PNPLA4

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: This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.44909171
2protein complex biogenesis (GO:0070271)4.42327706
3mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.28967832
4water-soluble vitamin biosynthetic process (GO:0042364)4.27894848
5mitochondrial respiratory chain complex assembly (GO:0033108)4.16392723
6respiratory chain complex IV assembly (GO:0008535)4.09167276
7cytochrome complex assembly (GO:0017004)3.95828908
8establishment of protein localization to mitochondrial membrane (GO:0090151)3.90328488
9mitochondrial respiratory chain complex I assembly (GO:0032981)3.85808431
10NADH dehydrogenase complex assembly (GO:0010257)3.85808431
11mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.85808431
12respiratory electron transport chain (GO:0022904)3.81673078
13electron transport chain (GO:0022900)3.77417297
14synapsis (GO:0007129)3.70834492
15proteasome assembly (GO:0043248)3.69895104
16ATP synthesis coupled proton transport (GO:0015986)3.67791151
17energy coupled proton transport, down electrochemical gradient (GO:0015985)3.67791151
18protein neddylation (GO:0045116)3.63658952
19branched-chain amino acid catabolic process (GO:0009083)3.62221216
20regulation of mitochondrial translation (GO:0070129)3.60577439
21chaperone-mediated protein transport (GO:0072321)3.43315550
22piRNA metabolic process (GO:0034587)3.26237579
23RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.16420026
24tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.16420026
25pseudouridine synthesis (GO:0001522)3.14648077
26cellular ketone body metabolic process (GO:0046950)3.12253880
27DNA double-strand break processing (GO:0000729)3.09478999
28cullin deneddylation (GO:0010388)3.04157354
29L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.01824936
30epithelial cilium movement (GO:0003351)3.00659964
31regulation of meiosis I (GO:0060631)2.97658998
32intraciliary transport (GO:0042073)2.95770946
33glutathione derivative metabolic process (GO:1901685)2.94446172
34glutathione derivative biosynthetic process (GO:1901687)2.94446172
35rRNA modification (GO:0000154)2.92284488
36platelet dense granule organization (GO:0060155)2.90474597
37branched-chain amino acid metabolic process (GO:0009081)2.88577369
38regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.85423089
39ketone body metabolic process (GO:1902224)2.84755081
40termination of RNA polymerase III transcription (GO:0006386)2.81785010
41transcription elongation from RNA polymerase III promoter (GO:0006385)2.81785010
42protein-cofactor linkage (GO:0018065)2.81417036
43signal peptide processing (GO:0006465)2.80476739
44L-methionine salvage (GO:0071267)2.77542512
45L-methionine biosynthetic process (GO:0071265)2.77542512
46amino acid salvage (GO:0043102)2.77542512
47male meiosis I (GO:0007141)2.75442327
48peptidyl-histidine modification (GO:0018202)2.75400256
49oxidative phosphorylation (GO:0006119)2.73725760
50resolution of meiotic recombination intermediates (GO:0000712)2.73287459
51regulation of relaxation of muscle (GO:1901077)2.71969063
52centriole replication (GO:0007099)2.71951509
53tryptophan catabolic process (GO:0006569)2.71402077
54indole-containing compound catabolic process (GO:0042436)2.71402077
55indolalkylamine catabolic process (GO:0046218)2.71402077
56exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.71268056
57indolalkylamine metabolic process (GO:0006586)2.71231620
58protein deneddylation (GO:0000338)2.70069724
59ubiquinone biosynthetic process (GO:0006744)2.70032825
60replication fork processing (GO:0031297)2.69318474
61nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.68825579
62regulation of acyl-CoA biosynthetic process (GO:0050812)2.67403981
63kynurenine metabolic process (GO:0070189)2.66546258
64detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.66203884
65axoneme assembly (GO:0035082)2.64816662
66rRNA methylation (GO:0031167)2.63805634
67cilium movement (GO:0003341)2.61374305
68regulation of glucokinase activity (GO:0033131)2.61341192
69regulation of hexokinase activity (GO:1903299)2.61341192
70ATP biosynthetic process (GO:0006754)2.60279650
71aromatic amino acid family catabolic process (GO:0009074)2.60159539
72preassembly of GPI anchor in ER membrane (GO:0016254)2.59544408
73response to pheromone (GO:0019236)2.58420432
74hydrogen ion transmembrane transport (GO:1902600)2.58419138
75DNA methylation involved in gamete generation (GO:0043046)2.56821236
76regulation of skeletal muscle contraction (GO:0014819)2.56537455
77chromatin remodeling at centromere (GO:0031055)2.55019226
78mannosylation (GO:0097502)2.54261668
79response to nitrosative stress (GO:0051409)2.54208688
80intracellular protein transmembrane import (GO:0044743)2.50459480
81proton transport (GO:0015992)2.50276212
82single strand break repair (GO:0000012)2.49164802
83negative regulation of DNA-dependent DNA replication (GO:2000104)2.48043378
84CENP-A containing nucleosome assembly (GO:0034080)2.47785448
85inner mitochondrial membrane organization (GO:0007007)2.47774299
86erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.47511684
87L-phenylalanine catabolic process (GO:0006559)2.47511684
88hydrogen transport (GO:0006818)2.46468716
89cilium or flagellum-dependent cell motility (GO:0001539)2.45319321
90base-excision repair, AP site formation (GO:0006285)2.44595933
91reciprocal meiotic recombination (GO:0007131)2.44463703
92reciprocal DNA recombination (GO:0035825)2.44463703
93organelle disassembly (GO:1903008)2.43965401
94photoreceptor cell maintenance (GO:0045494)2.43546173
95tryptophan metabolic process (GO:0006568)2.43532191
96tRNA processing (GO:0008033)2.42880975
97aspartate family amino acid catabolic process (GO:0009068)2.39474702
98purine nucleoside triphosphate biosynthetic process (GO:0009145)2.39025124
99ubiquinone metabolic process (GO:0006743)2.38144939
100recombinational repair (GO:0000725)2.36710388

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.62871660
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.60499519
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.24972012
4VDR_22108803_ChIP-Seq_LS180_Human2.92310745
5EST1_17652178_ChIP-ChIP_JURKAT_Human2.80862546
6ZNF274_21170338_ChIP-Seq_K562_Hela2.71201308
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.53781091
8IGF1R_20145208_ChIP-Seq_DFB_Human2.52749908
9GBX2_23144817_ChIP-Seq_PC3_Human2.28786740
10FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.25666924
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.24722396
12FLI1_27457419_Chip-Seq_LIVER_Mouse2.18350233
13FUS_26573619_Chip-Seq_HEK293_Human2.14578469
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.10378946
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.10269487
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.04488574
17EWS_26573619_Chip-Seq_HEK293_Human2.02829025
18ELK1_19687146_ChIP-ChIP_HELA_Human2.02761227
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.01614958
20SRF_21415370_ChIP-Seq_HL-1_Mouse1.85047397
21P300_19829295_ChIP-Seq_ESCs_Human1.83370468
22CTBP2_25329375_ChIP-Seq_LNCAP_Human1.79674093
23PCGF2_27294783_Chip-Seq_ESCs_Mouse1.77889083
24VDR_23849224_ChIP-Seq_CD4+_Human1.76795884
25ETS1_20019798_ChIP-Seq_JURKAT_Human1.75983927
