MRPL17

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: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)5.61564863
2DNA deamination (GO:0045006)5.37246378
3viral transcription (GO:0019083)5.24639944
4proteasome assembly (GO:0043248)5.21296473
5ribosomal small subunit biogenesis (GO:0042274)5.19071643
6translational termination (GO:0006415)5.13528572
7maturation of SSU-rRNA (GO:0030490)5.10288186
8chaperone-mediated protein transport (GO:0072321)5.08089155
9ribosomal large subunit biogenesis (GO:0042273)4.90608227
10SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.82148007
11cotranslational protein targeting to membrane (GO:0006613)4.72603063
12protein targeting to ER (GO:0045047)4.70207652
13translational elongation (GO:0006414)4.59180123
14establishment of integrated proviral latency (GO:0075713)4.50590505
15protein localization to endoplasmic reticulum (GO:0070972)4.50539231
16establishment of protein localization to endoplasmic reticulum (GO:0072599)4.43951727
17translational initiation (GO:0006413)4.34270007
18formation of translation preinitiation complex (GO:0001731)4.31917007
19ribonucleoprotein complex biogenesis (GO:0022613)4.23470711
20mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.17781748
21* translation (GO:0006412)4.16107565
22viral life cycle (GO:0019058)4.11882679
23negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.11773105
24termination of RNA polymerase III transcription (GO:0006386)4.10266019
25transcription elongation from RNA polymerase III promoter (GO:0006385)4.10266019
26DNA strand elongation involved in DNA replication (GO:0006271)4.07407083
27nucleobase biosynthetic process (GO:0046112)4.04381008
28telomere maintenance via semi-conservative replication (GO:0032201)4.04225410
29mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.03254358
30protein maturation by protein folding (GO:0022417)4.03247269
31respiratory electron transport chain (GO:0022904)4.00069188
32cellular protein complex disassembly (GO:0043624)3.98308249
33rRNA modification (GO:0000154)3.95251500
34deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.95218315
35establishment of viral latency (GO:0019043)3.94361515
36purine nucleobase biosynthetic process (GO:0009113)3.93080637
37nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.91541484
38electron transport chain (GO:0022900)3.88738798
39DNA strand elongation (GO:0022616)3.88101629
40cullin deneddylation (GO:0010388)3.84411212
41positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.84146345
42energy coupled proton transport, down electrochemical gradient (GO:0015985)3.81946286
43ATP synthesis coupled proton transport (GO:0015986)3.81946286
44regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.78617338
45negative regulation of ligase activity (GO:0051352)3.74764559
46negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.74764559
47regulation of cellular amino acid metabolic process (GO:0006521)3.74101425
48anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.72442333
49cellular component biogenesis (GO:0044085)3.71746751
50protein deneddylation (GO:0000338)3.71729684
51ribosome biogenesis (GO:0042254)3.70327689
52protein complex biogenesis (GO:0070271)3.68472681
53mitochondrial respiratory chain complex assembly (GO:0033108)3.68316087
54DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.68302546
55rRNA processing (GO:0006364)3.67940319
56regulation of mitochondrial translation (GO:0070129)3.65954675
57L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.65556935
58signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.62520294
59intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.62520294
60signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.62050714
61signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.62050714
62signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.62050714
63ribosome assembly (GO:0042255)3.57626142
64DNA replication initiation (GO:0006270)3.56013911
65pseudouridine synthesis (GO:0001522)3.55233848
66signal transduction involved in DNA integrity checkpoint (GO:0072401)3.55171541
67signal transduction involved in DNA damage checkpoint (GO:0072422)3.55171541
68spliceosomal snRNP assembly (GO:0000387)3.53319408
69DNA replication checkpoint (GO:0000076)3.53304086
70telomere maintenance via recombination (GO:0000722)3.53190099
71rRNA metabolic process (GO:0016072)3.51254128
72signal transduction involved in cell cycle checkpoint (GO:0072395)3.50106949
73protein localization to mitochondrion (GO:0070585)3.49668094
74antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.47820821
75transcription-coupled nucleotide-excision repair (GO:0006283)3.40673160
