ZNRD1

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 DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit biogenesis (GO:0042274)6.71433876
2ribosomal small subunit assembly (GO:0000028)6.46241471
3viral transcription (GO:0019083)6.29531059
4translational termination (GO:0006415)6.16000767
5maturation of SSU-rRNA (GO:0030490)5.97551775
6ribosomal large subunit biogenesis (GO:0042273)5.43028778
7SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.39562349
8cotranslational protein targeting to membrane (GO:0006613)5.31327631
9translational elongation (GO:0006414)5.30390820
10protein targeting to ER (GO:0045047)5.26965597
11DNA deamination (GO:0045006)5.08658553
12establishment of protein localization to endoplasmic reticulum (GO:0072599)5.00962825
13protein localization to endoplasmic reticulum (GO:0070972)5.00144762
14chaperone-mediated protein transport (GO:0072321)4.93474470
15translational initiation (GO:0006413)4.88842996
16cellular protein complex disassembly (GO:0043624)4.87453504
17viral life cycle (GO:0019058)4.82537947
18nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.82271319
19ribonucleoprotein complex biogenesis (GO:0022613)4.68070442
20termination of RNA polymerase III transcription (GO:0006386)4.47115577
21transcription elongation from RNA polymerase III promoter (GO:0006385)4.47115577
227-methylguanosine mRNA capping (GO:0006370)4.46990173
23proteasome assembly (GO:0043248)4.44866336
247-methylguanosine RNA capping (GO:0009452)4.41343450
25RNA capping (GO:0036260)4.41343450
26translation (GO:0006412)4.27268157
27protein complex disassembly (GO:0043241)4.22331033
28rRNA processing (GO:0006364)4.11868441
29protein complex biogenesis (GO:0070271)4.09664449
30mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.07191580
31transcription elongation from RNA polymerase I promoter (GO:0006362)4.02314455
32respiratory electron transport chain (GO:0022904)4.01730499
33macromolecular complex disassembly (GO:0032984)4.00979567
34rRNA metabolic process (GO:0016072)3.98082061
35mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.97596693
36energy coupled proton transport, down electrochemical gradient (GO:0015985)3.95795803
37ATP synthesis coupled proton transport (GO:0015986)3.95795803
38cellular component biogenesis (GO:0044085)3.94852017
39formation of translation preinitiation complex (GO:0001731)3.94404815
40mitochondrial respiratory chain complex assembly (GO:0033108)3.94186626
41electron transport chain (GO:0022900)3.92915191
42negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.91827461
43rRNA modification (GO:0000154)3.90602518
44* termination of RNA polymerase I transcription (GO:0006363)3.87579804
45transcription-coupled nucleotide-excision repair (GO:0006283)3.79440110
46positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.73225020
47nuclear-transcribed mRNA catabolic process (GO:0000956)3.73126124
48GTP biosynthetic process (GO:0006183)3.71880965
49regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.70020877
50telomere maintenance via semi-conservative replication (GO:0032201)3.68893429
51transcription from RNA polymerase I promoter (GO:0006360)3.67669607
52spliceosomal snRNP assembly (GO:0000387)3.64686062
53ribosome biogenesis (GO:0042254)3.64371827
54anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.62220749
55negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.59260258
56negative regulation of ligase activity (GO:0051352)3.59260258
57guanosine-containing compound biosynthetic process (GO:1901070)3.59082892
58DNA strand elongation involved in DNA replication (GO:0006271)3.56394659
59mRNA catabolic process (GO:0006402)3.53876179
60protein targeting to mitochondrion (GO:0006626)3.53400868
61deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.50642494
62ribosome assembly (GO:0042255)3.48200371
63DNA replication checkpoint (GO:0000076)3.47517205
64UTP biosynthetic process (GO:0006228)3.42356977
65protein targeting to membrane (GO:0006612)3.40875030
66pseudouridine synthesis (GO:0001522)3.40195888
67purine nucleobase biosynthetic process (GO:0009113)3.39327970
68DNA strand elongation (GO:0022616)3.39102011
69mitotic metaphase plate congression (GO:0007080)3.38812492
70exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.36199351
71telomere maintenance via recombination (GO:0000722)3.35644568
72respiratory chain complex IV assembly (GO:0008535)3.33786405
73nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.33294203
74positive regulation of viral transcription (GO:0050434)3.32905379
75DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.32272466
76RNA catabolic process (GO:0006401)3.32177635
