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RALGPS1 (Ral GEF with PH domain and SH3 binding motif 1)

Identity

Alias_symbol (synonym)RALGPS1A
RALGEF2
KIAA0351
Other alias
HGNC (Hugo) RALGPS1
LocusID (NCBI) 9649
Atlas_Id 46957
Location 9q33.3  [Link to chromosome band 9q33]
Location_base_pair Starts at 126962225 and ends at 127217445 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCR (22q11.23) / RALGPS1 (9q33.3)NFIX (19p13.2) / RALGPS1 (9q33.3)PUM1 (1p35.2) / RALGPS1 (9q33.3)
RALGPS1 (9q33.3) / ENG (9q34.11)RALGPS1 (9q33.3) / EXOC6B (2p13.2)RALGPS1 (9q33.3) / MVB12B (9q33.3)
RALGPS1 (9q33.3) / TYRP1 (9p23)ZNF79 (9q33.3) / RALGPS1 (9q33.3)NFIX 19p13.2 / RALGPS1 9q33.3
RALGPS1 9q33.3 FAM125BRALGPS1 9q33.3 / TYRP1 9p23

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)RALGPS1   16851
Cards
Entrez_Gene (NCBI)RALGPS1  9649  Ral GEF with PH domain and SH3 binding motif 1
AliasesRALGEF2; RALGPS1A
GeneCards (Weizmann)RALGPS1
Ensembl hg19 (Hinxton)ENSG00000136828 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136828 [Gene_View]  chr9:126962225-127217445 [Contig_View]  RALGPS1 [Vega]
ICGC DataPortalENSG00000136828
TCGA cBioPortalRALGPS1
AceView (NCBI)RALGPS1
Genatlas (Paris)RALGPS1
WikiGenes9649
SOURCE (Princeton)RALGPS1
Genetics Home Reference (NIH)RALGPS1
Genomic and cartography
GoldenPath hg38 (UCSC)RALGPS1  -     chr9:126962225-127217445 +  9q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RALGPS1  -     9q33.3   [Description]    (hg19-Feb_2009)
EnsemblRALGPS1 - 9q33.3 [CytoView hg19]  RALGPS1 - 9q33.3 [CytoView hg38]
Mapping of homologs : NCBIRALGPS1 [Mapview hg19]  RALGPS1 [Mapview hg38]
OMIM614444   
Gene and transcription
Genbank (Entrez)AB002349 AF221098 AK299149 BC019329 BC032372
RefSeq transcript (Entrez)NM_001190728 NM_001190729 NM_001190730 NM_001322320 NM_001322321 NM_001322322 NM_001322323 NM_001322324 NM_001322325 NM_014636
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RALGPS1
Cluster EST : UnigeneHs.721343 [ NCBI ]
CGAP (NCI)Hs.721343
Alternative Splicing GalleryENSG00000136828
Gene ExpressionRALGPS1 [ NCBI-GEO ]   RALGPS1 [ EBI - ARRAY_EXPRESS ]   RALGPS1 [ SEEK ]   RALGPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)RALGPS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9649
GTEX Portal (Tissue expression)RALGPS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JS13   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JS13  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JS13
Splice isoforms : SwissVarQ5JS13
PhosPhoSitePlusQ5JS13
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RASGEF_CAT (PS50009)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Ras_GEF_dom    RASGEF_cat_dom   
Domain families : Pfam (Sanger)PH (PF00169)    RasGEF (PF00617)   
Domain families : Pfam (NCBI)pfam00169    pfam00617   
Domain families : Smart (EMBL)PH (SM00233)  RasGEF (SM00147)  
Conserved Domain (NCBI)RALGPS1
DMDM Disease mutations9649
Blocks (Seattle)RALGPS1
PDB (SRS)3QXL   
PDB (PDBSum)3QXL   
PDB (IMB)3QXL   
PDB (RSDB)3QXL   
Structural Biology KnowledgeBase3QXL   
SCOP (Structural Classification of Proteins)3QXL   
CATH (Classification of proteins structures)3QXL   
SuperfamilyQ5JS13
Human Protein AtlasENSG00000136828
Peptide AtlasQ5JS13
