ACTG1P16

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
1establishment of protein localization to mitochondrial membrane (GO:0090151)5.71787904
2DNA deamination (GO:0045006)5.42110118
3chaperone-mediated protein transport (GO:0072321)5.26805176
4tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)5.13416730
5RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)5.13416730
6proteasome assembly (GO:0043248)4.96241263
7energy coupled proton transport, down electrochemical gradient (GO:0015985)4.90539774
8ATP synthesis coupled proton transport (GO:0015986)4.90539774
9protein deneddylation (GO:0000338)4.84493556
10protein-cofactor linkage (GO:0018065)4.60530924
11mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.60415108
12cullin deneddylation (GO:0010388)4.56489908
13mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.36153502
14mitochondrial respiratory chain complex I assembly (GO:0032981)4.36153502
15NADH dehydrogenase complex assembly (GO:0010257)4.36153502
16exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.12092621
17protein neddylation (GO:0045116)4.08411997
18intracellular protein transmembrane import (GO:0044743)4.04930600
19mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.03426613
20adenosine metabolic process (GO:0046085)3.91336152
21nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.85293603
22DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.76663024
23regulation of cellular amino acid metabolic process (GO:0006521)3.69686900
24maturation of 5.8S rRNA (GO:0000460)3.69446809
25negative regulation of thymocyte apoptotic process (GO:0070244)3.69171598
26respiratory electron transport chain (GO:0022904)3.68323634
27intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.66716943
28signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.66716943
29signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.63746790
30signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.63746790
31signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.63746790
32DNA damage response, detection of DNA damage (GO:0042769)3.62207290
33protein complex biogenesis (GO:0070271)3.61894987
34electron transport chain (GO:0022900)3.61284425
35water-soluble vitamin biosynthetic process (GO:0042364)3.58651269
36negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.58485615
37respiratory chain complex IV assembly (GO:0008535)3.54766604
38protein peptidyl-prolyl isomerization (GO:0000413)3.53243724
39chaperone mediated protein folding requiring cofactor (GO:0051085)3.52837575
40signal transduction involved in DNA integrity checkpoint (GO:0072401)3.47045648
41signal transduction involved in DNA damage checkpoint (GO:0072422)3.47045648
42mitochondrial respiratory chain complex assembly (GO:0033108)3.41784131
43signal transduction involved in cell cycle checkpoint (GO:0072395)3.41324327
44positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.37149510
45autophagic vacuole fusion (GO:0000046)3.36269892
46rRNA modification (GO:0000154)3.31773051
47DNA catabolic process, exonucleolytic (GO:0000738)3.30974794
48IMP biosynthetic process (GO:0006188)3.30847297
49pseudouridine synthesis (GO:0001522)3.28632727
50negative regulation of ligase activity (GO:0051352)3.26694847
51negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.26694847
52regulation of T-helper 1 cell differentiation (GO:0045625)3.25196626
53RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.19971976
54antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.18651682
55regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.06944174
56protein targeting to mitochondrion (GO:0006626)3.06138409
57cellular response to interferon-beta (GO:0035458)3.05054652