77kinetochore assembly (GO:0051382)3.31951309
78transcription initiation from RNA polymerase I promoter (GO:0006361)3.30359532
79regulation of cellular amino acid metabolic process (GO:0006521)3.30013527
80oxidative phosphorylation (GO:0006119)3.29454152
81establishment of integrated proviral latency (GO:0075713)3.29213001
82transcription elongation from RNA polymerase II promoter (GO:0006368)3.29091997
83DNA replication initiation (GO:0006270)3.27782557
84RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.27212841
85tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.27212841
86positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.27211424
87establishment of protein localization to mitochondrion (GO:0072655)3.26865552
88signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.26796404
89signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.26796404
90signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.26796404
91establishment of protein localization to mitochondrial membrane (GO:0090151)3.26579401
92L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.26532092
93intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.26365105
94signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.26365105
95protein localization to mitochondrion (GO:0070585)3.24135877
96spliceosomal complex assembly (GO:0000245)3.21393989
97signal transduction involved in DNA damage checkpoint (GO:0072422)3.20081613
98signal transduction involved in DNA integrity checkpoint (GO:0072401)3.20081613
99DNA damage response, detection of DNA damage (GO:0042769)3.17759145
100nucleobase biosynthetic process (GO:0046112)3.17571869
101signal transduction involved in cell cycle checkpoint (GO:0072395)3.16280816
102peptidyl-histidine modification (GO:0018202)3.15739562
103cytochrome complex assembly (GO:0017004)3.15068342
104CENP-A containing nucleosome assembly (GO:0034080)3.14502639
105positive regulation of ligase activity (GO:0051351)3.13676082
106rRNA methylation (GO:0031167)3.13465261
107DNA-templated transcription, elongation (GO:0006354)3.13178593
108antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.12226312
109protein neddylation (GO:0045116)3.09230989
110ncRNA processing (GO:0034470)3.09060096
111kinetochore organization (GO:0051383)3.07801758
112regulation of mitochondrial translation (GO:0070129)3.06552972
113inner mitochondrial membrane organization (GO:0007007)3.06417305
114chromatin remodeling at centromere (GO:0031055)3.03704648
115pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.03596663
116pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.02432642
117mitochondrial respiratory chain complex I assembly (GO:0032981)3.01434584
118NADH dehydrogenase complex assembly (GO:0010257)3.01434584
119mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.01434584
120CTP metabolic process (GO:0046036)3.00069267
121histone exchange (GO:0043486)2.96205594
122mitochondrial RNA metabolic process (GO:0000959)2.95278049
123ATP biosynthetic process (GO:0006754)2.89297588
124regulation of ubiquitin-protein transferase activity (GO:0051438)2.88487267
125purine nucleoside triphosphate biosynthetic process (GO:0009145)2.87227459

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.99320888
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.53098409
3* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.48321052
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.14444130
5* EST1_17652178_ChIP-ChIP_JURKAT_Human4.00665948
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.85292207
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.80670621
8* ETS1_20019798_ChIP-Seq_JURKAT_Human3.66288340
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.47198852
10* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.44993505
11* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.29946894
12MYC_19079543_ChIP-ChIP_MESCs_Mouse3.17654396
13MYC_18358816_ChIP-ChIP_MESCs_Mouse3.17186220
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.13188126
15CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.12579214
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.07976140
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.94326221
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.92223163
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.83244585
20* VDR_23849224_ChIP-Seq_CD4+_Human2.79070038
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.75228635
22ELF1_17652178_ChIP-ChIP_JURKAT_Human2.61360880
23FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.57134825
24XRN2_22483619_ChIP-Seq_HELA_Human2.52066000
25DCP1A_22483619_ChIP-Seq_HELA_Human2.43098808
