C19orf53

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
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.49356362
2viral transcription (GO:0019083)6.86988326
3ATP synthesis coupled proton transport (GO:0015986)6.83263531
4energy coupled proton transport, down electrochemical gradient (GO:0015985)6.83263531
5ribosomal small subunit biogenesis (GO:0042274)6.73343349
6ribosomal small subunit assembly (GO:0000028)6.66225008
7translational termination (GO:0006415)6.58749505
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)6.15988576
9cotranslational protein targeting to membrane (GO:0006613)6.06968827
10establishment of protein localization to mitochondrial membrane (GO:0090151)6.05553313
11protein targeting to ER (GO:0045047)6.04496964
12chaperone-mediated protein transport (GO:0072321)6.03148971
13mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.89325414
14maturation of SSU-rRNA (GO:0030490)5.83146517
15translational elongation (GO:0006414)5.80858113
16establishment of protein localization to endoplasmic reticulum (GO:0072599)5.76705200
17protein localization to endoplasmic reticulum (GO:0070972)5.73108182
18respiratory electron transport chain (GO:0022904)5.71602475
19electron transport chain (GO:0022900)5.61498573
20viral life cycle (GO:0019058)5.17429279
21cellular protein complex disassembly (GO:0043624)5.04635861
22nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.99727739
23translational initiation (GO:0006413)4.99460065
24protein complex biogenesis (GO:0070271)4.92672699
25proteasome assembly (GO:0043248)4.85499025
26translation (GO:0006412)4.76146344
27ribosomal large subunit biogenesis (GO:0042273)4.72784939
28termination of RNA polymerase III transcription (GO:0006386)4.65196090
29transcription elongation from RNA polymerase III promoter (GO:0006385)4.65196090
30mitochondrial respiratory chain complex assembly (GO:0033108)4.63465562
31protein neddylation (GO:0045116)4.58403595
32mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.53008814
33mitochondrial respiratory chain complex I assembly (GO:0032981)4.53008814
34NADH dehydrogenase complex assembly (GO:0010257)4.53008814
35regulation of mitochondrial translation (GO:0070129)4.50210909
36negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.43338992
37protein targeting to mitochondrion (GO:0006626)4.31169442
38rRNA modification (GO:0000154)4.31155801
39protein complex disassembly (GO:0043241)4.29098371
40protein targeting to membrane (GO:0006612)4.15371112
41negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.10167707
42negative regulation of ligase activity (GO:0051352)4.10167707
43establishment of protein localization to mitochondrion (GO:0072655)4.09846538
44positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.08904321
45macromolecular complex disassembly (GO:0032984)4.07904974
46regulation of cellular amino acid metabolic process (GO:0006521)4.02593740
47cellular component biogenesis (GO:0044085)4.01444144
48ribonucleoprotein complex biogenesis (GO:0022613)3.98396818
49regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.97265639
50DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.94283903
51GTP biosynthetic process (GO:0006183)3.92872312
52purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.86810805
53purine nucleoside triphosphate biosynthetic process (GO:0009145)3.86708241
54protein localization to mitochondrion (GO:0070585)3.86660195
55ATP biosynthetic process (GO:0006754)3.84896645
56anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.83573112
57intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.82561732
58signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.82561732
