NUBPL

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





Description: This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1branching involved in labyrinthine layer morphogenesis (GO:0060670)4.70010952
2response to lipoprotein particle (GO:0055094)4.53942579
3DNA deamination (GO:0045006)4.35814999
4synapsis (GO:0007129)4.19451383
5behavioral response to nicotine (GO:0035095)4.17410199
6polyketide metabolic process (GO:0030638)4.16914212
7doxorubicin metabolic process (GO:0044598)4.16914212
8daunorubicin metabolic process (GO:0044597)4.16914212
9DNA strand elongation involved in DNA replication (GO:0006271)4.02238737
10telomere maintenance via semi-conservative replication (GO:0032201)4.02063873
11mitotic metaphase plate congression (GO:0007080)4.00013127
12DNA strand elongation (GO:0022616)3.89961204
13DNA replication initiation (GO:0006270)3.89202772
14regulation of sequestering of triglyceride (GO:0010889)3.86782475
15spindle assembly involved in mitosis (GO:0090307)3.86158545
16purine nucleobase biosynthetic process (GO:0009113)3.86046472
17CENP-A containing nucleosome assembly (GO:0034080)3.85780028
18negative regulation of telomerase activity (GO:0051974)3.84175025
19kinetochore assembly (GO:0051382)3.84125070
20chromatin remodeling at centromere (GO:0031055)3.80207989
21somite development (GO:0061053)3.79845921
22positive regulation of oligodendrocyte differentiation (GO:0048714)3.77321764
23prostate gland growth (GO:0060736)3.75639241
24proteasome assembly (GO:0043248)3.73397693
25kinetochore organization (GO:0051383)3.72254268
26metaphase plate congression (GO:0051310)3.61060647
27serine family amino acid catabolic process (GO:0009071)3.60440514
28regulation of mitochondrial translation (GO:0070129)3.55619476
29positive regulation of fatty acid oxidation (GO:0046321)3.54397114
30nucleobase biosynthetic process (GO:0046112)3.52820961
31DNA replication checkpoint (GO:0000076)3.51812836
32telomere maintenance via recombination (GO:0000722)3.51208498
33ribosomal large subunit biogenesis (GO:0042273)3.50747137
34protein polyglutamylation (GO:0018095)3.45677220
35water-soluble vitamin biosynthetic process (GO:0042364)3.44917326
36response to caffeine (GO:0031000)3.42233031
37meiotic chromosome segregation (GO:0045132)3.41677308
38ribosomal small subunit assembly (GO:0000028)3.39820720
39IMP biosynthetic process (GO:0006188)3.38609187
40sulfation (GO:0051923)3.35576070
41cell proliferation in forebrain (GO:0021846)3.29143427
42deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.28895800
43lung-associated mesenchyme development (GO:0060484)3.28366690
44DNA replication-independent nucleosome assembly (GO:0006336)3.28143622
45DNA replication-independent nucleosome organization (GO:0034724)3.28143622
46folic acid-containing compound biosynthetic process (GO:0009396)3.25068565
47telomere maintenance via telomere lengthening (GO:0010833)3.24286270
48piRNA metabolic process (GO:0034587)3.23893376
49nucleotide-excision repair, DNA gap filling (GO:0006297)3.19190012
50oxidative phosphorylation (GO:0006119)3.14923981
51mitotic recombination (GO:0006312)3.14123181
52pseudouridine synthesis (GO:0001522)3.10882904
53indolalkylamine metabolic process (GO:0006586)3.10109126
54pteridine-containing compound biosynthetic process (GO:0042559)3.08685060
55fucose catabolic process (GO:0019317)3.08250573
56L-fucose metabolic process (GO:0042354)3.08250573
57L-fucose catabolic process (GO:0042355)3.08250573
58centrosome duplication (GO:0051298)3.07235880
59establishment of chromosome localization (GO:0051303)3.06145431
60epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.05443868
61rRNA modification (GO:0000154)3.04071399
62tryptophan catabolic process (GO:0006569)3.03635211
63indole-containing compound catabolic process (GO:0042436)3.03635211
64indolalkylamine catabolic process (GO:0046218)3.03635211
65amino acid salvage (GO:0043102)3.03555782
66L-methionine salvage (GO:0071267)3.03555782
67L-methionine biosynthetic process (GO:0071265)3.03555782
68* NADH dehydrogenase complex assembly (GO:0010257)3.03126162
69* mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.03126162
70* mitochondrial respiratory chain complex I assembly (GO:0032981)3.03126162
71kynurenine metabolic process (GO:0070189)3.02217091
72negative regulation of mast cell activation (GO:0033004)3.02023630
73epithelial cilium movement (GO:0003351)3.01522407
74IMP metabolic process (GO:0046040)2.99679578
75glycine metabolic process (GO:0006544)2.97674840
76transcription-coupled nucleotide-excision repair (GO:0006283)2.96147719
77DNA methylation involved in gamete generation (GO:0043046)2.96046474
78regulation of telomerase activity (GO:0051972)2.95819766
79* protein complex biogenesis (GO:0070271)2.95296454
80preassembly of GPI anchor in ER membrane (GO:0016254)2.94562052
81anterior/posterior axis specification, embryo (GO:0008595)2.93758478
82negative regulation of astrocyte differentiation (GO:0048712)2.93522726
83termination of RNA polymerase III transcription (GO:0006386)2.93440682
84transcription elongation from RNA polymerase III promoter (GO:0006385)2.93440682
85white fat cell differentiation (GO:0050872)2.93129765
86positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.92532097
87ribosome biogenesis (GO:0042254)2.91554338
88regulation of nuclear cell cycle DNA replication (GO:0033262)2.90068310
89histone exchange (GO:0043486)2.87930346
90aminoglycoside antibiotic metabolic process (GO:0030647)2.87599605
91ribonucleoprotein complex biogenesis (GO:0022613)2.85239473
92intra-S DNA damage checkpoint (GO:0031573)2.85131104
93quinone biosynthetic process (GO:1901663)2.84565555
94ubiquinone biosynthetic process (GO:0006744)2.84565555
95deoxyribose phosphate biosynthetic process (GO:0046385)2.82290647
962-deoxyribonucleotide biosynthetic process (GO:0009265)2.82290647
97regulation of mesoderm development (GO:2000380)2.79763640
98response to pheromone (GO:0019236)2.79724537
99L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79477026
100* mitochondrial respiratory chain complex assembly (GO:0033108)2.79226917
101positive regulation of mitochondrial fission (GO:0090141)2.78735517
102microtubule cytoskeleton organization involved in mitosis (GO:1902850)2.78592375
103purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.78250637
1043-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.78250637
