Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CHM (CHM, Rab escort protein 1)

Identity

Alias_namesTCD
DXS540
choroideremia (Rab escort protein 1)
Alias_symbol (synonym)REP-1
HGNC (Hugo) CHM
LocusID (NCBI) 1121
Atlas_Id 40077
Location Xq21.2  [Link to chromosome band Xq21]
Location_base_pair Starts at 85116185 and ends at 85302566 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CHM (Xq21.2) / ABCB7 (Xq13.3)CHM (Xq21.2) / CHM (Xq21.2)CHM (Xq21.2) / EDEM1 (3p26.1)
CHM (Xq21.2) / KLHL4 (Xq21.31)CHM Xq21.2 / ABCB7 Xq13.3CHM Xq21.2 / KLHL4 Xq21.31

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
LRG (Locus Reference Genomic)LRG_699
Cards
Entrez_Gene (NCBI)CHM  1121  CHM, Rab escort protein 1
AliasesDXS540; GGTA; HSD-32; REP-1; 
TCD
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
Genetics Home Reference (NIH)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 NM_001320959
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 GalleryENSG00000188419
Gene ExpressionCHM [ NCBI-GEO ]   CHM [ EBI - ARRAY_EXPRESS ]   CHM [ SEEK ]   CHM [ MEM ]
Gene Expression Viewer (FireBrowse)CHM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1121
GTEX Portal (Tissue expression)CHM
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24386   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24386  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24386
Splice isoforms : SwissVarP24386
PhosPhoSitePlusP24386
Domains : Interpro (EBI)FAD/NAD-binding_dom    GDP_dissociation_inhibitor    Rab_escort   
Domain families : Pfam (Sanger)GDI (PF00996)   
Domain families : Pfam (NCBI)pfam00996   
Conserved Domain (NCBI)CHM
DMDM Disease mutations1121
Blocks (Seattle)CHM
SuperfamilyP24386
Human Protein AtlasENSG00000188419
Peptide AtlasP24386
HPRD02312
IPIIPI00028099   IPI01015378   IPI00167548   IPI00641814   
Protein Interaction databases
DIP (DOE-UCLA)P24386
IntAct (EBI)P24386
FunCoupENSG00000188419
BioGRIDCHM
STRING (EMBL)CHM
ZODIACCHM
Ontologies - Pathways
QuickGOP24386
Ontology : AmiGORab geranylgeranyltransferase activity  GTPase activator activity  cytosol  cytosol  Rab-protein geranylgeranyltransferase complex  protein targeting to membrane  visual perception  oxidoreductase activity  Rab GTPase binding  Rab GTPase binding  protein geranylgeranylation  regulation of apoptotic process  positive regulation of GTPase activity  response to stimulus  oxidation-reduction process  
Ontology : EGO-EBIRab geranylgeranyltransferase activity  GTPase activator activity  cytosol  cytosol  Rab-protein geranylgeranyltransferase complex  protein targeting to membrane  visual perception  oxidoreductase activity  Rab GTPase binding  Rab GTPase binding  protein geranylgeranylation  regulation of apoptotic process  positive regulation of GTPase activity  response to stimulus  oxidation-reduction process  
NDEx NetworkCHM
Atlas of Cancer Signalling NetworkCHM
Wikipedia pathwaysCHM
Orthology - Evolution
OrthoDB1121
GeneTree (enSembl)ENSG00000188419
Phylogenetic Trees/Animal Genes : TreeFamCHM
HOVERGENP24386
HOGENOMP24386
Homologs : HomoloGeneCHM
Homology/Alignments : Family Browser (UCSC)CHM
Gene fusions - Rearrangements
Fusion : MitelmanCHM/ABCB7 [Xq21.2/Xq13.3]  
Fusion : MitelmanCHM/KLHL4 [Xq21.2/Xq21.31]  [t(X;X)(q21;q21)]  
Fusion: TCGACHM Xq21.2 ABCB7 Xq13.3 BRCA
Fusion: TCGACHM Xq21.2 KLHL4 Xq21.31 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHM
dbVarCHM
ClinVarCHM
1000_GenomesCHM 
Exome Variant ServerCHM
ExAC (Exome Aggregation Consortium)CHM (select the gene name)
Genetic variants : HAPMAP1121
Genomic Variants (DGV)CHM [DGVbeta]
DECIPHER (Syndromes)X:85116185-85302566  ENSG00000188419
CONAN: Copy Number AnalysisCHM 
Mutations
ICGC Data PortalCHM 
TCGA Data PortalCHM 
Broad Tumor PortalCHM
OASIS PortalCHM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHM
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
BioMutasearch CHM
DgiDB (Drug Gene Interaction Database)CHM
DoCM (Curated mutations)CHM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHM (select a term)
intoGenCHM
Cancer3DCHM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300390    303100   
Orphanet921   
MedgenCHM
Genetic Testing Registry CHM
NextProtP24386 [Medical]
TSGene1121
GENETestsCHM
Huge Navigator CHM [HugePedia]
snp3D : Map Gene to Disease1121
BioCentury BCIQCHM
ClinGenCHM (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1121
Chemical/Pharm GKB GenePA26471
Clinical trialCHM
Miscellaneous
canSAR (ICR)CHM (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHM
EVEXCHM
GoPubMedCHM
iHOPCHM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:33:54 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.