SYNJ2BP-COX16

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 SYNJ2BP (synaptojanin 2 binding protein) and COX16 (COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)) genes on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. Alternate splicing results in multiple transcript variants that encode different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.90890068
2ATP synthesis coupled proton transport (GO:0015986)5.34673394
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.34673394
4mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.20175859
5protein complex biogenesis (GO:0070271)4.85639214
6proteasome assembly (GO:0043248)4.85355787
7respiratory electron transport chain (GO:0022904)4.59995650
8establishment of protein localization to mitochondrial membrane (GO:0090151)4.56133419
9electron transport chain (GO:0022900)4.54056923
10mitochondrial respiratory chain complex assembly (GO:0033108)4.46345550
11DNA deamination (GO:0045006)4.37893028
12mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.21538178
13mitochondrial respiratory chain complex I assembly (GO:0032981)4.21538178
14NADH dehydrogenase complex assembly (GO:0010257)4.21538178
15protein neddylation (GO:0045116)4.17205578
16respiratory chain complex IV assembly (GO:0008535)4.16404062
17chaperone-mediated protein transport (GO:0072321)4.05473825
18nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.96542451
19cytochrome complex assembly (GO:0017004)3.94650674
20platelet dense granule organization (GO:0060155)3.85063591
21regulation of cellular amino acid metabolic process (GO:0006521)3.82121822
22exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.79713590
23water-soluble vitamin biosynthetic process (GO:0042364)3.69966846
24transcription elongation from RNA polymerase III promoter (GO:0006385)3.65841528
25termination of RNA polymerase III transcription (GO:0006386)3.65841528
26negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.60429465
27cullin deneddylation (GO:0010388)3.56531175
28protein deneddylation (GO:0000338)3.52424017
29hydrogen ion transmembrane transport (GO:1902600)3.43894843
30tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.42624856
31RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.42624856
32DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.39866155
33positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.38257371
34protein-cofactor linkage (GO:0018065)3.38019798
35DNA double-strand break processing (GO:0000729)3.37809709
36signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.33689308
37signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.33689308
38signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.33689308
39sequestering of actin monomers (GO:0042989)3.28801316
40pseudouridine synthesis (GO:0001522)3.28708021
41mannosylation (GO:0097502)3.28444808
42regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.27701715
43intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.27526555
44signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.27526555
45proton transport (GO:0015992)3.24036176
46negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.21933456
47negative regulation of ligase activity (GO:0051352)3.21933456
48L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.21930217
49hydrogen transport (GO:0006818)3.17695940
50signal transduction involved in cell cycle checkpoint (GO:0072395)3.14256988
51regulation of mitochondrial translation (GO:0070129)3.13977884
52signal transduction involved in DNA integrity checkpoint (GO:0072401)3.13770404
53signal transduction involved in DNA damage checkpoint (GO:0072422)3.13770404
54maturation of 5.8S rRNA (GO:0000460)3.07585648