105chromosome organization involved in meiosis (GO:0070192)2.77369863
106attachment of spindle microtubules to kinetochore (GO:0008608)2.76910757
107metallo-sulfur cluster assembly (GO:0031163)2.75800766
108iron-sulfur cluster assembly (GO:0016226)2.75800766
109mismatch repair (GO:0006298)2.74799322
110methionine biosynthetic process (GO:0009086)2.74721866
111maturation of SSU-rRNA (GO:0030490)2.74683824
112platelet dense granule organization (GO:0060155)2.74347395
113deoxyribonucleotide biosynthetic process (GO:0009263)2.73881750
114protein K6-linked ubiquitination (GO:0085020)2.73321703
115negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.73217843
116S-adenosylmethionine metabolic process (GO:0046500)2.73089570
117establishment of integrated proviral latency (GO:0075713)2.73088045
118spinal cord development (GO:0021510)2.72943129
119tetrahydrofolate metabolic process (GO:0046653)2.72872238
120folic acid metabolic process (GO:0046655)2.71682555
121regulation of helicase activity (GO:0051095)2.71468403
122positive regulation of glomerulus development (GO:0090193)2.71184836
123regulation of double-strand break repair via homologous recombination (GO:0010569)2.69402674
124regulation of collateral sprouting (GO:0048670)2.69143611
125regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.68962103
126sulfur amino acid biosynthetic process (GO:0000097)2.67403993
127anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.66333754
128methionine metabolic process (GO:0006555)2.65121854
129regulation of glomerulus development (GO:0090192)2.64707322
130cilium movement (GO:0003341)2.64667776
131lateral sprouting from an epithelium (GO:0060601)2.64441685
132deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.62609739
133regulation of action potential (GO:0098900)2.62532805
134positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.62017546
135spliceosomal snRNP assembly (GO:0000387)2.61898402
136regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.61671774
137otic vesicle formation (GO:0030916)2.60833625
138DNA double-strand break processing (GO:0000729)2.60603427
139tRNA methylation (GO:0030488)2.59968713
140rRNA methylation (GO:0031167)2.59878432
141termination of RNA polymerase I transcription (GO:0006363)2.59682265
142membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.59527307
143male meiosis I (GO:0007141)2.58415466
144axoneme assembly (GO:0035082)2.57679470
145regulation of cellular amino acid metabolic process (GO:0006521)2.56428825
146mannosylation (GO:0097502)2.56155286
147maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.56068772
148negative regulation of acute inflammatory response (GO:0002674)2.56057583
149DNA catabolic process, exonucleolytic (GO:0000738)2.55882362
150pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.55739517
151RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.55119472
152telomere organization (GO:0032200)2.55030307
153telomere maintenance (GO:0000723)2.54884231
154peristalsis (GO:0030432)2.53610439
155* cellular component biogenesis (GO:0044085)2.53523015
156positive regulation of DNA-dependent DNA replication (GO:2000105)2.53513084
157ribosome assembly (GO:0042255)2.53311614
158ubiquinone metabolic process (GO:0006743)2.52936318
159double-strand break repair via homologous recombination (GO:0000724)2.52796630
160recombinational repair (GO:0000725)2.52732883
161transcription from RNA polymerase I promoter (GO:0006360)2.51985969
162detection of light stimulus involved in visual perception (GO:0050908)2.51550038
163detection of light stimulus involved in sensory perception (GO:0050962)2.51550038
164mitochondrial RNA metabolic process (GO:0000959)2.51285688
165tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.51016722
166RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.51016722
167embryonic epithelial tube formation (GO:0001838)2.50869662
168DNA unwinding involved in DNA replication (GO:0006268)2.50589084
169respiratory chain complex IV assembly (GO:0008535)2.50396376
170serine family amino acid biosynthetic process (GO:0009070)2.50187152
171protein deneddylation (GO:0000338)2.49915077
172indole-containing compound metabolic process (GO:0042430)2.48001807
173nephron epithelium morphogenesis (GO:0072088)2.46472636
174nephron tubule morphogenesis (GO:0072078)2.46472636
175tryptophan metabolic process (GO:0006568)2.46113918
176limb development (GO:0060173)2.44699052
177appendage development (GO:0048736)2.44699052
178negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.43638497
179positive regulation of meiosis (GO:0045836)2.43499729
180negative regulation of synaptic transmission, GABAergic (GO:0032229)2.43482108
181ventricular septum development (GO:0003281)2.42854700
182endoderm formation (GO:0001706)2.42794439
183cellular ketone body metabolic process (GO:0046950)2.42298670
184cellular response to lithium ion (GO:0071285)2.41558291
185nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.39882253
186male meiosis (GO:0007140)2.39847949
187replication fork processing (GO:0031297)2.39679648
188exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.37525462
189peroxisome fission (GO:0016559)2.37455642
190presynaptic membrane assembly (GO:0097105)2.37240113
191GPI anchor metabolic process (GO:0006505)2.36945415
192negative regulation of DNA biosynthetic process (GO:2000279)2.36559334
193regulation of meiosis I (GO:0060631)2.35438809
194detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.35389899

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.57657104
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.05333210
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.00031394
4ZNF274_21170338_ChIP-Seq_K562_Hela3.52615275
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.30247131
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.23333646
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.18770018
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.17775125
9* GBX2_23144817_ChIP-Seq_PC3_Human3.08262047
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.98244118
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.86345774
12EZH2_22144423_ChIP-Seq_EOC_Human2.80700679
13VDR_22108803_ChIP-Seq_LS180_Human2.73007143
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.72276961
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.65060308