59inner mitochondrial membrane organization (GO:0007007)3.81572703
60signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.81511694
61signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.81511694
62signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.81511694
63signal transduction involved in DNA integrity checkpoint (GO:0072401)3.71400026
64signal transduction involved in DNA damage checkpoint (GO:0072422)3.71400026
65respiratory chain complex IV assembly (GO:0008535)3.70120749
66hydrogen ion transmembrane transport (GO:1902600)3.69350419
67nuclear-transcribed mRNA catabolic process (GO:0000956)3.69329950
68pseudouridine synthesis (GO:0001522)3.68344383
69signal transduction involved in cell cycle checkpoint (GO:0072395)3.65364764
70rRNA processing (GO:0006364)3.64657169
71cytochrome complex assembly (GO:0017004)3.63081014
72nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.58753759
73positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.58181777
74UTP biosynthetic process (GO:0006228)3.57133922
75ribonucleoside triphosphate biosynthetic process (GO:0009201)3.53347787
76spliceosomal snRNP assembly (GO:0000387)3.52808312
77mRNA catabolic process (GO:0006402)3.50221840
78rRNA metabolic process (GO:0016072)3.49586565
79exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.46461057
80tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.46257457
81RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.46257457
82oxidative phosphorylation (GO:0006119)3.45798354
83positive regulation of ligase activity (GO:0051351)3.44035063
84deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.40141728
85DNA deamination (GO:0045006)3.37503954
86guanosine-containing compound biosynthetic process (GO:1901070)3.36145900
87base-excision repair, AP site formation (GO:0006285)3.35868624
88pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.31456197
89peptidyl-histidine modification (GO:0018202)3.30737258
90mitochondrial transport (GO:0006839)3.30581777
91proton transport (GO:0015992)3.24895230
92rRNA methylation (GO:0031167)3.24022985
93RNA catabolic process (GO:0006401)3.22128027
94nucleoside triphosphate biosynthetic process (GO:0009142)3.20550421
95antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.17970358
96establishment of integrated proviral latency (GO:0075713)3.17760206
97hydrogen transport (GO:0006818)3.16496985
98regulation of ubiquitin-protein transferase activity (GO:0051438)3.16248259
99UTP metabolic process (GO:0046051)3.16121111
100intracellular protein transmembrane import (GO:0044743)3.15709126

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.79033933
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.71017348
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.24323484
4JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.23501569
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.89137930
6* ETS1_20019798_ChIP-Seq_JURKAT_Human3.79382406
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.51607423
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.44736809
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.41748192
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.40130415
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.34433994
12TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.16325694
13MYC_18358816_ChIP-ChIP_MESCs_Mouse3.11033070
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.04559122
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.01602996
16* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.87433132
17* XRN2_22483619_ChIP-Seq_HELA_Human2.71012156
18THAP11_20581084_ChIP-Seq_MESCs_Mouse2.69930989
19ELF1_17652178_ChIP-ChIP_JURKAT_Human2.63801842
