POLR2H

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 three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.69556187
2ribosomal small subunit assembly (GO:0000028)5.65512402
3DNA deamination (GO:0045006)5.46506883
4maturation of SSU-rRNA (GO:0030490)5.38493501
5ribosomal small subunit biogenesis (GO:0042274)4.99553840
6viral transcription (GO:0019083)4.92605539
7energy coupled proton transport, down electrochemical gradient (GO:0015985)4.91739426
8ATP synthesis coupled proton transport (GO:0015986)4.91739426
9translational termination (GO:0006415)4.83664623
10proteasome assembly (GO:0043248)4.77866055
11ribosomal large subunit biogenesis (GO:0042273)4.63870418
12nucleobase biosynthetic process (GO:0046112)4.62371933
13purine nucleobase biosynthetic process (GO:0009113)4.57596397
14ribonucleoprotein complex biogenesis (GO:0022613)4.50232637
15formation of translation preinitiation complex (GO:0001731)4.44242014
16chaperone-mediated protein transport (GO:0072321)4.42466771
17DNA strand elongation involved in DNA replication (GO:0006271)4.37834174
18translational elongation (GO:0006414)4.35268481
19ribosome biogenesis (GO:0042254)4.33481717
20telomere maintenance via semi-conservative replication (GO:0032201)4.29267308
21translational initiation (GO:0006413)4.23448229
22SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.20605827
23DNA strand elongation (GO:0022616)4.15549867
24cotranslational protein targeting to membrane (GO:0006613)4.12501507
25DNA replication initiation (GO:0006270)4.12227685
26DNA replication checkpoint (GO:0000076)4.11349440
27protein targeting to ER (GO:0045047)4.08661729
28spliceosomal snRNP assembly (GO:0000387)4.00901380
29rRNA modification (GO:0000154)3.98890233
30rRNA processing (GO:0006364)3.98697635
31mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.98276050
32* termination of RNA polymerase III transcription (GO:0006386)3.97419702
33* transcription elongation from RNA polymerase III promoter (GO:0006385)3.97419702
34ribosome assembly (GO:0042255)3.96904304
35pseudouridine synthesis (GO:0001522)3.96135527
36nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.94476247
37negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.93114062
38CENP-A containing nucleosome assembly (GO:0034080)3.92880419
39protein localization to endoplasmic reticulum (GO:0070972)3.89751177
40respiratory electron transport chain (GO:0022904)3.89502046
41establishment of protein localization to endoplasmic reticulum (GO:0072599)3.87384544
42cellular protein complex disassembly (GO:0043624)3.84751565
43telomere maintenance via recombination (GO:0000722)3.84657115
44rRNA metabolic process (GO:0016072)3.84607108
45electron transport chain (GO:0022900)3.81609888
46viral life cycle (GO:0019058)3.80515976
47chromatin remodeling at centromere (GO:0031055)3.79451860
48mitotic metaphase plate congression (GO:0007080)3.77564534
49positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.75859127
50regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.74050179
51translation (GO:0006412)3.73088986
52cellular component biogenesis (GO:0044085)3.72838302
53protein complex biogenesis (GO:0070271)3.71110416
54anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.70681678
55mitochondrial respiratory chain complex assembly (GO:0033108)3.69262386
56spliceosomal complex assembly (GO:0000245)3.62709265
57* 7-methylguanosine mRNA capping (GO:0006370)3.61959419
58negative regulation of ligase activity (GO:0051352)3.58084721
59negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.58084721
60establishment of integrated proviral latency (GO:0075713)3.57594562
61deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.56361064
62* RNA capping (GO:0036260)3.56045645
63* 7-methylguanosine RNA capping (GO:0009452)3.56045645
64mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.53418245
65mitochondrial respiratory chain complex I assembly (GO:0032981)3.53418245
66NADH dehydrogenase complex assembly (GO:0010257)3.53418245
67* transcription-coupled nucleotide-excision repair (GO:0006283)3.51131809
68mitotic recombination (GO:0006312)3.50547213
69DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.44420134
70telomere maintenance via telomere lengthening (GO:0010833)3.44136520
71exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.43713678
72DNA replication-independent nucleosome organization (GO:0034724)3.41734090
73DNA replication-independent nucleosome assembly (GO:0006336)3.41734090
74signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.39940458
75signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.39940458
76signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.39940458
