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BTBD18 (BTB domain containing 18)

Identity

Alias_namesBTB (POZ) domain containing 18
Other alias-
HGNC (Hugo) BTBD18
LocusID (NCBI) 643376
Atlas_Id 54064
Location 11q12.1  [Link to chromosome band 11q12]
Location_base_pair Starts at 57743514 and ends at 57751781 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)
BTBD18 (11q12.1) / KMT2A (11q23.3)KMT2A (11q23.3) / BTBD18 (11q12.1)BTBD18 KMT2A 11q23.3
KMT2A 11q23.3 BTBD18

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(11)(q13q23) KMT2A/BTBD18


External links

Nomenclature
HGNC (Hugo)BTBD18   37214
Cards
Entrez_Gene (NCBI)BTBD18  643376  BTB domain containing 18
Aliases
GeneCards (Weizmann)BTBD18
Ensembl hg19 (Hinxton)ENSG00000233436 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000233436 [Gene_View]  chr11:57743514-57751781 [Contig_View]  BTBD18 [Vega]
ICGC DataPortalENSG00000233436
TCGA cBioPortalBTBD18
AceView (NCBI)BTBD18
Genatlas (Paris)BTBD18
WikiGenes643376
SOURCE (Princeton)BTBD18
Genetics Home Reference (NIH)BTBD18
Genomic and cartography
GoldenPath hg38 (UCSC)BTBD18  -     chr11:57743514-57751781 -  11q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BTBD18  -     11q12.1   [Description]    (hg19-Feb_2009)
EnsemblBTBD18 - 11q12.1 [CytoView hg19]  BTBD18 - 11q12.1 [CytoView hg38]
Mapping of homologs : NCBIBTBD18 [Mapview hg19]  BTBD18 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI699344 BC157853 BC157854 DC346943
RefSeq transcript (Entrez)NM_001145101
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BTBD18
Cluster EST : UnigeneHs.606355 [ NCBI ]
CGAP (NCI)Hs.606355
Alternative Splicing GalleryENSG00000233436
Gene ExpressionBTBD18 [ NCBI-GEO ]   BTBD18 [ EBI - ARRAY_EXPRESS ]   BTBD18 [ SEEK ]   BTBD18 [ MEM ]
Gene Expression Viewer (FireBrowse)BTBD18 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)643376
GTEX Portal (Tissue expression)BTBD18
Human Protein AtlasENSG00000233436-BTBD18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtB2RXH4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtB2RXH4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProB2RXH4
Splice isoforms : SwissVarB2RXH4
PhosPhoSitePlusB2RXH4
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BTB/POZ_dom    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BTB (PF00651)   
Domain families : Pfam (NCBI)pfam00651   
Domain families : Smart (EMBL)BTB (SM00225)  
Conserved Domain (NCBI)BTBD18
DMDM Disease mutations643376
Blocks (Seattle)BTBD18
SuperfamilyB2RXH4
Human Protein Atlas [tissue]ENSG00000233436-BTBD18 [tissue]
Peptide AtlasB2RXH4
IPIIPI00896366   IPI00977689   
Protein Interaction databases
DIP (DOE-UCLA)B2RXH4
IntAct (EBI)B2RXH4
FunCoupENSG00000233436
BioGRIDBTBD18
STRING (EMBL)BTBD18
ZODIACBTBD18
Ontologies - Pathways
QuickGOB2RXH4
Ontology : AmiGOubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
NDEx NetworkBTBD18
Atlas of Cancer Signalling NetworkBTBD18
Wikipedia pathwaysBTBD18
Orthology - Evolution
OrthoDB643376
GeneTree (enSembl)ENSG00000233436
Phylogenetic Trees/Animal Genes : TreeFamBTBD18
HOVERGENB2RXH4
HOGENOMB2RXH4
Homologs : HomoloGeneBTBD18
Homology/Alignments : Family Browser (UCSC)BTBD18
Gene fusions - Rearrangements
Tumor Fusion PortalBTBD18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTBD18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTBD18
dbVarBTBD18
ClinVarBTBD18
1000_GenomesBTBD18 
Exome Variant ServerBTBD18
ExAC (Exome Aggregation Consortium)ENSG00000233436
GNOMAD BrowserENSG00000233436
Genetic variants : HAPMAP643376
Genomic Variants (DGV)BTBD18 [DGVbeta]
DECIPHERBTBD18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBTBD18 
Mutations
ICGC Data PortalBTBD18 
TCGA Data PortalBTBD18 
Broad Tumor PortalBTBD18
OASIS PortalBTBD18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBTBD18  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBTBD18
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BTBD18
DgiDB (Drug Gene Interaction Database)BTBD18
DoCM (Curated mutations)BTBD18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BTBD18 (select a term)
intoGenBTBD18
Cancer3DBTBD18(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETBTBD18
MedgenBTBD18
Genetic Testing Registry BTBD18
NextProtB2RXH4 [Medical]
TSGene643376
GENETestsBTBD18
Target ValidationBTBD18
Huge Navigator BTBD18 [HugePedia]
snp3D : Map Gene to Disease643376
BioCentury BCIQBTBD18
ClinGenBTBD18
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD643376
Chemical/Pharm GKB GenePA165543229
Clinical trialBTBD18
Miscellaneous
canSAR (ICR)BTBD18 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBTBD18
EVEXBTBD18
GoPubMedBTBD18
iHOPBTBD18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:05:11 CET 2017

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