LRTOMT

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 gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axonemal dynein complex assembly (GO:0070286)9.76737364
2cilium or flagellum-dependent cell motility (GO:0001539)8.46299625
3cilium movement (GO:0003341)8.16650945
4epithelial cilium movement (GO:0003351)8.03850517
5epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.82278242
6motile cilium assembly (GO:0044458)6.61057787
7axoneme assembly (GO:0035082)6.31746240
8regulation of cilium movement (GO:0003352)5.44907978
9behavioral response to nicotine (GO:0035095)5.17140114
10cilium organization (GO:0044782)4.55925892
11intraciliary transport (GO:0042073)4.45103052
12cilium assembly (GO:0042384)4.42608354
13protein localization to cilium (GO:0061512)4.41197605
14left/right pattern formation (GO:0060972)4.11413718
15response to pheromone (GO:0019236)4.05494634
16cilium morphogenesis (GO:0060271)4.02081725
17left/right axis specification (GO:0070986)4.01207001
18sperm motility (GO:0030317)3.94618316
19regulation of microtubule-based movement (GO:0060632)3.74945467
20centriole replication (GO:0007099)3.74445480
21protein polyglutamylation (GO:0018095)3.72931578
22microtubule bundle formation (GO:0001578)3.65378326
23centriole assembly (GO:0098534)3.53462712
24nonmotile primary cilium assembly (GO:0035058)3.51451645
25negative regulation of T cell differentiation in thymus (GO:0033085)3.50876743
26ventricular system development (GO:0021591)3.42575395
27cellular component assembly involved in morphogenesis (GO:0010927)3.39833297
28water-soluble vitamin biosynthetic process (GO:0042364)3.36394622
29fucose catabolic process (GO:0019317)3.35930470
30L-fucose metabolic process (GO:0042354)3.35930470
31L-fucose catabolic process (GO:0042355)3.35930470
32microtubule depolymerization (GO:0007019)3.34837490
33cellular ketone body metabolic process (GO:0046950)3.34625483
34mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.11571386
35protein complex biogenesis (GO:0070271)3.07039982
36respiratory chain complex IV assembly (GO:0008535)3.06091866
37energy coupled proton transport, down electrochemical gradient (GO:0015985)3.03778300
38ATP synthesis coupled proton transport (GO:0015986)3.03778300
39mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.03763356
40multicellular organism reproduction (GO:0032504)2.99254568
41piRNA metabolic process (GO:0034587)2.97791573
42ketone body metabolic process (GO:1902224)2.97250301
43cornea development in camera-type eye (GO:0061303)2.95381238
44response to xenobiotic stimulus (GO:0009410)2.92845880
45mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.88882198
46mitochondrial respiratory chain complex I assembly (GO:0032981)2.88882198
47NADH dehydrogenase complex assembly (GO:0010257)2.88882198
48ubiquinone biosynthetic process (GO:0006744)2.88549907
49mitochondrial respiratory chain complex assembly (GO:0033108)2.87419789
50preassembly of GPI anchor in ER membrane (GO:0016254)2.87349885
51protein-cofactor linkage (GO:0018065)2.85054398
52cell projection assembly (GO:0030031)2.83185835
53spinal cord motor neuron differentiation (GO:0021522)2.82651784
54DNA deamination (GO:0045006)2.81314062
55smoothened signaling pathway (GO:0007224)2.80496394
56exogenous drug catabolic process (GO:0042738)2.77375544
57nucleoside diphosphate phosphorylation (GO:0006165)2.73654078
58rRNA catabolic process (GO:0016075)2.73412651
59retinal cone cell development (GO:0046549)2.72941264
60photoreceptor cell maintenance (GO:0045494)2.69578371
61microtubule polymerization or depolymerization (GO:0031109)2.68684392