20MYC_19030024_ChIP-ChIP_MESCs_Mouse2.60459115
21MYC_19079543_ChIP-ChIP_MESCs_Mouse2.52231754
22PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.47515224
23* VDR_23849224_ChIP-Seq_CD4+_Human2.41459834
24* FOXP3_21729870_ChIP-Seq_TREG_Human2.32420681
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.31564943
26YY1_21170310_ChIP-Seq_MESCs_Mouse2.31347366
27* DCP1A_22483619_ChIP-Seq_HELA_Human2.23965010
28TTF2_22483619_ChIP-Seq_HELA_Human2.23278674
29GABP_19822575_ChIP-Seq_HepG2_Human2.19432875
30E2F1_18555785_ChIP-Seq_MESCs_Mouse2.17675093
31CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.13367942
32ELK1_19687146_ChIP-ChIP_HELA_Human2.02173404
33FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.98924540
34ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.90102690
35NELFA_20434984_ChIP-Seq_ESCs_Mouse1.85492130
36E2F4_17652178_ChIP-ChIP_JURKAT_Human1.79056302
37CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.64415406
38CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.57252855
39FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.53600009
40TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.52251471
41HOXB4_20404135_ChIP-ChIP_EML_Mouse1.50639649
42E2F7_22180533_ChIP-Seq_HELA_Human1.48861498
43CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.45980173
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.45924884
45NANOG_18555785_ChIP-Seq_MESCs_Mouse1.43257795
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.42452202
47* MYC_18940864_ChIP-ChIP_HL60_Human1.41707309
48SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.41030767
49POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.40372251
50MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.40065706
51ELK1_22589737_ChIP-Seq_MCF10A_Human1.38077300
52CTCF_18555785_ChIP-Seq_MESCs_Mouse1.36804866
53BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.34196246
54MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.34140901
55YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33974653
56POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.30240103
57KDM5A_27292631_Chip-Seq_BREAST_Human1.28540039
58SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.28056201
59SRY_22984422_ChIP-ChIP_TESTIS_Rat1.17788355
60FOXP1_21924763_ChIP-Seq_HESCs_Human1.17419889
61KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.16993469
62DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.15848889
63PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.15235382
64MYCN_18555785_ChIP-Seq_MESCs_Mouse1.14993856
65ZFX_18555785_ChIP-Seq_MESCs_Mouse1.11957833
66ZNF263_19887448_ChIP-Seq_K562_Human1.10708696
67PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.09941950
68PADI4_21655091_ChIP-ChIP_MCF-7_Human1.09276294
69TET1_21451524_ChIP-Seq_MESCs_Mouse1.08831068
70TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08390303
71ERG_20887958_ChIP-Seq_HPC-7_Mouse1.07134267
72ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.06208809
73HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.98843237
74CIITA_25753668_ChIP-Seq_RAJI_Human0.98588120
75ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98022771
76DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.97624011
77SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.96659281
78SOX2_18555785_ChIP-Seq_MESCs_Mouse0.95893643
79E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.92341374
80SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.92044116
81EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.91636911
82CTCF_26484167_Chip-Seq_Bcells_Mouse0.89379241
83YY1_22570637_ChIP-Seq_MALME-3M_Human0.89114152
84CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88969797
