ABHD14A-ACY1

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 abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is distinct due to the use of an alternate start codon relative to the upstream gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1GDP-mannose metabolic process (GO:0019673)4.61394281
2iron-sulfur cluster assembly (GO:0016226)4.59365945
3metallo-sulfur cluster assembly (GO:0031163)4.59365945
4base-excision repair, AP site formation (GO:0006285)4.54061775
5tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)4.53332328
6RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)4.53332328
7mannosylation (GO:0097502)4.27296179
8proteasome assembly (GO:0043248)4.11142689
9pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.09095692
10DNA deamination (GO:0045006)3.89345015
11deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.80796380
12preassembly of GPI anchor in ER membrane (GO:0016254)3.69922642
13mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.62500655
14mitochondrial respiratory chain complex I assembly (GO:0032981)3.62500655
15NADH dehydrogenase complex assembly (GO:0010257)3.62500655
16maturation of 5.8S rRNA (GO:0000460)3.62379061
17pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.56502972
18branched-chain amino acid catabolic process (GO:0009083)3.48178158
19protein complex biogenesis (GO:0070271)3.44661645
20erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.44592905
21L-phenylalanine metabolic process (GO:0006558)3.44592905
22mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.39040229
23deoxyribonucleotide catabolic process (GO:0009264)3.36397826
24mitochondrial respiratory chain complex assembly (GO:0033108)3.36277448
25cullin deneddylation (GO:0010388)3.36144595
26proline biosynthetic process (GO:0006561)3.35101601
27dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.29086836
28C-terminal protein lipidation (GO:0006501)3.28109723
29proline metabolic process (GO:0006560)3.27190442
30termination of RNA polymerase III transcription (GO:0006386)3.23841682
31transcription elongation from RNA polymerase III promoter (GO:0006385)3.23841682
32regulation of cellular amino acid metabolic process (GO:0006521)3.22254456
33pseudouridine synthesis (GO:0001522)3.22023748
34aldehyde catabolic process (GO:0046185)3.20609453
35regulation of mitochondrial translation (GO:0070129)3.19969528
36protein deneddylation (GO:0000338)3.19566720
37erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.18123702
38L-phenylalanine catabolic process (GO:0006559)3.18123702
39ATP synthesis coupled proton transport (GO:0015986)3.14629685
40energy coupled proton transport, down electrochemical gradient (GO:0015985)3.14629685
41deoxyribose phosphate catabolic process (GO:0046386)3.14140575
42pyrimidine nucleotide catabolic process (GO:0006244)3.13597425
43mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.10988651
44telomere maintenance via semi-conservative replication (GO:0032201)3.07369318
45L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.05827678
46GPI anchor biosynthetic process (GO:0006506)3.03941739
47rRNA modification (GO:0000154)3.03432160
48electron transport chain (GO:0022900)2.96202440
49respiratory electron transport chain (GO:0022904)2.96073893
50purine deoxyribonucleotide catabolic process (GO:0009155)2.94220132
51protein maturation by protein folding (GO:0022417)2.93672333
522-deoxyribonucleotide metabolic process (GO:0009394)2.92882943
53tRNA processing (GO:0008033)2.92226404
54glyoxylate metabolic process (GO:0046487)2.90396934
55amino acid salvage (GO:0043102)2.89715936
56L-methionine salvage (GO:0071267)2.89715936
57L-methionine biosynthetic process (GO:0071265)2.89715936