62behavioral response to ethanol (GO:0048149)2.67625327
63detection of light stimulus involved in sensory perception (GO:0050962)2.66103384
64detection of light stimulus involved in visual perception (GO:0050908)2.66103384
65determination of left/right symmetry (GO:0007368)2.66008428
66cytochrome complex assembly (GO:0017004)2.64738341
67ubiquinone metabolic process (GO:0006743)2.64372064
68neuronal action potential (GO:0019228)2.63926852
69one-carbon compound transport (GO:0019755)2.62700135
70detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.62081962
71electron transport chain (GO:0022900)2.62049839
72negative regulation of telomere maintenance (GO:0032205)2.61131943
73neural tube formation (GO:0001841)2.60742490
74primary alcohol catabolic process (GO:0034310)2.60710947
75establishment of protein localization to mitochondrial membrane (GO:0090151)2.59371117
76rRNA methylation (GO:0031167)2.58659440
77indolalkylamine metabolic process (GO:0006586)2.57779003
78rRNA modification (GO:0000154)2.56764990
79spermatid development (GO:0007286)2.54833287
80microtubule-based movement (GO:0007018)2.54151986
81tryptophan catabolic process (GO:0006569)2.53327731
82indole-containing compound catabolic process (GO:0042436)2.53327731
83indolalkylamine catabolic process (GO:0046218)2.53327731
84acrosome reaction (GO:0007340)2.51134032
85drug catabolic process (GO:0042737)2.48015126
86GPI anchor metabolic process (GO:0006505)2.47201321
87kynurenine metabolic process (GO:0070189)2.46946065
88respiratory electron transport chain (GO:0022904)2.46648551
89platelet dense granule organization (GO:0060155)2.46278465
90DNA methylation involved in gamete generation (GO:0043046)2.45090121
91vitamin transmembrane transport (GO:0035461)2.43525494
92determination of bilateral symmetry (GO:0009855)2.43507119
93protein neddylation (GO:0045116)2.43399567
94sulfation (GO:0051923)2.43063186
95GTP biosynthetic process (GO:0006183)2.41768368
96mannosylation (GO:0097502)2.41238926
97regulation of action potential (GO:0098900)2.38073135
98specification of symmetry (GO:0009799)2.37191642
99photoreceptor cell development (GO:0042461)2.35439579
100sperm capacitation (GO:0048240)2.34960824

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.68371228
2VDR_22108803_ChIP-Seq_LS180_Human3.28903753
3EZH2_22144423_ChIP-Seq_EOC_Human2.67093429
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.66668721
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.49042518
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.28692784
7CTBP1_25329375_ChIP-Seq_LNCAP_Human2.11904498
8CTBP2_25329375_ChIP-Seq_LNCAP_Human2.11518826
9GABP_17652178_ChIP-ChIP_JURKAT_Human2.07408956
10EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human2.06012704
11GBX2_23144817_ChIP-Seq_PC3_Human2.04846208
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.97828267
13FUS_26573619_Chip-Seq_HEK293_Human1.95072035
14EWS_26573619_Chip-Seq_HEK293_Human1.93097780
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.92335740
16ZFP57_27257070_Chip-Seq_ESCs_Mouse1.89027329
17IGF1R_20145208_ChIP-Seq_DFB_Human1.83804967
18ER_23166858_ChIP-Seq_MCF-7_Human1.81502044
19TAF15_26573619_Chip-Seq_HEK293_Human1.79496573
20POU3F2_20337985_ChIP-ChIP_501MEL_Human1.78599778
21TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.77744029
22FLI1_27457419_Chip-Seq_LIVER_Mouse1.76561076
23FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.74562383
24P300_19829295_ChIP-Seq_ESCs_Human1.72052097
25KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.69386002
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.64483475
