C12ORF43

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
1behavioral response to nicotine (GO:0035095)5.39175905
2DNA deamination (GO:0045006)4.66241973
3protein complex biogenesis (GO:0070271)4.05347700
4mitochondrial respiratory chain complex I assembly (GO:0032981)4.03399180
5NADH dehydrogenase complex assembly (GO:0010257)4.03399180
6mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.03399180
7respiratory chain complex IV assembly (GO:0008535)3.95863502
8mitochondrial respiratory chain complex assembly (GO:0033108)3.92912382
9pseudouridine synthesis (GO:0001522)3.91796570
10establishment of protein localization to mitochondrial membrane (GO:0090151)3.90275036
11water-soluble vitamin biosynthetic process (GO:0042364)3.80332744
12negative regulation of telomere maintenance (GO:0032205)3.62019294
13cytochrome complex assembly (GO:0017004)3.55876493
14transcription elongation from RNA polymerase III promoter (GO:0006385)3.54415162
15termination of RNA polymerase III transcription (GO:0006386)3.54415162
16nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.46078580
17exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.43928113
18mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.40668911
19piRNA metabolic process (GO:0034587)3.40225832
20protein-cofactor linkage (GO:0018065)3.40224774
21mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.38138223
22platelet dense granule organization (GO:0060155)3.36689997
23rRNA modification (GO:0000154)3.33402903
24RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.32699404
25fucose catabolic process (GO:0019317)3.26361147
26L-fucose metabolic process (GO:0042354)3.26361147
27L-fucose catabolic process (GO:0042355)3.26361147
28L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.24339305
29indole-containing compound catabolic process (GO:0042436)3.23917364
30indolalkylamine catabolic process (GO:0046218)3.23917364
31tryptophan catabolic process (GO:0006569)3.23917364
32indolalkylamine metabolic process (GO:0006586)3.22054667
33ATP synthesis coupled proton transport (GO:0015986)3.21736045
34energy coupled proton transport, down electrochemical gradient (GO:0015985)3.21736045
35tryptophan metabolic process (GO:0006568)3.20552565
36rRNA catabolic process (GO:0016075)3.20392284
37proteasome assembly (GO:0043248)3.20077033
38tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.17465797
39RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.17465797
40regulation of nuclear cell cycle DNA replication (GO:0033262)3.17374629
41preassembly of GPI anchor in ER membrane (GO:0016254)3.13366891
42replication fork processing (GO:0031297)3.10268180
43tRNA processing (GO:0008033)3.07970491
44kynurenine metabolic process (GO:0070189)3.07666364
45mannosylation (GO:0097502)3.06169371
46mitochondrial RNA metabolic process (GO:0000959)3.01985243
47maturation of 5.8S rRNA (GO:0000460)3.01849148
48GTP biosynthetic process (GO:0006183)2.98913252
49detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.98018722
50somatic hypermutation of immunoglobulin genes (GO:0016446)2.97028223
51somatic diversification of immune receptors via somatic mutation (GO:0002566)2.97028223
52electron transport chain (GO:0022900)2.96600708
53chaperone-mediated protein transport (GO:0072321)2.94362309
54respiratory electron transport chain (GO:0022904)2.90625035
55ubiquinone biosynthetic process (GO:0006744)2.89410978
56gamma-aminobutyric acid transport (GO:0015812)2.87513648
57rRNA methylation (GO:0031167)2.85959792
58recombinational repair (GO:0000725)2.82571726
59dopamine transport (GO:0015872)2.82419113
