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CHN1 (chimerin 1)

Identity

Alias_namesCHN
DURS2
Duane retraction syndrome 2
chimerin (chimaerin) 1
Alias_symbol (synonym)RhoGAP2
ARHGAP2
n-chimerin
Other aliasNC
RHOGAP2
HGNC (Hugo) CHN1
LocusID (NCBI) 1123
Atlas_Id 40078
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 174799314 and ends at 175005379 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)
CHN1 (2q31.1) / CHN1 (2q31.1)CHN1 (2q31.1) / GPN3 (12q24.11)CHN1 (2q31.1) / NCOR2 (12q24.31)
CHN1 (2q31.1) / TAF15 (17q12)CHN1 (2q31.1) / TSGA10 (2q11.2)EWSR1 (22q12.2) / CHN1 (2q31.1)
TAF15 (17q12) / CHN1 (2q31.1)CHN1 2q31.1 / TSGA10 2q11.2

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)CHN1   1943
Cards
Entrez_Gene (NCBI)CHN1  1123  chimerin 1
AliasesARHGAP2; CHN; DURS2; NC; 
RHOGAP2
GeneCards (Weizmann)CHN1
Ensembl hg19 (Hinxton)ENSG00000128656 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128656 [Gene_View]  chr2:174799314-175005379 [Contig_View]  CHN1 [Vega]
ICGC DataPortalENSG00000128656
TCGA cBioPortalCHN1
AceView (NCBI)CHN1
Genatlas (Paris)CHN1
WikiGenes1123
SOURCE (Princeton)CHN1
Genetics Home Reference (NIH)CHN1
Genomic and cartography
GoldenPath hg38 (UCSC)CHN1  -     chr2:174799314-175005379 -  2q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHN1  -     2q31.1   [Description]    (hg19-Feb_2009)
EnsemblCHN1 - 2q31.1 [CytoView hg19]  CHN1 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBICHN1 [Mapview hg19]  CHN1 [Mapview hg38]
OMIM118423   604356   
Gene and transcription
Genbank (Entrez)AB209788 AK055060 AK289941 AK300890 BC011393
RefSeq transcript (Entrez)NM_001025201 NM_001206602 NM_001822
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHN1
Cluster EST : UnigeneHs.380138 [ NCBI ]
CGAP (NCI)Hs.380138
Alternative Splicing GalleryENSG00000128656
Gene ExpressionCHN1 [ NCBI-GEO ]   CHN1 [ EBI - ARRAY_EXPRESS ]   CHN1 [ SEEK ]   CHN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1123
GTEX Portal (Tissue expression)CHN1
Human Protein AtlasENSG00000128656-CHN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15882   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15882  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15882
Splice isoforms : SwissVarP15882
PhosPhoSitePlusP15882
Domaine pattern : Prosite (Expaxy)RHOGAP (PS50238)    SH2 (PS50001)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)CHN1/CHN2    DAG/PE-bd    PE/DAG-bd    Rho_GTPase_activation_prot    RhoGAP_dom    SH2   
Domain families : Pfam (Sanger)C1_1 (PF00130)    RhoGAP (PF00620)    SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00130    pfam00620    pfam00017   
Domain families : Smart (EMBL)C1 (SM00109)  RhoGAP (SM00324)  SH2 (SM00252)  
Conserved Domain (NCBI)CHN1
DMDM Disease mutations1123
Blocks (Seattle)CHN1
PDB (SRS)2OSA    3CXL   
PDB (PDBSum)2OSA    3CXL   
PDB (IMB)2OSA    3CXL   
PDB (RSDB)2OSA    3CXL   
Structural Biology KnowledgeBase2OSA    3CXL   
SCOP (Structural Classification of Proteins)2OSA    3CXL   
CATH (Classification of proteins structures)2OSA    3CXL   
SuperfamilyP15882
Human Protein Atlas [tissue]ENSG00000128656-CHN1 [tissue]
Peptide AtlasP15882
HPRD00319
IPIIPI00013488   IPI00221041   IPI00910824   IPI00917235   IPI00917357   IPI00916361   IPI00916715   IPI00916084   IPI00916484   IPI00917444   IPI00917288   
Protein Interaction databases
DIP (DOE-UCLA)P15882
IntAct (EBI)P15882
FunCoupENSG00000128656
BioGRIDCHN1
STRING (EMBL)CHN1
ZODIACCHN1
Ontologies - Pathways
QuickGOP15882
Ontology : AmiGOSH3/SH2 adaptor activity  GTPase activator activity  protein binding  cytoplasm  cytosol  motor neuron axon guidance  positive regulation of signal transduction  intracellular signal transduction  regulation of GTPase activity  positive regulation of GTPase activity  metal ion binding  ephrin receptor binding  ephrin receptor signaling pathway  regulation of axonogenesis  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBISH3/SH2 adaptor activity  GTPase activator activity  protein binding  cytoplasm  cytosol  motor neuron axon guidance  positive regulation of signal transduction  intracellular signal transduction  regulation of GTPase activity  positive regulation of GTPase activity  metal ion binding  ephrin receptor binding  ephrin receptor signaling pathway  regulation of axonogenesis  regulation of small GTPase mediated signal transduction  
Pathways : BIOCARTARac 1 cell motility signaling pathway [Genes]   
NDEx NetworkCHN1
Atlas of Cancer Signalling NetworkCHN1
Wikipedia pathwaysCHN1
Orthology - Evolution
OrthoDB1123
GeneTree (enSembl)ENSG00000128656
Phylogenetic Trees/Animal Genes : TreeFamCHN1
HOVERGENP15882
HOGENOMP15882
Homologs : HomoloGeneCHN1
Homology/Alignments : Family Browser (UCSC)CHN1
Gene fusions - Rearrangements
Fusion : MitelmanCHN1/TSGA10 [2q31.1/2q11.2]  
Fusion: TCGACHN1 2q31.1 TSGA10 2q11.2 BRCA
Fusion: Tumor Portal CHN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHN1
dbVarCHN1
ClinVarCHN1
1000_GenomesCHN1 
Exome Variant ServerCHN1
ExAC (Exome Aggregation Consortium)ENSG00000128656
GNOMAD BrowserENSG00000128656
Genetic variants : HAPMAP1123
Genomic Variants (DGV)CHN1 [DGVbeta]
DECIPHERCHN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHN1 
Mutations
ICGC Data PortalCHN1 
TCGA Data PortalCHN1 
Broad Tumor PortalCHN1
OASIS PortalCHN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHN1
DgiDB (Drug Gene Interaction Database)CHN1
DoCM (Curated mutations)CHN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHN1 (select a term)
intoGenCHN1
Cancer3DCHN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118423    604356   
Orphanet1039   
MedgenCHN1
Genetic Testing Registry CHN1
NextProtP15882 [Medical]
TSGene1123
GENETestsCHN1
Target ValidationCHN1
Huge Navigator CHN1 [HugePedia]
snp3D : Map Gene to Disease1123
BioCentury BCIQCHN1
ClinGenCHN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1123
Chemical/Pharm GKB GenePA26473
Clinical trialCHN1
Miscellaneous
canSAR (ICR)CHN1 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHN1
EVEXCHN1
GoPubMedCHN1
iHOPCHN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:44:41 CET 2017

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