27EST1_17652178_ChIP-ChIP_JURKAT_Human1.61681318
28HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.55078225
29FOXA1_27270436_Chip-Seq_PROSTATE_Human1.53658633
30FOXA1_25329375_ChIP-Seq_VCAP_Human1.53658633
31BCAT_22108803_ChIP-Seq_LS180_Human1.49893286
32IRF1_19129219_ChIP-ChIP_H3396_Human1.49043416
33BMI1_23680149_ChIP-Seq_NPCS_Mouse1.48040966
34TP53_22573176_ChIP-Seq_HFKS_Human1.47716473
35PCGF2_27294783_Chip-Seq_ESCs_Mouse1.45212009
36SALL1_21062744_ChIP-ChIP_HESCs_Human1.45018365
37PIAS1_25552417_ChIP-Seq_VCAP_Human1.43639560
38CBP_20019798_ChIP-Seq_JUKART_Human1.43603228
39IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.43603228
40TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42456347
41POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.42456347
42E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.40327734
43AR_25329375_ChIP-Seq_VCAP_Human1.39912897
44MYC_18940864_ChIP-ChIP_HL60_Human1.39554166
45NR3C1_21868756_ChIP-Seq_MCF10A_Human1.37660827
46GATA3_21878914_ChIP-Seq_MCF-7_Human1.35024187
47AR_20517297_ChIP-Seq_VCAP_Human1.32310503
48STAT3_23295773_ChIP-Seq_U87_Human1.31600786
49SOX2_19829295_ChIP-Seq_ESCs_Human1.30795537
50NANOG_19829295_ChIP-Seq_ESCs_Human1.30795537
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30677498
52SMAD4_21799915_ChIP-Seq_A2780_Human1.30380811
53REST_21632747_ChIP-Seq_MESCs_Mouse1.29941797
54UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.28543653
55NCOR_22424771_ChIP-Seq_293T_Human1.26906199
56AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.25538410
57MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.25462184
58TDRD3_21172665_ChIP-Seq_MCF-7_Human1.24666525
59HOXB7_26014856_ChIP-Seq_BT474_Human1.24189645
60ERA_21632823_ChIP-Seq_H3396_Human1.23688496
61TCF4_22108803_ChIP-Seq_LS180_Human1.23458492
62TCF4_23295773_ChIP-Seq_U87_Human1.21248821
63GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20845285
64SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20188207
65JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.16800979
66MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16702189
67RUNX2_22187159_ChIP-Seq_PCA_Human1.16633428
68SMAD4_21741376_ChIP-Seq_EPCs_Human1.16362611
69VDR_23849224_ChIP-Seq_CD4+_Human1.14527652
70DROSHA_22980978_ChIP-Seq_HELA_Human1.14441835
71FOXA1_21572438_ChIP-Seq_LNCaP_Human1.13610738
72EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.13548364
73SMAD3_21741376_ChIP-Seq_EPCs_Human1.13502995
74CBX2_27304074_Chip-Seq_ESCs_Mouse1.13141874
75RNF2_27304074_Chip-Seq_NSC_Mouse1.11425026
76PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10228891
77MYC_19829295_ChIP-Seq_ESCs_Human1.10142803
78CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.09112350
79KLF5_20875108_ChIP-Seq_MESCs_Mouse1.08669425
80ETV2_25802403_ChIP-Seq_MESCs_Mouse1.08054523
81SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.07389262
82ETV1_20927104_ChIP-Seq_GIST48_Human1.03557943
83PCGF2_27294783_Chip-Seq_NPCs_Mouse1.02936383
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.02767916
85ELK1_19687146_ChIP-ChIP_HELA_Human1.01531361
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01352069
87AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01153055
88EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.01032288
89NANOG_20526341_ChIP-Seq_ESCs_Human1.00820847
90NFE2_27457419_Chip-Seq_LIVER_Mouse1.00060472
91TAF2_19829295_ChIP-Seq_ESCs_Human0.99560712
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96967262
93CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.96961214
