MIPEP

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 product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1lysine metabolic process (GO:0006553)5.78757364
2lysine catabolic process (GO:0006554)5.78757364
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.45084180
4L-phenylalanine catabolic process (GO:0006559)5.45084180
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.41288901
6L-phenylalanine metabolic process (GO:0006558)5.41288901
7fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.11337044
8alpha-linolenic acid metabolic process (GO:0036109)5.09620016
9glyoxylate metabolic process (GO:0046487)4.94862278
10amino-acid betaine metabolic process (GO:0006577)4.85859163
11aromatic amino acid family catabolic process (GO:0009074)4.83199598
12aspartate family amino acid catabolic process (GO:0009068)4.82103472
13triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.79175896
14cysteine metabolic process (GO:0006534)4.72869892
15tricarboxylic acid cycle (GO:0006099)4.68885950
16telomere maintenance via semi-conservative replication (GO:0032201)4.63252138
17kynurenine metabolic process (GO:0070189)4.60651978
18cellular ketone body metabolic process (GO:0046950)4.60232485
19DNA strand elongation involved in DNA replication (GO:0006271)4.57675713
20urea cycle (GO:0000050)4.53898288
21urea metabolic process (GO:0019627)4.53898288
22sperm motility (GO:0030317)4.52029421
23DNA strand elongation (GO:0022616)4.50862330
24carnitine shuttle (GO:0006853)4.47577593
25fatty acid transmembrane transport (GO:1902001)4.44528437
26sulfur amino acid catabolic process (GO:0000098)4.41859199
272-oxoglutarate metabolic process (GO:0006103)4.40489419
28carnitine metabolic process (GO:0009437)4.39155582
29fatty acid beta-oxidation (GO:0006635)4.37577918
30amino-acid betaine transport (GO:0015838)4.37450254
31carnitine transport (GO:0015879)4.37450254
32bile acid biosynthetic process (GO:0006699)4.34018531
33carnitine transmembrane transport (GO:1902603)4.32194872
34establishment of integrated proviral latency (GO:0075713)4.31372870
35fusion of sperm to egg plasma membrane (GO:0007342)4.28830384
36serine family amino acid catabolic process (GO:0009071)4.28650392
37regulation of triglyceride catabolic process (GO:0010896)4.28574877
38tryptophan catabolic process (GO:0006569)4.24769068
39indole-containing compound catabolic process (GO:0042436)4.24769068
40indolalkylamine catabolic process (GO:0046218)4.24769068
41nitrogen cycle metabolic process (GO:0071941)4.23349249
42acetyl-CoA metabolic process (GO:0006084)4.10610436
43cell wall macromolecule catabolic process (GO:0016998)4.08959729
44cell wall macromolecule metabolic process (GO:0044036)4.08959729
45fatty acid oxidation (GO:0019395)4.03584060
46fatty acid catabolic process (GO:0009062)4.01606589
47sperm-egg recognition (GO:0035036)3.97396440
48tryptophan metabolic process (GO:0006568)3.97371738
49short-chain fatty acid metabolic process (GO:0046459)3.95629881
50ketone body metabolic process (GO:1902224)3.95621350
51telomere maintenance via recombination (GO:0000722)3.95484458
52lipid oxidation (GO:0034440)3.94659960
53alpha-amino acid catabolic process (GO:1901606)3.92362909
54negative regulation of fibrinolysis (GO:0051918)3.82791357
55glycine metabolic process (GO:0006544)3.82317390
56ethanol oxidation (GO:0006069)3.82211584
57high-density lipoprotein particle remodeling (GO:0034375)3.82108219
58binding of sperm to zona pellucida (GO:0007339)3.80915350
59monocarboxylic acid catabolic process (GO:0072329)3.77584032
60homocysteine metabolic process (GO:0050667)3.74534848
61complement activation, alternative pathway (GO:0006957)3.73535077
62regulation of protein activation cascade (GO:2000257)3.72914357
63bile acid metabolic process (GO:0008206)3.66382876
64cellular amino acid catabolic process (GO:0009063)3.65836891
65quaternary ammonium group transport (GO:0015697)3.65389006
66ribosome assembly (GO:0042255)3.63446759
67mitotic recombination (GO:0006312)3.62180545
68regulation of fibrinolysis (GO:0051917)3.61199567
69dicarboxylic acid biosynthetic process (GO:0043650)3.61029288
70serine family amino acid metabolic process (GO:0009069)3.60985121
71organic cation transport (GO:0015695)3.58814809
72COPI coating of Golgi vesicle (GO:0048205)3.57906001
73Golgi transport vesicle coating (GO:0048200)3.57906001
74protein carboxylation (GO:0018214)3.55963667
75peptidyl-glutamic acid carboxylation (GO:0017187)3.55963667
76cell-cell recognition (GO:0009988)3.55678767
77negative regulation of sterol transport (GO:0032372)3.54649312
78negative regulation of cholesterol transport (GO:0032375)3.54649312
79regulation of mitochondrial translation (GO:0070129)3.53776502
80motile cilium assembly (GO:0044458)3.52552055
81acylglycerol homeostasis (GO:0055090)3.51829678
82triglyceride homeostasis (GO:0070328)3.51829678
83valine metabolic process (GO:0006573)3.51487283
84mitotic chromosome condensation (GO:0007076)3.51175225
85protein localization to chromosome, centromeric region (GO:0071459)3.49627410
86organic acid catabolic process (GO:0016054)3.49236281
87carboxylic acid catabolic process (GO:0046395)3.49236281
88regulation of complement activation (GO:0030449)3.49050596
89multicellular organism reproduction (GO:0032504)3.47382293
90aromatic amino acid family metabolic process (GO:0009072)3.46228219
91coenzyme catabolic process (GO:0009109)3.42235270
92establishment of viral latency (GO:0019043)3.42217492
93glutamate metabolic process (GO:0006536)3.40077655
94regulation of fatty acid oxidation (GO:0046320)3.38392207
95axonemal dynein complex assembly (GO:0070286)3.37938870
96serine family amino acid biosynthetic process (GO:0009070)3.37886785
97cellular modified amino acid catabolic process (GO:0042219)3.35057301
98negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.34901904
99regulation of sequestering of triglyceride (GO:0010889)3.34612543
100imidazole-containing compound metabolic process (GO:0052803)3.34095431
101nucleobase-containing small molecule interconversion (GO:0015949)3.33923657
102reverse cholesterol transport (GO:0043691)3.33310946
103plasma lipoprotein particle remodeling (GO:0034369)3.33281581
104protein-lipid complex remodeling (GO:0034368)3.33281581
105macromolecular complex remodeling (GO:0034367)3.33281581
