PSMA7

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 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.92279620
2ribosomal small subunit assembly (GO:0000028)5.61335408
3ribosomal small subunit biogenesis (GO:0042274)5.24415797
4DNA deamination (GO:0045006)5.24289760
5maturation of SSU-rRNA (GO:0030490)5.10295066
6viral transcription (GO:0019083)5.09895702
7translational termination (GO:0006415)5.00205131
8* negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.87965436
9ribosomal large subunit biogenesis (GO:0042273)4.82142759
10mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.77009423
11SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.59291441
12* positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.57934966
13cotranslational protein targeting to membrane (GO:0006613)4.54506277
14protein targeting to ER (GO:0045047)4.49126635
15* regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.46706538
16* negative regulation of ligase activity (GO:0051352)4.46441564
17* negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.46441564
18translational elongation (GO:0006414)4.46335848
19* regulation of cellular amino acid metabolic process (GO:0006521)4.46099113
20ATP synthesis coupled proton transport (GO:0015986)4.42299815
21energy coupled proton transport, down electrochemical gradient (GO:0015985)4.42299815
22* anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.41730342
23respiratory electron transport chain (GO:0022904)4.41586275
24formation of translation preinitiation complex (GO:0001731)4.34365127
25translational initiation (GO:0006413)4.33446356
26electron transport chain (GO:0022900)4.30149822
27transcription elongation from RNA polymerase III promoter (GO:0006385)4.29943866
28termination of RNA polymerase III transcription (GO:0006386)4.29943866
29protein localization to endoplasmic reticulum (GO:0070972)4.29176808
30* DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.28765010
31establishment of protein localization to endoplasmic reticulum (GO:0072599)4.26037904
32* signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)4.22837747
33* signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)4.22837747
34* signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)4.22837747
35* intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)4.20325618
36* signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)4.20325618
37* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:4.17941552
38ribonucleoprotein complex biogenesis (GO:0022613)4.15277628
39* signal transduction involved in DNA damage checkpoint (GO:0072422)4.14618767
40* signal transduction involved in DNA integrity checkpoint (GO:0072401)4.14618767
41translation (GO:0006412)4.12793347
42* signal transduction involved in cell cycle checkpoint (GO:0072395)4.09809906
43cellular protein complex disassembly (GO:0043624)3.99239176
44viral life cycle (GO:0019058)3.98943994
45* positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.93978545
46* antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.93048202
47DNA strand elongation involved in DNA replication (GO:0006271)3.92513738
48nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.88929858
497-methylguanosine mRNA capping (GO:0006370)3.87626965
50deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.86736872
51telomere maintenance via semi-conservative replication (GO:0032201)3.83233608
52protein maturation by protein folding (GO:0022417)3.82010098
53regulation of mitochondrial translation (GO:0070129)3.81908082
54RNA capping (GO:0036260)3.81146592
557-methylguanosine RNA capping (GO:0009452)3.81146592
56* positive regulation of ligase activity (GO:0051351)3.78310643
57cullin deneddylation (GO:0010388)3.75706313
58ribosome assembly (GO:0042255)3.72851901
59DNA strand elongation (GO:0022616)3.71978938
60rRNA processing (GO:0006364)3.69238917
61cellular component biogenesis (GO:0044085)3.67734504
62spliceosomal snRNP assembly (GO:0000387)3.67202977
63purine nucleobase biosynthetic process (GO:0009113)3.66232701
64establishment of protein localization to mitochondrial membrane (GO:0090151)3.64471037
65nucleobase biosynthetic process (GO:0046112)3.63735574
66mitochondrial respiratory chain complex assembly (GO:0033108)3.62268275
67establishment of viral latency (GO:0019043)3.61999396
68protein deneddylation (GO:0000338)3.60370307
69rRNA modification (GO:0000154)3.60104576
70protein localization to mitochondrion (GO:0070585)3.60078118
71nucleobase-containing small molecule interconversion (GO:0015949)3.58036710
72L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.57232915
73rRNA metabolic process (GO:0016072)3.54875714