76mitotic metaphase plate congression (GO:0007080)3.40427620
77protein complex disassembly (GO:0043241)3.39698834
787-methylguanosine mRNA capping (GO:0006370)3.37427070
79folic acid metabolic process (GO:0046655)3.35960992
80positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.32916083
81respiratory chain complex IV assembly (GO:0008535)3.29025561
827-methylguanosine RNA capping (GO:0009452)3.28529119
83RNA capping (GO:0036260)3.28529119
84L-methionine salvage (GO:0071267)3.27804259
85L-methionine biosynthetic process (GO:0071265)3.27804259
86amino acid salvage (GO:0043102)3.27804259
87nucleobase-containing small molecule interconversion (GO:0015949)3.27108105
88transcription from RNA polymerase I promoter (GO:0006360)3.26992542
89macromolecular complex disassembly (GO:0032984)3.26593902
90CENP-A containing nucleosome assembly (GO:0034080)3.25616162
91antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.24753891
92positive regulation of ligase activity (GO:0051351)3.23012130
93chromatin remodeling at centromere (GO:0031055)3.20523062
94establishment of protein localization to mitochondrion (GO:0072655)3.18285652
95termination of RNA polymerase I transcription (GO:0006363)3.18114064
96spliceosomal complex assembly (GO:0000245)3.17111528
97protein targeting to mitochondrion (GO:0006626)3.17012221
98telomere maintenance via telomere lengthening (GO:0010833)3.16670609
99protein targeting to membrane (GO:0006612)3.16104709
100guanosine-containing compound biosynthetic process (GO:1901070)3.15502149
101GTP biosynthetic process (GO:0006183)3.14315753
102mitotic recombination (GO:0006312)3.13242792
103mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.11500235
104mitochondrial respiratory chain complex I assembly (GO:0032981)3.11500235
105NADH dehydrogenase complex assembly (GO:0010257)3.11500235
106protein neddylation (GO:0045116)3.10517043
107transcription elongation from RNA polymerase I promoter (GO:0006362)3.10127132
108nucleotide-excision repair, DNA gap filling (GO:0006297)3.09752303
109folic acid-containing compound biosynthetic process (GO:0009396)3.08842110
110regulation of ubiquitin-protein transferase activity (GO:0051438)3.08517131
111establishment of protein localization to mitochondrial membrane (GO:0090151)3.07358336
112pteridine-containing compound biosynthetic process (GO:0042559)3.07318464
113oxidative phosphorylation (GO:0006119)3.07185569
114rRNA methylation (GO:0031167)3.06400340
115G1/S transition of mitotic cell cycle (GO:0000082)3.05333216
116cell cycle G1/S phase transition (GO:0044843)3.05333216
117nuclear-transcribed mRNA catabolic process (GO:0000956)3.05106744
118maturation of 5.8S rRNA (GO:0000460)3.01095008
119cytochrome complex assembly (GO:0017004)2.99550674
120pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.98823880
121regulation of ligase activity (GO:0051340)2.97547875
122peptidyl-histidine modification (GO:0018202)2.95548782
123transcription from mitochondrial promoter (GO:0006390)2.95246363
124metaphase plate congression (GO:0051310)2.94323512

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.40798195
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.57528671
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.35618691
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.87949417
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.75077849
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.71668578
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.62363450
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.46191787
9* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.22640283
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.19892173
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.19601081
12MYC_19079543_ChIP-ChIP_MESCs_Mouse3.06117333
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.97623903
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.85172427
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.70670262
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.67680946
17SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.55624491
18* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.50757620
19XRN2_22483619_ChIP-Seq_HELA_Human2.49285994
20ELF1_17652178_ChIP-ChIP_JURKAT_Human2.44519187
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.43128878
22VDR_23849224_ChIP-Seq_CD4+_Human2.40120879
23* E2F4_17652178_ChIP-ChIP_JURKAT_Human2.38953455
24DCP1A_22483619_ChIP-Seq_HELA_Human2.37025015
25* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.32430144
26FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.32160466
27CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.09642821
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.08674198
