Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RPH3A (rabphilin 3A)

Identity

Alias_namesrabphilin 3A homolog (mouse)
Alias_symbol (synonym)KIAA0985
rabphilin
exophilin-1
Other alias-
HGNC (Hugo) RPH3A
LocusID (NCBI) 22895
Atlas_Id 49943
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 112791744 and ends at 112898879 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
OAS3 (12q24.13) / RPH3A (12q24.13)PPIL3 (2q33.1) / RPH3A (12q24.13)OAS3 12q24.13 / RPH3A 12q24.13

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)RPH3A   17056
Cards
Entrez_Gene (NCBI)RPH3A  22895  rabphilin 3A
Aliases
GeneCards (Weizmann)RPH3A
Ensembl hg19 (Hinxton)ENSG00000089169 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000089169 [Gene_View]  chr12:112791744-112898879 [Contig_View]  RPH3A [Vega]
ICGC DataPortalENSG00000089169
TCGA cBioPortalRPH3A
AceView (NCBI)RPH3A
Genatlas (Paris)RPH3A
WikiGenes22895
SOURCE (Princeton)RPH3A
Genetics Home Reference (NIH)RPH3A
Genomic and cartography
GoldenPath hg38 (UCSC)RPH3A  -     chr12:112791744-112898879 +  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPH3A  -     12q24.13   [Description]    (hg19-Feb_2009)
EnsemblRPH3A - 12q24.13 [CytoView hg19]  RPH3A - 12q24.13 [CytoView hg38]
Mapping of homologs : NCBIRPH3A [Mapview hg19]  RPH3A [Mapview hg38]
OMIM612159   
Gene and transcription
Genbank (Entrez)AB023202 AK295696 AK296296 AK316112 BC002605
RefSeq transcript (Entrez)NM_001143854 NM_001347952 NM_001347953 NM_001347954 NM_001347955 NM_014954
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPH3A
Cluster EST : UnigeneHs.21239 [ NCBI ]
CGAP (NCI)Hs.21239
Alternative Splicing GalleryENSG00000089169
Gene ExpressionRPH3A [ NCBI-GEO ]   RPH3A [ EBI - ARRAY_EXPRESS ]   RPH3A [ SEEK ]   RPH3A [ MEM ]
Gene Expression Viewer (FireBrowse)RPH3A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22895
GTEX Portal (Tissue expression)RPH3A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2J0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2J0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2J0
Splice isoforms : SwissVarQ9Y2J0
PhosPhoSitePlusQ9Y2J0
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    RABBD (PS50916)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)C2_dom    Rab_BD    RPH3A    Synaptotagmin    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)C2 (PF00168)    FYVE_2 (PF02318)   
Domain families : Pfam (NCBI)pfam00168    pfam02318   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)RPH3A
DMDM Disease mutations22895
Blocks (Seattle)RPH3A
SuperfamilyQ9Y2J0
Human Protein AtlasENSG00000089169
Peptide AtlasQ9Y2J0
HPRD15273
IPIIPI00032227   IPI00796688   IPI01020785   IPI01021157   IPI01021018   IPI01022603   IPI01023045   IPI01022878   IPI01020898   IPI01022015   IPI01021869   IPI01022301   IPI01021587   IPI01022052   IPI01021879   IPI01022336   IPI01021479   IPI01021302   IPI01021743   IPI01010402   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2J0
IntAct (EBI)Q9Y2J0
FunCoupENSG00000089169
BioGRIDRPH3A
STRING (EMBL)RPH3A
ZODIACRPH3A
Ontologies - Pathways
QuickGOQ9Y2J0
Ontology : AmiGOcalcium ion binding  calcium ion binding  protein binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  phosphatidylinositol-4,5-bisphosphate binding  Golgi apparatus  cytosol  plasma membrane  intracellular protein transport  vesicle fusion  synaptic vesicle  zinc ion binding  selenium binding  Rab GTPase binding  regulation of calcium ion-dependent exocytosis  extrinsic component of membrane  syntaxin binding  cell junction  secretory granule  clathrin binding  synaptic vesicle membrane  protein complex binding  phosphate ion binding  neuron projection  protein complex  synapse  calcium ion-regulated exocytosis of neurotransmitter  inositol 1,4,5 trisphosphate binding  phosphatidylinositol phosphate binding  
Ontology : EGO-EBIcalcium ion binding  calcium ion binding  protein binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  phosphatidylinositol-4,5-bisphosphate binding  Golgi apparatus  cytosol  plasma membrane  intracellular protein transport  vesicle fusion  synaptic vesicle  zinc ion binding  selenium binding  Rab GTPase binding  regulation of calcium ion-dependent exocytosis  extrinsic component of membrane  syntaxin binding  cell junction  secretory granule  clathrin binding  synaptic vesicle membrane  protein complex binding  phosphate ion binding  neuron projection  protein complex  synapse  calcium ion-regulated exocytosis of neurotransmitter  inositol 1,4,5 trisphosphate binding  phosphatidylinositol phosphate binding  
NDEx NetworkRPH3A
Atlas of Cancer Signalling NetworkRPH3A
Wikipedia pathwaysRPH3A
Orthology - Evolution
OrthoDB22895
GeneTree (enSembl)ENSG00000089169
Phylogenetic Trees/Animal Genes : TreeFamRPH3A
HOVERGENQ9Y2J0
HOGENOMQ9Y2J0
Homologs : HomoloGeneRPH3A
Homology/Alignments : Family Browser (UCSC)RPH3A
Gene fusions - Rearrangements
Fusion : MitelmanOAS3/RPH3A [12q24.13/12q24.13]  [t(12;12)(q24;q24)]  
Fusion: TCGAOAS3 12q24.13 RPH3A 12q24.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPH3A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPH3A
dbVarRPH3A
ClinVarRPH3A
1000_GenomesRPH3A 
Exome Variant ServerRPH3A
ExAC (Exome Aggregation Consortium)RPH3A (select the gene name)
Genetic variants : HAPMAP22895
Genomic Variants (DGV)RPH3A [DGVbeta]
DECIPHERRPH3A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPH3A 
Mutations
ICGC Data PortalRPH3A 
TCGA Data PortalRPH3A 
Broad Tumor PortalRPH3A
OASIS PortalRPH3A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPH3A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPH3A
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 RPH3A
DgiDB (Drug Gene Interaction Database)RPH3A
DoCM (Curated mutations)RPH3A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPH3A (select a term)
intoGenRPH3A
Cancer3DRPH3A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612159   
Orphanet
MedgenRPH3A
Genetic Testing Registry RPH3A
NextProtQ9Y2J0 [Medical]
TSGene22895
GENETestsRPH3A
Huge Navigator RPH3A [HugePedia]
snp3D : Map Gene to Disease22895
BioCentury BCIQRPH3A
ClinGenRPH3A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22895
Chemical/Pharm GKB GenePA134886118
Clinical trialRPH3A
Miscellaneous
canSAR (ICR)RPH3A (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPH3A
EVEXRPH3A
GoPubMedRPH3A
iHOPRPH3A
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 : Fri May 19 12:35:28 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.