TMEM56-RWDD3

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 locus represents naturally occurring read-through transcription between the neighboring TMEM56 (transmembrane protein 56) and RWDD3 (RWD domain containing 3) genes on chromosome 1. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus due to frameshifts versus the downstream gene coding sequence. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of glucocorticoid secretion (GO:2000849)6.05529960
2positive regulation of protein sumoylation (GO:0033235)6.01252038
3positive regulation of prostaglandin secretion (GO:0032308)5.27442597
4negative regulation of metanephros development (GO:0072217)5.06231471
5proteasome assembly (GO:0043248)4.96487442
6regulation of protein sumoylation (GO:0033233)4.78032625
7regulation of corticosteroid hormone secretion (GO:2000846)4.74812854
8regulation of prostaglandin secretion (GO:0032306)4.62442797
9mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.26887993
10metallo-sulfur cluster assembly (GO:0031163)4.03563950
11iron-sulfur cluster assembly (GO:0016226)4.03563950
12positive regulation of macrophage derived foam cell differentiation (GO:0010744)3.86497235
13anterograde synaptic vesicle transport (GO:0048490)3.85626648
14negative regulation of sterol transport (GO:0032372)3.81994617
15negative regulation of cholesterol transport (GO:0032375)3.81994617
16regulation of steroid hormone secretion (GO:2000831)3.72044897
17branched-chain amino acid catabolic process (GO:0009083)3.71034959
18protein neddylation (GO:0045116)3.66902125
19deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.51665060
20regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.49835910
21short-chain fatty acid metabolic process (GO:0046459)3.49351301
22protein-chromophore linkage (GO:0018298)3.45319025
23dopamine transport (GO:0015872)3.41259140
24energy coupled proton transport, down electrochemical gradient (GO:0015985)3.39799925
25ATP synthesis coupled proton transport (GO:0015986)3.39799925
26ubiquinone biosynthetic process (GO:0006744)3.31586373
27positive regulation of icosanoid secretion (GO:0032305)3.30315064
28regulation of appetite (GO:0032098)3.30156617
29regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)3.26639515
30positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)3.26639515
31DNA deamination (GO:0045006)3.22739125
32maturation of 5.8S rRNA (GO:0000460)3.21271856
33deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.20812478
34respiratory chain complex IV assembly (GO:0008535)3.19623094
35purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.17491340
36oxygen transport (GO:0015671)3.15905316
37regulation of cellular amino acid metabolic process (GO:0006521)3.11143850
38protoporphyrinogen IX metabolic process (GO:0046501)3.10556808
39positive regulation of fatty acid transport (GO:2000193)3.09915918
40response to pheromone (GO:0019236)3.06860894
41erythrocyte maturation (GO:0043249)3.06448870
42branched-chain amino acid metabolic process (GO:0009081)3.05821205
43cellular ketone body metabolic process (GO:0046950)3.03601906
44ubiquinone metabolic process (GO:0006743)2.99352005
45cysteine metabolic process (GO:0006534)2.98609722
46DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.95273754
47ketone body metabolic process (GO:1902224)2.93877198
48positive regulation of male gonad development (GO:2000020)2.93523608
49quinone biosynthetic process (GO:1901663)2.89689449
50negative regulation of neurological system process (GO:0031645)2.88776407
51intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.88743594
52signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.88743594
53signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.88434790
54signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.88434790
55signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.88434790
56heme metabolic process (GO:0042168)2.86474008
57regulation of macrophage activation (GO:0043030)2.85290075
58positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.81355914
59regulation of sulfur metabolic process (GO:0042762)2.78839977
60S-adenosylmethionine metabolic process (GO:0046500)2.77463503
61heme biosynthetic process (GO:0006783)2.75565647
62signal transduction involved in DNA integrity checkpoint (GO:0072401)2.75419383
63signal transduction involved in DNA damage checkpoint (GO:0072422)2.75419383
64porphyrin-containing compound metabolic process (GO:0006778)2.74997135
65hemoglobin metabolic process (GO:0020027)2.74942765
66signal transduction involved in cell cycle checkpoint (GO:0072395)2.74540153
67porphyrin-containing compound biosynthetic process (GO:0006779)2.73082176
68negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.70785112
692-deoxyribonucleotide biosynthetic process (GO:0009265)2.70703977
70deoxyribose phosphate biosynthetic process (GO:0046385)2.70703977
71telomere maintenance via semi-conservative replication (GO:0032201)2.68740472
72purine-containing compound salvage (GO:0043101)2.68579553
73protein deneddylation (GO:0000338)2.66631938
74negative regulation of execution phase of apoptosis (GO:1900118)2.66177084
75nucleotide-excision repair, DNA gap filling (GO:0006297)2.65088042
76phosphatidylinositol acyl-chain remodeling (GO:0036149)2.64456284
77water-soluble vitamin biosynthetic process (GO:0042364)2.62163012
78regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.59264323
79pseudouridine synthesis (GO:0001522)2.58177893
80plasma membrane fusion (GO:0045026)2.58070362
81regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.57952298
82regulation of oxidative phosphorylation (GO:0002082)2.57702729
83melanosome organization (GO:0032438)2.57472711
84Golgi to endosome transport (GO:0006895)2.56118034
85pigmentation (GO:0043473)2.55607747
86positive regulation of receptor biosynthetic process (GO:0010870)2.55267634
87regulation of acyl-CoA biosynthetic process (GO:0050812)2.54404552
88cullin deneddylation (GO:0010388)2.53595112
89regulation of male gonad development (GO:2000018)2.52513990
90lipopolysaccharide metabolic process (GO:0008653)2.52147921
91peptidyl-histidine modification (GO:0018202)2.51782983
92serine family amino acid catabolic process (GO:0009071)2.50425287
93tetrapyrrole biosynthetic process (GO:0033014)2.50149373
94anterograde axon cargo transport (GO:0008089)2.48245320
95regulation of icosanoid secretion (GO:0032303)2.48130561
96oxidative phosphorylation (GO:0006119)2.47226216
97positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.46640133
98tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.46503681
99RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.46503681
100telomere maintenance via recombination (GO:0000722)2.46437760

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.90281311
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.52997839
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.38943832
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.29853720
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.14056627
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.09678031
7IGF1R_20145208_ChIP-Seq_DFB_Human3.00845065
8E2F7_22180533_ChIP-Seq_HELA_Human2.78006466
9VDR_23849224_ChIP-Seq_CD4+_Human2.75912056
10ELK1_19687146_ChIP-ChIP_HELA_Human2.74632935
11EST1_17652178_ChIP-ChIP_JURKAT_Human2.68336473
12SRF_21415370_ChIP-Seq_HL-1_Mouse2.67192335
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.64858774
