PKMP5

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
1signal peptide processing (GO:0006465)6.60955635
2proteasome assembly (GO:0043248)5.68071748
3DNA deamination (GO:0045006)5.48740395
4peptidyl-arginine omega-N-methylation (GO:0035247)5.10804312
5negative regulation of thymocyte apoptotic process (GO:0070244)4.71870491
6peptidyl-arginine N-methylation (GO:0035246)4.31961782
7peptidyl-arginine methylation (GO:0018216)4.31961782
8L-fucose catabolic process (GO:0042355)4.31157695
9fucose catabolic process (GO:0019317)4.31157695
10L-fucose metabolic process (GO:0042354)4.31157695
11protein deneddylation (GO:0000338)4.22148435
12histone arginine methylation (GO:0034969)3.97781959
13maturation of 5.8S rRNA (GO:0000460)3.80311542
14ubiquinone biosynthetic process (GO:0006744)3.79475397
15negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.73208834
16cullin deneddylation (GO:0010388)3.71861700
17peptidyl-histidine modification (GO:0018202)3.65707798
18rRNA modification (GO:0000154)3.61631290
19regulation of cellular amino acid metabolic process (GO:0006521)3.61623205
20regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.56971201
21positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.55988052
22tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.55346370
23RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.55346370
24fatty acid elongation (GO:0030497)3.53214063
25ubiquinone metabolic process (GO:0006743)3.47267081
26viral mRNA export from host cell nucleus (GO:0046784)3.41440057
27negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.40350645
28negative regulation of ligase activity (GO:0051352)3.40350645
29negative regulation of growth of symbiont in host (GO:0044130)3.37758114
30negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.37758114
31modulation of growth of symbiont involved in interaction with host (GO:0044144)3.37758114
32regulation of growth of symbiont in host (GO:0044126)3.37758114
33water-soluble vitamin biosynthetic process (GO:0042364)3.37420956
34signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.37051776
35signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.37051776
36signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.37051776
37exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.35046476
38DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.34019859
39response to pheromone (GO:0019236)3.33722998
40signal transduction involved in DNA damage checkpoint (GO:0072422)3.29716052
41signal transduction involved in DNA integrity checkpoint (GO:0072401)3.29716052
42regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.28652503
43intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.25844660
44signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.25844660
45rRNA methylation (GO:0031167)3.24372685
46lipopolysaccharide biosynthetic process (GO:0009103)3.23292710
47nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.23199747
48signal transduction involved in cell cycle checkpoint (GO:0072395)3.22585056
49folic acid-containing compound biosynthetic process (GO:0009396)3.22305469
50somatic hypermutation of immunoglobulin genes (GO:0016446)3.21777779
51somatic diversification of immune receptors via somatic mutation (GO:0002566)3.21777779
52cell wall macromolecule catabolic process (GO:0016998)3.20962464
53pseudouridine synthesis (GO:0001522)3.16369434
54IMP biosynthetic process (GO:0006188)3.14225500
55RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.11215684
56quinone biosynthetic process (GO:1901663)3.11060004
57anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.09572850
58tricarboxylic acid cycle (GO:0006099)3.08626172