74pseudouridine synthesis (GO:0001522)3.54573347
75ribosome biogenesis (GO:0042254)3.52868518
76protein neddylation (GO:0045116)3.51624780
77* regulation of ubiquitin-protein transferase activity (GO:0051438)3.46464914
78protein complex disassembly (GO:0043241)3.43712281
79DNA replication checkpoint (GO:0000076)3.42598215
80transcription-coupled nucleotide-excision repair (GO:0006283)3.42501969
81exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.42493577
82pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.42430204
83oxidative phosphorylation (GO:0006119)3.40615366
84telomere maintenance via recombination (GO:0000722)3.40528656
85nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.40207789
86* positive regulation of cell cycle arrest (GO:0071158)3.38790764
87spliceosomal complex assembly (GO:0000245)3.35773989
88* regulation of ligase activity (GO:0051340)3.35447056
89protein targeting to mitochondrion (GO:0006626)3.35245924
90* DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.34411239
91establishment of protein localization to mitochondrion (GO:0072655)3.34023861
92pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.33814133
93establishment of integrated proviral latency (GO:0075713)3.33439557
94mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.32188812
952-deoxyribonucleotide biosynthetic process (GO:0009265)3.32122641
96deoxyribose phosphate biosynthetic process (GO:0046385)3.32122641
97macromolecular complex disassembly (GO:0032984)3.31400411
98chaperone-mediated protein transport (GO:0072321)3.30708498
99DNA replication initiation (GO:0006270)3.29209498
100* regulation of cellular amine metabolic process (GO:0033238)3.27251564
101* G1/S transition of mitotic cell cycle (GO:0000082)3.26256934
102* cell cycle G1/S phase transition (GO:0044843)3.26256934
103transcription elongation from RNA polymerase I promoter (GO:0006362)3.25388952
104mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.25380075
105mitochondrial respiratory chain complex I assembly (GO:0032981)3.25380075
106NADH dehydrogenase complex assembly (GO:0010257)3.25380075
107inner mitochondrial membrane organization (GO:0007007)3.24580080
108CENP-A containing nucleosome assembly (GO:0034080)3.22961593
109* negative regulation of protein ubiquitination (GO:0031397)3.22571630
110deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.22010212
111pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.21046189
112transcription from RNA polymerase I promoter (GO:0006360)3.20156989
113viral mRNA export from host cell nucleus (GO:0046784)3.20106519
114pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.19311813
115termination of RNA polymerase I transcription (GO:0006363)3.17902747
116protein complex biogenesis (GO:0070271)3.16454650
117L-methionine biosynthetic process (GO:0071265)3.15860967
118RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.11906309
119tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.11906309
120guanosine-containing compound biosynthetic process (GO:1901070)3.10242496
121GDP-mannose metabolic process (GO:0019673)3.10096532
122deoxyribonucleotide biosynthetic process (GO:0009263)3.08435394
123* negative regulation of protein modification by small protein conjugation or removal (GO:1903321)3.07054254
124* signal transduction in response to DNA damage (GO:0042770)3.05669558
125chromatin remodeling at centromere (GO:0031055)3.04933297

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.94800694
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.55406907
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.47446275
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.25972609
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.05874954
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.98785482
7EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.98569524
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.73626279
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.53018293
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.42740706
11SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.21606938
12* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.20636789
13HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.00382645
14MYC_19079543_ChIP-ChIP_MESCs_Mouse2.98106242
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.96444757
16* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.93595032
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.85457724
18HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.77511579
19CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.71747482
20VDR_23849224_ChIP-Seq_CD4+_Human2.71449689