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.48101037
15HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.42937485
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.38152075
17PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.25425833
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.21564953
19MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.09085392
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.04767162
21E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.98973613
22MYC_18555785_ChIP-Seq_MESCs_Mouse1.96361119
23PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.92149689
24POU3F2_20337985_ChIP-ChIP_501MEL_Human1.91744527
25EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.90469915
26HTT_18923047_ChIP-ChIP_STHdh_Human1.88114339
27FOXP3_21729870_ChIP-Seq_TREG_Human1.79840318
28E2F4_17652178_ChIP-ChIP_JURKAT_Human1.71478131
29PADI4_21655091_ChIP-ChIP_MCF-7_Human1.68334369
30FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.67815995
31SALL1_21062744_ChIP-ChIP_HESCs_Human1.66886130
32CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.65990126
33NOTCH1_21737748_ChIP-Seq_TLL_Human1.61366048
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.61177176
35EGR1_23403033_ChIP-Seq_LIVER_Mouse1.60621937
36MYC_18358816_ChIP-ChIP_MESCs_Mouse1.55561144
37EZH2_27294783_Chip-Seq_NPCs_Mouse1.51117639
38TAF15_26573619_Chip-Seq_HEK293_Human1.49515003
39FLI1_27457419_Chip-Seq_LIVER_Mouse1.48669520
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.48607917
41TP53_22573176_ChIP-Seq_HFKS_Human1.46974806
42VDR_22108803_ChIP-Seq_LS180_Human1.46440304
43FUS_26573619_Chip-Seq_HEK293_Human1.44997815
44EWS_26573619_Chip-Seq_HEK293_Human1.44897908
45IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.44748961
46DCP1A_22483619_ChIP-Seq_HELA_Human1.44506120
47EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.37580613
48HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.35008753
49ELK1_22589737_ChIP-Seq_MCF10A_Human1.33283697
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.28569803
51CRX_20693478_ChIP-Seq_RETINA_Mouse1.27240910
52CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.26351083
53SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.24475450
54NELFA_20434984_ChIP-Seq_ESCs_Mouse1.24136817
55MYC_18940864_ChIP-ChIP_HL60_Human1.24059178
56E2F1_18555785_ChIP-Seq_MESCs_Mouse1.23337292
57GABP_19822575_ChIP-Seq_HepG2_Human1.21308215
58SOX2_19829295_ChIP-Seq_ESCs_Human1.20497257
59NANOG_19829295_ChIP-Seq_ESCs_Human1.20497257
60STAT3_18555785_Chip-Seq_ESCs_Mouse1.20048250
61PCGF2_27294783_Chip-Seq_ESCs_Mouse1.18459128
62YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.17656935
63CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.16533405
64SUZ12_27294783_Chip-Seq_NPCs_Mouse1.16196333
65FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.15387139
66MYC_19030024_ChIP-ChIP_MESCs_Mouse1.14467770
67ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13057216
68AUTS2_25519132_ChIP-Seq_293T-REX_Human1.12839837
69GATA3_26560356_Chip-Seq_TH2_Human1.12264638
70ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.12055594
71NFE2_27457419_Chip-Seq_LIVER_Mouse1.10436964
72PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.10396815
73RBPJ_21746931_ChIP-Seq_IB4_Human1.09289135
74ZNF274_21170338_ChIP-Seq_K562_Hela1.06348809
75SALL4_22934838_ChIP-ChIP_CD34+_Human1.06265478
76SMAD1_18555785_Chip-Seq_ESCs_Mouse1.05400627
77FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.05329952
78CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.04762446
79SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.04483389
80ETV1_20927104_ChIP-Seq_GIST48_Human1.04400154
81PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.02963084
