PSMC1P1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.67970169
2negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)5.33222863
3cullin deneddylation (GO:0010388)5.03843331
4regulation of cellular amino acid metabolic process (GO:0006521)4.98519171
5positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.97703954
6regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.97553083
7protein deneddylation (GO:0000338)4.85781356
8negative regulation of ligase activity (GO:0051352)4.81571212
9negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.81571212
10DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.73160967
11anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.70564432
12signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)4.64474255
13signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)4.64474255
14signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)4.64474255
15signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)4.62894328
16intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)4.62894328
17establishment of integrated proviral latency (GO:0075713)4.51352939
18signal transduction involved in cell cycle checkpoint (GO:0072395)4.47715605
19signal transduction involved in DNA damage checkpoint (GO:0072422)4.45075289
20signal transduction involved in DNA integrity checkpoint (GO:0072401)4.45075289
21positive regulation of ubiquitin-protein transferase activity (GO:0051443)4.23373573
22positive regulation of ligase activity (GO:0051351)4.04419842
23DNA ligation (GO:0006266)4.00945888
24establishment of viral latency (GO:0019043)3.98375155
25ribosome assembly (GO:0042255)3.89713101
26regulation of ubiquitin-protein transferase activity (GO:0051438)3.77820894
27L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.69095737
28antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.67974246
29regulation of ligase activity (GO:0051340)3.63829996
30DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.57120922
31regulation of cellular amine metabolic process (GO:0033238)3.54206607
32establishment of protein localization to mitochondrial membrane (GO:0090151)3.52281877
33mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.47895053
34positive regulation of cell cycle arrest (GO:0071158)3.43686302
35tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.42777189
36RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.42777189
37DNA double-strand break processing (GO:0000729)3.42185547
38CENP-A containing nucleosome assembly (GO:0034080)3.39727642
39spliceosomal snRNP assembly (GO:0000387)3.39434307
40negative regulation of protein ubiquitination (GO:0031397)3.39295578
41antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.37860866
42chromatin remodeling at centromere (GO:0031055)3.35538621
43DNA deamination (GO:0045006)3.33342230
44histone H2A acetylation (GO:0043968)3.31723601
45nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.28832184
46respiratory chain complex IV assembly (GO:0008535)3.28541947
47protein K6-linked ubiquitination (GO:0085020)3.27264110
48negative regulation of protein modification by small protein conjugation or removal (GO:1903321)3.20835458
49exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.20696072
50mitotic metaphase plate congression (GO:0007080)3.17569769
51iron-sulfur cluster assembly (GO:0016226)3.17252313
52metallo-sulfur cluster assembly (GO:0031163)3.17252313
53protein neddylation (GO:0045116)3.12453585
54DNA damage response, detection of DNA damage (GO:0042769)3.12039020
55L-methionine salvage (GO:0071267)3.10683371
56L-methionine biosynthetic process (GO:0071265)3.10683371
57amino acid salvage (GO:0043102)3.10683371