26SALL1_21062744_ChIP-ChIP_HESCs_Human1.73996026
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.71831450
28TAF15_26573619_Chip-Seq_HEK293_Human1.69786306
29CREB1_15753290_ChIP-ChIP_HEK293T_Human1.68890615
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68640506
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.67762968
32NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.65463488
33PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63636740
34FOXP3_21729870_ChIP-Seq_TREG_Human1.58875833
35ER_23166858_ChIP-Seq_MCF-7_Human1.52391907
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.50665843
37EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.47632324
38TP53_22573176_ChIP-Seq_HFKS_Human1.47378605
39RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45769711
40PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.45315957
41PADI4_21655091_ChIP-ChIP_MCF-7_Human1.45246789
42BCAT_22108803_ChIP-Seq_LS180_Human1.44961309
43CBP_20019798_ChIP-Seq_JUKART_Human1.43408053
44IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.43408053
45MYC_18940864_ChIP-ChIP_HL60_Human1.43014495
46UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40650049
47AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.39902355
48EGR1_23403033_ChIP-Seq_LIVER_Mouse1.39206982
49EZH2_27294783_Chip-Seq_NPCs_Mouse1.38947811
50CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38344700
51FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.38125379
52SUZ12_27294783_Chip-Seq_NPCs_Mouse1.38003132
53SOX2_19829295_ChIP-Seq_ESCs_Human1.35180479
54NANOG_19829295_ChIP-Seq_ESCs_Human1.35180479
55NFE2_27457419_Chip-Seq_LIVER_Mouse1.30786059
56EZH2_22144423_ChIP-Seq_EOC_Human1.27013934
57FOXA1_25329375_ChIP-Seq_VCAP_Human1.25398563
58FOXA1_27270436_Chip-Seq_PROSTATE_Human1.25398563
59MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.24150614
60KLF5_20875108_ChIP-Seq_MESCs_Mouse1.22005972
61SMAD4_21799915_ChIP-Seq_A2780_Human1.21132863
62AR_20517297_ChIP-Seq_VCAP_Human1.19671040
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.19169283
64TCF4_22108803_ChIP-Seq_LS180_Human1.18044979
65STAT3_23295773_ChIP-Seq_U87_Human1.17247627
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16853625
67HTT_18923047_ChIP-ChIP_STHdh_Human1.16689090
68MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16681270
69HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.16068711
70IRF1_19129219_ChIP-ChIP_H3396_Human1.15608723
71GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.14867309
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.13707983
73TCF4_23295773_ChIP-Seq_U87_Human1.13429186
74SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13196520
75FOXA1_21572438_ChIP-Seq_LNCaP_Human1.12843006
76ELF1_17652178_ChIP-ChIP_JURKAT_Human1.12575648
77* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.11128701
78CRX_20693478_ChIP-Seq_RETINA_Mouse1.10924327
79PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09633027
80AR_25329375_ChIP-Seq_VCAP_Human1.08732696
81NCOR_22424771_ChIP-Seq_293T_Human1.08522113
82EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.07944959
83E2F4_17652178_ChIP-ChIP_JURKAT_Human1.07536290
84NR3C1_21868756_ChIP-Seq_MCF10A_Human1.07410092
85CDX2_22108803_ChIP-Seq_LS180_Human1.07217597
86SMAD3_21741376_ChIP-Seq_EPCs_Human1.05119458
87STAT3_18555785_Chip-Seq_ESCs_Mouse1.04960093
88SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.04149827
89NANOG_18555785_Chip-Seq_ESCs_Mouse1.03603819
90PHF8_20622853_ChIP-Seq_HELA_Human1.02873279
91PCGF2_27294783_Chip-Seq_NPCs_Mouse1.02678433
92EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01329024
