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RHBDL1 (rhomboid, veinlet-like 1 (Drosophila))

Identity

Alias_namesRHBDL
rhomboid (veinlet, Drosophila)-like
rhomboid, veinlet-like 1 (Drosophila)
Alias_symbol (synonym)RRP
Other alias
HGNC (Hugo) RHBDL1
LocusID (NCBI) 9028
Atlas_Id 72624
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 725666 and ends at 728268 bp from pter ( according to hg19-Feb_2009)

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

 


External links

Nomenclature
HGNC (Hugo)RHBDL1   10007
Cards
Entrez_Gene (NCBI)RHBDL1  9028  rhomboid, veinlet-like 1 (Drosophila)
AliasesRHBDL; RRP
GeneCards (Weizmann)RHBDL1
Ensembl hg19 (Hinxton)ENSG00000103269 [Gene_View]  chr16:725666-728268 [Contig_View]  RHBDL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000103269 [Gene_View]  chr16:725666-728268 [Contig_View]  RHBDL1 [Vega]
ICGC DataPortalENSG00000103269
TCGA cBioPortalRHBDL1
AceView (NCBI)RHBDL1
Genatlas (Paris)RHBDL1
WikiGenes9028
SOURCE (Princeton)RHBDL1
Genetics Home Reference (NIH)RHBDL1
Genomic and cartography
GoldenPath hg19 (UCSC)RHBDL1  -     chr16:725666-728268 +  16p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RHBDL1  -     16p13.3   [Description]    (hg38-Dec_2013)
EnsemblRHBDL1 - 16p13.3 [CytoView hg19]  RHBDL1 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIRHBDL1 [Mapview hg19]  RHBDL1 [Mapview hg38]
OMIM603264   
Gene and transcription
Genbank (Entrez)AJ272344 AK294136 BC120874 BC120875 BI544995
RefSeq transcript (Entrez)NM_001278720 NM_001278721 NM_003961
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_034141 NT_010393 NW_004929400
Consensus coding sequences : CCDS (NCBI)RHBDL1
Cluster EST : UnigeneHs.137572 [ NCBI ]
CGAP (NCI)Hs.137572
Alternative Splicing GalleryENSG00000103269
Gene ExpressionRHBDL1 [ NCBI-GEO ]   RHBDL1 [ EBI - ARRAY_EXPRESS ]   RHBDL1 [ SEEK ]   RHBDL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9028
GTEX Portal (Tissue expression)RHBDL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75783   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75783  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75783
Splice isoforms : SwissVarO75783
Catalytic activity : Enzyme3.4.21.105 [ Enzyme-Expasy ]   3.4.21.1053.4.21.105 [ IntEnz-EBI ]   3.4.21.105 [ BRENDA ]   3.4.21.105 [ KEGG ]   
PhosPhoSitePlusO75783
Domains : Interpro (EBI)EF-hand-dom_pair    Peptidase_S54_rhomboid    Peptidase_S54_rhomboid_dom   
Domain families : Pfam (Sanger)Rhomboid (PF01694)   
Domain families : Pfam (NCBI)pfam01694   
Conserved Domain (NCBI)RHBDL1
DMDM Disease mutations9028
Blocks (Seattle)RHBDL1
SuperfamilyO75783
Human Protein AtlasENSG00000103269
Peptide AtlasO75783
HPRD07050
IPIIPI00022577   IPI00220135   IPI00911052   
Protein Interaction databases
DIP (DOE-UCLA)O75783
IntAct (EBI)O75783
FunCoupENSG00000103269
BioGRIDRHBDL1
STRING (EMBL)RHBDL1
ZODIACRHBDL1
Ontologies - Pathways
QuickGOO75783
Ontology : AmiGOserine-type endopeptidase activity  integral component of plasma membrane  signal transduction  membrane  protein processing  
Ontology : EGO-EBIserine-type endopeptidase activity  integral component of plasma membrane  signal transduction  membrane  protein processing  
NDEx NetworkRHBDL1
Atlas of Cancer Signalling NetworkRHBDL1
Wikipedia pathwaysRHBDL1
Orthology - Evolution
OrthoDB9028
GeneTree (enSembl)ENSG00000103269
Phylogenetic Trees/Animal Genes : TreeFamRHBDL1
HOVERGENO75783
HOGENOMO75783
Homologs : HomoloGeneRHBDL1
Homology/Alignments : Family Browser (UCSC)RHBDL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDL1
dbVarRHBDL1
ClinVarRHBDL1
1000_GenomesRHBDL1 
Exome Variant ServerRHBDL1
ExAC (Exome Aggregation Consortium)RHBDL1 (select the gene name)
Genetic variants : HAPMAP9028
Genomic Variants (DGV)RHBDL1 [DGVbeta]
DECIPHER (Syndromes)16:725666-728268  ENSG00000103269
CONAN: Copy Number AnalysisRHBDL1 
Mutations
ICGC Data PortalRHBDL1 
TCGA Data PortalRHBDL1 
Broad Tumor PortalRHBDL1
OASIS PortalRHBDL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RHBDL1
DgiDB (Drug Gene Interaction Database)RHBDL1
DoCM (Curated mutations)RHBDL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDL1 (select a term)
intoGenRHBDL1
Cancer3DRHBDL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603264   
Orphanet
MedgenRHBDL1
Genetic Testing Registry RHBDL1
NextProtO75783 [Medical]
TSGene9028
GENETestsRHBDL1
Huge Navigator RHBDL1 [HugePedia]
snp3D : Map Gene to Disease9028
BioCentury BCIQRHBDL1
ClinGenRHBDL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9028
Chemical/Pharm GKB GenePA34382
Clinical trialRHBDL1
Miscellaneous
canSAR (ICR)RHBDL1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDL1
EVEXRHBDL1
GoPubMedRHBDL1
iHOPRHBDL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:41:02 CET 2017

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