AutismKB 2.0

Annotation Detail for RPTOR


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Basic Information Top
Gene Symbol:RPTOR ( KIAA1303,KOG1,Mip1 )
Gene Full Name: regulatory associated protein of MTOR, complex 1
Band: 17q25.3
Quick LinksEntrez ID:57521; OMIM: 607130; Uniprot ID:RPTOR_HUMAN; ENSEMBL ID: ENSG00000141564; HGNC ID: 30287
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04910Insulin signaling pathway
hsa04150mTOR signaling pathway
Pathway IDPathway Name
Signaling by Insulin receptor
Pathway IDPathway Name
200032Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
200080mTOR signaling pathway
200061LKB1 signaling events
No data
Pathway IDPathway Name
500865mTOR signalling
500921S6K1-mediated signalling
500502Regulation of AMPK activity via LKB1
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2052Infection
2176Tuberous sclerosis
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D018038 Sodium Selenite Sodium Selenite results in increased expression of RPTOR mRNAincreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D019457 Chromosome Breakage Sodium Selenite 5.6615894690
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.3016285004
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 2.3915131321
MESH:D007333 Insulin Resistance Sodium Selenite 3.6014714311
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.7614737004
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3218760546
Pathway ID Pathway Name
KEGG:04910 Insulin signaling pathway
KEGG:04150 mTOR signaling pathway
REACT:498 Signaling by Insulin receptor
Pharmacogenomics Knowledge Base Top
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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