94FOXH1_21741376_ChIP-Seq_EPCs_Human0.96862065
95SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96654997
96P53_21459846_ChIP-Seq_SAOS-2_Human0.95478707
97ETS1_20019798_ChIP-Seq_JURKAT_Human0.95007626
98SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.94786109
99PHF8_20622853_ChIP-Seq_HELA_Human0.93921426
100EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.93701012

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008875_abnormal_xenobiotic_pharmacok3.46054040
2MP0002653_abnormal_ependyma_morphology3.33622417
3MP0004043_abnormal_pH_regulation2.68120213
4MP0003136_yellow_coat_color2.62414015
5MP0005551_abnormal_eye_electrophysiolog2.32594946
6MP0004133_heterotaxia2.30500609
7MP0008877_abnormal_DNA_methylation2.13693731
8MP0001984_abnormal_olfaction2.12991389
9MP0002638_abnormal_pupillary_reflex2.09448617
10MP0003195_calcinosis2.07108285
11MP0002102_abnormal_ear_morphology2.00076319
12MP0001968_abnormal_touch/_nociception1.95757843
13MP0004142_abnormal_muscle_tone1.91776414
14MP0002876_abnormal_thyroid_physiology1.91631631
15MP0002160_abnormal_reproductive_system1.88986025
16MP0008872_abnormal_physiological_respon1.84139629
17MP0002277_abnormal_respiratory_mucosa1.82641196
18MP0005410_abnormal_fertilization1.82393257
19MP0009046_muscle_twitch1.78688781
20MP0008789_abnormal_olfactory_epithelium1.77077687
21MP0001485_abnormal_pinna_reflex1.73436124
22MP0005646_abnormal_pituitary_gland1.71061630
23MP0009745_abnormal_behavioral_response1.70933247
24MP0005253_abnormal_eye_physiology1.68566307
25MP0006292_abnormal_olfactory_placode1.68059115
26MP0006072_abnormal_retinal_apoptosis1.64777790
27MP0005377_hearing/vestibular/ear_phenot1.60999567
28MP0003878_abnormal_ear_physiology1.60999567
29MP0003880_abnormal_central_pattern1.58726392
30MP0006276_abnormal_autonomic_nervous1.58448241
31MP0002736_abnormal_nociception_after1.58001621
32MP0004885_abnormal_endolymph1.57770263
33MP0001986_abnormal_taste_sensitivity1.54487823
34MP0000569_abnormal_digit_pigmentation1.54333083
35MP0002272_abnormal_nervous_system1.51199719
36MP0005389_reproductive_system_phenotype1.47813872
37MP0002938_white_spotting1.47311343
38MP0002132_abnormal_respiratory_system1.46681462
39MP0003646_muscle_fatigue1.42546312
40MP0004147_increased_porphyrin_level1.41281833
41MP0002735_abnormal_chemical_nociception1.40629392
42MP0003011_delayed_dark_adaptation1.39593381
43MP0003698_abnormal_male_reproductive1.36024948
44MP0000372_irregular_coat_pigmentation1.35293490
45MP0000631_abnormal_neuroendocrine_gland1.33604961
46MP0001486_abnormal_startle_reflex1.31099940
47MP0000427_abnormal_hair_cycle1.28336601
48MP0001929_abnormal_gametogenesis1.27616011
49MP0003718_maternal_effect1.27409005
50MP0005645_abnormal_hypothalamus_physiol1.25472950
51MP0001529_abnormal_vocalization1.24865580
52MP0002837_dystrophic_cardiac_calcinosis1.24571650
53MP0002163_abnormal_gland_morphology1.24154360
54MP0005084_abnormal_gallbladder_morpholo1.23391168
55MP0002557_abnormal_social/conspecific_i1.23232939
56MP0002572_abnormal_emotion/affect_behav1.22983896
57MP0005423_abnormal_somatic_nervous1.22479310
58MP0005499_abnormal_olfactory_system1.20142734
59MP0005394_taste/olfaction_phenotype1.20142734
60MP0001970_abnormal_pain_threshold1.19263380
61MP0002734_abnormal_mechanical_nocicepti1.18915090
62MP0000383_abnormal_hair_follicle1.17500156
63MP0003787_abnormal_imprinting1.17160474
64MP0002909_abnormal_adrenal_gland1.16847123
65MP0005379_endocrine/exocrine_gland_phen1.15051294
66MP0001905_abnormal_dopamine_level1.14751632
67MP0002822_catalepsy1.14148057
68MP0000566_synostosis1.14032472
