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RAPGEFL1 (Rap guanine nucleotide exchange factor like 1)

Identity

Alias (NCBI)Link-GEFII
HGNC (Hugo) RAPGEFL1
HGNC Alias symbLink-GEFII
HGNC Alias nameLink guanine nucleotide exchange factor II
HGNC Previous nameRAP guanine-nucleotide-exchange factor (GEF)-like 1
 Rap guanine nucleotide exchange factor (GEF)-like 1
LocusID (NCBI) 51195
Atlas_Id 43447
Location 17q21.1  [Link to chromosome band 17q21]
Location_base_pair Starts at 40177470 and ends at 40195650 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    Rap guanine nucleotide exchange factor like 1
AliasesLink-GEFII
GeneCards (Weizmann)RAPGEFL1
Ensembl hg19 (Hinxton)ENSG00000108352 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108352 [Gene_View]  ENSG00000108352 [Sequence]  chr17:40177470-40195650 [Contig_View]  RAPGEFL1 [Vega]
ICGC DataPortalENSG00000108352
TCGA cBioPortalRAPGEFL1
AceView (NCBI)RAPGEFL1
Genatlas (Paris)RAPGEFL1
SOURCE (Princeton)RAPGEFL1
Genetics Home Reference (NIH)RAPGEFL1
Genomic and cartography
GoldenPath hg38 (UCSC)RAPGEFL1  -     chr17:40177470-40195650 +  17q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAPGEFL1  -     17q21.1   [Description]    (hg19-Feb_2009)
GoldenPathRAPGEFL1 - 17q21.1 [CytoView hg19]  RAPGEFL1 - 17q21.1 [CytoView hg38]
ImmunoBaseENSG00000108352
Genome Data Viewer NCBIRAPGEFL1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AF117946 AK294642 AK304160 AK313492 BC029956
RefSeq transcript (Entrez)NM_001303533 NM_001303534 NM_016339
Consensus coding sequences : CCDS (NCBI)RAPGEFL1
Gene ExpressionRAPGEFL1 [ NCBI-GEO ]   RAPGEFL1 [ EBI - ARRAY_EXPRESS ]   RAPGEFL1 [ SEEK ]   RAPGEFL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RAPGEFL1 [ Firebrowse - Broad ]
GenevisibleExpression of RAPGEFL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51195
GTEX Portal (Tissue expression)RAPGEFL1
Human Protein AtlasENSG00000108352-RAPGEFL1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UHV5
Domaine pattern : Prosite (Expaxy)RASGEF_CAT (PS50009)   
Domains : Interpro (EBI)Ras-like_GEF    Ras_GEF_dom_sf    RASGEF_cat_dom    RASGEF_cat_dom_sf    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)RasGEF (PF00617)   
Domain families : Pfam (NCBI)pfam00617   
Domain families : Smart (EMBL)RasGEF (SM00147)  
Conserved Domain (NCBI)RAPGEFL1
PDB (RSDB)2DHZ   
PDB Europe2DHZ   
PDB (PDBSum)2DHZ   
PDB (IMB)2DHZ   
Structural Biology KnowledgeBase2DHZ   
SCOP (Structural Classification of Proteins)2DHZ   
CATH (Classification of proteins structures)2DHZ   
SuperfamilyQ9UHV5
AlphaFold pdb e-kbQ9UHV5   
Human Protein Atlas [tissue]ENSG00000108352-RAPGEFL1 [tissue]
HPRD17954
Protein Interaction databases
DIP (DOE-UCLA)Q9UHV5
IntAct (EBI)Q9UHV5
BioGRIDRAPGEFL1
STRING (EMBL)RAPGEFL1
ZODIACRAPGEFL1
Ontologies - Pathways
QuickGOQ9UHV5
Ontology : AmiGOguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  plasma membrane  G protein-coupled receptor signaling pathway  small GTPase mediated signal transduction  Ras protein signal transduction  nervous system development  membrane  positive regulation of GTPase activity  regulation of catalytic activity  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  plasma membrane  G protein-coupled receptor signaling pathway  small GTPase mediated signal transduction  Ras protein signal transduction  nervous system development  membrane  positive regulation of GTPase activity  regulation of catalytic activity  
NDEx NetworkRAPGEFL1
Atlas of Cancer Signalling NetworkRAPGEFL1
Wikipedia pathwaysRAPGEFL1
Orthology - Evolution
OrthoDB51195
GeneTree (enSembl)ENSG00000108352
Phylogenetic Trees/Animal Genes : TreeFamRAPGEFL1
Homologs : HomoloGeneRAPGEFL1
Homology/Alignments : Family Browser (UCSC)RAPGEFL1
Gene fusions - Rearrangements
Fusion : MitelmanPRRG4::RAPGEFL1 [11p13/17q21.1]  
Fusion : MitelmanRAPGEFL1::MAPT [17q21.1/17q21.31]  
Fusion : MitelmanWIPF2::RAPGEFL1 [17q21.1/17q21.1]  
Fusion : QuiverRAPGEFL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAPGEFL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAPGEFL1
dbVarRAPGEFL1
ClinVarRAPGEFL1
MonarchRAPGEFL1
1000_GenomesRAPGEFL1 
Exome Variant ServerRAPGEFL1
GNOMAD BrowserENSG00000108352
Varsome BrowserRAPGEFL1
ACMGRAPGEFL1 variants
VarityQ9UHV5
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]  
Somatic Mutations in Cancer : COSMIC3DRAPGEFL1
Mutations and Diseases : HGMDRAPGEFL1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRAPGEFL1
DgiDB (Drug Gene Interaction Database)RAPGEFL1
DoCM (Curated mutations)RAPGEFL1
CIViC (Clinical Interpretations of Variants in Cancer)RAPGEFL1
Cancer3DRAPGEFL1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETRAPGEFL1
MedgenRAPGEFL1
Genetic Testing Registry RAPGEFL1
NextProtQ9UHV5 [Medical]
GENETestsRAPGEFL1
Target ValidationRAPGEFL1
Huge Navigator RAPGEFL1 [HugePedia]
ClinGenRAPGEFL1
Clinical trials, drugs, therapy
MyCancerGenomeRAPGEFL1
Protein Interactions : CTDRAPGEFL1
Pharm GKB GenePA134884826
PharosQ9UHV5
Clinical trialRAPGEFL1
Miscellaneous
canSAR (ICR)RAPGEFL1
HarmonizomeRAPGEFL1
ARCHS4RAPGEFL1
DataMed IndexRAPGEFL1
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRAPGEFL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:55:24 CET 2022

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