85FOXM1_23109430_ChIP-Seq_U2OS_Human0.88370098
86ELF1_20517297_ChIP-Seq_JURKAT_Human0.86223068
87OCT4_18692474_ChIP-Seq_MEFs_Mouse0.84933615
88SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.84086852
89RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.83950107
90CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83882359
91* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83633968
92SOX2_18692474_ChIP-Seq_MEFs_Mouse0.80257355
93HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.79964576
94SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.79905257
95CTCF_20526341_ChIP-Seq_ESCs_Human0.79871027
96NOTCH1_21737748_ChIP-Seq_TLL_Human0.78590418
97CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.78020707
98TBX5_21415370_ChIP-Seq_HL-1_Mouse0.77071031
99BCL6_27268052_Chip-Seq_Bcells_Human0.76889038
100ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.76710560

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation6.36827016
2MP0006292_abnormal_olfactory_placode3.58797155
3MP0003186_abnormal_redox_activity3.35857347
4MP0010030_abnormal_orbit_morphology3.32604781
5MP0003806_abnormal_nucleotide_metabolis3.18357142
6MP0008058_abnormal_DNA_repair3.06868338
7MP0003693_abnormal_embryo_hatching2.96722303
8MP0006036_abnormal_mitochondrial_physio2.80714907
9MP0004957_abnormal_blastocyst_morpholog2.71869717
10MP0006035_abnormal_mitochondrial_morpho2.37774353
11MP0003786_premature_aging2.35961243
12MP0003011_delayed_dark_adaptation2.32009590
13MP0002163_abnormal_gland_morphology2.27020835
14MP0000372_irregular_coat_pigmentation2.17428429
15MP0008932_abnormal_embryonic_tissue2.02187263
16MP0003718_maternal_effect1.97186720
17MP0003111_abnormal_nucleus_morphology1.90966159
18MP0002277_abnormal_respiratory_mucosa1.89438805
19MP0005084_abnormal_gallbladder_morpholo1.87766334
20MP0002938_white_spotting1.86581765
21MP0008789_abnormal_olfactory_epithelium1.86189844
22MP0003077_abnormal_cell_cycle1.84999021
23MP0001905_abnormal_dopamine_level1.82824621
24MP0003136_yellow_coat_color1.76439494
25MP0002736_abnormal_nociception_after1.74299713
26MP0010094_abnormal_chromosome_stability1.73690006
27MP0009333_abnormal_splenocyte_physiolog1.72719724
28MP0001529_abnormal_vocalization1.64288145
29MP0008007_abnormal_cellular_replicative1.55403901
30MP0001293_anophthalmia1.50785689
31MP0002837_dystrophic_cardiac_calcinosis1.43982873
32MP0000049_abnormal_middle_ear1.41859098
33MP0003123_paternal_imprinting1.41093796
34MP0006072_abnormal_retinal_apoptosis1.40588499
35MP0002653_abnormal_ependyma_morphology1.38984097
36MP0000358_abnormal_cell_content/1.36697494
37MP0001919_abnormal_reproductive_system1.30918620
38MP0005389_reproductive_system_phenotype1.24441889
39MP0002234_abnormal_pharynx_morphology1.24179193
40MP0005379_endocrine/exocrine_gland_phen1.23831358
41MP0008995_early_reproductive_senescence1.21730372
42MP0002160_abnormal_reproductive_system1.20224770
43MP0004142_abnormal_muscle_tone1.19283268
44MP0008875_abnormal_xenobiotic_pharmacok1.17996030
45MP0001968_abnormal_touch/_nociception1.16897064
46MP0001764_abnormal_homeostasis1.14605306
47MP0002210_abnormal_sex_determination1.14380210
48MP0001346_abnormal_lacrimal_gland1.12296845
49MP0000750_abnormal_muscle_regeneration1.09578771
50MP0005394_taste/olfaction_phenotype1.09129987
51MP0005499_abnormal_olfactory_system1.09129987
52MP0001986_abnormal_taste_sensitivity1.09065483
53MP0002095_abnormal_skin_pigmentation1.07059127
54MP0005075_abnormal_melanosome_morpholog1.04733248
55MP0005408_hypopigmentation1.02077997
56MP0001485_abnormal_pinna_reflex1.01337506
57MP0002102_abnormal_ear_morphology0.95264537
58MP0001881_abnormal_mammary_gland0.95026527
59MP0003938_abnormal_ear_development0.92466327