59chaperone-mediated protein transport (GO:0072321)3.06569853
60mannosylation (GO:0097502)3.05625383
61protein neddylation (GO:0045116)3.00378706
62regulation of interleukin-6 biosynthetic process (GO:0045408)2.97896341
63branched-chain amino acid catabolic process (GO:0009083)2.95918247
64ribosomal large subunit biogenesis (GO:0042273)2.94619719
65lipopolysaccharide metabolic process (GO:0008653)2.93709978
66positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.93316938
67mitochondrial respiratory chain complex I assembly (GO:0032981)2.92890232
68NADH dehydrogenase complex assembly (GO:0010257)2.92890232
69mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.92890232
70spliceosomal snRNP assembly (GO:0000387)2.88337032
71antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.86461975
72adenosine metabolic process (GO:0046085)2.85588106
73positive regulation of ligase activity (GO:0051351)2.82171876
74regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)2.81474367
75positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)2.81474367
76regulation of isotype switching to IgG isotypes (GO:0048302)2.81184393
77C-terminal protein amino acid modification (GO:0018410)2.80981366
78somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.79981355
79isotype switching (GO:0045190)2.79981355
80somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.79981355
81regulation of thymocyte apoptotic process (GO:0070243)2.78921880
82artery smooth muscle contraction (GO:0014824)2.76738960
83negative regulation of interleukin-12 production (GO:0032695)2.76435035
84C-terminal protein lipidation (GO:0006501)2.74689853
85pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)2.72761488
86UMP metabolic process (GO:0046049)2.72761488
87pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)2.72761488
88UMP biosynthetic process (GO:0006222)2.72761488
89galactose catabolic process (GO:0019388)2.72647374
90protein complex biogenesis (GO:0070271)2.72387778
91metaphase plate congression (GO:0051310)2.72122189
92mitochondrial RNA metabolic process (GO:0000959)2.71095676
93very long-chain fatty acid metabolic process (GO:0000038)2.70312027
94antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.66630568
95regulation of response to tumor cell (GO:0002834)2.64900568
96positive regulation of response to tumor cell (GO:0002836)2.64900568
97positive regulation of immune response to tumor cell (GO:0002839)2.64900568
98regulation of immune response to tumor cell (GO:0002837)2.64900568
99negative regulation of interleukin-17 production (GO:0032700)2.64470357
100positive regulation of prostaglandin secretion (GO:0032308)2.63968312

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.82277486
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.27380025
3ELF1_17652178_ChIP-ChIP_JURKAT_Human3.90429994
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.81951496
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.33905630
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.27539644
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.87079526
8ZNF274_21170338_ChIP-Seq_K562_Hela2.78972948
9SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.71280013
10FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.65123340
11SRF_21415370_ChIP-Seq_HL-1_Mouse2.64234444
12VDR_23849224_ChIP-Seq_CD4+_Human2.59662809
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.59092308
14NOTCH1_21737748_ChIP-Seq_TLL_Human2.41263597
15ETS1_20019798_ChIP-Seq_JURKAT_Human2.39444489
16ELK1_19687146_ChIP-ChIP_HELA_Human2.38068173
17IGF1R_20145208_ChIP-Seq_DFB_Human2.36886356
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.27610319
19FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.20043056
20VDR_22108803_ChIP-Seq_LS180_Human2.17913306
21CREB1_15753290_ChIP-ChIP_HEK293T_Human2.17793926
22IRF1_19129219_ChIP-ChIP_H3396_Human2.13073262
23CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.07998667
24PCGF2_27294783_Chip-Seq_ESCs_Mouse1.97431038
25E2F4_17652178_ChIP-ChIP_JURKAT_Human1.90953377
26FOXP3_21729870_ChIP-Seq_TREG_Human1.90808489
27NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.90567204
28EGR1_23403033_ChIP-Seq_LIVER_Mouse1.83794626
29EWS_26573619_Chip-Seq_HEK293_Human1.82393440
30TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.79681433
31MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.74485348
32YY1_21170310_ChIP-Seq_MESCs_Mouse1.71436917
33MYC_18555785_ChIP-Seq_MESCs_Mouse1.68633292
34MYC_18358816_ChIP-ChIP_MESCs_Mouse1.67689526
35E2F7_22180533_ChIP-Seq_HELA_Human1.65842050
36DCP1A_22483619_ChIP-Seq_HELA_Human1.64958851
37IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.64724711
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.63701468
39PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.62840922
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.59738415
41E2F1_18555785_ChIP-Seq_MESCs_Mouse1.57916558
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.52901753
43FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.46885509
44PADI4_21655091_ChIP-ChIP_MCF-7_Human1.42878121
45CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.38963317
46MYC_19030024_ChIP-ChIP_MESCs_Mouse1.36880513
47GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36342910
48PCGF2_27294783_Chip-Seq_NPCs_Mouse1.33638999
49MYC_18940864_ChIP-ChIP_HL60_Human1.31862212
50YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.31053399
51GABP_19822575_ChIP-Seq_HepG2_Human1.31049080
52POU3F2_20337985_ChIP-ChIP_501MEL_Human1.29314192
53CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.27394395
54PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.24681061
55PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.17926932
56ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.17920727
57CTBP2_25329375_ChIP-Seq_LNCAP_Human1.17876821
58FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.14568015
59BP1_19119308_ChIP-ChIP_Hs578T_Human1.14522043
60EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.12367091
61P300_19829295_ChIP-Seq_ESCs_Human1.09508526
62SUZ12_27294783_Chip-Seq_NPCs_Mouse1.09446063
63NELFA_20434984_ChIP-Seq_ESCs_Mouse1.09308309
64CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.08882049
65ELK1_22589737_ChIP-Seq_MCF10A_Human1.08215305
66FOXA1_27270436_Chip-Seq_PROSTATE_Human1.07755955
67FOXA1_25329375_ChIP-Seq_VCAP_Human1.07755955
68ER_23166858_ChIP-Seq_MCF-7_Human1.07695165
69MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.07206923
70IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.04286267
71SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.04011786
72FOXA1_21572438_ChIP-Seq_LNCaP_Human1.03746575
73NCOR_22424771_ChIP-Seq_293T_Human1.02090821
74AR_20517297_ChIP-Seq_VCAP_Human1.00821676
75FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.00111603
76MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.99981099
77GATA3_26560356_Chip-Seq_TH2_Human0.99926223
78FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99258025
79FOXH1_21741376_ChIP-Seq_EPCs_Human0.98636729
80POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.97879111
81TP53_22573176_ChIP-Seq_HFKS_Human0.95634916
82GATA1_22025678_ChIP-Seq_K562_Human0.94207510
83NFE2_27457419_Chip-Seq_LIVER_Mouse0.93192091
84NANOG_19829295_ChIP-Seq_ESCs_Human0.93071102
85SOX2_19829295_ChIP-Seq_ESCs_Human0.93071102