69MP0004019_abnormal_vitamin_homeostasis1.12344559
70MP0005195_abnormal_posterior_eye1.11106243
71MP0002928_abnormal_bile_duct1.10026163
72MP0000026_abnormal_inner_ear1.08918953
73MP0009780_abnormal_chondrocyte_physiolo1.08771880
74MP0002064_seizures1.08639666
75MP0001919_abnormal_reproductive_system1.07666925
76MP0004742_abnormal_vestibular_system1.07600579
77MP0002067_abnormal_sensory_capabilities1.02706858
78MP0003806_abnormal_nucleotide_metabolis1.00761896
79MP0002733_abnormal_thermal_nociception0.99490960
80MP0002210_abnormal_sex_determination0.97600567
81MP0001293_anophthalmia0.92335690
82MP0000049_abnormal_middle_ear0.91394247
83MP0002752_abnormal_somatic_nervous0.91037705
84MP0005083_abnormal_biliary_tract0.90384137
85MP0001324_abnormal_eye_pigmentation0.89954110
86MP0004145_abnormal_muscle_electrophysio0.89310115
87MP0005174_abnormal_tail_pigmentation0.87818763
88MP0001765_abnormal_ion_homeostasis0.87175487
89MP0008058_abnormal_DNA_repair0.86738512
90MP0001502_abnormal_circadian_rhythm0.86091993
91MP0008995_early_reproductive_senescence0.85692747
92MP0010386_abnormal_urinary_bladder0.84416483
93MP0001963_abnormal_hearing_physiology0.83975316
94MP0002229_neurodegeneration0.83714961
95MP0006036_abnormal_mitochondrial_physio0.83544794
96MP0002282_abnormal_trachea_morphology0.83264669
97MP0002063_abnormal_learning/memory/cond0.82180144
98MP0001501_abnormal_sleep_pattern0.81515275
99MP0000653_abnormal_sex_gland0.79256258
100MP0003283_abnormal_digestive_organ0.78260685

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory epithelium morphology (HP:0012253)6.87809415
2Abnormal respiratory motile cilium morphology (HP:0005938)6.87809415
3Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.87081397
4Dynein arm defect of respiratory motile cilia (HP:0012255)6.81471608
5Absent/shortened dynein arms (HP:0200106)6.81471608
6Abnormal ciliary motility (HP:0012262)6.52003881
7Abnormal respiratory motile cilium physiology (HP:0012261)6.49158399
8Rhinitis (HP:0012384)5.77879696
9Pancreatic fibrosis (HP:0100732)4.80893187
10Pancreatic cysts (HP:0001737)4.77856184
11True hermaphroditism (HP:0010459)4.69165108
12Abnormality of midbrain morphology (HP:0002418)4.61331859
13Molar tooth sign on MRI (HP:0002419)4.61331859
14Chronic bronchitis (HP:0004469)4.42902605
15Nephronophthisis (HP:0000090)4.28909718
16Bronchiectasis (HP:0002110)4.06849176
17Abnormality of the renal medulla (HP:0100957)3.53337835
18Cystic liver disease (HP:0006706)3.47360097
19Chronic hepatic failure (HP:0100626)3.38050222
20Medial flaring of the eyebrow (HP:0010747)3.25962169
21Occipital encephalocele (HP:0002085)3.15498665
22Congenital stationary night blindness (HP:0007642)2.90767340
23Nasal polyposis (HP:0100582)2.84686099
24Sclerocornea (HP:0000647)2.82594112
25Tubular atrophy (HP:0000092)2.82428763
26Abnormality of the renal cortex (HP:0011035)2.77007585
27Anencephaly (HP:0002323)2.74990675
28Gait imbalance (HP:0002141)2.72842503
29Aplasia/Hypoplasia of the tongue (HP:0010295)2.69502364
30Postaxial foot polydactyly (HP:0001830)2.65639872
31Congenital primary aphakia (HP:0007707)2.65117995
32Congenital hepatic fibrosis (HP:0002612)2.61141225
33Male pseudohermaphroditism (HP:0000037)2.58709667
34Chronic sinusitis (HP:0011109)2.58088742
35Furrowed tongue (HP:0000221)2.52610189
36Infertility (HP:0000789)2.48005696
37Nephrogenic diabetes insipidus (HP:0009806)2.47623393
38Abnormal drinking behavior (HP:0030082)2.42059042
39Polydipsia (HP:0001959)2.42059042
40Type II lissencephaly (HP:0007260)2.33752636
41Decreased circulating renin level (HP:0003351)2.28566955