60MP0000631_abnormal_neuroendocrine_gland0.90431071
61MP0005332_abnormal_amino_acid0.89607899
62MP0003878_abnormal_ear_physiology0.89217258
63MP0005377_hearing/vestibular/ear_phenot0.89217258
64MP0004019_abnormal_vitamin_homeostasis0.87968475
65MP0008872_abnormal_physiological_respon0.87276802
66MP0001542_abnormal_bone_strength0.86635942
67MP0003315_abnormal_perineum_morphology0.85635843
68MP0005410_abnormal_fertilization0.84917165
69MP0004133_heterotaxia0.84508653
70MP0001853_heart_inflammation0.84099877
71MP0009250_abnormal_appendicular_skeleto0.83205964
72MP0003646_muscle_fatigue0.80360189
73MP0001145_abnormal_male_reproductive0.78825071
74MP0001188_hyperpigmentation0.78290074
75MP0000653_abnormal_sex_gland0.78048083
76MP0001929_abnormal_gametogenesis0.77473602
77MP0000313_abnormal_cell_death0.76079791
78MP0005551_abnormal_eye_electrophysiolog0.72060884
79MP0005646_abnormal_pituitary_gland0.72005989
80MP0005636_abnormal_mineral_homeostasis0.71421627
81MP0005645_abnormal_hypothalamus_physiol0.69604998
82MP0002282_abnormal_trachea_morphology0.68867043
83MP0002254_reproductive_system_inflammat0.68545010
84MP0005423_abnormal_somatic_nervous0.68369256
85MP0000749_muscle_degeneration0.67898146
86MP0005671_abnormal_response_to0.66883765
87MP0005174_abnormal_tail_pigmentation0.66467324
88MP0001119_abnormal_female_reproductive0.65723726
89MP0000026_abnormal_inner_ear0.64265244
90MP0002148_abnormal_hypersensitivity_rea0.63328967
91MP0000350_abnormal_cell_proliferation0.62768009
92MP0005171_absent_coat_pigmentation0.60902428
93MP0004145_abnormal_muscle_electrophysio0.60273071
94MP0002876_abnormal_thyroid_physiology0.59686799
95MP0004885_abnormal_endolymph0.59508661
96MP0005083_abnormal_biliary_tract0.57227971
97MP0005670_abnormal_white_adipose0.56517456
98MP0005253_abnormal_eye_physiology0.56063235
99MP0004742_abnormal_vestibular_system0.55288036
100MP0001944_abnormal_pancreas_morphology0.55073901

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)6.61853273
2Abnormal mitochondria in muscle tissue (HP:0008316)6.19626236
3Mitochondrial inheritance (HP:0001427)6.03427121
4Acute encephalopathy (HP:0006846)5.65446990
5Progressive macrocephaly (HP:0004481)5.37564089
6Increased CSF lactate (HP:0002490)5.32078901
7Increased hepatocellular lipid droplets (HP:0006565)5.29990727
8Hepatocellular necrosis (HP:0001404)5.20020347
9Abnormality of cells of the erythroid lineage (HP:0012130)5.03796972
10Abnormal number of erythroid precursors (HP:0012131)4.92518814
11Reticulocytopenia (HP:0001896)4.89938558
12Renal Fanconi syndrome (HP:0001994)4.72472573
13Lipid accumulation in hepatocytes (HP:0006561)4.71497838
14Hepatic necrosis (HP:0002605)4.63744494
15Increased intramyocellular lipid droplets (HP:0012240)4.42930548
16Decreased activity of mitochondrial respiratory chain (HP:0008972)4.30499199
17Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.30499199
18Cerebral edema (HP:0002181)4.15193669
19Macrocytic anemia (HP:0001972)4.04277782
20Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.01640442
21Increased muscle lipid content (HP:0009058)3.71517226
22Exercise intolerance (HP:0003546)3.54121479
23Exertional dyspnea (HP:0002875)3.51984165
24Lactic acidosis (HP:0003128)3.48909228
253-Methylglutaconic aciduria (HP:0003535)3.46313301
26Increased serum lactate (HP:0002151)3.45716512
27Respiratory failure (HP:0002878)3.36067174
28Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.26904118
29Respiratory difficulties (HP:0002880)3.13084023
30Aplasia/Hypoplasia of the sacrum (HP:0008517)3.07512235
31Optic disc pallor (HP:0000543)2.99184690
32Aplastic anemia (HP:0001915)2.87190171
33Type I transferrin isoform profile (HP:0003642)2.85777022
