POLR2I

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 subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1viral transcription (GO:0019083)7.29134055
2ribosomal small subunit biogenesis (GO:0042274)7.24632533
3translational termination (GO:0006415)6.95134652
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.57934654
5energy coupled proton transport, down electrochemical gradient (GO:0015985)6.40496579
6ATP synthesis coupled proton transport (GO:0015986)6.40496579
7ribosomal small subunit assembly (GO:0000028)6.23865223
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)6.18745567
9cotranslational protein targeting to membrane (GO:0006613)6.13134194
10protein targeting to ER (GO:0045047)6.07403074
11translational elongation (GO:0006414)5.96925602
12maturation of SSU-rRNA (GO:0030490)5.87029974
13establishment of protein localization to endoplasmic reticulum (GO:0072599)5.76339715
14protein localization to endoplasmic reticulum (GO:0070972)5.73692486
15cellular protein complex disassembly (GO:0043624)5.51030599
16mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.44931520
17viral life cycle (GO:0019058)5.43481212
18translational initiation (GO:0006413)5.17219796
19nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.12364317
20ribosomal large subunit biogenesis (GO:0042273)5.01514002
21GTP biosynthetic process (GO:0006183)5.00861759
22protein neddylation (GO:0045116)4.84758313
23respiratory electron transport chain (GO:0022904)4.79719045
24protein complex disassembly (GO:0043241)4.76303904
25establishment of protein localization to mitochondrial membrane (GO:0090151)4.73476072
26proteasome assembly (GO:0043248)4.72410235
27chaperone-mediated protein transport (GO:0072321)4.70529256
28translation (GO:0006412)4.68488733
29electron transport chain (GO:0022900)4.67692589
30UTP biosynthetic process (GO:0006228)4.49928379
31macromolecular complex disassembly (GO:0032984)4.49699743
32* 7-methylguanosine mRNA capping (GO:0006370)4.42065571
33termination of RNA polymerase III transcription (GO:0006386)4.41445951
34transcription elongation from RNA polymerase III promoter (GO:0006385)4.41445951
35* RNA capping (GO:0036260)4.34918430
36* 7-methylguanosine RNA capping (GO:0009452)4.34918430
37guanosine-containing compound biosynthetic process (GO:1901070)4.10644124
38ribonucleoprotein complex biogenesis (GO:0022613)4.06411922
39negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.01594094
40respiratory chain complex IV assembly (GO:0008535)4.01177009
41DNA deamination (GO:0045006)3.97000512
42transcription elongation from RNA polymerase I promoter (GO:0006362)3.92546602
43protein targeting to membrane (GO:0006612)3.92071257
44termination of RNA polymerase I transcription (GO:0006363)3.89963185
45inner mitochondrial membrane organization (GO:0007007)3.86453348
46UTP metabolic process (GO:0046051)3.84966628
47cytochrome complex assembly (GO:0017004)3.83053190
48protein complex biogenesis (GO:0070271)3.80617669
49hydrogen ion transmembrane transport (GO:1902600)3.79314161
50spliceosomal snRNP assembly (GO:0000387)3.77855068
51* transcription-coupled nucleotide-excision repair (GO:0006283)3.75513458
52nuclear-transcribed mRNA catabolic process (GO:0000956)3.75229206
53mitochondrial respiratory chain complex I assembly (GO:0032981)3.74352146
54NADH dehydrogenase complex assembly (GO:0010257)3.74352146
55mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.74352146
56cellular component biogenesis (GO:0044085)3.73445651
57negative regulation of ligase activity (GO:0051352)3.69977479
58negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.69977479
59regulation of cellular amino acid metabolic process (GO:0006521)3.69621169
60spliceosomal complex assembly (GO:0000245)3.66979641
61CTP metabolic process (GO:0046036)3.66177703
62CTP biosynthetic process (GO:0006241)3.66177703
63positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.66059698
64pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.63944120
65DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.62587570
66protein targeting to mitochondrion (GO:0006626)3.61207509
67mitochondrial respiratory chain complex assembly (GO:0033108)3.60901049
68establishment of integrated proviral latency (GO:0075713)3.57819067
69purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.56863108
70regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.56711304
71DNA damage response, detection of DNA damage (GO:0042769)3.56118098
72establishment of protein localization to mitochondrion (GO:0072655)3.55168397
73mRNA catabolic process (GO:0006402)3.54650712
74intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.53587525
75signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.53587525
76transcription from RNA polymerase I promoter (GO:0006360)3.53387633
77signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.52022409
78signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.52022409
79signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.52022409
80regulation of mitochondrial translation (GO:0070129)3.49690927
81oxidative phosphorylation (GO:0006119)3.49207786
82purine nucleoside triphosphate biosynthetic process (GO:0009145)3.48634881
83pseudouridine synthesis (GO:0001522)3.48123770
84anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.45532333
85signal transduction involved in DNA integrity checkpoint (GO:0072401)3.44795971
86signal transduction involved in DNA damage checkpoint (GO:0072422)3.44795971
87pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.44731769
88rRNA processing (GO:0006364)3.43079381
89signal transduction involved in cell cycle checkpoint (GO:0072395)3.42519619
90chromatin remodeling at centromere (GO:0031055)3.40240410
91telomere maintenance via semi-conservative replication (GO:0032201)3.38837217
92rRNA modification (GO:0000154)3.38331490
93pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)3.37805495
94antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.36875251
95establishment of viral latency (GO:0019043)3.35742025
96tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.35592278
97RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.35592278
98rRNA metabolic process (GO:0016072)3.34876676
99proton transport (GO:0015992)3.33904830
100nucleoside triphosphate biosynthetic process (GO:0009142)3.32275108
101CENP-A containing nucleosome assembly (GO:0034080)3.32076334
102protein localization to mitochondrion (GO:0070585)3.28012362
103RNA catabolic process (GO:0006401)3.27687679
104hydrogen transport (GO:0006818)3.26747145
105deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.26280770
106nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.23495364
107ribonucleoside triphosphate biosynthetic process (GO:0009201)3.22346094
108intracellular protein transmembrane import (GO:0044743)3.21745966
109cullin deneddylation (GO:0010388)3.21639279
110exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.21140866
111* positive regulation of viral transcription (GO:0050434)3.20425210
112ATP biosynthetic process (GO:0006754)3.15720636
113mitochondrial transport (GO:0006839)3.15264446
114protein-cofactor linkage (GO:0018065)3.14890215
115nucleoside diphosphate phosphorylation (GO:0006165)3.13374078
116positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.12402717
117sequestering of actin monomers (GO:0042989)3.04977802
118pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.03793489
119purine nucleoside monophosphate biosynthetic process (GO:0009127)3.02371978
120purine ribonucleoside monophosphate biosynthetic process (GO:0009168)3.02371978
121positive regulation of ligase activity (GO:0051351)2.99173686

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat5.06824255
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.81189962
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.44315164
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.30237238
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.15399048
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.89783121
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.78918173
8E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.65581386
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.50888847
10HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.42824322
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.41673281
12CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.39072046
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.25324299
14* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.16107505
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.10358234
16MYC_19079543_ChIP-ChIP_MESCs_Mouse3.04823211
17* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.04817393
18E2F7_22180533_ChIP-Seq_HELA_Human2.80108662
19* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.72796103
20YY1_21170310_ChIP-Seq_MESCs_Mouse2.59025667
21VDR_23849224_ChIP-Seq_CD4+_Human2.44607868
22XRN2_22483619_ChIP-Seq_HELA_Human2.42897931
23ELF1_17652178_ChIP-ChIP_JURKAT_Human2.39578272
24THAP11_20581084_ChIP-Seq_MESCs_Mouse2.27988042
25E2F1_18555785_ChIP-Seq_MESCs_Mouse2.25191638
26DCP1A_22483619_ChIP-Seq_HELA_Human2.24779418
27TTF2_22483619_ChIP-Seq_HELA_Human2.15857553
28E2F4_17652178_ChIP-ChIP_JURKAT_Human2.12438201
29ZFP42_18358816_ChIP-ChIP_MESCs_Mouse2.06611039
30* SRF_21415370_ChIP-Seq_HL-1_Mouse2.04899066
