AutismKB 2.0

Annotation Detail for RFWD2


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Basic Information Top
Gene Symbol:RFWD2 ( COP1,FLJ10416,RNF200 )
Gene Full Name: ring finger and WD repeat domain 2
Band: 1q25.1-q25.2
Quick LinksEntrez ID:64326; OMIM: 608067; Uniprot ID:RFWD2_HUMAN; ENSEMBL ID: ENSG00000143207; HGNC ID: 17440
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04120Ubiquitin mediated proteolysis
hsa04115p53 signaling pathway
Pathway IDPathway Name
Cell Cycle Checkpoints
Pathway IDPathway Name
200175p53 pathway
200101Direct p53 effectors
Pathway IDPathway Name
P04392P53 pathway feedback loops 1
Pathway IDPathway Name
500317Autodegradation of the E3 ubiquitin ligase COP1
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of RFWD2 mRNAdecreases expression 20064835
20106945
D014415 Tunicamycin Tunicamycin results in increased expression of RFWD2 mRNAincreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0720464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.906695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.8419183758
MESH:D001321 Autistic Disorder marker/mechanism 19404257
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9817474063 20146248
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1520419170
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8720471113
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1821137059 20195826
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.576695378 18520028 20135361 18569708 18816296 20464547 20064080 17053015 20869020
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5716381670
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3611141357
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5510029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3217053015
Pathway ID Pathway Name
REACT:1538 Cell Cycle Checkpoints
KEGG:04115 p53 signaling pathway
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134952161
    • No data
    Releated disease ID Related disease Name
    PA153906318Autism Spectrum Disorder
    PA443890Diabetes Mellitus, Type 2
    PA445131Obesity
    No data
    Drug Bank Top

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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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