ATP6V1G2-DDX39B

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 ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.90238024
2sequestering of actin monomers (GO:0042989)7.18124580
3energy coupled proton transport, down electrochemical gradient (GO:0015985)6.53492547
4ATP synthesis coupled proton transport (GO:0015986)6.53492547
5viral transcription (GO:0019083)5.83853699
6translational termination (GO:0006415)5.70845605
7respiratory electron transport chain (GO:0022904)5.27690806
8electron transport chain (GO:0022900)5.15434601
9ribosomal small subunit assembly (GO:0000028)5.14110067
10maturation of SSU-rRNA (GO:0030490)5.06569818
11cotranslational protein targeting to membrane (GO:0006613)5.04467199
12mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.03307547
13SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.03063411
14protein targeting to ER (GO:0045047)4.95083933
15protein-cofactor linkage (GO:0018065)4.94239990
16establishment of protein localization to endoplasmic reticulum (GO:0072599)4.74651727
17chaperone-mediated protein transport (GO:0072321)4.71056495
18protein localization to endoplasmic reticulum (GO:0070972)4.68378779
19translational elongation (GO:0006414)4.63888840
20establishment of protein localization to mitochondrial membrane (GO:0090151)4.54315871
21cellular protein complex disassembly (GO:0043624)4.49988740
22nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.45245287
23viral life cycle (GO:0019058)4.39844609
24translational initiation (GO:0006413)4.06391668
25peptidyl-arginine omega-N-methylation (GO:0035247)4.02961076
26mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.02804787
27mitochondrial respiratory chain complex I assembly (GO:0032981)4.02804787
28NADH dehydrogenase complex assembly (GO:0010257)4.02804787
29protein complex disassembly (GO:0043241)3.92182006
30mitochondrial respiratory chain complex assembly (GO:0033108)3.92132997
31protein deneddylation (GO:0000338)3.90453135
32protein complex biogenesis (GO:0070271)3.84704580
33macromolecular complex disassembly (GO:0032984)3.83974743
34DNA damage response, detection of DNA damage (GO:0042769)3.82706025
35oxidative phosphorylation (GO:0006119)3.80089998
36protein neddylation (GO:0045116)3.77410820
37ribosomal small subunit biogenesis (GO:0042274)3.75876841
38cullin deneddylation (GO:0010388)3.75871401
39ATP biosynthetic process (GO:0006754)3.75388087
40peptidyl-arginine methylation (GO:0018216)3.73928398
41peptidyl-arginine N-methylation (GO:0035246)3.73928398
42hydrogen ion transmembrane transport (GO:1902600)3.62644483
43neuron fate specification (GO:0048665)3.55181877
44translation (GO:0006412)3.54123547
45purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.47961843
46ribosomal large subunit biogenesis (GO:0042273)3.46452609
47viral mRNA export from host cell nucleus (GO:0046784)3.44472889
48purine nucleoside triphosphate biosynthetic process (GO:0009145)3.42293583
49nuclear-transcribed mRNA catabolic process (GO:0000956)3.38399351
50spliceosomal snRNP assembly (GO:0000387)3.33172866
51neuron fate determination (GO:0048664)3.27657908
52protein targeting to membrane (GO:0006612)3.25768161
53mRNA catabolic process (GO:0006402)3.21714393
54ribonucleoside triphosphate biosynthetic process (GO:0009201)3.16104112
55inner mitochondrial membrane organization (GO:0007007)3.14681130
56* proton transport (GO:0015992)3.14354318
57* hydrogen transport (GO:0006818)3.11725466
58CENP-A containing nucleosome assembly (GO:0034080)3.08134101
59establishment of integrated proviral latency (GO:0075713)3.07862533
60activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.07520016