21E2F4_17652178_ChIP-ChIP_JURKAT_Human2.70194090
22ELF1_17652178_ChIP-ChIP_JURKAT_Human2.59657235
23XRN2_22483619_ChIP-Seq_HELA_Human2.54536146
24DCP1A_22483619_ChIP-Seq_HELA_Human2.49189664
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.40278979
26* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.37409299
27* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.33597681
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.23275609
29FOXP3_21729870_ChIP-Seq_TREG_Human2.22912487
30SRF_21415370_ChIP-Seq_HL-1_Mouse2.17469388
31GABP_19822575_ChIP-Seq_HepG2_Human2.15686799
32YY1_21170310_ChIP-Seq_MESCs_Mouse2.13194056
33TTF2_22483619_ChIP-Seq_HELA_Human2.10905444
34ELK1_19687146_ChIP-ChIP_HELA_Human2.06869504
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.94482867
36FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.90852976
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.87005441
38ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.79721117
39MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.76695799
40PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.76090828
41POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.73755774
42FOXM1_23109430_ChIP-Seq_U2OS_Human1.71416181
43HOXB4_20404135_ChIP-ChIP_EML_Mouse1.70579366
44PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.69067077
45* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.65768807
46MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.65045971
47NANOG_18555785_ChIP-Seq_MESCs_Mouse1.61762776
48YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58796796
49TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.58510715
50FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.57600464
51ELK1_22589737_ChIP-Seq_MCF10A_Human1.46193826
52ZNF263_19887448_ChIP-Seq_K562_Human1.45215359
53* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.44924388
54CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.44551195
55ERG_20887958_ChIP-Seq_HPC-7_Mouse1.40010147
56AR_21909140_ChIP-Seq_LNCAP_Human1.39678318
57MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.35841842
58CIITA_25753668_ChIP-Seq_RAJI_Human1.35700078
59TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.33689060
60KDM5A_27292631_Chip-Seq_BREAST_Human1.33492288
61POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.29320024
62SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.25755993
63CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.24741351
64BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.21694482
65ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.20865173
66E2F1_21310950_ChIP-Seq_MCF-7_Human1.20563572
67PADI4_21655091_ChIP-ChIP_MCF-7_Human1.19521910
68ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.17890725
69MYC_18940864_ChIP-ChIP_HL60_Human1.15815411
70HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.15396483
71KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.13324408
72SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.09426480
73CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.07281768
74E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.01620646
75TFEB_21752829_ChIP-Seq_HELA_Human1.01164006
76* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.00495536
77POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.99945491
78TET1_21451524_ChIP-Seq_MESCs_Mouse0.98862528
79FOXP1_21924763_ChIP-Seq_HESCs_Human0.96337340
80ESR1_15608294_ChIP-ChIP_MCF-7_Human0.95781695
81SOX17_20123909_ChIP-Seq_XEN_Mouse0.95048825
82NOTCH1_21737748_ChIP-Seq_TLL_Human0.94886020
83SPI1_23547873_ChIP-Seq_NB4_Human0.94764068
84SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.94443563
85TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94086365
86* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.93569903
87KLF4_18555785_ChIP-Seq_MESCs_Mouse0.92428174
88STAT3_1855785_ChIP-Seq_MESCs_Mouse0.91175375
89CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.89790572
90CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89185370
91DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.87514134
92TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.86079348
93SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.85339557
94CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.85229979
95OCT4_18692474_ChIP-Seq_MEFs_Mouse0.84717435
96CTCF_18555785_ChIP-Seq_MESCs_Mouse0.84254237
97GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.84215337
98TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.83450464
99HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.83300699
100FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83293540