31FOXP3_21729870_ChIP-Seq_TREG_Human2.01068962
32HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.99462438
33ELK1_19687146_ChIP-ChIP_HELA_Human1.92712811
34FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.91782368
35NELFA_20434984_ChIP-Seq_ESCs_Mouse1.90231809
36PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.88595785
37POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.84951876
38CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.83561437
39TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.80639637
40ELK1_22589737_ChIP-Seq_MCF10A_Human1.78418803
41MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.77593686
42POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.72714386
43* GABP_19822575_ChIP-Seq_HepG2_Human1.72593629
44NANOG_18555785_ChIP-Seq_MESCs_Mouse1.60184225
45NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.56605224
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.53676972
47KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.51353388
48* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.47973251
49MYC_18940864_ChIP-ChIP_HL60_Human1.42997713
50SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.38480749
51MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.37202274
52CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33784804
53HOXB4_20404135_ChIP-ChIP_EML_Mouse1.32125342
54ZNF274_21170338_ChIP-Seq_K562_Hela1.29013107
55ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.28723598
56* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.27008572
57IRF1_19129219_ChIP-ChIP_H3396_Human1.24179285
58YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.24092804
59ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.22073046
60FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.21917329
61TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.18577497
62SOX2_18555785_ChIP-Seq_MESCs_Mouse1.18303222
63SRY_22984422_ChIP-ChIP_TESTIS_Rat1.17377843
64KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.15438642
65KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.15438642
66KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.15438642
67FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.15207816
68CTCF_18555785_ChIP-Seq_MESCs_Mouse1.15111652
69CIITA_25753668_ChIP-Seq_RAJI_Human1.14776438
70VDR_22108803_ChIP-Seq_LS180_Human1.12606640
71BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.11127780
72TP63_19390658_ChIP-ChIP_HaCaT_Human1.10733199
73NANOG_16153702_ChIP-ChIP_HESCs_Human1.07489590
74E2F1_21310950_ChIP-Seq_MCF-7_Human1.06746247
75OCT4_18692474_ChIP-Seq_MEFs_Mouse1.04854849
76EWS_26573619_Chip-Seq_HEK293_Human1.04809495
77STAT1_20625510_ChIP-Seq_HELA_Human1.04486551
78CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.01955582
79SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.99365027
80SOX2_18692474_ChIP-Seq_MEFs_Mouse0.99356183
81EZH2_22144423_ChIP-Seq_EOC_Human0.98239865
82ZFX_18555785_ChIP-Seq_MESCs_Mouse0.96256438
83YY1_22570637_ChIP-Seq_MALME-3M_Human0.94227137
84POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.93190790
85PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.92218879
86POU5F1_16153702_ChIP-ChIP_HESCs_Human0.91795625
87ERG_20887958_ChIP-Seq_HPC-7_Mouse0.91478865
88NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.90590343
89CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.89442527
90* TP53_22573176_ChIP-Seq_HFKS_Human0.88434985
91PADI4_21655091_ChIP-ChIP_MCF-7_Human0.88098021
92FUS_26573619_Chip-Seq_HEK293_Human0.87398459
93CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.86576681
94SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.86548040
95HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.85481686
96STAT3_1855785_ChIP-Seq_MESCs_Mouse0.85081432
97E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.84291188
98CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.82896413
99KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.82611781
100SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.82547853
101CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.82317344
102KDM5A_27292631_Chip-Seq_BREAST_Human0.81656889
103* SOX17_20123909_ChIP-Seq_XEN_Mouse0.81632953
104MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.80895032
105HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.79435916
106BMI1_23680149_ChIP-Seq_NPCS_Mouse0.79318545
107HTT_18923047_ChIP-ChIP_STHdh_Human0.79267683
108PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.77243781
109TCF3_18692474_ChIP-Seq_MEFs_Mouse0.76679169
110SOX2_16153702_ChIP-ChIP_HESCs_Human0.75174152
111* FOXP1_21924763_ChIP-Seq_HESCs_Human0.74009584
112GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.73454488
113EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.72958467
114EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.72112985
115DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.71216512
116NANOG_18692474_ChIP-Seq_MEFs_Mouse0.70765515
117CTBP1_25329375_ChIP-Seq_LNCAP_Human0.69011575
118IGF1R_20145208_ChIP-Seq_DFB_Human0.68851787
119ERG_20517297_ChIP-Seq_VCAP_Human0.68592191
120CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.68151633

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.83462095
2MP0003693_abnormal_embryo_hatching3.96606100
3MP0002938_white_spotting3.12160213
4MP0003136_yellow_coat_color3.11354110
5MP0006292_abnormal_olfactory_placode3.02662929
6MP0002102_abnormal_ear_morphology2.94633279
7MP0003786_premature_aging2.94183445
8MP0004957_abnormal_blastocyst_morpholog2.81254089
9MP0008058_abnormal_DNA_repair2.59790560
10MP0001529_abnormal_vocalization2.57156233
11MP0008932_abnormal_embryonic_tissue2.48364496
12MP0003718_maternal_effect2.43412584
13MP0003315_abnormal_perineum_morphology2.36750599
14MP0002638_abnormal_pupillary_reflex2.00769833
15MP0003077_abnormal_cell_cycle1.97574808
16MP0010094_abnormal_chromosome_stability1.94120465
17MP0002653_abnormal_ependyma_morphology1.85521878
18MP0003186_abnormal_redox_activity1.83802326
19MP0006276_abnormal_autonomic_nervous1.83391875
20MP0001986_abnormal_taste_sensitivity1.81783744
21MP0008877_abnormal_DNA_methylation1.80925387
22MP0006036_abnormal_mitochondrial_physio1.80184943
23MP0001905_abnormal_dopamine_level1.76868648
24MP0002163_abnormal_gland_morphology1.75786223
25MP0003111_abnormal_nucleus_morphology1.73533581
26MP0003880_abnormal_central_pattern1.71450431
27MP0001984_abnormal_olfaction1.70456157
28MP0001293_anophthalmia1.69306778
29MP0003878_abnormal_ear_physiology1.67538167
30MP0005377_hearing/vestibular/ear_phenot1.67538167
31MP0002822_catalepsy1.66685844
32MP0001727_abnormal_embryo_implantation1.64602622
33MP0003806_abnormal_nucleotide_metabolis1.63740184
34MP0008789_abnormal_olfactory_epithelium1.63676708
35MP0002837_dystrophic_cardiac_calcinosis1.62320561
36MP0004133_heterotaxia1.60614265
37MP0001485_abnormal_pinna_reflex1.59768223
38MP0004381_abnormal_hair_follicle1.57554289
39MP0006035_abnormal_mitochondrial_morpho1.54828368
40MP0001346_abnormal_lacrimal_gland1.48551717
41MP0008057_abnormal_DNA_replication1.47429055
42MP0004142_abnormal_muscle_tone1.47414431
43MP0000013_abnormal_adipose_tissue1.39310800
44MP0005646_abnormal_pituitary_gland1.38635438
45MP0002277_abnormal_respiratory_mucosa1.38438677
46MP0003938_abnormal_ear_development1.36147876
47MP0002234_abnormal_pharynx_morphology1.34119165
48MP0009046_muscle_twitch1.33551632
49MP0005084_abnormal_gallbladder_morpholo1.32613974
50MP0005408_hypopigmentation1.32574126
51MP0004147_increased_porphyrin_level1.28576746
52MP0002751_abnormal_autonomic_nervous1.26421788
53MP0003011_delayed_dark_adaptation1.25322388
54MP0004742_abnormal_vestibular_system1.25222271
55MP0006072_abnormal_retinal_apoptosis1.25149582
56MP0002272_abnormal_nervous_system1.24562653
57MP0009745_abnormal_behavioral_response1.24129723
58MP0002132_abnormal_respiratory_system1.23834473
59MP0003121_genomic_imprinting1.22608470
60MP0008995_early_reproductive_senescence1.21842107
61MP0008007_abnormal_cellular_replicative1.21730300
62MP0005075_abnormal_melanosome_morpholog1.21322211
63MP0000049_abnormal_middle_ear1.19391158
64MP0005409_darkened_coat_color1.19338382
65MP0003123_paternal_imprinting1.17800574
66MP0002160_abnormal_reproductive_system1.17481931
67MP0000566_synostosis1.13813689
68MP0009333_abnormal_splenocyte_physiolog1.13453873
69MP0002210_abnormal_sex_determination1.10814780
70MP0008875_abnormal_xenobiotic_pharmacok1.09490366
71MP0010030_abnormal_orbit_morphology1.08834611
72MP0000026_abnormal_inner_ear1.06224435
73MP0002734_abnormal_mechanical_nocicepti1.06116694
74MP0005379_endocrine/exocrine_gland_phen1.05479405
75MP0008872_abnormal_physiological_respon1.03925796
76MP0003122_maternal_imprinting1.03166779
77MP0005645_abnormal_hypothalamus_physiol1.02721793
78MP0005499_abnormal_olfactory_system1.02289967
79MP0005394_taste/olfaction_phenotype1.02289967
80MP0003787_abnormal_imprinting1.02177322
81MP0000372_irregular_coat_pigmentation1.00148251
82MP0001486_abnormal_startle_reflex0.97760193
83MP0002736_abnormal_nociception_after0.96138192
84MP0001968_abnormal_touch/_nociception0.96018724
85MP0002064_seizures0.91825107
86MP0000631_abnormal_neuroendocrine_gland0.90689781
87MP0005253_abnormal_eye_physiology0.90505640
88MP0001188_hyperpigmentation0.90366256
89MP0009250_abnormal_appendicular_skeleto0.90210776
90MP0002557_abnormal_social/conspecific_i0.90129208