55purine nucleoside triphosphate biosynthetic process (GO:0009145)3.03398450
56ATP biosynthetic process (GO:0006754)3.02446459
57positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.00274535
58purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.96994777
59aldehyde catabolic process (GO:0046185)2.95299032
60anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.92944192
61protein targeting to mitochondrion (GO:0006626)2.90153790
62positive regulation of ligase activity (GO:0051351)2.85801675
63rRNA modification (GO:0000154)2.83976031
64response to pheromone (GO:0019236)2.82498099
65amino acid salvage (GO:0043102)2.80631177
66L-methionine salvage (GO:0071267)2.80631177
67L-methionine biosynthetic process (GO:0071265)2.80631177
68GTP biosynthetic process (GO:0006183)2.79731119
69establishment of protein localization to mitochondrion (GO:0072655)2.79691900
70behavioral response to nicotine (GO:0035095)2.79642311
71DNA catabolic process, exonucleolytic (GO:0000738)2.78048472
72preassembly of GPI anchor in ER membrane (GO:0016254)2.77849175
73inner mitochondrial membrane organization (GO:0007007)2.75561140
74intracellular protein transmembrane import (GO:0044743)2.74810077
75regulation of cellular amine metabolic process (GO:0033238)2.74661113
76protein localization to mitochondrion (GO:0070585)2.73332125
77peptidyl-histidine modification (GO:0018202)2.72070937
78regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.69562319
79GPI anchor metabolic process (GO:0006505)2.68940714
80DNA damage response, detection of DNA damage (GO:0042769)2.67378880
81regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.66465328
82regulation of mitotic spindle checkpoint (GO:1903504)2.66465328
83cellular ketone body metabolic process (GO:0046950)2.65464722
84ribosomal small subunit assembly (GO:0000028)2.62816173
85lactate metabolic process (GO:0006089)2.62307902
86spliceosomal snRNP assembly (GO:0000387)2.60854193
87tryptophan catabolic process (GO:0006569)2.56516204
88indole-containing compound catabolic process (GO:0042436)2.56516204
89indolalkylamine catabolic process (GO:0046218)2.56516204
90GPI anchor biosynthetic process (GO:0006506)2.56450879
91ribonucleoside triphosphate biosynthetic process (GO:0009201)2.55304676
92antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.55132319
93deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.52375978
94regulation of ubiquitin-protein transferase activity (GO:0051438)2.51214333
95nucleoside triphosphate biosynthetic process (GO:0009142)2.51047970
96branched-chain amino acid catabolic process (GO:0009083)2.50350277
97DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.50114118
98signal peptide processing (GO:0006465)2.49697046
99mitochondrial transport (GO:0006839)2.49689223
100ubiquinone biosynthetic process (GO:0006744)2.47789198

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.79299741
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.36901976
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.16049266
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.97167164
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.78916848
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.22729542
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.14349477
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.94872195
9ZNF274_21170338_ChIP-Seq_K562_Hela2.90964985
10ELK1_19687146_ChIP-ChIP_HELA_Human2.64359417
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.64127122
12VDR_23849224_ChIP-Seq_CD4+_Human2.49724511
13IGF1R_20145208_ChIP-Seq_DFB_Human2.43356775
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.34635966
15VDR_22108803_ChIP-Seq_LS180_Human2.32433466