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.64820390
17MYC_19030024_ChIP-ChIP_MESCs_Mouse2.61948023
18FUS_26573619_Chip-Seq_HEK293_Human2.56472284
19E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.55993456
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.52294807
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.52222292
22ELF1_17652178_ChIP-ChIP_JURKAT_Human2.50069122
23CREB1_15753290_ChIP-ChIP_HEK293T_Human2.48727378
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.41566240
25IGF1R_20145208_ChIP-Seq_DFB_Human2.39128136
26SRF_21415370_ChIP-Seq_HL-1_Mouse2.38139616
27VDR_23849224_ChIP-Seq_CD4+_Human2.33436154
28* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.31828894
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.29534499
30MYC_19079543_ChIP-ChIP_MESCs_Mouse2.22231552
31* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.21473765
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.19233262
33NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.18598882
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.18588686
35EGR1_23403033_ChIP-Seq_LIVER_Mouse2.18155388
36DCP1A_22483619_ChIP-Seq_HELA_Human2.16824875
37FOXM1_23109430_ChIP-Seq_U2OS_Human2.13232350
38CTBP1_25329375_ChIP-Seq_LNCAP_Human2.11120232
39POU3F2_20337985_ChIP-ChIP_501MEL_Human2.11119014
40NELFA_20434984_ChIP-Seq_ESCs_Mouse2.10870372
41FOXP3_21729870_ChIP-Seq_TREG_Human2.08296148
42* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.07499402
43TAF15_26573619_Chip-Seq_HEK293_Human2.06349103
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.04390585
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.00741304
46CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.99061381
47CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.98093066
48XRN2_22483619_ChIP-Seq_HELA_Human1.97327936
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96285414
50P300_19829295_ChIP-Seq_ESCs_Human1.95172359
51EWS_26573619_Chip-Seq_HEK293_Human1.92809965
52CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.89787539
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.85086700
54ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.82925607
55BMI1_23680149_ChIP-Seq_NPCS_Mouse1.82863834
56AR_21909140_ChIP-Seq_LNCAP_Human1.82851066
57CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.80072139
58HOXB4_20404135_ChIP-ChIP_EML_Mouse1.80039313
59EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.78598976
60GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.77889689
61SALL1_21062744_ChIP-ChIP_HESCs_Human1.77288836
62* GABP_19822575_ChIP-Seq_HepG2_Human1.74979022
63PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.74491512
64MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.74461562
65SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.73286496
66ELK1_19687146_ChIP-ChIP_HELA_Human1.72972689
67* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.72915652
68YY1_21170310_ChIP-Seq_MESCs_Mouse1.66665830
69THAP11_20581084_ChIP-Seq_MESCs_Mouse1.65387075
70FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.63486653
71E2F1_21310950_ChIP-Seq_MCF-7_Human1.63478186
72NOTCH1_21737748_ChIP-Seq_TLL_Human1.61365788
73FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.60251066
74MYCN_18555785_ChIP-Seq_MESCs_Mouse1.57583845
75* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.56043372
76TTF2_22483619_ChIP-Seq_HELA_Human1.55578712
77* SMAD4_21799915_ChIP-Seq_A2780_Human1.55039198
78* ER_23166858_ChIP-Seq_MCF-7_Human1.54869728
79MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.54547529
80RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.53028826
81ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.52706321
82RBPJ_22232070_ChIP-Seq_NCS_Mouse1.52641084
83RNF2_27304074_Chip-Seq_NSC_Mouse1.51487119
84* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.47258381
85* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.45762851
86STAT3_23295773_ChIP-Seq_U87_Human1.45076123
87SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42637648
88BCAT_22108803_ChIP-Seq_LS180_Human1.41706740
89TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.40325210
90AR_25329375_ChIP-Seq_VCAP_Human1.38650875
91TCF4_23295773_ChIP-Seq_U87_Human1.38412083
92HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.38238321
93POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.38161361
94CBP_20019798_ChIP-Seq_JUKART_Human1.36291679
95IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.36291679
96NANOG_18555785_ChIP-Seq_MESCs_Mouse1.35220037
97SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35153392
98SUZ12_27294783_Chip-Seq_NPCs_Mouse1.34886805
99POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.34813186
100MYC_18940864_ChIP-ChIP_HL60_Human1.34325255
101PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32170873
102MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.28148115
103* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27551140
104TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27420284
105ZFX_18555785_ChIP-Seq_MESCs_Mouse1.26562090
106PADI4_21655091_ChIP-ChIP_MCF-7_Human1.26132773
107NR3C1_21868756_ChIP-Seq_MCF10A_Human1.25601859
108* AUTS2_25519132_ChIP-Seq_293T-REX_Human1.23635683
109NANOG_19829295_ChIP-Seq_ESCs_Human1.23121483
110SOX2_19829295_ChIP-Seq_ESCs_Human1.23121483
111NFE2_27457419_Chip-Seq_LIVER_Mouse1.21458710
112SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.21153901
113SMAD3_21741376_ChIP-Seq_EPCs_Human1.20714352
114PIAS1_25552417_ChIP-Seq_VCAP_Human1.19316392
115PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.19235136
116PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16451204
117IRF1_19129219_ChIP-ChIP_H3396_Human1.16401622
118RUNX2_22187159_ChIP-Seq_PCA_Human1.16266067
119TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.16090897
120TCF4_22108803_ChIP-Seq_LS180_Human1.15746516
121* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.15488947
122POU5F1_16153702_ChIP-ChIP_HESCs_Human1.15360315
123TP53_22573176_ChIP-Seq_HFKS_Human1.14978961
124FOXA1_25329375_ChIP-Seq_VCAP_Human1.14668394
125FOXA1_27270436_Chip-Seq_PROSTATE_Human1.14668394
126SMAD4_21741376_ChIP-Seq_EPCs_Human1.13989760
127HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13688325
128CIITA_25753668_ChIP-Seq_RAJI_Human1.13510617
129NANOG_18555785_Chip-Seq_ESCs_Mouse1.13248888
130IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.12581618
131PRDM14_20953172_ChIP-Seq_ESCs_Human1.11250659
132NCOR_22424771_ChIP-Seq_293T_Human1.10605367
133LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10357232
134KAP1_22055183_ChIP-Seq_ESCs_Mouse1.10316587
135EZH2_27304074_Chip-Seq_ESCs_Mouse1.10313835
136* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10087154
137TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10000514
138CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09643394
139EED_16625203_ChIP-ChIP_MESCs_Mouse1.09623602
140EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09151539
141EZH2_27294783_Chip-Seq_NPCs_Mouse1.08743205
142RXR_22158963_ChIP-Seq_LIVER_Mouse1.07796812
143* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.06989012
144JARID2_20064375_ChIP-Seq_MESCs_Mouse1.05915289
145OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05340832
146TP63_19390658_ChIP-ChIP_HaCaT_Human1.04658988
147ARNT_22903824_ChIP-Seq_MCF-7_Human1.02816001
148FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02790924
149EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.02335853
150PPARA_22158963_ChIP-Seq_LIVER_Mouse1.02054708
151P53_22387025_ChIP-Seq_ESCs_Mouse1.01753020
152AHR_22903824_ChIP-Seq_MCF-7_Human0.99599589
153KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99450544
154REST_21632747_ChIP-Seq_MESCs_Mouse0.98965623
155GATA3_21878914_ChIP-Seq_MCF-7_Human0.98757126
156POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98603562
157TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98603562
158TDRD3_21172665_ChIP-Seq_MCF-7_Human0.97736001
159SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.96662579
160BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.96541086
161E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.96486689
162TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96241032
163STAT3_18555785_Chip-Seq_ESCs_Mouse0.96040343
164KDM5A_27292631_Chip-Seq_BREAST_Human0.94796309
165GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.94156475
166STAT3_1855785_ChIP-Seq_MESCs_Mouse0.93294634
167CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.91449847
168IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.90989885
169ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.90500465
170IRF8_22096565_ChIP-ChIP_GC-B_Human0.85884705
171CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.84098118
172GATA1_22025678_ChIP-Seq_K562_Human0.81445939
173EGR1_19374776_ChIP-ChIP_THP-1_Human0.79629376
174CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.79327196
175FLI1_27457419_Chip-Seq_LIVER_Mouse0.78563856
176SPI1_23547873_ChIP-Seq_NB4_Human0.78048625
177CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.77035353
178SOX2_18555785_ChIP-Seq_MESCs_Mouse0.76970684
179SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.76558568
180PCGF2_27294783_Chip-Seq_ESCs_Mouse0.75649109
181TFEB_21752829_ChIP-Seq_HELA_Human0.74145044
182IRF8_21731497_ChIP-ChIP_J774_Mouse0.73519833
183SOX17_20123909_ChIP-Seq_XEN_Mouse0.68801927
184NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.67876501

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis4.12144244
2MP0003693_abnormal_embryo_hatching3.97610672
3MP0002139_abnormal_hepatobiliary_system3.58743123
4MP0010094_abnormal_chromosome_stability3.49335356
5MP0008058_abnormal_DNA_repair3.47375814
6MP0005360_urolithiasis3.28225009
7MP0003111_abnormal_nucleus_morphology3.01487090
8MP0005646_abnormal_pituitary_gland2.98700320
9MP0003186_abnormal_redox_activity2.97668771
10MP0009697_abnormal_copulation2.81767696
11MP0005085_abnormal_gallbladder_physiolo2.76932854
12MP0008057_abnormal_DNA_replication2.70192259
13MP0003077_abnormal_cell_cycle2.69015582
14MP0004957_abnormal_blastocyst_morpholog2.66413188
15MP0001485_abnormal_pinna_reflex2.65132422
16MP0005365_abnormal_bile_salt2.48420583
17MP0000013_abnormal_adipose_tissue2.48239106
18MP0006292_abnormal_olfactory_placode2.24017777
19MP0000049_abnormal_middle_ear2.19392933
20MP0005367_renal/urinary_system_phenotyp2.19294997
21MP0000516_abnormal_urinary_system2.19294997
22MP0008007_abnormal_cellular_replicative2.18488712
23MP0002837_dystrophic_cardiac_calcinosis2.08103079
24MP0001764_abnormal_homeostasis2.01466231
25MP0003136_yellow_coat_color1.91782436
26MP0005551_abnormal_eye_electrophysiolog1.90385462
27MP0001661_extended_life_span1.89303950
28MP0003315_abnormal_perineum_morphology1.87021367
29MP0003119_abnormal_digestive_system1.86079875
30MP0006036_abnormal_mitochondrial_physio1.84171997
31MP0003718_maternal_effect1.82681037
32MP0003937_abnormal_limbs/digits/tail_de1.79108927
33MP0002396_abnormal_hematopoietic_system1.78332264
34MP0002876_abnormal_thyroid_physiology1.75701803
35MP0002653_abnormal_ependyma_morphology1.71378129
36MP0006072_abnormal_retinal_apoptosis1.70837190
37MP0001188_hyperpigmentation1.69690696
38MP0000631_abnormal_neuroendocrine_gland1.68079976
39MP0003011_delayed_dark_adaptation1.65693474
40MP0002938_white_spotting1.64721754
41MP0008004_abnormal_stomach_pH1.60999254
42MP0008932_abnormal_embryonic_tissue1.58505241
43MP0006035_abnormal_mitochondrial_morpho1.56633132
44MP0008875_abnormal_xenobiotic_pharmacok1.52464115
45MP0005253_abnormal_eye_physiology1.49511770
46MP0009053_abnormal_anal_canal1.46544852
47MP0002282_abnormal_trachea_morphology1.44881544
48MP0003786_premature_aging1.44769175
49MP0005332_abnormal_amino_acid1.43309982
50MP0008872_abnormal_physiological_respon1.41733132
51MP0009046_muscle_twitch1.38039357
52MP0002138_abnormal_hepatobiliary_system1.37763576
53MP0002234_abnormal_pharynx_morphology1.37542737
54MP0004019_abnormal_vitamin_homeostasis1.36091786
55MP0002751_abnormal_autonomic_nervous1.35521483
56MP0001853_heart_inflammation1.34479456
57MP0003252_abnormal_bile_duct1.30808948
58MP0005174_abnormal_tail_pigmentation1.30011878
59MP0000490_abnormal_crypts_of1.29884544
60MP0002132_abnormal_respiratory_system1.29214973
61MP0009785_altered_susceptibility_to1.27701464
62MP0004142_abnormal_muscle_tone1.27346969
63MP0005451_abnormal_body_composition1.26213499
64MP0000383_abnormal_hair_follicle1.23909019
65MP0003646_muscle_fatigue1.23795114
66MP0003283_abnormal_digestive_organ1.20707002
67MP0005645_abnormal_hypothalamus_physiol1.20579060
68MP0001835_abnormal_antigen_presentation1.20095376
69MP0001968_abnormal_touch/_nociception1.19948909