58protein localization to mitochondrion (GO:0070585)3.04147698
59intracellular protein transmembrane transport (GO:0065002)3.04098778
60positive regulation of antigen processing and presentation (GO:0002579)3.02495248
61antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.00783248
62ATP biosynthetic process (GO:0006754)3.00547482
63purine nucleoside triphosphate biosynthetic process (GO:0009145)2.97556001
64tRNA processing (GO:0008033)2.96707145
65rRNA methylation (GO:0031167)2.93993593
66purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.93002341
67rRNA catabolic process (GO:0016075)2.91752625
68ubiquinone biosynthetic process (GO:0006744)2.89908936
69purine nucleobase biosynthetic process (GO:0009113)2.88326854
70establishment of protein localization to mitochondrion (GO:0072655)2.87925175
71anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.87442440
72organelle membrane fusion (GO:0090174)2.86692476
73protein localization to peroxisome (GO:0072662)2.86088653
74protein targeting to peroxisome (GO:0006625)2.86088653
75establishment of protein localization to peroxisome (GO:0072663)2.86088653
76positive regulation of mitochondrial fission (GO:0090141)2.85735401
77deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.85180106
78positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.81158371
79positive regulation of cell cycle arrest (GO:0071158)2.78423836
80peptidyl-proline modification (GO:0018208)2.76487740
81ubiquinone metabolic process (GO:0006743)2.75235081
82purine nucleotide salvage (GO:0032261)2.75101290
83positive thymic T cell selection (GO:0045059)2.74876237
84de novo protein folding (GO:0006458)2.73555955
85regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.73198827
86regulation of cellular amine metabolic process (GO:0033238)2.71725491
87purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.71111995
88response to interferon-beta (GO:0035456)2.70413105
89positive regulation of ligase activity (GO:0051351)2.70122918
90purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.69402818
91purine nucleoside monophosphate biosynthetic process (GO:0009127)2.69402818
92GTP biosynthetic process (GO:0006183)2.69109395
93oxidative phosphorylation (GO:0006119)2.68368589
94protein transmembrane transport (GO:0071806)2.68292070
95ribonucleoprotein complex disassembly (GO:0032988)2.67154958
96DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.66816508
97AMP metabolic process (GO:0046033)2.66675181
98regulation of thymocyte apoptotic process (GO:0070243)2.66117750
99de novo posttranslational protein folding (GO:0051084)2.65980954
100negative regulation of B cell apoptotic process (GO:0002903)2.65379531

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.36159335
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.36117434
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.05780829
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.87526517
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.83237271
6VDR_22108803_ChIP-Seq_LS180_Human3.43074040
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.30656774
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.22666658
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.12483033
10ELF1_17652178_ChIP-ChIP_JURKAT_Human3.12206170
11ETS1_20019798_ChIP-Seq_JURKAT_Human3.12014755
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.94234698
13IGF1R_20145208_ChIP-Seq_DFB_Human2.91874635
14VDR_23849224_ChIP-Seq_CD4+_Human2.90262025
15SRF_21415370_ChIP-Seq_HL-1_Mouse2.45092074
16CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.38238446
17YY1_21170310_ChIP-Seq_MESCs_Mouse2.26632318
18CIITA_25753668_ChIP-Seq_RAJI_Human2.24094988
