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CHM (choroideremia (Rab escort protein 1))

Identity

Other namesDXS540
GGTA
HSD-32
REP-1
TCD
HGNC (Hugo) CHM
LocusID (NCBI) 1121
Atlas_Id 40077
Location Xq21.2
Location_base_pair Starts at 85116185 and ends at 85302566 bp from pter ( according to hg19-Feb_2009)

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)CHM   1940
Cards
Entrez_Gene (NCBI)CHM  1121  choroideremia (Rab escort protein 1)
GeneCards (Weizmann)CHM
Ensembl hg19 (Hinxton)ENSG00000188419 [Gene_View]  chrX:85116185-85302566 [Contig_View]  CHM [Vega]
Ensembl hg38 (Hinxton)ENSG00000188419 [Gene_View]  chrX:85116185-85302566 [Contig_View]  CHM [Vega]
ICGC DataPortalENSG00000188419
TCGA cBioPortalCHM
AceView (NCBI)CHM
Genatlas (Paris)CHM
WikiGenes1121
SOURCE (Princeton)CHM
Genomic and cartography
GoldenPath hg19 (UCSC)CHM  -     chrX:85116185-85302566 -  Xq21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHM  -     Xq21.2   [Description]    (hg38-Dec_2013)
EnsemblCHM - Xq21.2 [CytoView hg19]  CHM - Xq21.2 [CytoView hg38]
Mapping of homologs : NCBICHM [Mapview hg19]  CHM [Mapview hg38]
OMIM300390   303100   
Gene and transcription
Genbank (Entrez)AK095883 AK291160 AK299323 AK312443 AY255796
RefSeq transcript (Entrez)NM_000390 NM_001037312 NM_001145414
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009874 NT_011651 NW_004929444
Consensus coding sequences : CCDS (NCBI)CHM
Cluster EST : UnigeneHs.496449 [ NCBI ]
CGAP (NCI)Hs.496449
Alternative Splicing : Fast-db (Paris)GSHG0032209
Alternative Splicing GalleryENSG00000188419
Gene ExpressionCHM [ NCBI-GEO ]     CHM [ SEEK ]   CHM [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24386 (Uniprot)
NextProtP24386  [Medical]
With graphics : InterProP24386
Splice isoforms : SwissVarP24386 (Swissvar)
Domains : Interpro (EBI)GDP_dissociation_inhibitor    Rab_escort    Rab_geranylTrfase_A_euk   
Related proteins : CluSTrP24386
Domain families : Pfam (Sanger)GDI (PF00996)   
Domain families : Pfam (NCBI)pfam00996   
DMDM Disease mutations1121
Blocks (Seattle)P24386
Human Protein AtlasENSG00000188419
Peptide AtlasP24386
HPRD02312
IPIIPI00028099   IPI01015378   IPI00167548   IPI00641814   
Protein Interaction databases
DIP (DOE-UCLA)P24386
IntAct (EBI)P24386
FunCoupENSG00000188419
BioGRIDCHM
IntegromeDBCHM
STRING (EMBL)CHM
Ontologies - Pathways
QuickGOP24386
Ontology : AmiGOblood vessel development  Rab geranylgeranyltransferase activity  GTPase activator activity  cytosol  Rab-protein geranylgeranyltransferase complex  protein targeting to membrane  visual perception  Rab GTPase binding  Rab GTPase binding  protein geranylgeranylation  positive regulation of GTPase activity  response to stimulus  
Ontology : EGO-EBIblood vessel development  Rab geranylgeranyltransferase activity  GTPase activator activity  cytosol  Rab-protein geranylgeranyltransferase complex  protein targeting to membrane  visual perception  Rab GTPase binding  Rab GTPase binding  protein geranylgeranylation  positive regulation of GTPase activity  response to stimulus  
Protein Interaction DatabaseCHM
DoCM (Curated mutations)CHM
Wikipedia pathwaysCHM
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerCHM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHM
dbVarCHM
ClinVarCHM
1000_GenomesCHM 
Exome Variant ServerCHM
SNP (GeneSNP Utah)CHM
SNP : HGBaseCHM
Genetic variants : HAPMAPCHM
Genomic Variants (DGV)CHM [DGVbeta]
Mutations
ICGC Data PortalCHM 
TCGA Data PortalCHM 
Tumor PortalCHM
Somatic Mutations in Cancer : COSMICCHM 
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
LOVD (Leiden Open Variation Database)Retinal and hearing impairment genetic mutation database
LOVD (Leiden Open Variation Database)NGRL, Manchester LOVD
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:85116185-85302566
CONAN: Copy Number AnalysisCHM 
Mutations and Diseases : HGMDCHM
OMIM300390    303100   
MedgenCHM
NextProtP24386 [Medical]
GENETestsCHM
Disease Genetic AssociationCHM
Huge Navigator CHM [HugePedia]  CHM [HugeCancerGEM]
snp3D : Map Gene to Disease1121
DGIdb (Drug Gene Interaction db)CHM
General knowledge
Homologs : HomoloGeneCHM
Homology/Alignments : Family Browser (UCSC)CHM
Phylogenetic Trees/Animal Genes : TreeFamCHM
Chemical/Protein Interactions : CTD1121
Chemical/Pharm GKB GenePA26471
Clinical trialCHM
Cancer Resource (Charite)ENSG00000188419
Other databases
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
CoreMineCHM
GoPubMedCHM
iHOPCHM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 14:12:41 CEST 2015

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