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.26715972
17CREB1_15753290_ChIP-ChIP_HEK293T_Human2.12470572
18HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.12359271
19SRF_21415370_ChIP-Seq_HL-1_Mouse2.09648771
20FOXP3_21729870_ChIP-Seq_TREG_Human2.02395029
21FLI1_27457419_Chip-Seq_LIVER_Mouse1.94047971
22FUS_26573619_Chip-Seq_HEK293_Human1.89659850
23PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.87211504
24MYC_18940864_ChIP-ChIP_HL60_Human1.85329969
25EWS_26573619_Chip-Seq_HEK293_Human1.79216038
26ZFP57_27257070_Chip-Seq_ESCs_Mouse1.74993766
27POU3F2_20337985_ChIP-ChIP_501MEL_Human1.72943239
28ELF1_17652178_ChIP-ChIP_JURKAT_Human1.59701635
29GBX2_23144817_ChIP-Seq_PC3_Human1.57937281
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57268330
31P300_19829295_ChIP-Seq_ESCs_Human1.56437498
32MYC_18555785_ChIP-Seq_MESCs_Mouse1.56339020
33PADI4_21655091_ChIP-ChIP_MCF-7_Human1.54252038
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.54220968
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.50986174
36NOTCH1_21737748_ChIP-Seq_TLL_Human1.50528199
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.49477448
38TAF15_26573619_Chip-Seq_HEK293_Human1.48407270
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.46608258
40DCP1A_22483619_ChIP-Seq_HELA_Human1.45223146
41E2F4_17652178_ChIP-ChIP_JURKAT_Human1.45216115
42TP53_22573176_ChIP-Seq_HFKS_Human1.43298826
43EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.42530277
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.39720884
45CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.38013937
46GABP_19822575_ChIP-Seq_HepG2_Human1.33573009
47ER_23166858_ChIP-Seq_MCF-7_Human1.30556604
48IRF1_19129219_ChIP-ChIP_H3396_Human1.28528790
49MYC_18358816_ChIP-ChIP_MESCs_Mouse1.28392748
50MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.27790056
51CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.26649995
52E2F1_18555785_ChIP-Seq_MESCs_Mouse1.25672431
53GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.25152535
54SOX2_19829295_ChIP-Seq_ESCs_Human1.24937511
55NANOG_19829295_ChIP-Seq_ESCs_Human1.24937511
56TTF2_22483619_ChIP-Seq_HELA_Human1.22597537
57POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.22475442
58ELK1_22589737_ChIP-Seq_MCF10A_Human1.21092880
59CBP_20019798_ChIP-Seq_JUKART_Human1.20484784
60IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.20484784
61HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19934407
62SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.18883736
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18809397
64FOXA1_25329375_ChIP-Seq_VCAP_Human1.16013724
65FOXA1_27270436_Chip-Seq_PROSTATE_Human1.16013724
66AR_20517297_ChIP-Seq_VCAP_Human1.15008417
67MYC_19030024_ChIP-ChIP_MESCs_Mouse1.14467318
68BP1_19119308_ChIP-ChIP_Hs578T_Human1.13680921
69GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12554985
70YY1_21170310_ChIP-Seq_MESCs_Mouse1.11271461
71HTT_18923047_ChIP-ChIP_STHdh_Human1.08718626
72PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.08598770
73POU5F1_16153702_ChIP-ChIP_HESCs_Human1.08554080
74THAP11_20581084_ChIP-Seq_MESCs_Mouse1.06886045
75HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.06118563
76ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.05479794
77KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02840138
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00000320
79NCOR_22424771_ChIP-Seq_293T_Human0.99065204
80FOXA1_21572438_ChIP-Seq_LNCaP_Human0.97657586
81CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.97080435
82BCAT_22108803_ChIP-Seq_LS180_Human0.96261587
83ERG_20517297_ChIP-Seq_VCAP_Human0.94226772
84NFE2_27457419_Chip-Seq_LIVER_Mouse0.93765457
