AutismKB 2.0

Annotation Detail for EXTL3


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Basic Information Top
Gene Symbol:EXTL3 ( BOTV,DKFZp686C2342,EXTR1,KIAA0519,REG,REGR,RPR )
Gene Full Name: exostoses (multiple)-like 3
Band: 8p21.1
Quick LinksEntrez ID:2137; OMIM: 605744; Uniprot ID:EXTL3_HUMAN; ENSEMBL ID: ENSG00000012232; HGNC ID: 3518
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6564heparan sulfate biosynthesis
PWY-6558heparan sulfate biosynthesis (late stages)
Pathway IDPathway Name
hsa00534Glycosaminoglycan biosynthesis - heparan sulfate
hsa01100Metabolic pathways
Pathway IDPathway Name
Diabetes pathways
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2053Colon cancer
2154Adenoma
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of EXTL3 mRNAdecreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EXTL3 mRNAaffects expression 16483693
D005419 Flavonoids Flavonoids results in increased expression of EXTL3 mRNAincreases expression 18035473
D019833 Genistein Genistein results in decreased expression of EXTL3 mRNAdecreases expression 16705744
D019812 Heparan Sulfate Proteoglycans EXTL3 protein results in increased chemical synthesis of Heparan Sulfate Proteoglycansincreases chemical synthesis 16221725
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D000230 Adenocarcinoma Genistein 2.5411473722
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
MESH:D001943 Breast Neoplasms Genistein 2.4916873071 17200150 16541309
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.233581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Genistein 3.2316924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D002318 Cardiovascular Diseases Genistein 3.5416332659
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.997505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.4119486331 9022650
MESH:D003110 Colonic Neoplasms Genistein 2.3317182828
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2818759878 8156756 8970840 12868966 11298694 11906362 14531868 2524372
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.892952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 2.5516647724
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.0318692083 9653073 18289764 8291058 6679447 11289319 1440618 9022650 18648102 7440962 9328219 6482804 16192314
MESH:D004714 Endometrial Hyperplasia Genistein 5.1316402032
MESH:D016889 Endometrial Neoplasms Genistein 3.5811473722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005909 Glioblastoma Genistein 3.4716598420
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D007249 Inflammation Flavonoids 2.8017296493
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.639022650 8074119
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.276582329
MESH:D007938 Leukemia Genistein 3.1718980019 17468513
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.409327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Genistein 2.0617823541
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.736587162 3712494 598648 1399818
MESH:D008325 Mammary Neoplasms, Experimental Genistein 3.1512929590 14578162
MESH:D009203 Myocardial Infarction Genistein 2.9817141266
MESH:D015428 Myocardial Reperfusion Injury Genistein 3.9317141266
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009421 Nervous System Malformations Genistein 4.4716427766
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.776482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D010024 Osteoporosis Genistein 3.4519401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.4916169203
MESH:D010051 Ovarian Neoplasms Genistein 2.6819005980
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D011471 Prostatic Neoplasms Genistein 3.4115378649 15256057 16925846
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.156582329 7505956 6587162 1399818 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.398074119
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
KEGG:00534 Glycosaminoglycan biosynthesis - heparan sulfate
KEGG:01100 Metabolic 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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