77protein complex disassembly (GO:0043241)3.39921981
78intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.39550155
79signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.39550155
80protein targeting to mitochondrion (GO:0006626)3.36904689
81regulation of cellular amino acid metabolic process (GO:0006521)3.36502655
82establishment of viral latency (GO:0019043)3.35873451
83cullin deneddylation (GO:0010388)3.34660538
84signal transduction involved in DNA damage checkpoint (GO:0072422)3.33885901
85signal transduction involved in DNA integrity checkpoint (GO:0072401)3.33885901
86nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.33884725
87viral mRNA export from host cell nucleus (GO:0046784)3.33378014
88signal transduction involved in cell cycle checkpoint (GO:0072395)3.30104125
89positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.30058034
90* transcription from RNA polymerase I promoter (GO:0006360)3.28213106
91nucleotide-excision repair, DNA gap filling (GO:0006297)3.28188763
92macromolecular complex disassembly (GO:0032984)3.27399355
93metaphase plate congression (GO:0051310)3.25505669
94nuclear-transcribed mRNA catabolic process (GO:0000956)3.25028925
95* termination of RNA polymerase I transcription (GO:0006363)3.24819912
96* transcription elongation from RNA polymerase I promoter (GO:0006362)3.23485251
97establishment of protein localization to mitochondrial membrane (GO:0090151)3.23346530
98kinetochore assembly (GO:0051382)3.22727981
99histone exchange (GO:0043486)3.21244654
100G1/S transition of mitotic cell cycle (GO:0000082)3.21106873
101cell cycle G1/S phase transition (GO:0044843)3.21106873
102protein deneddylation (GO:0000338)3.20703270
103maturation of 5.8S rRNA (GO:0000460)3.20014641
104L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.18552933
105regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.18167370
106rRNA methylation (GO:0031167)3.17607962
107regulation of mitochondrial translation (GO:0070129)3.17463270
108respiratory chain complex IV assembly (GO:0008535)3.17221620
109kinetochore organization (GO:0051383)3.16267602
110positive regulation of ligase activity (GO:0051351)3.15809120
111regulation of ubiquitin-protein transferase activity (GO:0051438)3.14736442
112oxidative phosphorylation (GO:0006119)3.14485500
113establishment of protein localization to mitochondrion (GO:0072655)3.13931803
114IMP biosynthetic process (GO:0006188)3.13205652
115protein localization to mitochondrion (GO:0070585)3.09470895
116mRNA catabolic process (GO:0006402)3.08733368
117ncRNA processing (GO:0034470)3.08343891
118DNA unwinding involved in DNA replication (GO:0006268)3.07870587
119protein localization to kinetochore (GO:0034501)3.05181676
120regulation of ligase activity (GO:0051340)3.02943931
121inner mitochondrial membrane organization (GO:0007007)2.97494622
122cytochrome complex assembly (GO:0017004)2.96437211
123DNA damage response, detection of DNA damage (GO:0042769)2.90284021

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.79824824
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.77696163
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.15642835
4* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.83797150
5* EST1_17652178_ChIP-ChIP_JURKAT_Human3.73181660
6* GABP_17652178_ChIP-ChIP_JURKAT_Human3.72516677
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.65978892
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.50386412
9MYC_19079543_ChIP-ChIP_MESCs_Mouse3.25255427
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.22330687
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.22177115
12* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.21907930
13* E2F4_17652178_ChIP-ChIP_JURKAT_Human3.16265675
14* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.08904048
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.04509836
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.72198904
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.71536027
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.71455205
19SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.64613887
20VDR_23849224_ChIP-Seq_CD4+_Human2.60118652
21* XRN2_22483619_ChIP-Seq_HELA_Human2.58151405
22* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.54723411
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.49409248
24NELFA_20434984_ChIP-Seq_ESCs_Mouse2.48109916
25ELF1_17652178_ChIP-ChIP_JURKAT_Human2.39097894
26E2F1_18555785_ChIP-Seq_MESCs_Mouse2.30513395
27DCP1A_22483619_ChIP-Seq_HELA_Human2.28895759
28FOXP3_21729870_ChIP-Seq_TREG_Human2.23115948
29CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.22085843
30THAP11_20581084_ChIP-Seq_MESCs_Mouse2.16338620
