PSMC1P3

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
1ATP synthesis coupled proton transport (GO:0015986)5.37960403
2energy coupled proton transport, down electrochemical gradient (GO:0015985)5.37960403
3protein complex biogenesis (GO:0070271)5.33021463
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.29298419
5behavioral response to nicotine (GO:0035095)5.03732030
6establishment of protein localization to mitochondrial membrane (GO:0090151)4.96772739
7mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.77475464
8mitochondrial respiratory chain complex I assembly (GO:0032981)4.77475464
9NADH dehydrogenase complex assembly (GO:0010257)4.77475464
10mitochondrial respiratory chain complex assembly (GO:0033108)4.70276854
11water-soluble vitamin biosynthetic process (GO:0042364)4.63090764
12ribosomal small subunit assembly (GO:0000028)4.52081707
13mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.41402592
14spliceosomal complex assembly (GO:0000245)4.22005384
15viral transcription (GO:0019083)4.00435662
16translational termination (GO:0006415)3.92632798
17protein K6-linked ubiquitination (GO:0085020)3.79955804
18epithelial cilium movement (GO:0003351)3.79500079
19respiratory electron transport chain (GO:0022904)3.74687062
20negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.72101578
21rRNA modification (GO:0000154)3.70319132
22electron transport chain (GO:0022900)3.67868624
23SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.61855654
24rRNA methylation (GO:0031167)3.60741264
25cotranslational protein targeting to membrane (GO:0006613)3.58032042
26nucleotide-excision repair, DNA gap filling (GO:0006297)3.53024511
27protein targeting to ER (GO:0045047)3.51094874
28spliceosomal snRNP assembly (GO:0000387)3.51062348
29exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.49865974
30nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.44687500
31translational elongation (GO:0006414)3.43141904
32regulation of cellular amino acid metabolic process (GO:0006521)3.41295260
33DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.39113355
34protein localization to endoplasmic reticulum (GO:0070972)3.36628665
35telomere maintenance via semi-conservative replication (GO:0032201)3.33467871
36signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.32721048
37signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.32721048
38signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.32721048
39sequestering of actin monomers (GO:0042989)3.31400556
40establishment of protein localization to endoplasmic reticulum (GO:0072599)3.31294265
41purine nucleoside triphosphate biosynthetic process (GO:0009145)3.30880848
42erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.29845280
43L-phenylalanine catabolic process (GO:0006559)3.29845280
44intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.27850590
45signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.27850590
46cytochrome complex assembly (GO:0017004)3.27013015
47GTP biosynthetic process (GO:0006183)3.26968381
48regulation of mitochondrial translation (GO:0070129)3.25274023
49negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.24467726
50negative regulation of ligase activity (GO:0051352)3.24467726
51aromatic amino acid family catabolic process (GO:0009074)3.21508056
52tryptophan metabolic process (GO:0006568)3.20643182
53positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.19698461
54signal transduction involved in DNA damage checkpoint (GO:0072422)3.18175960
55signal transduction involved in DNA integrity checkpoint (GO:0072401)3.18175960
56epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.18158394