58ubiquinone biosynthetic process (GO:0006744)2.89621947
59aromatic amino acid family catabolic process (GO:0009074)2.89350982
60nucleoside transmembrane transport (GO:1901642)2.88726081
61tRNA aminoacylation for protein translation (GO:0006418)2.88475411
622-deoxyribonucleotide biosynthetic process (GO:0009265)2.88207612
63deoxyribose phosphate biosynthetic process (GO:0046385)2.88207612
64negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.85691059
65nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.85681989
66branched-chain amino acid metabolic process (GO:0009081)2.84512972
67tRNA metabolic process (GO:0006399)2.84034383
68protein-cofactor linkage (GO:0018065)2.83769364
69amino acid activation (GO:0043038)2.83069343
70tRNA aminoacylation (GO:0043039)2.83069343
71peptidyl-histidine modification (GO:0018202)2.82788761
72quinone biosynthetic process (GO:1901663)2.81216222
73protoporphyrinogen IX biosynthetic process (GO:0006782)2.80139526
74GPI anchor metabolic process (GO:0006505)2.79290757
75heme biosynthetic process (GO:0006783)2.79110208
76heme metabolic process (GO:0042168)2.78927630
77tRNA modification (GO:0006400)2.77936239
78exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.77641242
79mitochondrial RNA metabolic process (GO:0000959)2.77264029
80DNA strand elongation involved in DNA replication (GO:0006271)2.75692490
81deoxyribose phosphate metabolic process (GO:0019692)2.75533211
82DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.74899641
83peptidyl-arginine omega-N-methylation (GO:0035247)2.72950414
84respiratory chain complex IV assembly (GO:0008535)2.72502465
85ribosome biogenesis (GO:0042254)2.70626212
86signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.68168423
87signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.68168423
88signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.68168423
89aerobic respiration (GO:0009060)2.67616945
90platelet dense granule organization (GO:0060155)2.67554371
91signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.66344751
92intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.66344751
93glycine metabolic process (GO:0006544)2.66028947
94water-soluble vitamin biosynthetic process (GO:0042364)2.66015777
95galactose catabolic process (GO:0019388)2.64035268
96C-terminal protein amino acid modification (GO:0018410)2.63873306
97polyketide metabolic process (GO:0030638)2.63854918
98doxorubicin metabolic process (GO:0044598)2.63854918
99daunorubicin metabolic process (GO:0044597)2.63854918
100indolalkylamine catabolic process (GO:0046218)2.63775231

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.17410005
2JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.09012178
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.87975162
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.43838005
5ETS1_20019798_ChIP-Seq_JURKAT_Human3.09511173
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.86628068
7SRF_21415370_ChIP-Seq_HL-1_Mouse2.86452681
8MYC_18358816_ChIP-ChIP_MESCs_Mouse2.82669413
9MYC_18555785_ChIP-Seq_MESCs_Mouse2.82267374
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.80965042
11EST1_17652178_ChIP-ChIP_JURKAT_Human2.78341639
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.71429215
13TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.62886145
14PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.59114902
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.43156646
16ELF1_17652178_ChIP-ChIP_JURKAT_Human2.42386019
17CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.39530199
18GABP_19822575_ChIP-Seq_HepG2_Human2.37102753
19VDR_23849224_ChIP-Seq_CD4+_Human2.36820640
20CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.29521366