106positive regulation of fatty acid beta-oxidation (GO:0032000)3.32813305
107regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.31731533
108epithelial cilium movement (GO:0003351)3.31208849
109plasma lipoprotein particle clearance (GO:0034381)3.30997710
110acrosome assembly (GO:0001675)3.30763218
111cilium or flagellum-dependent cell motility (GO:0001539)3.28694735
112negative regulation of fatty acid biosynthetic process (GO:0045717)3.28482919
113regulation of fatty acid beta-oxidation (GO:0031998)3.27778514
114protein complex localization (GO:0031503)3.26874091
115drug catabolic process (GO:0042737)3.25565494
116plasma membrane fusion (GO:0045026)3.25250526
117DNA unwinding involved in DNA replication (GO:0006268)3.24782660
118succinate metabolic process (GO:0006105)3.24653319
119proteasome assembly (GO:0043248)3.23968241
120regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.22891378
121DNA replication initiation (GO:0006270)3.19174559
122mitotic metaphase plate congression (GO:0007080)3.19055844
123proline biosynthetic process (GO:0006561)3.18324700
124anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.17764009
125protein localization to kinetochore (GO:0034501)3.17433930
126negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.16621918
127negative regulation of ligase activity (GO:0051352)3.16621918
128nuclear pore complex assembly (GO:0051292)3.14259025
129positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.13306452
130CENP-A containing nucleosome assembly (GO:0034080)3.11910385
131telomere maintenance via telomere lengthening (GO:0010833)3.11507032
132nuclear pore organization (GO:0006999)3.10827653
133chromatin remodeling at centromere (GO:0031055)3.08214996
134folic acid-containing compound biosynthetic process (GO:0009396)3.07663369
135non-recombinational repair (GO:0000726)3.04244442
136double-strand break repair via nonhomologous end joining (GO:0006303)3.04244442
137formation of translation preinitiation complex (GO:0001731)3.02654617
138DNA replication checkpoint (GO:0000076)3.02156323
139cilium movement (GO:0003341)3.00130726
140IMP biosynthetic process (GO:0006188)2.97951857
141cellular protein complex localization (GO:0034629)2.97845701
142positive regulation of chromosome segregation (GO:0051984)2.93473024
143DNA ligation (GO:0006266)2.92921168
144regulation of translational termination (GO:0006449)2.88900588
145nucleotide-excision repair, DNA gap filling (GO:0006297)2.87071001
146base-excision repair (GO:0006284)2.84508879
147regulation of cellular amino acid metabolic process (GO:0006521)2.84074542
148IMP metabolic process (GO:0046040)2.83842180
149ncRNA 3-end processing (GO:0043628)2.82300406
150mitotic nuclear envelope disassembly (GO:0007077)2.81560077
151regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.77948461
152purine nucleobase biosynthetic process (GO:0009113)2.76485546
153metaphase plate congression (GO:0051310)2.75291631
154protein maturation by protein folding (GO:0022417)2.71446034
155positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.71440554
156mitochondrial RNA metabolic process (GO:0000959)2.71112967
157L-serine metabolic process (GO:0006563)2.69743051
158oxidative phosphorylation (GO:0006119)2.68613947
159regulation of ubiquitin-protein transferase activity (GO:0051438)2.62971520
160positive regulation of ligase activity (GO:0051351)2.62021260
161tRNA aminoacylation for protein translation (GO:0006418)2.61885371
162telomere organization (GO:0032200)2.60763137
163desmosome organization (GO:0002934)2.57955571
164telomere maintenance (GO:0000723)2.56511927
165DNA replication-independent nucleosome organization (GO:0034724)2.56288597
166DNA replication-independent nucleosome assembly (GO:0006336)2.56288597
167G1/S transition of mitotic cell cycle (GO:0000082)2.55780729
168cell cycle G1/S phase transition (GO:0044843)2.55780729
169regulation of ligase activity (GO:0051340)2.55356468
170regulation of chromosome segregation (GO:0051983)2.54473110
171regulation of sister chromatid cohesion (GO:0007063)2.53951990
172nuclear envelope disassembly (GO:0051081)2.52062424
173membrane disassembly (GO:0030397)2.52062424
174regulation of translational fidelity (GO:0006450)2.51357285
175negative regulation of chromosome segregation (GO:0051985)2.49271435
176negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.48354261
177negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.48354261
178negative regulation of mitotic sister chromatid segregation (GO:0033048)2.48354261
179negative regulation of mitotic sister chromatid separation (GO:2000816)2.48354261
180negative regulation of sister chromatid segregation (GO:0033046)2.48354261
181pteridine-containing compound biosynthetic process (GO:0042559)2.47546696
182branched-chain amino acid catabolic process (GO:0009083)2.46955308
183pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.46734660
184AMP metabolic process (GO:0046033)2.46476080
185tRNA aminoacylation (GO:0043039)2.46291497
186amino acid activation (GO:0043038)2.46291497
187mitotic spindle checkpoint (GO:0071174)2.44995665
188signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.44730326
189intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.44730326
190histone exchange (GO:0043486)2.44373437
191base-excision repair, AP site formation (GO:0006285)2.44170252
192regulation of mitotic metaphase/anaphase transition (GO:0030071)2.43680998
193regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.43680998
194spindle checkpoint (GO:0031577)2.43475489
195mitotic sister chromatid segregation (GO:0000070)2.43447498
196signal transduction involved in DNA integrity checkpoint (GO:0072401)2.43380143

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.60578812
2E2F7_22180533_ChIP-Seq_HELA_Human6.61963711
3RXR_22158963_ChIP-Seq_LIVER_Mouse6.37743264
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.89403043
5PPARA_22158963_ChIP-Seq_LIVER_Mouse5.81609466
6* LXR_22158963_ChIP-Seq_LIVER_Mouse4.97722754
7EGR1_23403033_ChIP-Seq_LIVER_Mouse4.64966841
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse4.00997325
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.97547965
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.72706852
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.43512946
12CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.30362502
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.25885085
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.84894542
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.79428176
16CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.78449780
17* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.77795836
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.75863532
19MYC_19030024_ChIP-ChIP_MESCs_Mouse2.70147475
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.69609626
21PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.65019465
22HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.61480554
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.60652235
24ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.60500285
25NELFA_20434984_ChIP-Seq_ESCs_Mouse2.54250900
26MYC_19079543_ChIP-ChIP_MESCs_Mouse2.44965521
27DCP1A_22483619_ChIP-Seq_HELA_Human2.39040678
28TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.34148055
29GABP_17652178_ChIP-ChIP_JURKAT_Human2.25778182
30ZNF263_19887448_ChIP-Seq_K562_Human2.25118793
31* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.22915811
32ZFX_18555785_ChIP-Seq_MESCs_Mouse2.17840653
33NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.15527215
34ETS1_20019798_ChIP-Seq_JURKAT_Human2.11976828
35TP63_17297297_ChIP-ChIP_HaCaT_Human2.11903028
36CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.08839420
37EST1_17652178_ChIP-ChIP_JURKAT_Human2.01556957
38* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.95604573
39XRN2_22483619_ChIP-Seq_HELA_Human1.93219590
40E2F1_21310950_ChIP-Seq_MCF-7_Human1.89140297
41SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.87977430
42GABP_19822575_ChIP-Seq_HepG2_Human1.87965069
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.86640451
44ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.75976402
45TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.71673016
46NANOG_18555785_ChIP-Seq_MESCs_Mouse1.66840654
47KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.60112587
48SRF_21415370_ChIP-Seq_HL-1_Mouse1.59332773
49ELF1_17652178_ChIP-ChIP_JURKAT_Human1.59073426
50TTF2_22483619_ChIP-Seq_HELA_Human1.59036917
51POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.58359437
52FOXP3_21729870_ChIP-Seq_TREG_Human1.55788559
53HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.51961897
54ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.50361613
55YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.48913403
56STAT3_1855785_ChIP-Seq_MESCs_Mouse1.47315682
57PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.46563022
58CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.46516855
59FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.45868766
60* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.41758456
61HOXB4_20404135_ChIP-ChIP_EML_Mouse1.39513362
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.39491902
63ELK1_19687146_ChIP-ChIP_HELA_Human1.37216707
64DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.36434777
65MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.35039451
66RXRA_24833708_ChIP-Seq_LIVER_Mouse1.35019067
67YY1_21170310_ChIP-Seq_MESCs_Mouse1.33806944
68RBPJ_22232070_ChIP-Seq_NCS_Mouse1.33376912
69* VDR_23849224_ChIP-Seq_CD4+_Human1.32737089
70* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.31145411
71POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.30858049
72KAP1_22055183_ChIP-Seq_ESCs_Mouse1.28878358
73TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28634878
74HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.27726754
75TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.26430093
76* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.25642928
77CHD1_26751641_Chip-Seq_LNCaP_Human1.24299005
78KDM5A_27292631_Chip-Seq_BREAST_Human1.22748132
79EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.22507846
80CLOCK_20551151_ChIP-Seq_293T_Human1.21852697
81TBX20_22328084_ChIP-Seq_HEART_Mouse1.20721548
82TBX20_22080862_ChIP-Seq_HEART_Mouse1.20721548
83PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.19311416
84* FOXA2_19822575_ChIP-Seq_HepG2_Human1.19112043
85TFEB_21752829_ChIP-Seq_HELA_Human1.18283761
86* HNF4A_19822575_ChIP-Seq_HepG2_Human1.17852161
87SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.17466840
88AUTS2_25519132_ChIP-Seq_293T-REX_Human1.16368816
89TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.15707710
90DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.15288030
91PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.11143745
92SOX17_20123909_ChIP-Seq_XEN_Mouse1.10106880
93CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.09911872
94BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.09149819
95* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.08334585
96TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.07638549
97P53_21459846_ChIP-Seq_SAOS-2_Human1.07494576
98CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.06445738
99* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.04806748
100ERG_20517297_ChIP-Seq_VCAP_Human1.04379414
101TBX5_21415370_ChIP-Seq_HL-1_Mouse1.04333898
102KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.04305625
103ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.04051964
104FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03757486
105* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.03719767
106HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.02656847
107NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.01824826
108RARA_24833708_ChIP-Seq_LIVER_Mouse1.00274193
109STAT1_17558387_ChIP-Seq_HELA_Human0.99903603
110STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.99842866
111SOX2_18555785_ChIP-Seq_MESCs_Mouse0.98948239
112EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.97702381
113POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.97208573
114SOX2_22085726_ChIP-Seq_NPCs_Mouse0.95877683
115KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.95595378
116NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.94472358
117SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.94153480
118ZNF274_21170338_ChIP-Seq_K562_Hela0.93423330
119CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.92274773
120ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.92038624
121EP300_21415370_ChIP-Seq_HL-1_Mouse0.91774433
122ATF3_27146783_Chip-Seq_COLON_Human0.91189535
123* AR_21909140_ChIP-Seq_LNCAP_Human0.90759278
124LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.90690324
125RAD21_21589869_ChIP-Seq_MESCs_Mouse0.89698601
126E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.88868097
127NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.88003504
128* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.87979564
129CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.87941093
130SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.86525450
131ESET_19884257_ChIP-Seq_ESCs_Mouse0.85260540
132WDR5_24793694_ChIP-Seq_LNCAP_Human0.83652656
133EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.83066242
134SOX2_21211035_ChIP-Seq_LN229_Human0.81203746
135SPI1_26923725_Chip-Seq_HPCs_Mouse0.80528888
136BCOR_27268052_Chip-Seq_Bcells_Human0.80028158
137SPI1_20517297_ChIP-Seq_HL60_Human0.78918721
138RARB_24833708_ChIP-Seq_LIVER_Mouse0.78122490
139HTT_18923047_ChIP-ChIP_STHdh_Human0.77761434
140GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.76508150
141ELF1_20517297_ChIP-Seq_JURKAT_Human0.76040291
142CBP_20019798_ChIP-Seq_JUKART_Human0.75903298
143IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.75903298
144EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.75531948
145TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.75386211
146TET1_21451524_ChIP-Seq_MESCs_Mouse0.75216741
147CEBPB_22108803_ChIP-Seq_LS180_Human0.74320976
148* GATA3_21867929_ChIP-Seq_CD8_Mouse0.74172872
149FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.73765078
150SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.72227627
151YY1_22570637_ChIP-Seq_MALME-3M_Human0.72065053
152SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.71726229
153RAC3_21632823_ChIP-Seq_H3396_Human0.70166111
154BCL6_27268052_Chip-Seq_Bcells_Human0.69321811
155PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.69249007
156PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.68201881
157MYC_27129775_Chip-Seq_CORNEA_Mouse0.67226849
158GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.65442226
159GATA3_21867929_ChIP-Seq_TH1_Mouse0.65023252
160BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.64837523
161* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.64548444
162GATA3_26560356_Chip-Seq_TH1_Human0.64236468
163PHF8_20622854_ChIP-Seq_HELA_Human0.63995659
164KLF4_18555785_ChIP-Seq_MESCs_Mouse0.63728941
165P68_20966046_ChIP-Seq_HELA_Human0.63666753
166CTCF_26484167_Chip-Seq_Bcells_Mouse0.62713327
167FOXM1_23109430_ChIP-Seq_U2OS_Human0.62566176
168SOX2_27498859_Chip-Seq_STOMACH_Mouse0.61859047
169SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.61363153
170ELK4_26923725_Chip-Seq_MESODERM_Mouse0.61060982
171PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.60709483
172FLI1_21867929_ChIP-Seq_CD8_Mouse0.60237839
173P300_27268052_Chip-Seq_Bcells_Human0.60005159
174SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.59926256
175OCT4_20526341_ChIP-Seq_ESCs_Human0.58693769
176NANOG_20526341_ChIP-Seq_ESCs_Human0.58040059
177AR_20517297_ChIP-Seq_VCAP_Human0.57498090
178RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.57439178
179NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.57422090
180* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.57411275
181E2F1_20622854_ChIP-Seq_HELA_Human0.57251654

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.32360213
2MP0005360_urolithiasis5.90819818
3MP0005085_abnormal_gallbladder_physiolo4.94427523
4MP0005365_abnormal_bile_salt4.88584629
5MP0003806_abnormal_nucleotide_metabolis4.11207987
6MP0005410_abnormal_fertilization4.02712085
7MP0003646_muscle_fatigue3.90376238
8MP0008875_abnormal_xenobiotic_pharmacok3.88804747
9MP0010234_abnormal_vibrissa_follicle3.60185286
10MP0010094_abnormal_chromosome_stability3.36134365
11MP0002837_dystrophic_cardiac_calcinosis3.28116738
12MP0003693_abnormal_embryo_hatching3.24097453
13MP0004957_abnormal_blastocyst_morpholog3.22531951
14MP0003111_abnormal_nucleus_morphology2.98997122
15MP0003252_abnormal_bile_duct2.88373083
16MP0010329_abnormal_lipoprotein_level2.85042351
17MP0003941_abnormal_skin_development2.83683794
18MP0003077_abnormal_cell_cycle2.72143460
19MP0008058_abnormal_DNA_repair2.70372599
20MP0008932_abnormal_embryonic_tissue2.50952827
21MP0005332_abnormal_amino_acid2.48233241
22MP0002796_impaired_skin_barrier2.38034763
23MP0009840_abnormal_foam_cell2.33124777
24MP0006036_abnormal_mitochondrial_physio2.20706033
25MP0005083_abnormal_biliary_tract2.18729356
26MP0010352_gastrointestinal_tract_polyps2.16043372
27MP0004130_abnormal_muscle_cell2.07081151
28MP0010030_abnormal_orbit_morphology1.93961686
29MP0002877_abnormal_melanocyte_morpholog1.92978878
30MP0008057_abnormal_DNA_replication1.91712449
31MP0005501_abnormal_skin_physiology1.88194398
32MP0005670_abnormal_white_adipose1.87196443
33MP0000609_abnormal_liver_physiology1.83671531
34MP0002118_abnormal_lipid_homeostasis1.82649347
35MP0001666_abnormal_nutrient_absorption1.81080657
36MP0005319_abnormal_enzyme/_coenzyme1.79967750
37MP0008789_abnormal_olfactory_epithelium1.79709231
38MP0004084_abnormal_cardiac_muscle1.79226801
39MP0004036_abnormal_muscle_relaxation1.77497743
40MP0003195_calcinosis1.75910683
41MP0001730_embryonic_growth_arrest1.75606293
42MP0008007_abnormal_cellular_replicative1.74590328
43MP0004264_abnormal_extraembryonic_tissu1.73893268
44MP0004215_abnormal_myocardial_fiber1.67229618
45MP0005408_hypopigmentation1.65605811
46MP0005451_abnormal_body_composition1.64550890
47MP0005330_cardiomyopathy1.62472512
48MP0001929_abnormal_gametogenesis1.58814855
49MP0005666_abnormal_adipose_tissue1.57826782
50MP0002269_muscular_atrophy1.55930800
51MP0000350_abnormal_cell_proliferation1.53705707
52MP0003191_abnormal_cellular_cholesterol1.50664462
53MP0000751_myopathy1.50545544
54MP0003698_abnormal_male_reproductive1.49919537
55MP0005584_abnormal_enzyme/coenzyme_acti1.49193405
56MP0004272_abnormal_basement_membrane1.45375062
57MP0006035_abnormal_mitochondrial_morpho1.45012830
58MP0004019_abnormal_vitamin_homeostasis1.44140624
59MP0003786_premature_aging1.44119196
60MP0003566_abnormal_cell_adhesion1.43587143
61MP0001672_abnormal_embryogenesis/_devel1.38179789