34Leukodystrophy (HP:0002415)2.85215182
35Pallor (HP:0000980)2.79318070
36Abnormality of renal resorption (HP:0011038)2.69846598
37Absent thumb (HP:0009777)2.59426240
38Lethargy (HP:0001254)2.53196226
39Pancytopenia (HP:0001876)2.39620922
40Oral leukoplakia (HP:0002745)2.38770217
41Testicular atrophy (HP:0000029)2.36713167
42Methylmalonic aciduria (HP:0012120)2.29821035
43Abnormal glycosylation (HP:0012345)2.24150993
44Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.24150993
45Abnormal protein N-linked glycosylation (HP:0012347)2.24150993
46Abnormal protein glycosylation (HP:0012346)2.24150993
47Microvesicular hepatic steatosis (HP:0001414)2.18031735
48Glycosuria (HP:0003076)2.17965108
49Abnormality of urine glucose concentration (HP:0011016)2.17965108
50Hyperphosphaturia (HP:0003109)2.17807751
51CNS demyelination (HP:0007305)2.16976056
52Emotional lability (HP:0000712)2.16577906
53X-linked dominant inheritance (HP:0001423)2.14679300
54Rough bone trabeculation (HP:0100670)2.12735089
55Cerebral hypomyelination (HP:0006808)2.10671443
56Congenital, generalized hypertrichosis (HP:0004540)2.10459369
57Increased serum pyruvate (HP:0003542)2.06877570
58Cleft eyelid (HP:0000625)2.06318912
59Molar tooth sign on MRI (HP:0002419)2.05133922
60Abnormality of midbrain morphology (HP:0002418)2.05133922
61Sparse eyelashes (HP:0000653)2.01251736
62Abnormality of placental membranes (HP:0011409)2.00417502
63Amniotic constriction ring (HP:0009775)2.00417502
64Muscle fiber atrophy (HP:0100295)1.99678148
65Aplasia/hypoplasia of the uterus (HP:0008684)1.98420137
66Generalized aminoaciduria (HP:0002909)1.97569555
67Methylmalonic acidemia (HP:0002912)1.96413016
68Microretrognathia (HP:0000308)1.95905850
69Reduced antithrombin III activity (HP:0001976)1.95607168
70Colon cancer (HP:0003003)1.88228322
71Abnormality of the anterior horn cell (HP:0006802)1.87875540
72Degeneration of anterior horn cells (HP:0002398)1.87875540
73Type 2 muscle fiber atrophy (HP:0003554)1.86176008
74Abnormality of glycolysis (HP:0004366)1.83539917
75Blindness (HP:0000618)1.83468218
76Dicarboxylic aciduria (HP:0003215)1.80857796
77Abnormality of dicarboxylic acid metabolism (HP:0010995)1.80857796
78Hypoplasia of the pons (HP:0012110)1.80485661
79Sclerocornea (HP:0000647)1.80302332
80Rib fusion (HP:0000902)1.79844836
81Pancreatic cysts (HP:0001737)1.76964249
82Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.76435982
83Abnormality of the pons (HP:0007361)1.74898634
84Pancreatic fibrosis (HP:0100732)1.70938988
85Horseshoe kidney (HP:0000085)1.67099546
86Patent foramen ovale (HP:0001655)1.65415156
87Myokymia (HP:0002411)1.64167632
88Abnormal urine phosphate concentration (HP:0012599)1.62836662
89Abnormal trabecular bone morphology (HP:0100671)1.62420544
90Multiple enchondromatosis (HP:0005701)1.60371351
91Progressive microcephaly (HP:0000253)1.58974283
92Renal tubular dysfunction (HP:0000124)1.58498976
93Poor suck (HP:0002033)1.57806272
94Cellular immunodeficiency (HP:0005374)1.56739834
95Opisthotonus (HP:0002179)1.55267046
96True hermaphroditism (HP:0010459)1.53937145
97Abnormality of magnesium homeostasis (HP:0004921)1.52266934
98Vomiting (HP:0002013)1.49232943
99Death in infancy (HP:0001522)1.48358458
100Abnormality of aromatic amino acid family metabolism (HP:0004338)1.48037629

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK26.50826711
2NME24.39380727
3BUB14.26925305
4STK163.97680893
5VRK12.65157135
6NME12.52739904
7BCKDK2.52561125
8TESK22.27894066
9CDC72.17177949
10ZAK2.17124263
11TLK12.07783723
12NUAK11.91751478
13SRPK11.86100493
14TESK11.85696737
15KDR1.81470343
16PBK1.75493583
17EIF2AK11.74745603
18LIMK11.73338951
19MAP3K121.54447534
20NEK11.52025883