86KDM5A_27292631_Chip-Seq_BREAST_Human0.92586492
87XRN2_22483619_ChIP-Seq_HELA_Human0.91295242
88TAF15_26573619_Chip-Seq_HEK293_Human0.91039687
89THAP11_20581084_ChIP-Seq_MESCs_Mouse0.90996163
90SALL4_22934838_ChIP-ChIP_CD34+_Human0.89998516
91CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.89145198
92CTBP1_25329375_ChIP-Seq_LNCAP_Human0.89106367
93KLF5_20875108_ChIP-Seq_MESCs_Mouse0.88186117
94ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.87784409
95PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.86343544
96LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.82181358
97AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82015369
98CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.80385209
99ZFP57_27257070_Chip-Seq_ESCs_Mouse0.80126016
100STAT4_19710469_ChIP-ChIP_TH1__Mouse0.80046182

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006054_spinal_hemorrhage4.13881206
2MP0004147_increased_porphyrin_level3.65367469
3MP0002163_abnormal_gland_morphology3.19164091
4MP0001835_abnormal_antigen_presentation2.93593003
5MP0001986_abnormal_taste_sensitivity2.72550002
6MP0004782_abnormal_surfactant_physiolog2.67719283
7MP0000685_abnormal_immune_system2.59823484
8MP0003183_abnormal_peptide_metabolism2.47073785
9MP0002653_abnormal_ependyma_morphology2.35075969
10MP0003806_abnormal_nucleotide_metabolis2.35059486
11MP0005671_abnormal_response_to2.33015733
12MP0009785_altered_susceptibility_to2.32414308
13MP0009764_decreased_sensitivity_to2.27119184
14MP0008875_abnormal_xenobiotic_pharmacok2.25293178
15MP0002148_abnormal_hypersensitivity_rea2.11762516
16MP0008872_abnormal_physiological_respon2.09182786
17MP0001968_abnormal_touch/_nociception2.08008166
18MP0005379_endocrine/exocrine_gland_phen2.06961048
19MP0000372_irregular_coat_pigmentation2.05317403
20MP0002736_abnormal_nociception_after1.96435836
21MP0008775_abnormal_heart_ventricle1.94402916
22MP0009697_abnormal_copulation1.94349600
23MP0003724_increased_susceptibility_to1.93485402
24MP0001873_stomach_inflammation1.88342725
25MP0000569_abnormal_digit_pigmentation1.87748434
26MP0008058_abnormal_DNA_repair1.85261275
27MP0001984_abnormal_olfaction1.78451006
28MP0001905_abnormal_dopamine_level1.76060774
29MP0010094_abnormal_chromosome_stability1.73557894
30MP0008260_abnormal_autophagy1.59601760
31MP0002933_joint_inflammation1.59584149
32MP0005387_immune_system_phenotype1.58435049
33MP0001790_abnormal_immune_system1.58435049
34MP0003718_maternal_effect1.57345532
35MP0003186_abnormal_redox_activity1.53499712
36MP0006035_abnormal_mitochondrial_morpho1.49931728
37MP0003693_abnormal_embryo_hatching1.49368556
38MP0003195_calcinosis1.45731518
39MP0005167_abnormal_blood-brain_barrier1.38907165
40MP0008007_abnormal_cellular_replicative1.38141538
41MP0005551_abnormal_eye_electrophysiolog1.36588728
42MP0002006_tumorigenesis1.35423298
43MP0003075_altered_response_to1.34643262
44MP0002166_altered_tumor_susceptibility1.33674564
45MP0000358_abnormal_cell_content/1.32932291
46MP0005000_abnormal_immune_tolerance1.32511142
47MP0001800_abnormal_humoral_immune1.29808788
48MP0005165_increased_susceptibility_to1.24769956
49MP0004957_abnormal_blastocyst_morpholog1.21479569
50MP0009333_abnormal_splenocyte_physiolog1.19229723
51MP0003880_abnormal_central_pattern1.18727698
52MP0005174_abnormal_tail_pigmentation1.18075624
53MP0002452_abnormal_antigen_presenting1.13434328
54MP0006072_abnormal_retinal_apoptosis1.11468766
55MP0002723_abnormal_immune_serum1.11457811
56MP0004272_abnormal_basement_membrane1.10013855
57MP0004885_abnormal_endolymph1.09771750
58MP0005166_decreased_susceptibility_to1.06244924
59MP0004084_abnormal_cardiac_muscle1.05840761