57signal transduction involved in cell cycle checkpoint (GO:0072395)3.17792311
58ribosomal small subunit biogenesis (GO:0042274)3.14183964
59indole-containing compound catabolic process (GO:0042436)3.14097191
60indolalkylamine catabolic process (GO:0046218)3.14097191
61tryptophan catabolic process (GO:0006569)3.14097191
62regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.13541347
63platelet dense granule organization (GO:0060155)3.12390795
64purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.11988079
65chaperone-mediated protein transport (GO:0072321)3.11847466
66L-phenylalanine metabolic process (GO:0006558)3.08769210
67erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.08769210
68ATP biosynthetic process (GO:0006754)3.07257457
69left/right pattern formation (GO:0060972)3.03600019
70maturation of SSU-rRNA (GO:0030490)3.02345877
71hydrogen ion transmembrane transport (GO:1902600)3.01724178
72nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.01489164
73RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.01336271
74tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.01336271
75ribosomal large subunit biogenesis (GO:0042273)3.00574222
76viral life cycle (GO:0019058)2.99338487
77DNA strand elongation involved in DNA replication (GO:0006271)2.99190567
78protein neddylation (GO:0045116)2.98837255
79mismatch repair (GO:0006298)2.98628043
80positive regulation of gastrulation (GO:2000543)2.95140214
81positive regulation of cAMP-mediated signaling (GO:0043950)2.94541255
82cellular protein complex disassembly (GO:0043624)2.92973237
83translation (GO:0006412)2.92305322
84cellular component biogenesis (GO:0044085)2.91692428
85indolalkylamine metabolic process (GO:0006586)2.90257537
86chromatin remodeling at centromere (GO:0031055)2.89390414
87intracellular protein transmembrane import (GO:0044743)2.89326284
88DNA strand elongation (GO:0022616)2.89010964
89anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.84522058
90viral mRNA export from host cell nucleus (GO:0046784)2.83859736
91spindle assembly involved in mitosis (GO:0090307)2.80318190
92UTP biosynthetic process (GO:0006228)2.78695594
93transcription elongation from RNA polymerase III promoter (GO:0006385)2.77309303
94termination of RNA polymerase III transcription (GO:0006386)2.77309303
95ribonucleoside triphosphate biosynthetic process (GO:0009201)2.76836111
96translational initiation (GO:0006413)2.73798419
97CENP-A containing nucleosome assembly (GO:0034080)2.73520992
98oxidative phosphorylation (GO:0006119)2.71643363
99protein-cofactor linkage (GO:0018065)2.71131078
100proton transport (GO:0015992)2.70776573

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.78483344
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.26068937
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.89292063
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.70727667
5HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.28927865
6CREB1_15753290_ChIP-ChIP_HEK293T_Human3.27248790
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.94980969
8ZNF274_21170338_ChIP-Seq_K562_Hela2.74718967
9ETS1_20019798_ChIP-Seq_JURKAT_Human2.68166363
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.66088203
11IRF1_19129219_ChIP-ChIP_H3396_Human2.56099811
12CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.48780084
13MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.44589646
14VDR_23849224_ChIP-Seq_CD4+_Human2.33214844
15EZH2_22144423_ChIP-Seq_EOC_Human2.26956633
16VDR_22108803_ChIP-Seq_LS180_Human2.20413063
17E2F7_22180533_ChIP-Seq_HELA_Human2.20406792
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.18433926