61histone arginine methylation (GO:0034969)3.06215823
62nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.04772983
63chromatin remodeling at centromere (GO:0031055)3.01336756
64exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.92054116
65DNA replication checkpoint (GO:0000076)2.91984023
66RNA catabolic process (GO:0006401)2.90698769
67termination of RNA polymerase III transcription (GO:0006386)2.90193900
68transcription elongation from RNA polymerase III promoter (GO:0006385)2.90193900
69cellular component biogenesis (GO:0044085)2.88386145
70positive regulation of gastrulation (GO:2000543)2.87131519
71response to insecticide (GO:0017085)2.85098592
72negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.82892006
73de novo posttranslational protein folding (GO:0051084)2.82843199
74regulation of hexokinase activity (GO:1903299)2.82206740
75regulation of glucokinase activity (GO:0033131)2.82206740
76negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.79933415
77ribonucleoprotein complex disassembly (GO:0032988)2.76459599
787-methylguanosine mRNA capping (GO:0006370)2.74066087
79ribonucleoprotein complex biogenesis (GO:0022613)2.73809083
80nucleoside triphosphate biosynthetic process (GO:0009142)2.73597891
81histone H4-K12 acetylation (GO:0043983)2.72457306
82proteasome assembly (GO:0043248)2.70848522
83purine nucleoside monophosphate biosynthetic process (GO:0009127)2.69520157
84purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.69520157
85de novo protein folding (GO:0006458)2.68827981
86deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.68072342
87peptidyl-histidine modification (GO:0018202)2.67057952
88RNA capping (GO:0036260)2.66554786
897-methylguanosine RNA capping (GO:0009452)2.66554786
90spinal cord motor neuron differentiation (GO:0021522)2.65878733
91protein targeting to mitochondrion (GO:0006626)2.65498010
92formation of translation preinitiation complex (GO:0001731)2.65355009
93protein localization to kinetochore (GO:0034501)2.64963565
94alternative mRNA splicing, via spliceosome (GO:0000380)2.64451948
95histone H4-K8 acetylation (GO:0043982)2.63366986
96histone H4-K5 acetylation (GO:0043981)2.63366986
97protein localization to mitochondrion (GO:0070585)2.61709558
98dopamine biosynthetic process (GO:0042416)2.61375251
99GTP biosynthetic process (GO:0006183)2.61112071
100respiratory chain complex IV assembly (GO:0008535)2.60705332

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.65677058
2EST1_17652178_ChIP-ChIP_JURKAT_Human4.13552983
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.08380903
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.28660938
5ETS1_20019798_ChIP-Seq_JURKAT_Human3.21951180
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.15689051
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.14705189
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.11796956
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.07752139
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.99630234
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.97008016
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.87630757
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.64172095
14XRN2_22483619_ChIP-Seq_HELA_Human2.60383293
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.57970537
16EZH2_22144423_ChIP-Seq_EOC_Human2.53077256
17NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.47334466
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.47078662
19TTF2_22483619_ChIP-Seq_HELA_Human2.46168969
20VDR_23849224_ChIP-Seq_CD4+_Human2.43907434
21CBX2_27304074_Chip-Seq_ESCs_Mouse2.38959349