31TTF2_22483619_ChIP-Seq_HELA_Human2.10079491
32GABP_19822575_ChIP-Seq_HepG2_Human2.08644292
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.05577706
34ELK1_19687146_ChIP-ChIP_HELA_Human1.97020019
35YY1_21170310_ChIP-Seq_MESCs_Mouse1.96202142
36MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.92166779
37SRF_21415370_ChIP-Seq_HL-1_Mouse1.91197713
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.89135830
39MYCN_18555785_ChIP-Seq_MESCs_Mouse1.85665087
40FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.85202555
41* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.82685598
42SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.80486621
43YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.76764065
44ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.72446738
45NANOG_18555785_ChIP-Seq_MESCs_Mouse1.66550450
46AR_21909140_ChIP-Seq_LNCAP_Human1.66232892
47MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.65619218
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.62812964
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.60483648
50TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.59483945
51PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.58499234
52CIITA_25753668_ChIP-Seq_RAJI_Human1.53431110
53ZFX_18555785_ChIP-Seq_MESCs_Mouse1.51346600
54* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.42145219
55POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.40942684
56FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.39614877
57ERG_20887958_ChIP-Seq_HPC-7_Mouse1.33063960
58NOTCH1_21737748_ChIP-Seq_TLL_Human1.32813034
59KDM5A_27292631_Chip-Seq_BREAST_Human1.32221783
60* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.27894152
61KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.27464340
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.25795117
63ELK1_22589737_ChIP-Seq_MCF10A_Human1.25263166
64ESR1_15608294_ChIP-ChIP_MCF-7_Human1.23830329
65RBPJ_22232070_ChIP-Seq_NCS_Mouse1.22394838
66CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.20900191
67* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.20868593
68ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.19081885
69TP63_19390658_ChIP-ChIP_HaCaT_Human1.18744950
70MYC_18940864_ChIP-ChIP_HL60_Human1.17920670
71TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.16657332
72* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.15021845
73POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.13591995
74KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.13564377
75STAT3_1855785_ChIP-Seq_MESCs_Mouse1.12780948
76HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.09819528
77BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.09088960
78SOX2_18555785_ChIP-Seq_MESCs_Mouse1.06539636
79ZNF263_19887448_ChIP-Seq_K562_Human1.05599369
80* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.02725672
81KLF4_18555785_ChIP-Seq_MESCs_Mouse1.00702554
82E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.98889456
83TFEB_21752829_ChIP-Seq_HELA_Human0.96875877
84SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.94802024
85NANOG_16153702_ChIP-ChIP_HESCs_Human0.91860109
86ELF5_23300383_ChIP-Seq_T47D_Human0.91826242
87SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.90924179
88ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.89828209
89* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.89480334
90* SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.88890640
91* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88841379
92SOX2_16153702_ChIP-ChIP_HESCs_Human0.87642895
93* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.86217819
94PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.84114219
95ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.83654461
96SPI1_23547873_ChIP-Seq_NB4_Human0.82400256
97CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.81665798
98* FOXP1_21924763_ChIP-Seq_HESCs_Human0.79689580
99SOX2_18692474_ChIP-Seq_MEFs_Mouse0.77905229
100OCT4_18692474_ChIP-Seq_MEFs_Mouse0.77642895
101HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.77140168
102* CTCF_18555785_ChIP-Seq_MESCs_Mouse0.76791213
103SOX17_20123909_ChIP-Seq_XEN_Mouse0.76534186
104KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.76444882
105NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.76440001
106* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75688436
107DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.75344583
108CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.75093512
109TBX5_21415370_ChIP-Seq_HL-1_Mouse0.73297514
110IRF1_19129219_ChIP-ChIP_H3396_Human0.71071324
111TCF3_18692474_ChIP-Seq_MEFs_Mouse0.69904788
112CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.69438175
113SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.68606831

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.11752578
2MP0004957_abnormal_blastocyst_morpholog4.72992397
3MP0010094_abnormal_chromosome_stability4.48819463
4MP0003111_abnormal_nucleus_morphology4.32570113
5MP0003077_abnormal_cell_cycle4.01560678
6MP0008058_abnormal_DNA_repair3.89308033
7MP0008057_abnormal_DNA_replication3.75957993
8MP0008007_abnormal_cellular_replicative3.11719980
9MP0008932_abnormal_embryonic_tissue2.85805188
10MP0003786_premature_aging2.67672194
11MP0003123_paternal_imprinting2.64220185
12MP0009379_abnormal_foot_pigmentation2.56054214
13MP0006292_abnormal_olfactory_placode2.38664032
14MP0003718_maternal_effect2.35508186
15MP0008877_abnormal_DNA_methylation2.20448629
16MP0002396_abnormal_hematopoietic_system2.15361107
17MP0001730_embryonic_growth_arrest2.07361889
18MP0000350_abnormal_cell_proliferation1.95775684
19MP0003315_abnormal_perineum_morphology1.74468130
20MP0003186_abnormal_redox_activity1.74268333
21MP0000490_abnormal_crypts_of1.53649621
22MP0010030_abnormal_orbit_morphology1.49175281
23MP0000313_abnormal_cell_death1.47089904
24MP0001697_abnormal_embryo_size1.46077625
25MP0001672_abnormal_embryogenesis/_devel1.45418760
26MP0005380_embryogenesis_phenotype1.45418760
27MP0002160_abnormal_reproductive_system1.44585841
28MP0002132_abnormal_respiratory_system1.43066015
29MP0003806_abnormal_nucleotide_metabolis1.40884259
30MP0002080_prenatal_lethality1.40106526
31MP0009333_abnormal_splenocyte_physiolog1.38300441
32MP0005408_hypopigmentation1.36543136
33MP0006036_abnormal_mitochondrial_physio1.32603942
34MP0002102_abnormal_ear_morphology1.32070153
35MP0006035_abnormal_mitochondrial_morpho1.31723649
36MP0008875_abnormal_xenobiotic_pharmacok1.30294000
37MP0003136_yellow_coat_color1.29983290
38MP0003567_abnormal_fetal_cardiomyocyte1.29272815
39MP0003984_embryonic_growth_retardation1.24718914
40MP0005501_abnormal_skin_physiology1.24364199
41MP0002085_abnormal_embryonic_tissue1.23548095
42MP0002210_abnormal_sex_determination1.22110693
43MP0002088_abnormal_embryonic_growth/wei1.21078717
44MP0001293_anophthalmia1.19867975
45MP0002019_abnormal_tumor_incidence1.18241972
46MP0002938_white_spotting1.17595206
47MP0003890_abnormal_embryonic-extraembry1.16253672
48MP0005389_reproductive_system_phenotype1.14313551
49MP0001881_abnormal_mammary_gland1.13948937
50MP0004808_abnormal_hematopoietic_stem1.11080846
51MP0001529_abnormal_vocalization1.08799615
52MP0001853_heart_inflammation1.08337328
53MP0000647_abnormal_sebaceous_gland1.07714665
54MP0003121_genomic_imprinting1.07703102
55MP0001145_abnormal_male_reproductive1.07041778
56MP0002736_abnormal_nociception_after1.06779245
57MP0001545_abnormal_hematopoietic_system1.05701115
58MP0005397_hematopoietic_system_phenotyp1.05701115
59MP0000358_abnormal_cell_content/1.05448591
60MP0010307_abnormal_tumor_latency1.03058114
61MP0002796_impaired_skin_barrier1.01762257
62MP0002084_abnormal_developmental_patter1.00317129
63MP0001346_abnormal_lacrimal_gland0.99604941
64MP0002233_abnormal_nose_morphology0.99344712
65MP0006072_abnormal_retinal_apoptosis0.99208000
66MP0002234_abnormal_pharynx_morphology0.99101264
67MP0005075_abnormal_melanosome_morpholog0.98985240
68MP0003941_abnormal_skin_development0.98834963
69MP0009697_abnormal_copulation0.97503771
70MP0008789_abnormal_olfactory_epithelium0.97265926
71MP0008995_early_reproductive_senescence0.96168558
72MP0003763_abnormal_thymus_physiology0.95584089
73MP0000653_abnormal_sex_gland0.93203667
74MP0004147_increased_porphyrin_level0.91470917
75MP0002086_abnormal_extraembryonic_tissu0.91171325
76MP0002751_abnormal_autonomic_nervous0.90769182
77MP0001929_abnormal_gametogenesis0.90414323
78MP0000703_abnormal_thymus_morphology0.90308028
79MP0004133_heterotaxia0.89420537
80MP0001986_abnormal_taste_sensitivity0.89201859
81MP0010352_gastrointestinal_tract_polyps0.88860060
82MP0005084_abnormal_gallbladder_morpholo0.88459390
83MP0001119_abnormal_female_reproductive0.87411298
84MP0008872_abnormal_physiological_respon0.86758236
85MP0002722_abnormal_immune_system0.86383784
86MP0001764_abnormal_homeostasis0.86266957
87MP0002697_abnormal_eye_size0.85713223
88MP0003119_abnormal_digestive_system0.83938564
89MP0002095_abnormal_skin_pigmentation0.83128955
90MP0002398_abnormal_bone_marrow0.80781406
91MP0000689_abnormal_spleen_morphology0.80551542
92MP0005332_abnormal_amino_acid0.79544553
93MP0001188_hyperpigmentation0.78631079
94MP0009672_abnormal_birth_weight0.78627646
95MP0004197_abnormal_fetal_growth/weight/0.77272934
96MP0000678_abnormal_parathyroid_gland0.76995637
97MP0000631_abnormal_neuroendocrine_gland0.76789012
