Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ARHGEF16 (Rho guanine nucleotide exchange factor 16)

Identity

Alias (NCBI)GEF16
NBR
HGNC (Hugo) ARHGEF16
HGNC Alias symbNBR
GEF16
HGNC Alias nameputative neuroblastoma protein
 ephexin4
HGNC Previous nameRho guanine nucleotide exchange factor (GEF) 16
LocusID (NCBI) 27237
Atlas_Id 699
Location 1p36.32  [Link to chromosome band 1p36]
Location_base_pair Starts at 3454665 and ends at 3481113 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)
ARHGEF16 (1p36.32) / TCTEX1D4 (1p34.1)LOC100507412 (-) / ARHGEF16 (1p36.32)

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 ]
  Lung: Translocations in Adenocarcinoma
t(1;1)(p36;p34) ARHGEF16/TCTEX1D4

External links

Nomenclature
HGNC (Hugo)ARHGEF16   15515
Cards
Entrez_Gene (NCBI)ARHGEF16  27237  Rho guanine nucleotide exchange factor 16
AliasesGEF16; NBR
GeneCards (Weizmann)ARHGEF16
Ensembl hg19 (Hinxton)ENSG00000130762 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130762 [Gene_View]  ENSG00000130762 [Sequence]  chr1:3454665-3481113 [Contig_View]  ARHGEF16 [Vega]
ICGC DataPortalENSG00000130762
TCGA cBioPortalARHGEF16
AceView (NCBI)ARHGEF16
Genatlas (Paris)ARHGEF16
WikiGenes27237
SOURCE (Princeton)ARHGEF16
Genetics Home Reference (NIH)ARHGEF16
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF16  -     chr1:3454665-3481113 +  1p36.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF16  -     1p36.32   [Description]    (hg19-Feb_2009)
GoldenPathARHGEF16 - 1p36.32 [CytoView hg19]  ARHGEF16 - 1p36.32 [CytoView hg38]
ImmunoBaseENSG00000130762
genome Data Viewer NCBIARHGEF16 [Mapview hg19]  
OMIM618871   
Gene and transcription
Genbank (Entrez)AK091910 AK095984 AK296150 AK310408 BC002681
RefSeq transcript (Entrez)NM_014448
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF16
Alternative Splicing GalleryENSG00000130762
Gene ExpressionARHGEF16 [ NCBI-GEO ]   ARHGEF16 [ EBI - ARRAY_EXPRESS ]   ARHGEF16 [ SEEK ]   ARHGEF16 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF16 [ Firebrowse - Broad ]
GenevisibleExpression of ARHGEF16 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27237
GTEX Portal (Tissue expression)ARHGEF16
Human Protein AtlasENSG00000130762-ARHGEF16 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VV41   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VV41  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VV41
Splice isoforms : SwissVarQ5VV41
PhosPhoSitePlusQ5VV41
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)ARHGEF16/ARHGEF26_SH3    DBL_dom_sf    DH-domain    PH-like_dom_sf    PH_domain    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGEF (PF00621)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00169    pfam00621    pfam14604   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)ARHGEF16
DMDM Disease mutations27237
Blocks (Seattle)ARHGEF16
PDB (RSDB)1X6B   
PDB Europe1X6B   
PDB (PDBSum)1X6B   
PDB (IMB)1X6B   
Structural Biology KnowledgeBase1X6B   
SCOP (Structural Classification of Proteins)1X6B   
CATH (Classification of proteins structures)1X6B   
SuperfamilyQ5VV41
Human Protein Atlas [tissue]ENSG00000130762-ARHGEF16 [tissue]
Peptide AtlasQ5VV41
HPRD12478
IPIIPI00550506   IPI00328544   IPI00889532   IPI00893783   
Protein Interaction databases
DIP (DOE-UCLA)Q5VV41
IntAct (EBI)Q5VV41
FunCoupENSG00000130762
BioGRIDARHGEF16
STRING (EMBL)ARHGEF16
ZODIACARHGEF16
Ontologies - Pathways
QuickGOQ5VV41
Ontology : AmiGORho guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  G protein-coupled receptor signaling pathway  Rho GTPase binding  PDZ domain binding  receptor tyrosine kinase binding  positive regulation of apoptotic process  cadherin binding  regulation of small GTPase mediated signal transduction  cell chemotaxis  activation of GTPase activity  activation of GTPase activity  activation of GTPase activity  positive regulation of protein localization to plasma membrane  
Ontology : EGO-EBIRho guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  G protein-coupled receptor signaling pathway  Rho GTPase binding  PDZ domain binding  receptor tyrosine kinase binding  positive regulation of apoptotic process  cadherin binding  regulation of small GTPase mediated signal transduction  cell chemotaxis  activation of GTPase activity  activation of GTPase activity  activation of GTPase activity  positive regulation of protein localization to plasma membrane  
NDEx NetworkARHGEF16
Atlas of Cancer Signalling NetworkARHGEF16
Wikipedia pathwaysARHGEF16
Orthology - Evolution
OrthoDB27237
GeneTree (enSembl)ENSG00000130762
Phylogenetic Trees/Animal Genes : TreeFamARHGEF16
HOGENOMQ5VV41
Homologs : HomoloGeneARHGEF16
Homology/Alignments : Family Browser (UCSC)ARHGEF16
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF16/TCTEX1D4 [1p36.32/1p34.1]  
Fusion : QuiverARHGEF16
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF16 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF16
dbVarARHGEF16
ClinVarARHGEF16
1000_GenomesARHGEF16 
Exome Variant ServerARHGEF16
GNOMAD BrowserENSG00000130762
Varsome BrowserARHGEF16
Genetic variants : HAPMAP27237
Genomic Variants (DGV)ARHGEF16 [DGVbeta]
DECIPHERARHGEF16 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF16 
Mutations
ICGC Data PortalARHGEF16 
TCGA Data PortalARHGEF16 
Broad Tumor PortalARHGEF16
OASIS PortalARHGEF16 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF16  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DARHGEF16
Mutations and Diseases : HGMDARHGEF16
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 ARHGEF16
DgiDB (Drug Gene Interaction Database)ARHGEF16
DoCM (Curated mutations)ARHGEF16 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF16 (select a term)
intoGenARHGEF16
Cancer3DARHGEF16(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618871   
Orphanet
DisGeNETARHGEF16
MedgenARHGEF16
Genetic Testing Registry ARHGEF16
NextProtQ5VV41 [Medical]
TSGene27237
GENETestsARHGEF16
Target ValidationARHGEF16
Huge Navigator ARHGEF16 [HugePedia]
snp3D : Map Gene to Disease27237
BioCentury BCIQARHGEF16
ClinGenARHGEF16
Clinical trials, drugs, therapy
Protein Interactions : CTD27237
Pharm GKB GenePA24971
Clinical trialARHGEF16
Miscellaneous
canSAR (ICR)ARHGEF16 (select the gene name)
HarmonizomeARHGEF16
DataMed IndexARHGEF16
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF16
EVEXARHGEF16
GoPubMedARHGEF16
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:03:43 CEST 2020
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