22E2F7_22180533_ChIP-Seq_HELA_Human2.30001398
23THAP11_20581084_ChIP-Seq_MESCs_Mouse2.27338258
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.21225749
25MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.16583585
26MYC_18358816_ChIP-ChIP_MESCs_Mouse2.05219420
27ELF1_17652178_ChIP-ChIP_JURKAT_Human2.04695284
28ELK1_19687146_ChIP-ChIP_HELA_Human2.02975958
29FOXP3_21729870_ChIP-Seq_TREG_Human2.02352311
30YY1_21170310_ChIP-Seq_MESCs_Mouse2.02015866
31TAF15_26573619_Chip-Seq_HEK293_Human2.00945748
32BMI1_23680149_ChIP-Seq_NPCS_Mouse1.96112508
33MYC_19030024_ChIP-ChIP_MESCs_Mouse1.95145950
34MYC_18940864_ChIP-ChIP_HL60_Human1.92345187
35TP63_19390658_ChIP-ChIP_HaCaT_Human1.91797866
36FOXM1_23109430_ChIP-Seq_U2OS_Human1.90686195
37ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.86961884
38EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.83027125
39DCP1A_22483619_ChIP-Seq_HELA_Human1.81248668
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.80399331
41RNF2_27304074_Chip-Seq_NSC_Mouse1.71400169
42FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.70051832
43YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.68151079
44POU5F1_16153702_ChIP-ChIP_HESCs_Human1.67485509
45MYC_19079543_ChIP-ChIP_MESCs_Mouse1.67140884
46POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.66517772
47ZNF274_21170338_ChIP-Seq_K562_Hela1.61986356
48E2F1_18555785_ChIP-Seq_MESCs_Mouse1.59946877
49EWS_26573619_Chip-Seq_HEK293_Human1.54715126
50EED_16625203_ChIP-ChIP_MESCs_Mouse1.53181760
51SRF_21415370_ChIP-Seq_HL-1_Mouse1.52870390
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50881901
53POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.49583769
54MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.39600265
55HOXB4_20404135_ChIP-ChIP_EML_Mouse1.38926615
56GABP_19822575_ChIP-Seq_HepG2_Human1.38515917
57KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.36812363
58SOX2_16153702_ChIP-ChIP_HESCs_Human1.34637569
59SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.31610387
60CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.31268767
61PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.29757510
62GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27858322
63IRF1_19129219_ChIP-ChIP_H3396_Human1.25665282
64SOX2_18555785_ChIP-Seq_MESCs_Mouse1.25434695
65CIITA_25753668_ChIP-Seq_RAJI_Human1.22315104
66NELFA_20434984_ChIP-Seq_ESCs_Mouse1.20338201
67PADI4_21655091_ChIP-ChIP_MCF-7_Human1.20022977
68VDR_22108803_ChIP-Seq_LS180_Human1.19032915
69CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.18290971
70JARID2_20064375_ChIP-Seq_MESCs_Mouse1.17691767
71RBPJ_22232070_ChIP-Seq_NCS_Mouse1.15569949
72RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13675424
73FUS_26573619_Chip-Seq_HEK293_Human1.13006437
74MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.10954792
75CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.10062833
76DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.09068304
77CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.06616182
78KDM5A_27292631_Chip-Seq_BREAST_Human1.05952764
79TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02498073
80ELK1_22589737_ChIP-Seq_MCF10A_Human1.01878033
81CTBP1_25329375_ChIP-Seq_LNCAP_Human1.01197040
82NOTCH1_21737748_ChIP-Seq_TLL_Human0.99066245
83MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.97319861
84ZFP57_27257070_Chip-Seq_ESCs_Mouse0.97114364
85CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.96604735
86FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.93006865
87JARID2_20075857_ChIP-Seq_MESCs_Mouse0.92853066
88BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.92459778
