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RHBDF1 (rhomboid 5 homolog 1)

Identity

Alias_namesC16orf8
chromosome 16 open reading frame 8
rhomboid family 1 (Drosophila)
rhomboid 5 homolog 1 (Drosophila)
Alias_symbol (synonym)EGFR-RS
FLJ2235
Dist1
iRhom1
Other aliasgene-89
gene-90
hDist1
HGNC (Hugo) RHBDF1
LocusID (NCBI) 64285
Atlas_Id 50317
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 58059 and ends at 72631 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CREBBP (16p13.3) / RHBDF1 (16p13.3)RHBDF1 (16p13.3) / RHBDF1 (16p13.3)RHBDF1 (16p13.3) / SPRR2A (1q21.3)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)RHBDF1   20561
Cards
Entrez_Gene (NCBI)RHBDF1  64285  rhomboid 5 homolog 1
AliasesC16orf8; Dist1; EGFR-RS; gene-89; 
gene-90; hDist1
GeneCards (Weizmann)RHBDF1
Ensembl hg19 (Hinxton)ENSG00000007384 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000007384 [Gene_View]  chr16:58059-72631 [Contig_View]  RHBDF1 [Vega]
ICGC DataPortalENSG00000007384
TCGA cBioPortalRHBDF1
AceView (NCBI)RHBDF1
Genatlas (Paris)RHBDF1
WikiGenes64285
SOURCE (Princeton)RHBDF1
Genetics Home Reference (NIH)RHBDF1
Genomic and cartography
GoldenPath hg38 (UCSC)RHBDF1  -     chr16:58059-72631 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHBDF1  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblRHBDF1 - 16p13.3 [CytoView hg19]  RHBDF1 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIRHBDF1 [Mapview hg19]  RHBDF1 [Mapview hg38]
OMIM614403   
Gene and transcription
Genbank (Entrez)AK026010 AK056708 AK225408 AK291177 AK304797
RefSeq transcript (Entrez)NM_022450
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHBDF1
Cluster EST : UnigeneHs.744992 [ NCBI ]
CGAP (NCI)Hs.744992
Alternative Splicing GalleryENSG00000007384
Gene ExpressionRHBDF1 [ NCBI-GEO ]   RHBDF1 [ EBI - ARRAY_EXPRESS ]   RHBDF1 [ SEEK ]   RHBDF1 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64285
GTEX Portal (Tissue expression)RHBDF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CC6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96CC6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96CC6
Splice isoforms : SwissVarQ96CC6
PhosPhoSitePlusQ96CC6
Domains : Interpro (EBI)Peptidase_S54_rhomboid    Peptidase_S54_rhomboid_dom    Rhomboid_SP   
Domain families : Pfam (Sanger)Rhomboid (PF01694)    Rhomboid_SP (PF12595)   
Domain families : Pfam (NCBI)pfam01694    pfam12595   
Conserved Domain (NCBI)RHBDF1
DMDM Disease mutations64285
Blocks (Seattle)RHBDF1
SuperfamilyQ96CC6
Human Protein AtlasENSG00000007384
Peptide AtlasQ96CC6
HPRD07027
IPIIPI00290292   IPI00852996   IPI00908677   IPI00607622   IPI00607663   IPI00878998   IPI00893231   IPI00924554   
Protein Interaction databases
DIP (DOE-UCLA)Q96CC6
IntAct (EBI)Q96CC6
FunCoupENSG00000007384
BioGRIDRHBDF1
STRING (EMBL)RHBDF1
ZODIACRHBDF1
Ontologies - Pathways
QuickGOQ96CC6
Ontology : AmiGOGolgi membrane  serine-type endopeptidase activity  endoplasmic reticulum membrane  cell proliferation  protein transport  integral component of membrane  cell migration  protein processing  growth factor binding  regulation of epidermal growth factor receptor signaling pathway  regulation of protein secretion  negative regulation of protein secretion  regulation of proteasomal protein catabolic process  
Ontology : EGO-EBIGolgi membrane  serine-type endopeptidase activity  endoplasmic reticulum membrane  cell proliferation  protein transport  integral component of membrane  cell migration  protein processing  growth factor binding  regulation of epidermal growth factor receptor signaling pathway  regulation of protein secretion  negative regulation of protein secretion  regulation of proteasomal protein catabolic process  
NDEx NetworkRHBDF1
Atlas of Cancer Signalling NetworkRHBDF1
Wikipedia pathwaysRHBDF1
Orthology - Evolution
OrthoDB64285
GeneTree (enSembl)ENSG00000007384
Phylogenetic Trees/Animal Genes : TreeFamRHBDF1
HOVERGENQ96CC6
HOGENOMQ96CC6
Homologs : HomoloGeneRHBDF1
Homology/Alignments : Family Browser (UCSC)RHBDF1
Gene fusions - Rearrangements
Fusion : MitelmanCREBBP/RHBDF1 [16p13.3/16p13.3]  [t(16;16)(p13;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDF1
dbVarRHBDF1
ClinVarRHBDF1
1000_GenomesRHBDF1 
Exome Variant ServerRHBDF1
ExAC (Exome Aggregation Consortium)RHBDF1 (select the gene name)
Genetic variants : HAPMAP64285
Genomic Variants (DGV)RHBDF1 [DGVbeta]
DECIPHERRHBDF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHBDF1 
Mutations
ICGC Data PortalRHBDF1 
TCGA Data PortalRHBDF1 
Broad Tumor PortalRHBDF1
OASIS PortalRHBDF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RHBDF1
DgiDB (Drug Gene Interaction Database)RHBDF1
DoCM (Curated mutations)RHBDF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDF1 (select a term)
intoGenRHBDF1
Cancer3DRHBDF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614403   
Orphanet
MedgenRHBDF1
Genetic Testing Registry RHBDF1
NextProtQ96CC6 [Medical]
TSGene64285
GENETestsRHBDF1
Target ValidationRHBDF1
Huge Navigator RHBDF1 [HugePedia]
snp3D : Map Gene to Disease64285
BioCentury BCIQRHBDF1
ClinGenRHBDF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64285
Chemical/Pharm GKB GenePA25563
Clinical trialRHBDF1
Miscellaneous
canSAR (ICR)RHBDF1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDF1
EVEXRHBDF1
GoPubMedRHBDF1
iHOPRHBDF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:12:59 CEST 2017

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