60MP0004215_abnormal_myocardial_fiber1.04650453
61MP0005595_abnormal_vascular_smooth1.04638569
62MP0002396_abnormal_hematopoietic_system1.03798841
63MP0004145_abnormal_muscle_electrophysio1.02702962
64MP0001533_abnormal_skeleton_physiology1.02191413
65MP0003136_yellow_coat_color1.01999961
66MP0006036_abnormal_mitochondrial_physio1.00606875
67MP0002277_abnormal_respiratory_mucosa1.00094834
68MP0001915_intracranial_hemorrhage0.98549190
69MP0001663_abnormal_digestive_system0.96832858
70MP0005360_urolithiasis0.96713790
71MP0002405_respiratory_system_inflammati0.96657744
72MP0005084_abnormal_gallbladder_morpholo0.91915937
73MP0001845_abnormal_inflammatory_respons0.91501001
74MP0001529_abnormal_vocalization0.90916295
75MP0004142_abnormal_muscle_tone0.90054488
76MP0002420_abnormal_adaptive_immunity0.89519204
77MP0005253_abnormal_eye_physiology0.88655544
78MP0003950_abnormal_plasma_membrane0.87131069
79MP0010368_abnormal_lymphatic_system0.86756336
80MP0001819_abnormal_immune_cell0.85301528
81MP0010155_abnormal_intestine_physiology0.83411426
82MP0002419_abnormal_innate_immunity0.80926148
83MP0008469_abnormal_protein_level0.77632736
84MP0003786_premature_aging0.75956544
85MP0002272_abnormal_nervous_system0.75841458
86MP0005623_abnormal_meninges_morphology0.75433961
87MP0001485_abnormal_pinna_reflex0.73972506
88MP0005645_abnormal_hypothalamus_physiol0.69977637
89MP0000689_abnormal_spleen_morphology0.68933437
90MP0000647_abnormal_sebaceous_gland0.68808246
91MP0005319_abnormal_enzyme/_coenzyme0.68778934
92MP0002735_abnormal_chemical_nociception0.68396717
93MP0001881_abnormal_mammary_gland0.68198811
94MP0001958_emphysema0.67689945
95MP0000613_abnormal_salivary_gland0.67202653
96MP0002332_abnormal_exercise_endurance0.66526260
97MP0002722_abnormal_immune_system0.66192436
98MP0005083_abnormal_biliary_tract0.65574686
99MP0004043_abnormal_pH_regulation0.65375123
100MP0002095_abnormal_skin_pigmentation0.64735201

Predicted human phenotypes

RankGene SetZ-score
1Congenital, generalized hypertrichosis (HP:0004540)4.92162580
2Carpal bone hypoplasia (HP:0001498)3.95115366
3Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.73528751
4Abnormality of alanine metabolism (HP:0010916)3.73528751
5Hyperalaninemia (HP:0003348)3.73528751
6Large for gestational age (HP:0001520)3.51358136
7Increased serum pyruvate (HP:0003542)3.37799050
8Acute necrotizing encephalopathy (HP:0006965)3.14970557
9Tinnitus (HP:0000360)3.09271019
10Abnormality of glycolysis (HP:0004366)3.08495307
11Neuroendocrine neoplasm (HP:0100634)2.91137232
12Mitochondrial inheritance (HP:0001427)2.90507398
13Abnormal mitochondria in muscle tissue (HP:0008316)2.78930994
14Acute encephalopathy (HP:0006846)2.77024925
15Abnormality of liposaccharide metabolism (HP:0010968)2.74200100
16Abnormality of glycosphingolipid metabolism (HP:0004343)2.74200100
17Abnormality of glycolipid metabolism (HP:0010969)2.74200100
18Increased CSF lactate (HP:0002490)2.71188362
19Abnormal protein glycosylation (HP:0012346)2.62810359
20Abnormal glycosylation (HP:0012345)2.62810359
21Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.62810359
22Abnormal protein N-linked glycosylation (HP:0012347)2.62810359
23Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.58051293
24Optic neuritis (HP:0100653)2.57378663
25Retrobulbar optic neuritis (HP:0100654)2.57378663
26Type I transferrin isoform profile (HP:0003642)2.55743716
27Progressive macrocephaly (HP:0004481)2.50659379
28Pheochromocytoma (HP:0002666)2.49734063
29Palpebral edema (HP:0100540)2.49587687
30Opisthotonus (HP:0002179)2.47744038
31Hepatocellular necrosis (HP:0001404)2.46188432
32Hepatic necrosis (HP:0002605)2.45891169
33Hypoproteinemia (HP:0003075)2.43846642