19ZNF274_21170338_ChIP-Seq_K562_Hela2.11370511
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.10831307
21IRF8_22096565_ChIP-ChIP_GC-B_Human2.06252869
22ELK1_19687146_ChIP-ChIP_HELA_Human2.06228086
23FLI1_27457419_Chip-Seq_LIVER_Mouse1.96575051
24FOXP3_21729870_ChIP-Seq_TREG_Human1.93667350
25EWS_26573619_Chip-Seq_HEK293_Human1.86894702
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.78354801
27IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.75384117
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.74366497
29IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.73439170
30GABP_19822575_ChIP-Seq_HepG2_Human1.72183949
31PCGF2_27294783_Chip-Seq_ESCs_Mouse1.70890041
32CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.63549037
33GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.61770903
34DCP1A_22483619_ChIP-Seq_HELA_Human1.59844699
35THAP11_20581084_ChIP-Seq_MESCs_Mouse1.57405724
36TAF15_26573619_Chip-Seq_HEK293_Human1.55304002
37CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.53946243
38MYC_18555785_ChIP-Seq_MESCs_Mouse1.51521247
39MYC_18358816_ChIP-ChIP_MESCs_Mouse1.46774111
40FUS_26573619_Chip-Seq_HEK293_Human1.44413921
41PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.43639519
42CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.42333494
43PADI4_21655091_ChIP-ChIP_MCF-7_Human1.41471915
44MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.39906708
45ZFP57_27257070_Chip-Seq_ESCs_Mouse1.37211731
46CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.34577986
47FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.33892165
48IRF8_21731497_ChIP-ChIP_J774_Mouse1.31012125
49PCGF2_27294783_Chip-Seq_NPCs_Mouse1.30726730
50FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.27704567
51MYC_18940864_ChIP-ChIP_HL60_Human1.26400975
52POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24908550
53HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19571909
54CBP_20019798_ChIP-Seq_JUKART_Human1.17203824
55IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17203824
56HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.17186065
57MYC_19030024_ChIP-ChIP_MESCs_Mouse1.15390201
58PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.15087018
59EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.15071578
60MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.13989257
61TTF2_22483619_ChIP-Seq_HELA_Human1.12262499
62NOTCH1_21737748_ChIP-Seq_TLL_Human1.11934973
63GATA3_26560356_Chip-Seq_TH2_Human1.11655354
64RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10308267
65E2F1_18555785_ChIP-Seq_MESCs_Mouse1.10261955
66SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.09583385
67SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.09125386
68FOXA1_25329375_ChIP-Seq_VCAP_Human1.08703407
69FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08703407
70CTBP2_25329375_ChIP-Seq_LNCAP_Human1.08326374
71ER_23166858_ChIP-Seq_MCF-7_Human1.08104332
72ERG_20517297_ChIP-Seq_VCAP_Human1.07574332
73STAT4_19710469_ChIP-ChIP_TH1__Mouse1.07469111
74CTBP1_25329375_ChIP-Seq_LNCAP_Human1.06879319
75EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.05673725
76TP53_22573176_ChIP-Seq_HFKS_Human1.05236376
77NFE2_27457419_Chip-Seq_LIVER_Mouse1.04499170
78ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.01956968
79HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.99498889
80NANOG_19829295_ChIP-Seq_ESCs_Human0.98591072
81SOX2_19829295_ChIP-Seq_ESCs_Human0.98591072
82YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97219360
83FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97102651
84NCOR_22424771_ChIP-Seq_293T_Human0.95552991
