PMS2P1

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
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.98365681
2ATP synthesis coupled proton transport (GO:0015986)6.05700468
3energy coupled proton transport, down electrochemical gradient (GO:0015985)6.05700468
4protein complex biogenesis (GO:0070271)5.01636505
5mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.93656750
6mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.87955382
7mitochondrial respiratory chain complex I assembly (GO:0032981)4.87955382
8NADH dehydrogenase complex assembly (GO:0010257)4.87955382
9establishment of protein localization to mitochondrial membrane (GO:0090151)4.87741185
10respiratory electron transport chain (GO:0022904)4.78546201
11chaperone-mediated protein transport (GO:0072321)4.70323475
12electron transport chain (GO:0022900)4.69601695
13mitochondrial respiratory chain complex assembly (GO:0033108)4.68679899
14proteasome assembly (GO:0043248)4.43968274
15ribosomal small subunit assembly (GO:0000028)4.41311515
16viral transcription (GO:0019083)4.07720970
17translational termination (GO:0006415)4.04312606
18nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.99507934
19rRNA modification (GO:0000154)3.98912798
20negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.97459186
21SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.91542512
22transcription elongation from RNA polymerase III promoter (GO:0006385)3.88229550
23termination of RNA polymerase III transcription (GO:0006386)3.88229550
24cotranslational protein targeting to membrane (GO:0006613)3.87529687
25maturation of SSU-rRNA (GO:0030490)3.85912114
26exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.83218417
27protein targeting to ER (GO:0045047)3.80408492
28ribosomal large subunit biogenesis (GO:0042273)3.76860075
29positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.75510752
30sequestering of actin monomers (GO:0042989)3.69937155
31RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.69254187
32tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.69254187
33regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.66521725
34establishment of protein localization to endoplasmic reticulum (GO:0072599)3.62395648
35inner mitochondrial membrane organization (GO:0007007)3.60843118
36protein localization to endoplasmic reticulum (GO:0070972)3.59999373
37DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.59381867
38DNA ligation (GO:0006266)3.56231631
39signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.54299751
40signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.54299751
41signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.54299751
42regulation of cellular amino acid metabolic process (GO:0006521)3.53354812
43negative regulation of ligase activity (GO:0051352)3.52448552
44negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.52448552
45pseudouridine synthesis (GO:0001522)3.49626570
46signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.49413299
47intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.49413299
48translational elongation (GO:0006414)3.48507596
49anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.48339092
50respiratory chain complex IV assembly (GO:0008535)3.47727245
51* mismatch repair (GO:0006298)3.47009666
52regulation of mitochondrial translation (GO:0070129)3.44207815
53oxidative phosphorylation (GO:0006119)3.42111859
54cytochrome complex assembly (GO:0017004)3.40482047
55DNA deamination (GO:0045006)3.38893809
56protein neddylation (GO:0045116)3.38150879
57signal transduction involved in DNA damage checkpoint (GO:0072422)3.36905430