93SMAD4_21741376_ChIP-Seq_EPCs_Human1.00891680
94TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00363514
95RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.98562990
96CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.97853399
97AUTS2_25519132_ChIP-Seq_293T-REX_Human0.97261525
98P53_22387025_ChIP-Seq_ESCs_Mouse0.95957609
99E2F1_18555785_Chip-Seq_ESCs_Mouse0.95813595
100PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.95555065

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis3.87586049
2MP0003195_calcinosis2.95944821
3MP0000372_irregular_coat_pigmentation2.85870612
4MP0003646_muscle_fatigue2.68325047
5MP0008877_abnormal_DNA_methylation2.61194272
6MP0003718_maternal_effect2.40108205
7MP0006036_abnormal_mitochondrial_physio2.30071729
8MP0004145_abnormal_muscle_electrophysio2.28143711
9MP0004215_abnormal_myocardial_fiber2.27339209
10MP0008058_abnormal_DNA_repair2.23289376
11MP0003806_abnormal_nucleotide_metabolis2.18232637
12MP0001984_abnormal_olfaction2.10613059
13MP0003186_abnormal_redox_activity2.00702884
14MP0002638_abnormal_pupillary_reflex1.98440450
15MP0005551_abnormal_eye_electrophysiolog1.92460893
16MP0003136_yellow_coat_color1.86819108
17MP0006292_abnormal_olfactory_placode1.78671744
18MP0006072_abnormal_retinal_apoptosis1.70290901
19MP0004147_increased_porphyrin_level1.68714314
20MP0003011_delayed_dark_adaptation1.65063852
21MP0002938_white_spotting1.57319913
22MP0002736_abnormal_nociception_after1.53543247
23MP0004043_abnormal_pH_regulation1.51996328
24MP0008995_early_reproductive_senescence1.51567562
25MP0005253_abnormal_eye_physiology1.51520429
26MP0004084_abnormal_cardiac_muscle1.49934695
27MP0005075_abnormal_melanosome_morpholog1.47962077
28MP0009697_abnormal_copulation1.45415552
29MP0001764_abnormal_homeostasis1.39409408
30MP0002102_abnormal_ear_morphology1.37552787
31MP0001485_abnormal_pinna_reflex1.37149422
32MP0008775_abnormal_heart_ventricle1.36320934
33MP0003786_premature_aging1.36105122
34MP0005332_abnormal_amino_acid1.36064680
35MP0005646_abnormal_pituitary_gland1.35830922
36MP0005670_abnormal_white_adipose1.35130272
37MP0000749_muscle_degeneration1.34437198
38MP0006035_abnormal_mitochondrial_morpho1.32926683
39MP0005084_abnormal_gallbladder_morpholo1.32634112
40MP0009046_muscle_twitch1.31647117
41MP0002876_abnormal_thyroid_physiology1.27864638
42MP0001529_abnormal_vocalization1.27778214
43MP0008875_abnormal_xenobiotic_pharmacok1.27348122
44MP0008872_abnormal_physiological_respon1.26833583
45MP0005408_hypopigmentation1.25655362
46MP0004036_abnormal_muscle_relaxation1.25016337
47MP0005379_endocrine/exocrine_gland_phen1.24673515
48MP0004142_abnormal_muscle_tone1.23962953
49MP0003890_abnormal_embryonic-extraembry1.21543827
50MP0008789_abnormal_olfactory_epithelium1.21359557
51MP0004133_heterotaxia1.21178209
52MP0001968_abnormal_touch/_nociception1.17537482
53MP0002090_abnormal_vision1.14867230
54MP0001929_abnormal_gametogenesis1.13879188
55MP0002163_abnormal_gland_morphology1.12491992
56MP0005266_abnormal_metabolism1.11212671
57MP0004019_abnormal_vitamin_homeostasis1.10523955
58MP0010094_abnormal_chromosome_stability1.09921336
59MP0008057_abnormal_DNA_replication1.09230130
60MP0005636_abnormal_mineral_homeostasis1.09082185
61MP0003137_abnormal_impulse_conducting1.09053738
62MP0005410_abnormal_fertilization1.07066306
63MP0003880_abnormal_central_pattern1.06616885
64MP0005395_other_phenotype1.04952559
65MP0003252_abnormal_bile_duct1.04083495
66MP0002210_abnormal_sex_determination1.02951689
67MP0000631_abnormal_neuroendocrine_gland1.01506668
68MP0002160_abnormal_reproductive_system1.01398663
69MP0005085_abnormal_gallbladder_physiolo1.00287827
