Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RHEBL1 (RHEB like 1)

Identity

Alias_namesRas homolog enriched in brain like 1
Alias_symbol (synonym)MGC34869
FLJ25797
RHEB2
Other aliasRHEBL1c
HGNC (Hugo) RHEBL1
LocusID (NCBI) 121268
Atlas_Id 43465
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49064676 and ends at 49070025 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DHH (12q13.12) / RHEBL1 (12q13.12)KMT2B (19q13.12) / RHEBL1 (12q13.12)KMT2D (12q13.12) / RHEBL1 (12q13.12)
DHH 12q13.12 / RHEBL1 12q13.12MLL2 RHEBL1 12q13.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(12)(q13q13) DHH/RHEBL1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  KMT2D/RHEBL1 (12q13)

External links

Nomenclature
HGNC (Hugo)RHEBL1   21166
Cards
Entrez_Gene (NCBI)RHEBL1  121268  RHEB like 1
AliasesRHEBL1c
GeneCards (Weizmann)RHEBL1
Ensembl hg19 (Hinxton)ENSG00000167550 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167550 [Gene_View]  ENSG00000167550 [Sequence]  chr12:49064676-49070025 [Contig_View]  RHEBL1 [Vega]
ICGC DataPortalENSG00000167550
TCGA cBioPortalRHEBL1
AceView (NCBI)RHEBL1
Genatlas (Paris)RHEBL1
WikiGenes121268
SOURCE (Princeton)RHEBL1
Genetics Home Reference (NIH)RHEBL1
Genomic and cartography
GoldenPath hg38 (UCSC)RHEBL1  -     chr12:49064676-49070025 -  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHEBL1  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathRHEBL1 - 12q13.12 [CytoView hg19]  RHEBL1 - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000167550
Mapping of homologs : NCBIRHEBL1 [Mapview hg19]  RHEBL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI917432 AK098663 AY327412 AY509932 BC014155
RefSeq transcript (Entrez)NM_001303126 NM_144593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHEBL1
Cluster EST : UnigeneHs.159013 [ NCBI ]
CGAP (NCI)Hs.159013
Alternative Splicing GalleryENSG00000167550
Gene ExpressionRHEBL1 [ NCBI-GEO ]   RHEBL1 [ EBI - ARRAY_EXPRESS ]   RHEBL1 [ SEEK ]   RHEBL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RHEBL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)121268
GTEX Portal (Tissue expression)RHEBL1
Human Protein AtlasENSG00000167550-RHEBL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAI7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAI7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAI7
Splice isoforms : SwissVarQ8TAI7
PhosPhoSitePlusQ8TAI7
Domaine pattern : Prosite (Expaxy)RAS (PS51421)   
Domains : Interpro (EBI)P-loop_NTPase    Small_GTP-bd_dom    Small_GTPase    Small_GTPase_Ras   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Conserved Domain (NCBI)RHEBL1
DMDM Disease mutations121268
Blocks (Seattle)RHEBL1
PDB (RSDB)3OES   
PDB Europe3OES   
PDB (PDBSum)3OES   
PDB (IMB)3OES   
Structural Biology KnowledgeBase3OES   
SCOP (Structural Classification of Proteins)3OES   
CATH (Classification of proteins structures)3OES   
SuperfamilyQ8TAI7
Human Protein Atlas [tissue]ENSG00000167550-RHEBL1 [tissue]
Peptide AtlasQ8TAI7
HPRD15245
IPIIPI00152059   IPI00556561   IPI00942159   IPI01022942   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAI7
IntAct (EBI)Q8TAI7
FunCoupENSG00000167550
BioGRIDRHEBL1
STRING (EMBL)RHEBL1
ZODIACRHEBL1
Ontologies - Pathways
QuickGOQ8TAI7
Ontology : AmiGOGTPase activity  protein binding  GTP binding  GTP binding  cytoplasm  plasma membrane  small GTPase mediated signal transduction  endomembrane system  GDP binding  TOR signaling  metal ion binding  positive regulation of NF-kappaB transcription factor activity  
Ontology : EGO-EBIGTPase activity  protein binding  GTP binding  GTP binding  cytoplasm  plasma membrane  small GTPase mediated signal transduction  endomembrane system  GDP binding  TOR signaling  metal ion binding  positive regulation of NF-kappaB transcription factor activity  
NDEx NetworkRHEBL1
Atlas of Cancer Signalling NetworkRHEBL1
Wikipedia pathwaysRHEBL1
Orthology - Evolution
OrthoDB121268
GeneTree (enSembl)ENSG00000167550
Phylogenetic Trees/Animal Genes : TreeFamRHEBL1
HOGENOMQ8TAI7
Homologs : HomoloGeneRHEBL1
Homology/Alignments : Family Browser (UCSC)RHEBL1
Gene fusions - Rearrangements
Fusion : MitelmanDHH/RHEBL1 [12q13.12/12q13.12]  [del(12)(q13q13)]  
Fusion : MitelmanKMT2B/RHEBL1 [19q13.12/12q13.12]  [t(12;12)(q13;q13)]  
Fusion PortalMLL2 RHEBL1 12q13.12 OV
Fusion : QuiverRHEBL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHEBL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHEBL1
dbVarRHEBL1
ClinVarRHEBL1
1000_GenomesRHEBL1 
Exome Variant ServerRHEBL1
ExAC (Exome Aggregation Consortium)ENSG00000167550
GNOMAD BrowserENSG00000167550
Varsome BrowserRHEBL1
Genetic variants : HAPMAP121268
Genomic Variants (DGV)RHEBL1 [DGVbeta]
DECIPHERRHEBL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHEBL1 
Mutations
ICGC Data PortalRHEBL1 
TCGA Data PortalRHEBL1 
Broad Tumor PortalRHEBL1
OASIS PortalRHEBL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHEBL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRHEBL1
Mutations and Diseases : HGMDRHEBL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RHEBL1
DgiDB (Drug Gene Interaction Database)RHEBL1
DoCM (Curated mutations)RHEBL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHEBL1 (select a term)
intoGenRHEBL1
Cancer3DRHEBL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETRHEBL1
MedgenRHEBL1
Genetic Testing Registry RHEBL1
NextProtQ8TAI7 [Medical]
TSGene121268
GENETestsRHEBL1
Target ValidationRHEBL1
Huge Navigator RHEBL1 [HugePedia]
snp3D : Map Gene to Disease121268
BioCentury BCIQRHEBL1
ClinGenRHEBL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD121268
Chemical/Pharm GKB GenePA134984759
Clinical trialRHEBL1
Miscellaneous
canSAR (ICR)RHEBL1 (select the gene name)
DataMed IndexRHEBL1
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHEBL1
EVEXRHEBL1
GoPubMedRHEBL1
iHOPRHEBL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:04:54 CET 2019
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