58signal transduction involved in DNA integrity checkpoint (GO:0072401)3.36905430
59ATP biosynthetic process (GO:0006754)3.36645734
60signal transduction involved in cell cycle checkpoint (GO:0072395)3.35458754
61purine nucleoside triphosphate biosynthetic process (GO:0009145)3.31066030
62purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.28675260
63hydrogen ion transmembrane transport (GO:1902600)3.26878117
64mannosylation (GO:0097502)3.26834048
65cullin deneddylation (GO:0010388)3.25720101
66positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.24376110
67rRNA methylation (GO:0031167)3.21833306
68translation (GO:0006412)3.21749374
69platelet dense granule organization (GO:0060155)3.18052736
70establishment of integrated proviral latency (GO:0075713)3.18043865
71translational initiation (GO:0006413)3.17359844
72spliceosomal snRNP assembly (GO:0000387)3.14071566
73regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.13316298
74regulation of mitotic spindle checkpoint (GO:1903504)3.13316298
75protein deneddylation (GO:0000338)3.12825673
76deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.12382090
77cellular protein complex disassembly (GO:0043624)3.11988003
78centriole replication (GO:0007099)3.11072598
79positive regulation of ligase activity (GO:0051351)3.08811392
80purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.08605168
81viral life cycle (GO:0019058)3.08027204
82peptidyl-histidine modification (GO:0018202)3.07573502
83CENP-A containing nucleosome assembly (GO:0034080)3.05810349
84protein-cofactor linkage (GO:0018065)3.05427816
85protein targeting to mitochondrion (GO:0006626)3.04284494
86chromatin remodeling at centromere (GO:0031055)3.04111138
87GTP biosynthetic process (GO:0006183)3.03435424
88proton transport (GO:0015992)3.02860671
89nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.01481224
90replication fork processing (GO:0031297)2.99054285
91hydrogen transport (GO:0006818)2.98734832
92establishment of protein localization to mitochondrion (GO:0072655)2.93475708
93base-excision repair, AP site formation (GO:0006285)2.93458203
94cellular component biogenesis (GO:0044085)2.88052351
95deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.87855549
96protein localization to mitochondrion (GO:0070585)2.85734588
97ribonucleoside triphosphate biosynthetic process (GO:0009201)2.85358251
98spliceosomal complex assembly (GO:0000245)2.84496683
99preassembly of GPI anchor in ER membrane (GO:0016254)2.84373907
100pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.82654343

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.08767769
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.62401311
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.59487483
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.48137268
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.41855890
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.38739827
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.28542516
8SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.21640856
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.16401260
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.15588550
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.07614342
12CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.96466489
13ELK1_19687146_ChIP-ChIP_HELA_Human2.93207690
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.88937523
15VDR_23849224_ChIP-Seq_CD4+_Human2.87994899
16MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.84884917
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.82760637
18ELF1_17652178_ChIP-ChIP_JURKAT_Human2.59168401
19FOXP3_21729870_ChIP-Seq_TREG_Human2.52899646
20HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.39788908
21SRF_21415370_ChIP-Seq_HL-1_Mouse2.36998751
22ZNF274_21170338_ChIP-Seq_K562_Hela2.16383514
23PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.11477811
24MYC_18358816_ChIP-ChIP_MESCs_Mouse2.04940485
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.04917091
26VDR_22108803_ChIP-Seq_LS180_Human1.94957984
27E2F7_22180533_ChIP-Seq_HELA_Human1.93243497
28PADI4_21655091_ChIP-ChIP_MCF-7_Human1.89893163
29MYC_18940864_ChIP-ChIP_HL60_Human1.86687601
30DCP1A_22483619_ChIP-Seq_HELA_Human1.83747848
31MYC_19030024_ChIP-ChIP_MESCs_Mouse1.80839224
32TTF2_22483619_ChIP-Seq_HELA_Human1.80633786
33EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.77064793
34YY1_21170310_ChIP-Seq_MESCs_Mouse1.76295339
35THAP11_20581084_ChIP-Seq_MESCs_Mouse1.74889849
36HOXB4_20404135_ChIP-ChIP_EML_Mouse1.70132048
37EWS_26573619_Chip-Seq_HEK293_Human1.68489043
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.68346939
39XRN2_22483619_ChIP-Seq_HELA_Human1.65832042
40GABP_19822575_ChIP-Seq_HepG2_Human1.60321430
41PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56999561
42MYC_19079543_ChIP-ChIP_MESCs_Mouse1.56679279
43E2F1_18555785_ChIP-Seq_MESCs_Mouse1.56194002
44FUS_26573619_Chip-Seq_HEK293_Human1.54141010
45IGF1R_20145208_ChIP-Seq_DFB_Human1.51613380
46CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.47463914
47YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41413697
48TP53_22573176_ChIP-Seq_HFKS_Human1.36715815
49ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.34257046
50ELK1_22589737_ChIP-Seq_MCF10A_Human1.30051724
51FLI1_27457419_Chip-Seq_LIVER_Mouse1.29457611
52NELFA_20434984_ChIP-Seq_ESCs_Mouse1.29306380
53POU3F2_20337985_ChIP-ChIP_501MEL_Human1.28387348
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.21554880
55FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.16133639
56CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.15422685
57FOXM1_23109430_ChIP-Seq_U2OS_Human1.15288895
58CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.14505807
59TAF15_26573619_Chip-Seq_HEK293_Human1.12257492
60MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.11247987
61NOTCH1_21737748_ChIP-Seq_TLL_Human1.10804063
62CTBP1_25329375_ChIP-Seq_LNCAP_Human1.10123180
63KDM5A_27292631_Chip-Seq_BREAST_Human1.09607209
64IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.09393385
65POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.08792814
66CIITA_25753668_ChIP-Seq_RAJI_Human1.05462407
67IRF1_19129219_ChIP-ChIP_H3396_Human1.05362130
68HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.04253984
69EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.03723312
70ZFP57_27257070_Chip-Seq_ESCs_Mouse1.03192625
71P300_19829295_ChIP-Seq_ESCs_Human1.00717057
72MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.00679648
73FOXA1_27270436_Chip-Seq_PROSTATE_Human0.98964271
74FOXA1_25329375_ChIP-Seq_VCAP_Human0.98964271
75ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98319637
76MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.97325291
77PCGF2_27294783_Chip-Seq_ESCs_Mouse0.95663911
78AR_20517297_ChIP-Seq_VCAP_Human0.94442634
79E2F1_21310950_ChIP-Seq_MCF-7_Human0.94074763
80SOX2_16153702_ChIP-ChIP_HESCs_Human0.93960955
81POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.93809252
82CTBP2_25329375_ChIP-Seq_LNCAP_Human0.93788535
83BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.93412079
84FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.92932765
85TP63_19390658_ChIP-ChIP_HaCaT_Human0.92690768
86ER_23166858_ChIP-Seq_MCF-7_Human0.92506907
87SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.90114905
88CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88359236
89FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88320398
90TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.87437622
91POU5F1_16153702_ChIP-ChIP_HESCs_Human0.87075043
92CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.85002568
93GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84247036
94SOX2_19829295_ChIP-Seq_ESCs_Human0.83656776
95NANOG_19829295_ChIP-Seq_ESCs_Human0.83656776
96HTT_18923047_ChIP-ChIP_STHdh_Human0.83039420
97ERG_20517297_ChIP-Seq_VCAP_Human0.82751572
98GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.81383377
99ERG_20887958_ChIP-Seq_HPC-7_Mouse0.80679133
100NCOR_22424771_ChIP-Seq_293T_Human0.79558372

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008058_abnormal_DNA_repair3.70484601
2MP0009379_abnormal_foot_pigmentation2.85025241
3MP0006072_abnormal_retinal_apoptosis2.57994059
4MP0005084_abnormal_gallbladder_morpholo2.55209554
5MP0000372_irregular_coat_pigmentation2.54346312
6MP0010094_abnormal_chromosome_stability2.50260964
7MP0002102_abnormal_ear_morphology2.45637653
8MP0008877_abnormal_DNA_methylation2.44871373
9MP0001529_abnormal_vocalization2.43717912
10MP0006292_abnormal_olfactory_placode2.35340792
11MP0003011_delayed_dark_adaptation2.32456883
12MP0003693_abnormal_embryo_hatching2.31142880
13MP0003186_abnormal_redox_activity2.27765485
14MP0006036_abnormal_mitochondrial_physio2.17960655
15MP0003718_maternal_effect2.17166650
16MP0008995_early_reproductive_senescence2.17152820
17MP0003786_premature_aging2.16472618
18MP0009697_abnormal_copulation2.10229685
19MP0003806_abnormal_nucleotide_metabolis2.00978994
20MP0006035_abnormal_mitochondrial_morpho1.98505682
21MP0002938_white_spotting1.97352311
22MP0004957_abnormal_blastocyst_morpholog1.78682045
23MP0005645_abnormal_hypothalamus_physiol1.78662599
24MP0005075_abnormal_melanosome_morpholog1.72325330
25MP0000569_abnormal_digit_pigmentation1.72264383
26MP0004147_increased_porphyrin_level1.71460789
27MP0002736_abnormal_nociception_after1.71178371
28MP0005253_abnormal_eye_physiology1.67657590
29MP0003111_abnormal_nucleus_morphology1.63103582
30MP0003195_calcinosis1.57889158
31MP0005551_abnormal_eye_electrophysiolog1.57485752
32MP0004142_abnormal_muscle_tone1.55881145
33MP0008875_abnormal_xenobiotic_pharmacok1.55234903
34MP0003880_abnormal_central_pattern1.52349856
35MP0001764_abnormal_homeostasis1.51652149
36MP0002234_abnormal_pharynx_morphology1.45374133
37MP0008789_abnormal_olfactory_epithelium1.42899636
38MP0003136_yellow_coat_color1.39643163
39MP0003077_abnormal_cell_cycle1.38210638
40MP0001905_abnormal_dopamine_level1.36838971
41MP0008872_abnormal_physiological_respon1.35414057
42MP0008007_abnormal_cellular_replicative1.33813184
43MP0002837_dystrophic_cardiac_calcinosis1.31874545
44MP0001986_abnormal_taste_sensitivity1.31042565
45MP0001968_abnormal_touch/_nociception1.29761663
46MP0001293_anophthalmia1.27692894
47MP0002638_abnormal_pupillary_reflex1.27332444
48MP0001984_abnormal_olfaction1.26328360
49MP0008932_abnormal_embryonic_tissue1.25340391
50MP0001835_abnormal_antigen_presentation1.13338162
51MP0001929_abnormal_gametogenesis1.10863534
52MP0005646_abnormal_pituitary_gland1.08044930
53MP0005671_abnormal_response_to1.06519561
54MP0002277_abnormal_respiratory_mucosa1.04117244
55MP0004145_abnormal_muscle_electrophysio1.03885557
56MP0003121_genomic_imprinting1.02114944
57MP0006276_abnormal_autonomic_nervous1.00291970
58MP0002095_abnormal_skin_pigmentation1.00048229
59MP0005410_abnormal_fertilization0.97433336
60MP0002210_abnormal_sex_determination0.97313408
61MP0010386_abnormal_urinary_bladder0.95930162
62MP0002751_abnormal_autonomic_nervous0.95691897