85AUTS2_25519132_ChIP-Seq_293T-REX_Human0.92590898
86RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.91181195
87TCF4_22108803_ChIP-Seq_LS180_Human0.89849069
88PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.89056561
89EGR1_23403033_ChIP-Seq_LIVER_Mouse0.88496916
90SUZ12_27294783_Chip-Seq_NPCs_Mouse0.88172482
91FOXH1_21741376_ChIP-Seq_EPCs_Human0.87144607
92YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.86984751
93ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.86144727
94BMI1_23680149_ChIP-Seq_NPCS_Mouse0.85862968
95EZH2_27294783_Chip-Seq_NPCs_Mouse0.85750170
96FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.85420655
97GATA3_21878914_ChIP-Seq_MCF-7_Human0.84544162
98NANOG_16153702_ChIP-ChIP_HESCs_Human0.84140304
99TOP2B_26459242_ChIP-Seq_MCF-7_Human0.83432721
100HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.82105346

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006072_abnormal_retinal_apoptosis3.47677088
2MP0003806_abnormal_nucleotide_metabolis3.37818649
3MP0002837_dystrophic_cardiac_calcinosis3.22894805
4MP0002102_abnormal_ear_morphology2.95311846
5MP0008877_abnormal_DNA_methylation2.46896264
6MP0001529_abnormal_vocalization2.44641608
7MP0001984_abnormal_olfaction2.40649676
8MP0003195_calcinosis2.39237390
9MP0003011_delayed_dark_adaptation2.30485423
10MP0008058_abnormal_DNA_repair2.29195450
11MP0000372_irregular_coat_pigmentation2.27789138
12MP0005084_abnormal_gallbladder_morpholo2.25098148
13MP0010386_abnormal_urinary_bladder2.18604933
14MP0005253_abnormal_eye_physiology2.12035355
15MP0006036_abnormal_mitochondrial_physio2.04091877
16MP0005646_abnormal_pituitary_gland1.97640665
17MP0003136_yellow_coat_color1.91761980
18MP0008995_early_reproductive_senescence1.87640263
19MP0003880_abnormal_central_pattern1.86106521
20MP0005551_abnormal_eye_electrophysiolog1.80067857
21MP0008875_abnormal_xenobiotic_pharmacok1.77131909
22MP0008789_abnormal_olfactory_epithelium1.75843772
23MP0003186_abnormal_redox_activity1.74344438
24MP0003786_premature_aging1.73088405
25MP0009697_abnormal_copulation1.71572619
26MP0002736_abnormal_nociception_after1.71390514
27MP0003718_maternal_effect1.71021521
28MP0005645_abnormal_hypothalamus_physiol1.69004431
29MP0006292_abnormal_olfactory_placode1.66810731
30MP0002277_abnormal_respiratory_mucosa1.63252128
31MP0005410_abnormal_fertilization1.62678926
32MP0002638_abnormal_pupillary_reflex1.60611731
33MP0004147_increased_porphyrin_level1.60192062
34MP0001764_abnormal_homeostasis1.59032951
35MP0001968_abnormal_touch/_nociception1.52747560
36MP0006035_abnormal_mitochondrial_morpho1.52442229
37MP0008872_abnormal_physiological_respon1.50216630
38MP0004142_abnormal_muscle_tone1.48737267
39MP0002138_abnormal_hepatobiliary_system1.47679495
40MP0002163_abnormal_gland_morphology1.47053525
41MP0002160_abnormal_reproductive_system1.44337185
42MP0005389_reproductive_system_phenotype1.36337454
43MP0001905_abnormal_dopamine_level1.32969817
44MP0005394_taste/olfaction_phenotype1.31174422
45MP0005499_abnormal_olfactory_system1.31174422
46MP0005379_endocrine/exocrine_gland_phen1.27213338
47MP0009046_muscle_twitch1.25882146
48MP0002876_abnormal_thyroid_physiology1.21795533
49MP0001919_abnormal_reproductive_system1.21212128
50MP0004215_abnormal_myocardial_fiber1.20461235
51MP0005075_abnormal_melanosome_morpholog1.20225634
52MP0002938_white_spotting1.17005767
53MP0004145_abnormal_muscle_electrophysio1.16946222
54MP0006276_abnormal_autonomic_nervous1.13761606
55MP0005332_abnormal_amino_acid1.11901579
56MP0002234_abnormal_pharynx_morphology1.09179947
57MP0010094_abnormal_chromosome_stability1.08724899
58MP0002272_abnormal_nervous_system1.07778285
59MP0000631_abnormal_neuroendocrine_gland1.05708513