89TP53_20018659_ChIP-ChIP_R1E_Mouse0.89082090
90CTBP2_25329375_ChIP-Seq_LNCAP_Human0.88797071
91SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.88153893
92POU3F2_20337985_ChIP-ChIP_501MEL_Human0.86294006
93SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.85237526
94ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.85231413
95ERG_20517297_ChIP-Seq_VCAP_Human0.83718353
96TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.83152957
97SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.81529276
98CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.80961227
99CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.80827611
100REST_21632747_ChIP-Seq_MESCs_Mouse0.79552615

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.23663316
2MP0003880_abnormal_central_pattern3.62334228
3MP0000566_synostosis2.88641109
4MP0001529_abnormal_vocalization2.68589058
5MP0008058_abnormal_DNA_repair2.66549594
6MP0002102_abnormal_ear_morphology2.66100612
7MP0003283_abnormal_digestive_organ2.60294775
8MP0008995_early_reproductive_senescence2.44503488
9MP0002822_catalepsy2.44064696
10MP0001346_abnormal_lacrimal_gland2.42466703
11MP0002837_dystrophic_cardiac_calcinosis2.28339919
12MP0006292_abnormal_olfactory_placode2.12457371
13MP0002277_abnormal_respiratory_mucosa1.97889453
14MP0004133_heterotaxia1.93382327
15MP0001905_abnormal_dopamine_level1.91234049
16MP0006072_abnormal_retinal_apoptosis1.91119348
17MP0003011_delayed_dark_adaptation1.88515089
18MP0008789_abnormal_olfactory_epithelium1.85262157
19MP0006276_abnormal_autonomic_nervous1.85043666
20MP0002938_white_spotting1.77812326
21MP0005423_abnormal_somatic_nervous1.68111009
22MP0002234_abnormal_pharynx_morphology1.67947271
23MP0010094_abnormal_chromosome_stability1.67602423
24MP0005394_taste/olfaction_phenotype1.55761963
25MP0005499_abnormal_olfactory_system1.55761963
26MP0003119_abnormal_digestive_system1.54029538
27MP0005645_abnormal_hypothalamus_physiol1.53218121
28MP0010386_abnormal_urinary_bladder1.51167691
29MP0004145_abnormal_muscle_electrophysio1.47586954
30MP0000778_abnormal_nervous_system1.47550670
31MP0003111_abnormal_nucleus_morphology1.47447139
32MP0003136_yellow_coat_color1.46423459
33MP0008961_abnormal_basal_metabolism1.41190851
34MP0003938_abnormal_ear_development1.41151557
35MP0002909_abnormal_adrenal_gland1.40199889
36MP0000631_abnormal_neuroendocrine_gland1.39578464
37MP0001968_abnormal_touch/_nociception1.38714520
38MP0006035_abnormal_mitochondrial_morpho1.34032104
39MP0001188_hyperpigmentation1.33692238
40MP0008932_abnormal_embryonic_tissue1.31945333
41MP0002735_abnormal_chemical_nociception1.31641218
42MP0001984_abnormal_olfaction1.31324350
43MP0003693_abnormal_embryo_hatching1.26955502
44MP0003122_maternal_imprinting1.24214535
45MP0004957_abnormal_blastocyst_morpholog1.22286321
46MP0002736_abnormal_nociception_after1.22050347
47MP0009697_abnormal_copulation1.19950541
48MP0005646_abnormal_pituitary_gland1.18835292
49MP0009745_abnormal_behavioral_response1.17808309
50MP0003121_genomic_imprinting1.16969411
51MP0003186_abnormal_redox_activity1.16673606
52MP0005379_endocrine/exocrine_gland_phen1.16133662
53MP0004142_abnormal_muscle_tone1.15742163
54MP0004859_abnormal_synaptic_plasticity1.15613436
55MP0005253_abnormal_eye_physiology1.15266780
56MP0002751_abnormal_autonomic_nervous1.15083873
57MP0001440_abnormal_grooming_behavior1.13971110
58MP0003077_abnormal_cell_cycle1.12658784
59MP0010030_abnormal_orbit_morphology1.11111272
60MP0003635_abnormal_synaptic_transmissio1.11103813
61MP0002064_seizures1.10556417
62MP0001286_abnormal_eye_development1.09623570