98MP0005636_abnormal_mineral_homeostasis0.75894988
99MP0000372_irregular_coat_pigmentation0.74804429
100MP0005395_other_phenotype0.74771646
101MP0001919_abnormal_reproductive_system0.74668245
102MP0002638_abnormal_pupillary_reflex0.72460031
103MP0000762_abnormal_tongue_morphology0.71111736
104MP0000049_abnormal_middle_ear0.70853911
105MP0005174_abnormal_tail_pigmentation0.69411396
106MP0005384_cellular_phenotype0.69136395
107MP0003755_abnormal_palate_morphology0.67866828
108MP0002429_abnormal_blood_cell0.67713024
109MP0003698_abnormal_male_reproductive0.67675802
110MP0001286_abnormal_eye_development0.67477219
111MP0003936_abnormal_reproductive_system0.66714645
112MP0003938_abnormal_ear_development0.66416468
113MP0002282_abnormal_trachea_morphology0.65934084
114MP0004019_abnormal_vitamin_homeostasis0.64749337
115MP0002163_abnormal_gland_morphology0.64522768
116MP0000627_abnormal_mammary_gland0.64057306
117MP0000015_abnormal_ear_pigmentation0.61772048
118MP0002277_abnormal_respiratory_mucosa0.61315835
119MP0008260_abnormal_autophagy0.60711726
120MP0002111_abnormal_tail_morphology0.60539127
121MP0003937_abnormal_limbs/digits/tail_de0.59780953
122MP0006054_spinal_hemorrhage0.58553364
123MP0000566_synostosis0.58161925
124MP0005394_taste/olfaction_phenotype0.57564425
125MP0005499_abnormal_olfactory_system0.57564425
126MP0001727_abnormal_embryo_implantation0.57077706
127MP0000537_abnormal_urethra_morphology0.54926297

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)5.56989388
2Abnormal number of erythroid precursors (HP:0012131)5.26733172
3Birth length less than 3rd percentile (HP:0003561)5.22117619
4Reticulocytopenia (HP:0001896)4.94697060
5Breast hypoplasia (HP:0003187)4.25170698
6Macrocytic anemia (HP:0001972)3.79829073
7Oral leukoplakia (HP:0002745)3.78724566
8Aplastic anemia (HP:0001915)3.62423624
9Cerebral edema (HP:0002181)3.59303168
10Rough bone trabeculation (HP:0100670)3.52626822
11Colon cancer (HP:0003003)3.49724006
12Carpal bone hypoplasia (HP:0001498)3.41668128
13Pallor (HP:0000980)3.40707116
14Cerebral hypomyelination (HP:0006808)3.38922482
15Acute necrotizing encephalopathy (HP:0006965)3.20622106
16Increased hepatocellular lipid droplets (HP:0006565)3.15000377
17Mitochondrial inheritance (HP:0001427)3.14543545
18Patellar aplasia (HP:0006443)3.11388577
19Degeneration of anterior horn cells (HP:0002398)3.09047351
20Abnormality of the anterior horn cell (HP:0006802)3.09047351
21Increased CSF lactate (HP:0002490)3.01614033
22Aplasia/Hypoplasia of the patella (HP:0006498)2.95970308
23Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.94344712
243-Methylglutaconic aciduria (HP:0003535)2.88512233
25Abnormal mitochondria in muscle tissue (HP:0008316)2.87768721
26Increased serum lactate (HP:0002151)2.87088942
27Hepatocellular necrosis (HP:0001404)2.86565450
28Microretrognathia (HP:0000308)2.83998192
29Chromsome breakage (HP:0040012)2.83536380
30Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.78290298
31Decreased activity of mitochondrial respiratory chain (HP:0008972)2.78290298
32Chromosomal breakage induced by crosslinking agents (HP:0003221)2.75905623
33Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.75338782
34Selective tooth agenesis (HP:0001592)2.72421558
35Aplasia/Hypoplasia of the sacrum (HP:0008517)2.69130650
36Lipid accumulation in hepatocytes (HP:0006561)2.68651210
37Premature graying of hair (HP:0002216)2.63854607
38Type I transferrin isoform profile (HP:0003642)2.60443770
3911 pairs of ribs (HP:0000878)2.59230385
40Abnormality of the preputium (HP:0100587)2.58931397
41Abnormal trabecular bone morphology (HP:0100671)2.55617818
42Absent thumb (HP:0009777)2.54545046
43Abnormality of methionine metabolism (HP:0010901)2.50169230
44Meckel diverticulum (HP:0002245)2.49906901
45Optic disc pallor (HP:0000543)2.47350945
46Leukodystrophy (HP:0002415)2.47237185
47Hepatic necrosis (HP:0002605)2.47221552
48Secondary amenorrhea (HP:0000869)2.46638748
49Progressive macrocephaly (HP:0004481)2.45341434
50Abnormality of the heme biosynthetic pathway (HP:0010472)2.45334590
51Microvesicular hepatic steatosis (HP:0001414)2.45201156
52Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.43152580
53Abnormality of glycolysis (HP:0004366)2.42638790
54Increased serum pyruvate (HP:0003542)2.42638790
55Acute encephalopathy (HP:0006846)2.40739694
56Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.38493104
57Abnormal protein N-linked glycosylation (HP:0012347)2.38493104
58Abnormal protein glycosylation (HP:0012346)2.38493104
59Abnormal glycosylation (HP:0012345)2.38493104
60Abnormality of the ileum (HP:0001549)2.38157882
61Horseshoe kidney (HP:0000085)2.38044943
62Respiratory difficulties (HP:0002880)2.35187448