26FOXP3_21729870_ChIP-Seq_TREG_Human2.26824232
27E2F1_18555785_ChIP-Seq_MESCs_Mouse2.22875642
28NELFA_20434984_ChIP-Seq_ESCs_Mouse2.19971775
29FOXM1_23109430_ChIP-Seq_U2OS_Human2.16642113
30THAP11_20581084_ChIP-Seq_MESCs_Mouse2.15258348
31YY1_21170310_ChIP-Seq_MESCs_Mouse2.11406021
32TTF2_22483619_ChIP-Seq_HELA_Human2.10803337
33ELK1_19687146_ChIP-ChIP_HELA_Human2.10459472
34GABP_19822575_ChIP-Seq_HepG2_Human2.02757962
35SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.01297854
36SRF_21415370_ChIP-Seq_HL-1_Mouse1.99675206
37MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.91187755
38* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.86321214
39* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.81185046
40* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.78128599
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.74436792
42POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.70219502
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.69052649
44* PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.67777415
45HOXB4_20404135_ChIP-ChIP_EML_Mouse1.67016860
46PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66708125
47FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.62416989
48ELK1_22589737_ChIP-Seq_MCF10A_Human1.61615197
49FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.61558837
50MYCN_18555785_ChIP-Seq_MESCs_Mouse1.61009205
51YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.54690482
52NOTCH1_21737748_ChIP-Seq_TLL_Human1.53712314
53MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.53348283
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.52209073
55CIITA_25753668_ChIP-Seq_RAJI_Human1.46762621
56* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.45815771
57* POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.38228297
58ERG_20887958_ChIP-Seq_HPC-7_Mouse1.33162147
59TP63_19390658_ChIP-ChIP_HaCaT_Human1.29820160
60MYC_18940864_ChIP-ChIP_HL60_Human1.29650354
61SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.28686598
62ZFX_18555785_ChIP-Seq_MESCs_Mouse1.28041156
63TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.26150060
64ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.25526450
65AR_21909140_ChIP-Seq_LNCAP_Human1.23766480
66BP1_19119308_ChIP-ChIP_Hs578T_Human1.23459301
67E2F1_21310950_ChIP-Seq_MCF-7_Human1.22696207
68KDM5A_27292631_Chip-Seq_BREAST_Human1.22418769
69SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.21738203
70CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.21565437
71BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.17886985
72* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.16714930
73KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.14614373
74CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.06802412
75CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.00851556
76SPI1_23547873_ChIP-Seq_NB4_Human0.98823074
77ZNF274_21170338_ChIP-Seq_K562_Hela0.97447558
78STAT3_1855785_ChIP-Seq_MESCs_Mouse0.96343392
79* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.95240912
80IRF1_19129219_ChIP-ChIP_H3396_Human0.93412484
81GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.91406697
82SOX2_18555785_ChIP-Seq_MESCs_Mouse0.89178062
83FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88412510
84* HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.87682951
85KLF4_18555785_ChIP-Seq_MESCs_Mouse0.87479729
86DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.87303835
87E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.86533237
88HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.85310383
89SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.84817465
90CTCF_18555785_ChIP-Seq_MESCs_Mouse0.82494140
91CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.82433473
92IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.82397666
93DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.81194956
94TFEB_21752829_ChIP-Seq_HELA_Human0.79025142
95ERG_20517297_ChIP-Seq_VCAP_Human0.77633601
96* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.77619357
97SOX2_18692474_ChIP-Seq_MEFs_Mouse0.77332253
98ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.76949024
99* SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.75633479
100RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.75580206
101NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.75398796
102EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.75031933
103* FOXP1_21924763_ChIP-Seq_HESCs_Human0.74260073
104CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.73212445
105SOX17_20123909_ChIP-Seq_XEN_Mouse0.73037821
106KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.73012804