60MP0003787_abnormal_imprinting1.04181096
61MP0001188_hyperpigmentation1.02669755
62MP0003121_genomic_imprinting1.02410589
63MP0002751_abnormal_autonomic_nervous1.01941945
64MP0003646_muscle_fatigue1.01708044
65MP0001485_abnormal_pinna_reflex1.00015030
66MP0001929_abnormal_gametogenesis0.99749619
67MP0001986_abnormal_taste_sensitivity0.99032234
68MP0000516_abnormal_urinary_system0.97749140
69MP0005367_renal/urinary_system_phenotyp0.97749140
70MP0009745_abnormal_behavioral_response0.94066472
71MP0004133_heterotaxia0.92813355
72MP0002928_abnormal_bile_duct0.91865016
73MP0005085_abnormal_gallbladder_physiolo0.87224783
74MP0000538_abnormal_urinary_bladder0.86996185
75MP0002210_abnormal_sex_determination0.86859923
76MP0003252_abnormal_bile_duct0.85238670
77MP0002693_abnormal_pancreas_physiology0.84512216
78MP0000653_abnormal_sex_gland0.84394165
79MP0001293_anophthalmia0.83366368
80MP0005391_vision/eye_phenotype0.81935124
81MP0003693_abnormal_embryo_hatching0.81449307
82MP0005671_abnormal_response_to0.81147253
83MP0001145_abnormal_male_reproductive0.80335190
84MP0002090_abnormal_vision0.78937050
85MP0003119_abnormal_digestive_system0.78207389
86MP0003698_abnormal_male_reproductive0.76076649
87MP0002282_abnormal_trachea_morphology0.75334577
88MP0003122_maternal_imprinting0.74602320
89MP0001501_abnormal_sleep_pattern0.74197606
90MP0002822_catalepsy0.74053275
91MP0003315_abnormal_perineum_morphology0.73311140
92MP0001756_abnormal_urination0.70509495
93MP0002233_abnormal_nose_morphology0.69706148
94MP0000358_abnormal_cell_content/0.69296384
95MP0004885_abnormal_endolymph0.68064163
96MP0003567_abnormal_fetal_cardiomyocyte0.67794047
97MP0005636_abnormal_mineral_homeostasis0.67105667
98MP0000647_abnormal_sebaceous_gland0.66817021
99MP0002653_abnormal_ependyma_morphology0.66750617
100MP0001486_abnormal_startle_reflex0.66327370

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.18337067
2Mitochondrial inheritance (HP:0001427)4.77793086
3Abnormal mitochondria in muscle tissue (HP:0008316)4.67907989
4Acute encephalopathy (HP:0006846)4.58344670
5Progressive macrocephaly (HP:0004481)4.50224130
6Increased CSF lactate (HP:0002490)4.25752442
7Lipid accumulation in hepatocytes (HP:0006561)4.08733185
8Hepatocellular necrosis (HP:0001404)4.04812636
9Increased hepatocellular lipid droplets (HP:0006565)4.03968734
10Hepatic necrosis (HP:0002605)3.80768642
113-Methylglutaconic aciduria (HP:0003535)3.47408176
12Decreased activity of mitochondrial respiratory chain (HP:0008972)3.45933465
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.45933465
14Renal Fanconi syndrome (HP:0001994)3.44697891
15Cerebral edema (HP:0002181)3.31643216
16Pancreatic cysts (HP:0001737)3.29923760
17Methylmalonic acidemia (HP:0002912)3.11620049
18Congenital, generalized hypertrichosis (HP:0004540)3.03511942
19True hermaphroditism (HP:0010459)3.01147440
20Aplasia/hypoplasia of the uterus (HP:0008684)2.88033932
21Lactic acidosis (HP:0003128)2.84625508
22Pancreatic fibrosis (HP:0100732)2.83028388
23Respiratory failure (HP:0002878)2.81600347
24Increased intramyocellular lipid droplets (HP:0012240)2.81099964
25Increased serum lactate (HP:0002151)2.76994548
26Methylmalonic aciduria (HP:0012120)2.74203583
27Abnormality of midbrain morphology (HP:0002418)2.69143332
28Molar tooth sign on MRI (HP:0002419)2.69143332
29Optic disc pallor (HP:0000543)2.68325637
30Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.55556660
31Type I transferrin isoform profile (HP:0003642)2.50153102
32Congenital stationary night blindness (HP:0007642)2.49966528
33Hypothermia (HP:0002045)2.49705329
34Increased muscle lipid content (HP:0009058)2.49418262
35Glycosuria (HP:0003076)2.46853921