85SUZ12_27294783_Chip-Seq_NPCs_Mouse0.94248019
86POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.94024529
87AR_21572438_ChIP-Seq_LNCaP_Human0.93032413
88SPI1_23547873_ChIP-Seq_NB4_Human0.92343045
89E2F4_17652178_ChIP-ChIP_JURKAT_Human0.91980012
90LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.91898596
91AUTS2_25519132_ChIP-Seq_293T-REX_Human0.89814582
92CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.88781917
93PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.88392919
94BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.88164597
95CRX_20693478_ChIP-Seq_RETINA_Mouse0.86987120
96HOXB7_26014856_ChIP-Seq_BT474_Human0.84792119
97P300_19829295_ChIP-Seq_ESCs_Human0.83069534
98EZH2_27294783_Chip-Seq_NPCs_Mouse0.82856898
99AR_20517297_ChIP-Seq_VCAP_Human0.82722442
100XRN2_22483619_ChIP-Seq_HELA_Human0.82317843

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.37132473
2MP0005084_abnormal_gallbladder_morpholo3.22677707
3MP0001529_abnormal_vocalization3.15851958
4MP0002102_abnormal_ear_morphology2.87927914
5MP0002736_abnormal_nociception_after2.86741503
6MP0005645_abnormal_hypothalamus_physiol2.64334454
7MP0000569_abnormal_digit_pigmentation2.50758333
8MP0001905_abnormal_dopamine_level2.46750780
9MP0004145_abnormal_muscle_electrophysio2.37781541
10MP0001986_abnormal_taste_sensitivity2.36615996
11MP0003283_abnormal_digestive_organ2.31250620
12MP0002138_abnormal_hepatobiliary_system2.29218575
13MP0003806_abnormal_nucleotide_metabolis2.27829038
14MP0009785_altered_susceptibility_to2.18953484
15MP0006036_abnormal_mitochondrial_physio2.11600152
16MP0008875_abnormal_xenobiotic_pharmacok2.08423413
17MP0005083_abnormal_biliary_tract2.06617859
18MP0001968_abnormal_touch/_nociception2.02034158
19MP0000685_abnormal_immune_system1.93883202
20MP0002148_abnormal_hypersensitivity_rea1.93307456
21MP0002160_abnormal_reproductive_system1.91372492
22MP0002837_dystrophic_cardiac_calcinosis1.90545745
23MP0006035_abnormal_mitochondrial_morpho1.74642486
24MP0008872_abnormal_physiological_respon1.74235665
25MP0001800_abnormal_humoral_immune1.67312403
26MP0002822_catalepsy1.50356198
27MP0001188_hyperpigmentation1.46190083
28MP0005671_abnormal_response_to1.44635839
29MP0002735_abnormal_chemical_nociception1.44574912
30MP0003786_premature_aging1.43663126
31MP0005389_reproductive_system_phenotype1.41748144
32MP0004142_abnormal_muscle_tone1.38983730
33MP0002166_altered_tumor_susceptibility1.38600208
34MP0005000_abnormal_immune_tolerance1.32235639
35MP0008058_abnormal_DNA_repair1.31724655
36MP0006054_spinal_hemorrhage1.31084939
37MP0008789_abnormal_olfactory_epithelium1.30151840
38MP0005165_increased_susceptibility_to1.27808995
39MP0005360_urolithiasis1.27774082
40MP0003186_abnormal_redox_activity1.25016108
41MP0005551_abnormal_eye_electrophysiolog1.24919691
42MP0002723_abnormal_immune_serum1.21661723
43MP0002452_abnormal_antigen_presenting1.21585900
44MP0001542_abnormal_bone_strength1.20170100
45MP0002234_abnormal_pharynx_morphology1.17173149
46MP0001790_abnormal_immune_system1.16709268
47MP0005387_immune_system_phenotype1.16709268
48MP0001919_abnormal_reproductive_system1.15807693
49MP0004215_abnormal_myocardial_fiber1.13493959
50MP0002733_abnormal_thermal_nociception1.12068140
51MP0010094_abnormal_chromosome_stability1.08414030
52MP0002006_tumorigenesis1.06856170
53MP0001756_abnormal_urination1.05049779
54MP0009053_abnormal_anal_canal1.03239666
55MP0002420_abnormal_adaptive_immunity1.01811536
56MP0004084_abnormal_cardiac_muscle1.01610733
57MP0001819_abnormal_immune_cell1.00243817
58MP0009764_decreased_sensitivity_to0.99597060
59MP0009745_abnormal_behavioral_response0.98082046
60MP0000015_abnormal_ear_pigmentation0.95370591