107SRY_22984422_ChIP-ChIP_TESTIS_Rat0.72757575
108YY1_22570637_ChIP-Seq_MALME-3M_Human0.72153514
109SOX2_16153702_ChIP-ChIP_HESCs_Human0.70566572
110TP53_22573176_ChIP-Seq_HFKS_Human0.69622880
111KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.69294675
112ELF5_23300383_ChIP-Seq_T47D_Human0.69181569
113EWS_26573619_Chip-Seq_HEK293_Human0.67634051
114RBPJ_22232070_ChIP-Seq_NCS_Mouse0.66636720
115CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.65732720
116* HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.63239370

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.52124911
2MP0004957_abnormal_blastocyst_morpholog4.01393973
3MP0009379_abnormal_foot_pigmentation3.82940024
4MP0003806_abnormal_nucleotide_metabolis3.61059116
5MP0003111_abnormal_nucleus_morphology3.48456416
6MP0008058_abnormal_DNA_repair3.35886019
7MP0003077_abnormal_cell_cycle3.32399995
8MP0010094_abnormal_chromosome_stability3.30704217
9MP0008057_abnormal_DNA_replication3.10116214
10MP0003786_premature_aging2.92461472
11MP0006292_abnormal_olfactory_placode2.56819120
12MP0004147_increased_porphyrin_level2.55724399
13MP0008932_abnormal_embryonic_tissue2.51681043
14MP0008007_abnormal_cellular_replicative2.44957365
15MP0005410_abnormal_fertilization2.23043043
16MP0003718_maternal_effect2.14020687
17MP0003123_paternal_imprinting2.02303366
18MP0002938_white_spotting1.96371342
19MP0002132_abnormal_respiratory_system1.89889669
20MP0009333_abnormal_splenocyte_physiolog1.84823128
21MP0003315_abnormal_perineum_morphology1.76419260
22MP0008877_abnormal_DNA_methylation1.73309186
23MP0000490_abnormal_crypts_of1.73138497
24MP0002396_abnormal_hematopoietic_system1.71135948
25MP0002102_abnormal_ear_morphology1.65173259
26MP0003763_abnormal_thymus_physiology1.64841576
27MP0005671_abnormal_response_to1.63273040
28MP0001986_abnormal_taste_sensitivity1.58870855
29MP0001873_stomach_inflammation1.56137097
30MP0001188_hyperpigmentation1.52198205
31MP0008995_early_reproductive_senescence1.51458610
32MP0003941_abnormal_skin_development1.51416907
33MP0001730_embryonic_growth_arrest1.47623710
34MP0005394_taste/olfaction_phenotype1.46782800
35MP0005499_abnormal_olfactory_system1.46782800
36MP0001764_abnormal_homeostasis1.46195494
37MP0003136_yellow_coat_color1.41302485
38MP0001529_abnormal_vocalization1.36850734
39MP0000350_abnormal_cell_proliferation1.35861380
40MP0001293_anophthalmia1.35172934
41MP0005084_abnormal_gallbladder_morpholo1.29547291
42MP0010030_abnormal_orbit_morphology1.25287409
43MP0005075_abnormal_melanosome_morpholog1.24795950
44MP0003698_abnormal_male_reproductive1.24672586
45MP0002398_abnormal_bone_marrow1.20087729
46MP0002019_abnormal_tumor_incidence1.18657852
47MP0002722_abnormal_immune_system1.17748333
48MP0008789_abnormal_olfactory_epithelium1.15608184
49MP0003186_abnormal_redox_activity1.15547930
50MP0000689_abnormal_spleen_morphology1.13642499
51MP0002160_abnormal_reproductive_system1.13530416
52MP0000313_abnormal_cell_death1.12722983
53MP0000703_abnormal_thymus_morphology1.12377622
54MP0001727_abnormal_embryo_implantation1.10881117
55MP0003878_abnormal_ear_physiology1.08338488
56MP0005377_hearing/vestibular/ear_phenot1.08338488
57MP0001853_heart_inflammation1.06841467
58MP0002653_abnormal_ependyma_morphology1.06693335
59MP0003011_delayed_dark_adaptation1.06020473
60MP0001697_abnormal_embryo_size1.05633529
61MP0002163_abnormal_gland_morphology1.01207632
62MP0002210_abnormal_sex_determination1.00422716
63MP0001905_abnormal_dopamine_level0.99397625
64MP0005389_reproductive_system_phenotype0.98898155
65MP0002277_abnormal_respiratory_mucosa0.98701744
66MP0001800_abnormal_humoral_immune0.98571781
67MP0002080_prenatal_lethality0.98557640
68MP0005409_darkened_coat_color0.98312723
69MP0010307_abnormal_tumor_latency0.97604986
70MP0006036_abnormal_mitochondrial_physio0.97018903
71MP0005380_embryogenesis_phenotype0.96488528
72MP0001672_abnormal_embryogenesis/_devel0.96488528
73MP0002638_abnormal_pupillary_reflex0.96343245
74MP0002429_abnormal_blood_cell0.95753130
75MP0004808_abnormal_hematopoietic_stem0.95294015
76MP0001835_abnormal_antigen_presentation0.94836397
77MP0002420_abnormal_adaptive_immunity0.94221604
78MP0000716_abnormal_immune_system0.94017525
79MP0006072_abnormal_retinal_apoptosis0.93823672
80MP0001545_abnormal_hematopoietic_system0.93712905
81MP0005397_hematopoietic_system_phenotyp0.93712905
82MP0000358_abnormal_cell_content/0.93104745
83MP0004381_abnormal_hair_follicle0.92803651
84MP0001819_abnormal_immune_cell0.91967699
85MP0003866_abnormal_defecation0.88431140
86MP0005253_abnormal_eye_physiology0.87842852
87MP0001145_abnormal_male_reproductive0.87055296
88MP0009785_altered_susceptibility_to0.86879423
