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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

Donate (in Euros)

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RASA1 (RAS p21 protein activator (GTPase activating protein) 1)

Identity

Other namesCM-AVM
CMAVM
GAP
PKWS
RASA
RASGAP
p120GAP
p120RASGAP
HGNC (Hugo) RASA1
LocusID (NCBI) 5921
Location 5q14.3
Location_base_pair Starts at 86564070 and ends at 86687743 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)RASA1   9871
Cards
Entrez_Gene (NCBI)RASA1  5921  RAS p21 protein activator (GTPase activating protein) 1
GeneCards (Weizmann)RASA1
Ensembl hg19 (Hinxton)ENSG00000145715 [Gene_View]  chr5:86564070-86687743 [Contig_View]  RASA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000145715 [Gene_View]  chr5:86564070-86687743 [Contig_View]  RASA1 [Vega]
ICGC DataPortalENSG00000145715
cBioPortalRASA1
AceView (NCBI)RASA1
Genatlas (Paris)RASA1
WikiGenes5921
SOURCE (Princeton)RASA1
Genomic and cartography
GoldenPath hg19 (UCSC)RASA1  -     chr5:86564070-86687743 +  5q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RASA1  -     5q14.3   [Description]    (hg38-Dec_2013)
EnsemblRASA1 - 5q14.3 [CytoView hg19]  RASA1 - 5q14.3 [CytoView hg38]
Mapping of homologs : NCBIRASA1 [Mapview hg19]  RASA1 [Mapview hg38]
OMIM139150   605462   608354   608355   
Gene and transcription
Genbank (Entrez)AB209106 AK300263 AK300269 AK300406 AK312739
RefSeq transcript (Entrez)NM_002890 NM_022650
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_011650 NT_034772 NW_001838951 NW_004929322
Consensus coding sequences : CCDS (NCBI)RASA1
Cluster EST : UnigeneHs.664080 [ NCBI ]
CGAP (NCI)Hs.664080
Alternative Splicing : Fast-db (Paris)GSHG0024086
Alternative Splicing GalleryENSG00000145715
Gene ExpressionRASA1 [ NCBI-GEO ]     RASA1 [ SEEK ]   RASA1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20936 (Uniprot)
NextProtP20936  [Medical]
With graphics : InterProP20936
Splice isoforms : SwissVarP20936 (Swissvar)
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    PH_DOMAIN (PS50003)    RAS_GTPASE_ACTIV_1 (PS00509)    RAS_GTPASE_ACTIV_2 (PS50018)    SH2 (PS50001)    SH3 (PS50002)   
Domains : Interpro (EBI)C2_dom    PH_like_dom    Pleckstrin_homology    RasGAP    RasGAP_CS    Rho_GTPase_activation_prot    SH2    SH3_domain   
Related proteins : CluSTrP20936
Domain families : Pfam (Sanger)C2 (PF00168)    PH (PF00169)    RasGAP (PF00616)    SH2 (PF00017)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00168    pfam00169    pfam00616    pfam00017    pfam00018   
Domain families : Smart (EMBL)C2 (SM00239)  PH (SM00233)  RasGAP (SM00323)  SH2 (SM00252)  SH3 (SM00326)  
DMDM Disease mutations5921
Blocks (Seattle)P20936
PDB (SRS)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
PDB (PDBSum)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
PDB (IMB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
PDB (RSDB)1WER    1WQ1    2GQI    2GSB    2J05    2J06    2M51    4FSS   
Human Protein AtlasENSG00000145715
Peptide AtlasP20936
HPRD00745
IPIIPI00026262   IPI00220356   IPI01010423   IPI00966095   IPI00966376   IPI00968139   
Protein Interaction databases
DIP (DOE-UCLA)P20936
IntAct (EBI)P20936
FunCoupENSG00000145715
BioGRIDRASA1
IntegromeDBRASA1
STRING (EMBL)RASA1
Ontologies - Pathways
QuickGOP20936
Ontology : AmiGOmitotic cytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  Ras GTPase activator activity  receptor binding  protein binding  cytoplasm  cytoplasm  cytosol  negative regulation of cell adhesion  signal transduction  regulation of cell shape  embryo development  potassium channel inhibitor activity  regulation of actin filament polymerization  intrinsic component of the cytoplasmic side of the plasma membrane  positive regulation of Ras GTPase activity  intracellular signal transduction  negative regulation of neuron apoptotic process  negative regulation of Ras protein signal transduction  GTPase binding  regulation of RNA metabolic process  
Ontology : EGO-EBImitotic cytokinesis  vasculogenesis  ruffle  glycoprotein binding  negative regulation of cell-matrix adhesion  Ras GTPase activator activity  receptor binding  protein binding  cytoplasm  cytoplasm  cytosol  negative regulation of cell adhesion  signal transduction  regulation of cell shape  embryo development  potassium channel inhibitor activity  regulation of actin filament polymerization  intrinsic component of the cytoplasmic side of the plasma membrane  positive regulation of Ras GTPase activity  intracellular signal transduction  negative regulation of neuron apoptotic process  negative regulation of Ras protein signal transduction  GTPase binding  regulation of RNA metabolic process  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]    PDGF Signaling Pathway [Genes]    T Cell Receptor Signaling Pathway [Genes]    Regulation of Splicing through Sam68 [Genes]    Signaling of Hepatocyte Growth Factor Receptor [Genes]    Sprouty regulation of tyrosine kinase signals [Genes]    Insulin Signaling Pathway [Genes]    TPO Signaling Pathway [Genes]    EGF Signaling Pathway [Genes]    IGF-1 Signaling Pathway [Genes]   
Pathways : KEGGMAPK signaling pathway    Ras signaling pathway    Axon guidance   
Protein Interaction DatabaseRASA1
DoCM (Curated mutations)RASA1
Wikipedia pathwaysRASA1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRASA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RASA1
dbVarRASA1
ClinVarRASA1
1000_GenomesRASA1 
Exome Variant ServerRASA1
SNP (GeneSNP Utah)RASA1
SNP : HGBaseRASA1
Genetic variants : HAPMAPRASA1
Genomic Variants (DGV)RASA1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000145715 
Somatic Mutations in Cancer : COSMICRASA1 
CONAN: Copy Number AnalysisRASA1 
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
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:86564070-86687743
Mutations and Diseases : HGMDRASA1
OMIM139150    605462    608354    608355   
MedgenRASA1
NextProtP20936 [Medical]
GENETestsRASA1
Disease Genetic AssociationRASA1
Huge Navigator RASA1 [HugePedia]  RASA1 [HugeCancerGEM]
snp3D : Map Gene to Disease5921
DGIdb (Drug Gene Interaction db)RASA1
General knowledge
Homologs : HomoloGeneRASA1
Homology/Alignments : Family Browser (UCSC)RASA1
Phylogenetic Trees/Animal Genes : TreeFamRASA1
Chemical/Protein Interactions : CTD5921
Chemical/Pharm GKB GenePA34232
Clinical trialRASA1
Cancer Resource (Charite)ENSG00000145715
Other databases
Probes
Litterature
PubMed183 Pubmed reference(s) in Entrez
CoreMineRASA1
GoPubMedRASA1
iHOPRASA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 14 18:15:38 CET 2015

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