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KBTBD13 (kelch repeat and BTB (POZ) domain containing 13)

Identity

Alias_nameskelch repeat and BTB (POZ) domain containing 13
Alias_symbol (synonym)hCG_1645727
NEM6
Other aliasHCG1645727
HGNC (Hugo) KBTBD13
LocusID (NCBI) 390594
Atlas_Id 64750
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 65369154 and ends at 65372276 bp from pter ( according to hg19-Feb_2009)

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)KBTBD13   37227
LRG (Locus Reference Genomic)LRG_682
Cards
Entrez_Gene (NCBI)KBTBD13  390594  kelch repeat and BTB (POZ) domain containing 13
AliasesHCG1645727; NEM6
GeneCards (Weizmann)KBTBD13
Ensembl hg19 (Hinxton) [Gene_View]  chr15:65369154-65372276 [Contig_View]  KBTBD13 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr15:65369154-65372276 [Contig_View]  KBTBD13 [Vega]
TCGA cBioPortalKBTBD13
AceView (NCBI)KBTBD13
Genatlas (Paris)KBTBD13
WikiGenes390594
SOURCE (Princeton)KBTBD13
Genetics Home Reference (NIH)KBTBD13
Genomic and cartography
GoldenPath hg19 (UCSC)KBTBD13  -     chr15:65369154-65372276 +  15q22.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KBTBD13  -     15q22.31   [Description]    (hg38-Dec_2013)
EnsemblKBTBD13 - 15q22.31 [CytoView hg19]  KBTBD13 - 15q22.31 [CytoView hg38]
Mapping of homologs : NCBIKBTBD13 [Mapview hg19]  KBTBD13 [Mapview hg38]
OMIM609273   613727   
Gene and transcription
Genbank (Entrez)DB331058
RefSeq transcript (Entrez)NM_001101362
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_021411 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)KBTBD13
Cluster EST : UnigeneHs.586890 [ NCBI ]
CGAP (NCI)Hs.586890
Gene ExpressionKBTBD13 [ NCBI-GEO ]   KBTBD13 [ EBI - ARRAY_EXPRESS ]   KBTBD13 [ SEEK ]   KBTBD13 [ MEM ]
Gene Expression Viewer (FireBrowse)KBTBD13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)390594
GTEX Portal (Tissue expression)KBTBD13
Protein : pattern, domain, 3D structure
UniProt/SwissProtC9JR72   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtC9JR72  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProC9JR72
Splice isoforms : SwissVarC9JR72
PhosPhoSitePlusC9JR72
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BTB/POZ-like    BTB/POZ_fold    BTB_POZ    Kelch-typ_b-propeller    Kelch_1   
Domain families : Pfam (Sanger)BTB (PF00651)    Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam00651    pfam01344   
Domain families : Smart (EMBL)BTB (SM00225)  Kelch (SM00612)  
Conserved Domain (NCBI)KBTBD13
DMDM Disease mutations390594
Blocks (Seattle)KBTBD13
SuperfamilyC9JR72
Peptide AtlasC9JR72
IPIIPI00161103   
Protein Interaction databases
DIP (DOE-UCLA)C9JR72
IntAct (EBI)C9JR72
BioGRIDKBTBD13
STRING (EMBL)KBTBD13
ZODIACKBTBD13
Ontologies - Pathways
QuickGOC9JR72
Ontology : AmiGOcytoplasm  protein ubiquitination  
Ontology : EGO-EBIcytoplasm  protein ubiquitination  
NDEx NetworkKBTBD13
Atlas of Cancer Signalling NetworkKBTBD13
Wikipedia pathwaysKBTBD13
Orthology - Evolution
OrthoDB390594
Phylogenetic Trees/Animal Genes : TreeFamKBTBD13
HOVERGENC9JR72
HOGENOMC9JR72
Homologs : HomoloGeneKBTBD13
Homology/Alignments : Family Browser (UCSC)KBTBD13
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKBTBD13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KBTBD13
dbVarKBTBD13
ClinVarKBTBD13
1000_GenomesKBTBD13 
Exome Variant ServerKBTBD13
ExAC (Exome Aggregation Consortium)KBTBD13 (select the gene name)
Genetic variants : HAPMAP390594
Genomic Variants (DGV)KBTBD13 [DGVbeta]
DECIPHER (Syndromes)15:65369154-65372276  
CONAN: Copy Number AnalysisKBTBD13 
Mutations
ICGC Data PortalKBTBD13 
TCGA Data PortalKBTBD13 
Broad Tumor PortalKBTBD13
OASIS PortalKBTBD13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKBTBD13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKBTBD13
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KBTBD13
DgiDB (Drug Gene Interaction Database)KBTBD13
DoCM (Curated mutations)KBTBD13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KBTBD13 (select a term)
intoGenKBTBD13
Cancer3DKBTBD13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609273    613727   
Orphanet17909   
MedgenKBTBD13
Genetic Testing Registry KBTBD13
NextProtC9JR72 [Medical]
TSGene390594
GENETestsKBTBD13
Huge Navigator KBTBD13 [HugePedia]
snp3D : Map Gene to Disease390594
BioCentury BCIQKBTBD13
ClinGenKBTBD13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD390594
Chemical/Pharm GKB GenePA165479144
Clinical trialKBTBD13
Miscellaneous
canSAR (ICR)KBTBD13 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKBTBD13
EVEXKBTBD13
GoPubMedKBTBD13
iHOPKBTBD13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:09:18 CET 2017

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