89MP0002148_abnormal_hypersensitivity_rea0.85609184
90MP0008872_abnormal_physiological_respon0.85360766
91MP0002723_abnormal_immune_serum0.83935738
92MP0006035_abnormal_mitochondrial_morpho0.83725100
93MP0003938_abnormal_ear_development0.83281199
94MP0002095_abnormal_skin_pigmentation0.82583070
95MP0001919_abnormal_reproductive_system0.82232009
96MP0001929_abnormal_gametogenesis0.80962496
97MP0003567_abnormal_fetal_cardiomyocyte0.80211125
98MP0000613_abnormal_salivary_gland0.79580720
99MP0002085_abnormal_embryonic_tissue0.79404975
100MP0002452_abnormal_antigen_presenting0.79360942
101MP0000653_abnormal_sex_gland0.78710920
102MP0005636_abnormal_mineral_homeostasis0.78624042
103MP0002161_abnormal_fertility/fecundity0.78352134
104MP0005395_other_phenotype0.78297940
105MP0002138_abnormal_hepatobiliary_system0.77161209
106MP0000049_abnormal_middle_ear0.76226819
107MP0004133_heterotaxia0.76014869
108MP0003984_embryonic_growth_retardation0.75951905
109MP0001119_abnormal_female_reproductive0.75716937
110MP0000372_irregular_coat_pigmentation0.74997018
111MP0009697_abnormal_copulation0.74890891
112MP0002234_abnormal_pharynx_morphology0.74626350
113MP0000013_abnormal_adipose_tissue0.73525537
114MP0000685_abnormal_immune_system0.72961409
115MP0008875_abnormal_xenobiotic_pharmacok0.72881587
116MP0002088_abnormal_embryonic_growth/wei0.72703842
117MP0005408_hypopigmentation0.72698567
118MP0001881_abnormal_mammary_gland0.71628144
119MP0002405_respiratory_system_inflammati0.70713710
120MP0000465_gastrointestinal_hemorrhage0.70258752
121MP0005645_abnormal_hypothalamus_physiol0.70227535
122MP0000858_altered_metastatic_potential0.69807059
123MP0005174_abnormal_tail_pigmentation0.69723862
124MP0005000_abnormal_immune_tolerance0.69321619
125MP0005266_abnormal_metabolism0.68515135
126MP0005025_abnormal_response_to0.67822293
127MP0005310_abnormal_salivary_gland0.66930896

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)6.23843406
2Abnormal number of erythroid precursors (HP:0012131)5.51856864
3Reticulocytopenia (HP:0001896)5.12406690
4Macrocytic anemia (HP:0001972)4.26686485
5Birth length less than 3rd percentile (HP:0003561)4.12403549
6Acute necrotizing encephalopathy (HP:0006965)3.94813321
7Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.94271916
8Decreased activity of mitochondrial respiratory chain (HP:0008972)3.94271916
9Mitochondrial inheritance (HP:0001427)3.70680936
10Pallor (HP:0000980)3.66541374
11Breast hypoplasia (HP:0003187)3.62023011
12Increased hepatocellular lipid droplets (HP:0006565)3.57243921
13Abnormal mitochondria in muscle tissue (HP:0008316)3.50104780
14Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.43634566
15Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.42117055
16Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.37506167
17Renal Fanconi syndrome (HP:0001994)3.34170536
18Progressive macrocephaly (HP:0004481)3.31144427
19Aplastic anemia (HP:0001915)3.24821157
20Increased CSF lactate (HP:0002490)3.23331653
21Hepatocellular necrosis (HP:0001404)3.16239841
223-Methylglutaconic aciduria (HP:0003535)3.09972602
23Lipid accumulation in hepatocytes (HP:0006561)3.06863186
24Microvesicular hepatic steatosis (HP:0001414)3.06339981
25Rough bone trabeculation (HP:0100670)2.94822477
26Exertional dyspnea (HP:0002875)2.92633157
27Acute encephalopathy (HP:0006846)2.92366073
28Oral leukoplakia (HP:0002745)2.90991193
29Increased serum lactate (HP:0002151)2.78271733
30Aplasia/Hypoplasia of the sacrum (HP:0008517)2.74923950
31Type I transferrin isoform profile (HP:0003642)2.74331512
32Hepatic necrosis (HP:0002605)2.67463000
33Carpal bone hypoplasia (HP:0001498)2.67241395
34Cerebral hypomyelination (HP:0006808)2.61875085
35Entropion (HP:0000621)2.58573492
36Exercise intolerance (HP:0003546)2.55482431
37Microretrognathia (HP:0000308)2.53269367
38Absent thumb (HP:0009777)2.52288877
39Increased intramyocellular lipid droplets (HP:0012240)2.46268522
40Patellar aplasia (HP:0006443)2.43105760
41Stenosis of the external auditory canal (HP:0000402)2.42591490
42Aplasia/Hypoplasia of the patella (HP:0006498)2.38232191
43Congenital ichthyosiform erythroderma (HP:0007431)2.36369120
44Poikiloderma (HP:0001029)2.31747957
45Lactic acidosis (HP:0003128)2.31446734
46Abnormal trabecular bone morphology (HP:0100671)2.30814890
47Respiratory difficulties (HP:0002880)2.28970344
48IgM deficiency (HP:0002850)2.24284482
49Abnormality of the preputium (HP:0100587)2.22721883
50Abnormality of DNA repair (HP:0003254)2.21610116
51Lethargy (HP:0001254)2.21280054
52IgG deficiency (HP:0004315)2.20918823
53Irregular epiphyses (HP:0010582)2.19217401
54Colon cancer (HP:0003003)2.18849629