91MP0002735_abnormal_chemical_nociception0.89973867
92MP0001145_abnormal_male_reproductive0.89168096
93MP0002233_abnormal_nose_morphology0.88576822
94MP0003283_abnormal_digestive_organ0.87177175
95MP0002095_abnormal_skin_pigmentation0.85631957
96MP0005389_reproductive_system_phenotype0.81542206
97MP0002572_abnormal_emotion/affect_behav0.81154134
98MP0003937_abnormal_limbs/digits/tail_de0.80987516
99MP0005551_abnormal_eye_electrophysiolog0.80430509
100MP0002752_abnormal_somatic_nervous0.79322634
101MP0000653_abnormal_sex_gland0.78531977
102MP0001970_abnormal_pain_threshold0.77961287
103MP0003646_muscle_fatigue0.76593531
104MP0005174_abnormal_tail_pigmentation0.75760898
105MP0001764_abnormal_homeostasis0.74386442
106MP0001963_abnormal_hearing_physiology0.74315336
107MP0004145_abnormal_muscle_electrophysio0.73772307
108MP0002282_abnormal_trachea_morphology0.73633621
109MP0003119_abnormal_digestive_system0.73354235
110MP0005423_abnormal_somatic_nervous0.73339331
111MP0003890_abnormal_embryonic-extraembry0.72517206
112MP0005636_abnormal_mineral_homeostasis0.72246892
113MP0001929_abnormal_gametogenesis0.72150809
114MP0003941_abnormal_skin_development0.70357243
115MP0009697_abnormal_copulation0.70115104
116MP0008260_abnormal_autophagy0.70031584
117MP0000749_muscle_degeneration0.69989738
118MP0000350_abnormal_cell_proliferation0.68811972
119MP0000762_abnormal_tongue_morphology0.68786716
120MP0005501_abnormal_skin_physiology0.68238014
121MP0001919_abnormal_reproductive_system0.65708236
122MP0000313_abnormal_cell_death0.65427481
123MP0000750_abnormal_muscle_regeneration0.64683371
124MP0003698_abnormal_male_reproductive0.64131902
125MP0002127_abnormal_cardiovascular_syste0.59659915
126MP0000613_abnormal_salivary_gland0.58857525
127MP0002148_abnormal_hypersensitivity_rea0.57624548
128MP0000015_abnormal_ear_pigmentation0.57610651
129MP0003879_abnormal_hair_cell0.57131194

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.90268555
2Abnormality of cells of the erythroid lineage (HP:0012130)5.85514412
3Mitochondrial inheritance (HP:0001427)5.20915330
4Abnormal mitochondria in muscle tissue (HP:0008316)5.17827555
5Reticulocytopenia (HP:0001896)5.12711399
6Abnormal number of erythroid precursors (HP:0012131)5.09913886
7Progressive macrocephaly (HP:0004481)5.03963675
8Renal Fanconi syndrome (HP:0001994)4.76038495
9Acute encephalopathy (HP:0006846)4.71722051
10Congenital nonbullous ichthyosiform erythroderma (HP:0007479)4.67330034
11Increased hepatocellular lipid droplets (HP:0006565)4.63762299
12Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.47683312
13Increased CSF lactate (HP:0002490)4.38997708
14Macrocytic anemia (HP:0001972)4.33291730
15Muscle abnormality related to mitochondrial dysfunction (HP:0003800)4.23072172
16Hepatocellular necrosis (HP:0001404)4.17161309
173-Methylglutaconic aciduria (HP:0003535)4.16229063
18Lipid accumulation in hepatocytes (HP:0006561)4.02677418
19Decreased activity of mitochondrial respiratory chain (HP:0008972)3.91274547
20Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.91274547
21Hepatic necrosis (HP:0002605)3.69987470
22Pallor (HP:0000980)3.67238408
23Cerebral edema (HP:0002181)3.36470308
24Increased intramyocellular lipid droplets (HP:0012240)3.27711038
25Exertional dyspnea (HP:0002875)3.25755805
26Exercise intolerance (HP:0003546)3.23757267
27Congenital ichthyosiform erythroderma (HP:0007431)3.13441754
28Respiratory failure (HP:0002878)3.09740627
29Abnormality of renal resorption (HP:0011038)3.05970912
30Optic disc pallor (HP:0000543)3.05615031
31Increased serum lactate (HP:0002151)3.01736690
32Lactic acidosis (HP:0003128)2.84965738
33Leukodystrophy (HP:0002415)2.80521448
34Pancreatic fibrosis (HP:0100732)2.74614468
35Aplasia/Hypoplasia of the sacrum (HP:0008517)2.70060562
36Increased muscle lipid content (HP:0009058)2.63310593
37Colon cancer (HP:0003003)2.60380951
38Respiratory difficulties (HP:0002880)2.57015116
39Abnormal sex determination (HP:0012244)2.55919698
40Sex reversal (HP:0012245)2.55919698
41Pancreatic cysts (HP:0001737)2.54932425
42True hermaphroditism (HP:0010459)2.52262404
43Cerebral hypomyelination (HP:0006808)2.52187870
44Abnormality of midbrain morphology (HP:0002418)2.47744164
45Molar tooth sign on MRI (HP:0002419)2.47744164
46Fragile nails (HP:0001808)2.38704785
47Parakeratosis (HP:0001036)2.35860058
48Abnormality of urine glucose concentration (HP:0011016)2.35637747
49Glycosuria (HP:0003076)2.35637747
50Myokymia (HP:0002411)2.35533708
51Septo-optic dysplasia (HP:0100842)2.30044023
52Increased serum pyruvate (HP:0003542)2.29008270
53Abnormality of glycolysis (HP:0004366)2.29008270
54Poikiloderma (HP:0001029)2.27796573