21THAP11_20581084_ChIP-Seq_MESCs_Mouse2.26957485
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.20552705
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.19973353
24PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.11998038
25E2F1_18555785_ChIP-Seq_MESCs_Mouse2.08347489
26FOXP3_21729870_ChIP-Seq_TREG_Human2.07323608
27DCP1A_22483619_ChIP-Seq_HELA_Human2.06982141
28CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.03626102
29MYC_19030024_ChIP-ChIP_MESCs_Mouse2.01916115
30XRN2_22483619_ChIP-Seq_HELA_Human2.01901895
31NELFA_20434984_ChIP-Seq_ESCs_Mouse1.96373209
32YY1_21170310_ChIP-Seq_MESCs_Mouse1.95767915
33ZNF263_19887448_ChIP-Seq_K562_Human1.91591683
34E2F7_22180533_ChIP-Seq_HELA_Human1.86937387
35ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.78404027
36FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.75553715
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.65800280
38TTF2_22483619_ChIP-Seq_HELA_Human1.64483470
39CIITA_25753668_ChIP-Seq_RAJI_Human1.63498285
40CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.62679781
41CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.58913901
42ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.57891520
43BP1_19119308_ChIP-ChIP_Hs578T_Human1.56585649
44DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.55746299
45MYC_19079543_ChIP-ChIP_MESCs_Mouse1.55678171
46SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.53714283
47FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.52472457
48PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52419099
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49008903
50KDM5A_27292631_Chip-Seq_BREAST_Human1.45153447
51ELF1_20517297_ChIP-Seq_JURKAT_Human1.45065528
52HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.44252252
53CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.42964366
54E2F4_17652178_ChIP-ChIP_JURKAT_Human1.42853459
55BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.42553448
56PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.38740173
57TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.38737255
58BCL6_27268052_Chip-Seq_Bcells_Human1.38375496
59ELK1_19687146_ChIP-ChIP_HELA_Human1.36100108
60FOXP1_21924763_ChIP-Seq_HESCs_Human1.36026623
61MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.33891897
62ZNF274_21170338_ChIP-Seq_K562_Hela1.31905453
63EGR1_23403033_ChIP-Seq_LIVER_Mouse1.31065382
64TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.30267968
65SRY_22984422_ChIP-ChIP_TESTIS_Rat1.28167948
66YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.24024080
67IRF1_19129219_ChIP-ChIP_H3396_Human1.23334032
68TET1_21451524_ChIP-Seq_MESCs_Mouse1.22326365
69ERG_20887958_ChIP-Seq_HPC-7_Mouse1.21567929
70EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.17992882
71IRF8_22096565_ChIP-ChIP_GC-B_Human1.16974735
72FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.16166378
73CTCF_18555785_ChIP-Seq_MESCs_Mouse1.15657889
74BCOR_27268052_Chip-Seq_Bcells_Human1.14588926
75E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.13810369
76ZFX_18555785_ChIP-Seq_MESCs_Mouse1.11738642
77MYC_18940864_ChIP-ChIP_HL60_Human1.09977318
78YY1_22570637_ChIP-Seq_MALME-3M_Human1.09773382
79SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.08961586
80POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.08948777
81E2F1_20622854_ChIP-Seq_HELA_Human1.08299644
82P300_27268052_Chip-Seq_Bcells_Human1.07940143
83RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.07437007
84PHF8_20622854_ChIP-Seq_HELA_Human1.05912508
85DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.05583352
86PADI4_21655091_ChIP-ChIP_MCF-7_Human1.04212632
87CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.01311768