58branched-chain amino acid catabolic process (GO:0009083)3.09458061
59protein complex biogenesis (GO:0070271)3.08495069
60signal transduction in response to DNA damage (GO:0042770)3.08407442
61chaperone-mediated protein transport (GO:0072321)3.07805185
62mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.07391956
63mitochondrial respiratory chain complex I assembly (GO:0032981)3.07391956
64NADH dehydrogenase complex assembly (GO:0010257)3.07391956
65mannosylation (GO:0097502)3.06078970
66tRNA aminoacylation for protein translation (GO:0006418)3.04640310
67purine nucleobase biosynthetic process (GO:0009113)3.04178983
68ubiquinone biosynthetic process (GO:0006744)3.01842204
69negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)3.01670553
70negative regulation of cell cycle G1/S phase transition (GO:1902807)3.01670553
71termination of RNA polymerase III transcription (GO:0006386)3.00267870
72transcription elongation from RNA polymerase III promoter (GO:0006385)3.00267870
73metaphase plate congression (GO:0051310)2.99983012
74protein targeting to mitochondrion (GO:0006626)2.99175480
75ubiquinone metabolic process (GO:0006743)2.98820173
76maturation of 5.8S rRNA (GO:0000460)2.98489737
77cell cycle G1/S phase transition (GO:0044843)2.97967197
78G1/S transition of mitotic cell cycle (GO:0000082)2.97967197
79RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.97766300
80telomere maintenance via semi-conservative replication (GO:0032201)2.96984100
81tRNA aminoacylation (GO:0043039)2.96717330
82amino acid activation (GO:0043038)2.96717330
83double-strand break repair via nonhomologous end joining (GO:0006303)2.96185215
84non-recombinational repair (GO:0000726)2.96185215
85mitochondrial respiratory chain complex assembly (GO:0033108)2.94921946
86DNA strand elongation involved in DNA replication (GO:0006271)2.94435409
87DNA catabolic process, exonucleolytic (GO:0000738)2.93505212
88rRNA modification (GO:0000154)2.92871971
89peptidyl-histidine modification (GO:0018202)2.92317672
90energy coupled proton transport, down electrochemical gradient (GO:0015985)2.91817272
91ATP synthesis coupled proton transport (GO:0015986)2.91817272
92regulation of mitotic spindle checkpoint (GO:1903504)2.86611269
93regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.86611269
94protein localization to mitochondrion (GO:0070585)2.86278514
95regulation of cell cycle arrest (GO:0071156)2.84750825
96DNA strand elongation (GO:0022616)2.84115606
97peptidyl-arginine omega-N-methylation (GO:0035247)2.83723465
98deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.83368912
99histone mRNA metabolic process (GO:0008334)2.82807446
100tricarboxylic acid cycle (GO:0006099)2.82563383

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.48688716
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.57402314
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.42538452
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.94289329
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.73502493
6CREB1_15753290_ChIP-ChIP_HEK293T_Human3.43196095
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.14602716
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.13541912
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.11372666
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.05389861
11E2F7_22180533_ChIP-Seq_HELA_Human3.03969301
12CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.00024859
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.98945004
14ELK1_19687146_ChIP-ChIP_HELA_Human2.96213750
15VDR_23849224_ChIP-Seq_CD4+_Human2.81388144
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.76412563
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.52272908
18EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.51220241
19PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.49355082
20FOXP3_21729870_ChIP-Seq_TREG_Human2.44274145
21DCP1A_22483619_ChIP-Seq_HELA_Human2.43693154
22SRF_21415370_ChIP-Seq_HL-1_Mouse2.41511137
23MYC_18358816_ChIP-ChIP_MESCs_Mouse2.32079404
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.23650185
25GABP_19822575_ChIP-Seq_HepG2_Human2.20424057
26MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.19876827
27PADI4_21655091_ChIP-ChIP_MCF-7_Human2.19113921
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.17704553
29MYC_19030024_ChIP-ChIP_MESCs_Mouse2.16776205
30FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.16534437
31NELFA_20434984_ChIP-Seq_ESCs_Mouse2.12074758
32E2F1_18555785_ChIP-Seq_MESCs_Mouse2.10164765
33ZNF274_21170338_ChIP-Seq_K562_Hela2.06623379
34HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.03000988
35THAP11_20581084_ChIP-Seq_MESCs_Mouse2.01966389
36MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.00775838
37HOXB4_20404135_ChIP-ChIP_EML_Mouse1.95486694
38YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.83220036
39ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.73055162
40FOXM1_23109430_ChIP-Seq_U2OS_Human1.72732703
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.68242203
42YY1_21170310_ChIP-Seq_MESCs_Mouse1.62058278
43MYCN_18555785_ChIP-Seq_MESCs_Mouse1.61400584
44HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.56954954
45TTF2_22483619_ChIP-Seq_HELA_Human1.54605598
46XRN2_22483619_ChIP-Seq_HELA_Human1.52286528
47MYC_18940864_ChIP-ChIP_HL60_Human1.50250987
48KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.41499352
49SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.40904715
50BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.29789961
51ELK1_22589737_ChIP-Seq_MCF10A_Human1.29072448
52MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.29062263
53POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.28050422
54CIITA_25753668_ChIP-Seq_RAJI_Human1.27423982
55IGF1R_20145208_ChIP-Seq_DFB_Human1.25711866
56MYC_19079543_ChIP-ChIP_MESCs_Mouse1.25576064
57EWS_26573619_Chip-Seq_HEK293_Human1.24949025
58CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.21949310
59VDR_22108803_ChIP-Seq_LS180_Human1.18307092
60POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.18075988
61KDM5A_27292631_Chip-Seq_BREAST_Human1.18022899
62NANOG_18555785_ChIP-Seq_MESCs_Mouse1.16420931
63FLI1_27457419_Chip-Seq_LIVER_Mouse1.15960300
64HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.15703437
65SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.15227497
66AR_21909140_ChIP-Seq_LNCAP_Human1.13859696
67IRF1_19129219_ChIP-ChIP_H3396_Human1.12739370
68ZFX_18555785_ChIP-Seq_MESCs_Mouse1.12136377
69GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.11771049
70PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.11416208
71ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.10936565
72FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.10211292
73NOTCH1_21737748_ChIP-Seq_TLL_Human1.08139687
74E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.08118946
75NANOG_16153702_ChIP-ChIP_HESCs_Human1.07641813
76CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.07593330
77ERG_20887958_ChIP-Seq_HPC-7_Mouse1.02048008
78E2F1_21310950_ChIP-Seq_MCF-7_Human1.01336063
79POU3F2_20337985_ChIP-ChIP_501MEL_Human1.01084485
80CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.00321165
81CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.98751096
82IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.95466702
83POU5F1_16153702_ChIP-ChIP_HESCs_Human0.90515639
84TAF15_26573619_Chip-Seq_HEK293_Human0.88368131
85SOX2_16153702_ChIP-ChIP_HESCs_Human0.88211792