60double-strand break repair via homologous recombination (GO:0000724)2.80767548
61L-methionine salvage (GO:0071267)2.79979455
62L-methionine biosynthetic process (GO:0071265)2.79979455
63amino acid salvage (GO:0043102)2.79979455
64regulation of mitochondrial translation (GO:0070129)2.78766760
65protein K6-linked ubiquitination (GO:0085020)2.77080601
66negative regulation of DNA-dependent DNA replication (GO:2000104)2.76807076
67tRNA modification (GO:0006400)2.76762180
68ncRNA catabolic process (GO:0034661)2.74784211
69DNA methylation involved in gamete generation (GO:0043046)2.73572351
70cullin deneddylation (GO:0010388)2.73371559
71intracellular protein transmembrane import (GO:0044743)2.72653900
72protein polyglutamylation (GO:0018095)2.71882574
73somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.70497507
74somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.70497507
75isotype switching (GO:0045190)2.70497507
76synaptic transmission, cholinergic (GO:0007271)2.70396632
77detection of light stimulus involved in visual perception (GO:0050908)2.69211724
78detection of light stimulus involved in sensory perception (GO:0050962)2.69211724
79iron-sulfur cluster assembly (GO:0016226)2.67398988
80metallo-sulfur cluster assembly (GO:0031163)2.67398988
81DNA demethylation (GO:0080111)2.67235572
82ubiquinone metabolic process (GO:0006743)2.66811163
83negative regulation of transcription regulatory region DNA binding (GO:2000678)2.66009722
84response to pheromone (GO:0019236)2.65357896
85DNA damage response, detection of DNA damage (GO:0042769)2.63029995
86base-excision repair, AP site formation (GO:0006285)2.61742834
87protein deneddylation (GO:0000338)2.60608803
88sulfation (GO:0051923)2.58997039
89peptidyl-histidine modification (GO:0018202)2.58743550
90protein neddylation (GO:0045116)2.57217636
91tRNA metabolic process (GO:0006399)2.52920303
92DNA double-strand break processing (GO:0000729)2.52835988
93maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.51199358
94oxidative demethylation (GO:0070989)2.51150136
95regulation of hexokinase activity (GO:1903299)2.50892443
96regulation of glucokinase activity (GO:0033131)2.50892443
97centriole replication (GO:0007099)2.49719439
98cellular ketone body metabolic process (GO:0046950)2.47750287
99positive regulation of prostaglandin secretion (GO:0032308)2.47614390
100GPI anchor metabolic process (GO:0006505)2.46967985

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.81267147
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.75306956
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.58763343
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.50231229
5* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.24639605
6MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.03555957
7VDR_22108803_ChIP-Seq_LS180_Human2.90656457
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.70821907
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.69818882
10* ETS1_20019798_ChIP-Seq_JURKAT_Human2.55425201
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.51186956
12NOTCH1_21737748_ChIP-Seq_TLL_Human2.32498166
13EZH2_22144423_ChIP-Seq_EOC_Human2.29503332
14IGF1R_20145208_ChIP-Seq_DFB_Human2.14433118
15VDR_23849224_ChIP-Seq_CD4+_Human2.10625025
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02770628
17FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.97692430
18MYC_18940864_ChIP-ChIP_HL60_Human1.96161675
19EWS_26573619_Chip-Seq_HEK293_Human1.91383519
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.90436358
21SRF_21415370_ChIP-Seq_HL-1_Mouse1.88385332
22GBX2_23144817_ChIP-Seq_PC3_Human1.87876546