63MP0003786_premature_aging1.09314288
64MP0003718_maternal_effect1.09248107
65MP0009250_abnormal_appendicular_skeleto1.08178422
66MP0006036_abnormal_mitochondrial_physio1.06894669
67MP0000049_abnormal_middle_ear1.06099782
68MP0002272_abnormal_nervous_system1.05521247
69MP0002733_abnormal_thermal_nociception1.04703965
70MP0001486_abnormal_startle_reflex1.03635704
71MP0000372_irregular_coat_pigmentation1.03393582
72MP0000955_abnormal_spinal_cord1.03225505
73MP0005187_abnormal_penis_morphology0.97646959
74MP0002282_abnormal_trachea_morphology0.95520539
75MP0001970_abnormal_pain_threshold0.92766489
76MP0004924_abnormal_behavior0.92534402
77MP0005386_behavior/neurological_phenoty0.92534402
78MP0002557_abnormal_social/conspecific_i0.91863788
79MP0000462_abnormal_digestive_system0.90426258
80MP0002572_abnormal_emotion/affect_behav0.89337792
81MP0003937_abnormal_limbs/digits/tail_de0.88969470
82MP0003959_abnormal_lean_body0.88657424
83MP0002063_abnormal_learning/memory/cond0.87719667
84MP0002734_abnormal_mechanical_nocicepti0.87614594
85MP0002184_abnormal_innervation0.87349182
86MP0003890_abnormal_embryonic-extraembry0.86212162
87MP0000026_abnormal_inner_ear0.85658926
88MP0003315_abnormal_perineum_morphology0.85509216
89MP0004811_abnormal_neuron_physiology0.85371915
90MP0002752_abnormal_somatic_nervous0.85236483
91MP0005551_abnormal_eye_electrophysiolog0.85184854
92MP0002882_abnormal_neuron_morphology0.83191148
93MP0003385_abnormal_body_wall0.82163531
94MP0002163_abnormal_gland_morphology0.80949893
95MP0008007_abnormal_cellular_replicative0.80840346
96MP0000538_abnormal_urinary_bladder0.79589143
97MP0001324_abnormal_eye_pigmentation0.78574528
98MP0002067_abnormal_sensory_capabilities0.77310933
99MP0001944_abnormal_pancreas_morphology0.76628965
100MP0002210_abnormal_sex_determination0.74981841

Predicted human phenotypes

RankGene SetZ-score
1Increased hepatocellular lipid droplets (HP:0006565)4.67417875
2Mitochondrial inheritance (HP:0001427)4.57957756
3Hepatocellular necrosis (HP:0001404)4.26252555
4Hepatic necrosis (HP:0002605)4.05677740
5Lipid accumulation in hepatocytes (HP:0006561)3.93879214
6Renal Fanconi syndrome (HP:0001994)3.91717526
7Reticulocytopenia (HP:0001896)3.91661019
8Increased CSF lactate (HP:0002490)3.89829023
9Acute necrotizing encephalopathy (HP:0006965)3.82777504
10Abnormal number of erythroid precursors (HP:0012131)3.63157127
11Abnormal mitochondria in muscle tissue (HP:0008316)3.59348300
12Increased intramyocellular lipid droplets (HP:0012240)3.47839974
13Hypothermia (HP:0002045)3.34672275
14Abnormality of cells of the erythroid lineage (HP:0012130)3.27830282
15Macrocytic anemia (HP:0001972)3.07387924
16Focal motor seizures (HP:0011153)3.01290056
17Limb dystonia (HP:0002451)3.00951528
18Progressive macrocephaly (HP:0004481)2.99990113
19Acute encephalopathy (HP:0006846)2.95568136
20Exertional dyspnea (HP:0002875)2.91668633
21Pancreatic fibrosis (HP:0100732)2.81557526
22Rhinitis (HP:0012384)2.79106799
23Generalized aminoaciduria (HP:0002909)2.78462987
24Atonic seizures (HP:0010819)2.76506413
25Short tibia (HP:0005736)2.68957132
263-Methylglutaconic aciduria (HP:0003535)2.66298199
27Increased muscle lipid content (HP:0009058)2.66087559
28Pallor (HP:0000980)2.63005759
29Respiratory difficulties (HP:0002880)2.60775906
30Anencephaly (HP:0002323)2.54751131
31Pancreatic cysts (HP:0001737)2.52010162
32Optic disc pallor (HP:0000543)2.51839453
33Congenital, generalized hypertrichosis (HP:0004540)2.50243504
34Myokymia (HP:0002411)2.45855000
35Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.42841229
36Supernumerary spleens (HP:0009799)2.42369307