86FUS_26573619_Chip-Seq_HEK293_Human0.87620347
87TFEB_21752829_ChIP-Seq_HELA_Human0.86165467
88SOX17_20123909_ChIP-Seq_XEN_Mouse0.85905675
89TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.84750276
90PCGF2_27294783_Chip-Seq_ESCs_Mouse0.84419440
91ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.82739053
92ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.82491096
93TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.80708508
94SALL1_21062744_ChIP-ChIP_HESCs_Human0.80623478
95EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.80043166
96TP53_22573176_ChIP-Seq_HFKS_Human0.79919360
97SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.78932378
98HTT_18923047_ChIP-ChIP_STHdh_Human0.77102532
99PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.76757383
100POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.74248506

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008058_abnormal_DNA_repair4.16232786
2MP0002102_abnormal_ear_morphology3.95371116
3MP0010094_abnormal_chromosome_stability3.89151150
4MP0003693_abnormal_embryo_hatching3.76434709
5MP0000372_irregular_coat_pigmentation3.15925228
6MP0004957_abnormal_blastocyst_morpholog2.95985645
7MP0003806_abnormal_nucleotide_metabolis2.73158365
8MP0003111_abnormal_nucleus_morphology2.67789466
9MP0008932_abnormal_embryonic_tissue2.67604133
10MP0009697_abnormal_copulation2.60871645
11MP0003786_premature_aging2.58001643
12MP0005075_abnormal_melanosome_morpholog2.52438475
13MP0008007_abnormal_cellular_replicative2.50861664
14MP0001529_abnormal_vocalization2.47780777
15MP0003077_abnormal_cell_cycle2.42801778
16MP0006035_abnormal_mitochondrial_morpho2.39703518
17MP0006036_abnormal_mitochondrial_physio2.32882802
18MP0000749_muscle_degeneration2.29027399
19MP0008789_abnormal_olfactory_epithelium2.26556754
20MP0006072_abnormal_retinal_apoptosis2.23571218
21MP0003718_maternal_effect2.14992362
22MP0008877_abnormal_DNA_methylation1.97576121
23MP0003221_abnormal_cardiomyocyte_apopto1.88562172
24MP0000751_myopathy1.71974729
25MP0004147_increased_porphyrin_level1.68371077
26MP0003011_delayed_dark_adaptation1.63268870
27MP0005253_abnormal_eye_physiology1.62011922
28MP0003186_abnormal_redox_activity1.55635938
29MP0005499_abnormal_olfactory_system1.50941056
30MP0005394_taste/olfaction_phenotype1.50941056
31MP0000358_abnormal_cell_content/1.50472985
32MP0002751_abnormal_autonomic_nervous1.47049900
33MP0005084_abnormal_gallbladder_morpholo1.46431081
34MP0001764_abnormal_homeostasis1.39124820
35MP0008995_early_reproductive_senescence1.38614418
36MP0001727_abnormal_embryo_implantation1.35001201
37MP0004145_abnormal_muscle_electrophysio1.33923142
38MP0002938_white_spotting1.28895653
39MP0003567_abnormal_fetal_cardiomyocyte1.24058228
40MP0006276_abnormal_autonomic_nervous1.19741604
41MP0000647_abnormal_sebaceous_gland1.19379263
42MP0001730_embryonic_growth_arrest1.16880742
43MP0004215_abnormal_myocardial_fiber1.16753302
44MP0005645_abnormal_hypothalamus_physiol1.14524624
45MP0006054_spinal_hemorrhage1.09516062
46MP0008260_abnormal_autophagy1.08507046
47MP0002269_muscular_atrophy1.08048309
48MP0005330_cardiomyopathy1.07688356
49MP0002254_reproductive_system_inflammat1.07360590
50MP0001984_abnormal_olfaction1.04300189
51MP0003646_muscle_fatigue1.03859037
52MP0002234_abnormal_pharynx_morphology1.01791261
53MP0000516_abnormal_urinary_system1.01679286
54MP0005367_renal/urinary_system_phenotyp1.01679286
55MP0002090_abnormal_vision1.01391454
56MP0001293_anophthalmia1.00191994
57MP0003195_calcinosis0.99649598
58MP0002736_abnormal_nociception_after0.98199453
59MP0005171_absent_coat_pigmentation0.96955288
60MP0003137_abnormal_impulse_conducting0.94136715
61MP0001905_abnormal_dopamine_level0.92580696