34Methylmalonic acidemia (HP:0002912)2.42799338
35Increased serum lactate (HP:0002151)2.38294354
36Medial flaring of the eyebrow (HP:0010747)2.38202267
37Progressive microcephaly (HP:0000253)2.37392760
38Neoplasm of head and neck (HP:0012288)2.36428042
39Esophageal neoplasm (HP:0100751)2.36428042
40Attenuation of retinal blood vessels (HP:0007843)2.32226852
41J-shaped sella turcica (HP:0002680)2.30093555
42Delayed CNS myelination (HP:0002188)2.28887705
43Increased hepatocellular lipid droplets (HP:0006565)2.27472791
44Renal cortical cysts (HP:0000803)2.26864580
45Congenital primary aphakia (HP:0007707)2.26213268
46Optic disc pallor (HP:0000543)2.25020222
47Abnormality of B cell number (HP:0010975)2.23019847
48Neoplasm of the peripheral nervous system (HP:0100007)2.21679948
49Lactic acidosis (HP:0003128)2.21653081
50Methylmalonic aciduria (HP:0012120)2.19855600
51IgG deficiency (HP:0004315)2.15933874
52Abolished electroretinogram (ERG) (HP:0000550)2.14632672
53Neoplasm of the adrenal gland (HP:0100631)2.13640769
54Type II lissencephaly (HP:0007260)2.11687174
55Abnormality of the pons (HP:0007361)2.11088336
56Gait imbalance (HP:0002141)2.10884013
57Lipid accumulation in hepatocytes (HP:0006561)2.10179961
58Orchitis (HP:0100796)2.09803662
59Abnormality of serum amino acid levels (HP:0003112)2.08214536
60Conjunctival hamartoma (HP:0100780)2.07439087
61Cerebral edema (HP:0002181)2.05728029
62Hypoplasia of the pons (HP:0012110)2.05397625
63Concave nail (HP:0001598)2.03480656
64Pancytopenia (HP:0001876)2.03099844
65Cheilitis (HP:0100825)2.00930875
66Hyperglycinuria (HP:0003108)2.00207283
67Tongue fasciculations (HP:0001308)2.00164721
68Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.95452455
69Palpitations (HP:0001962)1.94943165
70Hemiplegia (HP:0002301)1.93001291
71Aplasia/hypoplasia of the uterus (HP:0008684)1.92037855
72Retinal dysplasia (HP:0007973)1.91610469
73Abnormality of the renal cortex (HP:0011035)1.91322363
74Lethargy (HP:0001254)1.90331484
75Exertional dyspnea (HP:0002875)1.90200204
76Parakeratosis (HP:0001036)1.89864770
77Pancreatic cysts (HP:0001737)1.88930712
78Increased IgM level (HP:0003496)1.88454233
79Fair hair (HP:0002286)1.86465558
80Reduced antithrombin III activity (HP:0001976)1.84334505
81Testicular atrophy (HP:0000029)1.83510224
82Abnormality of the vocal cords (HP:0008777)1.83080939
83Keratoconjunctivitis (HP:0001096)1.82087450
84IgA deficiency (HP:0002720)1.81918431
85Renal Fanconi syndrome (HP:0001994)1.80414644
86Abnormality of serine family amino acid metabolism (HP:0010894)1.80321125
87Abnormality of glycine metabolism (HP:0010895)1.80321125
88Adrenal hypoplasia (HP:0000835)1.78932940
89Glucose intolerance (HP:0000833)1.78026134
90Hyperglycinemia (HP:0002154)1.77107170
91Myositis (HP:0100614)1.76940295
92Furrowed tongue (HP:0000221)1.76838485
93Abnormality of methionine metabolism (HP:0010901)1.76204518
94B lymphocytopenia (HP:0010976)1.73380347
95Recurrent bronchitis (HP:0002837)1.72998130
96Rough bone trabeculation (HP:0100670)1.72962033
97Dry hair (HP:0011359)1.72379574
98Keratoconjunctivitis sicca (HP:0001097)1.70456841
99Increased intramyocellular lipid droplets (HP:0012240)1.70029276
100Recurrent cutaneous fungal infections (HP:0011370)1.68710805

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR5.24290578
2ZAK3.94440545
3EIF2AK33.47123952
4EIF2AK13.10932710
5VRK22.99447456
6TSSK62.99158107
7IRAK42.57961999
8TIE12.48732669
9BMPR1B2.45814192
10SRPK12.18403353
11NEK92.00212268
12CAMKK21.95728954
13NUAK11.95605092
14ADRBK21.87288687
15TAF11.86175127
16PLK31.84659811
17BCKDK1.69991045
18VRK11.69307565
19FRK1.68187672
20NEK11.68065080
21TXK1.60490361