19MYC_18555785_ChIP-Seq_MESCs_Mouse2.09175554
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.09013396
21FOXP3_21729870_ChIP-Seq_TREG_Human2.04730525
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.93564919
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.86486745
24MYC_18940864_ChIP-ChIP_HL60_Human1.86093945
25HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.77522289
26ELK1_19687146_ChIP-ChIP_HELA_Human1.72840198
27MYC_18358816_ChIP-ChIP_MESCs_Mouse1.71018388
28TP53_22573176_ChIP-Seq_HFKS_Human1.68903366
29PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.68297189
30CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.67978410
31HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.64830621
32E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.63358077
33SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.59721398
34FLI1_27457419_Chip-Seq_LIVER_Mouse1.58559583
35PCGF2_27294783_Chip-Seq_ESCs_Mouse1.57433200
36EWS_26573619_Chip-Seq_HEK293_Human1.55272510
37PCGF2_27294783_Chip-Seq_NPCs_Mouse1.53553704
38THAP11_20581084_ChIP-Seq_MESCs_Mouse1.47050974
39NOTCH1_21737748_ChIP-Seq_TLL_Human1.47019440
40TTF2_22483619_ChIP-Seq_HELA_Human1.46844809
41MYC_19030024_ChIP-ChIP_MESCs_Mouse1.45825004
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45078418
43EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.42248117
44XRN2_22483619_ChIP-Seq_HELA_Human1.41331203
45DCP1A_22483619_ChIP-Seq_HELA_Human1.40703308
46FOXA1_27270436_Chip-Seq_PROSTATE_Human1.39351157
47FOXA1_25329375_ChIP-Seq_VCAP_Human1.39351157
48CBP_20019798_ChIP-Seq_JUKART_Human1.38360935
49IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.38360935
50E2F1_18555785_ChIP-Seq_MESCs_Mouse1.33570715
51PADI4_21655091_ChIP-ChIP_MCF-7_Human1.32893376
52EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.31836259
53HTT_18923047_ChIP-ChIP_STHdh_Human1.27545988
54MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.27041544
55CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.26925809
56ELF1_17652178_ChIP-ChIP_JURKAT_Human1.23307552
57HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.22529958
58YY1_21170310_ChIP-Seq_MESCs_Mouse1.22124621
59HOXB4_20404135_ChIP-ChIP_EML_Mouse1.21633974
60ER_23166858_ChIP-Seq_MCF-7_Human1.17379758
61CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.17348377
62NANOG_16153702_ChIP-ChIP_HESCs_Human1.16108570
63ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.15529269
64POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.14294472
65ZFP57_27257070_Chip-Seq_ESCs_Mouse1.12883326
66ELK1_22589737_ChIP-Seq_MCF10A_Human1.11597599
67CTBP2_25329375_ChIP-Seq_LNCAP_Human1.09773950
68KLF5_20875108_ChIP-Seq_MESCs_Mouse1.08906977
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.07799966
70ETV2_25802403_ChIP-Seq_MESCs_Mouse1.07721241
71POU5F1_16153702_ChIP-ChIP_HESCs_Human1.07172842
72GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06268638
73FUS_26573619_Chip-Seq_HEK293_Human1.05569291
74BMI1_23680149_ChIP-Seq_NPCS_Mouse1.05547114
75FOXH1_21741376_ChIP-Seq_EPCs_Human1.04677206
76GATA3_21878914_ChIP-Seq_MCF-7_Human1.04630020
77MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04096150
78GABP_19822575_ChIP-Seq_HepG2_Human1.03130493
79GBX2_23144817_ChIP-Seq_PC3_Human1.02884898
80SOX2_16153702_ChIP-ChIP_HESCs_Human1.02844176
81CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.01839111
82TDRD3_21172665_ChIP-Seq_MCF-7_Human1.01135944
83AR_20517297_ChIP-Seq_VCAP_Human1.00956059
84IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.00584790
85NCOR_22424771_ChIP-Seq_293T_Human0.99965838
86NFE2_27457419_Chip-Seq_LIVER_Mouse0.99878767
87CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.97615005
88AUTS2_25519132_ChIP-Seq_293T-REX_Human0.96314404
89P300_19829295_ChIP-Seq_ESCs_Human0.94558369
90CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93988734
91FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.92845825
92DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.92547208
93SUZ12_27294783_Chip-Seq_NPCs_Mouse0.91290986
94CTCF_18555785_ChIP-Seq_MESCs_Mouse0.91247775
95ERA_21632823_ChIP-Seq_H3396_Human0.90472786
96MYC_19079543_ChIP-ChIP_MESCs_Mouse0.89242463
97ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.88475466
98RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.86849967
99CBX2_27304074_Chip-Seq_ESCs_Mouse0.86447196
100FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.86177586

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis4.69732981
2MP0001986_abnormal_taste_sensitivity4.59764644
3MP0005083_abnormal_biliary_tract3.96480000
4MP0005084_abnormal_gallbladder_morpholo3.77333131
5MP0004145_abnormal_muscle_electrophysio3.76743874
6MP0002653_abnormal_ependyma_morphology3.33797212
7MP0006292_abnormal_olfactory_placode3.23717415
8MP0005365_abnormal_bile_salt3.14444410
9MP0009379_abnormal_foot_pigmentation3.04349448
10MP0002138_abnormal_hepatobiliary_system2.60464197
11MP0003283_abnormal_digestive_organ2.42475182
12MP0002938_white_spotting2.26814638
13MP0003123_paternal_imprinting2.25757904
14MP0000372_irregular_coat_pigmentation2.18609182
15MP0002234_abnormal_pharynx_morphology2.13407711
16MP0005075_abnormal_melanosome_morpholog2.06873427
17MP0008789_abnormal_olfactory_epithelium2.00675933
18MP0005408_hypopigmentation1.96504503
19MP0006072_abnormal_retinal_apoptosis1.91883110
20MP0002163_abnormal_gland_morphology1.84343734
21MP0006276_abnormal_autonomic_nervous1.79529050
22MP0001485_abnormal_pinna_reflex1.76615685
23MP0003693_abnormal_embryo_hatching1.69868110
24MP0002277_abnormal_respiratory_mucosa1.67918324
25MP0002638_abnormal_pupillary_reflex1.64332731
26MP0008995_early_reproductive_senescence1.59112888
27MP0003718_maternal_effect1.52779546
28MP0003880_abnormal_central_pattern1.48943195
29MP0005085_abnormal_gallbladder_physiolo1.46619498
30MP0001293_anophthalmia1.39637667
31MP0005394_taste/olfaction_phenotype1.38838377
32MP0005499_abnormal_olfactory_system1.38838377
33MP0003119_abnormal_digestive_system1.31911389
34MP0008875_abnormal_xenobiotic_pharmacok1.31088096
35MP0003121_genomic_imprinting1.30431017
36MP0005379_endocrine/exocrine_gland_phen1.28995800
37MP0008872_abnormal_physiological_respon1.26727276
38MP0002928_abnormal_bile_duct1.22897237
39MP0001666_abnormal_nutrient_absorption1.20867737
40MP0001984_abnormal_olfaction1.18322618
41MP0005253_abnormal_eye_physiology1.18293282
42MP0003315_abnormal_perineum_morphology1.17580259
43MP0005389_reproductive_system_phenotype1.17509701
44MP0005646_abnormal_pituitary_gland1.14584941
45MP0002160_abnormal_reproductive_system1.14484979
46MP0008007_abnormal_cellular_replicative1.09360470
47MP0005645_abnormal_hypothalamus_physiol1.09074432
48MP0008877_abnormal_DNA_methylation1.07250971
49MP0003195_calcinosis1.05913653
50MP0001905_abnormal_dopamine_level1.04867826
51MP0001529_abnormal_vocalization1.04710394
52MP0010094_abnormal_chromosome_stability1.04694100
53MP0003567_abnormal_fetal_cardiomyocyte1.04645271
54MP0000049_abnormal_middle_ear1.03523366
55MP0003646_muscle_fatigue1.03198659
56MP0000631_abnormal_neuroendocrine_gland1.01373901
57MP0004957_abnormal_blastocyst_morpholog1.01016241
58MP0003786_premature_aging1.00740483
59MP0003878_abnormal_ear_physiology0.96943217
60MP0005377_hearing/vestibular/ear_phenot0.96943217
61MP0000383_abnormal_hair_follicle0.93421809
