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RAPGEFL1 (Rap guanine nucleotide exchange factor like 1)

Identity

Alias_namesRAP guanine-nucleotide-exchange factor (GEF)-like 1
Rap guanine nucleotide exchange factor (GEF)-like 1
Alias_symbol (synonym)Link-GEFII
Other alias
HGNC (Hugo) RAPGEFL1
LocusID (NCBI) 51195
Atlas_Id 43447
Location 17q21.1  [Link to chromosome band 17q21]
Location_base_pair Starts at 40177010 and ends at 40195656 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDC6 (17q21.2) / RAPGEFL1 (17q21.1)PRRG4 (11p13) / RAPGEFL1 (17q21.1)RAPGEFL1 (17q21.1) / MAPT (17q21.31)
RAPGEFL1 (17q21.1) / NCL (2q37.1)WIPF2 (17q21.1) / RAPGEFL1 (17q21.1)PRRG4 11p13 / RAPGEFL1 17q21.1
RAPGEFL1 17q21.1 / MAPT 17q21.31WIPF2 17q21.1 / RAPGEFL1 17q21.1

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)RAPGEFL1   17428
Cards
Entrez_Gene (NCBI)RAPGEFL1  51195  Rap guanine nucleotide exchange factor like 1
AliasesLink-GEFII
GeneCards (Weizmann)RAPGEFL1
Ensembl hg19 (Hinxton)ENSG00000108352 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108352 [Gene_View]  chr17:40177010-40195656 [Contig_View]  RAPGEFL1 [Vega]
ICGC DataPortalENSG00000108352
TCGA cBioPortalRAPGEFL1
AceView (NCBI)RAPGEFL1
Genatlas (Paris)RAPGEFL1
WikiGenes51195
SOURCE (Princeton)RAPGEFL1
Genetics Home Reference (NIH)RAPGEFL1
Genomic and cartography
GoldenPath hg38 (UCSC)RAPGEFL1  -     chr17:40177010-40195656 +  17q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAPGEFL1  -     17q21.1   [Description]    (hg19-Feb_2009)
EnsemblRAPGEFL1 - 17q21.1 [CytoView hg19]  RAPGEFL1 - 17q21.1 [CytoView hg38]
Mapping of homologs : NCBIRAPGEFL1 [Mapview hg19]  RAPGEFL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF117946 AK294642 AK304160 AK313492 BC029956
RefSeq transcript (Entrez)NM_001303533 NM_001303534 NM_016339
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAPGEFL1
Cluster EST : UnigeneHs.632254 [ NCBI ]
CGAP (NCI)Hs.632254
Alternative Splicing GalleryENSG00000108352
Gene ExpressionRAPGEFL1 [ NCBI-GEO ]   RAPGEFL1 [ EBI - ARRAY_EXPRESS ]   RAPGEFL1 [ SEEK ]   RAPGEFL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RAPGEFL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51195
GTEX Portal (Tissue expression)RAPGEFL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHV5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHV5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHV5
Splice isoforms : SwissVarQ9UHV5
PhosPhoSitePlusQ9UHV5
Domaine pattern : Prosite (Expaxy)RASGEF_CAT (PS50009)   
Domains : Interpro (EBI)Ras_GEF_dom    RASGEF_cat_dom    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)RasGEF (PF00617)   
Domain families : Pfam (NCBI)pfam00617   
Domain families : Smart (EMBL)RasGEF (SM00147)  
Conserved Domain (NCBI)RAPGEFL1
DMDM Disease mutations51195
Blocks (Seattle)RAPGEFL1
PDB (SRS)2DHZ   
PDB (PDBSum)2DHZ   
PDB (IMB)2DHZ   
PDB (RSDB)2DHZ   
Structural Biology KnowledgeBase2DHZ   
SCOP (Structural Classification of Proteins)2DHZ   
CATH (Classification of proteins structures)2DHZ   
SuperfamilyQ9UHV5
Human Protein AtlasENSG00000108352
Peptide AtlasQ9UHV5
HPRD17954
IPIIPI00902883   IPI00008864   IPI00902722   IPI01026409   IPI01014300   IPI01014298   IPI01011262   IPI01011737   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHV5
IntAct (EBI)Q9UHV5
FunCoupENSG00000108352
BioGRIDRAPGEFL1
STRING (EMBL)RAPGEFL1
ZODIACRAPGEFL1
Ontologies - Pathways
QuickGOQ9UHV5
Ontology : AmiGOguanyl-nucleotide exchange factor activity  intracellular  G-protein coupled receptor signaling pathway  small GTPase mediated signal transduction  nervous system development  membrane  positive regulation of GTPase activity  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  intracellular  G-protein coupled receptor signaling pathway  small GTPase mediated signal transduction  nervous system development  membrane  positive regulation of GTPase activity  
NDEx NetworkRAPGEFL1
Atlas of Cancer Signalling NetworkRAPGEFL1
Wikipedia pathwaysRAPGEFL1
Orthology - Evolution
OrthoDB51195
GeneTree (enSembl)ENSG00000108352
Phylogenetic Trees/Animal Genes : TreeFamRAPGEFL1
HOVERGENQ9UHV5
HOGENOMQ9UHV5
Homologs : HomoloGeneRAPGEFL1
Homology/Alignments : Family Browser (UCSC)RAPGEFL1
Gene fusions - Rearrangements
Fusion : MitelmanPRRG4/RAPGEFL1 [11p13/17q21.1]  [t(11;17)(p13;q21)]  
Fusion : MitelmanRAPGEFL1/MAPT [17q21.1/17q21.31]  [t(17;17)(q21;q21)]  
Fusion : MitelmanWIPF2/RAPGEFL1 [17q21.1/17q21.1]  [t(17;17)(q21;q21)]  
Fusion: TCGAPRRG4 11p13 RAPGEFL1 17q21.1 BRCA
Fusion: TCGARAPGEFL1 17q21.1 MAPT 17q21.31 BRCA
Fusion: TCGAWIPF2 17q21.1 RAPGEFL1 17q21.1 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAPGEFL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAPGEFL1
dbVarRAPGEFL1
ClinVarRAPGEFL1
1000_GenomesRAPGEFL1 
Exome Variant ServerRAPGEFL1
ExAC (Exome Aggregation Consortium)RAPGEFL1 (select the gene name)
Genetic variants : HAPMAP51195
Genomic Variants (DGV)RAPGEFL1 [DGVbeta]
DECIPHERRAPGEFL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAPGEFL1 
Mutations
ICGC Data PortalRAPGEFL1 
TCGA Data PortalRAPGEFL1 
Broad Tumor PortalRAPGEFL1
OASIS PortalRAPGEFL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAPGEFL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAPGEFL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RAPGEFL1
DgiDB (Drug Gene Interaction Database)RAPGEFL1
DoCM (Curated mutations)RAPGEFL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAPGEFL1 (select a term)
intoGenRAPGEFL1
Cancer3DRAPGEFL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenRAPGEFL1
Genetic Testing Registry RAPGEFL1
NextProtQ9UHV5 [Medical]
TSGene51195
GENETestsRAPGEFL1
Target ValidationRAPGEFL1
Huge Navigator RAPGEFL1 [HugePedia]
snp3D : Map Gene to Disease51195
BioCentury BCIQRAPGEFL1
ClinGenRAPGEFL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51195
Chemical/Pharm GKB GenePA134884826
Clinical trialRAPGEFL1
Miscellaneous
canSAR (ICR)RAPGEFL1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAPGEFL1
EVEXRAPGEFL1
GoPubMedRAPGEFL1
iHOPRAPGEFL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:52:34 CEST 2017

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