23FOXP3_21729870_ChIP-Seq_TREG_Human1.82316845
24ELK1_19687146_ChIP-ChIP_HELA_Human1.78197469
25ZFP57_27257070_Chip-Seq_ESCs_Mouse1.74835027
26EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.68635091
27IRF1_19129219_ChIP-ChIP_H3396_Human1.68463598
28FLI1_27457419_Chip-Seq_LIVER_Mouse1.64449046
29TP53_22573176_ChIP-Seq_HFKS_Human1.64304152
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.61192919
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.61085969
32GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60472290
33SALL1_21062744_ChIP-ChIP_HESCs_Human1.57709630
34PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.55809894
35FUS_26573619_Chip-Seq_HEK293_Human1.54225198
36P300_19829295_ChIP-Seq_ESCs_Human1.52869652
37HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.51872618
38MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.48957888
39CREB1_15753290_ChIP-ChIP_HEK293T_Human1.46989305
40E2F4_17652178_ChIP-ChIP_JURKAT_Human1.46585347
41NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.45071170
42TAF15_26573619_Chip-Seq_HEK293_Human1.44679205
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.43780880
44ELF1_17652178_ChIP-ChIP_JURKAT_Human1.37619806
45GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.31912652
46ER_23166858_ChIP-Seq_MCF-7_Human1.29986065
47* FOXA1_25329375_ChIP-Seq_VCAP_Human1.28669737
48* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.28669737
49NCOR_22424771_ChIP-Seq_293T_Human1.26007928
50REST_21632747_ChIP-Seq_MESCs_Mouse1.24109438
51GABP_19822575_ChIP-Seq_HepG2_Human1.23646400
52PCGF2_27294783_Chip-Seq_ESCs_Mouse1.23326429
53FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.20855408
54ETV2_25802403_ChIP-Seq_MESCs_Mouse1.18381730
55NANOG_19829295_ChIP-Seq_ESCs_Human1.16565900
56SOX2_19829295_ChIP-Seq_ESCs_Human1.16565900
57CBP_20019798_ChIP-Seq_JUKART_Human1.15653077
58IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.15653077
59* GATA3_21878914_ChIP-Seq_MCF-7_Human1.15060390
60HOXB7_26014856_ChIP-Seq_BT474_Human1.13872821
61BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12904711
62YY1_21170310_ChIP-Seq_MESCs_Mouse1.10031036
63THAP11_20581084_ChIP-Seq_MESCs_Mouse1.09792495
64CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.09518681
65AR_20517297_ChIP-Seq_VCAP_Human1.06919498
66TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05804090
67POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.05804090
68TTF2_22483619_ChIP-Seq_HELA_Human1.04990324
69FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.04843009
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03821143
71RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03653373
72BCAT_22108803_ChIP-Seq_LS180_Human1.02151436
73NANOG_20526341_ChIP-Seq_ESCs_Human1.01798499
74MYC_18555785_ChIP-Seq_MESCs_Mouse1.01674693
75PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.00362190
76PADI4_21655091_ChIP-ChIP_MCF-7_Human0.99327527
77POU5F1_16153702_ChIP-ChIP_HESCs_Human0.99012436
78MYC_18358816_ChIP-ChIP_MESCs_Mouse0.97688068
79HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.97119357
80CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.95619635
81SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.94666323
82TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.94519026
83KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93746543
84MYC_19829295_ChIP-Seq_ESCs_Human0.92975010
85* ERA_21632823_ChIP-Seq_H3396_Human0.92908655
86CBX2_27304074_Chip-Seq_ESCs_Mouse0.92766274
87AR_25329375_ChIP-Seq_VCAP_Human0.91935047
88TAF2_19829295_ChIP-Seq_ESCs_Human0.91797790
89HTT_18923047_ChIP-ChIP_STHdh_Human0.91085445