88NANOG_18555785_ChIP-Seq_MESCs_Mouse1.01283386
89POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.00849504
90P68_20966046_ChIP-Seq_HELA_Human1.00023621
91MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.98450041
92PPARA_22158963_ChIP-Seq_LIVER_Mouse0.97822025
93RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.97698582
94HIF1A_21447827_ChIP-Seq_MCF-7_Human0.96254288
95RXR_22158963_ChIP-Seq_LIVER_Mouse0.96196956
96FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95895850
97TP53_22573176_ChIP-Seq_HFKS_Human0.93280287
98SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.91673081
99CTCF_20526341_ChIP-Seq_ESCs_Human0.90665091
100SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89714059

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis4.39329195
2MP0008875_abnormal_xenobiotic_pharmacok3.99766718
3MP0003806_abnormal_nucleotide_metabolis3.79931738
4MP0000372_irregular_coat_pigmentation3.47625794
5MP0005645_abnormal_hypothalamus_physiol3.38917517
6MP0004147_increased_porphyrin_level3.22691882
7MP0008058_abnormal_DNA_repair3.21913835
8MP0001764_abnormal_homeostasis3.04282345
9MP0003195_calcinosis2.67111916
10MP0002139_abnormal_hepatobiliary_system2.58240297
11MP0006036_abnormal_mitochondrial_physio2.32906670
12MP0005365_abnormal_bile_salt2.27498669
13MP0010094_abnormal_chromosome_stability2.20121161
14MP0003718_maternal_effect2.19185336
15MP0005085_abnormal_gallbladder_physiolo2.11317447
16MP0009697_abnormal_copulation2.08990141
17MP0005332_abnormal_amino_acid2.07270050
18MP0003786_premature_aging1.94177017
19MP0006035_abnormal_mitochondrial_morpho1.81111136
20MP0003186_abnormal_redox_activity1.80048123
21MP0005646_abnormal_pituitary_gland1.77684810
22MP0006276_abnormal_autonomic_nervous1.77635352
23MP0002653_abnormal_ependyma_morphology1.63653653
24MP0005584_abnormal_enzyme/coenzyme_acti1.58086390
25MP0003693_abnormal_embryo_hatching1.56522756
26MP0003122_maternal_imprinting1.52079652
27MP0008872_abnormal_physiological_respon1.46419593
28MP0005075_abnormal_melanosome_morpholog1.42966312
29MP0005083_abnormal_biliary_tract1.42852143
30MP0010329_abnormal_lipoprotein_level1.42287013
31MP0003111_abnormal_nucleus_morphology1.38997275
32MP0005410_abnormal_fertilization1.38615410
33MP0001666_abnormal_nutrient_absorption1.38095167
34MP0003252_abnormal_bile_duct1.36609334
35MP0005670_abnormal_white_adipose1.31417219
36MP0009840_abnormal_foam_cell1.30807672
37MP0008877_abnormal_DNA_methylation1.30479638
38MP0005423_abnormal_somatic_nervous1.28809952
39MP0001986_abnormal_taste_sensitivity1.27526143
40MP0005636_abnormal_mineral_homeostasis1.27404932
41MP0001529_abnormal_vocalization1.27131756
42MP0005551_abnormal_eye_electrophysiolog1.26210242
43MP0008995_early_reproductive_senescence1.23806353
44MP0003077_abnormal_cell_cycle1.23379955
45MP0003121_genomic_imprinting1.19500901
46MP0008007_abnormal_cellular_replicative1.18917015
47MP0000609_abnormal_liver_physiology1.17684676
48MP0000358_abnormal_cell_content/1.17170043
49MP0002938_white_spotting1.14584017
50MP0005084_abnormal_gallbladder_morpholo1.14569103
51MP0009643_abnormal_urine_homeostasis1.11365563
52MP0002102_abnormal_ear_morphology1.11108737
53MP0000681_abnormal_thyroid_gland1.10210728
54MP0002282_abnormal_trachea_morphology1.10061047
55MP0003880_abnormal_central_pattern1.10027567
56MP0009333_abnormal_splenocyte_physiolog1.07131949
57MP0008789_abnormal_olfactory_epithelium1.06262161
58MP0002118_abnormal_lipid_homeostasis1.05619406
59MP0009780_abnormal_chondrocyte_physiolo1.05193380
60MP0002736_abnormal_nociception_after1.04861315
61MP0002638_abnormal_pupillary_reflex1.04745720
62MP0002019_abnormal_tumor_incidence0.99791827
