa046700.35451666
169Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35319955
170Staphylococcus aureus infection_Homo sapiens_hsa051500.34798073
171Glucagon signaling pathway_Homo sapiens_hsa049220.34226279
172Protein export_Homo sapiens_hsa030600.31720109
173Tyrosine metabolism_Homo sapiens_hsa003500.30031834
174PPAR signaling pathway_Homo sapiens_hsa033200.28066401
175Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26656852
176Oocyte meiosis_Homo sapiens_hsa041140.26380649
177Acute myeloid leukemia_Homo sapiens_hsa052210.24264615
178Butanoate metabolism_Homo sapiens_hsa006500.23788537
179Glycerophospholipid metabolism_Homo sapiens_hsa005640.23391069
180N-Glycan biosynthesis_Homo sapiens_hsa005100.22212791
181HTLV-I infection_Homo sapiens_hsa051660.22140448
182Apoptosis_Homo sapiens_hsa042100.21513259
183Starch and sucrose metabolism_Homo sapiens_hsa005000.18843266
184Shigellosis_Homo sapiens_hsa051310.18389957

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