36Abnormality of urine glucose concentration (HP:0011016)2.46853921
37Medial flaring of the eyebrow (HP:0010747)2.46575934
38Exertional dyspnea (HP:0002875)2.46287167
39Lethargy (HP:0001254)2.45817406
40Hyperglycinemia (HP:0002154)2.40240468
41Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.39549480
42Exercise intolerance (HP:0003546)2.35562635
43Aplastic anemia (HP:0001915)2.30564072
44Reduced antithrombin III activity (HP:0001976)2.29167560
45Nephronophthisis (HP:0000090)2.27677726
46Type II lissencephaly (HP:0007260)2.25757467
47Sclerocornea (HP:0000647)2.21778693
48Abnormal protein glycosylation (HP:0012346)2.21209999
49Abnormal glycosylation (HP:0012345)2.21209999
50Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.21209999
51Abnormal protein N-linked glycosylation (HP:0012347)2.21209999
52Leukodystrophy (HP:0002415)2.19885150
53Male pseudohermaphroditism (HP:0000037)2.17028278
54Abnormality of renal resorption (HP:0011038)2.16178953
55Generalized aminoaciduria (HP:0002909)2.13964076
56Hypoplasia of the uterus (HP:0000013)2.06733197
57Abnormality of vitamin B metabolism (HP:0004340)2.04111980
58Retinal dysplasia (HP:0007973)2.03872074
59Large for gestational age (HP:0001520)2.01048903
60CNS demyelination (HP:0007305)2.00923889
61Abolished electroretinogram (ERG) (HP:0000550)1.98851203
62Abnormality of the renal cortex (HP:0011035)1.98244300
63Congenital primary aphakia (HP:0007707)1.96752017
64Abnormality of the labia minora (HP:0012880)1.96596115
65Abnormality of aspartate family amino acid metabolism (HP:0010899)1.96149127
66Ketoacidosis (HP:0001993)1.96146545
67Abnormality of the renal medulla (HP:0100957)1.93195450
68Ketosis (HP:0001946)1.92208309
69Abnormality of dicarboxylic acid metabolism (HP:0010995)1.91621259
70Dicarboxylic aciduria (HP:0003215)1.91621259
71Renal cortical cysts (HP:0000803)1.91224946
72Gait imbalance (HP:0002141)1.91029485
73Hyperphosphaturia (HP:0003109)1.90843258
74Short tibia (HP:0005736)1.86787245
75Abnormality of methionine metabolism (HP:0010901)1.86774869
76Abnormal biliary tract physiology (HP:0012439)1.86631621
77Bile duct proliferation (HP:0001408)1.86631621
78Pancytopenia (HP:0001876)1.85858838
79Abnormal number of erythroid precursors (HP:0012131)1.85335906
80Nephrogenic diabetes insipidus (HP:0009806)1.84661932
81Abnormality of the vitamin B12 metabolism (HP:0004341)1.84345252
82Abnormal rod and cone electroretinograms (HP:0008323)1.84334588
83IgG deficiency (HP:0004315)1.82824372
84Oral leukoplakia (HP:0002745)1.82283408
85Hypoglycemic coma (HP:0001325)1.82052093
86Hyperinsulinemic hypoglycemia (HP:0000825)1.80190569
87Delayed CNS myelination (HP:0002188)1.79663660
88Hypomagnesemia (HP:0002917)1.78995325
89X-linked dominant inheritance (HP:0001423)1.76166759
90Colon cancer (HP:0003003)1.76087067
91Intestinal atresia (HP:0011100)1.75477818
92Abnormality of serum amino acid levels (HP:0003112)1.74784009
93Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.73008741
94Abnormality of serine family amino acid metabolism (HP:0010894)1.71159801
95Abnormality of glycine metabolism (HP:0010895)1.71159801
96Hyperglycinuria (HP:0003108)1.71008741
97Respiratory difficulties (HP:0002880)1.70161831
98Aplasia/Hypoplasia of the tibia (HP:0005772)1.67913017
99Cystic liver disease (HP:0006706)1.67609044
100Attenuation of retinal blood vessels (HP:0007843)1.67109098

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK3.49095510
2PINK13.27038336
3VRK23.16298889
4MAP4K22.62077958
5FRK2.46834558
6BMPR1B2.40996788
7MST42.19541887
8TLK12.17401994
9WNK32.16281961
10VRK12.13034929
11GRK12.11035121
12EIF2AK32.08756995
13NUAK12.02582066
14BCKDK2.00298606
15BUB11.92864932
16SRPK11.87629426
17ADRBK21.75910464