29YY1_21170310_ChIP-Seq_MESCs_Mouse2.05846384
30SRF_21415370_ChIP-Seq_HL-1_Mouse2.05835745
31* GABP_19822575_ChIP-Seq_HepG2_Human2.02125796
32TTF2_22483619_ChIP-Seq_HELA_Human1.98905191
33* FOXP3_21729870_ChIP-Seq_TREG_Human1.96509388
34NANOG_18555785_ChIP-Seq_MESCs_Mouse1.89311298
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.83786996
36POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.82502791
37MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.78633307
38* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.77269357
39ZNF263_19887448_ChIP-Seq_K562_Human1.72544357
40ELK1_19687146_ChIP-ChIP_HELA_Human1.72035732
41SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.70146648
42FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.66005310
43FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.63601822
44MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.59030360
45* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58583826
46FOXM1_23109430_ChIP-Seq_U2OS_Human1.58468612
47MYCN_18555785_ChIP-Seq_MESCs_Mouse1.58133115
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.55265550
49POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.52283908
50TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.51937682
51FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.48117160
52HOXB4_20404135_ChIP-ChIP_EML_Mouse1.46700554
53* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.45643726
54POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.44490061
55STAT3_1855785_ChIP-Seq_MESCs_Mouse1.44136105
56* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.43338186
57ELK1_22589737_ChIP-Seq_MCF10A_Human1.41011718
58AR_21909140_ChIP-Seq_LNCAP_Human1.40879310
59CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.38539028
60TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.38056106
61HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.36011633
62YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33515734
63ERG_20887958_ChIP-Seq_HPC-7_Mouse1.30032576
64KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.29754900
65CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.27300041
66* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.23643586
67SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.23550512
68E2F1_21310950_ChIP-Seq_MCF-7_Human1.19762219
69KDM5A_27292631_Chip-Seq_BREAST_Human1.17238677
70CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.17156618
71ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.15635041
72SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.15015281
73HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.11097302
74SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.05974202
75SOX2_18692474_ChIP-Seq_MEFs_Mouse1.05703201
76ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.05695694
77CIITA_25753668_ChIP-Seq_RAJI_Human1.05098537
78SOX2_18555785_ChIP-Seq_MESCs_Mouse1.04934946
79OCT4_18692474_ChIP-Seq_MEFs_Mouse1.03736191
80HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.03689044
81KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.03351998
82PADI4_21655091_ChIP-ChIP_MCF-7_Human1.02967658
83MYC_18940864_ChIP-ChIP_HL60_Human1.02740054
84TCF3_18692474_ChIP-Seq_MEFs_Mouse1.01840339
85NOTCH1_21737748_ChIP-Seq_TLL_Human1.01620691
86MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.01056836
87TFEB_21752829_ChIP-Seq_HELA_Human1.00036014
88KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.99170058
89KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.99170058
90KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.99170058
91CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.98782595
92* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.98272278
93SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.98202917
94CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.98004521
95ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.97664671
96PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.97657476
97SOX17_20123909_ChIP-Seq_XEN_Mouse0.94745442
98* TBX5_21415370_ChIP-Seq_HL-1_Mouse0.94273148
99* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.92405963
100RBPJ_22232070_ChIP-Seq_NCS_Mouse0.92017379
101PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.90433335
102* CTCF_18555785_ChIP-Seq_MESCs_Mouse0.89147731
103* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.89097136
104NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.87996882
105SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86815141
106SRY_22984422_ChIP-ChIP_TESTIS_Rat0.86187689
107NANOG_16153702_ChIP-ChIP_HESCs_Human0.85448243
108CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.85247801
109TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.85192043
110KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.84404448
111ELF5_23300383_ChIP-Seq_T47D_Human0.82553940
112DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.81192126
113NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.78732691
114NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.78004341

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.65539476
2MP0003806_abnormal_nucleotide_metabolis4.38132175
3MP0004957_abnormal_blastocyst_morpholog4.28798402
4MP0009379_abnormal_foot_pigmentation3.78671565
5MP0010094_abnormal_chromosome_stability3.47695984
6MP0003111_abnormal_nucleus_morphology3.32305250
7MP0003077_abnormal_cell_cycle3.15095495
8MP0008058_abnormal_DNA_repair3.14899127
9MP0003186_abnormal_redox_activity2.95098421
10MP0008932_abnormal_embryonic_tissue2.93322826
11MP0008007_abnormal_cellular_replicative2.74056041
12MP0008057_abnormal_DNA_replication2.69427793
13MP0003718_maternal_effect2.25806621
14MP0003786_premature_aging2.25335195
15MP0008438_abnormal_cutaneous_collagen2.07397077
16MP0002877_abnormal_melanocyte_morpholog2.06246453
17MP0003123_paternal_imprinting1.86077019
18MP0004272_abnormal_basement_membrane1.71922360
19MP0010030_abnormal_orbit_morphology1.71822348
20MP0006036_abnormal_mitochondrial_physio1.69764387
21MP0001764_abnormal_homeostasis1.67200713
22MP0001730_embryonic_growth_arrest1.63880831
23MP0009697_abnormal_copulation1.60572865
24MP0003950_abnormal_plasma_membrane1.57428370
25MP0001542_abnormal_bone_strength1.55818823
26MP0005257_abnormal_intraocular_pressure1.53652186
27MP0003941_abnormal_skin_development1.52498898
28MP0003315_abnormal_perineum_morphology1.50004709
29MP0004133_heterotaxia1.43630540
30MP0000350_abnormal_cell_proliferation1.37721000
31MP0000490_abnormal_crypts_of1.29298196
32MP0009333_abnormal_splenocyte_physiolog1.29003601
33MP0005075_abnormal_melanosome_morpholog1.28412903
34MP0005623_abnormal_meninges_morphology1.27771972
35MP0002396_abnormal_hematopoietic_system1.27728675
36MP0006292_abnormal_olfactory_placode1.27517616
37MP0000313_abnormal_cell_death1.22263947
38MP0005389_reproductive_system_phenotype1.19373092
39MP0001853_heart_inflammation1.18836210
40MP0001697_abnormal_embryo_size1.18154236
41MP0002160_abnormal_reproductive_system1.17170809
42MP0005330_cardiomyopathy1.14330481
43MP0006035_abnormal_mitochondrial_morpho1.13635748
44MP0000358_abnormal_cell_content/1.12900129
45MP0002080_prenatal_lethality1.11681781
46MP0002837_dystrophic_cardiac_calcinosis1.11111849
47MP0005266_abnormal_metabolism1.09857724
48MP0001661_extended_life_span1.08722358
49MP0000537_abnormal_urethra_morphology1.07437821
50MP0002132_abnormal_respiratory_system1.05908232
51MP0005408_hypopigmentation1.05025906
52MP0000749_muscle_degeneration1.04995271
53MP0001672_abnormal_embryogenesis/_devel1.02653945
54MP0005380_embryogenesis_phenotype1.02653945
55MP0002938_white_spotting1.02649709
56MP0002019_abnormal_tumor_incidence1.02607181
57MP0005379_endocrine/exocrine_gland_phen1.02021865
58MP0001919_abnormal_reproductive_system1.01270807
59MP0004147_increased_porphyrin_level0.98930836
60MP0005084_abnormal_gallbladder_morpholo0.98589113
61MP0009053_abnormal_anal_canal0.97982412
62MP0004233_abnormal_muscle_weight0.97325000
63MP0002084_abnormal_developmental_patter0.96453674
64MP0003195_calcinosis0.95755925
65MP0003011_delayed_dark_adaptation0.94620419
66MP0005332_abnormal_amino_acid0.94457693
67MP0002697_abnormal_eye_size0.92565859
68MP0002796_impaired_skin_barrier0.91495485
69MP0001881_abnormal_mammary_gland0.90473626
70MP0009250_abnormal_appendicular_skeleto0.89942162
71MP0003937_abnormal_limbs/digits/tail_de0.89642911
72MP0000750_abnormal_muscle_regeneration0.89147206
73MP0005165_increased_susceptibility_to0.88644362
74MP0005376_homeostasis/metabolism_phenot0.88585544
75MP0003984_embryonic_growth_retardation0.87682720
76MP0002085_abnormal_embryonic_tissue0.87267748
77MP0003566_abnormal_cell_adhesion0.87074819
78MP0001727_abnormal_embryo_implantation0.86725207
79MP0002060_abnormal_skin_morphology0.86342272
80MP0010352_gastrointestinal_tract_polyps0.86198534
81MP0002088_abnormal_embryonic_growth/wei0.85803666
82MP0005197_abnormal_uvea_morphology0.84256404
83MP0002210_abnormal_sex_determination0.83074777
84MP0003567_abnormal_fetal_cardiomyocyte0.82161813
85MP0000858_altered_metastatic_potential0.81376814
86MP0006054_spinal_hemorrhage0.80411990
87MP0001346_abnormal_lacrimal_gland0.79205747
88MP0000049_abnormal_middle_ear0.79160159
89MP0001145_abnormal_male_reproductive0.77491327
90MP0002177_abnormal_outer_ear0.76794983
91MP0001293_anophthalmia0.75033518
92MP0005395_other_phenotype0.74762380
93MP0001986_abnormal_taste_sensitivity0.73826607
