AutismKB 2.0

Annotation Detail for DGCR8


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Basic Information Top
Gene Symbol:DGCR8 ( C22orf12,DGCRK6,Gy1,pasha )
Gene Full Name: DiGeorge syndrome critical region gene 8
Band: 22q11.21
Quick LinksEntrez ID:54487; OMIM: 609030; Uniprot ID:DGCR8_HUMAN; ENSEMBL ID: ENSG00000128191; HGNC ID: 2847
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Regulatory RNA pathways
Pathway IDPathway Name
200101Direct p53 effectors
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of DGCR8 mRNAaffects expression 21346803
C051890 irinotecan irinotecan analog results in decreased expression of DGCR8 mRNAdecreases expression 18927307
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of DGCR8 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of DGCR8 mRNAaffects binding|increases activity|increases expression 19710929
D012643 Selenium [Selenium co-treated with Vitamin E] results in increased expression of DGCR8 mRNAaffects cotreatment|increases expression 19244175
D012643 Selenium Selenium results in increased expression of DGCR8 mRNAincreases expression 19244175
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in increased expression of DGCR8 mRNAaffects cotreatment|increases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.4116050911
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7816705839
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D003092 Colitis Selenium 4.2617936198
MESH:D003110 Colonic Neoplasms irinotecan 2.6417287894 17725105
MESH:D015179 Colorectal Neoplasms irinotecan 2.3616391804 16303861 18259882 17454858 17159606 15273666 18509181
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.2118551238 21346803
MESH:D056486 Drug-Induced Liver Injury Selenium 4.2115131321
MESH:C538011 Eales disease Vitamin E 5.329068938
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1516080930
MESH:D006333 Heart Failure pirinixic acid 7.6220558911
MESH:D006333 Heart Failure Selenium 7.6217162251
MESH:D006529 Hepatomegaly pirinixic acid 3.4818467677 19772884 19176532 16221962
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8016863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.5814716179
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007251 Influenza, Human Selenium 13.0916624496
MESH:D007251 Influenza, Human Vitamin E 13.0916624496
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007674 Kidney Diseases Vitamin E 2.9812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.2616518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2816705839
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4615474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4616169303
MESH:D008113 Liver Neoplasms pirinixic acid 1.9215890375 20007298 16377806
MESH:D008171 Lung Diseases Vitamin E 3.4016863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9715318939
MESH:D001523 Mental Disorders marker/mechanism 18469815
MESH:D008654 Mesothelioma Selenium 2.9015107826
MESH:D052016 Mucositis irinotecan 5.5517159606
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009362 Neoplasm Metastasis irinotecan 3.2818259882
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009447 Neuroblastoma irinotecan 3.648761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.278761367
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7812819281 16049721
MESH:D010954 Plasmacytoma Selenium 5.5015087411
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D012871 Skin Diseases Vitamin E 2.5118709164
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D020521 Stroke Vitamin E 3.8116517955
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
Pathway ID Pathway Name
REACT:12472 Regulatory RNA pathways
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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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