55Methylmalonic aciduria (HP:0012120)2.26395707
56Breast hypoplasia (HP:0003187)2.26392673
57Abnormality of the labia minora (HP:0012880)2.23473340
58Concave nail (HP:0001598)2.23463051
59Absent thumb (HP:0009777)2.21188887
60Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.20937353
61Erythroderma (HP:0001019)2.20645380
62Methylmalonic acidemia (HP:0002912)2.19506294
63Abnormal respiratory motile cilium physiology (HP:0012261)2.16156607
64Medial flaring of the eyebrow (HP:0010747)2.15468798
65Microvesicular hepatic steatosis (HP:0001414)2.14917881
66Hyperphosphaturia (HP:0003109)2.12794052
67Abnormality of DNA repair (HP:0003254)2.12702060
68Nephronophthisis (HP:0000090)2.11407764
69Sclerocornea (HP:0000647)2.07151264
70Abnormality of the axillary hair (HP:0100134)2.05509339
71Abnormality of secondary sexual hair (HP:0009888)2.05509339
72Hyperglycinemia (HP:0002154)2.05508438
73Triphalangeal thumb (HP:0001199)2.05350381
74Abnormal ciliary motility (HP:0012262)2.03597525
75Birth length less than 3rd percentile (HP:0003561)2.02121401
76Hypoplasia of the radius (HP:0002984)2.02101710
77Type I transferrin isoform profile (HP:0003642)2.01469993
78CNS demyelination (HP:0007305)2.01016531
79Rough bone trabeculation (HP:0100670)2.00208982
80Aplasia/hypoplasia of the uterus (HP:0008684)1.98282583
81Horseshoe kidney (HP:0000085)1.97443798
82Patellar aplasia (HP:0006443)1.96979849
83Abnormal respiratory motile cilium morphology (HP:0005938)1.95395905
84Abnormal respiratory epithelium morphology (HP:0012253)1.95395905
85Oral leukoplakia (HP:0002745)1.94888778
86Abnormal hemoglobin (HP:0011902)1.93226172
87Carpal bone hypoplasia (HP:0001498)1.92740937
88Congenital, generalized hypertrichosis (HP:0004540)1.92487343
89Aplasia/Hypoplasia of the patella (HP:0006498)1.92385488
90Aplastic anemia (HP:0001915)1.91501870
91Degeneration of anterior horn cells (HP:0002398)1.90749952
92Abnormality of the anterior horn cell (HP:0006802)1.90749952
93Secondary amenorrhea (HP:0000869)1.90695419
94Entropion (HP:0000621)1.88242312
95Stenosis of the external auditory canal (HP:0000402)1.87075336
96Emotional lability (HP:0000712)1.86959628
97Decreased subcutaneous fat (HP:0001002)1.86026735
98Testicular atrophy (HP:0000029)1.85941782
99Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.85706061
100Lethargy (HP:0001254)1.84039635
101Pancytopenia (HP:0001876)1.82898918
102Rhinitis (HP:0012384)1.82265129
103Septate vagina (HP:0001153)1.77612722
104Absent septum pellucidum (HP:0001331)1.77427367
105Absent radius (HP:0003974)1.76177725
106Brittle hair (HP:0002299)1.75090446
107Amniotic constriction ring (HP:0009775)1.74771611
108Abnormality of placental membranes (HP:0011409)1.74771611
109Pendular nystagmus (HP:0012043)1.74195212
110Duplicated collecting system (HP:0000081)1.74152723
111Partial duplication of thumb phalanx (HP:0009944)1.74015351
112Abnormal protein glycosylation (HP:0012346)1.73231671
113Abnormal glycosylation (HP:0012345)1.73231671
114Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.73231671
115Abnormal protein N-linked glycosylation (HP:0012347)1.73231671
116Anencephaly (HP:0002323)1.73131155
117Abnormal pupillary function (HP:0007686)1.72273399
118Gait imbalance (HP:0002141)1.72208366
119Blindness (HP:0000618)1.72208272
120Depressed nasal ridge (HP:0000457)1.72076202
121Generalized aminoaciduria (HP:0002909)1.71656685
122Abnormal urine phosphate concentration (HP:0012599)1.71485585
123Progressive external ophthalmoplegia (HP:0000590)1.70204997
124Congenital primary aphakia (HP:0007707)1.69529041
125Abnormality of the septum pellucidum (HP:0007375)1.68890386
126Cleft eyelid (HP:0000625)1.66370609
127Poor suck (HP:0002033)1.63836445
128Absent forearm bone (HP:0003953)1.62814045
129Aplasia involving forearm bones (HP:0009822)1.62814045
130X-linked dominant inheritance (HP:0001423)1.61606740
131Meckel diverticulum (HP:0002245)1.60639175
132Anophthalmia (HP:0000528)1.59744855
133Abnormality of the preputium (HP:0100587)1.59091720
134Male pseudohermaphroditism (HP:0000037)1.58752984
135Aplasia/Hypoplasia involving the musculature (HP:0001460)1.58649470
136Nephrogenic diabetes insipidus (HP:0009806)1.57910337
137Dicarboxylic aciduria (HP:0003215)1.56705283
138Abnormality of dicarboxylic acid metabolism (HP:0010995)1.56705283
139Dynein arm defect of respiratory motile cilia (HP:0012255)1.56091989
140Absent/shortened dynein arms (HP:0200106)1.56091989
141CNS hypomyelination (HP:0003429)1.56080777
142Abnormality of the ileum (HP:0001549)1.55844857

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK26.00296023
2BUB14.64584291
3NME24.62447756
4STK164.40014617
5NME12.95145591
6SRPK12.80830838
7WEE12.75236924
8TLK12.47290222