63MP0000653_abnormal_sex_gland0.95182129
64MP0008057_abnormal_DNA_replication0.95142535
65MP0000631_abnormal_neuroendocrine_gland0.93040737
66MP0002132_abnormal_respiratory_system0.92988705
67MP0005408_hypopigmentation0.92957675
68MP0005394_taste/olfaction_phenotype0.91709712
69MP0005499_abnormal_olfactory_system0.91709712
70MP0001145_abnormal_male_reproductive0.91190423
71MP0002163_abnormal_gland_morphology0.90994149
72MP0004133_heterotaxia0.86746276
73MP0005379_endocrine/exocrine_gland_phen0.86727653
74MP0002735_abnormal_chemical_nociception0.85057579
75MP0002928_abnormal_bile_duct0.83405001
76MP0002282_abnormal_trachea_morphology0.82423673
77MP0003698_abnormal_male_reproductive0.81176346
78MP0000358_abnormal_cell_content/0.80252783
79MP0001119_abnormal_female_reproductive0.78011851
80MP0005391_vision/eye_phenotype0.75829429
81MP0005085_abnormal_gallbladder_physiolo0.75342662
82MP0005083_abnormal_biliary_tract0.74878828
83MP0005332_abnormal_amino_acid0.73388017
84MP0009046_muscle_twitch0.73325569
85MP0002019_abnormal_tumor_incidence0.72763311
86MP0005389_reproductive_system_phenotype0.72497282
87MP0002822_catalepsy0.72018620
88MP0002653_abnormal_ependyma_morphology0.70182592
89MP0005266_abnormal_metabolism0.69634147
90MP0003787_abnormal_imprinting0.68980295
91MP0000689_abnormal_spleen_morphology0.66862948
92MP0001346_abnormal_lacrimal_gland0.65579313
93MP0005195_abnormal_posterior_eye0.65086080
94MP0005636_abnormal_mineral_homeostasis0.64009343
95MP0002160_abnormal_reproductive_system0.63371288
96MP0000516_abnormal_urinary_system0.62688388
97MP0005367_renal/urinary_system_phenotyp0.62688388
98MP0009745_abnormal_behavioral_response0.62510930
99MP0002272_abnormal_nervous_system0.61940850
100MP0009333_abnormal_splenocyte_physiolog0.61878396

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.32975529
2Mitochondrial inheritance (HP:0001427)5.00936168
3Abnormal mitochondria in muscle tissue (HP:0008316)4.91668610
4Hepatocellular necrosis (HP:0001404)4.77290800
5Acute encephalopathy (HP:0006846)4.63762204
6Progressive macrocephaly (HP:0004481)4.55777529
7Increased hepatocellular lipid droplets (HP:0006565)4.50105608
8Increased CSF lactate (HP:0002490)4.44001896
9Hepatic necrosis (HP:0002605)4.38811436
103-Methylglutaconic aciduria (HP:0003535)4.23998807
11Lipid accumulation in hepatocytes (HP:0006561)4.11499070
12Renal Fanconi syndrome (HP:0001994)3.84832769
13Abnormal number of erythroid precursors (HP:0012131)3.78341135
14Cerebral edema (HP:0002181)3.60962631
15Abnormality of cells of the erythroid lineage (HP:0012130)3.45031722
16Increased intramyocellular lipid droplets (HP:0012240)3.28881246
17Reticulocytopenia (HP:0001896)3.19571303
18Type I transferrin isoform profile (HP:0003642)3.05267665
19Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.03295912
20Increased serum lactate (HP:0002151)3.02296258
21Pancreatic cysts (HP:0001737)2.96818745
22Exertional dyspnea (HP:0002875)2.93163241
23Lactic acidosis (HP:0003128)2.88701727
24Aplastic anemia (HP:0001915)2.83727968
25Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.82938430
26Decreased activity of mitochondrial respiratory chain (HP:0008972)2.82938430
27Congenital, generalized hypertrichosis (HP:0004540)2.74595620
28Optic disc pallor (HP:0000543)2.72328172
29Exercise intolerance (HP:0003546)2.69732124
30Pancreatic fibrosis (HP:0100732)2.69659249
31Microvesicular hepatic steatosis (HP:0001414)2.68760166
32Increased muscle lipid content (HP:0009058)2.68585385
33Respiratory failure (HP:0002878)2.67230993
34Medial flaring of the eyebrow (HP:0010747)2.60223361
35Abnormality of the anterior horn cell (HP:0006802)2.55075616
36Degeneration of anterior horn cells (HP:0002398)2.55075616