90KDM5A_27292631_Chip-Seq_BREAST_Human0.90342107
91TCF4_23295773_ChIP-Seq_U87_Human0.89771342
92POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.89464624
93PCGF2_27294783_Chip-Seq_NPCs_Mouse0.89155771
94TP63_19390658_ChIP-ChIP_HaCaT_Human0.89075395
95STAT3_23295773_ChIP-Seq_U87_Human0.87530168
96* FOXA1_21572438_ChIP-Seq_LNCaP_Human0.86755843
97FOXH1_21741376_ChIP-Seq_EPCs_Human0.85749134
98SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.85537740
99YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.84987645
100CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.84799313

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.32207748
2MP0002736_abnormal_nociception_after2.80215613
3MP0001968_abnormal_touch/_nociception2.70387418
4MP0008058_abnormal_DNA_repair2.68270884
5MP0006292_abnormal_olfactory_placode2.67456028
6MP0003880_abnormal_central_pattern2.55635560
7MP0002102_abnormal_ear_morphology2.51665649
8MP0005551_abnormal_eye_electrophysiolog2.23752436
9MP0008872_abnormal_physiological_respon2.21021331
10MP0003718_maternal_effect2.12321587
11MP0002735_abnormal_chemical_nociception2.08594631
12MP0009046_muscle_twitch2.01770166
13MP0003195_calcinosis2.00490559
14MP0004147_increased_porphyrin_level1.99480729
15MP0005646_abnormal_pituitary_gland1.88499063
16MP0000372_irregular_coat_pigmentation1.85655050
17MP0008875_abnormal_xenobiotic_pharmacok1.84457976
18MP0003693_abnormal_embryo_hatching1.83996799
19MP0003787_abnormal_imprinting1.83371062
20MP0001986_abnormal_taste_sensitivity1.80958622
21MP0006072_abnormal_retinal_apoptosis1.79396031
22MP0004133_heterotaxia1.77821290
23MP0009745_abnormal_behavioral_response1.75729508
24MP0002837_dystrophic_cardiac_calcinosis1.68281991
25MP0003011_delayed_dark_adaptation1.66475402
26MP0001529_abnormal_vocalization1.63351724
27MP0006276_abnormal_autonomic_nervous1.61203146
28MP0004142_abnormal_muscle_tone1.59979596
29MP0002272_abnormal_nervous_system1.57179338
30MP0005423_abnormal_somatic_nervous1.52048164
31MP0005645_abnormal_hypothalamus_physiol1.51959697
32MP0005253_abnormal_eye_physiology1.51645592
33MP0002638_abnormal_pupillary_reflex1.50885157
34MP0000631_abnormal_neuroendocrine_gland1.50453675
35MP0003646_muscle_fatigue1.49257906
36MP0001485_abnormal_pinna_reflex1.48359514
37MP0001905_abnormal_dopamine_level1.47490855
38MP0004885_abnormal_endolymph1.46555751
39MP0000569_abnormal_digit_pigmentation1.44237493
40MP0002876_abnormal_thyroid_physiology1.42424383
41MP0010094_abnormal_chromosome_stability1.41019225
42MP0006035_abnormal_mitochondrial_morpho1.36619365
43MP0002938_white_spotting1.36449735
44MP0001486_abnormal_startle_reflex1.31129851
45MP0006036_abnormal_mitochondrial_physio1.29349873
46MP0002234_abnormal_pharynx_morphology1.27479260
47MP0003136_yellow_coat_color1.26380004
48MP0004043_abnormal_pH_regulation1.26244222
49MP0005075_abnormal_melanosome_morpholog1.25828482
50MP0002160_abnormal_reproductive_system1.25781519
51MP0001970_abnormal_pain_threshold1.25584432
52MP0002572_abnormal_emotion/affect_behav1.25406306
53MP0001501_abnormal_sleep_pattern1.24957651
54MP0003786_premature_aging1.21862673
55MP0002653_abnormal_ependyma_morphology1.19647942
56MP0005174_abnormal_tail_pigmentation1.18441367
57MP0002733_abnormal_thermal_nociception1.17840821
58MP0005389_reproductive_system_phenotype1.17412296
59MP0002064_seizures1.16223369
60MP0004742_abnormal_vestibular_system1.13654031
61MP0002734_abnormal_mechanical_nocicepti1.11973628
62MP0001764_abnormal_homeostasis1.11025652
63MP0002067_abnormal_sensory_capabilities1.07708606
64MP0005084_abnormal_gallbladder_morpholo1.07323186