94MP0002638_abnormal_pupillary_reflex0.73030374
95MP0000678_abnormal_parathyroid_gland0.73015684
96MP0001119_abnormal_female_reproductive0.72893968
97MP0003942_abnormal_urinary_system0.72883803
98MP0005319_abnormal_enzyme/_coenzyme0.72724283
99MP0005023_abnormal_wound_healing0.72206456
100MP0002111_abnormal_tail_morphology0.72157914
101MP0003705_abnormal_hypodermis_morpholog0.69338396
102MP0010307_abnormal_tumor_latency0.69152901
103MP0003724_increased_susceptibility_to0.69121679
104MP0005220_abnormal_exocrine_pancreas0.67480936
105MP0006072_abnormal_retinal_apoptosis0.67363559
106MP0003119_abnormal_digestive_system0.66995798
107MP0000627_abnormal_mammary_gland0.66609381
108MP0003385_abnormal_body_wall0.65730292
109MP0005193_abnormal_anterior_eye0.65237370
110MP0002295_abnormal_pulmonary_circulatio0.65110164
111MP0002282_abnormal_trachea_morphology0.64795832
112MP0002751_abnormal_autonomic_nervous0.64726588
113MP0009643_abnormal_urine_homeostasis0.64638993
114MP0002086_abnormal_extraembryonic_tissu0.64631515
115MP0009672_abnormal_birth_weight0.63992733
116MP0010368_abnormal_lymphatic_system0.63820615
117MP0001186_pigmentation_phenotype0.63615344
118MP0003136_yellow_coat_color0.62639891
119MP0005501_abnormal_skin_physiology0.62324306
120MP0000343_altered_response_to0.62142542
121MP0000653_abnormal_sex_gland0.61388538
122MP0000762_abnormal_tongue_morphology0.60314956
123MP0001243_abnormal_dermal_layer0.60299716
124MP0005085_abnormal_gallbladder_physiolo0.59674276
125MP0004197_abnormal_fetal_growth/weight/0.58816135
126MP0005503_abnormal_tendon_morphology0.58704431
127MP0002277_abnormal_respiratory_mucosa0.58013994
128MP0003936_abnormal_reproductive_system0.57700782
129MP0009840_abnormal_foam_cell0.57470064
130MP0002139_abnormal_hepatobiliary_system0.57318708
131MP0000598_abnormal_liver_morphology0.55042239
132MP0002163_abnormal_gland_morphology0.53885402
133MP0000372_irregular_coat_pigmentation0.53571422
134MP0001286_abnormal_eye_development0.53557566
135MP0000613_abnormal_salivary_gland0.53439326
136MP0001756_abnormal_urination0.53240970
137MP0004019_abnormal_vitamin_homeostasis0.53039872
138MP0005384_cellular_phenotype0.52772956

Predicted human phenotypes

RankGene SetZ-score
1Reticulocytopenia (HP:0001896)4.64389180
2Abnormality of cells of the erythroid lineage (HP:0012130)4.45923171
3Abnormal number of erythroid precursors (HP:0012131)4.27644613
4Acute necrotizing encephalopathy (HP:0006965)4.10694387
5Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.10398425
6Decreased activity of mitochondrial respiratory chain (HP:0008972)4.10398425
7Hepatocellular necrosis (HP:0001404)4.08063798
8Hepatic necrosis (HP:0002605)4.04342938
9Mitochondrial inheritance (HP:0001427)3.97242846
10Birth length less than 3rd percentile (HP:0003561)3.91745075
11Breast hypoplasia (HP:0003187)3.83217649
12Increased CSF lactate (HP:0002490)3.72390227
13Abnormal mitochondria in muscle tissue (HP:0008316)3.72003162
14Macrocytic anemia (HP:0001972)3.63857380
153-Methylglutaconic aciduria (HP:0003535)3.62242068
16Acute encephalopathy (HP:0006846)3.49689162
17Aplasia/Hypoplasia of the sacrum (HP:0008517)3.39228593
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.39035469
19Increased serum lactate (HP:0002151)3.37544056
20Oral leukoplakia (HP:0002745)3.28789275
21Rough bone trabeculation (HP:0100670)3.25841327
22Carpal bone hypoplasia (HP:0001498)3.21991033
23Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.19986346
24Cerebral hypomyelination (HP:0006808)3.12186824
25Increased hepatocellular lipid droplets (HP:0006565)3.10816329
26Progressive macrocephaly (HP:0004481)3.10200544
27Pallor (HP:0000980)3.01079076
28Lipid accumulation in hepatocytes (HP:0006561)3.00414750
29Aplastic anemia (HP:0001915)2.94593682
30Testicular atrophy (HP:0000029)2.89449386
31Type I transferrin isoform profile (HP:0003642)2.82301020
32Trismus (HP:0000211)2.80381825
33Microvesicular hepatic steatosis (HP:0001414)2.75801419
34Lactic acidosis (HP:0003128)2.73907554
35Cerebral edema (HP:0002181)2.70897735
36Secondary amenorrhea (HP:0000869)2.68545827
37Exercise intolerance (HP:0003546)2.68253104
38Respiratory failure (HP:0002878)2.68048538
39Multiple enchondromatosis (HP:0005701)2.66641889
40Degeneration of anterior horn cells (HP:0002398)2.65303908
41Abnormality of the anterior horn cell (HP:0006802)2.65303908
42Microretrognathia (HP:0000308)2.62820519
43Sparse eyelashes (HP:0000653)2.56253680
44Colon cancer (HP:0003003)2.55864795
45Exertional dyspnea (HP:0002875)2.53884551
46Abnormal trabecular bone morphology (HP:0100671)2.51909923
47Amniotic constriction ring (HP:0009775)2.47578703
48Abnormality of placental membranes (HP:0011409)2.47578703