42Attenuation of retinal blood vessels (HP:0007843)2.24980672
43Abnormal rod and cone electroretinograms (HP:0008323)2.24329361
44Bronchitis (HP:0012387)2.20573990
45Decreased central vision (HP:0007663)2.20362884
46Acute necrotizing encephalopathy (HP:0006965)2.16647592
47Abolished electroretinogram (ERG) (HP:0000550)2.09895294
48Abnormality of the nasal mucosa (HP:0000433)2.07601915
49Mitochondrial inheritance (HP:0001427)2.07281661
50Genital tract atresia (HP:0001827)2.06707115
51Recurrent sinusitis (HP:0011108)2.05547690
52Tubulointerstitial nephritis (HP:0001970)2.05361373
53Postaxial hand polydactyly (HP:0001162)2.02327727
54Vaginal atresia (HP:0000148)2.00770358
55Concave nail (HP:0001598)1.99467679
56Preaxial hand polydactyly (HP:0001177)1.95941858
57Bony spicule pigmentary retinopathy (HP:0007737)1.95886649
58Hyperventilation (HP:0002883)1.95730535
59Large for gestational age (HP:0001520)1.91912800
60Increased CSF lactate (HP:0002490)1.91618263
61Polyuria (HP:0000103)1.90368364
62Acute encephalopathy (HP:0006846)1.89202546
63Poor coordination (HP:0002370)1.88961626
64Congenital, generalized hypertrichosis (HP:0004540)1.88779265
65Pendular nystagmus (HP:0012043)1.88310046
66Abnormal mitochondria in muscle tissue (HP:0008316)1.86868394
67Oculomotor apraxia (HP:0000657)1.86821273
68Aplasia/Hypoplasia of the spleen (HP:0010451)1.83583661
69Bile duct proliferation (HP:0001408)1.82106636
70Abnormal biliary tract physiology (HP:0012439)1.82106636
71Abnormality of macular pigmentation (HP:0008002)1.82068422
72Progressive macrocephaly (HP:0004481)1.81808482
73Absent rod-and cone-mediated responses on ERG (HP:0007688)1.77590324
74Lipid accumulation in hepatocytes (HP:0006561)1.75564856
75Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.74724499
76Abnormality of alanine metabolism (HP:0010916)1.74724499
77Hyperalaninemia (HP:0003348)1.74724499
78Asplenia (HP:0001746)1.69570452
79Increased hepatocellular lipid droplets (HP:0006565)1.68667922
80Lissencephaly (HP:0001339)1.67524261
81Optic disc pallor (HP:0000543)1.67006073
823-Methylglutaconic aciduria (HP:0003535)1.65133769
83Methylmalonic acidemia (HP:0002912)1.62531915
84Abnormality of the pons (HP:0007361)1.61760620
85Aganglionic megacolon (HP:0002251)1.61194082
86Progressive cerebellar ataxia (HP:0002073)1.60844894
87Retinitis pigmentosa (HP:0000510)1.58668582
88Hypoplasia of the pons (HP:0012110)1.56748718
89Stage 5 chronic kidney disease (HP:0003774)1.56247313
90Renal cortical cysts (HP:0000803)1.55879170
91Multicystic kidney dysplasia (HP:0000003)1.55381818
92Broad-based gait (HP:0002136)1.53496223
93Abnormality of renal excretion (HP:0011036)1.53181967
94Hepatocellular necrosis (HP:0001404)1.52710361
95Tubulointerstitial abnormality (HP:0001969)1.52658197
96Decreased electroretinogram (ERG) amplitude (HP:0000654)1.51939961
97Hyperactive renin-angiotensin system (HP:0000841)1.51849067
98Cerebellar dysplasia (HP:0007033)1.51717109
99Hypothermia (HP:0002045)1.51637778
100Abnormal urine output (HP:0012590)1.51065781

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK154.71126965
2FRK4.10471844
3TLK13.47655813
4ADRBK23.04066793
5BMPR1B2.93874100
6WNK42.77316553
7ZAK2.58002395
8MAP4K22.45696686
9MST42.35896599
10GRK12.30973685
11WNK32.28159906
12PINK12.20991047
13PNCK2.15297432
14ACVR1B1.97671792
15NUAK11.96292730
16INSRR1.76412892
17STK161.73524396
18MAPK131.68869149
19NME11.64850677
20MAP3K41.58351318
21TAOK31.54718246
22CASK1.51654465
23STK391.49278576
24MAPKAPK31.46841540
25PLK41.44943080
26OXSR11.42028871
27VRK11.22777567
28VRK21.17883179
29DYRK21.11749190