62MP0005380_embryogenesis_phenotype1.38179789
63MP0001764_abnormal_homeostasis1.37395548
64MP0000749_muscle_degeneration1.34974235
65MP0004087_abnormal_muscle_fiber1.33383884
66MP0003221_abnormal_cardiomyocyte_apopto1.33043997
67MP0002098_abnormal_vibrissa_morphology1.31564855
68MP0000579_abnormal_nail_morphology1.31486300
69MP0005257_abnormal_intraocular_pressure1.31230087
70MP0002080_prenatal_lethality1.28959543
71MP0002971_abnormal_brown_adipose1.28652237
72MP0003705_abnormal_hypodermis_morpholog1.26973514
73MP0005623_abnormal_meninges_morphology1.26316310
74MP0000762_abnormal_tongue_morphology1.22692249
75MP0010678_abnormal_skin_adnexa1.21997839
76MP0003656_abnormal_erythrocyte_physiolo1.21194316
77MP0003315_abnormal_perineum_morphology1.18289062
78MP0002084_abnormal_developmental_patter1.17353160
79MP0002160_abnormal_reproductive_system1.17065181
80MP0009643_abnormal_urine_homeostasis1.16919921
81MP0003186_abnormal_redox_activity1.16916565
82MP0005266_abnormal_metabolism1.16218323
83MP0001849_ear_inflammation1.16111744
84MP0003868_abnormal_feces_composition1.15702880
85MP0001216_abnormal_epidermal_layer1.15357997
86MP0003984_embryonic_growth_retardation1.13894921
87MP0004233_abnormal_muscle_weight1.13152926
88MP0002060_abnormal_skin_morphology1.12853422
89MP0001697_abnormal_embryo_size1.11367415
90MP0002138_abnormal_hepatobiliary_system1.10966426
91MP0002085_abnormal_embryonic_tissue1.09861913
92MP0000566_synostosis1.09003316
93MP0005636_abnormal_mineral_homeostasis1.07642039
94MP0002088_abnormal_embryonic_growth/wei1.06235897
95MP0001661_extended_life_span1.06020949
96MP0000467_abnormal_esophagus_morphology1.04823752
97MP0005058_abnormal_lysosome_morphology1.04671144
98MP0002132_abnormal_respiratory_system1.03010458
99MP0000537_abnormal_urethra_morphology1.02608067
100MP0001881_abnormal_mammary_gland1.02446250
101MP0000490_abnormal_crypts_of1.02143884
102MP0000627_abnormal_mammary_gland1.01029118
103MP0000313_abnormal_cell_death1.00797434
104MP0008775_abnormal_heart_ventricle1.00156669
105MP0000598_abnormal_liver_morphology1.00066853
106MP0010630_abnormal_cardiac_muscle0.99513963
107MP0002161_abnormal_fertility/fecundity0.99425544
108MP0002078_abnormal_glucose_homeostasis0.98332855
109MP0005620_abnormal_muscle_contractility0.98184569
110MP0010307_abnormal_tumor_latency0.97544073
111MP0005394_taste/olfaction_phenotype0.96871480
112MP0005499_abnormal_olfactory_system0.96871480
113MP0005385_cardiovascular_system_phenoty0.95688566
114MP0001544_abnormal_cardiovascular_syste0.95688566
115MP0005647_abnormal_sex_gland0.93512283
116MP0004185_abnormal_adipocyte_glucose0.93449486
117MP0003453_abnormal_keratinocyte_physiol0.93333266
118MP0000377_abnormal_hair_follicle0.92447928
119MP0000747_muscle_weakness0.91974555
120MP0006138_congestive_heart_failure0.90513748
121MP0002972_abnormal_cardiac_muscle0.89687900
122MP0005535_abnormal_body_temperature0.89025476
123MP0002106_abnormal_muscle_physiology0.88881545
124MP0000015_abnormal_ear_pigmentation0.88558550
125MP0003329_amyloid_beta_deposits0.86983283
126MP0004145_abnormal_muscle_electrophysio0.86489147
127MP0000604_amyloidosis0.85458938
128MP0001727_abnormal_embryo_implantation0.85125722
129MP0009697_abnormal_copulation0.84299897
130MP0000383_abnormal_hair_follicle0.82494002
131MP0005395_other_phenotype0.82287526
132MP0002210_abnormal_sex_determination0.82167236
133MP0004197_abnormal_fetal_growth/weight/0.80328254
134MP0002086_abnormal_extraembryonic_tissu0.80008560
135MP0002233_abnormal_nose_morphology0.79677017
136MP0005275_abnormal_skin_tensile0.78920314
137MP0004782_abnormal_surfactant_physiolog0.77989807
138MP0010771_integument_phenotype0.77811286
139MP0002009_preneoplasia0.76674228
140MP0005376_homeostasis/metabolism_phenot0.76197553
141MP0002938_white_spotting0.75545790
142MP0009703_decreased_birth_body0.75260416
143MP0005384_cellular_phenotype0.75040697
144MP0000653_abnormal_sex_gland0.74630044
145MP0001145_abnormal_male_reproductive0.74432426
146MP0009642_abnormal_blood_homeostasis0.74184153
147MP0008260_abnormal_autophagy0.74037970
148MP0001765_abnormal_ion_homeostasis0.73655438
149MP0005248_abnormal_Harderian_gland0.73155891
150MP0003011_delayed_dark_adaptation0.72548794
151MP0003137_abnormal_impulse_conducting0.71894986
152MP0002111_abnormal_tail_morphology0.70869469
153MP0005334_abnormal_fat_pad0.70631898
154MP0009763_increased_sensitivity_to0.70422921
155MP0005375_adipose_tissue_phenotype0.70345892
156MP0005187_abnormal_penis_morphology0.69467754
157MP0004484_altered_response_of0.67875910
158MP0005171_absent_coat_pigmentation0.67341033
159MP0000759_abnormal_skeletal_muscle0.67155503
160MP0002282_abnormal_trachea_morphology0.65749879
161MP0001346_abnormal_lacrimal_gland0.65638068
162MP0000750_abnormal_muscle_regeneration0.65613884
163MP0005621_abnormal_cell_physiology0.65574596
164MP0002970_abnormal_white_adipose0.62830104
165MP0004043_abnormal_pH_regulation0.62100420
166MP0001756_abnormal_urination0.61215295
167MP0002332_abnormal_exercise_endurance0.60967858
168MP0004085_abnormal_heartbeat0.60478314
169MP0010368_abnormal_lymphatic_system0.60210912
170MP0009672_abnormal_birth_weight0.58266855
171MP0003718_maternal_effect0.57399913
172MP0005369_muscle_phenotype0.57253467
173MP0002127_abnormal_cardiovascular_syste0.56066473
174MP0000358_abnormal_cell_content/0.55732578
175MP0009115_abnormal_fat_cell0.55243390
176MP0008877_abnormal_DNA_methylation0.54514436
177MP0002653_abnormal_ependyma_morphology0.52724004
178MP0008469_abnormal_protein_level0.49800383
179MP0003953_abnormal_hormone_level0.47824148

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.05992170
2Deep venous thrombosis (HP:0002625)4.99143855
3Abnormality of aromatic amino acid family metabolism (HP:0004338)4.82100701
4Intrahepatic cholestasis (HP:0001406)4.66962463
5Ketosis (HP:0001946)4.60954121
6Hyperammonemia (HP:0001987)4.57211189
7Hypoglycemic coma (HP:0001325)4.38702201
8Hypobetalipoproteinemia (HP:0003563)4.35196986
9Myoglobinuria (HP:0002913)4.32150221
10Abnormality of monocarboxylic acid metabolism (HP:0010996)4.27853658
11Hyperglycinuria (HP:0003108)4.18266505
12Xanthomatosis (HP:0000991)4.07871676
13Absent/shortened dynein arms (HP:0200106)3.95668910
14Dynein arm defect of respiratory motile cilia (HP:0012255)3.95668910
15Ketoacidosis (HP:0001993)3.95132738