37True hermaphroditism (HP:0010459)2.54768526
38Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.51000398
39Abnormal protein glycosylation (HP:0012346)2.49972830
40Abnormal glycosylation (HP:0012345)2.49972830
41Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.49972830
42Abnormal protein N-linked glycosylation (HP:0012347)2.49972830
43Respiratory difficulties (HP:0002880)2.43324443
44Nephronophthisis (HP:0000090)2.41994240
45Methylmalonic acidemia (HP:0002912)2.39790805
46Macrocytic anemia (HP:0001972)2.39439670
47Leukodystrophy (HP:0002415)2.34627818
48Generalized aminoaciduria (HP:0002909)2.32170915
49Abnormality of renal resorption (HP:0011038)2.31816655
50Colon cancer (HP:0003003)2.30245536
51Abnormality of the pons (HP:0007361)2.27865122
52Pancytopenia (HP:0001876)2.26861460
53Lethargy (HP:0001254)2.25963340
54Abnormality of midbrain morphology (HP:0002418)2.24200750
55Molar tooth sign on MRI (HP:0002419)2.24200750
56Hypothermia (HP:0002045)2.21743843
57Renal cortical cysts (HP:0000803)2.21209140
58Hypoplasia of the pons (HP:0012110)2.21176654
59Pallor (HP:0000980)2.13170204
60Oral leukoplakia (HP:0002745)2.10926149
61Gait imbalance (HP:0002141)2.08770709
62Short tibia (HP:0005736)2.07865789
63Methylmalonic aciduria (HP:0012120)2.07825816
64CNS demyelination (HP:0007305)2.07520646
65Congenital primary aphakia (HP:0007707)2.07139302
66Emotional lability (HP:0000712)2.02446048
67Glycosuria (HP:0003076)1.99697212
68Abnormality of urine glucose concentration (HP:0011016)1.99697212
69Abnormality of the renal cortex (HP:0011035)1.97799976
70Abnormality of the renal medulla (HP:0100957)1.94112250
71Reduced antithrombin III activity (HP:0001976)1.91702358
72Nephrogenic diabetes insipidus (HP:0009806)1.91185718
73Absent thumb (HP:0009777)1.89639081
74Abnormality of aspartate family amino acid metabolism (HP:0010899)1.88462969
75Aplasia/Hypoplasia of the tibia (HP:0005772)1.86763320
76Chromsome breakage (HP:0040012)1.86376758
77Abnormality of dicarboxylic acid metabolism (HP:0010995)1.84767482
78Dicarboxylic aciduria (HP:0003215)1.84767482
79Panhypogammaglobulinemia (HP:0003139)1.84346484
80Severe combined immunodeficiency (HP:0004430)1.81995574
81Hyperphosphaturia (HP:0003109)1.81720382
82Meckel diverticulum (HP:0002245)1.79431053
83Congenital stationary night blindness (HP:0007642)1.78857686
84Abnormality of alanine metabolism (HP:0010916)1.78344439
85Hyperalaninemia (HP:0003348)1.78344439
86Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.78344439
87Decreased electroretinogram (ERG) amplitude (HP:0000654)1.76852876
88Abnormality of the ileum (HP:0001549)1.75768517
89Type II lissencephaly (HP:0007260)1.74976301
90Chromosomal breakage induced by crosslinking agents (HP:0003221)1.73899483
91Abolished electroretinogram (ERG) (HP:0000550)1.73221667
92Aplasia/Hypoplasia of the uvula (HP:0010293)1.71726364
93Atrophy/Degeneration involving motor neurons (HP:0007373)1.71715114
94Increased serum pyruvate (HP:0003542)1.70721298
95Type 2 muscle fiber atrophy (HP:0003554)1.70681885
96Duplicated collecting system (HP:0000081)1.67127174
97Neutropenia (HP:0001875)1.66516203
98Cerebellar dysplasia (HP:0007033)1.65865602
99Abnormality of methionine metabolism (HP:0010901)1.65684573
100IgG deficiency (HP:0004315)1.63694892

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.92235542
2BUB12.99520370
3MAP4K22.86537424
4VRK12.85053156
5ZAK2.82066486
6NUAK12.69161995
7NME12.64911687
8STK162.35513805
9SRPK12.26940495
10TAOK32.18091490
11BCKDK2.15590070
12MST42.10997375
13CDC72.02979921
14WNK32.01989187
15PBK1.92749752
16TRIM281.74262488
17EIF2AK31.71148911
18PLK31.65852614
19EIF2AK11.60557241