9IRAK22.33198032
10BRAF2.30284062
11PIM22.21648479
12VRK12.20544954
13CASK2.04092366
14EIF2AK11.95516864
15NUAK11.92790304
16MAP4K21.81070979
17PLK41.79841326
18DYRK21.76420122
19TAF11.64507566
20TESK21.63291906
21ARAF1.62072529
22EIF2AK31.50936367
23PBK1.50145649
24ABL21.49183711
25NEK11.45253870
26MKNK21.44390827
27DYRK31.43810535
28MKNK11.40611190
29PNCK1.40187576
30TNK21.38685490
31TRIM281.24984228
32MAP3K121.21479388
33CSNK1G11.19618240
34MAP2K71.17259126
35CSNK1G21.15740062
36MST41.14379011
37LIMK11.13920023
38ACVR1B1.12439930
39CDK81.09115713
40AURKA1.07315292
41PLK11.05622354
42MUSK1.05055108
43MYLK1.03028098
44GRK71.02944869
45ADRBK21.01980303
46IRAK31.01444359
47BMPR1B1.01365798
48TSSK60.99371613
49GRK50.95831485
50EPHA40.91455831
51MAP3K40.90702895
52MARK10.90091522
53CSNK1A1L0.89815702
54CDK70.89782140
55RPS6KA50.89324646
56BRSK20.88476065
57RPS6KB20.87296606
58MAP2K20.85459634
59ILK0.83718234
60PINK10.83362415
61ZAK0.83114038
62PRKCG0.83042116
63CSNK2A10.82701243
64CDK190.81105803
65PLK30.80105674
66PHKG20.79843961
67PHKG10.79843961
68BCKDK0.78065285
69DAPK10.77743597
70PDK20.77713102
71AURKB0.77036506
72BMPR20.75222331
73TNIK0.75033673
74EPHA20.74371603
75PRKCI0.74116841
76CSNK2A20.71575809
77PASK0.71248208
78EIF2AK20.71180031
79INSRR0.69160400
80IRAK40.68277710
81CHEK20.67209392
82YES10.65264738
83TESK10.64770162
84AKT30.64068384
85MINK10.62874409
86TTK0.62632790
87MAPK130.62339227
88CCNB10.61726963
89OBSCN0.61390120
90KDR0.60509588
91TGFBR10.60242096
92CDC70.59870775
93PAK10.59479815
94CAMK2B0.58040753
95BCR0.56927007
96PLK20.56899180
97GRK10.50967666
98RPS6KA40.50828832
99PRPF4B0.50119384
100STK40.49592922
101DAPK30.48669578
102MAP3K110.48316444
103BLK0.48314832
104BRSK10.44839339
105TAOK20.43906571
106UHMK10.43809380
107STK390.43619047
108CSNK1E0.43295218
109EPHB20.42485947
110MAPKAPK50.41330521
111IRAK10.41219646
112OXSR10.40921192
113CSNK1G30.40459542
114CSNK1A10.40289219
115MAPK150.38932401
116LRRK20.37139897
117CAMK2A0.36822727
118WNK40.36818139
119PAK30.36058494
120CAMK10.35873452
121ADRBK10.35450818
122ATR0.34676001
123MST1R0.34418030
124CAMK2G0.33774905
125MAPK40.31353253
126PRKACA0.28462093
127TEC0.28442110
128IKBKB0.26926604
129WNK30.26801555
130CAMK2D0.26088757

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030106.10977407
2Oxidative phosphorylation_Homo sapiens_hsa001904.50921558
3Proteasome_Homo sapiens_hsa030504.37190383
4Parkinsons disease_Homo sapiens_hsa050123.88759236
5* RNA polymerase_Homo sapiens_hsa030203.75059932
6Huntingtons disease_Homo sapiens_hsa050163.03695387
7DNA replication_Homo sapiens_hsa030302.86497948
8Alzheimers disease_Homo sapiens_hsa050102.75720040
9Protein export_Homo sapiens_hsa030602.71135200
10Mismatch repair_Homo sapiens_hsa034302.64677149
11Nucleotide excision repair_Homo sapiens_hsa034202.58298909
12Spliceosome_Homo sapiens_hsa030402.55585675
13* Pyrimidine metabolism_Homo sapiens_hsa002402.47939280
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.38667948
15Homologous recombination_Homo sapiens_hsa034402.20477729
16Basal transcription factors_Homo sapiens_hsa030222.12589974
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.04328945
18Base excision repair_Homo sapiens_hsa034101.71230157
19Cardiac muscle contraction_Homo sapiens_hsa042601.63625411
20RNA transport_Homo sapiens_hsa030131.54841284
21Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.45023976
22Fanconi anemia pathway_Homo sapiens_hsa034601.40562258
23* Purine metabolism_Homo sapiens_hsa002301.32192428
24Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.32066246
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.24015707
26RNA degradation_Homo sapiens_hsa030181.15640804
27Folate biosynthesis_Homo sapiens_hsa007901.13526779
28One carbon pool by folate_Homo sapiens_hsa006701.00423108
29Glutathione metabolism_Homo sapiens_hsa004800.96043879
30Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.89954818
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.88403697
32Arachidonic acid metabolism_Homo sapiens_hsa005900.88343017
33Sulfur relay system_Homo sapiens_hsa041220.87415309
34Phototransduction_Homo sapiens_hsa047440.86538290
35Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.81035424
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.80359883
37Linoleic acid metabolism_Homo sapiens_hsa005910.79956646
38Cell cycle_Homo sapiens_hsa041100.77955852
39* Metabolic pathways_Homo sapiens_hsa011000.76979657
40Vitamin B6 metabolism_Homo sapiens_hsa007500.76005692
41Butanoate metabolism_Homo sapiens_hsa006500.75889192
42Fatty acid elongation_Homo sapiens_hsa000620.75531345
43Non-homologous end-joining_Homo sapiens_hsa034500.75126606
44Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.74722343
45Drug metabolism - other enzymes_Homo sapiens_hsa009830.74422834
462-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.73008517
47Nicotine addiction_Homo sapiens_hsa050330.68217077
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.67395279
49Cysteine and methionine metabolism_Homo sapiens_hsa002700.61880067
50SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61561811
51Systemic lupus erythematosus_Homo sapiens_hsa053220.61372191
52Selenocompound metabolism_Homo sapiens_hsa004500.59789510
53* Epstein-Barr virus infection_Homo sapiens_hsa051690.59348278
54Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.58853625
55Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57715802
56alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.56725228
57Sulfur metabolism_Homo sapiens_hsa009200.55385895
58Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54286182
59Collecting duct acid secretion_Homo sapiens_hsa049660.54229457
60Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.51998283
61Phenylalanine metabolism_Homo sapiens_hsa003600.47468829
62Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.47433603
63Nitrogen metabolism_Homo sapiens_hsa009100.46516029
64mRNA surveillance pathway_Homo sapiens_hsa030150.46298988
65Tryptophan metabolism_Homo sapiens_hsa003800.46052276
66Tyrosine metabolism_Homo sapiens_hsa003500.45367259
67Ether lipid metabolism_Homo sapiens_hsa005650.45059153
68Regulation of autophagy_Homo sapiens_hsa041400.44928265
69Basal cell carcinoma_Homo sapiens_hsa052170.44055154
70Cyanoamino acid metabolism_Homo sapiens_hsa004600.41337237
71Chemical carcinogenesis_Homo sapiens_hsa052040.41135151
72Primary bile acid biosynthesis_Homo sapiens_hsa001200.39589738
73Synaptic vesicle cycle_Homo sapiens_hsa047210.39310784
74Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.38329704
75Graft-versus-host disease_Homo sapiens_hsa053320.37974352
76Arginine and proline metabolism_Homo sapiens_hsa003300.37891318
77Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.36692029
78Sphingolipid metabolism_Homo sapiens_hsa006000.35079442
79Caffeine metabolism_Homo sapiens_hsa002320.35042791
80Fructose and mannose metabolism_Homo sapiens_hsa000510.34670623
81Steroid biosynthesis_Homo sapiens_hsa001000.33435863
82Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33135529
83p53 signaling pathway_Homo sapiens_hsa041150.33091645
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.32309699
85Retinol metabolism_Homo sapiens_hsa008300.31325198
86N-Glycan biosynthesis_Homo sapiens_hsa005100.28430083
87Vitamin digestion and absorption_Homo sapiens_hsa049770.28375601
88Vibrio cholerae infection_Homo sapiens_hsa051100.27059282
89Fatty acid metabolism_Homo sapiens_hsa012120.27043912
90Pentose phosphate pathway_Homo sapiens_hsa000300.26409374
91Maturity onset diabetes of the young_Homo sapiens_hsa049500.24389903
92Steroid hormone biosynthesis_Homo sapiens_hsa001400.23790501
93Pyruvate metabolism_Homo sapiens_hsa006200.23636123
94Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.23463448
95Carbon metabolism_Homo sapiens_hsa012000.22927283
96Allograft rejection_Homo sapiens_hsa053300.22791487
97Fatty acid degradation_Homo sapiens_hsa000710.22666994
98Peroxisome_Homo sapiens_hsa041460.21579496
99Olfactory transduction_Homo sapiens_hsa047400.20626132
100Taste transduction_Homo sapiens_hsa047420.19059010
101Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.19027693
102Autoimmune thyroid disease_Homo sapiens_hsa053200.18725701
103Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.18002448
104Histidine metabolism_Homo sapiens_hsa003400.16847322
105Alcoholism_Homo sapiens_hsa050340.16752086
106Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.16378908
107Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.16307497
108Galactose metabolism_Homo sapiens_hsa000520.13015151
109Propanoate metabolism_Homo sapiens_hsa006400.12152651
110Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.10940845
111Biosynthesis of amino acids_Homo sapiens_hsa012300.10557162
112Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.10298275
113Rheumatoid arthritis_Homo sapiens_hsa053230.09487811
114Hedgehog signaling pathway_Homo sapiens_hsa043400.05671879
115Oocyte meiosis_Homo sapiens_hsa041140.05644831
116Asthma_Homo sapiens_hsa053100.05632333
117beta-Alanine metabolism_Homo sapiens_hsa004100.04576183
118Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.02613201
119Antigen processing and presentation_Homo sapiens_hsa046120.02173503
120Pentose and glucuronate interconversions_Homo sapiens_hsa000400.01537860

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