49Abnormality of alanine metabolism (HP:0010916)2.47413036
50Hyperalaninemia (HP:0003348)2.47413036
51Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.47413036
52Abnormality of pyrimidine metabolism (HP:0004353)2.40107891
53Renal Fanconi syndrome (HP:0001994)2.39336798
54Increased intramyocellular lipid droplets (HP:0012240)2.37861879
55CNS demyelination (HP:0007305)2.34050114
56Abnormality of methionine metabolism (HP:0010901)2.30692159
57Premature graying of hair (HP:0002216)2.30132550
58Abnormality of glycolysis (HP:0004366)2.29447313
59Increased serum pyruvate (HP:0003542)2.29447313
60Poor head control (HP:0002421)2.25753324
61Premature rupture of membranes (HP:0001788)2.24573435
62Nausea (HP:0002018)2.24272457
63Selective tooth agenesis (HP:0001592)2.20609331
64Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.20187088
65Lethargy (HP:0001254)2.19363337
66Increased muscle lipid content (HP:0009058)2.19311088
6711 pairs of ribs (HP:0000878)2.19269410
68Reduced antithrombin III activity (HP:0001976)2.19263498
69Abnormality of renal resorption (HP:0011038)2.14821045
70Patellar aplasia (HP:0006443)2.14053993
71Chromosomal breakage induced by crosslinking agents (HP:0003221)2.13097592
72Pancytopenia (HP:0001876)2.12623813
73Absent thumb (HP:0009777)2.09396111
74Entropion (HP:0000621)2.08720575
75Aplasia/Hypoplasia of the patella (HP:0006498)2.08221612
76Congenital, generalized hypertrichosis (HP:0004540)2.06309169
77Abnormal protein glycosylation (HP:0012346)2.06068555
78Abnormal glycosylation (HP:0012345)2.06068555
79Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.06068555
80Abnormal protein N-linked glycosylation (HP:0012347)2.06068555
81Hypoglycemic coma (HP:0001325)2.05673693
82Sensory axonal neuropathy (HP:0003390)2.05641779
83Chromsome breakage (HP:0040012)2.05368297
84Abnormalities of placenta or umbilical cord (HP:0001194)2.05002319
85Meckel diverticulum (HP:0002245)2.04546127
86Irregular epiphyses (HP:0010582)2.03748983
87Premature ovarian failure (HP:0008209)2.00120237
88Progressive muscle weakness (HP:0003323)2.00078408
89Reduced subcutaneous adipose tissue (HP:0003758)1.99864749
90Respiratory difficulties (HP:0002880)1.99734859
91Hypokinesia (HP:0002375)1.99670536
92Megaloblastic anemia (HP:0001889)1.97673893
93Emotional lability (HP:0000712)1.97047451
94Abnormal hemoglobin (HP:0011902)1.96654203
95Hypoplastic pelvis (HP:0008839)1.96497301
96Hyperphosphaturia (HP:0003109)1.96147986
97Methylmalonic aciduria (HP:0012120)1.95939704
98Dicarboxylic aciduria (HP:0003215)1.95930870
99Abnormality of dicarboxylic acid metabolism (HP:0010995)1.95930870
100Triphalangeal thumb (HP:0001199)1.95216208
101Abnormality of the ileum (HP:0001549)1.91223924
102Gout (HP:0001997)1.91162405
103Abnormality of the preputium (HP:0100587)1.89571395
104Absent radius (HP:0003974)1.86760640
105Generalized aminoaciduria (HP:0002909)1.86314774
106Glossoptosis (HP:0000162)1.84252818
107Hypoplasia of the radius (HP:0002984)1.82752360
108Horseshoe kidney (HP:0000085)1.82082314
109Aplasia/hypoplasia of the uterus (HP:0008684)1.81695018
110Methylmalonic acidemia (HP:0002912)1.80602662
111Aplasia/Hypoplasia involving the musculature (HP:0001460)1.79521177
112Bone marrow hypocellularity (HP:0005528)1.79074914
113Leukodystrophy (HP:0002415)1.78979721
114Abnormality of the umbilical cord (HP:0010881)1.77786405
115Hyperglycinemia (HP:0002154)1.76094923
116Abnormality of the heme biosynthetic pathway (HP:0010472)1.75089816
117Squamous cell carcinoma (HP:0002860)1.74579433
118Glycosuria (HP:0003076)1.74328283
119Abnormality of urine glucose concentration (HP:0011016)1.74328283
120Abnormality of aromatic amino acid family metabolism (HP:0004338)1.73813130
121Ragged-red muscle fibers (HP:0003200)1.73440111
122Optic disc pallor (HP:0000543)1.73051081
123Renal tubular dysfunction (HP:0000124)1.73002887
124Abnormality of serum amino acid levels (HP:0003112)1.72488103
125Abnormal umbilical cord blood vessels (HP:0011403)1.72109101
126Single umbilical artery (HP:0001195)1.72109101
127Abnormality of the fetal cardiovascular system (HP:0010948)1.72109101
128Cleft eyelid (HP:0000625)1.71031307
129Neoplasm of the pancreas (HP:0002894)1.70279864
130Hypergonadotropic hypogonadism (HP:0000815)1.70278263
131Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.68252157

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.39678216
2BUB14.67526853
3EIF2AK14.25297224
4WEE14.02478015
5STK163.79924031
6NME23.69700231
7EIF2AK32.81583419
8PIM22.56801251
9SRPK12.48642063
10EPHA22.39891025
11TLK12.36514194
12PBK2.22822030
13TESK22.20158993
14VRK12.17713913
15BCKDK2.12944387
16PDK22.11576871
17NME12.00368899
18TAF11.94236443
19PLK41.94010553
20IRAK31.72387015