55Severe combined immunodeficiency (HP:0004430)2.18548246
56Muscle fiber atrophy (HP:0100295)2.17216541
57Abnormality of renal resorption (HP:0011038)2.15384767
5811 pairs of ribs (HP:0000878)2.14624842
59Generalized aminoaciduria (HP:0002909)2.12504651
60Type 2 muscle fiber atrophy (HP:0003554)2.11879383
61Congenital, generalized hypertrichosis (HP:0004540)2.11864445
62Premature graying of hair (HP:0002216)2.11641591
63Leukodystrophy (HP:0002415)2.11579177
64Respiratory failure (HP:0002878)2.09793811
65Triphalangeal thumb (HP:0001199)2.08527108
66Methylmalonic aciduria (HP:0012120)2.08306963
67Hyperglycinemia (HP:0002154)2.07450288
68Sparse eyelashes (HP:0000653)2.06877300
69Cleft eyelid (HP:0000625)2.06672477
70Horseshoe kidney (HP:0000085)2.06274049
71Pancytopenia (HP:0001876)2.05528185
72Pancreatic cysts (HP:0001737)2.04643385
73Pancreatic fibrosis (HP:0100732)2.03898521
74Abnormality of glycolysis (HP:0004366)2.03722225
75Increased serum pyruvate (HP:0003542)2.03722225
76Optic disc pallor (HP:0000543)2.02432762
77Molar tooth sign on MRI (HP:0002419)2.02345248
78Abnormality of midbrain morphology (HP:0002418)2.02345248
79Abnormality of urine glucose concentration (HP:0011016)2.01550061
80Glycosuria (HP:0003076)2.01550061
81Chromsome breakage (HP:0040012)2.01213132
82Aplasia/Hypoplasia of the uvula (HP:0010293)1.98826987
83Trismus (HP:0000211)1.98140019
84Meckel diverticulum (HP:0002245)1.96895145
85Chromosomal breakage induced by crosslinking agents (HP:0003221)1.95708368
86Increased muscle lipid content (HP:0009058)1.94452872
87Combined immunodeficiency (HP:0005387)1.94092300
88Bone marrow hypocellularity (HP:0005528)1.93851904
89Panhypogammaglobulinemia (HP:0003139)1.93552187
90Thrombocytosis (HP:0001894)1.92527017
91Hypoplasia of the radius (HP:0002984)1.90884790
92Aplasia/hypoplasia of the uterus (HP:0008684)1.90678312
93Abnormality of the ileum (HP:0001549)1.89269786
94Dicarboxylic aciduria (HP:0003215)1.88676150
95Abnormality of dicarboxylic acid metabolism (HP:0010995)1.88676150
96Reduced antithrombin III activity (HP:0001976)1.88564039
97Cellular immunodeficiency (HP:0005374)1.88218325
98True hermaphroditism (HP:0010459)1.88174921
99Methylmalonic acidemia (HP:0002912)1.87954789
100Cerebral edema (HP:0002181)1.87597911
101Abnormal biliary tract physiology (HP:0012439)1.85959193
102Bile duct proliferation (HP:0001408)1.85959193
103Absent rod-and cone-mediated responses on ERG (HP:0007688)1.85945758
104Depressed nasal ridge (HP:0000457)1.85642707
105Secondary amenorrhea (HP:0000869)1.83663203
106Emotional lability (HP:0000712)1.83174869
107Abnormality of the axillary hair (HP:0100134)1.82474446
108Abnormality of secondary sexual hair (HP:0009888)1.82474446
109Multiple enchondromatosis (HP:0005701)1.82050166
110Absent radius (HP:0003974)1.80548036
111Abnormal protein glycosylation (HP:0012346)1.80109381
112Abnormal glycosylation (HP:0012345)1.80109381
113Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.80109381
114Abnormal protein N-linked glycosylation (HP:0012347)1.80109381
115B lymphocytopenia (HP:0010976)1.78671827
116Myelodysplasia (HP:0002863)1.77806703
117CNS demyelination (HP:0007305)1.76478774
118Hypoplasia of the capital femoral epiphysis (HP:0003090)1.75904504
119Neutropenia (HP:0001875)1.74337140
120Abnormality of methionine metabolism (HP:0010901)1.73528422
121Abnormality of chromosome stability (HP:0003220)1.73233779
122Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.72841073
123Constricted visual fields (HP:0001133)1.72614868
124Abnormal rod and cone electroretinograms (HP:0008323)1.69949744
125Duodenal stenosis (HP:0100867)1.69746201
126Small intestinal stenosis (HP:0012848)1.69746201
127Testicular atrophy (HP:0000029)1.69373579
128Facial cleft (HP:0002006)1.66530079
129Hyperalaninemia (HP:0003348)1.66305457
130Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.66305457
131Hyperphosphaturia (HP:0003109)1.64782823
132Attenuation of retinal blood vessels (HP:0007843)1.63438361
133Abnormality of aspartate family amino acid metabolism (HP:0010899)1.60134046
134Abnormality of B cell number (HP:0010975)1.59822632
135Progressive microcephaly (HP:0000253)1.59052566

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.40071099
2BUB15.27037716
3NME24.65177013
4STK164.10653866
5WEE13.62477431
6EIF2AK13.31520347
7VRK12.72535143
8MAP4K22.57818259
9EIF2AK32.46521581
10BCKDK2.34712951
11INSRR2.30371460
12SRPK12.19913085
13PLK42.19554117
14NEK12.16373813
15NME12.05362921
16TESK21.91342665
17DYRK31.82762790
18BRSK21.77239204
19ACVR1B1.75675216
20TLK11.74584082
21MKNK11.71866698
22MKNK21.70563948
23CDK81.56662008
24PIM21.54936152
25CDC71.54733897