82FOXA1_25329375_ChIP-Seq_VCAP_Human1.00652101
83FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00652101
84POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.99595236
85AR_20517297_ChIP-Seq_VCAP_Human0.99521744
86P53_22387025_ChIP-Seq_ESCs_Mouse0.98381822
87CBP_20019798_ChIP-Seq_JUKART_Human0.97811230
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97811230
89FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.97347077
90ER_23166858_ChIP-Seq_MCF-7_Human0.93495908
91P300_19829295_ChIP-Seq_ESCs_Human0.93143975
92XRN2_22483619_ChIP-Seq_HELA_Human0.93080072
93IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.92231996
94CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.91670227
95NCOR_22424771_ChIP-Seq_293T_Human0.91582804
96OCT4_18555785_Chip-Seq_ESCs_Mouse0.91193408
97FOXH1_21741376_ChIP-Seq_EPCs_Human0.90966721
98PHF8_20622853_ChIP-Seq_HELA_Human0.90359636
99GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.89739922
100RUNX1_27457419_Chip-Seq_LIVER_Mouse0.89235881

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002102_abnormal_ear_morphology5.42014911
2MP0003195_calcinosis3.54215749
3MP0009333_abnormal_splenocyte_physiolog3.52450787
4MP0006054_spinal_hemorrhage3.48280348
5MP0008995_early_reproductive_senescence3.20189224
6MP0002909_abnormal_adrenal_gland2.66173215
7MP0003656_abnormal_erythrocyte_physiolo2.55260302
8MP0003186_abnormal_redox_activity2.54750647
9MP0004147_increased_porphyrin_level2.52870940
10MP0009697_abnormal_copulation2.49380713
11MP0003786_premature_aging2.47007252
12MP0001764_abnormal_homeostasis2.30521113
13MP0003806_abnormal_nucleotide_metabolis2.29215370
14MP0005085_abnormal_gallbladder_physiolo2.21402229
15MP0000639_abnormal_adrenal_gland2.16220708
16MP0005365_abnormal_bile_salt1.97124857
17MP0008058_abnormal_DNA_repair1.94579428
18MP0001873_stomach_inflammation1.94238407
19MP0010094_abnormal_chromosome_stability1.90590360
20MP0001968_abnormal_touch/_nociception1.87068361
21MP0005083_abnormal_biliary_tract1.86155156
22MP0003252_abnormal_bile_duct1.83200669
23MP0002139_abnormal_hepatobiliary_system1.80499762
24MP0004484_altered_response_of1.75398894
25MP0000372_irregular_coat_pigmentation1.75156161
26MP0003279_aneurysm1.72011953
27MP0000537_abnormal_urethra_morphology1.68689575
28MP0003787_abnormal_imprinting1.66167772
29MP0006036_abnormal_mitochondrial_physio1.64185940
30MP0002166_altered_tumor_susceptibility1.63286748
31MP0000465_gastrointestinal_hemorrhage1.63164064
32MP0005671_abnormal_response_to1.62324630
33MP0000371_diluted_coat_color1.54607639
34MP0006072_abnormal_retinal_apoptosis1.53892635
35MP0001905_abnormal_dopamine_level1.47376626
36MP0001661_extended_life_span1.45378609
37MP0010307_abnormal_tumor_latency1.44166208
38MP0008875_abnormal_xenobiotic_pharmacok1.43164491
39MP0000343_altered_response_to1.41063342
40MP0004957_abnormal_blastocyst_morpholog1.40582345
41MP0003221_abnormal_cardiomyocyte_apopto1.39000716
42MP0002638_abnormal_pupillary_reflex1.38700054
43MP0003646_muscle_fatigue1.36098605
44MP0005253_abnormal_eye_physiology1.32837955
45MP0005171_absent_coat_pigmentation1.30355601
46MP0005187_abnormal_penis_morphology1.30130036
47MP0003828_pulmonary_edema1.30106976
48MP0005636_abnormal_mineral_homeostasis1.29047213
49MP0005248_abnormal_Harderian_gland1.25853931
50MP0002822_catalepsy1.21542117
51MP0010386_abnormal_urinary_bladder1.21456495
52MP0009384_cardiac_valve_regurgitation1.21160951
53MP0003567_abnormal_fetal_cardiomyocyte1.11879444
54MP0003121_genomic_imprinting1.09519382
55MP0001835_abnormal_antigen_presentation1.07208982
56MP0005075_abnormal_melanosome_morpholog1.05813114
57MP0001529_abnormal_vocalization1.03164787
58MP0005389_reproductive_system_phenotype1.02985491