18TRIM281.68407201
19TXK1.64762478
20STK161.60332981
21NME11.59699196
22CSNK1G31.52510147
23MAP3K121.50388376
24TAOK31.49741187
25CSNK1G11.41827697
26INSRR1.38048660
27PLK31.36573838
28TNIK1.33890854
29CSNK1G21.32777637
30MAP2K71.31241126
31CSNK1A1L1.30230405
32KDR1.25782399
33DYRK21.25670300
34PHKG11.23780651
35PHKG21.23780651
36TIE11.21467701
37OBSCN1.20707473
38PBK1.18909200
39MYLK1.15862337
40STK38L1.11487259
41TESK21.11068377
42LIMK11.09618856
43CDK81.07204407
44ERBB31.06268822
45MAP3K40.99478706
46TSSK60.96148932
47NEK10.87455437
48PLK40.86672801
49MAPK130.85685430
50PLK20.85651890
51CDC70.85239504
52MARK30.82350811
53EIF2AK10.82196799
54NME20.81642000
55MKNK20.80154782
56OXSR10.79573280
57BCR0.79097800
58GRK70.78898041
59TGFBR10.77437659
60WEE10.73559504
61DAPK10.72130005
62PLK10.71761188
63RPS6KA50.69388689
64ACVR1B0.68884551
65MKNK10.68806613
66PRKCE0.67635866
67MAPKAPK30.61215406
68WNK40.61132092
69LMTK20.60417923
70EIF2AK20.59762157
71PASK0.58082033
72STK390.57248627
73PDK20.56592570
74FGFR20.56572413
75BRSK20.55497483
76TTK0.53955060
77PRKCG0.53538223
78IKBKB0.53188217
79AURKB0.52852345
80CASK0.52825353
81MUSK0.50951496
82PRKCQ0.49340361
83CSNK2A10.47220325
84CSNK1A10.46543044
85ATR0.45707953
86CSNK2A20.43319949
87NEK20.41611520
88TESK10.41080425
89PAK30.40479199
90ADRBK10.38867195
91GRK50.37659476
92ABL20.37408750
93RPS6KA40.37065309
94PRKACA0.35567165
95MAPK150.35000042
96ATM0.34838357
97DAPK30.34706183
98FLT30.33884883
99TAF10.33613248
100CAMK2A0.32130704

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.17120757
2Oxidative phosphorylation_Homo sapiens_hsa001904.16607255
3Parkinsons disease_Homo sapiens_hsa050123.46417286
4Protein export_Homo sapiens_hsa030603.25049533
5RNA polymerase_Homo sapiens_hsa030202.64390125
6Ribosome_Homo sapiens_hsa030102.32760536
7Alzheimers disease_Homo sapiens_hsa050102.27551160
8Huntingtons disease_Homo sapiens_hsa050162.21397525
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.17060561
10Homologous recombination_Homo sapiens_hsa034401.87327439
11Propanoate metabolism_Homo sapiens_hsa006401.87155723
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.87152101
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.83094204
14Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.79992886
15Mismatch repair_Homo sapiens_hsa034301.78011065
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.72637718
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.59552900
18Maturity onset diabetes of the young_Homo sapiens_hsa049501.58510891
19DNA replication_Homo sapiens_hsa030301.55415817
20Butanoate metabolism_Homo sapiens_hsa006501.54079768
21Cardiac muscle contraction_Homo sapiens_hsa042601.52366268
22Nucleotide excision repair_Homo sapiens_hsa034201.48373428
23RNA degradation_Homo sapiens_hsa030181.44321560
24Fanconi anemia pathway_Homo sapiens_hsa034601.40169175
25Pyrimidine metabolism_Homo sapiens_hsa002401.39569189
26Basal transcription factors_Homo sapiens_hsa030221.38139080
27Phototransduction_Homo sapiens_hsa047441.34204859
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.30760735
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.28746858
30Peroxisome_Homo sapiens_hsa041461.27793324
31Purine metabolism_Homo sapiens_hsa002301.26701962
32Fatty acid elongation_Homo sapiens_hsa000621.23344644
33Caffeine metabolism_Homo sapiens_hsa002321.18780814
34Sulfur metabolism_Homo sapiens_hsa009201.15791601
35Collecting duct acid secretion_Homo sapiens_hsa049661.15352263
36Folate biosynthesis_Homo sapiens_hsa007901.14550898
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.13890301
38Tryptophan metabolism_Homo sapiens_hsa003801.09975663
39Spliceosome_Homo sapiens_hsa030401.07094363
