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RABEPK (Rab9 effector protein with kelch motifs)

Identity

Alias_symbol (synonym)RAB9P40
bA65N13.1
Other aliasp40
HGNC (Hugo) RABEPK
LocusID (NCBI) 10244
Atlas_Id 72460
Location 9q33.3  [Link to chromosome band 9q33]
Location_base_pair Starts at 125200542 and ends at 125234159 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RABEPK (9q33.3) / RABEPK (9q33.3)

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

 


External links

Nomenclature
HGNC (Hugo)RABEPK   16896
Cards
Entrez_Gene (NCBI)RABEPK  10244  Rab9 effector protein with kelch motifs
AliasesRAB9P40; bA65N13.1; p40
GeneCards (Weizmann)RABEPK
Ensembl hg19 (Hinxton)ENSG00000136933 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136933 [Gene_View]  chr9:125200542-125234159 [Contig_View]  RABEPK [Vega]
ICGC DataPortalENSG00000136933
TCGA cBioPortalRABEPK
AceView (NCBI)RABEPK
Genatlas (Paris)RABEPK
WikiGenes10244
SOURCE (Princeton)RABEPK
Genetics Home Reference (NIH)RABEPK
Genomic and cartography
GoldenPath hg38 (UCSC)RABEPK  -     chr9:125200542-125234159 +  9q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RABEPK  -     9q33.3   [Description]    (hg19-Feb_2009)
EnsemblRABEPK - 9q33.3 [CytoView hg19]  RABEPK - 9q33.3 [CytoView hg38]
Mapping of homologs : NCBIRABEPK [Mapview hg19]  RABEPK [Mapview hg38]
OMIM605962   
Gene and transcription
Genbank (Entrez)AK290768 AL832249 BC000503 BC047023 BC053541
RefSeq transcript (Entrez)NM_001174152 NM_001174153 NM_005833
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RABEPK
Cluster EST : UnigeneHs.19012 [ NCBI ]
CGAP (NCI)Hs.19012
Alternative Splicing GalleryENSG00000136933
Gene ExpressionRABEPK [ NCBI-GEO ]   RABEPK [ EBI - ARRAY_EXPRESS ]   RABEPK [ SEEK ]   RABEPK [ MEM ]
Gene Expression Viewer (FireBrowse)RABEPK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10244
GTEX Portal (Tissue expression)RABEPK
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6M1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6M1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6M1
Splice isoforms : SwissVarQ7Z6M1
PhosPhoSitePlusQ7Z6M1
Domains : Interpro (EBI)Kelch-typ_b-propeller    Kelch_1    Kelch_2   
Domain families : Pfam (Sanger)Kelch_1 (PF01344)    Kelch_2 (PF07646)   
Domain families : Pfam (NCBI)pfam01344    pfam07646   
Conserved Domain (NCBI)RABEPK
DMDM Disease mutations10244
Blocks (Seattle)RABEPK
SuperfamilyQ7Z6M1
Human Protein AtlasENSG00000136933
Peptide AtlasQ7Z6M1
HPRD09337
IPIIPI00639811   IPI00384623   IPI00646362   IPI00514688   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6M1
IntAct (EBI)Q7Z6M1
FunCoupENSG00000136933
BioGRIDRABEPK
STRING (EMBL)RABEPK
ZODIACRABEPK
Ontologies - Pathways
QuickGOQ7Z6M1
Ontology : AmiGOendosome  cytosol  receptor-mediated endocytosis  vesicle docking involved in exocytosis  endosome membrane  transport vesicle  trans-Golgi network membrane  
Ontology : EGO-EBIendosome  cytosol  receptor-mediated endocytosis  vesicle docking involved in exocytosis  endosome membrane  transport vesicle  trans-Golgi network membrane  
NDEx NetworkRABEPK
Atlas of Cancer Signalling NetworkRABEPK
Wikipedia pathwaysRABEPK
Orthology - Evolution
OrthoDB10244
GeneTree (enSembl)ENSG00000136933
Phylogenetic Trees/Animal Genes : TreeFamRABEPK
HOVERGENQ7Z6M1
HOGENOMQ7Z6M1
Homologs : HomoloGeneRABEPK
Homology/Alignments : Family Browser (UCSC)RABEPK
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRABEPK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RABEPK
dbVarRABEPK
ClinVarRABEPK
1000_GenomesRABEPK 
Exome Variant ServerRABEPK
ExAC (Exome Aggregation Consortium)RABEPK (select the gene name)
Genetic variants : HAPMAP10244
Genomic Variants (DGV)RABEPK [DGVbeta]
DECIPHERRABEPK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRABEPK 
Mutations
ICGC Data PortalRABEPK 
TCGA Data PortalRABEPK 
Broad Tumor PortalRABEPK
OASIS PortalRABEPK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRABEPK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRABEPK
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 RABEPK
DgiDB (Drug Gene Interaction Database)RABEPK
DoCM (Curated mutations)RABEPK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RABEPK (select a term)
intoGenRABEPK
Cancer3DRABEPK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605962   
Orphanet
MedgenRABEPK
Genetic Testing Registry RABEPK
NextProtQ7Z6M1 [Medical]
TSGene10244
GENETestsRABEPK
Target ValidationRABEPK
Huge Navigator RABEPK [HugePedia]
snp3D : Map Gene to Disease10244
BioCentury BCIQRABEPK
ClinGenRABEPK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10244
Chemical/Pharm GKB GenePA142671100
Clinical trialRABEPK
Miscellaneous
canSAR (ICR)RABEPK (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRABEPK
EVEXRABEPK
GoPubMedRABEPK
iHOPRABEPK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:38:06 CEST 2017

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