63Increased muscle lipid content (HP:0009058)2.34803657
64Exertional dyspnea (HP:0002875)2.34248732
65Lethargy (HP:0001254)2.33977217
66Pancytopenia (HP:0001876)2.32940322
67Cellular immunodeficiency (HP:0005374)2.31430908
68Renal Fanconi syndrome (HP:0001994)2.30957388
69Bone marrow hypocellularity (HP:0005528)2.30231276
70Irregular epiphyses (HP:0010582)2.30178761
71Absent radius (HP:0003974)2.29443181
72Impulsivity (HP:0100710)2.27636651
73Premature ovarian failure (HP:0008209)2.27150221
74Cleft eyelid (HP:0000625)2.26540909
75Hyperglycinemia (HP:0002154)2.25432527
76Multiple enchondromatosis (HP:0005701)2.25194208
77Trismus (HP:0000211)2.24742250
78Sparse eyelashes (HP:0000653)2.22072071
79Abnormal lung lobation (HP:0002101)2.20389780
80Abnormality of renal resorption (HP:0011038)2.19954165
81Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.18037948
82Abnormality of alanine metabolism (HP:0010916)2.18037948
83Hyperalaninemia (HP:0003348)2.18037948
84Neoplasm of the pancreas (HP:0002894)2.17936820
85Abnormality of chromosome stability (HP:0003220)2.17091243
86Testicular atrophy (HP:0000029)2.15419301
87Myelodysplasia (HP:0002863)2.15365114
88Abnormality of serum amino acid levels (HP:0003112)2.15185235
89Absent forearm bone (HP:0003953)2.12196631
90Aplasia involving forearm bones (HP:0009822)2.12196631
91Agnosia (HP:0010524)2.12042361
92Abnormality of the pons (HP:0007361)2.10577811
93Abnormality of aspartate family amino acid metabolism (HP:0010899)2.10484880
94Triphalangeal thumb (HP:0001199)2.09035448
95Exercise intolerance (HP:0003546)2.08806260
96Lactic acidosis (HP:0003128)2.08287841
97Reduced antithrombin III activity (HP:0001976)2.07675993
98Hypoplasia of the pons (HP:0012110)2.06911481
99CNS hypomyelination (HP:0003429)2.06759071
100Abnormal number of incisors (HP:0011064)2.06526422
101Type 2 muscle fiber atrophy (HP:0003554)2.06199294
102Muscle fiber atrophy (HP:0100295)2.05256043
103Medulloblastoma (HP:0002885)2.04719058
104Aplasia/Hypoplasia of the uvula (HP:0010293)2.01483077
105Generalized aminoaciduria (HP:0002909)2.01317396
106Glossoptosis (HP:0000162)2.00520053
107Supernumerary spleens (HP:0009799)1.98533034
108Small intestinal stenosis (HP:0012848)1.97821971
109Duodenal stenosis (HP:0100867)1.97821971
110Abnormality of urine glucose concentration (HP:0011016)1.95671274
111Glycosuria (HP:0003076)1.95671274
112Thrombocytosis (HP:0001894)1.95281291
113Duplicated collecting system (HP:0000081)1.93147771
114Abnormality of the labia minora (HP:0012880)1.93069610
115Methylmalonic aciduria (HP:0012120)1.91582766
116Increased intramyocellular lipid droplets (HP:0012240)1.90767714
117CNS demyelination (HP:0007305)1.89403573
118Methylmalonic acidemia (HP:0002912)1.88104211
119Abnormality of placental membranes (HP:0011409)1.86475759
120Amniotic constriction ring (HP:0009775)1.86475759
121Facial cleft (HP:0002006)1.86419890
122Tracheoesophageal fistula (HP:0002575)1.85818850
123Megaloblastic anemia (HP:0001889)1.85603171
124Respiratory failure (HP:0002878)1.85599769
125Congenital, generalized hypertrichosis (HP:0004540)1.85536032
126Abnormality of the renal collecting system (HP:0004742)1.82521990
127Stenosis of the external auditory canal (HP:0000402)1.81805398
128Abnormality of sulfur amino acid metabolism (HP:0004339)1.81737319
129X-linked dominant inheritance (HP:0001423)1.75427766
130Hyperphosphaturia (HP:0003109)1.70578645
131Hypoplastic pelvis (HP:0008839)1.70188067
132Hyperglycinuria (HP:0003108)1.68614476
133Abnormality of the duodenum (HP:0002246)1.63856232
134Abnormality of glycine metabolism (HP:0010895)1.61469882
135Abnormality of serine family amino acid metabolism (HP:0010894)1.61469882
136Progressive muscle weakness (HP:0003323)1.61457110

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.29847012
2BUB14.98426499
3WEE14.52275649
4EIF2AK13.96905493
5STK163.85595694
6NME23.36229391
7SRPK13.05551370
8CDC72.81271119
9ACVR1B2.66367307
10TSSK62.63345672
11VRK12.47234966
12BRSK22.43676707
13PLK42.39120339
14EIF2AK32.31396734
15MKNK12.08535810
16PLK11.79789355
17DYRK31.75676381
18PDK21.73677907
19PLK31.73528682
20TAF11.71421973
21TLK11.71088367
22NME11.67796760
23TTK1.66967025
24NEK21.60618286
25MKNK21.55674736
26BRSK11.54342329
27PIM21.54000722
28NUAK11.52782990
29CDK71.46902803
30AURKB1.44978849
31ZAK1.43319636
32ATR1.33523644
33NEK11.29992085
34TESK21.27674482
35AURKA1.26994444
36IRAK31.25062361
37EPHA21.20859750
38CDK81.20615874
39PASK1.20591748
40TGFBR11.17390594
41RPS6KB21.14953864
42CHEK21.10029751
43CCNB11.07202610
44MST1R1.07106646
45RPS6KA41.06466784
46BRAF1.00548516
47EIF2AK21.00424538
48PNCK0.89215290
49PAK40.88992386
50TNIK0.85772427
51CSNK2A20.83080133