101SRY_22984422_ChIP-ChIP_TESTIS_Rat0.83027566
102* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.82965826
103SOX2_18555785_ChIP-Seq_MESCs_Mouse0.82412107
104KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.80761665
105SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79537849
106ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.76226228
107IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.74104728
108KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.73007809
109IRF1_19129219_ChIP-ChIP_H3396_Human0.71743733
110NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.70158784
111TBX5_21415370_ChIP-Seq_HL-1_Mouse0.69229234

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.14064031
2MP0004957_abnormal_blastocyst_morpholog4.64459805
3MP0003111_abnormal_nucleus_morphology3.77785503
4MP0010094_abnormal_chromosome_stability3.69270346
5MP0003077_abnormal_cell_cycle3.65068104
6MP0008058_abnormal_DNA_repair3.36749383
7MP0008932_abnormal_embryonic_tissue3.29652781
8MP0009379_abnormal_foot_pigmentation3.09571626
9MP0003718_maternal_effect2.95766213
10MP0003806_abnormal_nucleotide_metabolis2.95062139
11MP0008057_abnormal_DNA_replication2.92774712
12MP0003186_abnormal_redox_activity2.63392237
13MP0008007_abnormal_cellular_replicative2.44486321
14MP0003786_premature_aging2.27089785
15MP0009333_abnormal_splenocyte_physiolog2.00300831
16MP0006036_abnormal_mitochondrial_physio1.96812200
17MP0006035_abnormal_mitochondrial_morpho1.95370626
18MP0001529_abnormal_vocalization1.91155072
19MP0003315_abnormal_perineum_morphology1.88716579
20MP0002877_abnormal_melanocyte_morpholog1.86042214
21MP0001730_embryonic_growth_arrest1.82442664
22MP0008260_abnormal_autophagy1.78625616
23MP0003123_paternal_imprinting1.65519430
24MP0008877_abnormal_DNA_methylation1.58612650
25MP0000350_abnormal_cell_proliferation1.56917093
26MP0004233_abnormal_muscle_weight1.56269446
27MP0005408_hypopigmentation1.54650893
28MP0000372_irregular_coat_pigmentation1.52039261
29MP0002132_abnormal_respiratory_system1.48007932
30MP0000358_abnormal_cell_content/1.44401913
31MP0000490_abnormal_crypts_of1.44232679
32MP0005075_abnormal_melanosome_morpholog1.43293644
33MP0002396_abnormal_hematopoietic_system1.40661984
34MP0001905_abnormal_dopamine_level1.39799029
35MP0000313_abnormal_cell_death1.39513984
36MP0003941_abnormal_skin_development1.33493589
37MP0001853_heart_inflammation1.31701165
38MP0002938_white_spotting1.31561461
39MP0005501_abnormal_skin_physiology1.29311330
40MP0001986_abnormal_taste_sensitivity1.26289230
41MP0008875_abnormal_xenobiotic_pharmacok1.25260434
42MP0001881_abnormal_mammary_gland1.22865933
43MP0001727_abnormal_embryo_implantation1.21934563
44MP0002160_abnormal_reproductive_system1.21152183
45MP0002019_abnormal_tumor_incidence1.17905242
46MP0002080_prenatal_lethality1.15169558
47MP0001764_abnormal_homeostasis1.13471450
48MP0001697_abnormal_embryo_size1.13319829
49MP0003567_abnormal_fetal_cardiomyocyte1.11490526
50MP0002638_abnormal_pupillary_reflex1.08237953
51MP0006292_abnormal_olfactory_placode1.05288775
52MP0009785_altered_susceptibility_to1.04323437
53MP0002751_abnormal_autonomic_nervous1.03829077
54MP0005171_absent_coat_pigmentation1.03746523
55MP0002163_abnormal_gland_morphology1.03712643
56MP0002148_abnormal_hypersensitivity_rea1.03447559
57MP0005389_reproductive_system_phenotype1.02866364
58MP0005670_abnormal_white_adipose1.01601390
59MP0001542_abnormal_bone_strength1.01240521
60MP0005671_abnormal_response_to1.00140081
61MP0001835_abnormal_antigen_presentation1.00004145
62MP0003136_yellow_coat_color0.98989854
63MP0002090_abnormal_vision0.97536807
64MP0009697_abnormal_copulation0.97151903
65MP0000343_altered_response_to0.95047570
66MP0008789_abnormal_olfactory_epithelium0.94754812
67MP0005380_embryogenesis_phenotype0.91393833
68MP0001672_abnormal_embryogenesis/_devel0.91393833
69MP0005058_abnormal_lysosome_morphology0.91345786
70MP0000749_muscle_degeneration0.90798695
71MP0002210_abnormal_sex_determination0.90162282
72MP0005330_cardiomyopathy0.89724950
73MP0003763_abnormal_thymus_physiology0.88695423
74MP0004381_abnormal_hair_follicle0.86745584
75MP0002722_abnormal_immune_system0.86554587
76MP0000689_abnormal_spleen_morphology0.86219708
77MP0004147_increased_porphyrin_level0.85155486
78MP0003221_abnormal_cardiomyocyte_apopto0.84500601
79MP0005395_other_phenotype0.84334202
80MP0001186_pigmentation_phenotype0.82664012
81MP0002398_abnormal_bone_marrow0.82490933
82MP0002085_abnormal_embryonic_tissue0.81096406
83MP0002429_abnormal_blood_cell0.80051480
84MP0005499_abnormal_olfactory_system0.79913062
85MP0005394_taste/olfaction_phenotype0.79913062
86MP0010030_abnormal_orbit_morphology0.79819735