59MP0006035_abnormal_mitochondrial_morpho0.98234227
60MP0008873_increased_physiological_sensi0.94974907
61MP0001119_abnormal_female_reproductive0.94806974
62MP0005408_hypopigmentation0.94787142
63MP0002160_abnormal_reproductive_system0.92923338
64MP0002019_abnormal_tumor_incidence0.92294108
65MP0005646_abnormal_pituitary_gland0.89339861
66MP0010329_abnormal_lipoprotein_level0.88896447
67MP0009785_altered_susceptibility_to0.86383561
68MP0001666_abnormal_nutrient_absorption0.85759659
69MP0000749_muscle_degeneration0.84209165
70MP0005084_abnormal_gallbladder_morpholo0.83664272
71MP0002090_abnormal_vision0.82048128
72MP0008775_abnormal_heart_ventricle0.80599978
73MP0002127_abnormal_cardiovascular_syste0.78322398
74MP0005410_abnormal_fertilization0.78287457
75MP0000653_abnormal_sex_gland0.77381154
76MP0005332_abnormal_amino_acid0.76747288
77MP0004215_abnormal_myocardial_fiber0.76378727
78MP0002006_tumorigenesis0.76267068
79MP0005647_abnormal_sex_gland0.75581321
80MP0002972_abnormal_cardiac_muscle0.74078344
81MP0005385_cardiovascular_system_phenoty0.72802170
82MP0001544_abnormal_cardiovascular_syste0.72802170
83MP0000689_abnormal_spleen_morphology0.71233030
84MP0001919_abnormal_reproductive_system0.70513521
85MP0001929_abnormal_gametogenesis0.70352769
86MP0005367_renal/urinary_system_phenotyp0.69921953
87MP0000516_abnormal_urinary_system0.69921953
88MP0008877_abnormal_DNA_methylation0.69112801
89MP0005551_abnormal_eye_electrophysiolog0.68769081
90MP0002938_white_spotting0.68758112
91MP0003111_abnormal_nucleus_morphology0.66489778
92MP0006292_abnormal_olfactory_placode0.66460514
93MP0008057_abnormal_DNA_replication0.66244481
94MP0003950_abnormal_plasma_membrane0.65838329
95MP0002163_abnormal_gland_morphology0.65690028
96MP0008469_abnormal_protein_level0.65676076
97MP0003077_abnormal_cell_cycle0.63646198
98MP0002234_abnormal_pharynx_morphology0.63403180
99MP0005376_homeostasis/metabolism_phenot0.62187511
100MP0003123_paternal_imprinting0.61523404

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic seizures (HP:0002173)6.90786395
2Symptomatic seizures (HP:0011145)4.78905526
3Hyperglycinemia (HP:0002154)4.09089050
4Decreased activity of mitochondrial respiratory chain (HP:0008972)3.66686430
5Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.66686430
63-Methylglutaconic aciduria (HP:0003535)3.61659604
7Abnormality of the heme biosynthetic pathway (HP:0010472)3.52144663
8Hypothermia (HP:0002045)3.36976988
9Reduced antithrombin III activity (HP:0001976)3.32918801
10Dry hair (HP:0011359)3.30859361
11Hypoplastic pelvis (HP:0008839)3.27424139
12Renal cortical cysts (HP:0000803)3.24969544
13Acute encephalopathy (HP:0006846)3.19581048
14Gonadal dysgenesis (HP:0000133)3.19306509
15Generalized aminoaciduria (HP:0002909)3.16512761
16Lipid accumulation in hepatocytes (HP:0006561)2.91271973
17Increased hepatocellular lipid droplets (HP:0006565)2.91089065
18Increased intramyocellular lipid droplets (HP:0012240)2.86529527
19Abnormal protein glycosylation (HP:0012346)2.86311398
20Abnormal glycosylation (HP:0012345)2.86311398
21Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.86311398
22Abnormal protein N-linked glycosylation (HP:0012347)2.86311398
23Acute necrotizing encephalopathy (HP:0006965)2.83054089
24Reduced subcutaneous adipose tissue (HP:0003758)2.75842294
25Diaphragmatic weakness (HP:0009113)2.71503788
26Abnormal mitochondria in muscle tissue (HP:0008316)2.66535035
27Renal Fanconi syndrome (HP:0001994)2.66284589
28Increased CSF lactate (HP:0002490)2.64162886
29Hyperglycinuria (HP:0003108)2.60148389
30Progressive macrocephaly (HP:0004481)2.55021488
31Hypoplastic heart (HP:0001961)2.49761900
32Mitochondrial inheritance (HP:0001427)2.49724799
33Degeneration of anterior horn cells (HP:0002398)2.47511519