HPRD11479
IPIIPI00329517   IPI00942454   IPI00641854   IPI00166762   IPI00644546   IPI00103033   IPI00041588   IPI00641367   IPI00552147   
Protein Interaction databases
DIP (DOE-UCLA)Q5JS13
IntAct (EBI)Q5JS13
FunCoupENSG00000136828
BioGRIDRALGPS1
STRING (EMBL)RALGPS1
ZODIACRALGPS1
Ontologies - Pathways
QuickGOQ5JS13
Ontology : AmiGOguanyl-nucleotide exchange factor activity  cellular_component  cytoplasm  plasma membrane  small GTPase mediated signal transduction  Ral guanyl-nucleotide exchange factor activity  regulation of Ral protein signal transduction  intracellular signal transduction  positive regulation of GTPase activity  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  cellular_component  cytoplasm  plasma membrane  small GTPase mediated signal transduction  Ral guanyl-nucleotide exchange factor activity  regulation of Ral protein signal transduction  intracellular signal transduction  positive regulation of GTPase activity  
NDEx NetworkRALGPS1
Atlas of Cancer Signalling NetworkRALGPS1
Wikipedia pathwaysRALGPS1
Orthology - Evolution
OrthoDB9649
GeneTree (enSembl)ENSG00000136828
Phylogenetic Trees/Animal Genes : TreeFamRALGPS1
HOVERGENQ5JS13
HOGENOMQ5JS13
Homologs : HomoloGeneRALGPS1
Homology/Alignments : Family Browser (UCSC)RALGPS1
Gene fusions - Rearrangements
Fusion : MitelmanNFIX/RALGPS1 [19p13.2/9q33.3]  [t(9;19)(q33;p13)]  
Fusion : MitelmanRALGPS1/EXOC6B [9q33.3/2p13.2]  [t(2;9)(p13;q33)]  
Fusion : MitelmanRALGPS1/MVB12B [9q33.3/9q33.3]  [t(9;9)(q33;q33)]  
Fusion : MitelmanRALGPS1/TYRP1 [9q33.3/9p23]  [t(9;9)(p23;q33)]  
Fusion: TCGANFIX 19p13.2 RALGPS1 9q33.3 HNSC
Fusion: TCGARALGPS1 9q33.3 FAM125B BRCA
Fusion: TCGARALGPS1 9q33.3 TYRP1 9p23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRALGPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RALGPS1
dbVarRALGPS1
ClinVarRALGPS1
1000_GenomesRALGPS1 
Exome Variant ServerRALGPS1
ExAC (Exome Aggregation Consortium)RALGPS1 (select the gene name)
Genetic variants : HAPMAP9649
Genomic Variants (DGV)RALGPS1 [DGVbeta]
DECIPHERRALGPS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRALGPS1 
Mutations
ICGC Data PortalRALGPS1 
TCGA Data PortalRALGPS1 
Broad Tumor PortalRALGPS1
OASIS PortalRALGPS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRALGPS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRALGPS1
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 RALGPS1
DgiDB (Drug Gene Interaction Database)RALGPS1
DoCM (Curated mutations)RALGPS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RALGPS1 (select a term)
intoGenRALGPS1
Cancer3DRALGPS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614444   
Orphanet
MedgenRALGPS1
Genetic Testing Registry RALGPS1
NextProtQ5JS13 [Medical]
TSGene9649
GENETestsRALGPS1
Target ValidationRALGPS1
Huge Navigator RALGPS1 [HugePedia]
snp3D : Map Gene to Disease9649
BioCentury BCIQRALGPS1
ClinGenRALGPS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9649
Chemical/Pharm GKB GenePA134907502
Clinical trialRALGPS1
Miscellaneous
canSAR (ICR)RALGPS1 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRALGPS1
EVEXRALGPS1
GoPubMedRALGPS1
iHOPRALGPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:27:58 CEST 2017

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