22BUB11.60451917
23LIMK11.57680977
24BLK1.51423584
25EIF2AK21.51392391
26MAP4K21.46033576
27STK161.43806088
28MST41.37708538
29GRK11.31544637
30PBK1.26919728
31CCNB11.26222197
32TLK11.16473039
33TNIK1.09347146
34PLK21.02582330
35FES1.01662237
36NME10.95319910
37TNK20.94372538
38KIT0.89861944
39RPS6KA50.88432429
40FLT30.85466613
41PHKG20.83905934
42PHKG10.83905934
43ADRBK10.83634048
44EPHA20.79672659
45ACVR1B0.78324231
46MKNK10.77565656
47CDC70.76300092
48MYLK0.75644946
49MAP3K140.75391809
50TRIM280.74547781
51IRAK10.73778011
52FER0.73269043
53TTK0.73172018
54OXSR10.71126399
55TGFBR10.70742990
56PTK2B0.69052103
57STK100.68539685
58ERBB40.64693740
59CSNK1G30.63158053
60CSF1R0.62512239
61MATK0.60116198
62PLK10.59849236
63SYK0.58425744
64PDK20.57850459
65CSNK1A1L0.56596125
66BCR0.55530105
67TEC0.54077371
68AURKB0.52773300
69BMPR20.52487128
70STK390.50179969
71CSNK1G20.49563486
72JAK30.49259675
73SCYL20.49164499
74PINK10.48343931
75CSNK1G10.48159874
76PAK40.45447004
77MAPKAPK50.43968993
78CAMK2A0.40719168
79CDK80.40675041
80DAPK10.40279223
81GRK50.39576384
82CDK90.38074417
83PRKCQ0.37856319
84EPHA30.37493554
85PIK3CG0.36650377
86LYN0.35445801
87STK38L0.35009232
88CSNK2A10.34836365
89EGFR0.33417362
90IKBKB0.33178643
91DAPK30.33041042
92MAP2K70.32302790
93CAMKK10.30690603
94IGF1R0.29801818
95ATR0.29425429
96STK40.28224997
97IKBKE0.27817734
98RPS6KA40.27771414
99MAP3K120.27477561
100MAP2K60.27281207

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.93675101
2Protein export_Homo sapiens_hsa030602.84533860
3Homologous recombination_Homo sapiens_hsa034402.56679335
4Non-homologous end-joining_Homo sapiens_hsa034502.53421758
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.50749883
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.38873803
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.18514359
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.10609836
9Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.05699530
10Fatty acid biosynthesis_Homo sapiens_hsa000611.94354943
11DNA replication_Homo sapiens_hsa030301.87737407
12Fatty acid elongation_Homo sapiens_hsa000621.86920405
13Mismatch repair_Homo sapiens_hsa034301.85790153
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.84398075
15Oxidative phosphorylation_Homo sapiens_hsa001901.78876183
16One carbon pool by folate_Homo sapiens_hsa006701.76287692
17Parkinsons disease_Homo sapiens_hsa050121.75321902
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.74495577
19Nitrogen metabolism_Homo sapiens_hsa009101.71724534
20Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.62731744
21Base excision repair_Homo sapiens_hsa034101.53328582
22Regulation of autophagy_Homo sapiens_hsa041401.52496359
23Nucleotide excision repair_Homo sapiens_hsa034201.47126539
24RNA degradation_Homo sapiens_hsa030181.45050916
25Selenocompound metabolism_Homo sapiens_hsa004501.43078140
26N-Glycan biosynthesis_Homo sapiens_hsa005101.38567966
27Fatty acid metabolism_Homo sapiens_hsa012121.38183168
28Sulfur metabolism_Homo sapiens_hsa009201.37282411
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.33068162
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.32077710
31Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.30520391
32Propanoate metabolism_Homo sapiens_hsa006401.23645987
33Pyrimidine metabolism_Homo sapiens_hsa002401.18150632
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.17667922
35Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.17299877
36Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.15343836
37Basal transcription factors_Homo sapiens_hsa030221.15185549
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.14591377