21ACVR1B1.68991424
22TSSK61.63449898
23KDR1.60830848
24ZAK1.57103659
25MAP3K111.51986750
26BRSK21.51576672
27MST41.50163638
28CDC71.48521049
29PLK11.37428716
30MAP3K121.37206347
31MST1R1.31500092
32TTK1.30663706
33SMG11.30410561
34CDK71.29952365
35AURKA1.29841125
36EIF2AK21.29049558
37CDK81.23813359
38DYRK31.14231023
39AURKB1.13738847
40BRAF1.08686658
41MKNK11.06542184
42RPS6KB21.05661865
43PLK31.02203250
44PASK1.00744609
45BRSK10.97417407
46ATR0.96181386
47TESK10.95734138
48NEK10.95601504
49INSRR0.95091008
50IRAK40.94683343
51RPS6KA40.92743818
52NUAK10.92197088
53TGFBR10.91102743
54AKT30.89693873
55CHEK20.89122608
56ERBB40.88036624
57DYRK20.85408079
58ARAF0.84868864
59LIMK10.84202036
60LMTK20.83780831
61PAK40.82265519
62CSNK2A10.81379733
63TRIM280.80987483
64ABL20.78265735
65RPS6KA50.76749995
66NEK20.75313005
67CSNK1G30.75076166
68MAP2K20.73694721
69MAP3K30.72240572
70CSNK2A20.72096123
71MAP3K80.71879588
72MKNK20.70866161
73DAPK10.70613105
74ADRBK20.68954483
75PIM10.67921025
76STK38L0.67885024
77PRKCI0.64757327
78TAOK20.60242872
79BLK0.59786109
80IRAK10.59107663
81FLT30.58660310
82MYLK0.57864984
83STK100.57143866
84PAK10.56698180
85AKT20.56690945
86MAPK150.56151689
87CSNK1G10.55485380
88NLK0.55415948
89MET0.53785651
90PTK20.53061042
91EPHB20.51849593
92CSNK1A1L0.51809393
93STK40.48453622
94PRKG20.48216118
95ILK0.46678735
96GRK70.46132404
97LRRK20.45635648
98BMPR1B0.43778876
99CHEK10.43133526
100TEC0.43026367
101CDK90.42723353
102DAPK30.42370434
103MOS0.41790511
104PAK20.39989011
105CSNK1G20.39983869
106IKBKB0.39134390
107CDK40.38643274
108MAP3K90.38019855
109SCYL20.37420690
110STK240.35652982
111STK390.34202137
112MAPKAPK30.32986984
113TYK20.32202180
114CCNB10.30731216
115ATM0.30284606
116GRK10.29877017
117ALK0.29677305
118CDK20.29451836
119WNK40.29169010
120NEK90.28037545
121LATS20.27366921
122YES10.27039293
123CSNK1E0.26580068
124TIE10.26497415
125PNCK0.26280060
126ZAP700.26191149
127MAPKAPK50.25745058
128CDK10.24991722
129PHKG10.24632605
130PHKG20.24632605
131MAP2K30.21832431
132OBSCN0.21647275
133PIK3CG0.19882232
134MAP2K60.19651351

Predicted pathways (KEGG)

RankGene SetZ-score
1* Ribosome_Homo sapiens_hsa030104.79764560
2Proteasome_Homo sapiens_hsa030504.40426723
3DNA replication_Homo sapiens_hsa030303.72971411
4RNA polymerase_Homo sapiens_hsa030203.69782236
5Mismatch repair_Homo sapiens_hsa034303.35688812
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.87478410
7Pyrimidine metabolism_Homo sapiens_hsa002402.65642907
8Oxidative phosphorylation_Homo sapiens_hsa001902.52739881
9Spliceosome_Homo sapiens_hsa030402.52638597
10Protein export_Homo sapiens_hsa030602.45161867
11Homologous recombination_Homo sapiens_hsa034402.37065377
12Parkinsons disease_Homo sapiens_hsa050122.31263768
13Nucleotide excision repair_Homo sapiens_hsa034202.25612116
14Base excision repair_Homo sapiens_hsa034102.20657003
15One carbon pool by folate_Homo sapiens_hsa006702.19830615
16RNA transport_Homo sapiens_hsa030132.12944347
17Folate biosynthesis_Homo sapiens_hsa007901.94047098
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.89227658
19Huntingtons disease_Homo sapiens_hsa050161.82215428
20Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.53195573
21Fanconi anemia pathway_Homo sapiens_hsa034601.52299795
22Basal transcription factors_Homo sapiens_hsa030221.45987683
23Cell cycle_Homo sapiens_hsa041101.43873383
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.41250724
25Non-homologous end-joining_Homo sapiens_hsa034501.38919610
26Purine metabolism_Homo sapiens_hsa002301.38563910
27Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.38029637
28Alzheimers disease_Homo sapiens_hsa050101.34488523
29Sulfur relay system_Homo sapiens_hsa041221.32736102
30Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29623506
31RNA degradation_Homo sapiens_hsa030181.25841896
32Drug metabolism - other enzymes_Homo sapiens_hsa009831.21971346
33Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.19667030
34Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.19195827
35Glutathione metabolism_Homo sapiens_hsa004801.18124562
36Cysteine and methionine metabolism_Homo sapiens_hsa002701.04358288
37Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.01215680
38Cyanoamino acid metabolism_Homo sapiens_hsa004601.00733045
39p53 signaling pathway_Homo sapiens_hsa041150.94391903
40Selenocompound metabolism_Homo sapiens_hsa004500.90970001
41Pentose phosphate pathway_Homo sapiens_hsa000300.89071380
42Biosynthesis of amino acids_Homo sapiens_hsa012300.83022158
43Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.81936194
44Epstein-Barr virus infection_Homo sapiens_hsa051690.80067265
45Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.79639877