21MST41.50949829
22PIM21.49396557
23DYRK21.41031238
24ARAF1.38834086
25ABL21.37883729
26PDK21.36704446
27LRRK21.36701681
28ILK1.27120861
29AURKA1.26845168
30PLK31.25762317
31TAF11.21271181
32BRSK11.18032632
33DAPK31.08287158
34ADRBK21.02556522
35AURKB1.01572442
36MYLK0.98194287
37BRAF0.96706672
38TRIM280.96274155
39MUSK0.95726194
40CDK80.95611578
41PLK10.94225823
42TSSK60.89179113
43PRKCI0.87026029
44MAP3K110.85474006
45TXK0.85125220
46EIF2AK30.84179187
47RPS6KA50.83608167
48PASK0.82763925
49CSNK1G30.81835479
50STK40.80908438
51DAPK10.78392259
52GRK10.78208398
53IRAK30.77386996
54CHEK20.76800441
55CSNK1G10.76501519
56EPHB20.74237356
57CSNK2A20.72180058
58CDK190.71847047
59PAK40.71355570
60CSNK2A10.70462590
61PAK10.70347131
62MAPK150.66716748
63TTK0.62952054
64MAPKAPK30.62650663
65BMPR1B0.60452940
66INSRR0.58590749
67ATR0.56242603
68DYRK30.56158588
69PLK40.56057182
70IKBKB0.55378430
71WEE10.53260790
72EPHA20.51317505
73CDK70.50066561
74WNK30.48741913
75MAP2K70.48468666
76RPS6KB20.47203999
77ADRBK10.46704944
78GRK50.46423914
79CSNK1G20.45707555
80CCNB10.45450297
81SMG10.44549405
82WNK40.43379947
83TAOK20.41415002
84CSNK1A1L0.39843114
85BRSK20.38925756
86MAP2K20.37624086
87AKT20.34413132
88MAP4K20.33171344
89MAP3K80.31218824
90PINK10.30330038
91CAMK2G0.29796393
92EIF2AK20.29043791
93GRK70.28916936
94NEK20.28816683
95CHEK10.28780995
96MARK30.27021509
97PRKCG0.26210234
98CSNK1A10.24155295
99PIM10.24137882
100CSNK1E0.24112012

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.80783303
2Oxidative phosphorylation_Homo sapiens_hsa001904.93715206
3Proteasome_Homo sapiens_hsa030504.75154811
4Parkinsons disease_Homo sapiens_hsa050124.21542916
5RNA polymerase_Homo sapiens_hsa030203.43610786
6Huntingtons disease_Homo sapiens_hsa050163.09417132
7Alzheimers disease_Homo sapiens_hsa050102.84142447
8Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.69602443
9Protein export_Homo sapiens_hsa030602.60489970
10DNA replication_Homo sapiens_hsa030302.49070982
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.35210274
12Mismatch repair_Homo sapiens_hsa034302.19158301
13Pyrimidine metabolism_Homo sapiens_hsa002402.00789897
14Cardiac muscle contraction_Homo sapiens_hsa042602.00199054
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.93030781
16Homologous recombination_Homo sapiens_hsa034401.91186205
17Spliceosome_Homo sapiens_hsa030401.86921433
18Base excision repair_Homo sapiens_hsa034101.81425803
19Sulfur relay system_Homo sapiens_hsa041221.76338593
20Nucleotide excision repair_Homo sapiens_hsa034201.60278965
21Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.45918552
22Folate biosynthesis_Homo sapiens_hsa007901.45813054
23One carbon pool by folate_Homo sapiens_hsa006701.33718029
24RNA transport_Homo sapiens_hsa030131.31899759
25Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.29603195
26Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.27085221
27Purine metabolism_Homo sapiens_hsa002301.25459028
28RNA degradation_Homo sapiens_hsa030181.23591772
29Basal transcription factors_Homo sapiens_hsa030221.17130385
30Glutathione metabolism_Homo sapiens_hsa004801.17088454
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.16872675
32Fanconi anemia pathway_Homo sapiens_hsa034601.12697445
33Fatty acid elongation_Homo sapiens_hsa000621.09459889
34Cysteine and methionine metabolism_Homo sapiens_hsa002700.99189529
35Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.98100928
36Sulfur metabolism_Homo sapiens_hsa009200.95019593
37Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.93630641
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.91900266
39Pyruvate metabolism_Homo sapiens_hsa006200.85639231