62MP0002282_abnormal_trachea_morphology0.90465858
63MP0003121_genomic_imprinting0.89038331
64MP0001243_abnormal_dermal_layer0.85652550
65MP0001929_abnormal_gametogenesis0.84938015
66MP0001697_abnormal_embryo_size0.83815514
67MP0002080_prenatal_lethality0.82955311
68MP0004084_abnormal_cardiac_muscle0.82740603
69MP0002332_abnormal_exercise_endurance0.81013696
70MP0002019_abnormal_tumor_incidence0.79026911
71MP0002210_abnormal_sex_determination0.78214062
72MP0002233_abnormal_nose_morphology0.77902507
73MP0008872_abnormal_physiological_respon0.77876134
74MP0004133_heterotaxia0.77635613
75MP0006292_abnormal_olfactory_placode0.75820538
76MP0005266_abnormal_metabolism0.75452509
77MP0003950_abnormal_plasma_membrane0.73910932
78MP0000653_abnormal_sex_gland0.72753005
79MP0004197_abnormal_fetal_growth/weight/0.72380910
80MP0000747_muscle_weakness0.72269584
81MP0000049_abnormal_middle_ear0.72041366
82MP0000350_abnormal_cell_proliferation0.71912696
83MP0001145_abnormal_male_reproductive0.69651292
84MP0001119_abnormal_female_reproductive0.69585884
85MP0003937_abnormal_limbs/digits/tail_de0.68470609
86MP0005408_hypopigmentation0.68040558
87MP0002837_dystrophic_cardiac_calcinosis0.67059450
88MP0005391_vision/eye_phenotype0.65311355
89MP0008873_increased_physiological_sensi0.65012128
90MP0000313_abnormal_cell_death0.64534248
91MP0002106_abnormal_muscle_physiology0.64512411
92MP0001672_abnormal_embryogenesis/_devel0.64488016
93MP0005380_embryogenesis_phenotype0.64488016
94MP0003880_abnormal_central_pattern0.63824475
95MP0008057_abnormal_DNA_replication0.63719468
96MP0005551_abnormal_eye_electrophysiolog0.60822963
97MP0002177_abnormal_outer_ear0.60678429
98MP0002972_abnormal_cardiac_muscle0.58107404
99MP0001324_abnormal_eye_pigmentation0.57924837
100MP0000013_abnormal_adipose_tissue0.56858191

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.15491654
2Hepatocellular necrosis (HP:0001404)4.05538413
3Acute encephalopathy (HP:0006846)3.97647932
4Abnormal mitochondria in muscle tissue (HP:0008316)3.97381779
5Increased serum pyruvate (HP:0003542)3.84709670
6Mitochondrial inheritance (HP:0001427)3.84201281
7Increased CSF lactate (HP:0002490)3.81398867
8Abnormality of glycolysis (HP:0004366)3.77068658
9Hepatic necrosis (HP:0002605)3.71097682
10Progressive macrocephaly (HP:0004481)3.33742406
11Abnormality of the anterior horn cell (HP:0006802)3.14866932
12Degeneration of anterior horn cells (HP:0002398)3.14866932
13Type I transferrin isoform profile (HP:0003642)3.12153511
14Increased serum lactate (HP:0002151)3.10810784
15Cerebral edema (HP:0002181)3.06555395
16Lactic acidosis (HP:0003128)2.96313648
17Increased hepatocellular lipid droplets (HP:0006565)2.94366192
18Abnormal protein glycosylation (HP:0012346)2.92486096
19Abnormal glycosylation (HP:0012345)2.92486096
20Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.92486096
21Abnormal protein N-linked glycosylation (HP:0012347)2.92486096
22Lipid accumulation in hepatocytes (HP:0006561)2.89499639
23Microvesicular hepatic steatosis (HP:0001414)2.89266847
24Exercise-induced muscle cramps (HP:0003710)2.84628521
25Type 2 muscle fiber atrophy (HP:0003554)2.78570515
26Decreased activity of mitochondrial respiratory chain (HP:0008972)2.76070575
27Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.76070575
28Exercise intolerance (HP:0003546)2.70048093
29Abnormality of the labia minora (HP:0012880)2.66816860
30Atrophy/Degeneration involving motor neurons (HP:0007373)2.62085857
31True hermaphroditism (HP:0010459)2.57764153
32Pancreatic cysts (HP:0001737)2.57236760
33Hyperglycinemia (HP:0002154)2.56101592
34Increased intramyocellular lipid droplets (HP:0012240)2.56005552
35Short tibia (HP:0005736)2.53223426