65MP0002277_abnormal_respiratory_mucosa1.06568059
66MP0003890_abnormal_embryonic-extraembry1.06458833
67MP0002557_abnormal_social/conspecific_i1.04628788
68MP0004924_abnormal_behavior1.02311235
69MP0005386_behavior/neurological_phenoty1.02311235
70MP0003111_abnormal_nucleus_morphology1.00495407
71MP0010386_abnormal_urinary_bladder0.99189040
72MP0008789_abnormal_olfactory_epithelium0.99006881
73MP0001293_anophthalmia0.97798389
74MP0002210_abnormal_sex_determination0.96766726
75MP0003635_abnormal_synaptic_transmissio0.95336657
76MP0009697_abnormal_copulation0.94079916
77MP0002163_abnormal_gland_morphology0.94039837
78MP0003806_abnormal_nucleotide_metabolis0.92127604
79MP0000427_abnormal_hair_cycle0.92027238
80MP0002095_abnormal_skin_pigmentation0.91741665
81MP0008995_early_reproductive_senescence0.91620422
82MP0003119_abnormal_digestive_system0.90541652
83MP0001919_abnormal_reproductive_system0.89915276
84MP0001929_abnormal_gametogenesis0.89759470
85MP0005195_abnormal_posterior_eye0.89106918
86MP0009379_abnormal_foot_pigmentation0.88758448
87MP0003283_abnormal_digestive_organ0.88380516
88MP0000049_abnormal_middle_ear0.87901295
89MP0002138_abnormal_hepatobiliary_system0.86938008
90MP0005332_abnormal_amino_acid0.86764441
91MP0005410_abnormal_fertilization0.86125716
92MP0003186_abnormal_redox_activity0.85661033
93MP0003698_abnormal_male_reproductive0.85341373
94MP0003121_genomic_imprinting0.84845763
95MP0002063_abnormal_learning/memory/cond0.83731537
96MP0002928_abnormal_bile_duct0.82627407
97MP0000653_abnormal_sex_gland0.82234065
98MP0008007_abnormal_cellular_replicative0.82000310
99MP0001963_abnormal_hearing_physiology0.80668035
100MP0002752_abnormal_somatic_nervous0.80190065

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.13718556
2Abnormality of midbrain morphology (HP:0002418)3.67333604
3Molar tooth sign on MRI (HP:0002419)3.67333604
4Pancreatic fibrosis (HP:0100732)3.59783076
5Acute necrotizing encephalopathy (HP:0006965)3.49283675
6True hermaphroditism (HP:0010459)3.35878513
7Congenital stationary night blindness (HP:0007642)3.29929604
8Type II lissencephaly (HP:0007260)3.21201127
9Mitochondrial inheritance (HP:0001427)3.17905402
10Nephronophthisis (HP:0000090)3.16893097
11Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.16568245
12Abnormality of alanine metabolism (HP:0010916)3.16568245
13Hyperalaninemia (HP:0003348)3.16568245
14Acute encephalopathy (HP:0006846)3.15663583
15Increased CSF lactate (HP:0002490)3.11824823
16Abnormal mitochondria in muscle tissue (HP:0008316)3.02907410
17Progressive macrocephaly (HP:0004481)2.96870932
18Progressive inability to walk (HP:0002505)2.89819727
19Pendular nystagmus (HP:0012043)2.85900766
20Abolished electroretinogram (ERG) (HP:0000550)2.81266497
21Attenuation of retinal blood vessels (HP:0007843)2.73888868
22Inability to walk (HP:0002540)2.72325859
23Abnormality of the renal cortex (HP:0011035)2.70025079
24Abnormality of the renal medulla (HP:0100957)2.68859383
25Hepatocellular necrosis (HP:0001404)2.58156672
26Decreased electroretinogram (ERG) amplitude (HP:0000654)2.53803043
27Colon cancer (HP:0003003)2.53592770
28Cystic liver disease (HP:0006706)2.46537201
29Optic disc pallor (HP:0000543)2.46274357
30Lipid accumulation in hepatocytes (HP:0006561)2.43433441
31Birth length less than 3rd percentile (HP:0003561)2.43257119
32Hepatic necrosis (HP:0002605)2.43018594
33Methylmalonic acidemia (HP:0002912)2.40001229
34Increased serum lactate (HP:0002151)2.36754025
35Congenital, generalized hypertrichosis (HP:0004540)2.35959689
36Medial flaring of the eyebrow (HP:0010747)2.34803763