87MP0002277_abnormal_respiratory_mucosa0.79422467
88MP0002095_abnormal_skin_pigmentation0.79115153
89MP0001145_abnormal_male_reproductive0.78220162
90MP0002102_abnormal_ear_morphology0.78089517
91MP0003984_embryonic_growth_retardation0.76716843
92MP0000703_abnormal_thymus_morphology0.74968761
93MP0000647_abnormal_sebaceous_gland0.74449089
94MP0003656_abnormal_erythrocyte_physiolo0.74349346
95MP0005025_abnormal_response_to0.73826399
96MP0002088_abnormal_embryonic_growth/wei0.73374723
97MP0001919_abnormal_reproductive_system0.72776618
98MP0000627_abnormal_mammary_gland0.72460350
99MP0004133_heterotaxia0.72292929
100MP0005197_abnormal_uvea_morphology0.70271786
101MP0005257_abnormal_intraocular_pressure0.69474108
102MP0000716_abnormal_immune_system0.69442945
103MP0008873_increased_physiological_sensi0.68348639
104MP0000858_altered_metastatic_potential0.67806994
105MP0005384_cellular_phenotype0.67364235
106MP0005584_abnormal_enzyme/coenzyme_acti0.67041378
107MP0005083_abnormal_biliary_tract0.66717305
108MP0005451_abnormal_body_composition0.66670691
109MP0000537_abnormal_urethra_morphology0.66441675
110MP0000653_abnormal_sex_gland0.65963171
111MP0005266_abnormal_metabolism0.65938677
112MP0005000_abnormal_immune_tolerance0.65025687
113MP0002796_impaired_skin_barrier0.64576049
114MP0001819_abnormal_immune_cell0.64019819
115MP0001661_extended_life_span0.63893012
116MP0002420_abnormal_adaptive_immunity0.63715985
117MP0005084_abnormal_gallbladder_morpholo0.62430807
118MP0000750_abnormal_muscle_regeneration0.62414631
119MP0005193_abnormal_anterior_eye0.61992433
120MP0001293_anophthalmia0.61919792
121MP0002177_abnormal_outer_ear0.61704679
122MP0001119_abnormal_female_reproductive0.61651218
123MP0005319_abnormal_enzyme/_coenzyme0.60954317
124MP0002075_abnormal_coat/hair_pigmentati0.60920246
125MP0002736_abnormal_nociception_after0.60875802
126MP0003121_genomic_imprinting0.60418378
127MP0002234_abnormal_pharynx_morphology0.60385014
128MP0003646_muscle_fatigue0.60351385
129MP0009672_abnormal_birth_weight0.59804589
130MP0005332_abnormal_amino_acid0.59687304
131MP0001929_abnormal_gametogenesis0.59640081
132MP0003011_delayed_dark_adaptation0.59631634
133MP0002723_abnormal_immune_serum0.59585615
134MP0002452_abnormal_antigen_presenting0.59044910
135MP0000015_abnormal_ear_pigmentation0.58223712
136MP0009840_abnormal_foam_cell0.57744125
137MP0010352_gastrointestinal_tract_polyps0.57700271
138MP0003191_abnormal_cellular_cholesterol0.55948071
139MP0002269_muscular_atrophy0.55612834

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)5.40330186
2Abnormal number of erythroid precursors (HP:0012131)5.00676003
3Acute necrotizing encephalopathy (HP:0006965)4.86531517
4Mitochondrial inheritance (HP:0001427)4.62338533
5Hepatocellular necrosis (HP:0001404)4.50728970
6Abnormal mitochondria in muscle tissue (HP:0008316)4.41535415
7Reticulocytopenia (HP:0001896)4.40725040
8Increased CSF lactate (HP:0002490)4.21890600
9Hepatic necrosis (HP:0002605)4.09985226
10Birth length less than 3rd percentile (HP:0003561)4.00572021
11Increased hepatocellular lipid droplets (HP:0006565)3.95125817
12Macrocytic anemia (HP:0001972)3.93896534
13Cerebral hypomyelination (HP:0006808)3.86153678
14Acute encephalopathy (HP:0006846)3.83169501
15Decreased activity of mitochondrial respiratory chain (HP:0008972)3.82246597
16Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.82246597
17Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.81915239
18Progressive macrocephaly (HP:0004481)3.77735676
19Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.66690220
203-Methylglutaconic aciduria (HP:0003535)3.65406425
21Increased serum pyruvate (HP:0003542)3.65349077
22Abnormality of glycolysis (HP:0004366)3.65349077
23Increased serum lactate (HP:0002151)3.57754050
24Breast hypoplasia (HP:0003187)3.52913066
25Lipid accumulation in hepatocytes (HP:0006561)3.49995528
26Pallor (HP:0000980)3.33224677
27Oral leukoplakia (HP:0002745)3.21580918
28Rough bone trabeculation (HP:0100670)3.12194675
29Aplastic anemia (HP:0001915)3.09101001
30Renal Fanconi syndrome (HP:0001994)3.06293698
31Exertional dyspnea (HP:0002875)3.01302186
32Exercise intolerance (HP:0003546)2.99055557
33Respiratory failure (HP:0002878)2.97602953
34Lactic acidosis (HP:0003128)2.93062765
35Type I transferrin isoform profile (HP:0003642)2.86971963
36Carpal bone hypoplasia (HP:0001498)2.86203731
37Microvesicular hepatic steatosis (HP:0001414)2.85874194
38Aplasia/Hypoplasia of the sacrum (HP:0008517)2.85743639
39Increased intramyocellular lipid droplets (HP:0012240)2.77204393
40Degeneration of anterior horn cells (HP:0002398)2.70529351