70MP0000569_abnormal_digit_pigmentation1.19409778
71MP0002272_abnormal_nervous_system1.18773344
72MP0001119_abnormal_female_reproductive1.17652104
73MP0003938_abnormal_ear_development1.17467526
74MP0004147_increased_porphyrin_level1.15804188
75MP0009745_abnormal_behavioral_response1.14784833
76MP0005670_abnormal_white_adipose1.13374180
77MP0002102_abnormal_ear_morphology1.10884675
78MP0004130_abnormal_muscle_cell1.09555703
79MP0005195_abnormal_posterior_eye1.06682245
80MP0008789_abnormal_olfactory_epithelium1.06498067
81MP0004885_abnormal_endolymph1.06072666
82MP0009764_decreased_sensitivity_to1.05396184
83MP0009840_abnormal_foam_cell1.04515019
84MP0005319_abnormal_enzyme/_coenzyme1.03970762
85MP0002210_abnormal_sex_determination1.03498748
86MP0002163_abnormal_gland_morphology1.02563802
87MP0002638_abnormal_pupillary_reflex0.98354888
88MP0001963_abnormal_hearing_physiology0.98096749
89MP0005379_endocrine/exocrine_gland_phen0.97658936
90MP0000313_abnormal_cell_death0.97507999
91MP0002019_abnormal_tumor_incidence0.97465500
92MP0003936_abnormal_reproductive_system0.96406424
93MP0008260_abnormal_autophagy0.96268155
94MP0001293_anophthalmia0.95877925
95MP0002736_abnormal_nociception_after0.95147794
96MP0000427_abnormal_hair_cycle0.95035401
97MP0006276_abnormal_autonomic_nervous0.94867608
98MP0008877_abnormal_DNA_methylation0.93631170
99MP0002160_abnormal_reproductive_system0.93599027
100MP0003195_calcinosis0.92916970
101MP0005266_abnormal_metabolism0.92151062
102MP0003698_abnormal_male_reproductive0.92095109
103MP0001873_stomach_inflammation0.91763153
104MP0005410_abnormal_fertilization0.91719544
105MP0003943_abnormal_hepatobiliary_system0.91284107
106MP0000350_abnormal_cell_proliferation0.90580790
107MP0001486_abnormal_startle_reflex0.90124487
108MP0002735_abnormal_chemical_nociception0.89553619
109MP0004145_abnormal_muscle_electrophysio0.89219035
110MP0003787_abnormal_imprinting0.88155118
111MP0010329_abnormal_lipoprotein_level0.87425081
112MP0001984_abnormal_olfaction0.86435001
113MP0000372_irregular_coat_pigmentation0.86052021
114MP0005389_reproductive_system_phenotype0.85351556
115MP0004133_heterotaxia0.85050438
116MP0001145_abnormal_male_reproductive0.83825012
117MP0001529_abnormal_vocalization0.83624177
118MP0000598_abnormal_liver_morphology0.81569881
119MP0002928_abnormal_bile_duct0.80890479
120MP0003868_abnormal_feces_composition0.80850038
121MP0004215_abnormal_myocardial_fiber0.80645121
122MP0000026_abnormal_inner_ear0.79950077
123MP0000358_abnormal_cell_content/0.79652112
124MP0003656_abnormal_erythrocyte_physiolo0.79633615
125MP0000537_abnormal_urethra_morphology0.79510997
126MP0001929_abnormal_gametogenesis0.79441419
127MP0000653_abnormal_sex_gland0.78284376
128MP0001986_abnormal_taste_sensitivity0.77779709
129MP0009763_increased_sensitivity_to0.77697622
130MP0002557_abnormal_social/conspecific_i0.77421818
131MP0000609_abnormal_liver_physiology0.77023853
132MP0008469_abnormal_protein_level0.76717422
133MP0000858_altered_metastatic_potential0.76358484
134MP0003123_paternal_imprinting0.76109483
135MP0003763_abnormal_thymus_physiology0.75656859
136MP0005376_homeostasis/metabolism_phenot0.74708568
137MP0009643_abnormal_urine_homeostasis0.74364264
138MP0005220_abnormal_exocrine_pancreas0.73971875
139MP0002095_abnormal_skin_pigmentation0.73400860
140MP0009765_abnormal_xenobiotic_induced0.72859512
141MP0008995_early_reproductive_senescence0.72773234
142MP0010307_abnormal_tumor_latency0.72713295
143MP0003121_genomic_imprinting0.71827665
144MP0004782_abnormal_surfactant_physiolog0.71600873
145MP0001666_abnormal_nutrient_absorption0.70862033
146MP0009333_abnormal_splenocyte_physiolog0.70707934
147MP0002233_abnormal_nose_morphology0.70544639
148MP0003724_increased_susceptibility_to0.70030793
149MP0000003_abnormal_adipose_tissue0.70027385
150MP0002148_abnormal_hypersensitivity_rea0.69896737
151MP0003567_abnormal_fetal_cardiomyocyte0.69454033
152MP0002752_abnormal_somatic_nervous0.69429318
153MP0005084_abnormal_gallbladder_morpholo0.68857833
154MP0005584_abnormal_enzyme/coenzyme_acti0.68805744
155MP0009250_abnormal_appendicular_skeleto0.68777892
156MP0005075_abnormal_melanosome_morpholog0.68747918
157MP0005380_embryogenesis_phenotype0.68663811
158MP0001672_abnormal_embryogenesis/_devel0.68663811
159MP0000689_abnormal_spleen_morphology0.67804601
160MP0002572_abnormal_emotion/affect_behav0.67549758
161MP0001730_embryonic_growth_arrest0.66726738
162MP0005395_other_phenotype0.65171780
163MP0005377_hearing/vestibular/ear_phenot0.61469474
164MP0003878_abnormal_ear_physiology0.61469474
165MP0005025_abnormal_response_to0.61343134
166MP0002429_abnormal_blood_cell0.61000945
167MP0005671_abnormal_response_to0.60953508
168MP0003890_abnormal_embryonic-extraembry0.60884343

Predicted human phenotypes

RankGene SetZ-score
1Short 1st metacarpal (HP:0010034)5.49127305
2Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)5.49127305
3Abnormality of the 1st metacarpal (HP:0010009)4.80190009
4Stenosis of the external auditory canal (HP:0000402)4.59741187
5Chromosomal breakage induced by crosslinking agents (HP:0003221)3.74397521
6Ectopic kidney (HP:0000086)3.73037665
7Birth length less than 3rd percentile (HP:0003561)3.53810114
8Chromsome breakage (HP:0040012)3.52818189
9Abnormality of pyrimidine metabolism (HP:0004353)3.46697626
10Short phalanx of the thumb (HP:0009660)3.43632580
11Short hallux (HP:0010109)3.28295423
12True hermaphroditism (HP:0010459)3.17690722
13Absent thumb (HP:0009777)3.16063883
14Aplasia/Hypoplasia of the hallux (HP:0008362)3.15155440
15Reticulocytopenia (HP:0001896)3.13265609
16Oral leukoplakia (HP:0002745)3.09356433
17Carpal bone hypoplasia (HP:0001498)3.08322637
18Microvesicular hepatic steatosis (HP:0001414)3.07438563
19Fused cervical vertebrae (HP:0002949)3.07188745
20Hepatic necrosis (HP:0002605)3.06841881
21Molar tooth sign on MRI (HP:0002419)3.04025701
22Abnormality of midbrain morphology (HP:0002418)3.04025701
23Bile duct proliferation (HP:0001408)3.01003787
24Abnormal biliary tract physiology (HP:0012439)3.01003787
25Intrahepatic cholestasis (HP:0001406)2.93555468
26Decreased activity of mitochondrial respiratory chain (HP:0008972)2.86632446
27Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.86632446
28* Acute encephalopathy (HP:0006846)2.82329660
293-Methylglutaconic aciduria (HP:0003535)2.81521245