70MP0003567_abnormal_fetal_cardiomyocyte1.00187095
71MP0005330_cardiomyopathy0.99906164
72MP0001501_abnormal_sleep_pattern0.99532239
73MP0004085_abnormal_heartbeat0.99239392
74MP0002272_abnormal_nervous_system0.98610420
75MP0000653_abnormal_sex_gland0.98107618
76MP0002138_abnormal_hepatobiliary_system0.94815018
77MP0003698_abnormal_male_reproductive0.94101476
78MP0006276_abnormal_autonomic_nervous0.93761685
79MP0003787_abnormal_imprinting0.92826686
80MP0000569_abnormal_digit_pigmentation0.92377653
81MP0005365_abnormal_bile_salt0.92360431
82MP0009745_abnormal_behavioral_response0.91510227
83MP0002254_reproductive_system_inflammat0.91135042
84MP0003950_abnormal_plasma_membrane0.89955011
85MP0003121_genomic_imprinting0.88532564
86MP0001145_abnormal_male_reproductive0.88133382
87MP0005620_abnormal_muscle_contractility0.87313127
88MP0001324_abnormal_eye_pigmentation0.86353995
89MP0005174_abnormal_tail_pigmentation0.84677123
90MP0001486_abnormal_startle_reflex0.81556559
91MP0010329_abnormal_lipoprotein_level0.78421243
92MP0005645_abnormal_hypothalamus_physiol0.77551191
93MP0002234_abnormal_pharynx_morphology0.76738880
94MP0000427_abnormal_hair_cycle0.76639221
95MP0002139_abnormal_hepatobiliary_system0.76100635
96MP0002653_abnormal_ependyma_morphology0.75445179
97MP0005220_abnormal_exocrine_pancreas0.73938083
98MP0001905_abnormal_dopamine_level0.72644458
99MP0002972_abnormal_cardiac_muscle0.72292359
100MP0004484_altered_response_of0.72269045

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.02708890
2Acute encephalopathy (HP:0006846)3.81802683
3Mitochondrial inheritance (HP:0001427)3.81144567
4Abnormal mitochondria in muscle tissue (HP:0008316)3.76774553
5Increased CSF lactate (HP:0002490)3.73249640
6Hepatic necrosis (HP:0002605)3.71840704
7Progressive macrocephaly (HP:0004481)3.51569258
8Hepatocellular necrosis (HP:0001404)3.45642017
9Pancreatic cysts (HP:0001737)3.19182986
10Cerebral edema (HP:0002181)3.12717924
11Pancreatic fibrosis (HP:0100732)3.08100869
12Lipid accumulation in hepatocytes (HP:0006561)2.98621771
13Nephronophthisis (HP:0000090)2.97565827
14True hermaphroditism (HP:0010459)2.96494497
15Molar tooth sign on MRI (HP:0002419)2.94458722
16Abnormality of midbrain morphology (HP:0002418)2.94458722
17Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.94355204
18Abnormality of alanine metabolism (HP:0010916)2.94355204
19Hyperalaninemia (HP:0003348)2.94355204
20Methylmalonic acidemia (HP:0002912)2.93063952
21Medial flaring of the eyebrow (HP:0010747)2.92806062
22Hyperglycinemia (HP:0002154)2.90881771
23Increased hepatocellular lipid droplets (HP:0006565)2.89173539
24Abnormality of the renal cortex (HP:0011035)2.82333649
25Methylmalonic aciduria (HP:0012120)2.72852436
26Increased serum lactate (HP:0002151)2.68588459
27Hypoglycemic coma (HP:0001325)2.68230314
28Lactic acidosis (HP:0003128)2.61719417
29Renal Fanconi syndrome (HP:0001994)2.61153461
303-Methylglutaconic aciduria (HP:0003535)2.58682161
31Renal cortical cysts (HP:0000803)2.52679490
32Abnormality of the renal medulla (HP:0100957)2.50680180
33Decreased activity of mitochondrial respiratory chain (HP:0008972)2.45228458
34Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.45228458
35Glycosuria (HP:0003076)2.43878017
36Abnormality of urine glucose concentration (HP:0011016)2.43878017
37Increased intramyocellular lipid droplets (HP:0012240)2.37294727
38Respiratory failure (HP:0002878)2.36243544
39Lethargy (HP:0001254)2.34680455
40Dicarboxylic aciduria (HP:0003215)2.33818564
41Abnormality of dicarboxylic acid metabolism (HP:0010995)2.33818564
42Hyperglycinuria (HP:0003108)2.32015041