39Peroxisome_Homo sapiens_hsa041461.12369938
40Fanconi anemia pathway_Homo sapiens_hsa034601.10741692
41Systemic lupus erythematosus_Homo sapiens_hsa053221.10584394
42Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.09285082
43Allograft rejection_Homo sapiens_hsa053301.08201354
44Intestinal immune network for IgA production_Homo sapiens_hsa046721.04201998
45RNA polymerase_Homo sapiens_hsa030201.04098740
46Rheumatoid arthritis_Homo sapiens_hsa053231.03678771
47Butanoate metabolism_Homo sapiens_hsa006501.02090714
48Pyruvate metabolism_Homo sapiens_hsa006201.01589390
49Spliceosome_Homo sapiens_hsa030401.01550904
50Steroid biosynthesis_Homo sapiens_hsa001000.99624761
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.99102512
52Cysteine and methionine metabolism_Homo sapiens_hsa002700.97226997
53Carbon metabolism_Homo sapiens_hsa012000.96401946
54RNA transport_Homo sapiens_hsa030130.96400957
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.94106068
56Purine metabolism_Homo sapiens_hsa002300.92448113
57Huntingtons disease_Homo sapiens_hsa050160.89716709
58Primary bile acid biosynthesis_Homo sapiens_hsa001200.86592007
59Graft-versus-host disease_Homo sapiens_hsa053320.82157250
60Antigen processing and presentation_Homo sapiens_hsa046120.82037189
61alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.81527850
62Alzheimers disease_Homo sapiens_hsa050100.80892121
63Biosynthesis of amino acids_Homo sapiens_hsa012300.79866661
64Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.78201326
65Fatty acid degradation_Homo sapiens_hsa000710.75353774
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.75289048
67Primary immunodeficiency_Homo sapiens_hsa053400.73320957
68Tryptophan metabolism_Homo sapiens_hsa003800.73111023
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.71273071
70Malaria_Homo sapiens_hsa051440.67671989
71Metabolic pathways_Homo sapiens_hsa011000.65236368
72Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.63338707
73Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.62674851
74Phototransduction_Homo sapiens_hsa047440.62252002
75Legionellosis_Homo sapiens_hsa051340.62149145
76Folate biosynthesis_Homo sapiens_hsa007900.61469212
77Drug metabolism - other enzymes_Homo sapiens_hsa009830.60433425
78Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.59749163
79Asthma_Homo sapiens_hsa053100.59328051
80Autoimmune thyroid disease_Homo sapiens_hsa053200.58772249
81Sulfur relay system_Homo sapiens_hsa041220.56492761
82ABC transporters_Homo sapiens_hsa020100.56413691
83Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53638362
84Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.52411116
85Linoleic acid metabolism_Homo sapiens_hsa005910.50666131
86Type I diabetes mellitus_Homo sapiens_hsa049400.49865703
87Ribosome_Homo sapiens_hsa030100.49084361
88Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47345070
89Pentose phosphate pathway_Homo sapiens_hsa000300.44723395
90African trypanosomiasis_Homo sapiens_hsa051430.43587220
91Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.43098969
92Fat digestion and absorption_Homo sapiens_hsa049750.40043782
93Glutathione metabolism_Homo sapiens_hsa004800.37093979
94Olfactory transduction_Homo sapiens_hsa047400.36854864
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.35962653
96Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.33599563
97Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.33396578
98PPAR signaling pathway_Homo sapiens_hsa033200.32790842
99Alcoholism_Homo sapiens_hsa050340.32499046
100Pentose and glucuronate interconversions_Homo sapiens_hsa000400.32465773

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