36Medial flaring of the eyebrow (HP:0010747)2.48880349
37Muscle fiber atrophy (HP:0100295)2.46607294
38Nemaline bodies (HP:0003798)2.46346782
39Reduced antithrombin III activity (HP:0001976)2.45588999
40Respiratory failure (HP:0002878)2.44564878
41Pancreatic fibrosis (HP:0100732)2.44429982
42Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.42010800
43Abnormality of alanine metabolism (HP:0010916)2.42010800
44Hyperalaninemia (HP:0003348)2.42010800
45Abnormality of placental membranes (HP:0011409)2.37984196
46Amniotic constriction ring (HP:0009775)2.37984196
47Methylmalonic acidemia (HP:0002912)2.35251211
483-Methylglutaconic aciduria (HP:0003535)2.26897016
49Abnormality of serum amino acid levels (HP:0003112)2.26684537
50CNS demyelination (HP:0007305)2.25316201
51Postnatal microcephaly (HP:0005484)2.20938874
52Abnormality of glycine metabolism (HP:0010895)2.20675751
53Abnormality of serine family amino acid metabolism (HP:0010894)2.20675751
54Methylmalonic aciduria (HP:0012120)2.17896122
55Lethargy (HP:0001254)2.17886499
56Multiple enchondromatosis (HP:0005701)2.16776966
57Increased muscle lipid content (HP:0009058)2.16748915
58Abnormality of midbrain morphology (HP:0002418)2.14838224
59Molar tooth sign on MRI (HP:0002419)2.14838224
60Emotional lability (HP:0000712)2.14813211
61Congenital primary aphakia (HP:0007707)2.14492499
62Meckel diverticulum (HP:0002245)2.13708481
63Cerebral hypomyelination (HP:0006808)2.13065069
64Aplasia/Hypoplasia of the tibia (HP:0005772)2.09968209
65Abnormal gallbladder physiology (HP:0012438)2.08772127
66Cholecystitis (HP:0001082)2.08772127
67Renal Fanconi syndrome (HP:0001994)2.07729039
68Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.06650313
69Nephrogenic diabetes insipidus (HP:0009806)2.05911952
70Abnormality of the ileum (HP:0001549)2.05093986
71Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.02525667
72Hyperglycinuria (HP:0003108)2.01229507
73Optic disc pallor (HP:0000543)1.97838626
74Aplasia/Hypoplasia of the tongue (HP:0010295)1.97504089
75Muscle fiber inclusion bodies (HP:0100299)1.97157827
76Gait imbalance (HP:0002141)1.95661670
77Retinal dysplasia (HP:0007973)1.92845830
78Neoplasm of the adrenal gland (HP:0100631)1.92245671
79Abnormality of the preputium (HP:0100587)1.92196298
80Dicarboxylic aciduria (HP:0003215)1.90902650
81Abnormality of dicarboxylic acid metabolism (HP:0010995)1.90902650
82Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.90901304
83Colon cancer (HP:0003003)1.90642796
84Neonatal respiratory distress (HP:0002643)1.89438096
85Abnormal lung lobation (HP:0002101)1.89166150
86Shoulder girdle muscle weakness (HP:0003547)1.88613558
87Aplasia/Hypoplasia of the uvula (HP:0010293)1.87237937
88Limb-girdle muscle atrophy (HP:0003797)1.87133379
89Bifid tongue (HP:0010297)1.85776595
90Progressive inability to walk (HP:0002505)1.84764894
91Rhabdomyolysis (HP:0003201)1.82505826
92Sclerocornea (HP:0000647)1.81541129
93Abnormality of aspartate family amino acid metabolism (HP:0010899)1.80639302
94Generalized aminoaciduria (HP:0002909)1.80580654
95Autoamputation (HP:0001218)1.80066089
96Aplastic anemia (HP:0001915)1.79222450
97Abnormality of the musculature of the pelvis (HP:0001469)1.78056890
98Abnormality of the hip-girdle musculature (HP:0001445)1.78056890
99Prominent metopic ridge (HP:0005487)1.77179315
100Pancytopenia (HP:0001876)1.76741454

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIM284.00744135
2BUB13.74154478
3SRPK13.20098329
4VRK23.14998420
5MAP4K22.64166992
6BCR2.49144235
7NEK12.47260795
8EIF2AK12.41676769
9TSSK62.40786901
10EIF2AK32.34892673
11BCKDK2.22338846
12STK162.20794741
13MST42.10496340
14ERBB32.07817696
15LIMK12.00189362
16TESK21.92299999