62MP0002102_abnormal_ear_morphology0.91904125
63MP0001764_abnormal_homeostasis0.90904019
64MP0002272_abnormal_nervous_system0.89612609
65MP0006036_abnormal_mitochondrial_physio0.88540909
66MP0002751_abnormal_autonomic_nervous0.87829641
67MP0001919_abnormal_reproductive_system0.84849119
68MP0002006_tumorigenesis0.84441362
69MP0000566_synostosis0.84227097
70MP0005551_abnormal_eye_electrophysiolog0.83823073
71MP0002282_abnormal_trachea_morphology0.83360033
72MP0003943_abnormal_hepatobiliary_system0.83064581
73MP0004215_abnormal_myocardial_fiber0.81108714
74MP0000613_abnormal_salivary_gland0.80467845
75MP0010386_abnormal_urinary_bladder0.79794685
76MP0001968_abnormal_touch/_nociception0.77586348
77MP0005332_abnormal_amino_acid0.76952208
78MP0006035_abnormal_mitochondrial_morpho0.76214685
79MP0001502_abnormal_circadian_rhythm0.75228288
80MP0008775_abnormal_heart_ventricle0.74465391
81MP0003011_delayed_dark_adaptation0.74196837
82MP0002210_abnormal_sex_determination0.73024895
83MP0002557_abnormal_social/conspecific_i0.72904835
84MP0002693_abnormal_pancreas_physiology0.72083830
85MP0003186_abnormal_redox_activity0.71642202
86MP0002095_abnormal_skin_pigmentation0.71338797
87MP0002733_abnormal_thermal_nociception0.71173828
88MP0004742_abnormal_vestibular_system0.69090770
89MP0003122_maternal_imprinting0.68923465
90MP0005195_abnormal_posterior_eye0.66058135
91MP0005391_vision/eye_phenotype0.65897842
92MP0005220_abnormal_exocrine_pancreas0.64690332
93MP0002295_abnormal_pulmonary_circulatio0.62259307
94MP0003936_abnormal_reproductive_system0.61568954
95MP0001286_abnormal_eye_development0.61393090
96MP0002064_seizures0.60574911
97MP0000026_abnormal_inner_ear0.60543595
98MP0002233_abnormal_nose_morphology0.59456898
99MP0009046_muscle_twitch0.58010190
100MP0002752_abnormal_somatic_nervous0.57699283

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.95150678
2Acute encephalopathy (HP:0006846)4.57990719
3Abnormal mitochondria in muscle tissue (HP:0008316)4.39425507
4Mitochondrial inheritance (HP:0001427)4.06978151
5Type II lissencephaly (HP:0007260)4.03141826
63-Methylglutaconic aciduria (HP:0003535)3.96462088
7Progressive macrocephaly (HP:0004481)3.89994262
8Cerebral edema (HP:0002181)3.56770700
9Increased CSF lactate (HP:0002490)3.52648722
10Retinal dysplasia (HP:0007973)3.49999033
11Reticulocytopenia (HP:0001896)3.25408786
12Aplasia/Hypoplasia of the sacrum (HP:0008517)3.23203019
13Abolished electroretinogram (ERG) (HP:0000550)3.16678099
14Nephronophthisis (HP:0000090)3.10395997
15Hepatocellular necrosis (HP:0001404)3.10363500
16Pancreatic fibrosis (HP:0100732)3.08999350
17Molar tooth sign on MRI (HP:0002419)3.05455498
18Abnormality of midbrain morphology (HP:0002418)3.05455498
19Degeneration of anterior horn cells (HP:0002398)2.94493441
20Abnormality of the anterior horn cell (HP:0006802)2.94493441
21Aplastic anemia (HP:0001915)2.94170634
22Medial flaring of the eyebrow (HP:0010747)2.90826822
23Hepatic necrosis (HP:0002605)2.90696687
24Congenital, generalized hypertrichosis (HP:0004540)2.76857762
25Pancreatic cysts (HP:0001737)2.67857962
26Increased hepatocellular lipid droplets (HP:0006565)2.60508544
27True hermaphroditism (HP:0010459)2.58762567
28Duplicated collecting system (HP:0000081)2.56663101
29Abnormality of the labia minora (HP:0012880)2.55562934
30Abnormality of the renal collecting system (HP:0004742)2.52908855
31Optic disc pallor (HP:0000543)2.49637437
32Lipid accumulation in hepatocytes (HP:0006561)2.36795450
33Redundant skin (HP:0001582)2.36794442
34Abnormality of the renal medulla (HP:0100957)2.34983027
35Tubulointerstitial nephritis (HP:0001970)2.33322428