41Abnormality of the anterior horn cell (HP:0006802)2.70529351
42Cerebral edema (HP:0002181)2.68648102
43Multiple enchondromatosis (HP:0005701)2.67698582
44Ragged-red muscle fibers (HP:0003200)2.66076034
45Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.64954869
46Poor head control (HP:0002421)2.61669754
47Hypokinesia (HP:0002375)2.55624360
48Lethargy (HP:0001254)2.53636252
49CNS demyelination (HP:0007305)2.50274836
50Respiratory difficulties (HP:0002880)2.49506355
51Leukodystrophy (HP:0002415)2.39898360
52Trismus (HP:0000211)2.38486384
53Abnormal trabecular bone morphology (HP:0100671)2.37556186
54Testicular atrophy (HP:0000029)2.37121846
55Generalized aminoaciduria (HP:0002909)2.35122254
56Microretrognathia (HP:0000308)2.32701719
57Patellar aplasia (HP:0006443)2.32574017
58Secondary amenorrhea (HP:0000869)2.29420328
59Aplasia/Hypoplasia of the patella (HP:0006498)2.28981089
60Increased muscle lipid content (HP:0009058)2.27972146
61Premature graying of hair (HP:0002216)2.22908777
62CNS hypomyelination (HP:0003429)2.22322703
63Colon cancer (HP:0003003)2.19532066
64Facial cleft (HP:0002006)2.18529687
65Emotional lability (HP:0000712)2.18190325
66Opisthotonus (HP:0002179)2.13876947
67Pancytopenia (HP:0001876)2.13762555
68Abnormality of placental membranes (HP:0011409)2.11431766
69Amniotic constriction ring (HP:0009775)2.11431766
70Horseshoe kidney (HP:0000085)2.08769954
71Cleft eyelid (HP:0000625)2.07681259
72Type 2 muscle fiber atrophy (HP:0003554)2.07359729
73Cellular immunodeficiency (HP:0005374)2.06661958
74Muscle fiber atrophy (HP:0100295)2.06574996
75Absent thumb (HP:0009777)2.03801843
76Abnormality of dicarboxylic acid metabolism (HP:0010995)2.02831864
77Dicarboxylic aciduria (HP:0003215)2.02831864
78Sparse eyelashes (HP:0000653)2.02173262
79Optic disc pallor (HP:0000543)2.01963042
80Parakeratosis (HP:0001036)2.00986075
81Aplasia/hypoplasia of the uterus (HP:0008684)2.00194376
82Cholecystitis (HP:0001082)1.99515210
83Abnormal gallbladder physiology (HP:0012438)1.99515210
84Stenosis of the external auditory canal (HP:0000402)1.99208997
85Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.99130416
8611 pairs of ribs (HP:0000878)1.98968895
87Congenital ichthyosiform erythroderma (HP:0007431)1.98619893
88Premature ovarian failure (HP:0008209)1.98294814
89Megaloblastic anemia (HP:0001889)1.93758173
90Abnormal protein glycosylation (HP:0012346)1.93631897
91Abnormal glycosylation (HP:0012345)1.93631897
92Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.93631897
93Abnormal protein N-linked glycosylation (HP:0012347)1.93631897
94Abnormality of methionine metabolism (HP:0010901)1.92523614
95X-linked dominant inheritance (HP:0001423)1.91085242
96Postnatal microcephaly (HP:0005484)1.90054287
97Aplasia/Hypoplasia involving the musculature (HP:0001460)1.89452002
98Prolonged neonatal jaundice (HP:0006579)1.88946839
99Abnormality of alanine metabolism (HP:0010916)1.88451730
100Hyperalaninemia (HP:0003348)1.88451730
101Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.88451730
102Chromosomal breakage induced by crosslinking agents (HP:0003221)1.87912567
103Abnormality of renal resorption (HP:0011038)1.87362568
104Abnormality of the preputium (HP:0100587)1.84387391
105Neoplasm of head and neck (HP:0012288)1.84282204
106Esophageal neoplasm (HP:0100751)1.84282204
107Progressive muscle weakness (HP:0003323)1.83077449
108Hyperglycinemia (HP:0002154)1.82820666
109Hypoplasia of the capital femoral epiphysis (HP:0003090)1.82616758
110Methylmalonic aciduria (HP:0012120)1.81471132
111Absent radius (HP:0003974)1.81284616
112Selective tooth agenesis (HP:0001592)1.81221728
113Bone marrow hypocellularity (HP:0005528)1.79872709
114Nausea (HP:0002018)1.79102524
115Meckel diverticulum (HP:0002245)1.79072883
116Progressive external ophthalmoplegia (HP:0000590)1.79000862
117Spastic paraparesis (HP:0002313)1.78579768
118Reduced antithrombin III activity (HP:0001976)1.78379686
119Fasciculations (HP:0002380)1.77710414
120Triphalangeal thumb (HP:0001199)1.77699847
121Blindness (HP:0000618)1.74353252
122Death in infancy (HP:0001522)1.73291041
123Progressive microcephaly (HP:0000253)1.72727453
124Abnormality of the umbilical cord (HP:0010881)1.69659903
125Abnormalities of placenta or umbilical cord (HP:0001194)1.69237527
126Gliosis (HP:0002171)1.68643791
127Adrenal hypoplasia (HP:0000835)1.68285413
128Reduced subcutaneous adipose tissue (HP:0003758)1.66742864

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.31103760
2VRK24.25544664
3STK164.20178503
4EIF2AK13.83925304
5WEE13.71585381
6NME23.37328160
7PLK42.69669107
8SRPK12.66043745
9EIF2AK32.54863623
10TSSK62.51185320
11TESK22.26236296
12VRK12.17527942