37Abnormality of renal resorption (HP:0011038)2.42271799
38Type II lissencephaly (HP:0007260)2.39882089
39Volvulus (HP:0002580)2.38931574
40Decreased activity of mitochondrial respiratory chain (HP:0008972)2.36620332
41Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.36620332
42Oral leukoplakia (HP:0002745)2.35645183
43Lactic acidosis (HP:0003128)2.33791756
44Abnormality of the 4th metacarpal (HP:0010012)2.33054166
45Cerebral edema (HP:0002181)2.32843957
46Increased serum lactate (HP:0002151)2.31297330
47Abnormality of the parietal bone (HP:0002696)2.30344753
48Aplasia/Hypoplasia of the tibia (HP:0005772)2.29456587
49Aplastic anemia (HP:0001915)2.28525182
50Abnormality of midbrain morphology (HP:0002418)2.25176242
51Molar tooth sign on MRI (HP:0002419)2.25176242
52Esophageal atresia (HP:0002032)2.21196434
53True hermaphroditism (HP:0010459)2.21011120
54Cortical dysplasia (HP:0002539)2.20182926
55Congenital malformation of the right heart (HP:0011723)2.16936019
56Double outlet right ventricle (HP:0001719)2.16936019
57Aplasia/Hypoplasia of the sacrum (HP:0008517)2.15499982
58Abnormality of the phalanges of the hallux (HP:0010057)2.15499916
59Glycosuria (HP:0003076)2.12307291
60Abnormality of urine glucose concentration (HP:0011016)2.12307291
61Abnormality of the labia minora (HP:0012880)2.11167976
62Respiratory failure (HP:0002878)2.07713351
63Renal cortical cysts (HP:0000803)2.05255523
64Limb hypertonia (HP:0002509)2.04900647
65Absence seizures (HP:0002121)2.03173162
66Hypoplastic left heart (HP:0004383)2.02543276
67Type I transferrin isoform profile (HP:0003642)2.00547371
68Emotional lability (HP:0000712)1.96813860
69Medial flaring of the eyebrow (HP:0010747)1.91548813
70Focal seizures (HP:0007359)1.90997503
71Abnormal pupillary function (HP:0007686)1.90745086
72Nephronophthisis (HP:0000090)1.90227922
73Cerebellar dysplasia (HP:0007033)1.87411152
74Anterior segment dysgenesis (HP:0007700)1.86472137
75Degeneration of anterior horn cells (HP:0002398)1.86093686
76Abnormality of the anterior horn cell (HP:0006802)1.86093686
77Abnormality of the pons (HP:0007361)1.85007605
78Hypoplasia of the pons (HP:0012110)1.84931692
79Absent septum pellucidum (HP:0001331)1.84894380
80Gait imbalance (HP:0002141)1.84439112
81Birth length less than 3rd percentile (HP:0003561)1.84409819
82Exercise intolerance (HP:0003546)1.84373057
83Microvesicular hepatic steatosis (HP:0001414)1.81082666
84Aplasia/Hypoplasia of the brainstem (HP:0007362)1.77745606
85Hypoplasia of the brainstem (HP:0002365)1.77745606
86Partial duplication of the phalanx of hand (HP:0009999)1.77297776
87Abnormal lung lobation (HP:0002101)1.75745360
88Congenital primary aphakia (HP:0007707)1.74909222
89Triphalangeal thumb (HP:0001199)1.74809078
90X-linked dominant inheritance (HP:0001423)1.74753720
91Abnormal umbilical cord blood vessels (HP:0011403)1.73405984
92Single umbilical artery (HP:0001195)1.73405984
93Abnormality of the fetal cardiovascular system (HP:0010948)1.73405984
94Hyperphosphaturia (HP:0003109)1.73284471
95Retinal dysplasia (HP:0007973)1.72786300
96Colon cancer (HP:0003003)1.71771873
97Occipital encephalocele (HP:0002085)1.70063605
98Preaxial hand polydactyly (HP:0001177)1.69918215
99Oligodactyly (hands) (HP:0001180)1.69821886
100Abnormal glycosylation (HP:0012345)1.69751769

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.30010383
2VRK23.49604371
3MARK13.22458433
4NME13.19806797
5TRIM282.95990712
6MAP3K42.41811690
7DYRK22.40709236
8SRPK12.38872292
9ADRBK22.34335363
10BCKDK2.32524555
11VRK12.29178496
12DYRK32.24340722
13STK162.16921093
14TLK12.13669880
15TXK2.13375590
16CDC72.12007740
17ZAK2.00188235
18PINK11.98582460