34Abnormality of the anterior horn cell (HP:0006802)2.47511519
35Spontaneous abortion (HP:0005268)2.47123251
36Hypochromic microcytic anemia (HP:0004840)2.45100426
37Increased muscle lipid content (HP:0009058)2.44269148
38Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.41178184
39Abnormality of serine family amino acid metabolism (HP:0010894)2.37446430
40Abnormality of glycine metabolism (HP:0010895)2.37446430
41Menstrual irregularities (HP:0000858)2.35224407
42Abnormality of serum amino acid levels (HP:0003112)2.34906156
43Increased IgM level (HP:0003496)2.33232904
44Cerebral edema (HP:0002181)2.32650161
45Hepatocellular necrosis (HP:0001404)2.30889463
46Hypoplastic left heart (HP:0004383)2.30444196
47Amniotic constriction ring (HP:0009775)2.29284957
48Abnormality of placental membranes (HP:0011409)2.29284957
49True hermaphroditism (HP:0010459)2.29258637
50Hepatic necrosis (HP:0002605)2.28399965
51Pancreatic cysts (HP:0001737)2.27202783
52Increased serum lactate (HP:0002151)2.25023042
53Glycosuria (HP:0003076)2.24623533
54Abnormality of urine glucose concentration (HP:0011016)2.24623533
55Abnormality of the renal cortex (HP:0011035)2.23829615
56Lactic acidosis (HP:0003128)2.19891048
57IgG deficiency (HP:0004315)2.18067968
58Testicular neoplasm (HP:0010788)2.11385842
59Exercise-induced muscle cramps (HP:0003710)2.11351696
60Pancreatic islet-cell hyperplasia (HP:0004510)2.08708286
61Neoplasm of the adrenal cortex (HP:0100641)2.07363282
62Microcytic anemia (HP:0001935)2.07236441
63Tubulointerstitial nephritis (HP:0001970)2.06633836
64Male pseudohermaphroditism (HP:0000037)2.04851315
65Lethargy (HP:0001254)2.03729559
66Increased serum pyruvate (HP:0003542)2.02526876
67Exertional dyspnea (HP:0002875)2.02289027
68Exercise intolerance (HP:0003546)2.01362640
69Chronic diarrhea (HP:0002028)2.00280399
70Enlarged kidneys (HP:0000105)1.97842104
71Poikilocytosis (HP:0004447)1.95480177
72Stenosis of the external auditory canal (HP:0000402)1.95314941
73Respiratory difficulties (HP:0002880)1.95027042
74Type I transferrin isoform profile (HP:0003642)1.94601556
75Pancreatic fibrosis (HP:0100732)1.92608549
76Palpitations (HP:0001962)1.92553286
77Posterior subcapsular cataract (HP:0007787)1.92224424
78Hyperammonemia (HP:0001987)1.90524370
79Abnormality of aspartate family amino acid metabolism (HP:0010899)1.89193089
80Male infertility (HP:0003251)1.88979050
81Abnormality of methionine metabolism (HP:0010901)1.88271225
82Tongue fasciculations (HP:0001308)1.88038027
83Neoplasm of the adrenal gland (HP:0100631)1.87636815
84Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.83911603
85Gonadotropin excess (HP:0000837)1.83761375
86Abnormality of the fovea (HP:0000493)1.81436926
87Hypoplastic iliac wings (HP:0002866)1.77813475
88Hyperbilirubinemia (HP:0002904)1.77508487
89Respiratory failure (HP:0002878)1.75962789
90Thyroiditis (HP:0100646)1.75355281
91Abnormal auditory evoked potentials (HP:0006958)1.74851440
92Decreased lacrimation (HP:0000633)1.74289962
93Entropion (HP:0000621)1.73681775
94Dyschromatopsia (HP:0007641)1.73553083
95Female pseudohermaphroditism (HP:0010458)1.71710253
96Metabolic acidosis (HP:0001942)1.68920874
97Abnormality of fatty-acid metabolism (HP:0004359)1.68899373
98Hepatocellular carcinoma (HP:0001402)1.68306934
99Severe combined immunodeficiency (HP:0004430)1.67612563
100Hypobetalipoproteinemia (HP:0003563)1.67165829

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK23.86080181
2EIF2AK13.36283939
3EIF2AK32.63162290
4CLK12.63129205
5TLK12.31841638
6MAP3K122.25653863
7STK392.18058803
8VRK22.17584183
9SRPK12.13813673
10INSRR2.09914032
11GRK12.07614760
12FRK2.05614883
13PLK21.99248066
14PINK11.88012757
15KDR1.80229744
