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BMERB1 (bMERB domain containing 1)

Identity

Other aliasC16orf45
MINP
HGNC (Hugo) BMERB1
LocusID (NCBI) 89927
Atlas_Id 54165
Location 16p13.11  [Link to chromosome band 16p13]
Location_base_pair Starts at 15434588 and ends at 15588259 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)
C16orf45 16p13.11 / POMT2 14q24.3C16orf45 16p13.11 / RHBDL2 1p34.3KLHL3 5q31.2 / C16orf45 16p13.11
STAG2 Xq25 / C16orf45 16p13.11
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



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;16)(p34;p13) C16orf45/RHBDL2
t(5;16)(q31;p13) KLHL3/C16orf45
t(X;16)(q25;p13) STAG2/C16orf45
t(14;16)(q24;p13) C16orf45/POMT2


External links

Nomenclature
HGNC (Hugo)BMERB1   19213
Cards
Entrez_Gene (NCBI)BMERB1  89927  bMERB domain containing 1
AliasesC16orf45; MINP
GeneCards (Weizmann)BMERB1
Ensembl hg19 (Hinxton)ENSG00000166780 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166780 [Gene_View]  ENSG00000166780 [Sequence]  chr16:15434588-15588259 [Contig_View]  BMERB1 [Vega]
ICGC DataPortalENSG00000166780
TCGA cBioPortalBMERB1
AceView (NCBI)BMERB1
Genatlas (Paris)BMERB1
WikiGenes89927
SOURCE (Princeton)BMERB1
Genetics Home Reference (NIH)BMERB1
Genomic and cartography
GoldenPath hg38 (UCSC)BMERB1  -     chr16:15434588-15588259 +  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BMERB1  -     -   [Description]    (hg19-Feb_2009)
GoldenPathBMERB1 - - [CytoView hg19]  BMERB1 - - [CytoView hg38]
Genome Data Viewer NCBIBMERB1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AI377644 AK057180 AK293431 BC008967 BC023603
RefSeq transcript (Entrez)NM_001142469 NM_033201
RefSeq genomic (Entrez)NC_000016 NT_187607
Consensus coding sequences : CCDS (NCBI)BMERB1
Alternative Splicing GalleryENSG00000166780
Gene ExpressionBMERB1 [ NCBI-GEO ]   BMERB1 [ EBI - ARRAY_EXPRESS ]   BMERB1 [ SEEK ]   BMERB1 [ MEM ]
Gene Expression Viewer (FireBrowse)BMERB1 [ Firebrowse - Broad ]
GenevisibleExpression of BMERB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)89927
GTEX Portal (Tissue expression)BMERB1
Human Protein AtlasENSG00000166780-BMERB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96MC5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96MC5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96MC5
Splice isoforms : SwissVarQ96MC5
PhosPhoSitePlusQ96MC5
Domaine pattern : Prosite (Expaxy)BMERB (PS51848)   
Domains : Interpro (EBI)bMERB_dom    C16orf45-like   
Domain families : Pfam (Sanger)DUF3585 (PF12130)   
Domain families : Pfam (NCBI)pfam12130   
Conserved Domain (NCBI)BMERB1
DMDM Disease mutations89927
SuperfamilyQ96MC5
Human Protein Atlas [tissue]ENSG00000166780-BMERB1 [tissue]
Peptide AtlasQ96MC5
HPRD12382
Protein Interaction databases
DIP (DOE-UCLA)Q96MC5
IntAct (EBI)Q96MC5
FunCoupENSG00000166780
BioGRIDBMERB1
STRING (EMBL)BMERB1
ZODIACBMERB1
Ontologies - Pathways
QuickGOQ96MC5
Ontology : AmiGOprotein binding  negative regulation of microtubule depolymerization  microtubule cytoskeleton  negative regulation of cell motility involved in cerebral cortex radial glia guided migration  
Ontology : EGO-EBIprotein binding  negative regulation of microtubule depolymerization  microtubule cytoskeleton  negative regulation of cell motility involved in cerebral cortex radial glia guided migration  
NDEx NetworkBMERB1
Atlas of Cancer Signalling NetworkBMERB1
Wikipedia pathwaysBMERB1
Orthology - Evolution
OrthoDB89927
GeneTree (enSembl)ENSG00000166780
Phylogenetic Trees/Animal Genes : TreeFamBMERB1
HOGENOMQ96MC5
Homologs : HomoloGeneBMERB1
Homology/Alignments : Family Browser (UCSC)BMERB1
Gene fusions - Rearrangements
Fusion : MitelmanC16orf45/ABCC1 [16p13.11/16p13.11]  
Fusion : MitelmanC16orf45/POMT2 [16p13.11/14q24.3]  
Fusion : MitelmanC16orf45/RHBDL2 [16p13.11/1p34.3]  
Fusion : MitelmanKLHL3/C16orf45 [5q31.2/16p13.11]  
Fusion : MitelmanSTAG2/C16orf45 [Xq25/16p13.11]  
Fusion PortalC16orf45 16p13.11 POMT2 14q24.3 BRCA
Fusion PortalC16orf45 16p13.11 RHBDL2 1p34.3 BRCA
Fusion PortalKLHL3 5q31.2 C16orf45 16p13.11 OV
Fusion PortalSTAG2 Xq25 C16orf45 16p13.11 LUAD
Fusion : QuiverBMERB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBMERB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMERB1
dbVarBMERB1
ClinVarBMERB1
1000_GenomesBMERB1 
Exome Variant ServerBMERB1
GNOMAD BrowserENSG00000166780
Varsome BrowserBMERB1
Genetic variants : HAPMAP89927
Genomic Variants (DGV)BMERB1 [DGVbeta]
DECIPHERBMERB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBMERB1 
Mutations
ICGC Data PortalBMERB1 
TCGA Data PortalBMERB1 
Broad Tumor PortalBMERB1
OASIS PortalBMERB1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDBMERB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutaselect BMERB1
DgiDB (Drug Gene Interaction Database)BMERB1
DoCM (Curated mutations)BMERB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BMERB1 (select a term)
intoGenBMERB1
Cancer3DBMERB1 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETBMERB1
MedgenBMERB1
Genetic Testing Registry BMERB1
NextProtQ96MC5 [Medical]
TSGene89927
GENETestsBMERB1
Open Targets GeneticsENSG00000166780  [validation]
snp3D : Map Gene to Disease89927
BioCentury BCIQBMERB1
ClinGenBMERB1
Clinical trials, drugs, therapy
Protein Interactions : CTD89927
Pharm GKB GenePA134973206
Clinical trialBMERB1
Miscellaneous
canSAR (ICR)BMERB1 (select the gene name)
HarmonizomeBMERB1
DataMed IndexBMERB1
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBMERB1
EVEXBMERB1
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 : Sat Jul 11 19:40:46 CEST 2020

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