30* Acute necrotizing encephalopathy (HP:0006965)2.80863925
31Increased serum lactate (HP:0002151)2.80149793
32Dicarboxylic aciduria (HP:0003215)2.79118645
33Abnormality of dicarboxylic acid metabolism (HP:0010995)2.79118645
34Oligomenorrhea (HP:0000876)2.78879410
35Nephronophthisis (HP:0000090)2.77593852
36* Abnormal mitochondria in muscle tissue (HP:0008316)2.75462579
37Pendular nystagmus (HP:0012043)2.74804884
38Renal cortical cysts (HP:0000803)2.72599158
39* Cerebral edema (HP:0002181)2.72018321
40Abnormality of chromosome stability (HP:0003220)2.71594278
41Nausea (HP:0002018)2.70334741
42Hyperglycinuria (HP:0003108)2.70327244
43Abnormality of monocarboxylic acid metabolism (HP:0010996)2.70076922
44Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.69523867
45Abnormality of the preputium (HP:0100587)2.69200778
46Aplasia/Hypoplasia involving the musculature (HP:0001460)2.68793558
47* Increased CSF lactate (HP:0002490)2.64852740
48Congenital stationary night blindness (HP:0007642)2.64248099
49Hyperglycinemia (HP:0002154)2.64031689
50Abolished electroretinogram (ERG) (HP:0000550)2.62961194
51Abnormality of the nasal septum (HP:0000419)2.60569488
52Reduced antithrombin III activity (HP:0001976)2.60426904
53Generalized aminoaciduria (HP:0002909)2.59192063
54Hepatocellular necrosis (HP:0001404)2.58269192
55Abnormality of fatty-acid metabolism (HP:0004359)2.57202124
56Rectal fistula (HP:0100590)2.56352762
57Rectovaginal fistula (HP:0000143)2.56352762
58Abnormality of aromatic amino acid family metabolism (HP:0004338)2.56132025
59Abnormality of serum amino acid levels (HP:0003112)2.54583737
60Meckel diverticulum (HP:0002245)2.53780016
61Type I transferrin isoform profile (HP:0003642)2.52160422
62Proximal tubulopathy (HP:0000114)2.51967401
63* Mitochondrial inheritance (HP:0001427)2.51227726
64Colon cancer (HP:0003003)2.50045497
65Abnormality of methionine metabolism (HP:0010901)2.48970070
66Aplastic anemia (HP:0001915)2.48760368
67Abnormality of the proximal phalanges of the hand (HP:0009834)2.48569253
68Severe muscular hypotonia (HP:0006829)2.48381015
69Hypobetalipoproteinemia (HP:0003563)2.46057478
70Dynein arm defect of respiratory motile cilia (HP:0012255)2.44506890
71Absent/shortened dynein arms (HP:0200106)2.44506890
72Aplasia/Hypoplasia of the uvula (HP:0010293)2.44116434
73Hypoglycemic coma (HP:0001325)2.44059589
74Abnormality of the ileum (HP:0001549)2.43757994
75Horseshoe kidney (HP:0000085)2.41815081
76Microretrognathia (HP:0000308)2.39504208
77Hyperammonemia (HP:0001987)2.39259198
78* Lactic acidosis (HP:0003128)2.36428173
79Synostosis of carpal bones (HP:0005048)2.35587039
80Congenital sensorineural hearing impairment (HP:0008527)2.34138656
81* Progressive macrocephaly (HP:0004481)2.32830802
82Abnormality of the renal medulla (HP:0100957)2.31579821
83Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.29095340
84Maternal diabetes (HP:0009800)2.28429391
85Abnormal ciliary motility (HP:0012262)2.28286956
86* Lethargy (HP:0001254)2.28024175
87Abnormality of alanine metabolism (HP:0010916)2.26753095
88Hyperalaninemia (HP:0003348)2.26753095
89Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.26753095
90Type II lissencephaly (HP:0007260)2.24477016
91Abnormality of aspartate family amino acid metabolism (HP:0010899)2.24325822
92Chorioretinal atrophy (HP:0000533)2.23561803
93Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.22917509
94Pancytopenia (HP:0001876)2.22478910
95Abnormality of serine family amino acid metabolism (HP:0010894)2.21886102
96Abnormality of glycine metabolism (HP:0010895)2.21886102
97Increased corneal curvature (HP:0100692)2.21090647
98Keratoconus (HP:0000563)2.21090647
99Decreased subcutaneous fat (HP:0001002)2.20293652
100Duplicated collecting system (HP:0000081)2.19751223
101Pancreatic cysts (HP:0001737)2.18086317
102Abnormality of DNA repair (HP:0003254)2.17851399
103Bone marrow hypocellularity (HP:0005528)2.17820529
104Medial flaring of the eyebrow (HP:0010747)2.16100212
105Supernumerary spleens (HP:0009799)2.15582457
106Short thumb (HP:0009778)2.15319721
107Abnormal respiratory motile cilium morphology (HP:0005938)2.13402232
108Abnormal respiratory epithelium morphology (HP:0012253)2.13402232
109Tachypnea (HP:0002789)2.11895807
110Rough bone trabeculation (HP:0100670)2.10771992
111Breast hypoplasia (HP:0003187)2.10681347
112Absent radius (HP:0003974)2.09713220
113Abnormality of the renal collecting system (HP:0004742)2.07742029
114Humeroradial synostosis (HP:0003041)2.07105093
115Synostosis involving the elbow (HP:0003938)2.07105093
116Abnormality of the prostate (HP:0008775)2.05315770
117Lipid accumulation in hepatocytes (HP:0006561)2.05130629
118Aplasia involving forearm bones (HP:0009822)2.05127718
119Absent forearm bone (HP:0003953)2.05127718
120Abnormality of glycolysis (HP:0004366)2.05088402
121Increased serum pyruvate (HP:0003542)2.05088402
122Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.05040675
123Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.04955745
124Toxemia of pregnancy (HP:0100603)2.03384275
125Sclerocornea (HP:0000647)2.02848704
126Prolonged partial thromboplastin time (HP:0003645)2.02831223
127Aplasia/Hypoplasia of the tibia (HP:0005772)2.02825362
128Chronic hepatic failure (HP:0100626)2.02772116
129Methylmalonic acidemia (HP:0002912)2.02480043
130Methylmalonic aciduria (HP:0012120)2.00751977
131* Exercise intolerance (HP:0003546)2.00053880
132Abnormal spermatogenesis (HP:0008669)1.99228605
133Hypoalphalipoproteinemia (HP:0003233)1.99214810
134Vaginal fistula (HP:0004320)1.98337108
135Insulin-resistant diabetes mellitus (HP:0000831)1.97722179
136Increased hepatocellular lipid droplets (HP:0006565)1.97380577
137Abnormality of the carotid arteries (HP:0005344)1.97356724
138Pancreatic fibrosis (HP:0100732)1.97063412
139Cystic liver disease (HP:0006706)1.95921002
140Intestinal fistula (HP:0100819)1.95853442
141Abnormality of the renal cortex (HP:0011035)1.95243224
142Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.95054120
143Gaze-evoked nystagmus (HP:0000640)1.94215568
144Symphalangism affecting the phalanges of the hand (HP:0009773)1.93360496
145Aplasia/Hypoplasia of the sacrum (HP:0008517)1.92721917
146Abnormality of the middle phalanges of the toes (HP:0010183)1.92598216
147Abnormal respiratory motile cilium physiology (HP:0012261)1.91993864
148Bony spicule pigmentary retinopathy (HP:0007737)1.91590947