19MAP2K71.96822152
20CASK1.72768916
21CDK31.59441656
22MAPK131.43848841
23UHMK11.39735518
24TSSK61.30987260
25NUAK11.27914029
26MKNK11.27517948
27BRD41.26328718
28MAPKAPK51.25268850
29INSRR1.25120014
30WNK31.23106777
31PLK41.22452140
32DYRK1A1.17163224
33KDR1.16137051
34PBK1.15080488
35MAPK71.15047109
36CSNK1G21.13727145
37TTK1.13343388
38MAP2K21.13021337
39NEK11.12982071
40PLK31.07851249
41CCNB11.04566055
42CSNK1G31.03493123
43TESK21.02499970
44DYRK1B0.96828140
45MAPK150.92586655
46BCR0.90707712
47RPS6KA50.88580070
48PASK0.88473397
49PRKCG0.87323748
50CHEK20.86535379
51AURKB0.85560564
52NTRK30.85521920
53PHKG20.85068784
54PHKG10.85068784
55MAP4K20.79170945
56CSNK1A1L0.78182753
57ATR0.77256581
58WEE10.77181384
59LRRK20.74857112
60MKNK20.71157500
61CLK10.71033558
62MAP2K40.70095165
63CSNK2A20.69257378
64GRK50.67939317
65MINK10.66944588
66CSNK2A10.65754601
67PLK10.65016056
68PAK30.63968795
69NEK20.63171193
70GRK70.61118088
71CSNK1G10.60912247
72AURKA0.60268568
73STK40.59276132
74ALK0.58643274
75RPS6KA10.56296938
76CDK140.55198616
77CDK180.54607625
78BRSK10.54414936
79CDK150.53644522
80EIF2AK10.53383932
81MAPK40.51856768
82TAF10.50711729
83GRK10.50035993
84DAPK10.49683721
85CDK70.49606359
86CDK11A0.48837238
87MAP3K100.48506093
88CSNK1E0.47634054
89PRKG10.47384805
90CDK20.46564282
91CAMK2A0.46560044
92PRKACA0.41533913
93EIF2AK20.40673203
94CDK10.39939221
95CDK120.39879502
96ADRBK10.38462360
97ERBB30.37646295
98DAPK30.37373027
99CHUK0.35172676
100RPS6KA40.34045877

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001905.24211356
2Ribosome_Homo sapiens_hsa030105.05611544
3Parkinsons disease_Homo sapiens_hsa050124.88336780
4Huntingtons disease_Homo sapiens_hsa050163.34984902
5Alzheimers disease_Homo sapiens_hsa050103.12224205
6Proteasome_Homo sapiens_hsa030503.09094366
7Protein export_Homo sapiens_hsa030603.06024501
8RNA polymerase_Homo sapiens_hsa030202.82610070
9Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.77249641
10Cardiac muscle contraction_Homo sapiens_hsa042602.75720941
11Mismatch repair_Homo sapiens_hsa034302.58494144
12DNA replication_Homo sapiens_hsa030302.47575674
13Spliceosome_Homo sapiens_hsa030402.40072618
14Maturity onset diabetes of the young_Homo sapiens_hsa049502.13154126
15Homologous recombination_Homo sapiens_hsa034402.03988578
16Nicotine addiction_Homo sapiens_hsa050331.91361946
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.83242617
18RNA transport_Homo sapiens_hsa030131.70668286
19Base excision repair_Homo sapiens_hsa034101.58085729
20Nucleotide excision repair_Homo sapiens_hsa034201.49083232
21Collecting duct acid secretion_Homo sapiens_hsa049661.48336049
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.39498432
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.37520154
24Pyrimidine metabolism_Homo sapiens_hsa002401.34945255
25RNA degradation_Homo sapiens_hsa030181.26116743
26Purine metabolism_Homo sapiens_hsa002301.19903477
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.19640872
28Pyruvate metabolism_Homo sapiens_hsa006201.19430221
29Folate biosynthesis_Homo sapiens_hsa007901.19324031
30Basal transcription factors_Homo sapiens_hsa030221.12093122
31One carbon pool by folate_Homo sapiens_hsa006701.06132360
32Fanconi anemia pathway_Homo sapiens_hsa034601.03028860
33Non-homologous end-joining_Homo sapiens_hsa034500.99577165
34Sulfur relay system_Homo sapiens_hsa041220.94719669
35Cell cycle_Homo sapiens_hsa041100.90133419
36Fatty acid elongation_Homo sapiens_hsa000620.84619845
37Phototransduction_Homo sapiens_hsa047440.83777628
38GABAergic synapse_Homo sapiens_hsa047270.83180209
39mRNA surveillance pathway_Homo sapiens_hsa030150.81116692