13NME12.05718806
14PIM22.00949886
15PBK2.00098374
16TLK11.92163211
17ZAK1.91998168
18CDC71.90369329
19PDK21.79930204
20EPHA21.71462912
21IRAK31.65705918
22ARAF1.50728271
23TRIM281.48338770
24LIMK11.48119367
25MST1R1.47647168
26KDR1.47208375
27BRSK21.44635212
28TTK1.38000809
29PLK11.36874474
30MKNK11.36557589
31DYRK31.35515686
32ACVR1B1.32493453
33PLK31.29916132
34PNCK1.25090306
35TESK11.24477382
36BRAF1.24444406
37MST41.23434769
38IRAK41.23380281
39AURKA1.22715449
40DYRK21.15900886
41DAPK11.13700409
42AURKB1.09912574
43RPS6KB21.08462962
44MAP2K71.06962737
45NEK11.05959956
46BLK0.92795157
47EIF2AK20.92345381
48BRSK10.90908639
49CCNB10.90328440
50PASK0.89815583
51NEK20.87448401
52MAP3K110.84519818
53ATR0.84131055
54CDK70.84066352
55RPS6KA40.83133162
56MAP3K120.80268676
57CSNK2A10.78768572
58PAK10.78736735
59CSNK1G20.77997655
60PAK40.77908782
61NUAK10.77677106
62CHEK20.76601329
63CDK190.73660775
64BCR0.71661682
65CSNK1G30.71461563
66MAP3K80.71437196
67BCKDK0.70719453
68SMG10.70616619
69TAF10.70239351
70CSNK2A20.68513121
71RPS6KA50.67998855
72CDK80.67930264
73ILK0.67214012
74MAP4K20.66419706
75PRKCI0.63401642
76MKNK20.63270095
77MYLK0.61641740
78LRRK20.56322607
79MET0.53981519
80STK100.53357178
81TGFBR10.51227879
82STK40.50502773
83PIM10.49825897
84CDK140.49500214
85SCYL20.48902630
86ERBB40.48020173
87CHEK10.47859258
88IRAK20.47105876
89CAMK2G0.46673477
90CLK10.45992834
91AKT20.44747499
92BMPR1B0.43177350
93MINK10.43080114
94MARK10.40921798
95SIK30.40237768
96IKBKB0.39019663
97CDK180.38813455
98TEC0.37744198
99CSNK1G10.37719641
100YES10.36590851
101CDK11A0.36227852
102CDK150.34834872
103IRAK10.34666942
104ADRBK20.33115359
105MAP3K30.32830508
106TAOK20.30643818
107FLT30.30195600
108CDK20.30148798
109LYN0.29606892
110PTK20.29031468
111MAPKAPK50.28374652
112CAMK2D0.27932591
113TXK0.27178369
114ZAP700.26804653
115KIT0.26428085
116MAP2K20.26378122
117DAPK30.24664952
118ATM0.24434444
119MAP4K10.23786871
120* ABL20.23198586
121CDK10.22948823
122OBSCN0.22915784
123EPHB20.20792382
124MAP3K50.20675447
125CSNK1E0.20599785
126MAPKAPK30.19850046
127PIK3CG0.19798901
128MAP2K30.19393399
129CSNK1A1L0.19390692
130CSNK1A10.19139355

Predicted pathways (KEGG)

RankGene SetZ-score
1* Proteasome_Homo sapiens_hsa030505.47265125
2Ribosome_Homo sapiens_hsa030104.91587333
3RNA polymerase_Homo sapiens_hsa030203.92846220
4DNA replication_Homo sapiens_hsa030303.62474526
5Mismatch repair_Homo sapiens_hsa034303.11802181
6Oxidative phosphorylation_Homo sapiens_hsa001903.04109910
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.99885031
8Spliceosome_Homo sapiens_hsa030402.81110227
9Parkinsons disease_Homo sapiens_hsa050122.77369597
10Pyrimidine metabolism_Homo sapiens_hsa002402.65389931
11Homologous recombination_Homo sapiens_hsa034402.42259780
12Nucleotide excision repair_Homo sapiens_hsa034202.35589134
13Protein export_Homo sapiens_hsa030602.34722283
14RNA transport_Homo sapiens_hsa030132.25489636
15Base excision repair_Homo sapiens_hsa034102.17532682
16Huntingtons disease_Homo sapiens_hsa050162.14646554
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.78290279
18Alzheimers disease_Homo sapiens_hsa050101.74450690
19Basal transcription factors_Homo sapiens_hsa030221.64768834
20Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.64108268
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.63655311
22One carbon pool by folate_Homo sapiens_hsa006701.62637914
23Cell cycle_Homo sapiens_hsa041101.54360555
24RNA degradation_Homo sapiens_hsa030181.47692424
25Fanconi anemia pathway_Homo sapiens_hsa034601.44790672
26Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.41288654
27Purine metabolism_Homo sapiens_hsa002301.41182016
28Non-homologous end-joining_Homo sapiens_hsa034501.24885436
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.17195120
30Sulfur metabolism_Homo sapiens_hsa009201.17099830
31Folate biosynthesis_Homo sapiens_hsa007901.17029557
32Epstein-Barr virus infection_Homo sapiens_hsa051691.12070089
33Glutathione metabolism_Homo sapiens_hsa004801.01280542
34Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.01265081
35p53 signaling pathway_Homo sapiens_hsa041150.93720962
36Pentose phosphate pathway_Homo sapiens_hsa000300.93446825
37Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87146804
38Cysteine and methionine metabolism_Homo sapiens_hsa002700.84811320
39Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.82796468
40Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.81937706
41Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81453527
42Sulfur relay system_Homo sapiens_hsa041220.78166855
43Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.77998054