149Clubbing of toes (HP:0100760)1.91390405
150Short humerus (HP:0005792)1.90707009
151Hypoplasia of the ulna (HP:0003022)1.90139590
152Morphological abnormality of the middle ear (HP:0008609)1.89044617
153Aplasia/hypoplasia of the humerus (HP:0006507)1.88969408
154Concave nail (HP:0001598)1.88093789
155Aplasia/Hypoplasia of the tongue (HP:0010295)1.87308075
156Preaxial hand polydactyly (HP:0001177)1.85572518
157Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.85224716
158Hypergonadotropic hypogonadism (HP:0000815)1.84544069
159Attenuation of retinal blood vessels (HP:0007843)1.83840533
160Congenital, generalized hypertrichosis (HP:0004540)1.83620952
161Hyperglycemia (HP:0003074)1.83276614
162Duodenal stenosis (HP:0100867)1.82839546
163Small intestinal stenosis (HP:0012848)1.82839546
164Premature graying of hair (HP:0002216)1.82457288
165Cerebellar dysplasia (HP:0007033)1.81500431
166Abnormal protein glycosylation (HP:0012346)1.80650707
167Abnormal glycosylation (HP:0012345)1.80650707
168Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.80650707
169Abnormal protein N-linked glycosylation (HP:0012347)1.80650707
170Alveolar cell carcinoma (HP:0006519)1.79617020
171Agnosia (HP:0010524)1.79577683
172Triphalangeal thumb (HP:0001199)1.78913740
173Optic nerve coloboma (HP:0000588)1.78910847
174Pallor (HP:0000980)1.76733315
175Abnormality of urine glucose concentration (HP:0011016)1.76668241
176Glycosuria (HP:0003076)1.76668241
177Abnormality of the phalanges of the 5th finger (HP:0004213)1.75998815
178Delayed CNS myelination (HP:0002188)1.75541612
179Abnormality of sulfur amino acid metabolism (HP:0004339)1.75108006
180Azoospermia (HP:0000027)1.74637910
181Hypolipoproteinemia (HP:0010981)1.71198435
182Myelodysplasia (HP:0002863)1.71024750

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.67337375
2STK164.04289123
3EIF2AK13.87839826
4BUB13.72431024
5WEE13.12810744
6BCKDK2.61659975
7PLK42.58442686
8ZAK2.45821982
9NME22.39429293
10CDC72.37733618
11SRPK12.35054805
12MAP4K22.28313224
13EIF2AK32.22081073
14WNK32.20849146
15VRK12.16794019
16NEK22.12322344
17TTK2.10983865
18EIF2AK21.99406432
19ACVR1B1.92805465
20PINK11.84764952
21WNK41.82430664
22PLK21.70854220
23MAPK131.63047065
24ATR1.62674159
25CDK91.62388568
26TAOK31.59507354
27STK391.57534336
28IRAK31.54893551
29TNIK1.52196904
30FLT31.51501478
31TAF11.48869450
32PASK1.48118523
33PBK1.47585127
34PLK11.47345076
35DYRK31.46545234
36CASK1.45368549
37NUAK11.43841312
38IRAK41.43405782
39STK38L1.42500074
40AKT31.37153316
41TSSK61.36250303
42AURKB1.33954966
43TRIM281.31046846
44TXK1.29260611
45MAP3K41.28855044
46TEC1.27502869
47OXSR11.27315299
48BRSK21.26666211
49BRAF1.24758118
50VRK21.21905528
51MAP2K11.16429200
52CSNK1G11.15864807
53RPS6KA41.14917238
54CSNK1G21.13982429
55MKNK11.13849033
56TLK11.13843086
57PNCK1.13089656
58CDK71.11547475
59PIM21.10152052
60CDK81.05587705
61CSNK1G31.04714105
62GRK11.00154993
63YES10.99401262
64PLK30.99126197
65CHEK20.99008315
66PRKCG0.98561506
67PRKCE0.97078499
68NME10.96519821
69TAOK20.96395033
70NEK10.95353209
71MAP3K140.94211575
72MST1R0.93921098
73CSNK1A1L0.93510000
74CCNB10.93003155
75RPS6KB20.91792807
76CDK40.90367009
77AURKA0.90209647
78PHKG10.87563032
79PHKG20.87563032
80DYRK20.87429190
81MST40.86606618
82ADRBK20.82006110
83KIT0.81306272
84MUSK0.80437709
85PAK30.79883320
86ADRBK10.77563794
87MKNK20.77258681
88NTRK30.76977548
89MAP3K110.76607469
90KDR0.75682517
91CSNK2A10.75209219
92MAP2K70.75137179
93MAP4K10.74134181
94NEK90.72385091
95STK30.70618651
96NLK0.70281086
97MAPK150.69457272
98PIK3CA0.69339492
99EPHA40.67950472
100MAPKAPK50.67822867
101BMPR1B0.67794033
102ATM0.64347046
103RPS6KA50.63643539
104STK40.62573589
105CSNK1A10.62292207
106STK240.61893496
107CHEK10.61231190
108TGFBR10.59221427
109FGFR20.59143597
110ABL20.58200065
111TYK20.58099996
112CSNK2A20.55209969
113PIM10.55026576
114IKBKB0.54965253
115MARK10.54031920
116PIK3CG0.53901620
117BCR0.53519452
118CAMK2A0.53174874
119IRAK10.52607098
120OBSCN0.51467102
121MAP2K30.51074529
122PDK20.49276463
123LYN0.49081369
124PRKACA0.48326288
125CSNK1D0.47150652
126CDK190.46829569
127MAP3K80.46559978
128TIE10.46481982
129MAPKAPK30.45652221
130TRPM70.45630270
131CDK30.44746970
132EPHA20.44594496
133GRK50.43547027
134PRKCI0.41971415
135MAPK110.40559718
136INSRR0.40468789
137BTK0.38396549
138DAPK20.37552410
139BRSK10.37233116
140PRKAA20.36330771
141PKN10.35206150
142BMPR20.35081427
143CHUK0.34879336
144RPS6KB10.34842175
145ERBB30.34651781
146PRKAA10.34197618
147CDK20.34191788
148CSF1R0.33402818
149ERBB40.32798247
150PRKG10.31055856
151PRKCA0.31021717
152PRKACB0.30786457
153IGF1R0.30521917
154WNK10.30320161

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.62291707
2Mismatch repair_Homo sapiens_hsa034303.22737668
3Proteasome_Homo sapiens_hsa030502.92469751
4One carbon pool by folate_Homo sapiens_hsa006702.73064073
5RNA polymerase_Homo sapiens_hsa030202.55712691
6Homologous recombination_Homo sapiens_hsa034402.49650750
7Ribosome_Homo sapiens_hsa030102.41317049
8Base excision repair_Homo sapiens_hsa034102.31470338
9Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.28056447
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.26547008
11Pyrimidine metabolism_Homo sapiens_hsa002402.26142165
12Maturity onset diabetes of the young_Homo sapiens_hsa049502.25136618
13Phototransduction_Homo sapiens_hsa047442.21404740
14Nucleotide excision repair_Homo sapiens_hsa034202.11819913
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95938488
16Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.91327410
17Spliceosome_Homo sapiens_hsa030401.88860215
18Linoleic acid metabolism_Homo sapiens_hsa005911.85913305
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.84210784
20Fanconi anemia pathway_Homo sapiens_hsa034601.82733086
21Folate biosynthesis_Homo sapiens_hsa007901.80098139
22Nitrogen metabolism_Homo sapiens_hsa009101.79502853
23Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.77665314
24RNA transport_Homo sapiens_hsa030131.69156558
25alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.68132002
26Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.64835295
27Propanoate metabolism_Homo sapiens_hsa006401.62320509
28Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.60291477
29Nicotine addiction_Homo sapiens_hsa050331.59818324
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.58298820