36Aplasia/Hypoplasia of the uvula (HP:0010293)2.31479365
37Respiratory failure (HP:0002878)2.31354703
38Gonadotropin excess (HP:0000837)2.31240589
39Anophthalmia (HP:0000528)2.30473633
40Broad distal phalanx of finger (HP:0009836)2.26892202
41Hypothermia (HP:0002045)2.24673742
42Multiple enchondromatosis (HP:0005701)2.24272834
43Increased serum lactate (HP:0002151)2.22003917
44Hypoplastic pelvis (HP:0008839)2.18671485
45Abnormality of the preputium (HP:0100587)2.18428270
46Abnormal number of erythroid precursors (HP:0012131)2.17913149
47Abnormality of cells of the erythroid lineage (HP:0012130)2.16085022
48Small hand (HP:0200055)2.14531349
49Absent rod-and cone-mediated responses on ERG (HP:0007688)2.10355333
50Meckel diverticulum (HP:0002245)2.07377499
51Maternal diabetes (HP:0009800)2.07040515
52Lactic acidosis (HP:0003128)2.06774652
53Clubbing of toes (HP:0100760)2.04381063
54Absent thumb (HP:0009777)2.04310382
55Intrahepatic cholestasis (HP:0001406)2.03707864
56Congenital stationary night blindness (HP:0007642)2.03392558
57Lethargy (HP:0001254)2.03226136
58Renal Fanconi syndrome (HP:0001994)2.03171089
59Leukodystrophy (HP:0002415)2.02352959
60Exercise intolerance (HP:0003546)1.99177728
61Anterior segment dysgenesis (HP:0007700)1.98276760
62Type I transferrin isoform profile (HP:0003642)1.94385981
63Optic nerve hypoplasia (HP:0000609)1.93402466
64X-linked dominant inheritance (HP:0001423)1.93001956
65Prostate neoplasm (HP:0100787)1.91964953
66Cystic liver disease (HP:0006706)1.91743118
67Horseshoe kidney (HP:0000085)1.91086970
68Sclerocornea (HP:0000647)1.90594851
69Abnormal rod and cone electroretinograms (HP:0008323)1.90582193
70Tongue fasciculations (HP:0001308)1.89970951
71Cleft eyelid (HP:0000625)1.89546813
72Lissencephaly (HP:0001339)1.87158214
73Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.84420342
74Colon cancer (HP:0003003)1.82815154
75Delayed CNS myelination (HP:0002188)1.82439842
76Abnormality of the ileum (HP:0001549)1.82151813
77Chromsome breakage (HP:0040012)1.81985687
78Chromosomal breakage induced by crosslinking agents (HP:0003221)1.80722355
79Gait imbalance (HP:0002141)1.80426272
80Abnormal protein glycosylation (HP:0012346)1.77337685
81Abnormal glycosylation (HP:0012345)1.77337685
82Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.77337685
83Abnormal protein N-linked glycosylation (HP:0012347)1.77337685
84Bifid tongue (HP:0010297)1.77230364
85Congenital primary aphakia (HP:0007707)1.74790540
86Postaxial foot polydactyly (HP:0001830)1.73035427
87Aplasia/hypoplasia of the uterus (HP:0008684)1.70222020
88Pendular nystagmus (HP:0012043)1.69929923
89Panhypogammaglobulinemia (HP:0003139)1.68613989
90Macrocytic anemia (HP:0001972)1.67988314
91Methylmalonic acidemia (HP:0002912)1.66357240
92Abnormality of aspartate family amino acid metabolism (HP:0010899)1.65075134
93Septo-optic dysplasia (HP:0100842)1.64336143
94Duodenal stenosis (HP:0100867)1.64237783
95Small intestinal stenosis (HP:0012848)1.64237783
96Abnormal respiratory motile cilium morphology (HP:0005938)1.63966747
97Abnormal respiratory epithelium morphology (HP:0012253)1.63966747
98Blindness (HP:0000618)1.63423685
99Postaxial hand polydactyly (HP:0001162)1.63368516
100Median cleft lip (HP:0000161)1.62800991

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BMPR1B5.04805155
2VRK24.14094757
3TIE13.54628899
4EIF2AK13.50074651
5STK162.66813980
6CDK82.62483518
7TLK12.59834360
8BUB12.49906850
9VRK12.48605755
10ZAK2.42422127
11TGFBR12.40540813
12EIF2AK32.23155064
13PASK2.22721184
14BCKDK2.21832799
15NUAK11.95414105
16GRK11.93465361
17TSSK61.88963537
18PLK41.81806945
19NME11.81361028
20PDK21.70170572
21STK241.53655460