17PLK31.90456998
18SIK31.85500027
19ZAK1.79132539
20NUAK11.75892568
21CCNB11.75839648
22PBK1.71516953
23WNK31.70137559
24CSNK1G31.66596523
25VRK11.65408083
26BMPR1B1.62065057
27KDR1.61281555
28TESK11.57197887
29MAP3K121.56548673
30TTK1.48968109
31RPS6KA41.45202291
32CDC71.41152305
33PDK21.34325799
34CSNK1A1L1.33824385
35CSNK1G21.30726459
36CSNK1G11.30232267
37DAPK11.26889143
38MAP2K71.24994085
39MKNK11.24486029
40PLK11.14539464
41PLK41.11344421
42WEE11.07952411
43PLK21.07255176
44MAPKAPK31.05986958
45NME10.98944854
46BRSK20.98029824
47PAK40.96510358
48MKNK20.96024241
49OBSCN0.93716289
50CDK80.91508352
51CDK190.91308589
52DYRK20.86086554
53EIF2AK20.80995491
54AURKB0.78999812
55ATR0.78691171
56SCYL20.76404403
57BRSK10.73497048
58MAP3K40.72040043
59STK38L0.70138149
60TIE10.65629877
61MINK10.62836159
62PINK10.61801512
63FER0.59302428
64STK100.59183695
65MAP3K50.57789800
66GRK10.56482105
67MAPK130.56307932
68MUSK0.55705391
69DYRK30.55343705
70PIM20.52953112
71MYLK0.51777438
72RPS6KA50.50710827
73FLT30.50321188
74CSNK2A10.49960008
75AURKA0.49374027
76TAF10.48860477
77CDK70.46306406
78ADRBK20.43954940
79NME20.43549839
80CDK90.43158960
81CHEK20.40741230
82ATM0.39951535
83ERBB40.39662641
84TAOK30.38962742
85INSRR0.36478743
86CDK140.36406913
87PRKCE0.34269988
88EPHA20.33052961
89PHKG20.32514636
90PHKG10.32514636
91CSNK2A20.31912241
92CSNK1A10.31856975
93CHEK10.30132280
94CDK180.29242505
95PAK10.29237974
96EPHA30.28795311
97PRKCI0.23559676
98MST1R0.21812331
99OXSR10.20784174
100ALK0.18139615

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.70813713
2Protein export_Homo sapiens_hsa030602.82506522
3Mismatch repair_Homo sapiens_hsa034302.69929601
4DNA replication_Homo sapiens_hsa030302.55238824
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.46951897
6Non-homologous end-joining_Homo sapiens_hsa034502.38108635
7Oxidative phosphorylation_Homo sapiens_hsa001902.33699176
82-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.32161305
9RNA polymerase_Homo sapiens_hsa030202.32043771
10Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.28836760
11Parkinsons disease_Homo sapiens_hsa050122.26064008
12Fatty acid elongation_Homo sapiens_hsa000622.19369122
13Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.14175794
14Base excision repair_Homo sapiens_hsa034102.12703740
15Propanoate metabolism_Homo sapiens_hsa006402.11231828
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.09385763
17Spliceosome_Homo sapiens_hsa030402.01986287
18Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.98042792
19Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.96831020
20RNA transport_Homo sapiens_hsa030131.84843720
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.81473073
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.79669363
23Homologous recombination_Homo sapiens_hsa034401.77378280
24Steroid biosynthesis_Homo sapiens_hsa001001.77187019
25Pyrimidine metabolism_Homo sapiens_hsa002401.65840843
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.64626949
27RNA degradation_Homo sapiens_hsa030181.59940507
28Nucleotide excision repair_Homo sapiens_hsa034201.59728932
29Biosynthesis of amino acids_Homo sapiens_hsa012301.57587726
30Basal transcription factors_Homo sapiens_hsa030221.56612993
31Carbon metabolism_Homo sapiens_hsa012001.54864383
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.52047500
33Pyruvate metabolism_Homo sapiens_hsa006201.49403501
34One carbon pool by folate_Homo sapiens_hsa006701.46844644
35Fanconi anemia pathway_Homo sapiens_hsa034601.45477694
36Huntingtons disease_Homo sapiens_hsa050161.44577684
37Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.38156647
38Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.37488084