26TSSK61.53905559
27PLK11.47266864
28RPS6KB21.44226363
29NEK21.43011409
30TAOK31.42170151
31PLK31.40980286
32MST41.40167095
33MAP3K121.33778657
34TTK1.32414416
35TRIM281.25927116
36CDK71.25146066
37AURKB1.21010486
38BRAF1.18148808
39CCNB11.17792210
40AURKA1.15461247
41CHEK21.14342505
42IRAK31.11221985
43KDR1.07240594
44BRSK11.05102568
45RPS6KA41.03694674
46PDK21.02097338
47TAF11.00107461
48CDK30.98919778
49WNK30.98462285
50EIF2AK20.96992517
51NLK0.95379325
52ZAK0.95283085
53BMPR1B0.94958317
54DYRK20.93343096
55MAP4K10.93170881
56TXK0.93079026
57CDK190.90447049
58ATR0.87273658
59EPHA20.86954822
60MARK30.83707393
61PASK0.81354852
62MAP3K80.80283709
63CSNK1G30.79898228
64PBK0.79309954
65TEC0.76805706
66IRAK20.74693533
67IRAK40.74130516
68CSNK2A10.73977925
69PAK10.73357422
70CLK10.71769841
71LRRK20.71332313
72CSNK2A20.69429914
73TGFBR10.69045795
74GRK60.64538037
75PIM10.63777361
76CSNK1G10.63120352
77PRKCI0.60279347
78ADRBK20.59556775
79ILK0.58165634
80ARAF0.57198051
81MYLK0.56368608
82TESK10.56022210
83RPS6KA50.55580633
84IKBKB0.55339767
85GRK10.54812611
86PNCK0.54330673
87MUSK0.53444272
88ABL20.53034854
89ZAP700.52852430
90CDK40.51359731
91GRK70.50783243
92CHEK10.49628702
93STK100.49011298
94STK240.48236618
95PAK40.47904494
96CSNK1G20.47831302
97KIT0.46509792
98DAPK10.46360863
99AKT30.45830302
100MAP2K70.45450241
101CSNK1A1L0.45009875
102MAP2K20.44766111
103LATS10.44503308
104MAP3K110.44160351
105TNIK0.43802408
106MAP3K30.42959029
107MATK0.40416592
108PIK3CG0.40263742
109STK40.39714761
110NEK60.39485051
111SYK0.38502251
112LYN0.37941082
113DAPK30.37585797
114PINK10.34446537
115RAF10.33378947
116FES0.32447337
117NUAK10.31536193
118MAPK40.31313417
119SCYL20.31290630
120BTK0.31070951
121CASK0.30628161
122CDK20.30409976
123BMPR20.29657456
124ATM0.29287832
125MAPKAPK50.28699133
126MELK0.27605818
127FLT30.27449405
128PRKCQ0.27399170
129MAP3K50.26878642
130YES10.26429462

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.76122737
2* RNA polymerase_Homo sapiens_hsa030204.34464363
3Proteasome_Homo sapiens_hsa030504.19882613
4DNA replication_Homo sapiens_hsa030303.56294077
5Mismatch repair_Homo sapiens_hsa034303.41745755
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.34638379
7Spliceosome_Homo sapiens_hsa030402.97092117
8Nucleotide excision repair_Homo sapiens_hsa034202.72326765
9* Pyrimidine metabolism_Homo sapiens_hsa002402.72123318
10Oxidative phosphorylation_Homo sapiens_hsa001902.69204388
11Homologous recombination_Homo sapiens_hsa034402.51536568
12RNA transport_Homo sapiens_hsa030132.44321721
13Parkinsons disease_Homo sapiens_hsa050122.35659501
14Basal transcription factors_Homo sapiens_hsa030222.35510801
15Base excision repair_Homo sapiens_hsa034102.20275523
16Protein export_Homo sapiens_hsa030602.19189930
17Huntingtons disease_Homo sapiens_hsa050162.02574716
18Fanconi anemia pathway_Homo sapiens_hsa034601.81141882
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.78454259
20RNA degradation_Homo sapiens_hsa030181.70733827
21Cell cycle_Homo sapiens_hsa041101.69669648
22* Purine metabolism_Homo sapiens_hsa002301.60663816
23Alzheimers disease_Homo sapiens_hsa050101.53587729
24Non-homologous end-joining_Homo sapiens_hsa034501.50049412
25Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.43561046
26Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.39719758
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.37960273
28Vitamin B6 metabolism_Homo sapiens_hsa007501.36997609
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.24726146
30p53 signaling pathway_Homo sapiens_hsa041151.12588057
31Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.10686623
32One carbon pool by folate_Homo sapiens_hsa006701.06874489
33Epstein-Barr virus infection_Homo sapiens_hsa051691.06607017
34mRNA surveillance pathway_Homo sapiens_hsa030151.02105448
35Primary immunodeficiency_Homo sapiens_hsa053400.96020379
36Propanoate metabolism_Homo sapiens_hsa006400.95005641
37Folate biosynthesis_Homo sapiens_hsa007900.83886523
38Fatty acid elongation_Homo sapiens_hsa000620.81691583
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.80585056
40Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.77812471
41Antigen processing and presentation_Homo sapiens_hsa046120.75262055
42Cyanoamino acid metabolism_Homo sapiens_hsa004600.74958736
43Glutathione metabolism_Homo sapiens_hsa004800.71943627
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.69455503
45Intestinal immune network for IgA production_Homo sapiens_hsa046720.68827808
46Pyruvate metabolism_Homo sapiens_hsa006200.68189247
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.65058598