40Collecting duct acid secretion_Homo sapiens_hsa049660.85140445
41Metabolic pathways_Homo sapiens_hsa011000.82315595
42Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76246023
432-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.70794409
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.66038151
45Biosynthesis of amino acids_Homo sapiens_hsa012300.65568391
46Peroxisome_Homo sapiens_hsa041460.59179696
47Carbon metabolism_Homo sapiens_hsa012000.57780648
48Propanoate metabolism_Homo sapiens_hsa006400.57541718
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.56602170
50N-Glycan biosynthesis_Homo sapiens_hsa005100.56030271
51Non-homologous end-joining_Homo sapiens_hsa034500.54691864
52Cell cycle_Homo sapiens_hsa041100.53506779
53Primary immunodeficiency_Homo sapiens_hsa053400.52773894
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51120113
55Epstein-Barr virus infection_Homo sapiens_hsa051690.46403378
56Vitamin B6 metabolism_Homo sapiens_hsa007500.45858832
57SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43431657
58Steroid biosynthesis_Homo sapiens_hsa001000.42793407
59Vibrio cholerae infection_Homo sapiens_hsa051100.40654733
60Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38699497
61Drug metabolism - other enzymes_Homo sapiens_hsa009830.37676784
62p53 signaling pathway_Homo sapiens_hsa041150.36338500
63Fructose and mannose metabolism_Homo sapiens_hsa000510.35987837
64Regulation of autophagy_Homo sapiens_hsa041400.35867880
65Phototransduction_Homo sapiens_hsa047440.35836518
66Arginine and proline metabolism_Homo sapiens_hsa003300.34580501
67Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.33983787
68Systemic lupus erythematosus_Homo sapiens_hsa053220.33594363
69Maturity onset diabetes of the young_Homo sapiens_hsa049500.31074020
70Tyrosine metabolism_Homo sapiens_hsa003500.29834062
71Selenocompound metabolism_Homo sapiens_hsa004500.29827878
72Butanoate metabolism_Homo sapiens_hsa006500.28605115
73Chemical carcinogenesis_Homo sapiens_hsa052040.27984828
74Rheumatoid arthritis_Homo sapiens_hsa053230.27066717
75Nitrogen metabolism_Homo sapiens_hsa009100.26765544
76Pentose and glucuronate interconversions_Homo sapiens_hsa000400.26414676
77Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26293095
78Galactose metabolism_Homo sapiens_hsa000520.25939323
79Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.24376936
80mRNA surveillance pathway_Homo sapiens_hsa030150.24306240
81Basal cell carcinoma_Homo sapiens_hsa052170.24147443
82Tryptophan metabolism_Homo sapiens_hsa003800.23875310
83beta-Alanine metabolism_Homo sapiens_hsa004100.20841206
84Phenylalanine metabolism_Homo sapiens_hsa003600.20410204
85Pentose phosphate pathway_Homo sapiens_hsa000300.19033424
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.17874149
87Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.16775805
88Hedgehog signaling pathway_Homo sapiens_hsa043400.16228461
89Vitamin digestion and absorption_Homo sapiens_hsa049770.15339878
90Cyanoamino acid metabolism_Homo sapiens_hsa004600.13954833
91Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.13578311
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.13039446
93Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.10024143
94Synaptic vesicle cycle_Homo sapiens_hsa047210.09110730
95Arachidonic acid metabolism_Homo sapiens_hsa005900.09015283
96Alcoholism_Homo sapiens_hsa050340.08545403
97Mineral absorption_Homo sapiens_hsa049780.07503802
98Antigen processing and presentation_Homo sapiens_hsa046120.07206005
99Primary bile acid biosynthesis_Homo sapiens_hsa001200.06762182
100Caffeine metabolism_Homo sapiens_hsa002320.05228828

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