20TAF11.54433670
21TLK11.53078095
22PLK41.48356009
23CCNB11.47440471
24MAP3K121.44042128
25DYRK21.33152057
26NEK11.29246105
27BCR1.25384370
28TNIK1.21167841
29KDR1.19630887
30ADRBK21.17277036
31BRSK21.15838346
32FRK1.15372087
33TXK1.07546227
34MKNK11.06676327
35WEE11.06149186
36CSNK1G31.04665545
37NME21.04154517
38ATR0.97784354
39MAP3K40.97106835
40TESK20.96062487
41TTK0.95073925
42DYRK30.92370836
43FLT30.92362996
44MUSK0.91837437
45DAPK10.90690080
46BMPR1B0.89389674
47CDK190.88253952
48RPS6KA40.88143534
49PINK10.87188197
50MAPK130.86860661
51GRK10.86086069
52PLK10.82964839
53CSNK1G10.82227397
54IKBKB0.82116039
55INSRR0.78117001
56CDK80.76970804
57CSNK1G20.76606664
58AURKB0.76474331
59BMPR20.75516810
60CLK10.75143890
61PASK0.74700385
62CHEK20.72303697
63TSSK60.71640210
64RPS6KA50.70975504
65EIF2AK20.70550773
66MAPKAPK30.68684210
67CSNK1A1L0.66537087
68MAP2K70.64162330
69ERBB30.63237562
70PDK20.62695355
71MKNK20.61210467
72STK40.61032955
73CSNK2A20.60698694
74CSNK2A10.59124219
75KIT0.57178918
76TEC0.56334838
77NEK20.52282934
78LIMK10.47323327
79AURKA0.46861217
80CDK30.46510758
81GRK60.44484223
82PLK20.44076915
83OXSR10.44050623
84PRKCG0.43571506
85PHKG20.43423863
86PHKG10.43423863
87MARK30.42699892
88PIM20.42495440
89MAP4K10.42317864
90MINK10.42088916
91CSNK1A10.41103345
92ATM0.39296617
93BRSK10.37558270
94LYN0.36462079
95PKN10.36283128
96PIK3CG0.32810438
97PRKCE0.32417304
98ADRBK10.31618773
99MAPKAPK50.30660736
100GRK50.29088970

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.29749368
2Proteasome_Homo sapiens_hsa030504.27930016
3Ribosome_Homo sapiens_hsa030103.83623701
4Parkinsons disease_Homo sapiens_hsa050123.70962950
5RNA polymerase_Homo sapiens_hsa030203.19773286
6Protein export_Homo sapiens_hsa030603.00340532
7Homologous recombination_Homo sapiens_hsa034402.57615505
8Huntingtons disease_Homo sapiens_hsa050162.57072726
9Mismatch repair_Homo sapiens_hsa034302.48175586
10Alzheimers disease_Homo sapiens_hsa050102.35973026
11DNA replication_Homo sapiens_hsa030302.29281317
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.09635020
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.08124888
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.05526256
15Fanconi anemia pathway_Homo sapiens_hsa034601.97247563
16Spliceosome_Homo sapiens_hsa030401.96892636
17Non-homologous end-joining_Homo sapiens_hsa034501.88971326
18Base excision repair_Homo sapiens_hsa034101.87924729
19RNA degradation_Homo sapiens_hsa030181.74699864
20Pyrimidine metabolism_Homo sapiens_hsa002401.73419958
21Nucleotide excision repair_Homo sapiens_hsa034201.61315112
22Cardiac muscle contraction_Homo sapiens_hsa042601.58560093
23Asthma_Homo sapiens_hsa053101.51559152
24Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.44506251
25Purine metabolism_Homo sapiens_hsa002301.39257983
26RNA transport_Homo sapiens_hsa030131.38370425
27One carbon pool by folate_Homo sapiens_hsa006701.33527227
28Basal transcription factors_Homo sapiens_hsa030221.32239035
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.31170744
30Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.30527603
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.27084649
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.19730316
33Propanoate metabolism_Homo sapiens_hsa006401.17423162
34Phototransduction_Homo sapiens_hsa047441.10279277
35Fatty acid elongation_Homo sapiens_hsa000621.09271508
36Intestinal immune network for IgA production_Homo sapiens_hsa046721.09122907
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04785177
38Primary immunodeficiency_Homo sapiens_hsa053401.00444572
39Peroxisome_Homo sapiens_hsa041460.98547195
40Allograft rejection_Homo sapiens_hsa053300.98233533