16Abnormality of fatty-acid metabolism (HP:0004359)3.91604019
17Hyperglycinemia (HP:0002154)3.89622977
18Abnormality of glycine metabolism (HP:0010895)3.88361733
19Abnormality of serine family amino acid metabolism (HP:0010894)3.88361733
20Hypolipoproteinemia (HP:0010981)3.77304894
21Rhabdomyolysis (HP:0003201)3.75744320
22Hyperlipoproteinemia (HP:0010980)3.70159239
23Hypoalphalipoproteinemia (HP:0003233)3.68935319
24Prolonged partial thromboplastin time (HP:0003645)3.67025688
25Abnormality of dicarboxylic acid metabolism (HP:0010995)3.57122167
26Dicarboxylic aciduria (HP:0003215)3.57122167
27Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.53542195
28Exercise-induced myalgia (HP:0003738)3.50462930
29Bronchiectasis (HP:0002110)3.31839270
30Abnormal respiratory motile cilium physiology (HP:0012261)3.31362600
31Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.31143616
32Exercise-induced muscle cramps (HP:0003710)3.23942739
33Chronic bronchitis (HP:0004469)3.13927222
34Complement deficiency (HP:0004431)3.11110418
35Cerebral edema (HP:0002181)3.07851335
36Abnormality of aspartate family amino acid metabolism (HP:0010899)3.07311730
37Microvesicular hepatic steatosis (HP:0001414)3.06759478
38Pili torti (HP:0003777)2.97092124
39Abnormality of serum amino acid levels (HP:0003112)2.97011274
40Abnormality of sulfur amino acid metabolism (HP:0004339)2.93491477
41Progressive muscle weakness (HP:0003323)2.92295646
42Abnormality of glutamine family amino acid metabolism (HP:0010902)2.85239992
43Abnormality of methionine metabolism (HP:0010901)2.80986838
44Epidermoid cyst (HP:0200040)2.79975396
45Metabolic acidosis (HP:0001942)2.79793532
46Abnormal gallbladder physiology (HP:0012438)2.78789027
47Cholecystitis (HP:0001082)2.78789027
48Lethargy (HP:0001254)2.78609659
49Gout (HP:0001997)2.77784188
50Infertility (HP:0000789)2.76558088
51Reduced antithrombin III activity (HP:0001976)2.76129156
52Rhinitis (HP:0012384)2.73171205
53Sudden death (HP:0001699)2.72178011
54Right ventricular cardiomyopathy (HP:0011663)2.70921524
55Hypercholesterolemia (HP:0003124)2.70798752
56Nasal polyposis (HP:0100582)2.68839284
57Abnormal respiratory motile cilium morphology (HP:0005938)2.64711504
58Abnormal respiratory epithelium morphology (HP:0012253)2.64711504
59Type I transferrin isoform profile (HP:0003642)2.61556294
60Hyperbilirubinemia (HP:0002904)2.56762500
61Generalized aminoaciduria (HP:0002909)2.54734193
62Ragged-red muscle fibers (HP:0003200)2.54468899
63Increased muscle lipid content (HP:0009058)2.51970249
64Onycholysis (HP:0001806)2.50860150
65Hepatic necrosis (HP:0002605)2.50637137
66Delayed CNS myelination (HP:0002188)2.44801558
67Abnormality of the umbilical cord (HP:0010881)2.44654135
68Abnormality of the common coagulation pathway (HP:0010990)2.44303068
69Abnormality of pyrimidine metabolism (HP:0004353)2.43515230
70Abnormality of nucleobase metabolism (HP:0010932)2.42940650
71Abnormality of purine metabolism (HP:0004352)2.42653360
72Cholelithiasis (HP:0001081)2.42315052
73Hyperinsulinemic hypoglycemia (HP:0000825)2.39129936
74Abnormality of the nasal mucosa (HP:0000433)2.32175413
75Acute encephalopathy (HP:0006846)2.31907100
76Abnormal ciliary motility (HP:0012262)2.30080074
77Multiple enchondromatosis (HP:0005701)2.29551511
78Proximal tubulopathy (HP:0000114)2.29032864
79Late onset (HP:0003584)2.28771523
80Male infertility (HP:0003251)2.28461188
81Ventricular tachycardia (HP:0004756)2.27571108
82Selective tooth agenesis (HP:0001592)2.25382450
83Abnormal gallbladder morphology (HP:0012437)2.25125496
84Abnormality of the intrinsic pathway (HP:0010989)2.24714667
85Fat malabsorption (HP:0002630)2.24044358
86Abnormal umbilical cord blood vessels (HP:0011403)2.22452503
87Single umbilical artery (HP:0001195)2.22452503
88Abnormality of the fetal cardiovascular system (HP:0010948)2.22452503
89Asymmetric septal hypertrophy (HP:0001670)2.22015332
90Sparse eyelashes (HP:0000653)2.21119199
91Rough bone trabeculation (HP:0100670)2.20298899
92Vomiting (HP:0002013)2.20144433
93Abnormality of complement system (HP:0005339)2.16833527
94Abnormalities of placenta or umbilical cord (HP:0001194)2.16796040
95Hyporeflexia of lower limbs (HP:0002600)2.14891748
96Hyperuricemia (HP:0002149)2.14197938
97Increased purine levels (HP:0004368)2.14197938
98Joint hemorrhage (HP:0005261)2.12870462
99Palpitations (HP:0001962)2.11204920
100Abnormality of the distal phalanges of the toes (HP:0010182)2.09465472
101Nausea (HP:0002018)2.08289765
102Lactic acidosis (HP:0003128)2.08272381
103Aplasia/Hypoplasia of the sacrum (HP:0008517)2.08237915
104Malnutrition (HP:0004395)2.07721200
105Distal lower limb muscle weakness (HP:0009053)2.07608722
106Trismus (HP:0000211)2.05740877
107Chromsome breakage (HP:0040012)2.03951583
108Abnormality of glycolysis (HP:0004366)2.03883682
109Increased serum pyruvate (HP:0003542)2.03883682
110Hepatocellular carcinoma (HP:0001402)2.03311017
111Spinal cord compression (HP:0002176)2.03288315
112Limb-girdle muscle atrophy (HP:0003797)2.02802488
113Facial cleft (HP:0002006)2.01875604
114Exercise intolerance (HP:0003546)2.01580016
115Generalized amyotrophy (HP:0003700)2.01129474
116Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.99846904
117Decreased activity of mitochondrial respiratory chain (HP:0008972)1.99846904
118Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.99473229
119Abnormal protein N-linked glycosylation (HP:0012347)1.99473229
120Abnormal protein glycosylation (HP:0012346)1.99473229
121Abnormal glycosylation (HP:0012345)1.99473229
122Abnormality of alanine metabolism (HP:0010916)1.98584070
123Hyperalaninemia (HP:0003348)1.98584070
124Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.98584070
125Calf muscle hypertrophy (HP:0008981)1.96885711
126Abnormality of the salivary glands (HP:0010286)1.96418238
127Ependymoma (HP:0002888)1.96128043
128Spontaneous abortion (HP:0005268)1.95887864
129Skin nodule (HP:0200036)1.95031502
130Increased intramyocellular lipid droplets (HP:0012240)1.94888570
131Bile duct proliferation (HP:0001408)1.94614102
132Abnormal biliary tract physiology (HP:0012439)1.94614102
133Testicular atrophy (HP:0000029)1.93987448
134Bronchitis (HP:0012387)1.93619507
135Spastic diplegia (HP:0001264)1.93367490
136Short nail (HP:0001799)1.92963867