39Purine metabolism_Homo sapiens_hsa002301.17671003
40Alzheimers disease_Homo sapiens_hsa050101.16689907
41Cell cycle_Homo sapiens_hsa041101.12058078
42Selenocompound metabolism_Homo sapiens_hsa004501.09967451
43Sulfur metabolism_Homo sapiens_hsa009201.08442027
44Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.07500117
45Butanoate metabolism_Homo sapiens_hsa006501.06859881
46Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.05054336
47Peroxisome_Homo sapiens_hsa041461.01299001
48Glutathione metabolism_Homo sapiens_hsa004800.95425205
49Pentose phosphate pathway_Homo sapiens_hsa000300.87459708
50Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.86057894
51Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.82285684
52Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.79986997
53mRNA surveillance pathway_Homo sapiens_hsa030150.77049539
54Fatty acid metabolism_Homo sapiens_hsa012120.75886616
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74793502
56Regulation of autophagy_Homo sapiens_hsa041400.73589795
57Metabolic pathways_Homo sapiens_hsa011000.73010662
58Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.71469431
59beta-Alanine metabolism_Homo sapiens_hsa004100.70698699
60Oocyte meiosis_Homo sapiens_hsa041140.67775992
61Sulfur relay system_Homo sapiens_hsa041220.65006616
62Tryptophan metabolism_Homo sapiens_hsa003800.62891431
63Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.60384543
64Phototransduction_Homo sapiens_hsa047440.60126538
65Collecting duct acid secretion_Homo sapiens_hsa049660.58908383
66Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.58307147
67Cardiac muscle contraction_Homo sapiens_hsa042600.57208646
68Epstein-Barr virus infection_Homo sapiens_hsa051690.56746666
69Primary bile acid biosynthesis_Homo sapiens_hsa001200.55386172
70Pentose and glucuronate interconversions_Homo sapiens_hsa000400.53577689
71N-Glycan biosynthesis_Homo sapiens_hsa005100.53473349
72p53 signaling pathway_Homo sapiens_hsa041150.50920958
73Fatty acid degradation_Homo sapiens_hsa000710.48409978
74Shigellosis_Homo sapiens_hsa051310.48078270
75Folate biosynthesis_Homo sapiens_hsa007900.46250437
76Legionellosis_Homo sapiens_hsa051340.46055667
77Arginine and proline metabolism_Homo sapiens_hsa003300.43303913
78Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.39731168
79Caffeine metabolism_Homo sapiens_hsa002320.36347737
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.35267757
81Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.34882794
82Vibrio cholerae infection_Homo sapiens_hsa051100.34620865
83Primary immunodeficiency_Homo sapiens_hsa053400.33070616
84Drug metabolism - other enzymes_Homo sapiens_hsa009830.29503350
85Nitrogen metabolism_Homo sapiens_hsa009100.25958202
86Galactose metabolism_Homo sapiens_hsa000520.25694029
87Fructose and mannose metabolism_Homo sapiens_hsa000510.25210535
88Chemical carcinogenesis_Homo sapiens_hsa052040.21638695
89Viral myocarditis_Homo sapiens_hsa054160.20367649
90Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.18699315
91Antigen processing and presentation_Homo sapiens_hsa046120.18588280
92Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.16560834
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.16090952
94Herpes simplex infection_Homo sapiens_hsa051680.15101993
95Vitamin B6 metabolism_Homo sapiens_hsa007500.10979191
96Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.10770203
97Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.10655368
98Tyrosine metabolism_Homo sapiens_hsa003500.10493242
99Type I diabetes mellitus_Homo sapiens_hsa049400.08194089
100Phenylalanine metabolism_Homo sapiens_hsa003600.07730728

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