37Increased hepatocellular lipid droplets (HP:0006565)2.34537247
38Abnormality of the pons (HP:0007361)2.32666737
39Aplasia/Hypoplasia of the tibia (HP:0005772)2.30334664
40Hypoplasia of the pons (HP:0012110)2.30332806
413-Methylglutaconic aciduria (HP:0003535)2.30197084
42Sclerocornea (HP:0000647)2.27282325
43Abnormality of the labia minora (HP:0012880)2.24750556
44Limb dystonia (HP:0002451)2.23964851
45Chronic hepatic failure (HP:0100626)2.19615269
46Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.16072845
47Lissencephaly (HP:0001339)2.15950077
48Methylmalonic aciduria (HP:0012120)2.15722550
49Tubular atrophy (HP:0000092)2.15015430
50Anencephaly (HP:0002323)2.14956774
51Abnormal rod and cone electroretinograms (HP:0008323)2.14056712
52Renal Fanconi syndrome (HP:0001994)2.12765020
53Hyperglycinuria (HP:0003108)2.12753764
54Renal cortical cysts (HP:0000803)2.07875005
55Short tibia (HP:0005736)2.06107938
56Bile duct proliferation (HP:0001408)2.04602767
57Abnormal biliary tract physiology (HP:0012439)2.04602767
58Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.04439791
59Lactic acidosis (HP:0003128)2.03985243
60Keratoconus (HP:0000563)2.03247495
61Increased corneal curvature (HP:0100692)2.03247495
62Polydipsia (HP:0001959)2.03168298
63Abnormal drinking behavior (HP:0030082)2.03168298
64Aplasia/Hypoplasia of the patella (HP:0006498)2.00055385
65Decreased central vision (HP:0007663)1.99452985
66Cerebellar dysplasia (HP:0007033)1.99108900
67Patellar aplasia (HP:0006443)1.98847314
68Abnormal number of erythroid precursors (HP:0012131)1.98289177
69Cerebral edema (HP:0002181)1.95719418
70Chorioretinal atrophy (HP:0000533)1.94535173
71Absent rod-and cone-mediated responses on ERG (HP:0007688)1.91887719
72Aplasia/Hypoplasia of the uvula (HP:0010293)1.89736394
73Aplasia/Hypoplasia of the tongue (HP:0010295)1.87586870
74Furrowed tongue (HP:0000221)1.87430395
75Constricted visual fields (HP:0001133)1.87272649
76Aplasia/Hypoplasia of the fovea (HP:0008060)1.84872112
77Hypoplasia of the fovea (HP:0007750)1.84872112
78Abnormality of the ileum (HP:0001549)1.84819952
79Meckel diverticulum (HP:0002245)1.84631540
80Optic nerve hypoplasia (HP:0000609)1.83588225
81Lethargy (HP:0001254)1.82035509
82Retinal dysplasia (HP:0007973)1.82035333
83Fibular aplasia (HP:0002990)1.81837787
84Hyperglycinemia (HP:0002154)1.81371261
85Stomach cancer (HP:0012126)1.81196874
86Abnormality of serine family amino acid metabolism (HP:0010894)1.79533335
87Abnormality of glycine metabolism (HP:0010895)1.79533335
88Gaze-evoked nystagmus (HP:0000640)1.78516171
89Small hand (HP:0200055)1.78360950
90Concave nail (HP:0001598)1.75205556
91Congenital hepatic fibrosis (HP:0002612)1.75078148
92Aplasia/Hypoplasia involving the musculature (HP:0001460)1.74847708
93Aplasia/hypoplasia of the uterus (HP:0008684)1.74102664
94Broad-based gait (HP:0002136)1.73632570
95Absent thumb (HP:0009777)1.72173581
96Severe muscular hypotonia (HP:0006829)1.71275433
97Bilateral microphthalmos (HP:0007633)1.70651225
98Respiratory failure (HP:0002878)1.70619042
99Dandy-Walker malformation (HP:0001305)1.69056422
100Gait imbalance (HP:0002141)1.68350406

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK3.70582229
2BMPR1B3.26610320
3ZAK3.22758063
4ADRBK22.93409526
5BUB12.79513926
6NUAK12.75150842
7MAP4K22.73367448
8VRK22.68618392
9TLK12.49046748
10WNK32.12635216
11GRK11.97006223
12TRIM281.92232720
13VRK11.82323513
14ACVR1B1.79089573
15TAOK31.69731017
16PINK11.56588013
17WNK41.55874391
18INSRR1.52868509
19BCKDK1.52103497
20CDC71.51044250
21MAPK131.50129326
22BRSK21.43183572
23MKNK21.39082366
24NME11.37618603
25PLK31.37022345
26OXSR11.34579740