44Vitamin B6 metabolism_Homo sapiens_hsa007500.77126775
45Regulation of autophagy_Homo sapiens_hsa041400.75710618
46Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.75552340
47Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.75399487
48Drug metabolism - other enzymes_Homo sapiens_hsa009830.74899408
49mRNA surveillance pathway_Homo sapiens_hsa030150.73000672
50Propanoate metabolism_Homo sapiens_hsa006400.69052624
51Metabolic pathways_Homo sapiens_hsa011000.65785020
52Systemic lupus erythematosus_Homo sapiens_hsa053220.63134128
53Cardiac muscle contraction_Homo sapiens_hsa042600.62058416
54Peroxisome_Homo sapiens_hsa041460.60398660
55Antigen processing and presentation_Homo sapiens_hsa046120.60308617
56Steroid biosynthesis_Homo sapiens_hsa001000.57138149
57Arachidonic acid metabolism_Homo sapiens_hsa005900.54980424
58Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.54770086
59Fatty acid elongation_Homo sapiens_hsa000620.53293073
60Carbon metabolism_Homo sapiens_hsa012000.52306487
61SNARE interactions in vesicular transport_Homo sapiens_hsa041300.50146119
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49955866
63Legionellosis_Homo sapiens_hsa051340.49598252
64Biosynthesis of amino acids_Homo sapiens_hsa012300.48584298
65Fatty acid metabolism_Homo sapiens_hsa012120.44511107
66Graft-versus-host disease_Homo sapiens_hsa053320.44040526
67Fructose and mannose metabolism_Homo sapiens_hsa000510.43434029
68Herpes simplex infection_Homo sapiens_hsa051680.42183595
69Allograft rejection_Homo sapiens_hsa053300.42128402
70Pentose and glucuronate interconversions_Homo sapiens_hsa000400.37764227
71N-Glycan biosynthesis_Homo sapiens_hsa005100.36021799
722-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.35289454
73Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.35065893
74Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35005625
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34177244
76Primary immunodeficiency_Homo sapiens_hsa053400.33841195
77Cyanoamino acid metabolism_Homo sapiens_hsa004600.33825806
78Arginine and proline metabolism_Homo sapiens_hsa003300.33363226
79Vibrio cholerae infection_Homo sapiens_hsa051100.33095701
80Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.32229531
81Oocyte meiosis_Homo sapiens_hsa041140.31986222
82Asthma_Homo sapiens_hsa053100.31910294
83Viral carcinogenesis_Homo sapiens_hsa052030.31722408
84Shigellosis_Homo sapiens_hsa051310.30541292
85Linoleic acid metabolism_Homo sapiens_hsa005910.29164679
86Collecting duct acid secretion_Homo sapiens_hsa049660.24937784
87Autoimmune thyroid disease_Homo sapiens_hsa053200.24363941
88Pyruvate metabolism_Homo sapiens_hsa006200.22912246
89Galactose metabolism_Homo sapiens_hsa000520.22719159
90Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.21290335
91Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.20992514
92Phagosome_Homo sapiens_hsa041450.20525843
93Intestinal immune network for IgA production_Homo sapiens_hsa046720.20249373
94Selenocompound metabolism_Homo sapiens_hsa004500.20153519
95Fatty acid degradation_Homo sapiens_hsa000710.20086784
96Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.19502955
97Tyrosine metabolism_Homo sapiens_hsa003500.18931898
98Apoptosis_Homo sapiens_hsa042100.16967982
99NOD-like receptor signaling pathway_Homo sapiens_hsa046210.16773901
100Other glycan degradation_Homo sapiens_hsa005110.16379923
101Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.16099885
102Rheumatoid arthritis_Homo sapiens_hsa053230.14960976
103Phenylalanine metabolism_Homo sapiens_hsa003600.14954951
104Sphingolipid metabolism_Homo sapiens_hsa006000.14661013
105beta-Alanine metabolism_Homo sapiens_hsa004100.14305809
106HTLV-I infection_Homo sapiens_hsa051660.13495133
107Ether lipid metabolism_Homo sapiens_hsa005650.12650160
108Butanoate metabolism_Homo sapiens_hsa006500.11946656
109Salmonella infection_Homo sapiens_hsa051320.11558380
110NF-kappa B signaling pathway_Homo sapiens_hsa040640.10660354
111Hematopoietic cell lineage_Homo sapiens_hsa046400.10393741
112Chemical carcinogenesis_Homo sapiens_hsa052040.10224692
113Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.10103235
114Lysosome_Homo sapiens_hsa041420.09364776
115Tryptophan metabolism_Homo sapiens_hsa003800.08997546
116Caffeine metabolism_Homo sapiens_hsa002320.06645644
117Primary bile acid biosynthesis_Homo sapiens_hsa001200.06594179
118Arginine biosynthesis_Homo sapiens_hsa002200.05921139
119Bladder cancer_Homo sapiens_hsa052190.05765647
120Synaptic vesicle cycle_Homo sapiens_hsa047210.05616558
121Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.04199314

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