43Abnormality of serum amino acid levels (HP:0003112)2.30812032
44Abnormality of glycine metabolism (HP:0010895)2.26573650
45Abnormality of serine family amino acid metabolism (HP:0010894)2.26573650
46Type I transferrin isoform profile (HP:0003642)2.25676216
47Generalized aminoaciduria (HP:0002909)2.25535002
48Ketoacidosis (HP:0001993)2.19228173
49Exercise-induced muscle cramps (HP:0003710)2.18723213
50Exercise intolerance (HP:0003546)2.17508791
51Ketosis (HP:0001946)2.16722347
52Gaze-evoked nystagmus (HP:0000640)2.16587444
53Abnormal ciliary motility (HP:0012262)2.14292795
54Increased muscle lipid content (HP:0009058)2.12032402
55Proximal tubulopathy (HP:0000114)2.10589342
56Colon cancer (HP:0003003)2.10274659
57Congenital stationary night blindness (HP:0007642)2.10197488
58Tubulointerstitial nephritis (HP:0001970)2.09967786
59Abnormal respiratory motile cilium physiology (HP:0012261)2.07066709
60Congenital primary aphakia (HP:0007707)2.06725751
61Abnormality of methionine metabolism (HP:0010901)2.04732562
62Abnormality of aspartate family amino acid metabolism (HP:0010899)2.03129110
63CNS demyelination (HP:0007305)2.02953169
64Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.02424326
65Abnormal protein N-linked glycosylation (HP:0012347)2.02424326
66Abnormal protein glycosylation (HP:0012346)2.02424326
67Abnormal glycosylation (HP:0012345)2.02424326
68Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.01478605
69Hyperinsulinemic hypoglycemia (HP:0000825)1.99838814
70Abnormality of aromatic amino acid family metabolism (HP:0004338)1.99179000
71Aplasia/Hypoplasia of the tongue (HP:0010295)1.97475370
72Aplasia/Hypoplasia of the fovea (HP:0008060)1.96571876
73Hypoplasia of the fovea (HP:0007750)1.96571876
74Abnormality of vitamin B metabolism (HP:0004340)1.96213256
75Gait imbalance (HP:0002141)1.95518088
76Abnormality of renal resorption (HP:0011038)1.95485605
77Congenital hepatic fibrosis (HP:0002612)1.94095840
78Nephrogenic diabetes insipidus (HP:0009806)1.91746960
79Optic disc pallor (HP:0000543)1.90346607
80Increased serum pyruvate (HP:0003542)1.88676928
81Congenital, generalized hypertrichosis (HP:0004540)1.88143707
82Nemaline bodies (HP:0003798)1.86180492
83Tubular atrophy (HP:0000092)1.86093887
84Aplasia/Hypoplasia of the tibia (HP:0005772)1.85439077
85Dynein arm defect of respiratory motile cilia (HP:0012255)1.85352418
86Absent/shortened dynein arms (HP:0200106)1.85352418
87Rhinitis (HP:0012384)1.84890138
88Muscle fiber inclusion bodies (HP:0100299)1.84076745
89Cystic liver disease (HP:0006706)1.83042261
90Genital tract atresia (HP:0001827)1.81718325
91Metabolic acidosis (HP:0001942)1.81521945
92Abnormal respiratory motile cilium morphology (HP:0005938)1.80977915
93Abnormal respiratory epithelium morphology (HP:0012253)1.80977915
94Hypothermia (HP:0002045)1.80723457
95Attenuation of retinal blood vessels (HP:0007843)1.79343574
96Abolished electroretinogram (ERG) (HP:0000550)1.79075250
97Abnormality of the labia minora (HP:0012880)1.78795125
98Chronic hepatic failure (HP:0100626)1.78622359
99Respiratory difficulties (HP:0002880)1.76300648
100Male pseudohermaphroditism (HP:0000037)1.76168517

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.16896985
2BCKDK2.79926939
3BMPR1B2.76475054
4PDK22.76443900
5MAP4K22.70757563
6MST42.65915421
7OBSCN2.56763104
8STK162.56045684
9WNK32.13715228
10ZAK2.11956773
11NUAK12.06720374
12TRIM282.04552236
13VRK21.98334411
14ACVR1B1.94079220
15GRK11.88819905
16PINK11.86005942
17EIF2AK31.84818655
18ADRBK21.69382302
19PBK1.68209170
20OXSR11.62924328
21CDK191.57380360
22PHKG11.52259171
23PHKG21.52259171
24TNIK1.45549533