40Taste transduction_Homo sapiens_hsa047420.79754475
41Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.75429501
42Synaptic vesicle cycle_Homo sapiens_hsa047210.74255805
43Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.71413364
44Morphine addiction_Homo sapiens_hsa050320.69905634
45Alcoholism_Homo sapiens_hsa050340.66105875
46Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.65825255
47Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.62313299
48Metabolic pathways_Homo sapiens_hsa011000.62034753
49Cocaine addiction_Homo sapiens_hsa050300.61826254
50Systemic lupus erythematosus_Homo sapiens_hsa053220.57865057
51Serotonergic synapse_Homo sapiens_hsa047260.50769369
52p53 signaling pathway_Homo sapiens_hsa041150.50459651
53Oocyte meiosis_Homo sapiens_hsa041140.50441525
54Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.50159417
55Regulation of autophagy_Homo sapiens_hsa041400.49789419
56Primary bile acid biosynthesis_Homo sapiens_hsa001200.44959459
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.44907924
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.44667416
59Vibrio cholerae infection_Homo sapiens_hsa051100.44484090
60Steroid biosynthesis_Homo sapiens_hsa001000.44256834
61Propanoate metabolism_Homo sapiens_hsa006400.44232858
62Dopaminergic synapse_Homo sapiens_hsa047280.42922687
63Gap junction_Homo sapiens_hsa045400.42618989
64Cysteine and methionine metabolism_Homo sapiens_hsa002700.42033123
65Tyrosine metabolism_Homo sapiens_hsa003500.38693224
66Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.38577702
67N-Glycan biosynthesis_Homo sapiens_hsa005100.38087925
68Rheumatoid arthritis_Homo sapiens_hsa053230.37685267
69Phenylalanine metabolism_Homo sapiens_hsa003600.37433292
70Peroxisome_Homo sapiens_hsa041460.36174402
71Glutamatergic synapse_Homo sapiens_hsa047240.35841126
72Epstein-Barr virus infection_Homo sapiens_hsa051690.34139123
73Primary immunodeficiency_Homo sapiens_hsa053400.33736133
74Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.33714612
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.32163001
76Tryptophan metabolism_Homo sapiens_hsa003800.30492094
77Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.30359007
78Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.29384187
79Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.28460720
80Basal cell carcinoma_Homo sapiens_hsa052170.28398536
81Amphetamine addiction_Homo sapiens_hsa050310.28304767
82Sulfur metabolism_Homo sapiens_hsa009200.26289166
83Circadian entrainment_Homo sapiens_hsa047130.26076807
84Cholinergic synapse_Homo sapiens_hsa047250.25877083
85Phagosome_Homo sapiens_hsa041450.24592166
86Hedgehog signaling pathway_Homo sapiens_hsa043400.24117375
87Olfactory transduction_Homo sapiens_hsa047400.23549353
88Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.23524925
89Selenocompound metabolism_Homo sapiens_hsa004500.22787708
90Chemical carcinogenesis_Homo sapiens_hsa052040.21595132
91Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.17472717
92Vitamin digestion and absorption_Homo sapiens_hsa049770.15767820
93Butanoate metabolism_Homo sapiens_hsa006500.13754379
94Wnt signaling pathway_Homo sapiens_hsa043100.10767794
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.09500515
96Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.08468577
97Legionellosis_Homo sapiens_hsa051340.07466580
98TGF-beta signaling pathway_Homo sapiens_hsa043500.04699964
99Asthma_Homo sapiens_hsa053100.04094056
100Starch and sucrose metabolism_Homo sapiens_hsa005000.03779468

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