63MP0005319_abnormal_enzyme/_coenzyme0.98012405
64MP0002234_abnormal_pharynx_morphology0.97694124
65MP0008932_abnormal_embryonic_tissue0.97331312
66MP0001905_abnormal_dopamine_level0.96386777
67MP0006072_abnormal_retinal_apoptosis0.95831349
68MP0004957_abnormal_blastocyst_morpholog0.95735608
69MP0010386_abnormal_urinary_bladder0.94491170
70MP0002876_abnormal_thyroid_physiology0.94356643
71MP0004133_heterotaxia0.93605182
72MP0003638_abnormal_response/metabolism_0.90877744
73MP0005376_homeostasis/metabolism_phenot0.90484076
74MP0000639_abnormal_adrenal_gland0.83431459
75MP0005671_abnormal_response_to0.80369328
76MP0005330_cardiomyopathy0.80281065
77MP0005253_abnormal_eye_physiology0.79782872
78MP0000598_abnormal_liver_morphology0.78077733
79MP0006292_abnormal_olfactory_placode0.75122782
80MP0009642_abnormal_blood_homeostasis0.74330799
81MP0005408_hypopigmentation0.73929670
82MP0003183_abnormal_peptide_metabolism0.72826115
83MP0003656_abnormal_erythrocyte_physiolo0.70087297
84MP0005395_other_phenotype0.69875190
85MP0002138_abnormal_hepatobiliary_system0.69654538
86MP0005394_taste/olfaction_phenotype0.68438499
87MP0005499_abnormal_olfactory_system0.68438499
88MP0002160_abnormal_reproductive_system0.68233069
89MP0001756_abnormal_urination0.68216871
90MP0008469_abnormal_protein_level0.68192124
91MP0008873_increased_physiological_sensi0.67329959
92MP0009046_muscle_twitch0.66201539
93MP0000013_abnormal_adipose_tissue0.65795392
94MP0001984_abnormal_olfaction0.65725751
95MP0003698_abnormal_male_reproductive0.63545670
96MP0001661_extended_life_span0.63316153
97MP0001545_abnormal_hematopoietic_system0.63195539
98MP0005397_hematopoietic_system_phenotyp0.63195539
99MP0001929_abnormal_gametogenesis0.61934993
100MP0004142_abnormal_muscle_tone0.61420961

Predicted human phenotypes

RankGene SetZ-score
1Acute encephalopathy (HP:0006846)4.89651747
2Type I transferrin isoform profile (HP:0003642)4.37151193
3Acute necrotizing encephalopathy (HP:0006965)4.31429022
4Abnormal mitochondria in muscle tissue (HP:0008316)4.26102230
5Mitochondrial inheritance (HP:0001427)4.21843428
6Hepatocellular necrosis (HP:0001404)4.11260430
7Reduced antithrombin III activity (HP:0001976)4.04477000
8Increased CSF lactate (HP:0002490)3.97486907
9Abnormality of glycolysis (HP:0004366)3.86131138
10Abnormal protein N-linked glycosylation (HP:0012347)3.81467426
11Abnormal protein glycosylation (HP:0012346)3.81467426
12Abnormal glycosylation (HP:0012345)3.81467426
13Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.81467426
14Hepatic necrosis (HP:0002605)3.79801999
15Increased serum pyruvate (HP:0003542)3.58887425
16Cerebral edema (HP:0002181)3.32203966
17Progressive macrocephaly (HP:0004481)3.23012833
18Lactic acidosis (HP:0003128)3.21421778
19Cholecystitis (HP:0001082)3.20408061
20Abnormal gallbladder physiology (HP:0012438)3.20408061
21Increased serum lactate (HP:0002151)3.18865673
22Hypoplasia of the pons (HP:0012110)3.16862120
23Abnormality of aromatic amino acid family metabolism (HP:0004338)3.15724126
24Progressive microcephaly (HP:0000253)2.97775609
25Increased intramyocellular lipid droplets (HP:0012240)2.96037262
26Increased hepatocellular lipid droplets (HP:0006565)2.95920663
27Testicular atrophy (HP:0000029)2.94993641
28Hyperglycinuria (HP:0003108)2.86482054
29Lipid accumulation in hepatocytes (HP:0006561)2.86179283
30Abnormality of the pons (HP:0007361)2.85973538
31Hyperglycinemia (HP:0002154)2.85460869
32Lethargy (HP:0001254)2.82930316
33Delayed CNS myelination (HP:0002188)2.82130229
34Renal Fanconi syndrome (HP:0001994)2.82098934
35Decreased electroretinogram (ERG) amplitude (HP:0000654)2.80408492
36Prolonged partial thromboplastin time (HP:0003645)2.66760111