61MP0001984_abnormal_olfaction0.94690775
62MP0003938_abnormal_ear_development0.92947516
63MP0010155_abnormal_intestine_physiology0.92837405
64MP0005025_abnormal_response_to0.92438083
65MP0002272_abnormal_nervous_system0.90823572
66MP0005410_abnormal_fertilization0.89437657
67MP0003763_abnormal_thymus_physiology0.88831805
68MP0000689_abnormal_spleen_morphology0.88071448
69MP0006292_abnormal_olfactory_placode0.87330805
70MP0005332_abnormal_amino_acid0.86923474
71MP0004147_increased_porphyrin_level0.85914032
72MP0005310_abnormal_salivary_gland0.84447832
73MP0003137_abnormal_impulse_conducting0.84253028
74MP0002734_abnormal_mechanical_nocicepti0.83576636
75MP0001970_abnormal_pain_threshold0.83544926
76MP0005464_abnormal_platelet_physiology0.82084175
77MP0002572_abnormal_emotion/affect_behav0.82039302
78MP0009333_abnormal_splenocyte_physiolog0.81608371
79MP0008932_abnormal_embryonic_tissue0.81142407
80MP0005174_abnormal_tail_pigmentation0.80797711
81MP0000358_abnormal_cell_content/0.78342900
82MP0000716_abnormal_immune_system0.78005211
83MP0004957_abnormal_blastocyst_morpholog0.77864344
84MP0003866_abnormal_defecation0.74251879
85MP0002638_abnormal_pupillary_reflex0.73939122
86MP0005167_abnormal_blood-brain_barrier0.73663307
87MP0000613_abnormal_salivary_gland0.73273982
88MP0009046_muscle_twitch0.73014491
89MP0001764_abnormal_homeostasis0.72888155
90MP0008873_increased_physiological_sensi0.71905669
91MP0002398_abnormal_bone_marrow0.71782121
92MP0004742_abnormal_vestibular_system0.70489957
93MP0000516_abnormal_urinary_system0.70230708
94MP0005367_renal/urinary_system_phenotyp0.70230708
95MP0004885_abnormal_endolymph0.70104614
96MP0000749_muscle_degeneration0.68799008
97MP0004133_heterotaxia0.68745908
98MP0002419_abnormal_innate_immunity0.68672916
99MP0001243_abnormal_dermal_layer0.67918168
100MP0009643_abnormal_urine_homeostasis0.66066079

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.51415829
2Abnormal mitochondria in muscle tissue (HP:0008316)4.82402243
3Mitochondrial inheritance (HP:0001427)4.80530728
4Progressive macrocephaly (HP:0004481)4.67051329
5Increased CSF lactate (HP:0002490)4.39683508
6Acute encephalopathy (HP:0006846)4.28751663
7Opisthotonus (HP:0002179)4.25989890
8Hepatocellular necrosis (HP:0001404)3.86612928
9Renal cortical cysts (HP:0000803)3.69564278
10Cerebral edema (HP:0002181)3.64904468
113-Methylglutaconic aciduria (HP:0003535)3.60362661
12Tubulointerstitial nephritis (HP:0001970)3.42171911
13Hepatic necrosis (HP:0002605)3.41999584
14Increased hepatocellular lipid droplets (HP:0006565)3.25191821
15Increased serum lactate (HP:0002151)3.02116797
16Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.01490693
17Decreased activity of mitochondrial respiratory chain (HP:0008972)3.01490693
18Lactic acidosis (HP:0003128)2.99881394
19Microvesicular hepatic steatosis (HP:0001414)2.99270967
20Elevated erythrocyte sedimentation rate (HP:0003565)2.99011864
21Respiratory failure (HP:0002878)2.98330926
22Mesangial abnormality (HP:0001966)2.93240668
23Lipid accumulation in hepatocytes (HP:0006561)2.93088630
24Renal Fanconi syndrome (HP:0001994)2.92784348
25Optic disc pallor (HP:0000543)2.63353439
26Increased serum pyruvate (HP:0003542)2.62093447
27Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.57699009
28Abnormality of alanine metabolism (HP:0010916)2.57699009
29Hyperalaninemia (HP:0003348)2.57699009
30Dynein arm defect of respiratory motile cilia (HP:0012255)2.55569274
31Absent/shortened dynein arms (HP:0200106)2.55569274
32Exertional dyspnea (HP:0002875)2.49558988
33Progressive microcephaly (HP:0000253)2.48462229
34Exercise intolerance (HP:0003546)2.44832839
35Leukodystrophy (HP:0002415)2.42649524