22MKNK21.47927944
23TAOK31.40437475
24PLK31.34163573
25ADRBK21.25752767
26SRPK11.24519071
27WNK31.23739394
28ALK1.18630417
29MAP3K91.18477294
30MAPKAPK31.18238915
31MKNK11.10481355
32NME21.06516844
33ABL21.04648424
34TEC1.04121195
35EPHB21.03618212
36PRKD31.02020853
37INSRR0.98566348
38CDC70.94374606
39CSNK1G30.94125674
40PHKG20.93263266
41PHKG10.93263266
42FRK0.91659334
43MST40.91364273
44CSNK1G10.90460111
45GRK70.89740190
46CDK90.81823654
47DYRK20.79308717
48CASK0.76714048
49EIF2AK20.76597635
50MAP4K20.68929957
51CSNK1G20.67966969
52CHEK20.67623483
53PLK20.67380045
54CSNK1A1L0.66347656
55DAPK10.66041000
56TTK0.64875237
57ATR0.63864812
58MATK0.63438805
59CHUK0.59692572
60ADRBK10.59018409
61CSNK1A10.58414156
62TAF10.57565345
63CAMKK20.57110568
64STK30.55893083
65BLK0.54165477
66IKBKB0.53211158
67STK38L0.51643945
68RPS6KA40.49480909
69NEK20.48077745
70MAPK130.47044245
71IRAK10.45387368
72FES0.44965161
73AURKB0.44599691
74KDR0.44519378
75DAPK30.44383113
76PRKCG0.43012276
77CSNK2A20.42220539
78CSNK2A10.41951760
79PTK2B0.40099503
80PLK10.39377319
81LMTK20.38381324
82PRKCQ0.37944320
83OXSR10.37530198
84OBSCN0.35230299
85MAP2K70.34313239
86PRKCD0.33226269
87PRKACA0.31650896
88IRAK40.31135346
89PKN10.30146768
90TXK0.29792930
91AURKA0.29578460
92PRKCE0.28997223
93NLK0.25666680
94GRK50.23499089
95MARK10.23463179
96NEK90.22519758
97CSNK1E0.22463661
98LIMK10.22224760
99MAP3K40.22072206
100ATM0.20634310

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.70096723
2Ribosome_Homo sapiens_hsa030104.14496186
3Oxidative phosphorylation_Homo sapiens_hsa001904.07714124
4Mismatch repair_Homo sapiens_hsa034303.95748653
5Parkinsons disease_Homo sapiens_hsa050123.44591598
6DNA replication_Homo sapiens_hsa030302.61048871
7RNA polymerase_Homo sapiens_hsa030202.33213906
8Primary bile acid biosynthesis_Homo sapiens_hsa001202.21681222
9Huntingtons disease_Homo sapiens_hsa050162.15072307
10Alzheimers disease_Homo sapiens_hsa050102.10134728
11Protein export_Homo sapiens_hsa030601.72720605
12Maturity onset diabetes of the young_Homo sapiens_hsa049501.71694440
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.67505890
14Homologous recombination_Homo sapiens_hsa034401.67212509
15Cardiac muscle contraction_Homo sapiens_hsa042601.66280480
16Spliceosome_Homo sapiens_hsa030401.63297437
17Nucleotide excision repair_Homo sapiens_hsa034201.63288980
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.61135103
19One carbon pool by folate_Homo sapiens_hsa006701.56797876
20RNA degradation_Homo sapiens_hsa030181.56456391
21Base excision repair_Homo sapiens_hsa034101.47639126
22Phototransduction_Homo sapiens_hsa047441.44788321
23Linoleic acid metabolism_Homo sapiens_hsa005911.42967391
24Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.42101625
25Pyrimidine metabolism_Homo sapiens_hsa002401.41037421
26alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.29721950
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.28780980
28Caffeine metabolism_Homo sapiens_hsa002321.26848138
29Purine metabolism_Homo sapiens_hsa002301.21321772
30RNA transport_Homo sapiens_hsa030131.20159825
31Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.18334368
32Collecting duct acid secretion_Homo sapiens_hsa049661.16338200
33Fanconi anemia pathway_Homo sapiens_hsa034601.16082605
34Steroid biosynthesis_Homo sapiens_hsa001001.12354379
35Peroxisome_Homo sapiens_hsa041461.10381162
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.06362972
37Folate biosynthesis_Homo sapiens_hsa007901.05250245
38Tryptophan metabolism_Homo sapiens_hsa003801.04194640
39Chemical carcinogenesis_Homo sapiens_hsa052040.99819979
40Pentose phosphate pathway_Homo sapiens_hsa000300.97086799