25VRK11.42846832
26INSRR1.42843124
27STK391.31947228
28PLK41.26687266
29MKNK21.23616171
30BUB11.17101774
31TTK1.15902505
32PLK31.13292158
33NME11.10157879
34TIE11.09791342
35WNK41.06845889
36CCNB11.05676464
37CASK1.05157234
38STK31.02161424
39ERBB30.99754205
40STK38L0.98523198
41BRSK20.97833771
42MAP3K40.97190785
43MKNK10.95914955
44CSNK1G10.95436946
45SRPK10.94938823
46PLK20.94090591
47PIK3CG0.90356518
48MAPK130.86309600
49CDC70.84799252
50EIF2AK10.82625589
51PLK10.81576956
52TGFBR10.80553608
53FER0.80264366
54MUSK0.79563549
55NEK10.79158255
56BCR0.76692995
57MAP3K120.76688655
58PRKCE0.76659478
59WEE10.74954205
60PAK30.74398273
61CSNK1G30.74048380
62CSNK1G20.73842795
63TAOK30.70179159
64PTK2B0.68787406
65TAF10.68777456
66PNCK0.67245690
67PRKCG0.64650317
68CSNK1A1L0.59359939
69TLK10.59174602
70NTRK30.58661791
71FGFR20.53461256
72ADRBK10.53130419
73AKT30.52998751
74FLT30.52113535
75CAMK2A0.49698050
76PASK0.49601745
77ATR0.49459012
78STK240.48295581
79LATS10.47443570
80EPHA40.47335223
81TEC0.47278037
82CAMK2D0.46519368
83MYLK0.46317576
84ATM0.46169370
85PRKG10.43530424
86PRKACA0.43022915
87PRKAA20.42917732
88NLK0.41787712
89CSNK2A20.40343367
90CSNK1A10.40136419
91DYRK20.39999118
92PRKACB0.39676383
93PRKCI0.39564856
94CSNK2A10.39252335
95TNK20.35933170
96MAP2K70.35906763
97RPS6KA50.35103548
98EIF2AK20.34687764
99CHEK20.33473211
100DAPK20.30183190

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.33557528
2Parkinsons disease_Homo sapiens_hsa050122.83721032
3Propanoate metabolism_Homo sapiens_hsa006402.60675061
4Proteasome_Homo sapiens_hsa030502.56605679
5Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.51518586
6Protein export_Homo sapiens_hsa030602.35206634
7Homologous recombination_Homo sapiens_hsa034402.22879824
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.16765958
9Huntingtons disease_Homo sapiens_hsa050162.14932242
10RNA polymerase_Homo sapiens_hsa030202.11675083
11Butanoate metabolism_Homo sapiens_hsa006502.06794746
12Ribosome_Homo sapiens_hsa030101.87632640
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.84102447
14Alzheimers disease_Homo sapiens_hsa050101.80810233
15Cardiac muscle contraction_Homo sapiens_hsa042601.70953878
16Tryptophan metabolism_Homo sapiens_hsa003801.70807441
17Fatty acid elongation_Homo sapiens_hsa000621.65749446
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.65272089
19Basal transcription factors_Homo sapiens_hsa030221.64466943
20Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.57725346
21Pyruvate metabolism_Homo sapiens_hsa006201.57446824
22Peroxisome_Homo sapiens_hsa041461.51801337
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.51731019
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.51181140
25Primary bile acid biosynthesis_Homo sapiens_hsa001201.50299146
26Mismatch repair_Homo sapiens_hsa034301.49542245
27Maturity onset diabetes of the young_Homo sapiens_hsa049501.46832157
28Fatty acid degradation_Homo sapiens_hsa000711.44676689
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.44543624
30Fanconi anemia pathway_Homo sapiens_hsa034601.42091791
31Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.38141141
32Nucleotide excision repair_Homo sapiens_hsa034201.35773929
33Glutathione metabolism_Homo sapiens_hsa004801.34801488
34beta-Alanine metabolism_Homo sapiens_hsa004101.29609209
35Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.29256747
36Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.29008655
37RNA degradation_Homo sapiens_hsa030181.28946984
38Phototransduction_Homo sapiens_hsa047441.26979478
39Caffeine metabolism_Homo sapiens_hsa002321.22809336
40Chemical carcinogenesis_Homo sapiens_hsa052041.22174867
