AutismKB 2.0

Annotation Detail for POMP


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Basic Information Top
Gene Symbol:POMP ( C13orf12,PNAS-110,UMP1 )
Gene Full Name: proteasome maturation protein
Band: 13q12.3
Quick LinksEntrez ID:51371; OMIM: 613386; Uniprot ID:POMP_HUMAN; ENSEMBL ID: ENSG00000132963; HGNC ID: 20330
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002084 Butylated Hydroxytoluene Butylated Hydroxytoluene results in increased expression of POMP mRNAincreases expression 12082028
D016572 Cyclosporine Cyclosporine results in increased expression of POMP mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of POMP mRNAincreases expression 12082028
D007657 Ketone Bodies Ketone Bodies results in increased expression of POMP mRNAincreases expression 16807920
D010634 Phenobarbital Phenobarbital results in increased expression of POMP mRNAincreases expression 12082028
C031280 pyrazole pyrazole results in increased expression of POMP mRNAincreases expression 17945193
D013749 Tetrachlorodibenzodioxin AHR protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of POMP mRNA]affects reaction|increases expression 16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of POMP mRNAincreases expression 18796159
16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of POMP mRNAincreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.656195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.6515322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.4417620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.4416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.941701930 20007298 20935162 17173139 6705139
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7112371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.614080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Cyclosporine 8.4619486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.4616919318 11677210 17110522 17681005 15861022 17333356 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2016354765 12621046 15668235 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury pyrazole 4.3012499123
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.3020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004421 Dystonia Phenobarbital 4.311851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.473659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.313922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.796401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.617750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.413659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Cyclosporine 8.5319224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5315345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Cyclosporine 9.7012168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.7020067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Phenobarbital 9.6616109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.6615340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 18606429 15340226 16959395 16354765
MESH:D006967 Hypersensitivity Butylated Hydroxytoluene 4.7717604070
MESH:D006973 Hypertension Cyclosporine 5.2410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2418850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
OMIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA marker/mechanism
MESH:D007674 Kidney Diseases Cyclosporine 2.4818776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9712371664
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0321047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Phenobarbital 2.2219363144
MESH:D008113 Liver Neoplasms Butylated Hydroxytoluene 8.0818177683
MESH:D008113 Liver Neoplasms Phenobarbital 8.088742319 19073162 21047994 19812893 19482888 15975961
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0816984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.3317172636 2563599 6150874 18308698 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3312151625
MESH:D008175 Lung Neoplasms Butylated Hydroxytoluene 2.7318597497 16337739 19925653 11246140 11696405 15390079 19359593
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.7319555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Butylated Hydroxytoluene 3.911500032
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8717484760
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D010018 Osteomalacia Phenobarbital 4.7617016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5716965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D011014 Pneumonia Butylated Hydroxytoluene 5.5611893704
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.8112371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.812563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911896295 11399792 11118676 11222880
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D019310 Pseudolymphoma Phenobarbital 4.9412752131
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012640 Seizures Phenobarbital 2.874039156 3137016 11442880 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.226407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
MESH:D013733 Testicular Diseases pyrazole 5.216499806
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.261399818
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
Pathway ID Pathway Name
KEGG:03050 Proteasome
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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