30PTK2B1.09353417
31ADRBK11.06174088
32BRSK21.05321061
33PHKG21.03332850
34PHKG11.03332850
35PAK30.96970926
36PRKCG0.95427198
37MARK10.94981582
38MKNK20.94829922
39MAP2K70.91558192
40PRKCI0.88815673
41TXK0.85076380
42TNIK0.76912049
43TGFBR10.76451246
44PRKCE0.76295595
45BCR0.75461069
46DAPK20.74427601
47PLK20.74085159
48TRIM280.73145480
49CAMKK20.72525384
50WEE10.70547557
51TAF10.69270852
52ERBB30.68344466
53MUSK0.64489444
54TSSK60.63865247
55MAP2K60.63237400
56IRAK10.62647450
57SIK20.60433767
58CSNK1G20.60399716
59RPS6KA50.58509998
60BCKDK0.58492727
61MAPKAPK50.57634057
62PRKCQ0.56762919
63STK38L0.56619602
64ERBB20.53354777
65AKT30.50170652
66PLK10.49997214
67CCNB10.49970578
68PRKACA0.48121811
69CSNK1G30.47939923
70PKN10.47271939
71CAMK2A0.46410945
72CSNK1G10.46118271
73EPHA20.45240522
74TIE10.45180907
75NEK20.44302960
76PLK30.43738299
77MAP3K120.41725024
78CHEK20.41310943
79CDK80.41189178
80NTRK30.40875443
81STK110.40588640
82MAP2K40.40221249
83PRKCZ0.39093734
84CAMK10.38193248
85WNK10.37882763
86CHUK0.36597149
87PRKG10.36090577
88CSNK1A10.35799776
89PRKCA0.34754063
90NTRK20.33906816
91IKBKB0.33692590
92PIK3CA0.33650665
93PRKAA10.32520507
94ATR0.31732193
95CSNK1A1L0.30531145
96MKNK10.27085549
97STK30.26761548
98TEC0.26360292
99MAP3K70.23955122
100CSNK1D0.23953923

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.05844676
2Huntingtons disease_Homo sapiens_hsa050162.43916291
3Phototransduction_Homo sapiens_hsa047442.43372959
4Linoleic acid metabolism_Homo sapiens_hsa005912.33864156
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.30176937
6Parkinsons disease_Homo sapiens_hsa050122.29859680
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.28680970
8Chemical carcinogenesis_Homo sapiens_hsa052042.16412761
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.12545066
10Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.11866836
11Protein export_Homo sapiens_hsa030602.04494211
12Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.95158294
13Basal transcription factors_Homo sapiens_hsa030221.94623530
14Nicotine addiction_Homo sapiens_hsa050331.93099853
15Nitrogen metabolism_Homo sapiens_hsa009101.88390426
16Butanoate metabolism_Homo sapiens_hsa006501.86706531
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.82168649
18Caffeine metabolism_Homo sapiens_hsa002321.79572947
19Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.77975480
20Homologous recombination_Homo sapiens_hsa034401.75770789
21Selenocompound metabolism_Homo sapiens_hsa004501.73715833
22RNA polymerase_Homo sapiens_hsa030201.73315392
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.65963943
24Fanconi anemia pathway_Homo sapiens_hsa034601.65259813
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.62975493
26Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.60850210
27Alzheimers disease_Homo sapiens_hsa050101.56566210
28Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.56334491
29Histidine metabolism_Homo sapiens_hsa003401.56123421
30Ribosome_Homo sapiens_hsa030101.55207671
31Cardiac muscle contraction_Homo sapiens_hsa042601.46324426
32Tryptophan metabolism_Homo sapiens_hsa003801.41994792
33beta-Alanine metabolism_Homo sapiens_hsa004101.39050866
34Maturity onset diabetes of the young_Homo sapiens_hsa049501.38256602
35Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.34586551
36Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.34383508
37Retinol metabolism_Homo sapiens_hsa008301.33907343
38Peroxisome_Homo sapiens_hsa041461.31669158
39Olfactory transduction_Homo sapiens_hsa047401.28565738
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.25106955