16NEK11.79166604
17BCKDK1.76701603
18TIE11.75721539
19WNK41.72559484
20TXK1.72297160
21SCYL21.67044243
22PDK21.65541428
23NUAK11.61784696
24PLK31.60451904
25CSNK1G31.55048439
26ADRBK21.54025268
27OBSCN1.52885240
28TEC1.52642578
29ZAK1.47826992
30TRIM281.45658761
31CCNB11.42955681
32CSNK1A1L1.41297924
33BCR1.40396902
34CSNK1G11.30914869
35CAMKK21.29106047
36ABL21.26795681
37MST41.26181712
38CSNK1G21.24805446
39STK161.24496016
40ERBB21.23344660
41GRK51.21394944
42ERBB31.19781488
43FGFR21.18001330
44MYLK1.17107633
45GRK61.14384368
46PLK41.12690721
47PBK0.99901029
48TESK10.95059127
49CDK80.94742444
50ADRBK10.91558097
51BMPR20.90968245
52PLK10.90292049
53PAK30.88011945
54PRKD20.84277389
55CDC70.82533250
56LRRK20.78980700
57VRK10.75590793
58NTRK30.74951205
59STK40.72341656
60FER0.69726143
61BRSK20.68807869
62MAP3K70.68708281
63TSSK60.68623519
64OXSR10.68100123
65ATR0.68059553
66FGR0.67931602
67DAPK10.64707967
68PIK3CG0.64043655
69NME10.63296869
70RPS6KA40.60836161
71LIMK10.60301693
72AURKB0.58842913
73RPS6KA50.57722058
74BMX0.57114026
75CDK70.57060066
76NEK90.55428707
77MAP4K20.55215495
78LATS10.53773001
79MAP3K100.52511338
80AKT30.51628362
81PTK2B0.51012625
82CSNK2A10.50064494
83PRKAA20.49691701
84DYRK1A0.48425810
85LYN0.48236398
86CSNK2A20.44804438
87EIF2AK20.41051010
88TNK20.40916022
89BUB10.40160912
90WNK30.38543402
91PAK40.38441116
92EPHA40.37735491
93EGFR0.37636652
94ATM0.37022113
95BMPR1B0.36359459
96GRK70.35322469
97PRKD30.31704640
98PIM10.31425365
99DYRK30.29547349
100MAPK130.27519257

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.89511825
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.57363274
3Propanoate metabolism_Homo sapiens_hsa006402.90026950
4Mismatch repair_Homo sapiens_hsa034302.54563526
5Butanoate metabolism_Homo sapiens_hsa006502.41338552
6DNA replication_Homo sapiens_hsa030302.37655001
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.20730895
8Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.12882476
9Fatty acid elongation_Homo sapiens_hsa000622.08672939
10Nucleotide excision repair_Homo sapiens_hsa034202.06673585
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.03947254
12Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.97300769
13Primary bile acid biosynthesis_Homo sapiens_hsa001201.92755191
14Sulfur relay system_Homo sapiens_hsa041221.90560714
15Homologous recombination_Homo sapiens_hsa034401.90340786
16Oxidative phosphorylation_Homo sapiens_hsa001901.88553624
17Protein export_Homo sapiens_hsa030601.84668963
18Steroid biosynthesis_Homo sapiens_hsa001001.75728646
19Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.74985934
20Linoleic acid metabolism_Homo sapiens_hsa005911.74364862
21Ribosome_Homo sapiens_hsa030101.72841035
22Parkinsons disease_Homo sapiens_hsa050121.69632118
23Nitrogen metabolism_Homo sapiens_hsa009101.66562495
24Primary immunodeficiency_Homo sapiens_hsa053401.63461489
25Regulation of autophagy_Homo sapiens_hsa041401.61284333
26Peroxisome_Homo sapiens_hsa041461.59332774
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.54706647
28Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.52229604
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.48546106
30Pentose and glucuronate interconversions_Homo sapiens_hsa000401.46220270
31Fanconi anemia pathway_Homo sapiens_hsa034601.42987139
32Fat digestion and absorption_Homo sapiens_hsa049751.41154258
33alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.40464727
34Steroid hormone biosynthesis_Homo sapiens_hsa001401.40101310
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.40077019
36Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.39186833
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.35516470
38Pyruvate metabolism_Homo sapiens_hsa006201.33266952