52CHEK10.81357855
53TRIM280.81340196
54CSNK2A10.80669147
55WNK30.79796655
56WNK40.78899925
57KDR0.77714571
58MAP3K80.74310857
59ARAF0.71952847
60PBK0.71834134
61DYRK20.70279372
62PRKCI0.68786407
63PIM10.64962272
64AKT30.63668041
65MET0.61083293
66MAP4K20.60797709
67STK390.60661735
68RPS6KA50.59203745
69IRAK40.58930709
70MST40.58743173
71ATM0.58643950
72PAK10.58523255
73CDK40.58293414
74SMG10.58133318
75CSNK1G10.58060262
76CDK20.57881082
77TEC0.56622992
78MUSK0.54931716
79ABL20.53756515
80MAP3K110.51061126
81MELK0.46255158
82BMPR1B0.46219535
83FGFR10.46058480
84MAP3K120.45670691
85STK38L0.44890081
86STK40.44153284
87OXSR10.43049589
88CDK10.43031190
89BCKDK0.42869040
90SCYL20.42704322
91DAPK10.42194668
92CDK190.41573995
93YES10.40935486
94STK30.39283945
95MAPKAPK50.38592152
96FLT30.38349607
97CSNK1G20.37869678
98TAOK20.36505392
99DAPK30.36401434
100CSNK1A1L0.36394542
101ERBB40.34826550
102NLK0.34637810
103ILK0.34304251
104GRK10.33911956
105TESK10.33099892
106CDK90.32708545
107ADRBK20.30943484
108MAP2K60.30314611
109MAP2K30.29920908
110LRRK20.29902685
111TXK0.29810083
112MAPKAPK30.29809566
113CSNK1E0.26106872
114CLK10.24432199
115IKBKB0.24229663
116RAF10.22977346
117CSNK1G30.22468651
118LATS20.21818416
119STK240.20616533
120RPS6KC10.20336097
121RPS6KL10.20336097
122PDK30.20106386
123PDK40.20106386
124RPS6KA60.20074796
125STK100.19517335
126AKT20.18543646
127ERBB30.17949826
128ALK0.17743079

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.84095120
2Proteasome_Homo sapiens_hsa030504.45299060
3DNA replication_Homo sapiens_hsa030304.44969596
4* RNA polymerase_Homo sapiens_hsa030204.21552520
5Mismatch repair_Homo sapiens_hsa034303.84317683
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.83734189
7Spliceosome_Homo sapiens_hsa030403.28896320
8* Pyrimidine metabolism_Homo sapiens_hsa002402.90688507
9RNA transport_Homo sapiens_hsa030132.85158423
10Homologous recombination_Homo sapiens_hsa034402.79234858
11Nucleotide excision repair_Homo sapiens_hsa034202.78329298
12Base excision repair_Homo sapiens_hsa034102.76730582
13Cell cycle_Homo sapiens_hsa041102.12827948
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.10761040
15Basal transcription factors_Homo sapiens_hsa030222.09415672
16One carbon pool by folate_Homo sapiens_hsa006702.01981545
17Fanconi anemia pathway_Homo sapiens_hsa034601.93238630
18RNA degradation_Homo sapiens_hsa030181.92594330
19Oxidative phosphorylation_Homo sapiens_hsa001901.81895418
20Parkinsons disease_Homo sapiens_hsa050121.76078944
21Non-homologous end-joining_Homo sapiens_hsa034501.70008862
22* Purine metabolism_Homo sapiens_hsa002301.64756891
23Protein export_Homo sapiens_hsa030601.53437385
24Huntingtons disease_Homo sapiens_hsa050161.53217881
25* Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.38490980
26mRNA surveillance pathway_Homo sapiens_hsa030151.28613739
27Pyruvate metabolism_Homo sapiens_hsa006201.26539702
28p53 signaling pathway_Homo sapiens_hsa041151.25407116
29Vitamin B6 metabolism_Homo sapiens_hsa007501.22811250
30Fatty acid elongation_Homo sapiens_hsa000621.14307894
31Folate biosynthesis_Homo sapiens_hsa007901.13400666
32* Epstein-Barr virus infection_Homo sapiens_hsa051691.13058305
33Propanoate metabolism_Homo sapiens_hsa006401.09581435
34Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.07186106
35Sulfur metabolism_Homo sapiens_hsa009200.99852721
36Sulfur relay system_Homo sapiens_hsa041220.98496527
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97908666
38Alzheimers disease_Homo sapiens_hsa050100.97675752
39Cysteine and methionine metabolism_Homo sapiens_hsa002700.93120983
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.91660218
41Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.91549824
42Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.88093106
43Steroid biosynthesis_Homo sapiens_hsa001000.83868414
44Drug metabolism - other enzymes_Homo sapiens_hsa009830.79796502
45Pentose phosphate pathway_Homo sapiens_hsa000300.75775439
46Glutathione metabolism_Homo sapiens_hsa004800.72827345
47Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.70578795
48Cyanoamino acid metabolism_Homo sapiens_hsa004600.69414972
49Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.67623400
50Systemic lupus erythematosus_Homo sapiens_hsa053220.67178028
51Herpes simplex infection_Homo sapiens_hsa051680.66472046
52Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.66412100
53Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.65837964
54Oocyte meiosis_Homo sapiens_hsa041140.64841588
55Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61934217
56Peroxisome_Homo sapiens_hsa041460.59756429
57Biosynthesis of amino acids_Homo sapiens_hsa012300.58312066