36Abnormality of the renal cortex (HP:0011035)2.40757267
37Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.38623050
38Congenital stationary night blindness (HP:0007642)2.38122542
39Increased intramyocellular lipid droplets (HP:0012240)2.25831555
40Nausea (HP:0002018)2.24628227
41True hermaphroditism (HP:0010459)2.19967264
42Xerostomia (HP:0000217)2.19833427
43Entropion (HP:0000621)2.15425697
44Methylmalonic acidemia (HP:0002912)2.15092304
45Tubulointerstitial abnormality (HP:0001969)2.13890465
46Delayed CNS myelination (HP:0002188)2.12486908
47Methylmalonic aciduria (HP:0012120)2.12006988
48Hyperphosphaturia (HP:0003109)2.11662806
49Panhypogammaglobulinemia (HP:0003139)2.11038220
50Shoulder girdle muscle weakness (HP:0003547)2.11012354
51Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.10568987
52Pancreatic cysts (HP:0001737)2.09154611
53Abnormality of macular pigmentation (HP:0008002)2.08714122
54Pulmonary infiltrates (HP:0002113)2.08636089
55Decreased electroretinogram (ERG) amplitude (HP:0000654)2.08536702
56Tinnitus (HP:0000360)2.04782583
57Lethargy (HP:0001254)2.03555471
58Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.03483427
59Brushfield spots (HP:0001088)2.02174878
60Gonadotropin excess (HP:0000837)2.01904415
61Poor suck (HP:0002033)2.00001448
62CNS demyelination (HP:0007305)1.98855705
63Redundant skin (HP:0001582)1.98499056
64Abnormality of glycolysis (HP:0004366)1.97562568
65Prominent metopic ridge (HP:0005487)1.94241547
66Hepatosplenomegaly (HP:0001433)1.94123003
67Abnormal protein N-linked glycosylation (HP:0012347)1.93286804
68Abnormal protein glycosylation (HP:0012346)1.93286804
69Abnormal glycosylation (HP:0012345)1.93286804
70Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.93286804
71X-linked dominant inheritance (HP:0001423)1.90574883
72Abnormality of lateral ventricle (HP:0030047)1.90300185
73Hypoproteinemia (HP:0003075)1.89247197
74Abnormality of dicarboxylic acid metabolism (HP:0010995)1.88127439
75Dicarboxylic aciduria (HP:0003215)1.88127439
76Congenital, generalized hypertrichosis (HP:0004540)1.86895230
77Poor head control (HP:0002421)1.86544180
78Volvulus (HP:0002580)1.85966323
79Rhabdomyolysis (HP:0003201)1.83905436
80Type I transferrin isoform profile (HP:0003642)1.83142197
81Stomatitis (HP:0010280)1.83004826
82Lissencephaly (HP:0001339)1.82505028
83Pancreatic fibrosis (HP:0100732)1.82093198
84Medial flaring of the eyebrow (HP:0010747)1.80463239
85Dyschromatopsia (HP:0007641)1.77850031
86Abnormality of purine metabolism (HP:0004352)1.77449302
87Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.77211699
88Abnormality of the metopic suture (HP:0005556)1.75105271
89Increased muscle lipid content (HP:0009058)1.73032926
90Abnormality of renal resorption (HP:0011038)1.72734672
91Abnormal respiratory motile cilium morphology (HP:0005938)1.71029653
92Abnormal respiratory epithelium morphology (HP:0012253)1.71029653
93Limb dystonia (HP:0002451)1.69899787
94Oral leukoplakia (HP:0002745)1.68509697
95Inability to walk (HP:0002540)1.67011170
96Pelvic girdle muscle weakness (HP:0003749)1.66851147
97Central scotoma (HP:0000603)1.66766615
98Primary adrenal insufficiency (HP:0008207)1.66582200
99Abolished electroretinogram (ERG) (HP:0000550)1.65510162
100Postaxial foot polydactyly (HP:0001830)1.65273207

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K25.67316036
2RIPK43.02763829
3TSSK63.00945641
4BCKDK2.72190662
5MST42.54502871
6NEK12.50753717
7EIF2AK32.44294722
8PIM22.37680306
9PHKG12.25382704
10PHKG22.25382704
11TLK12.23146271
12VRK22.18721905
13WNK31.91749807
14KIT1.87876253
15TEC1.85048384
16EIF2AK11.84382964
17NUAK11.70020804
18PDK21.58576565
19PBK1.57771663
20TAOK31.56413580