39Base excision repair_Homo sapiens_hsa034101.33038873
40One carbon pool by folate_Homo sapiens_hsa006701.30492308
41Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.20505629
42Chemical carcinogenesis_Homo sapiens_hsa052041.17821395
43Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.17530351
44Caffeine metabolism_Homo sapiens_hsa002321.17008358
45Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.16365083
46Retinol metabolism_Homo sapiens_hsa008301.13526424
47Drug metabolism - other enzymes_Homo sapiens_hsa009831.12466949
48Carbon metabolism_Homo sapiens_hsa012001.11054245
49Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.09877567
50Arachidonic acid metabolism_Homo sapiens_hsa005901.07253309
51Glutathione metabolism_Homo sapiens_hsa004801.03771862
52Non-homologous end-joining_Homo sapiens_hsa034500.97537007
53N-Glycan biosynthesis_Homo sapiens_hsa005100.94133371
54Alzheimers disease_Homo sapiens_hsa050100.90994498
55Huntingtons disease_Homo sapiens_hsa050160.89865451
56SNARE interactions in vesicular transport_Homo sapiens_hsa041300.87542973
57Fatty acid metabolism_Homo sapiens_hsa012120.87489704
58Metabolic pathways_Homo sapiens_hsa011000.86238462
59Pyrimidine metabolism_Homo sapiens_hsa002400.86038313
60Malaria_Homo sapiens_hsa051440.84823885
61Basal transcription factors_Homo sapiens_hsa030220.82828197
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82238995
63Purine metabolism_Homo sapiens_hsa002300.75623884
64RNA transport_Homo sapiens_hsa030130.73787391
65Ether lipid metabolism_Homo sapiens_hsa005650.71722288
66Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.71071098
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.68628281
68Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.67931766
69Folate biosynthesis_Homo sapiens_hsa007900.64585892
70African trypanosomiasis_Homo sapiens_hsa051430.64164789
71Phototransduction_Homo sapiens_hsa047440.64105296
72Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.64077990
73Complement and coagulation cascades_Homo sapiens_hsa046100.64060542
74beta-Alanine metabolism_Homo sapiens_hsa004100.64038038
75RNA polymerase_Homo sapiens_hsa030200.62907008
76RNA degradation_Homo sapiens_hsa030180.62667828
77Cell cycle_Homo sapiens_hsa041100.61327201
78Vitamin B6 metabolism_Homo sapiens_hsa007500.60210863
79Tyrosine metabolism_Homo sapiens_hsa003500.60108812
80Spliceosome_Homo sapiens_hsa030400.56519960
81Starch and sucrose metabolism_Homo sapiens_hsa005000.56366935
82Fatty acid degradation_Homo sapiens_hsa000710.56306253
83Selenocompound metabolism_Homo sapiens_hsa004500.55269336
84Phenylalanine metabolism_Homo sapiens_hsa003600.46268728
85Circadian rhythm_Homo sapiens_hsa047100.45754008
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44330390
87Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44013467
88Arginine and proline metabolism_Homo sapiens_hsa003300.41706272
89ABC transporters_Homo sapiens_hsa020100.39987095
90Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.38584824
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38432732
92Sulfur metabolism_Homo sapiens_hsa009200.35433327
93Adipocytokine signaling pathway_Homo sapiens_hsa049200.29889977
94Hematopoietic cell lineage_Homo sapiens_hsa046400.29279243
95Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.29005985
96Biosynthesis of amino acids_Homo sapiens_hsa012300.28451717
97Maturity onset diabetes of the young_Homo sapiens_hsa049500.25743024
98Vitamin digestion and absorption_Homo sapiens_hsa049770.24655278
99Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.24295041
100Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.20782219

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