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.55038283
32Primary bile acid biosynthesis_Homo sapiens_hsa001201.54953798
33Non-homologous end-joining_Homo sapiens_hsa034501.49571506
34Drug metabolism - other enzymes_Homo sapiens_hsa009831.48474045
35Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.44274400
36Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.43088617
37Peroxisome_Homo sapiens_hsa041461.42684522
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.41255167
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.41014767
40Fatty acid degradation_Homo sapiens_hsa000711.38284471
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.37668078
42Selenocompound metabolism_Homo sapiens_hsa004501.34346041
43Basal transcription factors_Homo sapiens_hsa030221.32934986
44Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.32451598
45Cell cycle_Homo sapiens_hsa041101.32111499
46Parkinsons disease_Homo sapiens_hsa050121.30135516
47Ether lipid metabolism_Homo sapiens_hsa005651.28840518
48Oxidative phosphorylation_Homo sapiens_hsa001901.27137613
49Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.26906488
50Purine metabolism_Homo sapiens_hsa002301.24868933
51Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.23283982
52Pentose and glucuronate interconversions_Homo sapiens_hsa000401.20838733
53Carbon metabolism_Homo sapiens_hsa012001.18607248
54RNA degradation_Homo sapiens_hsa030181.18470347
55Sulfur relay system_Homo sapiens_hsa041221.17618769
56Huntingtons disease_Homo sapiens_hsa050161.14228045
57Pentose phosphate pathway_Homo sapiens_hsa000301.12911923
58Biosynthesis of amino acids_Homo sapiens_hsa012301.12464664
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.11052120
60Tryptophan metabolism_Homo sapiens_hsa003801.10108314
61Taste transduction_Homo sapiens_hsa047421.08530373
62Fat digestion and absorption_Homo sapiens_hsa049751.06904248
63beta-Alanine metabolism_Homo sapiens_hsa004101.01063979
642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99976808
65Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.98219001
66Cardiac muscle contraction_Homo sapiens_hsa042600.97468507
67Pyruvate metabolism_Homo sapiens_hsa006200.97215506
68Olfactory transduction_Homo sapiens_hsa047400.95813108
69Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.95154824
70Steroid hormone biosynthesis_Homo sapiens_hsa001400.93578100
71Protein export_Homo sapiens_hsa030600.93134399
72Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.93110477
73Retinol metabolism_Homo sapiens_hsa008300.90774502
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.90665992
75Glutathione metabolism_Homo sapiens_hsa004800.90021947
76Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.88709774
77Glycerolipid metabolism_Homo sapiens_hsa005610.88379993
78Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.87934571
79Arginine and proline metabolism_Homo sapiens_hsa003300.83217429
80Chemical carcinogenesis_Homo sapiens_hsa052040.83210954
81Collecting duct acid secretion_Homo sapiens_hsa049660.82009433
82p53 signaling pathway_Homo sapiens_hsa041150.81148400
83Phenylalanine metabolism_Homo sapiens_hsa003600.80844595
84Morphine addiction_Homo sapiens_hsa050320.78693885
85Tyrosine metabolism_Homo sapiens_hsa003500.78268224
86Histidine metabolism_Homo sapiens_hsa003400.77830354
87Herpes simplex infection_Homo sapiens_hsa051680.77817763
88Metabolic pathways_Homo sapiens_hsa011000.77210099
89Systemic lupus erythematosus_Homo sapiens_hsa053220.76370490
90Fatty acid metabolism_Homo sapiens_hsa012120.75651134
91Basal cell carcinoma_Homo sapiens_hsa052170.75466076
92Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.75069025
93Renin-angiotensin system_Homo sapiens_hsa046140.74534992
94Insulin secretion_Homo sapiens_hsa049110.74393491
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.72445055
96Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.71596768
97Legionellosis_Homo sapiens_hsa051340.67714329
98Regulation of autophagy_Homo sapiens_hsa041400.66448274
99Fatty acid elongation_Homo sapiens_hsa000620.66026815
100Complement and coagulation cascades_Homo sapiens_hsa046100.65413244
101Arginine biosynthesis_Homo sapiens_hsa002200.60047568
102Dorso-ventral axis formation_Homo sapiens_hsa043200.59241690
103GABAergic synapse_Homo sapiens_hsa047270.58259239
104Alzheimers disease_Homo sapiens_hsa050100.58191629
105PPAR signaling pathway_Homo sapiens_hsa033200.56490644
106Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.56469309
107Vitamin B6 metabolism_Homo sapiens_hsa007500.55502113
108Steroid biosynthesis_Homo sapiens_hsa001000.55334614
109Circadian entrainment_Homo sapiens_hsa047130.54081935
110Calcium signaling pathway_Homo sapiens_hsa040200.53253664
111Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52646904
112Vitamin digestion and absorption_Homo sapiens_hsa049770.51149152
113Intestinal immune network for IgA production_Homo sapiens_hsa046720.50611658
114Cyanoamino acid metabolism_Homo sapiens_hsa004600.50385634
115Epstein-Barr virus infection_Homo sapiens_hsa051690.49980998
116Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.49703782
117Fatty acid biosynthesis_Homo sapiens_hsa000610.48945955
118Arachidonic acid metabolism_Homo sapiens_hsa005900.47754724
119Glutamatergic synapse_Homo sapiens_hsa047240.47650814
120Ovarian steroidogenesis_Homo sapiens_hsa049130.47552766
121RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.45299385
122TGF-beta signaling pathway_Homo sapiens_hsa043500.44786670
123Starch and sucrose metabolism_Homo sapiens_hsa005000.44540795
124mRNA surveillance pathway_Homo sapiens_hsa030150.44118701
125Allograft rejection_Homo sapiens_hsa053300.44023356
126Fructose and mannose metabolism_Homo sapiens_hsa000510.43910855
127ABC transporters_Homo sapiens_hsa020100.43867911
128Staphylococcus aureus infection_Homo sapiens_hsa051500.39275056
129Butanoate metabolism_Homo sapiens_hsa006500.38167519
130NOD-like receptor signaling pathway_Homo sapiens_hsa046210.37999195
131Caffeine metabolism_Homo sapiens_hsa002320.37338855
132Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.37137318
133Graft-versus-host disease_Homo sapiens_hsa053320.35960364
134Galactose metabolism_Homo sapiens_hsa000520.35939004
135Sulfur metabolism_Homo sapiens_hsa009200.33466548

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