Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHMP1B (charged multivesicular body protein 1B)

Identity

Alias_nameschromatin modifying protein 1B
Alias_symbol (synonym)CHMP1.5
C18orf2
Vps46B
Other aliasC10orf2
C18-ORF2
Vps46-2
hVps46-2
HGNC (Hugo) CHMP1B
LocusID (NCBI) 57132
Atlas_Id 61802
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 11851390 and ends at 11854449 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)

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)CHMP1B   24287
Cards
Entrez_Gene (NCBI)CHMP1B  57132  charged multivesicular body protein 1B
AliasesC10orf2; C18-ORF2; C18orf2; CHMP1.5; 
Vps46-2; Vps46B; hVps46-2
GeneCards (Weizmann)CHMP1B
Ensembl hg19 (Hinxton)ENSG00000255112 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000255112 [Gene_View]  chr18:11851390-11854449 [Contig_View]  CHMP1B [Vega]
ICGC DataPortalENSG00000255112
TCGA cBioPortalCHMP1B
AceView (NCBI)CHMP1B
Genatlas (Paris)CHMP1B
WikiGenes57132
SOURCE (Princeton)CHMP1B
Genetics Home Reference (NIH)CHMP1B
Genomic and cartography
GoldenPath hg38 (UCSC)CHMP1B  -     chr18:11851390-11854449 +  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHMP1B  -     18p11.21   [Description]    (hg19-Feb_2009)
EnsemblCHMP1B - 18p11.21 [CytoView hg19]  CHMP1B - 18p11.21 [CytoView hg38]
Mapping of homologs : NCBICHMP1B [Mapview hg19]  CHMP1B [Mapview hg38]
OMIM606486   
Gene and transcription
Genbank (Entrez)AF281064 AK314068 BC012733 BC065933 BX494191
RefSeq transcript (Entrez)NM_020412
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHMP1B
Cluster EST : UnigeneHs.656244 [ NCBI ]
CGAP (NCI)Hs.656244
Alternative Splicing GalleryENSG00000255112
Gene ExpressionCHMP1B [ NCBI-GEO ]   CHMP1B [ EBI - ARRAY_EXPRESS ]   CHMP1B [ SEEK ]   CHMP1B [ MEM ]
Gene Expression Viewer (FireBrowse)CHMP1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57132
GTEX Portal (Tissue expression)CHMP1B
Human Protein AtlasENSG00000255112-CHMP1B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7LBR1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7LBR1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7LBR1
Splice isoforms : SwissVarQ7LBR1
PhosPhoSitePlusQ7LBR1
Domains : Interpro (EBI)Snf7_fam   
Domain families : Pfam (Sanger)Snf7 (PF03357)   
Domain families : Pfam (NCBI)pfam03357   
Conserved Domain (NCBI)CHMP1B
DMDM Disease mutations57132
Blocks (Seattle)CHMP1B
PDB (SRS)3EAB    3JC1    4TXQ    4TXR   
PDB (PDBSum)3EAB    3JC1    4TXQ    4TXR   
PDB (IMB)3EAB    3JC1    4TXQ    4TXR   
PDB (RSDB)3EAB    3JC1    4TXQ    4TXR   
Structural Biology KnowledgeBase3EAB    3JC1    4TXQ    4TXR   
SCOP (Structural Classification of Proteins)3EAB    3JC1    4TXQ    4TXR   
CATH (Classification of proteins structures)3EAB    3JC1    4TXQ    4TXR   
SuperfamilyQ7LBR1
Human Protein Atlas [tissue]ENSG00000255112-CHMP1B [tissue]
Peptide AtlasQ7LBR1
HPRD12106
IPIIPI00156984   
Protein Interaction databases
DIP (DOE-UCLA)Q7LBR1
IntAct (EBI)Q7LBR1
FunCoupENSG00000255112
BioGRIDCHMP1B
STRING (EMBL)CHMP1B
ZODIACCHMP1B
Ontologies - Pathways
QuickGOQ7LBR1
Ontology : AmiGOESCRT III complex  cell separation after cytokinesis  protein binding  nucleus  cytosol  nucleus organization  vacuolar transport  mitotic metaphase plate congression  endosome membrane  regulation of centrosome duplication  protein transport  protein domain specific binding  membrane coat  midbody  late endosome membrane  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  establishment of protein localization  cell division  extracellular exosome  regulation of mitotic spindle assembly  ESCRT III complex disassembly  
Ontology : EGO-EBIESCRT III complex  cell separation after cytokinesis  protein binding  nucleus  cytosol  nucleus organization  vacuolar transport  mitotic metaphase plate congression  endosome membrane  regulation of centrosome duplication  protein transport  protein domain specific binding  membrane coat  midbody  late endosome membrane  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  establishment of protein localization  cell division  extracellular exosome  regulation of mitotic spindle assembly  ESCRT III complex disassembly  
Pathways : KEGGEndocytosis   
NDEx NetworkCHMP1B
Atlas of Cancer Signalling NetworkCHMP1B
Wikipedia pathwaysCHMP1B
Orthology - Evolution
OrthoDB57132
GeneTree (enSembl)ENSG00000255112
Phylogenetic Trees/Animal Genes : TreeFamCHMP1B
HOVERGENQ7LBR1
HOGENOMQ7LBR1
Homologs : HomoloGeneCHMP1B
Homology/Alignments : Family Browser (UCSC)CHMP1B
Gene fusions - Rearrangements
Fusion: Tumor Portal CHMP1B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHMP1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHMP1B
dbVarCHMP1B
ClinVarCHMP1B
1000_GenomesCHMP1B 
Exome Variant ServerCHMP1B
ExAC (Exome Aggregation Consortium)ENSG00000255112
GNOMAD BrowserENSG00000255112
Genetic variants : HAPMAP57132
Genomic Variants (DGV)CHMP1B [DGVbeta]
DECIPHERCHMP1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHMP1B 
Mutations
ICGC Data PortalCHMP1B 
TCGA Data PortalCHMP1B 
Broad Tumor PortalCHMP1B
OASIS PortalCHMP1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHMP1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHMP1B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHMP1B
DgiDB (Drug Gene Interaction Database)CHMP1B
DoCM (Curated mutations)CHMP1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHMP1B (select a term)
intoGenCHMP1B
Cancer3DCHMP1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606486   
Orphanet
MedgenCHMP1B
Genetic Testing Registry CHMP1B
NextProtQ7LBR1 [Medical]
TSGene57132
GENETestsCHMP1B
Target ValidationCHMP1B
Huge Navigator CHMP1B [HugePedia]
snp3D : Map Gene to Disease57132
BioCentury BCIQCHMP1B
ClinGenCHMP1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57132
Chemical/Pharm GKB GenePA142672110
Clinical trialCHMP1B
Miscellaneous
canSAR (ICR)CHMP1B (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHMP1B
EVEXCHMP1B
GoPubMedCHMP1B
iHOPCHMP1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:42:34 CET 2017

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