41Butanoate metabolism_Homo sapiens_hsa006500.95874405
42Type I diabetes mellitus_Homo sapiens_hsa049400.94162211
43Graft-versus-host disease_Homo sapiens_hsa053320.94043333
44Autoimmune thyroid disease_Homo sapiens_hsa053200.92922398
45Selenocompound metabolism_Homo sapiens_hsa004500.84830859
46Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.83246013
47Maturity onset diabetes of the young_Homo sapiens_hsa049500.81313553
48Cysteine and methionine metabolism_Homo sapiens_hsa002700.79839535
49Metabolic pathways_Homo sapiens_hsa011000.79133595
50Nitrogen metabolism_Homo sapiens_hsa009100.77030330
51Glutathione metabolism_Homo sapiens_hsa004800.75045189
52Sulfur metabolism_Homo sapiens_hsa009200.74035219
53Pyruvate metabolism_Homo sapiens_hsa006200.73619937
54Cell cycle_Homo sapiens_hsa041100.73381395
55Collecting duct acid secretion_Homo sapiens_hsa049660.70568670
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.68685714
57Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66143008
58Folate biosynthesis_Homo sapiens_hsa007900.62766771
59Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.61346693
60Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.60695653
61Antigen processing and presentation_Homo sapiens_hsa046120.59827885
62Caffeine metabolism_Homo sapiens_hsa002320.59563133
63Rheumatoid arthritis_Homo sapiens_hsa053230.56858506
64Olfactory transduction_Homo sapiens_hsa047400.55883806
65Regulation of autophagy_Homo sapiens_hsa041400.55695123
66Primary bile acid biosynthesis_Homo sapiens_hsa001200.54884165
67Linoleic acid metabolism_Homo sapiens_hsa005910.54761808
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54650179
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52456195
70Tryptophan metabolism_Homo sapiens_hsa003800.52063089
71Oocyte meiosis_Homo sapiens_hsa041140.49476248
72Chemical carcinogenesis_Homo sapiens_hsa052040.48583300
73Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47833779
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.47251391
75Epstein-Barr virus infection_Homo sapiens_hsa051690.46599629
76Systemic lupus erythematosus_Homo sapiens_hsa053220.46320559
77Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.46145192
78N-Glycan biosynthesis_Homo sapiens_hsa005100.44624552
79Steroid hormone biosynthesis_Homo sapiens_hsa001400.42209123
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.41820290
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40391126
82p53 signaling pathway_Homo sapiens_hsa041150.38729590
83Retinol metabolism_Homo sapiens_hsa008300.36546169
84Sulfur relay system_Homo sapiens_hsa041220.35164575
85Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.34853995
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.33144813
87Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.33051211
88Carbon metabolism_Homo sapiens_hsa012000.32656661
89Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.32566430
90alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.32551220
91Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.31435983
92Taste transduction_Homo sapiens_hsa047420.31229043
932-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.30714064
94Arachidonic acid metabolism_Homo sapiens_hsa005900.30020421
95Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.27182861
96mRNA surveillance pathway_Homo sapiens_hsa030150.26897538
97Biosynthesis of amino acids_Homo sapiens_hsa012300.26344641
98Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.25568261
99beta-Alanine metabolism_Homo sapiens_hsa004100.24880827
100Tyrosine metabolism_Homo sapiens_hsa003500.24448193

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