27SRPK11.28875252
28STK161.28721190
29DYRK21.28662333
30TNIK1.25842583
31MAP3K41.24731745
32CSNK1G31.23890561
33TXK1.20812024
34CSNK1G21.18953986
35CSNK1G11.18383736
36PLK41.14683037
37TSSK61.13101813
38MAPKAPK31.07336670
39DAPK21.06031638
40CASK1.05844621
41WEE11.04467839
42PRKCG1.03574074
43TAF11.02463542
44MAP2K71.01277580
45EPHA40.99068346
46NEK20.97525483
47ADRBK10.97197867
48CHEK20.94583623
49MAPKAPK50.94533276
50MUSK0.94223158
51TGFBR10.93874611
52PLK10.91621791
53TEC0.87357144
54PNCK0.85139250
55CSNK1A1L0.83768188
56MKNK10.79898594
57ATR0.75213336
58CDK80.74092586
59PLK20.73273457
60NTRK30.73268772
61MAP3K120.70760001
62TIE10.69108103
63PAK30.68608282
64RPS6KA50.68534748
65STK390.67014850
66CDK190.66619039
67PRKCE0.65247560
68MARK10.63570850
69NEK10.61791629
70PBK0.61103328
71MST40.54869904
72GRK50.54248721
73PRKCI0.53368473
74IKBKB0.52687380
75CSNK1A10.50346005
76PHKG20.49544128
77PHKG10.49544128
78TNK20.48867345
79BRSK10.46930017
80CAMK2A0.46650351
81TTK0.44705011
82MAPK150.44089013
83STK110.43428252
84DAPK10.42548696
85ITK0.42216194
86PRKCQ0.41984369
87CSNK2A10.41815607
88PKN10.41477288
89MINK10.40811746
90AURKA0.39406679
91EIF2AK20.39377927
92PRKACA0.37787745
93NTRK20.37579380
94CSNK1D0.37567838
95CAMKK20.37252856
96CLK10.37142407
97MAP2K60.37039594
98CAMK10.36884939
99ATM0.36697926
100PRKCA0.34589258

Predicted pathways (KEGG)

RankGene SetZ-score
1RNA polymerase_Homo sapiens_hsa030203.12559081
2Oxidative phosphorylation_Homo sapiens_hsa001903.07358177
3Proteasome_Homo sapiens_hsa030502.70028794
4Homologous recombination_Homo sapiens_hsa034402.62278172
5Parkinsons disease_Homo sapiens_hsa050122.55764811
6Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.46699550
7Protein export_Homo sapiens_hsa030602.46159179
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.41312557
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.32502698
10Phototransduction_Homo sapiens_hsa047442.15295181
11Selenocompound metabolism_Homo sapiens_hsa004502.05677207
12Ribosome_Homo sapiens_hsa030101.96633240
13Fanconi anemia pathway_Homo sapiens_hsa034601.91556555
14Basal transcription factors_Homo sapiens_hsa030221.89609111
15Huntingtons disease_Homo sapiens_hsa050161.78637357
16RNA degradation_Homo sapiens_hsa030181.78409910
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.75953582
18Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.75885058
19Mismatch repair_Homo sapiens_hsa034301.70249328
20Butanoate metabolism_Homo sapiens_hsa006501.66918137
21Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.64850126
22One carbon pool by folate_Homo sapiens_hsa006701.62429475
23Nicotine addiction_Homo sapiens_hsa050331.58138665
24Nitrogen metabolism_Homo sapiens_hsa009101.55940304
25Alzheimers disease_Homo sapiens_hsa050101.52898534
26Linoleic acid metabolism_Homo sapiens_hsa005911.52249222
27Pyrimidine metabolism_Homo sapiens_hsa002401.49783966
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.48625595
29Tryptophan metabolism_Homo sapiens_hsa003801.47027877
30Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.41889900
31Base excision repair_Homo sapiens_hsa034101.37950637
32Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.34709104
33Cardiac muscle contraction_Homo sapiens_hsa042601.33375720
34Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.28399078
35DNA replication_Homo sapiens_hsa030301.26827250
36alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.25051921
37Sulfur relay system_Homo sapiens_hsa041221.24842153
38Non-homologous end-joining_Homo sapiens_hsa034501.24377317
39Caffeine metabolism_Homo sapiens_hsa002321.23950934
40Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.20561839
41Purine metabolism_Homo sapiens_hsa002301.20183199
42Nucleotide excision repair_Homo sapiens_hsa034201.19850142
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.18780428
44Maturity onset diabetes of the young_Homo sapiens_hsa049501.13079947
45RNA transport_Homo sapiens_hsa030131.07774592
46Propanoate metabolism_Homo sapiens_hsa006401.04671715
47Ether lipid metabolism_Homo sapiens_hsa005651.04070290
48Taste transduction_Homo sapiens_hsa047420.99223345
49Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.97539920
50Spliceosome_Homo sapiens_hsa030400.97098810
51Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.95075871
52Peroxisome_Homo sapiens_hsa041460.94123776
53Morphine addiction_Homo sapiens_hsa050320.92191225
54Cysteine and methionine metabolism_Homo sapiens_hsa002700.91378353
55Regulation of autophagy_Homo sapiens_hsa041400.91120789
56Olfactory transduction_Homo sapiens_hsa047400.90047521
57Primary immunodeficiency_Homo sapiens_hsa053400.85867943
58Fatty acid elongation_Homo sapiens_hsa000620.85009130
59Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.84370931
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.84153945
61Sulfur metabolism_Homo sapiens_hsa009200.83312121
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.82129079
63Collecting duct acid secretion_Homo sapiens_hsa049660.78744653
64Metabolic pathways_Homo sapiens_hsa011000.75604902
65Steroid hormone biosynthesis_Homo sapiens_hsa001400.75559814
66Chemical carcinogenesis_Homo sapiens_hsa052040.71133394
67GABAergic synapse_Homo sapiens_hsa047270.70388508
68Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69235986
69Arachidonic acid metabolism_Homo sapiens_hsa005900.67681562
70Primary bile acid biosynthesis_Homo sapiens_hsa001200.67463244
71Intestinal immune network for IgA production_Homo sapiens_hsa046720.64565670
72Serotonergic synapse_Homo sapiens_hsa047260.61779894
73Retinol metabolism_Homo sapiens_hsa008300.61461618
74Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.59554632
75Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59260408
76Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55506633
77beta-Alanine metabolism_Homo sapiens_hsa004100.54514859
78Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.53778490
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.53043560
80Insulin secretion_Homo sapiens_hsa049110.50998295
81Circadian entrainment_Homo sapiens_hsa047130.50822423
82Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49985885
83Asthma_Homo sapiens_hsa053100.49770234
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.49298379
85Ovarian steroidogenesis_Homo sapiens_hsa049130.43222189
86ABC transporters_Homo sapiens_hsa020100.40647516
87Glutamatergic synapse_Homo sapiens_hsa047240.39967661
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39333650
89Histidine metabolism_Homo sapiens_hsa003400.38197141
90Glycerolipid metabolism_Homo sapiens_hsa005610.37082305
91Folate biosynthesis_Homo sapiens_hsa007900.36217262
92Steroid biosynthesis_Homo sapiens_hsa001000.34775039
93Calcium signaling pathway_Homo sapiens_hsa040200.34710999
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34139058
95Pyruvate metabolism_Homo sapiens_hsa006200.33918232
96Dopaminergic synapse_Homo sapiens_hsa047280.33328291
97Cell cycle_Homo sapiens_hsa041100.32369375
98Glutathione metabolism_Homo sapiens_hsa004800.30320167
99Synaptic vesicle cycle_Homo sapiens_hsa047210.28846604
100Vitamin digestion and absorption_Homo sapiens_hsa049770.28416861

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