137Abnormal hair laboratory examination (HP:0003328)1.91375689
138Hypoplasia of the capital femoral epiphysis (HP:0003090)1.86771557
139Chromosomal breakage induced by crosslinking agents (HP:0003221)1.85524448
140Back pain (HP:0003418)1.84597674
141Abnormal mitochondria in muscle tissue (HP:0008316)1.76633380
142Abnormal trabecular bone morphology (HP:0100671)1.75333970
143Occipital encephalocele (HP:0002085)1.71479839
144Recurrent otitis media (HP:0000403)1.70936333
145Pterygium (HP:0001059)1.70571372
146Carpal bone hypoplasia (HP:0001498)1.69853985
147Acute necrotizing encephalopathy (HP:0006965)1.68565377
148Atelectasis (HP:0100750)1.68096848
149Rhabdomyosarcoma (HP:0002859)1.66838578
150Conjunctival hamartoma (HP:0100780)1.65700367
151Microglossia (HP:0000171)1.64317585
152Centrally nucleated skeletal muscle fibers (HP:0003687)1.63221713
153Progressive external ophthalmoplegia (HP:0000590)1.62454033
154Medulloblastoma (HP:0002885)1.58567817
155Breech presentation (HP:0001623)1.56026647
156Osteolytic defects of the phalanges of the hand (HP:0009771)1.55699063
157Osteolytic defects of the hand bones (HP:0009699)1.55699063
158Birth length less than 3rd percentile (HP:0003561)1.55021951
159Amniotic constriction ring (HP:0009775)1.54869143
160Abnormality of placental membranes (HP:0011409)1.54869143
161Congenital ichthyosiform erythroderma (HP:0007431)1.54640995
162Shoulder girdle muscle weakness (HP:0003547)1.54284485
163Premature ovarian failure (HP:0008209)1.53976731

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK36.67185772
2PDK46.67185772
3BCKDK4.47809671
4PBK3.80407005
5MST43.73917997
6BUB13.72359600
7PDK23.70529674
8PKN23.26063532
9TRIB33.03398282
10NME22.73464843
11SRPK12.68739708
12PRKD32.67253113
13EPHA22.46697366
14VRK22.35191793
15EEF2K2.27814344
16TSSK62.26599351
17TESK12.08907812
18TTN2.01671626
19ICK1.99202566
20STK161.97174660
21SMG11.96206202
22NEK11.88150707
23MAP2K41.83282761
24MAP3K61.64687353
25PLK41.60188222
26OBSCN1.59845526
27FLT31.57127422
28PINK11.53797537
29MST1R1.50792649
30MAPKAPK31.47016399
31SIK11.42576191
32LMTK21.42021195
33EIF2AK31.38751667
34PLK11.38303734
35ZAK1.33658118
36MAP2K31.32890815
37BRSK21.32257103
38WNK41.24318946
39ARAF1.22690821
40CDK71.20649163
41CDK121.19985437
42VRK11.17451226
43PHKG11.15121875
44PHKG21.15121875
45PTK2B1.13399986
46AURKB1.10992403
47FGFR41.10866660
48PLK31.09204577
49ERN11.07960706
50LATS11.07105600
51PNCK1.02785829
52STK381.02512952
53NME11.02371187
54WEE11.01130385
55KSR20.96866126
56MAPK110.96829026
57ERBB40.95028808
58STK100.92864934
59STK38L0.92218868
60CSNK1G30.91852973
61CHEK20.91835826
62MAP3K50.89088448
63NEK20.88807616
64PIM20.88799239
65MYLK0.88409942
66CCNB10.87090880
67MET0.86954520
68PRKAA10.86456224
69TTK0.86100808
70PDK10.85699653
71MAP2K60.85322479
72MAP3K40.84314355
73BRSK10.82140021
74ATR0.80822251
75CSNK1G10.80322063
76KDR0.80048292
77MAP3K100.78655846
78PRKAA20.78509089
79LATS20.76343677
80TAF10.76265950
81CSNK1A1L0.76113267
82DYRK1B0.75973035
83NEK90.73929336
84STK390.73053548
85MAP3K70.72862420
86CDK80.72120706
87MAP3K110.71011527
88MELK0.69543859
89SCYL20.69388705
90CHEK10.69283649
91STK40.69239562
92DMPK0.67595873
93PRKCI0.67079005
94CDC70.66745258
95CDK40.65479538
96CLK10.65069529
97MKNK10.63682051
98NEK60.63393536
99MAPK120.59505375
100PTK20.59311110
101ABL20.58120551
102DYRK30.57796959
103PDPK10.57478837
104CDK90.57131950
105INSRR0.55847651
106MAP3K120.55781337
107RET0.53778722
108ATM0.52737809
109TAOK30.52552912
110CSNK1G20.50052101
111FER0.48002838
112PIK3CG0.45797995
113LIMK10.45537962
114PAK20.45327523
115ILK0.44931616
116PTK60.44823772
117RAF10.44333938
118RIPK10.42655751
119MAPK150.42015004
120CSNK2A10.40621684
121STK30.40056127
122TAOK10.39569188
123PAK10.39307484
124RPS6KA50.37553074
125STK240.37437931
126CSNK2A20.36900215
127MUSK0.35980383
128PRKACG0.35917886
129MAPKAPK50.33854557
130JAK20.32607374
131LRRK20.30904486
132GRK60.30675819
133MTOR0.30144374
134TESK20.30003364
135EIF2AK10.29751738
136FRK0.27055901
137MAP3K10.26834850
138PAK60.26740391
139MAP3K80.26287829
140WNK30.26154746
141TIE10.25435513
142PAK30.24835626
143BRAF0.24460575
144MAP2K10.22645014
145MAPK40.21815830
146CDK60.21339745
147RPS6KB20.20790159
148RPS6KA10.20004209
149AKT20.19403405
150AURKA0.19357211
151MAP3K90.16354872
152RPS6KA40.15124613
153CAMK2G0.14553892
154PAK40.14004943
155PRKCZ0.13950741
156TYK20.12968870
157CAMKK10.12435647

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.02263640
2Mismatch repair_Homo sapiens_hsa034303.56635717
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.46278258
4Propanoate metabolism_Homo sapiens_hsa006403.45227088
5Proteasome_Homo sapiens_hsa030503.38434330
6Primary bile acid biosynthesis_Homo sapiens_hsa001203.29962569
7Fatty acid degradation_Homo sapiens_hsa000713.28443162
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.05484658
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.94282700
10Nitrogen metabolism_Homo sapiens_hsa009102.81096600
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.79226925
122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.72072736
13Base excision repair_Homo sapiens_hsa034102.69108927
14Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.65563025
15Pyruvate metabolism_Homo sapiens_hsa006202.59113685
16Arginine biosynthesis_Homo sapiens_hsa002202.55892663
17Fatty acid metabolism_Homo sapiens_hsa012122.45389248
18Tryptophan metabolism_Homo sapiens_hsa003802.32054863
19Carbon metabolism_Homo sapiens_hsa012002.28160073
20Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.18782822
21Butanoate metabolism_Homo sapiens_hsa006502.17778261
22Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.17458081
23Non-homologous end-joining_Homo sapiens_hsa034502.15801379
24Nucleotide excision repair_Homo sapiens_hsa034202.14567944
25PPAR signaling pathway_Homo sapiens_hsa033202.12892141
26Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.04070183
27Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.88583009
28Peroxisome_Homo sapiens_hsa041461.86313325
29Biosynthesis of amino acids_Homo sapiens_hsa012301.78191043
30Selenocompound metabolism_Homo sapiens_hsa004501.72774957
31Pentose and glucuronate interconversions_Homo sapiens_hsa000401.70010934
32Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.64608384