21PLK21.45989100
22PIK3CG1.41358683
23BCR1.34866625
24NME21.33834501
25MAP3K121.31560466
26ADRBK21.22987306
27ITK1.20920286
28SYK1.19380646
29MAPK131.18193027
30BUB11.16001464
31DYRK21.15569965
32TNIK1.15535548
33MARK11.13903825
34IKBKB1.13790079
35MKNK11.12830601
36NEK91.10815170
37EIF2AK21.10217943
38CSNK1G31.08244376
39VRK11.06042932
40OXSR11.06013593
41ALK1.04969889
42CSNK1A1L1.02437203
43BMPR1B1.00219195
44GRK60.99922196
45MAPKAPK50.98176254
46TXK0.98079858
47CCNB10.91147452
48INSRR0.91134173
49MAPKAPK30.89911908
50JAK30.85219219
51BMPR20.82578585
52GRK10.82455436
53ARAF0.81523545
54ZAK0.78925055
55DAPK10.74877916
56TAF10.72093275
57CSNK1G20.71966573
58PLK30.71369339
59PRKCI0.71242470
60TAOK20.68863501
61TIE10.68765507
62MAP2K60.68151269
63RPS6KA50.66648840
64IKBKE0.62609762
65MAP3K40.62241486
66TRIM280.62033451
67SCYL20.61588468
68KDR0.60523094
69ABL20.57028932
70BTK0.57010759
71CSNK1G10.52541741
72CDK190.52503438
73MAP2K70.51647147
74TBK10.51617994
75MYLK0.51325943
76AKT30.50672791
77PRKCE0.50101907
78MAP3K30.49914246
79TGFBR10.49712873
80PASK0.48544133
81TYK20.48542840
82MAP3K110.47848359
83OBSCN0.47685096
84PRKCQ0.46672871
85MAPK150.45999593
86MAP2K30.45993737
87PRKCG0.44002206
88STK160.43767897
89STK390.43521690
90GRK50.41380309
91CASK0.40597692
92LYN0.40439352
93MAPK40.39419833
94ABL10.38342401
95CAMK2A0.38204162
96IGF1R0.37914661
97PAK30.37782114
98FES0.34736254
99LCK0.33709481
100FRK0.30929182

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.26215056
2Oxidative phosphorylation_Homo sapiens_hsa001904.19218620
3Parkinsons disease_Homo sapiens_hsa050123.70938470
4Protein export_Homo sapiens_hsa030602.99317621
5Alzheimers disease_Homo sapiens_hsa050102.40166330
6Huntingtons disease_Homo sapiens_hsa050162.37883836
7Sulfur relay system_Homo sapiens_hsa041222.17915007
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.99090548
9Asthma_Homo sapiens_hsa053101.93778147
10One carbon pool by folate_Homo sapiens_hsa006701.93611931
11Intestinal immune network for IgA production_Homo sapiens_hsa046721.89693267
12RNA degradation_Homo sapiens_hsa030181.85680215
13Sulfur metabolism_Homo sapiens_hsa009201.85629991
14Nucleotide excision repair_Homo sapiens_hsa034201.76660223
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.76163231
16Ribosome_Homo sapiens_hsa030101.73889897
17RNA polymerase_Homo sapiens_hsa030201.67448294
18Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.63945796
19Non-homologous end-joining_Homo sapiens_hsa034501.60379431
20Autoimmune thyroid disease_Homo sapiens_hsa053201.52192878
21Allograft rejection_Homo sapiens_hsa053301.50667753
22Primary immunodeficiency_Homo sapiens_hsa053401.45076034
23DNA replication_Homo sapiens_hsa030301.42407009
24Fatty acid elongation_Homo sapiens_hsa000621.41982752
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.40913301
26Homologous recombination_Homo sapiens_hsa034401.40597327
27Pyrimidine metabolism_Homo sapiens_hsa002401.40326412
28Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.38214424
29SNARE interactions in vesicular transport_Homo sapiens_hsa041301.37786230
30Type I diabetes mellitus_Homo sapiens_hsa049401.36066268
31Purine metabolism_Homo sapiens_hsa002301.35817258
32Peroxisome_Homo sapiens_hsa041461.33128906
33Folate biosynthesis_Homo sapiens_hsa007901.32988229
34Cardiac muscle contraction_Homo sapiens_hsa042601.31569160
35Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.29972665
36Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.23957689
37Mismatch repair_Homo sapiens_hsa034301.22625243
38Graft-versus-host disease_Homo sapiens_hsa053321.20667975
39Rheumatoid arthritis_Homo sapiens_hsa053231.11402085
40Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.10040711
41Basal transcription factors_Homo sapiens_hsa030221.07507078
42Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.03333786
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.98755731
44Caffeine metabolism_Homo sapiens_hsa002320.98435309
45Spliceosome_Homo sapiens_hsa030400.97547459
46Renin-angiotensin system_Homo sapiens_hsa046140.96994684
47Phototransduction_Homo sapiens_hsa047440.92613213
48Base excision repair_Homo sapiens_hsa034100.91296049
49Antigen processing and presentation_Homo sapiens_hsa046120.90829881
50Regulation of autophagy_Homo sapiens_hsa041400.88901928
51Viral myocarditis_Homo sapiens_hsa054160.88500740
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.88205278
53Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.86689742
54alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.85624931
55Linoleic acid metabolism_Homo sapiens_hsa005910.84940959
56RNA transport_Homo sapiens_hsa030130.83770794
57Propanoate metabolism_Homo sapiens_hsa006400.78756248
58Tryptophan metabolism_Homo sapiens_hsa003800.76253091
59Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.73813215
60Steroid biosynthesis_Homo sapiens_hsa001000.72782671
61Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.70658319
62Collecting duct acid secretion_Homo sapiens_hsa049660.70255676
63Metabolic pathways_Homo sapiens_hsa011000.69310097
64Glutathione metabolism_Homo sapiens_hsa004800.68011237
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67814492
66N-Glycan biosynthesis_Homo sapiens_hsa005100.66565313
67Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65270620
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.64573361
69Hematopoietic cell lineage_Homo sapiens_hsa046400.61465417
70Systemic lupus erythematosus_Homo sapiens_hsa053220.58522270
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.56183445
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.55974707
73Ether lipid metabolism_Homo sapiens_hsa005650.55527957
74Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.54802776
752-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.54273606
76Chemical carcinogenesis_Homo sapiens_hsa052040.51969597
77Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.50785983
78Drug metabolism - other enzymes_Homo sapiens_hsa009830.48719573
79Shigellosis_Homo sapiens_hsa051310.45243502
80Fanconi anemia pathway_Homo sapiens_hsa034600.43555064
81Nicotine addiction_Homo sapiens_hsa050330.43104396
82NF-kappa B signaling pathway_Homo sapiens_hsa040640.41930513
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.41640743
84Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.40149946
85Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.39431131
86Phagosome_Homo sapiens_hsa041450.39187033
87Cysteine and methionine metabolism_Homo sapiens_hsa002700.37789629
88Epstein-Barr virus infection_Homo sapiens_hsa051690.34203070
89Morphine addiction_Homo sapiens_hsa050320.32502551
90Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31458943
91Retinol metabolism_Homo sapiens_hsa008300.31326953
92Legionellosis_Homo sapiens_hsa051340.31289523
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.30012785
94Nitrogen metabolism_Homo sapiens_hsa009100.29092944
95Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.28511621
96Arachidonic acid metabolism_Homo sapiens_hsa005900.27464976
97Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.27042443
98Fat digestion and absorption_Homo sapiens_hsa049750.25159511
99Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.24228918
100Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23220188

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