46Carbon metabolism_Homo sapiens_hsa012000.77642139
47Metabolic pathways_Homo sapiens_hsa011000.74238368
48Arachidonic acid metabolism_Homo sapiens_hsa005900.73980635
49Fructose and mannose metabolism_Homo sapiens_hsa000510.71816555
50Arginine and proline metabolism_Homo sapiens_hsa003300.70029627
51Galactose metabolism_Homo sapiens_hsa000520.67375036
52Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66205573
53Vitamin B6 metabolism_Homo sapiens_hsa007500.65832914
54Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.63913511
55Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.63751307
56Vibrio cholerae infection_Homo sapiens_hsa051100.61210050
57Systemic lupus erythematosus_Homo sapiens_hsa053220.60350207
582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.59728170
59Pentose and glucuronate interconversions_Homo sapiens_hsa000400.57613702
60Maturity onset diabetes of the young_Homo sapiens_hsa049500.57380879
61Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.55906653
62mRNA surveillance pathway_Homo sapiens_hsa030150.54528619
63Peroxisome_Homo sapiens_hsa041460.54110992
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.53048561
65Sulfur metabolism_Homo sapiens_hsa009200.52041290
66Chemical carcinogenesis_Homo sapiens_hsa052040.51242180
67Fatty acid elongation_Homo sapiens_hsa000620.51240843
68Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.50531625
69Pyruvate metabolism_Homo sapiens_hsa006200.47924260
70Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.47545299
71Phenylalanine metabolism_Homo sapiens_hsa003600.47208960
72Tyrosine metabolism_Homo sapiens_hsa003500.45491209
73Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45030300
74Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.44667002
75Regulation of autophagy_Homo sapiens_hsa041400.43074104
76Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.41016544
77Linoleic acid metabolism_Homo sapiens_hsa005910.39375756
78Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.39026906
79Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.38672483
80Cardiac muscle contraction_Homo sapiens_hsa042600.38449131
81Histidine metabolism_Homo sapiens_hsa003400.36475547
82Alcoholism_Homo sapiens_hsa050340.36367350
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36075755
84Retinol metabolism_Homo sapiens_hsa008300.35451379
85beta-Alanine metabolism_Homo sapiens_hsa004100.35284450
86Propanoate metabolism_Homo sapiens_hsa006400.34883079
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.32393726
88Herpes simplex infection_Homo sapiens_hsa051680.30792313
89Oocyte meiosis_Homo sapiens_hsa041140.30251653
90Vitamin digestion and absorption_Homo sapiens_hsa049770.30018748
91Other glycan degradation_Homo sapiens_hsa005110.29889885
92Collecting duct acid secretion_Homo sapiens_hsa049660.29707910
93Steroid biosynthesis_Homo sapiens_hsa001000.29199098
94Legionellosis_Homo sapiens_hsa051340.27528212
95N-Glycan biosynthesis_Homo sapiens_hsa005100.25350272
96Antigen processing and presentation_Homo sapiens_hsa046120.25047830
97Fatty acid degradation_Homo sapiens_hsa000710.24194197
98SNARE interactions in vesicular transport_Homo sapiens_hsa041300.22406182
99Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.22086568
100Viral carcinogenesis_Homo sapiens_hsa052030.21916318
101Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.20433276
102Arginine biosynthesis_Homo sapiens_hsa002200.20233615
103alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.19868310
104Basal cell carcinoma_Homo sapiens_hsa052170.19341172
105Fat digestion and absorption_Homo sapiens_hsa049750.18085685
106Sphingolipid metabolism_Homo sapiens_hsa006000.17789953
107Tryptophan metabolism_Homo sapiens_hsa003800.16196210
108Mineral absorption_Homo sapiens_hsa049780.15503535
109Thyroid cancer_Homo sapiens_hsa052160.15324348
110Primary bile acid biosynthesis_Homo sapiens_hsa001200.14987903
111Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.14661922
112Fatty acid metabolism_Homo sapiens_hsa012120.14255732
113Central carbon metabolism in cancer_Homo sapiens_hsa052300.14143563
114Steroid hormone biosynthesis_Homo sapiens_hsa001400.13193768
115TGF-beta signaling pathway_Homo sapiens_hsa043500.13173596
116Hippo signaling pathway_Homo sapiens_hsa043900.12886599
117Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.12041300
118Hedgehog signaling pathway_Homo sapiens_hsa043400.09173070
119Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.08554683
120Bladder cancer_Homo sapiens_hsa052190.08098294
121Small cell lung cancer_Homo sapiens_hsa052220.07446503

Most similar genes based on co-expression Upload to Enrichr

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