41Basal transcription factors_Homo sapiens_hsa030220.96124018
42Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.94354484
43Non-homologous end-joining_Homo sapiens_hsa034500.93698323
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91192159
45Sulfur metabolism_Homo sapiens_hsa009200.90155900
46Biosynthesis of amino acids_Homo sapiens_hsa012300.87049813
47Glutathione metabolism_Homo sapiens_hsa004800.84108084
48Nitrogen metabolism_Homo sapiens_hsa009100.80346125
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.79974553
50Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.78742984
51Fat digestion and absorption_Homo sapiens_hsa049750.78283883
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.76168613
53Arachidonic acid metabolism_Homo sapiens_hsa005900.75578286
54Regulation of autophagy_Homo sapiens_hsa041400.75352703
55Metabolic pathways_Homo sapiens_hsa011000.74637946
56Nicotine addiction_Homo sapiens_hsa050330.74055654
57Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.71266411
58Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.70750335
59Primary immunodeficiency_Homo sapiens_hsa053400.70196727
60Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.68757039
61Sulfur relay system_Homo sapiens_hsa041220.68574372
62Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66689691
63Ether lipid metabolism_Homo sapiens_hsa005650.64587634
64Butanoate metabolism_Homo sapiens_hsa006500.63505481
65Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.61514264
66Selenocompound metabolism_Homo sapiens_hsa004500.61393115
67Fatty acid elongation_Homo sapiens_hsa000620.60845721
68Arginine and proline metabolism_Homo sapiens_hsa003300.58741864
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.57820736
70Retinol metabolism_Homo sapiens_hsa008300.55617483
71Tyrosine metabolism_Homo sapiens_hsa003500.53851484
72Type I diabetes mellitus_Homo sapiens_hsa049400.53757369
73Insulin secretion_Homo sapiens_hsa049110.53196357
74N-Glycan biosynthesis_Homo sapiens_hsa005100.53153533
75Propanoate metabolism_Homo sapiens_hsa006400.52928324
76Arginine biosynthesis_Homo sapiens_hsa002200.49626498
77Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47143510
78Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44347894
79Rheumatoid arthritis_Homo sapiens_hsa053230.43806112
80Sphingolipid metabolism_Homo sapiens_hsa006000.43776060
81Systemic lupus erythematosus_Homo sapiens_hsa053220.43372111
82Taste transduction_Homo sapiens_hsa047420.43138868
83Vitamin B6 metabolism_Homo sapiens_hsa007500.42968511
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.42574107
85Carbon metabolism_Homo sapiens_hsa012000.41294728
86Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.41290075
87Pyruvate metabolism_Homo sapiens_hsa006200.39781229
88Synaptic vesicle cycle_Homo sapiens_hsa047210.39713457
89Intestinal immune network for IgA production_Homo sapiens_hsa046720.39623820
90beta-Alanine metabolism_Homo sapiens_hsa004100.38000837
91Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37589664
92Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.37015065
93mRNA surveillance pathway_Homo sapiens_hsa030150.32539885
94Antigen processing and presentation_Homo sapiens_hsa046120.29221458
95Allograft rejection_Homo sapiens_hsa053300.27601343
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.26654722
97Steroid hormone biosynthesis_Homo sapiens_hsa001400.26242659
98Glycerolipid metabolism_Homo sapiens_hsa005610.25574989
99Vitamin digestion and absorption_Homo sapiens_hsa049770.23553824
100Asthma_Homo sapiens_hsa053100.23025822

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