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BCL2L13 (BCL2 like 13)

Identity

Alias_namesBCL2-like 13 (apoptosis facilitator)
Alias_symbol (synonym)MIL1
BCL-RAMBO
Other aliasBcl2-L-13
HGNC (Hugo) BCL2L13
LocusID (NCBI) 23786
Atlas_Id 43163
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 17638584 and ends at 17730855 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCL2L13 (22q11.21) / BCL2L13 (22q11.21)BCL2L13 (22q11.21) / ZNF383 (19q13.12)HIRA (22q11.21) / BCL2L13 (22q11.21)
SLC39A9 (14q24.1) / BCL2L13 (22q11.21)SPECC1L (22q11.23) / BCL2L13 (22q11.21)BCL2L13 22q11.21 / ZNF383 19q13.12
HIRA 22q11.21 / BCL2L13 22q11.21SLC39A9 14q24.1 / BCL2L13 22q11.21SPECC1L 22q11.23 / BCL2L13 22q11.21

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)BCL2L13   17164
Cards
Entrez_Gene (NCBI)BCL2L13  23786  BCL2 like 13
AliasesBCL-RAMBO; Bcl2-L-13; MIL1
GeneCards (Weizmann)BCL2L13
Ensembl hg19 (Hinxton)ENSG00000099968 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099968 [Gene_View]  chr22:17638584-17730855 [Contig_View]  BCL2L13 [Vega]
ICGC DataPortalENSG00000099968
TCGA cBioPortalBCL2L13
AceView (NCBI)BCL2L13
Genatlas (Paris)BCL2L13
WikiGenes23786
SOURCE (Princeton)BCL2L13
Genetics Home Reference (NIH)BCL2L13
Genomic and cartography
GoldenPath hg38 (UCSC)BCL2L13  -     chr22:17638584-17730855 +  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCL2L13  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblBCL2L13 - 22q11.21 [CytoView hg19]  BCL2L13 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIBCL2L13 [Mapview hg19]  BCL2L13 [Mapview hg38]
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001270726 NM_001270727 NM_001270728 NM_001270729 NM_001270730 NM_001270731 NM_001270732 NM_001270733 NM_001270734 NM_001270735 NM_015367
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCL2L13
Cluster EST : UnigeneHs.631672 [ NCBI ]
CGAP (NCI)Hs.631672
Alternative Splicing GalleryENSG00000099968
Gene ExpressionBCL2L13 [ NCBI-GEO ]   BCL2L13 [ EBI - ARRAY_EXPRESS ]   BCL2L13 [ SEEK ]   BCL2L13 [ MEM ]
Gene Expression Viewer (FireBrowse)BCL2L13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23786
GTEX Portal (Tissue expression)BCL2L13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXK5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXK5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXK5
Splice isoforms : SwissVarQ9BXK5
PhosPhoSitePlusQ9BXK5
Domaine pattern : Prosite (Expaxy)BCL2_FAMILY (PS50062)   
Domains : Interpro (EBI)Bcl2-like    Blc2_fam   
Domain families : Pfam (Sanger)Bcl-2 (PF00452)   
Domain families : Pfam (NCBI)pfam00452   
Conserved Domain (NCBI)BCL2L13
DMDM Disease mutations23786
Blocks (Seattle)BCL2L13
PDB (SRS)2IPD   
PDB (PDBSum)2IPD   
PDB (IMB)2IPD   
PDB (RSDB)2IPD   
Structural Biology KnowledgeBase2IPD   
SCOP (Structural Classification of Proteins)2IPD   
CATH (Classification of proteins structures)2IPD   
SuperfamilyQ9BXK5
Human Protein AtlasENSG00000099968
Peptide AtlasQ9BXK5
HPRD09822
IPIIPI00011635   IPI00220829   IPI01010851   IPI00925297   IPI00218043   IPI00384014   IPI00853612   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXK5
IntAct (EBI)Q9BXK5
FunCoupENSG00000099968
BioGRIDBCL2L13
STRING (EMBL)BCL2L13
ZODIACBCL2L13
Ontologies - Pathways
QuickGOQ9BXK5
Ontology : AmiGOprotein binding  nucleus  mitochondrion  mitochondrion  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activator activity involved in apoptotic process  integral component of membrane  mitochondrial membrane  
Ontology : EGO-EBIprotein binding  nucleus  mitochondrion  mitochondrion  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activator activity involved in apoptotic process  integral component of membrane  mitochondrial membrane  
Pathways : KEGGLegionellosis   
NDEx NetworkBCL2L13
Atlas of Cancer Signalling NetworkBCL2L13
Wikipedia pathwaysBCL2L13
Orthology - Evolution
OrthoDB23786
GeneTree (enSembl)ENSG00000099968
Phylogenetic Trees/Animal Genes : TreeFamBCL2L13
HOVERGENQ9BXK5
HOGENOMQ9BXK5
Homologs : HomoloGeneBCL2L13
Homology/Alignments : Family Browser (UCSC)BCL2L13
Gene fusions - Rearrangements
Fusion : MitelmanBCL2L13/ZNF383 [22q11.21/19q13.12]  
Fusion : MitelmanHIRA/BCL2L13 [22q11.21/22q11.21]  [t(22;22)(q11;q11)]  
Fusion : MitelmanSLC39A9/BCL2L13 [14q24.1/22q11.21]  [t(14;22)(q24;q11)]  
Fusion : MitelmanSPECC1L/BCL2L13 [22q11.23/22q11.21]  [t(22;22)(q11;q11)]  
Fusion: TCGABCL2L13 22q11.21 ZNF383 19q13.12 BLCA
Fusion: TCGAHIRA 22q11.21 BCL2L13 22q11.21 HNSC
Fusion: TCGASLC39A9 14q24.1 BCL2L13 22q11.21 GBM
Fusion: TCGASPECC1L 22q11.23 BCL2L13 22q11.21 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCL2L13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL2L13
dbVarBCL2L13
ClinVarBCL2L13
1000_GenomesBCL2L13 
Exome Variant ServerBCL2L13
ExAC (Exome Aggregation Consortium)BCL2L13 (select the gene name)
Genetic variants : HAPMAP23786
Genomic Variants (DGV)BCL2L13 [DGVbeta]
DECIPHERBCL2L13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCL2L13 
Mutations
ICGC Data PortalBCL2L13 
TCGA Data PortalBCL2L13 
Broad Tumor PortalBCL2L13
OASIS PortalBCL2L13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCL2L13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCL2L13
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BCL2L13
DgiDB (Drug Gene Interaction Database)BCL2L13
DoCM (Curated mutations)BCL2L13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCL2L13 (select a term)
intoGenBCL2L13
Cancer3DBCL2L13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenBCL2L13
Genetic Testing Registry BCL2L13
NextProtQ9BXK5 [Medical]
TSGene23786
GENETestsBCL2L13
Target ValidationBCL2L13
Huge Navigator BCL2L13 [HugePedia]
snp3D : Map Gene to Disease23786
BioCentury BCIQBCL2L13
ClinGenBCL2L13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23786
Chemical/Pharm GKB GenePA134912159
Clinical trialBCL2L13
Miscellaneous
canSAR (ICR)BCL2L13 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCL2L13
EVEXBCL2L13
GoPubMedBCL2L13
iHOPBCL2L13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:25:23 CEST 2017

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