41Collecting duct acid secretion_Homo sapiens_hsa049661.23353375
42Steroid hormone biosynthesis_Homo sapiens_hsa001401.22700800
43Ether lipid metabolism_Homo sapiens_hsa005651.20979549
44Taste transduction_Homo sapiens_hsa047421.17391787
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09256362
46Regulation of autophagy_Homo sapiens_hsa041401.08874785
47RNA degradation_Homo sapiens_hsa030181.06863658
48Tyrosine metabolism_Homo sapiens_hsa003501.05959566
49ABC transporters_Homo sapiens_hsa020101.04071920
50Nucleotide excision repair_Homo sapiens_hsa034201.03454825
51Propanoate metabolism_Homo sapiens_hsa006401.00754942
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.00286884
53Arachidonic acid metabolism_Homo sapiens_hsa005900.98759172
54Proteasome_Homo sapiens_hsa030500.90226350
55Purine metabolism_Homo sapiens_hsa002300.88630676
56Primary bile acid biosynthesis_Homo sapiens_hsa001200.87432719
57Morphine addiction_Homo sapiens_hsa050320.84337162
58Glutathione metabolism_Homo sapiens_hsa004800.83863690
59Phenylalanine metabolism_Homo sapiens_hsa003600.83261231
60One carbon pool by folate_Homo sapiens_hsa006700.82741489
61Sulfur relay system_Homo sapiens_hsa041220.82224671
62Pentose and glucuronate interconversions_Homo sapiens_hsa000400.76826387
63Metabolic pathways_Homo sapiens_hsa011000.75403631
64Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.74883926
65Intestinal immune network for IgA production_Homo sapiens_hsa046720.71622870
66Serotonergic synapse_Homo sapiens_hsa047260.71412069
67Pyrimidine metabolism_Homo sapiens_hsa002400.69999653
68Fatty acid degradation_Homo sapiens_hsa000710.69627506
69Insulin secretion_Homo sapiens_hsa049110.69405359
70Steroid biosynthesis_Homo sapiens_hsa001000.67469358
71Sulfur metabolism_Homo sapiens_hsa009200.66190129
72Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.64656312
73Circadian rhythm_Homo sapiens_hsa047100.64546227
74Glutamatergic synapse_Homo sapiens_hsa047240.64079386
75Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.63126089
76Circadian entrainment_Homo sapiens_hsa047130.59912423
77Salivary secretion_Homo sapiens_hsa049700.59850683
78GABAergic synapse_Homo sapiens_hsa047270.59609632
79Mismatch repair_Homo sapiens_hsa034300.52927226
80Glycerolipid metabolism_Homo sapiens_hsa005610.52916603
81Mineral absorption_Homo sapiens_hsa049780.52480401
82Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.52320989
83Ovarian steroidogenesis_Homo sapiens_hsa049130.52260215
84Calcium signaling pathway_Homo sapiens_hsa040200.49310619
85Folate biosynthesis_Homo sapiens_hsa007900.44906962
86Cocaine addiction_Homo sapiens_hsa050300.44528209
87Hedgehog signaling pathway_Homo sapiens_hsa043400.40211132
88Vitamin digestion and absorption_Homo sapiens_hsa049770.39698345
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.39306713
90Fatty acid biosynthesis_Homo sapiens_hsa000610.35839640
91Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.34487687
92Drug metabolism - other enzymes_Homo sapiens_hsa009830.34294838
93Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.33038780
94Non-homologous end-joining_Homo sapiens_hsa034500.32304687
95Glycerophospholipid metabolism_Homo sapiens_hsa005640.32068138
96Fat digestion and absorption_Homo sapiens_hsa049750.29972816
97Dopaminergic synapse_Homo sapiens_hsa047280.28618904
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.28147988
99Base excision repair_Homo sapiens_hsa034100.27726236
100Amphetamine addiction_Homo sapiens_hsa050310.27510669

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