58Antigen processing and presentation_Homo sapiens_hsa046120.52713162
59Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.51060369
60* Metabolic pathways_Homo sapiens_hsa011000.50321402
61Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.50284088
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.49422464
63Tyrosine metabolism_Homo sapiens_hsa003500.46252655
64Regulation of autophagy_Homo sapiens_hsa041400.45617140
65Fructose and mannose metabolism_Homo sapiens_hsa000510.45147049
66Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45015000
67Butanoate metabolism_Homo sapiens_hsa006500.44759241
68Arachidonic acid metabolism_Homo sapiens_hsa005900.44401691
69Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.43837896
70Viral carcinogenesis_Homo sapiens_hsa052030.43419396
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42926889
72Phenylalanine metabolism_Homo sapiens_hsa003600.42923295
73Thyroid cancer_Homo sapiens_hsa052160.42371578
74Chemical carcinogenesis_Homo sapiens_hsa052040.41462492
75Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.41099177
76Selenocompound metabolism_Homo sapiens_hsa004500.37540059
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.37346920
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37179287
79Fatty acid metabolism_Homo sapiens_hsa012120.37076303
80Legionellosis_Homo sapiens_hsa051340.37051312
81Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37042838
82Caffeine metabolism_Homo sapiens_hsa002320.36515789
83Fatty acid degradation_Homo sapiens_hsa000710.36208512
84Fat digestion and absorption_Homo sapiens_hsa049750.35456106
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.33478635
86Maturity onset diabetes of the young_Homo sapiens_hsa049500.33452275
87Tryptophan metabolism_Homo sapiens_hsa003800.33441935
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.32839149
89HTLV-I infection_Homo sapiens_hsa051660.32782617
90beta-Alanine metabolism_Homo sapiens_hsa004100.32286892
91Arginine biosynthesis_Homo sapiens_hsa002200.32200782
92Collecting duct acid secretion_Homo sapiens_hsa049660.31773134
93N-Glycan biosynthesis_Homo sapiens_hsa005100.31142366
94Carbon metabolism_Homo sapiens_hsa012000.31012273
95Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.30805056
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29968392
97Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.27381156
98Cardiac muscle contraction_Homo sapiens_hsa042600.25996532
99Nitrogen metabolism_Homo sapiens_hsa009100.25522031
100Mineral absorption_Homo sapiens_hsa049780.25453007
101Primary immunodeficiency_Homo sapiens_hsa053400.23050658
102Galactose metabolism_Homo sapiens_hsa000520.22376438
103Retinol metabolism_Homo sapiens_hsa008300.22045316
104Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.21436083
105Steroid hormone biosynthesis_Homo sapiens_hsa001400.18579312
106Apoptosis_Homo sapiens_hsa042100.17271813
107Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.16767741
108Phototransduction_Homo sapiens_hsa047440.16327610
109Alcoholism_Homo sapiens_hsa050340.16127772
110Arginine and proline metabolism_Homo sapiens_hsa003300.15281973
111Asthma_Homo sapiens_hsa053100.13578896
1122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.13423948
113Hematopoietic cell lineage_Homo sapiens_hsa046400.12079809
114Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.10889229
115NOD-like receptor signaling pathway_Homo sapiens_hsa046210.10270887
116Shigellosis_Homo sapiens_hsa051310.10149196
117Measles_Homo sapiens_hsa051620.10006044
118Transcriptional misregulation in cancer_Homo sapiens_hsa052020.10004771
119Linoleic acid metabolism_Homo sapiens_hsa005910.09632751
120TGF-beta signaling pathway_Homo sapiens_hsa043500.09173495
121Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.07409957
122Allograft rejection_Homo sapiens_hsa053300.06950190
123NF-kappa B signaling pathway_Homo sapiens_hsa040640.06232613
124Intestinal immune network for IgA production_Homo sapiens_hsa046720.06188515
125Small cell lung cancer_Homo sapiens_hsa052220.03857046
126Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.02767709
127Hepatitis B_Homo sapiens_hsa051610.02697407
128Colorectal cancer_Homo sapiens_hsa052100.02330451
129RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.02069815
130HIF-1 signaling pathway_Homo sapiens_hsa040660.01026288
131Influenza A_Homo sapiens_hsa051640.00211458
132Vitamin digestion and absorption_Homo sapiens_hsa04977-0.0233639
133Basal cell carcinoma_Homo sapiens_hsa05217-0.0148132
134MicroRNAs in cancer_Homo sapiens_hsa05206-0.0081650
135Renin-angiotensin system_Homo sapiens_hsa04614-0.0054262

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