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.63597385
34RNA polymerase_Homo sapiens_hsa030201.63069812
35Complement and coagulation cascades_Homo sapiens_hsa046101.62875738
36RNA transport_Homo sapiens_hsa030131.62297373
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.62144480
38Cell cycle_Homo sapiens_hsa041101.61652592
39Spliceosome_Homo sapiens_hsa030401.58516776
40beta-Alanine metabolism_Homo sapiens_hsa004101.57103002
41Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.56420479
42Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.55528149
43Homologous recombination_Homo sapiens_hsa034401.48807755
44Fanconi anemia pathway_Homo sapiens_hsa034601.46124866
45Chemical carcinogenesis_Homo sapiens_hsa052041.44218279
46Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.43254007
47Ribosome_Homo sapiens_hsa030101.38428813
48Fatty acid biosynthesis_Homo sapiens_hsa000611.35715437
49Bile secretion_Homo sapiens_hsa049761.25882779
50Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.25582213
51Vitamin B6 metabolism_Homo sapiens_hsa007501.24874790
52Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24503307
53Starch and sucrose metabolism_Homo sapiens_hsa005001.24150303
54Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.23808629
55Drug metabolism - other enzymes_Homo sapiens_hsa009831.22567196
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.18154041
57Fat digestion and absorption_Homo sapiens_hsa049751.18052661
58Caffeine metabolism_Homo sapiens_hsa002321.14180479
59Phenylalanine metabolism_Homo sapiens_hsa003601.13552802
60Pentose phosphate pathway_Homo sapiens_hsa000301.10625817
61Histidine metabolism_Homo sapiens_hsa003401.08881137
62Fatty acid elongation_Homo sapiens_hsa000621.04123646
63Glycerolipid metabolism_Homo sapiens_hsa005610.99986618
64Steroid hormone biosynthesis_Homo sapiens_hsa001400.99939777
65Protein export_Homo sapiens_hsa030600.99772051
66Retinol metabolism_Homo sapiens_hsa008300.98222054
67Tyrosine metabolism_Homo sapiens_hsa003500.93746657
68Glucagon signaling pathway_Homo sapiens_hsa049220.93624075
69Lysine degradation_Homo sapiens_hsa003100.91456236
70mRNA surveillance pathway_Homo sapiens_hsa030150.90815580
71Arginine and proline metabolism_Homo sapiens_hsa003300.90452424
72N-Glycan biosynthesis_Homo sapiens_hsa005100.87225691
73Cyanoamino acid metabolism_Homo sapiens_hsa004600.86059457
74ABC transporters_Homo sapiens_hsa020100.84367325
75Glutathione metabolism_Homo sapiens_hsa004800.83624735
76Sulfur metabolism_Homo sapiens_hsa009200.80166061
77RNA degradation_Homo sapiens_hsa030180.77223197
78Sulfur relay system_Homo sapiens_hsa041220.76564939
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.76192652
80Folate biosynthesis_Homo sapiens_hsa007900.73185235
81p53 signaling pathway_Homo sapiens_hsa041150.72034054
82Basal transcription factors_Homo sapiens_hsa030220.69711564
83Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.68530555
84Cardiac muscle contraction_Homo sapiens_hsa042600.68450341
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67193684
86Staphylococcus aureus infection_Homo sapiens_hsa051500.63911871
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63535408
88Fructose and mannose metabolism_Homo sapiens_hsa000510.62481176
89Thyroid cancer_Homo sapiens_hsa052160.62267617
90Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.61814927
91One carbon pool by folate_Homo sapiens_hsa006700.61213113
92Adipocytokine signaling pathway_Homo sapiens_hsa049200.58194398
93Metabolic pathways_Homo sapiens_hsa011000.57126404
94Insulin resistance_Homo sapiens_hsa049310.53886852
95Parkinsons disease_Homo sapiens_hsa050120.49292846
96Vibrio cholerae infection_Homo sapiens_hsa051100.48417138
97Huntingtons disease_Homo sapiens_hsa050160.47855570
98Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.47727438
99Oxidative phosphorylation_Homo sapiens_hsa001900.44207185
100alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.43802918
101AMPK signaling pathway_Homo sapiens_hsa041520.43264381
102Sphingolipid metabolism_Homo sapiens_hsa006000.43231918
103Tight junction_Homo sapiens_hsa045300.42103237
104Galactose metabolism_Homo sapiens_hsa000520.39267983
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.38296921
106Adherens junction_Homo sapiens_hsa045200.37890205
107Small cell lung cancer_Homo sapiens_hsa052220.37185856
108Linoleic acid metabolism_Homo sapiens_hsa005910.34893402
109Maturity onset diabetes of the young_Homo sapiens_hsa049500.32537807
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.30894287
111Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30252042
112Insulin signaling pathway_Homo sapiens_hsa049100.29649139
113Alzheimers disease_Homo sapiens_hsa050100.28169009
114Viral carcinogenesis_Homo sapiens_hsa052030.27027638
115Hippo signaling pathway_Homo sapiens_hsa043900.25779573
116Vitamin digestion and absorption_Homo sapiens_hsa049770.24926964
117Epstein-Barr virus infection_Homo sapiens_hsa051690.23553413
118Lysosome_Homo sapiens_hsa041420.22150936
119Bladder cancer_Homo sapiens_hsa052190.21672270
120Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.21119175
121TGF-beta signaling pathway_Homo sapiens_hsa043500.20894213
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.20326094
123Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.13817816
124Carbohydrate digestion and absorption_Homo sapiens_hsa049730.10169328
125Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.08796815
126Circadian rhythm_Homo sapiens_hsa047100.05147063
127Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.02013800
128Prion diseases_Homo sapiens_hsa05020-0.1096767
129Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014-0.1004117
130Steroid biosynthesis_Homo sapiens_hsa00100-0.0840307
131Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0822556
132Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261-0.0608706
133Oocyte meiosis_Homo sapiens_hsa04114-0.0563421
134Purine metabolism_Homo sapiens_hsa00230-0.0539923
135Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0470095
136Pyrimidine metabolism_Homo sapiens_hsa00240-0.0384931
137Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970-0.0292463
138Dilated cardiomyopathy_Homo sapiens_hsa05414-0.0256663

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