41One carbon pool by folate_Homo sapiens_hsa006701.19695217
42Nitrogen metabolism_Homo sapiens_hsa009101.19255262
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.18502995
44Non-homologous end-joining_Homo sapiens_hsa034501.14878896
45Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.12989186
46Base excision repair_Homo sapiens_hsa034101.12775922
47Sulfur metabolism_Homo sapiens_hsa009201.10962555
48Purine metabolism_Homo sapiens_hsa002301.09744383
49Fatty acid metabolism_Homo sapiens_hsa012121.09477064
50Pentose and glucuronate interconversions_Homo sapiens_hsa000401.08527692
51Folate biosynthesis_Homo sapiens_hsa007901.06624662
52Sulfur relay system_Homo sapiens_hsa041221.06126326
53Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.05785832
54Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.05725927
55Selenocompound metabolism_Homo sapiens_hsa004501.03388905
56Linoleic acid metabolism_Homo sapiens_hsa005911.01211504
57Pyrimidine metabolism_Homo sapiens_hsa002401.00629435
58* Retinol metabolism_Homo sapiens_hsa008301.00594185
59Metabolic pathways_Homo sapiens_hsa011000.96662186
60Arginine and proline metabolism_Homo sapiens_hsa003300.94520056
612-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.93669367
62Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.93238014
63DNA replication_Homo sapiens_hsa030300.90778696
64Steroid hormone biosynthesis_Homo sapiens_hsa001400.89592314
65alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.81885702
66Circadian rhythm_Homo sapiens_hsa047100.81040593
67Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.79325890
68Collecting duct acid secretion_Homo sapiens_hsa049660.78437951
69RNA transport_Homo sapiens_hsa030130.77119602
70Carbon metabolism_Homo sapiens_hsa012000.76388953
71Tyrosine metabolism_Homo sapiens_hsa003500.73364908
72Histidine metabolism_Homo sapiens_hsa003400.68800024
73Steroid biosynthesis_Homo sapiens_hsa001000.66094181
74Regulation of autophagy_Homo sapiens_hsa041400.65204366
75Olfactory transduction_Homo sapiens_hsa047400.65133886
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.64587102
77Vitamin digestion and absorption_Homo sapiens_hsa049770.63584817
78Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.63012280
79Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.57342017
80Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.55906903
81Ether lipid metabolism_Homo sapiens_hsa005650.55431171
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.55257941
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.52772768
84Fat digestion and absorption_Homo sapiens_hsa049750.52096046
85ABC transporters_Homo sapiens_hsa020100.51864557
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51530293
87Drug metabolism - other enzymes_Homo sapiens_hsa009830.51505086
88Arachidonic acid metabolism_Homo sapiens_hsa005900.49927499
89Phenylalanine metabolism_Homo sapiens_hsa003600.46877970
90Mineral absorption_Homo sapiens_hsa049780.44582708
91Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44241332
92Oocyte meiosis_Homo sapiens_hsa041140.43013513
93Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.42325246
94Starch and sucrose metabolism_Homo sapiens_hsa005000.40817138
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39583635
96Taste transduction_Homo sapiens_hsa047420.38924543
97Spliceosome_Homo sapiens_hsa030400.37547811
98Arginine biosynthesis_Homo sapiens_hsa002200.35401946
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.35293035
100Glycerolipid metabolism_Homo sapiens_hsa005610.34256281

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