48SNARE interactions in vesicular transport_Homo sapiens_hsa041300.65025332
49Butanoate metabolism_Homo sapiens_hsa006500.63210394
50Peroxisome_Homo sapiens_hsa041460.62749800
51Regulation of autophagy_Homo sapiens_hsa041400.62476717
52Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.61223398
53Sulfur relay system_Homo sapiens_hsa041220.60527717
54Graft-versus-host disease_Homo sapiens_hsa053320.60066399
55Herpes simplex infection_Homo sapiens_hsa051680.59719679
56Carbon metabolism_Homo sapiens_hsa012000.58396069
57Pentose phosphate pathway_Homo sapiens_hsa000300.56524658
58Arachidonic acid metabolism_Homo sapiens_hsa005900.55259390
59Phototransduction_Homo sapiens_hsa047440.54652641
60Cardiac muscle contraction_Homo sapiens_hsa042600.52943836
61Cysteine and methionine metabolism_Homo sapiens_hsa002700.51792011
62Systemic lupus erythematosus_Homo sapiens_hsa053220.51763870
63Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.51343106
64* Metabolic pathways_Homo sapiens_hsa011000.50695006
65Fructose and mannose metabolism_Homo sapiens_hsa000510.49869143
66Drug metabolism - other enzymes_Homo sapiens_hsa009830.49248342
67Type I diabetes mellitus_Homo sapiens_hsa049400.48307000
68Olfactory transduction_Homo sapiens_hsa047400.45737024
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.44102940
70Oocyte meiosis_Homo sapiens_hsa041140.42617031
71Asthma_Homo sapiens_hsa053100.42502279
72Hematopoietic cell lineage_Homo sapiens_hsa046400.41060179
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.40853345
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.39624976
75Nitrogen metabolism_Homo sapiens_hsa009100.38996375
76Steroid biosynthesis_Homo sapiens_hsa001000.38047044
77Thyroid cancer_Homo sapiens_hsa052160.36099284
78Chemical carcinogenesis_Homo sapiens_hsa052040.36078930
79Sphingolipid metabolism_Homo sapiens_hsa006000.35384971
80Allograft rejection_Homo sapiens_hsa053300.33829941
81Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.32421893
82HTLV-I infection_Homo sapiens_hsa051660.31460023
83Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.29836117
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.28941853
85NF-kappa B signaling pathway_Homo sapiens_hsa040640.27714483
86N-Glycan biosynthesis_Homo sapiens_hsa005100.26889971
87Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26394138
88Viral carcinogenesis_Homo sapiens_hsa052030.26168151
89Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.25732320
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.25089725
91Autoimmune thyroid disease_Homo sapiens_hsa053200.24659308
92Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.24219898
93Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.24136330
94Pentose and glucuronate interconversions_Homo sapiens_hsa000400.23581057
95Tyrosine metabolism_Homo sapiens_hsa003500.23565752
96Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.22946505
97Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.22353038
98Vitamin digestion and absorption_Homo sapiens_hsa049770.21626779
99Measles_Homo sapiens_hsa051620.20848062
100Linoleic acid metabolism_Homo sapiens_hsa005910.20847846
101Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.20123344
102Rheumatoid arthritis_Homo sapiens_hsa053230.16108071
103Maturity onset diabetes of the young_Homo sapiens_hsa049500.15590753
104Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.15583548
105Caffeine metabolism_Homo sapiens_hsa002320.13725072
106Shigellosis_Homo sapiens_hsa051310.13553386
107RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.13467447
108Biosynthesis of amino acids_Homo sapiens_hsa012300.12956699
109Legionellosis_Homo sapiens_hsa051340.12290153
110Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.11971336
111Transcriptional misregulation in cancer_Homo sapiens_hsa052020.11201691
112Galactose metabolism_Homo sapiens_hsa000520.10843862
113Collecting duct acid secretion_Homo sapiens_hsa049660.10096168
114Apoptosis_Homo sapiens_hsa042100.09594977
115T cell receptor signaling pathway_Homo sapiens_hsa046600.09161673
116Alcoholism_Homo sapiens_hsa050340.07832377
117NOD-like receptor signaling pathway_Homo sapiens_hsa046210.07731538
118Hepatitis B_Homo sapiens_hsa051610.06974019
119TGF-beta signaling pathway_Homo sapiens_hsa043500.06252430
120Vibrio cholerae infection_Homo sapiens_hsa051100.05952975
121Sulfur metabolism_Homo sapiens_hsa009200.05362945
122Circadian rhythm_Homo sapiens_hsa047100.04648735
123Other glycan degradation_Homo sapiens_hsa005110.03204086
124Selenocompound metabolism_Homo sapiens_hsa004500.02979697
125Colorectal cancer_Homo sapiens_hsa052100.02335090

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