40One carbon pool by folate_Homo sapiens_hsa006701.06862043
41Base excision repair_Homo sapiens_hsa034101.06415595
42Non-homologous end-joining_Homo sapiens_hsa034501.06185254
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.04690942
44Glutathione metabolism_Homo sapiens_hsa004801.02591858
45Primary bile acid biosynthesis_Homo sapiens_hsa001201.02443182
46Pyruvate metabolism_Homo sapiens_hsa006200.97036390
47Asthma_Homo sapiens_hsa053100.96493828
48Chemical carcinogenesis_Homo sapiens_hsa052040.95619278
49Nitrogen metabolism_Homo sapiens_hsa009100.93962429
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.92742978
51Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.92599523
52Selenocompound metabolism_Homo sapiens_hsa004500.91789040
53Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.91619148
54RNA transport_Homo sapiens_hsa030130.91290708
55Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.88800130
56Metabolic pathways_Homo sapiens_hsa011000.87437534
57Type I diabetes mellitus_Homo sapiens_hsa049400.87269454
58Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.80539440
59Regulation of autophagy_Homo sapiens_hsa041400.79432271
60Rheumatoid arthritis_Homo sapiens_hsa053230.76347506
61Linoleic acid metabolism_Homo sapiens_hsa005910.74051420
62Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.73968115
63Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.70708689
64Steroid biosynthesis_Homo sapiens_hsa001000.70364052
65beta-Alanine metabolism_Homo sapiens_hsa004100.69750892
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.68105089
67Intestinal immune network for IgA production_Homo sapiens_hsa046720.67561860
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.65508105
69Primary immunodeficiency_Homo sapiens_hsa053400.64792631
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.64360703
71Retinol metabolism_Homo sapiens_hsa008300.63357733
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60983525
73Olfactory transduction_Homo sapiens_hsa047400.60636321
74Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.58956491
75Autoimmune thyroid disease_Homo sapiens_hsa053200.57331892
76Allograft rejection_Homo sapiens_hsa053300.56432608
77Steroid hormone biosynthesis_Homo sapiens_hsa001400.56383369
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.55079558
79Systemic lupus erythematosus_Homo sapiens_hsa053220.54102003
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.51282236
81Fatty acid degradation_Homo sapiens_hsa000710.51162812
82Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50738356
83Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.48591903
84Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.47769142
85Drug metabolism - other enzymes_Homo sapiens_hsa009830.47592116
86Graft-versus-host disease_Homo sapiens_hsa053320.47237211
87Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.45436637
88Fatty acid metabolism_Homo sapiens_hsa012120.42268946
89Arachidonic acid metabolism_Homo sapiens_hsa005900.40957489
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40649946
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38213842
92Carbon metabolism_Homo sapiens_hsa012000.37745040
93Taste transduction_Homo sapiens_hsa047420.37367030
94Tyrosine metabolism_Homo sapiens_hsa003500.36398450
95Ether lipid metabolism_Homo sapiens_hsa005650.36303737
96Nicotine addiction_Homo sapiens_hsa050330.36274150
97Vitamin B6 metabolism_Homo sapiens_hsa007500.34570395
98Phenylalanine metabolism_Homo sapiens_hsa003600.34434274
99N-Glycan biosynthesis_Homo sapiens_hsa005100.33015264
100Antigen processing and presentation_Homo sapiens_hsa046120.32972869

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