37Abnormality of glycine metabolism (HP:0010895)2.64733105
38Abnormality of serine family amino acid metabolism (HP:0010894)2.64733105
39Increased muscle lipid content (HP:0009058)2.63465968
40Abnormal number of erythroid precursors (HP:0012131)2.60683588
41Opisthotonus (HP:0002179)2.49380772
42Emotional lability (HP:0000712)2.47490862
43Optic disc pallor (HP:0000543)2.47005840
44Exercise intolerance (HP:0003546)2.46581826
45Hyperammonemia (HP:0001987)2.43281149
46Rhabdomyolysis (HP:0003201)2.38843372
47Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.38834778
48Hypobetalipoproteinemia (HP:0003563)2.38381266
49Cerebral palsy (HP:0100021)2.35373320
50Dicarboxylic aciduria (HP:0003215)2.33916812
51Abnormality of dicarboxylic acid metabolism (HP:0010995)2.33916812
52Microretrognathia (HP:0000308)2.33147446
53Respiratory failure (HP:0002878)2.32753695
54Decreased activity of mitochondrial respiratory chain (HP:0008972)2.30855133
55Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.30855133
56Abnormality of alanine metabolism (HP:0010916)2.26950728
57Hyperalaninemia (HP:0003348)2.26950728
58Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.26950728
59Pendular nystagmus (HP:0012043)2.26189816
60CNS demyelination (HP:0007305)2.23061477
61Hypergonadotropic hypogonadism (HP:0000815)2.16555080
62Molar tooth sign on MRI (HP:0002419)2.13469164
63Abnormality of midbrain morphology (HP:0002418)2.13469164
64Prolonged neonatal jaundice (HP:0006579)2.10049056
65Spastic paraparesis (HP:0002313)2.09314155
66Ketosis (HP:0001946)2.09287132
67Congenital stationary night blindness (HP:0007642)2.08183455
68Degeneration of anterior horn cells (HP:0002398)2.04971507
69Abnormality of the anterior horn cell (HP:0006802)2.04971507
70Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.02357846
71Abnormality of cells of the erythroid lineage (HP:0012130)2.00481614
72Severe visual impairment (HP:0001141)1.99449738
73Spontaneous abortion (HP:0005268)1.97025889
74Abnormality of serum amino acid levels (HP:0003112)1.96570737
75Mesangial abnormality (HP:0001966)1.95554886
76Death in infancy (HP:0001522)1.95067791
77Agammaglobulinemia (HP:0004432)1.93253529
78Generalized aminoaciduria (HP:0002909)1.89963833
79Increased neuronal autofluorescent lipopigment (HP:0002074)1.85599194
80Birth length less than 3rd percentile (HP:0003561)1.84679940
81Methylmalonic aciduria (HP:0012120)1.84325949
82Epiphyseal stippling (HP:0010655)1.81958036
83Ragged-red muscle fibers (HP:0003200)1.80546403
84Severe muscular hypotonia (HP:0006829)1.79733889
85Leukodystrophy (HP:0002415)1.78040306
86Abnormality of methionine metabolism (HP:0010901)1.76661374
87Metabolic acidosis (HP:0001942)1.76431076
88Vomiting (HP:0002013)1.76044008
89Gliosis (HP:0002171)1.73632813
90Glycosuria (HP:0003076)1.72248640
91Abnormality of urine glucose concentration (HP:0011016)1.72248640
92Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.70360980
93Exertional dyspnea (HP:0002875)1.70294203
94Microvesicular hepatic steatosis (HP:0001414)1.69474031
95Vacuolated lymphocytes (HP:0001922)1.69465217
96Abnormality of pyrimidine metabolism (HP:0004353)1.69443046
97Nephronophthisis (HP:0000090)1.67895627
98Joint hemorrhage (HP:0005261)1.66211767
99Myoglobinuria (HP:0002913)1.65338689
100Hypoproteinemia (HP:0003075)1.62913451

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.97409861
2BCKDK4.70536361
3PIM23.60250760
4KDR3.26370172
5NUAK12.99821363
6SCYL22.92116424
7TESK22.80168661
8CDK192.77803672
9ZAK2.46500679
10NME22.40299871
11VRK12.27855440
12MAP4K21.91847179
13CSNK1G31.84717228
14MAP2K71.82727205
15BUB11.75167698
16MAP3K111.72051440
17SRPK11.71851520
18STK161.70338717
19ERN11.68926408
20TESK11.61911101
21CSNK1A1L1.58653005
