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ARHGEF10L (Rho guanine nucleotide exchange factor 10 like)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 10-like
Alias_symbol (synonym)FLJ10521
KIAA1626
Other aliasGrinchGEF
HGNC (Hugo) ARHGEF10L
LocusID (NCBI) 55160
Atlas_Id 40584
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 17539835 and ends at 17697875 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)
ARHGEF10L (1p36.13) / CSDE1 (1p13.2)ARHGEF10L (1p36.13) / LGALS4 (19q13.2)ARHGEF10L (1p36.13) / PADI4 (1p36.13)
ARHGEF10L (1p36.13) / ZNF595 (4p16.3)CTNND1 (11q12.1) / ARHGEF10L (1p36.13)IGFBP5 (2q35) / ARHGEF10L (1p36.13)
IGSF9B (11q25) / ARHGEF10L (1p36.13)LGALS4 (19q13.2) / ARHGEF10L (1p36.13)MYD88 (3p22.2) / ARHGEF10L (1p36.13)
MYH10 (17p13.1) / ARHGEF10L (1p36.13)ARHGEF10L 1p36.13 / CSDE1 1p13.2ARHGEF10L 1p36.13 / PADI4 1p36.13

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;1)(p13;p36) ARHGEF10L/CSDE1
ARHGEF10L/PADI4 (1p36)

External links

Nomenclature
HGNC (Hugo)ARHGEF10L   25540
Cards
Entrez_Gene (NCBI)ARHGEF10L  55160  Rho guanine nucleotide exchange factor 10 like
AliasesGrinchGEF
GeneCards (Weizmann)ARHGEF10L
Ensembl hg19 (Hinxton)ENSG00000074964 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000074964 [Gene_View]  ENSG00000074964 [Sequence]  chr1:17539835-17697875 [Contig_View]  ARHGEF10L [Vega]
ICGC DataPortalENSG00000074964
TCGA cBioPortalARHGEF10L
AceView (NCBI)ARHGEF10L
Genatlas (Paris)ARHGEF10L
WikiGenes55160
SOURCE (Princeton)ARHGEF10L
Genetics Home Reference (NIH)ARHGEF10L
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF10L  -     chr1:17539835-17697875 +  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF10L  -     1p36.13   [Description]    (hg19-Feb_2009)
EnsemblARHGEF10L - 1p36.13 [CytoView hg19]  ARHGEF10L - 1p36.13 [CytoView hg38]
Mapping of homologs : NCBIARHGEF10L [Mapview hg19]  ARHGEF10L [Mapview hg38]
OMIM612494   
Gene and transcription
Genbank (Entrez)AB046846 AK001383 AK092020 AK123471 AK126877
RefSeq transcript (Entrez)NM_001011722 NM_001319837 NM_001319838 NM_001328124 NM_018125
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF10L
Cluster EST : UnigeneHs.443460 [ NCBI ]
CGAP (NCI)Hs.443460
Alternative Splicing GalleryENSG00000074964
Gene ExpressionARHGEF10L [ NCBI-GEO ]   ARHGEF10L [ EBI - ARRAY_EXPRESS ]   ARHGEF10L [ SEEK ]   ARHGEF10L [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF10L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55160
GTEX Portal (Tissue expression)ARHGEF10L
Human Protein AtlasENSG00000074964-ARHGEF10L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCE6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCE6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCE6
Splice isoforms : SwissVarQ9HCE6
PhosPhoSitePlusQ9HCE6
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)   
Domains : Interpro (EBI)DBL_dom_sf    DH-domain    PH-like_dom_sf    WD40/YVTN_repeat-like_dom_sf    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00621   
Domain families : Smart (EMBL)RhoGEF (SM00325)  
Conserved Domain (NCBI)ARHGEF10L
DMDM Disease mutations55160
Blocks (Seattle)ARHGEF10L
SuperfamilyQ9HCE6
Human Protein Atlas [tissue]ENSG00000074964-ARHGEF10L [tissue]
Peptide AtlasQ9HCE6
HPRD07679
IPIIPI00513819   IPI00478817   IPI00896497   IPI00168137   IPI00896467   IPI01009882   IPI00910632   IPI00642727   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCE6
IntAct (EBI)Q9HCE6
FunCoupENSG00000074964
BioGRIDARHGEF10L
STRING (EMBL)ARHGEF10L
ZODIACARHGEF10L
Ontologies - Pathways
QuickGOQ9HCE6
Ontology : AmiGOguanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  cytosol  cytosol  actin cytoskeleton organization  SREBP signaling pathway  SREBP signaling pathway  regulation of Rho protein signal transduction  positive regulation of GTPase activity  positive regulation of stress fiber assembly  positive regulation of stress fiber assembly  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  cytosol  cytosol  actin cytoskeleton organization  SREBP signaling pathway  SREBP signaling pathway  regulation of Rho protein signal transduction  positive regulation of GTPase activity  positive regulation of stress fiber assembly  positive regulation of stress fiber assembly  
NDEx NetworkARHGEF10L
Atlas of Cancer Signalling NetworkARHGEF10L
Wikipedia pathwaysARHGEF10L
Orthology - Evolution
OrthoDB55160
GeneTree (enSembl)ENSG00000074964
Phylogenetic Trees/Animal Genes : TreeFamARHGEF10L
HOVERGENQ9HCE6
HOGENOMQ9HCE6
Homologs : HomoloGeneARHGEF10L
Homology/Alignments : Family Browser (UCSC)ARHGEF10L
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF10L/CSDE1 [1p36.13/1p13.2]  
Fusion : MitelmanARHGEF10L/PADI4 [1p36.13/1p36.13]  [t(1;1)(p36;p36)]  
Fusion PortalARHGEF10L 1p36.13 CSDE1 1p13.2 BRCA
Fusion PortalARHGEF10L 1p36.13 PADI4 1p36.13 BRCA LUAD LUSC
Fusion : QuiverARHGEF10L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF10L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF10L
dbVarARHGEF10L
ClinVarARHGEF10L
1000_GenomesARHGEF10L 
Exome Variant ServerARHGEF10L
ExAC (Exome Aggregation Consortium)ENSG00000074964
GNOMAD BrowserENSG00000074964
Varsome BrowserARHGEF10L
Genetic variants : HAPMAP55160
Genomic Variants (DGV)ARHGEF10L [DGVbeta]
DECIPHERARHGEF10L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF10L 
Mutations
ICGC Data PortalARHGEF10L 
TCGA Data PortalARHGEF10L 
Broad Tumor PortalARHGEF10L
OASIS PortalARHGEF10L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF10L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF10L
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 ARHGEF10L
DgiDB (Drug Gene Interaction Database)ARHGEF10L
DoCM (Curated mutations)ARHGEF10L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF10L (select a term)
intoGenARHGEF10L
Cancer3DARHGEF10L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612494   
Orphanet
DisGeNETARHGEF10L
MedgenARHGEF10L
Genetic Testing Registry ARHGEF10L
NextProtQ9HCE6 [Medical]
TSGene55160
GENETestsARHGEF10L
Target ValidationARHGEF10L
Huge Navigator ARHGEF10L [HugePedia]
snp3D : Map Gene to Disease55160
BioCentury BCIQARHGEF10L
ClinGenARHGEF10L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55160
Chemical/Pharm GKB GenePA142672586
Clinical trialARHGEF10L
Miscellaneous
canSAR (ICR)ARHGEF10L (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF10L
EVEXARHGEF10L
GoPubMedARHGEF10L
iHOPARHGEF10L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 10:52:10 CET 2018
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