22TLK11.57787085
23PLK41.54923066
24CDC71.45952254
25CCNB11.40318630
26PBK1.33280146
27MST41.33136542
28TSSK61.30341733
29CSNK1G11.28835086
30CSNK1G21.26214022
31MAP3K121.20261368
32RPS6KA51.13266193
33EPHA21.11402450
34LATS11.11073629
35BMPR1B1.09838092
36DYRK21.09809872
37MATK1.09612941
38TAOK31.06578757
39MST1R0.96587495
40WNK40.95948083
41LIMK10.95218475
42FLT30.94227282
43ABL20.93762555
44ACVR1B0.91131686
45NEK10.90314255
46TNK20.89280771
47DAPK10.83262896
48RPS6KA40.81128273
49ATR0.80340627
50MAPKAPK30.78407086
51AURKA0.75981160
52GRK10.73962524
53PDK20.72491253
54ARAF0.72379215
55CDK70.71491724
56EPHA30.71021274
57NME10.65976658
58MAP2K30.65500786
59BRSK10.63882817
60WNK30.62398101
61ADRBK20.61444418
62ADRBK10.61128003
63TRIM280.60001073
64CHEK20.59815275
65DAPK30.58664375
66NTRK10.54895559
67DYRK1B0.53978689
68MAP4K10.51708356
69BRSK20.49556956
70PLK10.48570687
71GRK60.47580261
72MAP2K60.47540920
73CSNK2A20.47248576
74WEE10.46818696
75CAMKK20.45557189
76PRKCI0.45448487
77CSNK2A10.45280945
78AURKB0.43092588
79IKBKB0.42940830
80EIF2AK10.42512998
81CSNK1A10.41591260
82GRK50.41317770
83RAF10.37642563
84ITK0.36424749
85PLK20.36055388
86PRKCQ0.33779729
87PIM10.33075960
88ILK0.32123131
89MUSK0.30793586
90BCR0.29688220
91CAMK2G0.27956776
92TIE10.27262790
93CDK80.27175779
94TBK10.26792732
95IRAK30.26614916
96MAP2K40.23343742
97INSRR0.21239065
98CSNK1D0.21043619
99PLK30.17988973
100KIT0.16490459

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030502.91301555
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.52239463
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.50682331
4Sulfur relay system_Homo sapiens_hsa041222.44893764
5Cyanoamino acid metabolism_Homo sapiens_hsa004602.44293315
6DNA replication_Homo sapiens_hsa030302.43027538
7Oxidative phosphorylation_Homo sapiens_hsa001902.36232665
8Base excision repair_Homo sapiens_hsa034102.35388893
9RNA polymerase_Homo sapiens_hsa030202.30679837
10Parkinsons disease_Homo sapiens_hsa050122.08533335
11Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.08354843
12Biosynthesis of amino acids_Homo sapiens_hsa012302.00006266
13Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95355399
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.88654432
15Mismatch repair_Homo sapiens_hsa034301.87105290
16Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.86443917
17Pyrimidine metabolism_Homo sapiens_hsa002401.80814161
18One carbon pool by folate_Homo sapiens_hsa006701.80531253
19Fatty acid elongation_Homo sapiens_hsa000621.79968295
20Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.64012097
21Fructose and mannose metabolism_Homo sapiens_hsa000511.62386732
22Pyruvate metabolism_Homo sapiens_hsa006201.62323718
23Homologous recombination_Homo sapiens_hsa034401.62002822
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60887535
25Peroxisome_Homo sapiens_hsa041461.50644750
26Carbon metabolism_Homo sapiens_hsa012001.49144499
27Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.47366458
28Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.45873348
29Ribosome_Homo sapiens_hsa030101.44317028
30Folate biosynthesis_Homo sapiens_hsa007901.36157461
31Huntingtons disease_Homo sapiens_hsa050161.33849648
32Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.30199287
33Steroid biosynthesis_Homo sapiens_hsa001001.29276687
34Glutathione metabolism_Homo sapiens_hsa004801.29154706
35Sulfur metabolism_Homo sapiens_hsa009201.29102888
36Fanconi anemia pathway_Homo sapiens_hsa034601.27878707
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.27357281
38Propanoate metabolism_Homo sapiens_hsa006401.25978045
39Alzheimers disease_Homo sapiens_hsa050101.19945494
40Primary bile acid biosynthesis_Homo sapiens_hsa001201.17089399
41Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.14702742
42Nucleotide excision repair_Homo sapiens_hsa034201.14593272
43Fatty acid metabolism_Homo sapiens_hsa012121.14553593
44Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.13425824
45N-Glycan biosynthesis_Homo sapiens_hsa005101.12996600
46Phenylalanine metabolism_Homo sapiens_hsa003601.12640368
47Tyrosine metabolism_Homo sapiens_hsa003501.11354417
48Fatty acid degradation_Homo sapiens_hsa000711.10407817
49Butanoate metabolism_Homo sapiens_hsa006501.10101344
50Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.09344768
51Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.07442892
52Arginine biosynthesis_Homo sapiens_hsa002201.06994702
53Metabolic pathways_Homo sapiens_hsa011001.00205096
54Protein export_Homo sapiens_hsa030600.99355561
55Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.99197922
56Purine metabolism_Homo sapiens_hsa002300.98559150
57Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.96548252
58Pentose phosphate pathway_Homo sapiens_hsa000300.96475319
59Tryptophan metabolism_Homo sapiens_hsa003800.95913873
60Systemic lupus erythematosus_Homo sapiens_hsa053220.94577916
61Pentose and glucuronate interconversions_Homo sapiens_hsa000400.93441560
62RNA degradation_Homo sapiens_hsa030180.93168912
63Steroid hormone biosynthesis_Homo sapiens_hsa001400.92063198
64Chemical carcinogenesis_Homo sapiens_hsa052040.91378467
65Primary immunodeficiency_Homo sapiens_hsa053400.90347793
66Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.86984671
67Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.86753334
68Spliceosome_Homo sapiens_hsa030400.86444286
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.86168966
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85842089
71Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.85234322
72Galactose metabolism_Homo sapiens_hsa000520.83701119
73Caffeine metabolism_Homo sapiens_hsa002320.82428641
74Drug metabolism - other enzymes_Homo sapiens_hsa009830.79543464
75Phototransduction_Homo sapiens_hsa047440.78841501
76Arginine and proline metabolism_Homo sapiens_hsa003300.78691624
77Asthma_Homo sapiens_hsa053100.75332360
78Selenocompound metabolism_Homo sapiens_hsa004500.73465488
79Non-homologous end-joining_Homo sapiens_hsa034500.72479113
80RNA transport_Homo sapiens_hsa030130.69821719
81Other glycan degradation_Homo sapiens_hsa005110.67110243
82Fat digestion and absorption_Homo sapiens_hsa049750.65088328
83beta-Alanine metabolism_Homo sapiens_hsa004100.61836158
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.61613069
85SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60114996
86Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.59895094
87Arachidonic acid metabolism_Homo sapiens_hsa005900.59784861
88Complement and coagulation cascades_Homo sapiens_hsa046100.57730595
89Retinol metabolism_Homo sapiens_hsa008300.53978367
90Maturity onset diabetes of the young_Homo sapiens_hsa049500.51272178
91Glycosaminoglycan degradation_Homo sapiens_hsa005310.48407101
92Fatty acid biosynthesis_Homo sapiens_hsa000610.46988814
93Vitamin digestion and absorption_Homo sapiens_hsa049770.43026687
94Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42269071
95Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.42267074
96Nitrogen metabolism_Homo sapiens_hsa009100.39373052
97Linoleic acid metabolism_Homo sapiens_hsa005910.39302614
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.39090305
99Intestinal immune network for IgA production_Homo sapiens_hsa046720.37804622
100alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.37495224

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