Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

BTBD1 (BTB domain containing 1)

Identity

Alias_namesBTB (POZ) domain containing 1
Other aliasC15orf1
NS5ATP8
HGNC (Hugo) BTBD1
LocusID (NCBI) 53339
Atlas_Id 60822
Location 15q25.2  [Link to chromosome band 15q25]
Location_base_pair Starts at 83016429 and ends at 83067354 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BTBD1 (15q25.2) / MESP1 (15q26.1)BTBD1 (15q25.2) / MRPL46 (15q25.3)BTBD1 (15q25.2) / NTRK3 (15q25.3)
NRIP1 (21q11.2) / BTBD1 (15q25.2)BTBD1 MESP1BTBD1 MRPL46

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)BTBD1   1120
Cards
Entrez_Gene (NCBI)BTBD1  53339  BTB domain containing 1
AliasesC15orf1; NS5ATP8
GeneCards (Weizmann)BTBD1
Ensembl hg19 (Hinxton)ENSG00000064726 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064726 [Gene_View]  chr15:83016429-83067354 [Contig_View]  BTBD1 [Vega]
ICGC DataPortalENSG00000064726
TCGA cBioPortalBTBD1
AceView (NCBI)BTBD1
Genatlas (Paris)BTBD1
WikiGenes53339
SOURCE (Princeton)BTBD1
Genetics Home Reference (NIH)BTBD1
Genomic and cartography
GoldenPath hg38 (UCSC)BTBD1  -     chr15:83016429-83067354 -  15q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BTBD1  -     15q25.2   [Description]    (hg19-Feb_2009)
EnsemblBTBD1 - 15q25.2 [CytoView hg19]  BTBD1 - 15q25.2 [CytoView hg38]
Mapping of homologs : NCBIBTBD1 [Mapview hg19]  BTBD1 [Mapview hg38]
OMIM608530   
Gene and transcription
Genbank (Entrez)AF257241 AF355402 AF529369 AK000731 AK225355
RefSeq transcript (Entrez)NM_001011885 NM_025238
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BTBD1
Cluster EST : UnigeneHs.459149 [ NCBI ]
CGAP (NCI)Hs.459149
Alternative Splicing GalleryENSG00000064726
Gene ExpressionBTBD1 [ NCBI-GEO ]   BTBD1 [ EBI - ARRAY_EXPRESS ]   BTBD1 [ SEEK ]   BTBD1 [ MEM ]
Gene Expression Viewer (FireBrowse)BTBD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53339
GTEX Portal (Tissue expression)BTBD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0C5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0C5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0C5
Splice isoforms : SwissVarQ9H0C5
PhosPhoSitePlusQ9H0C5
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB/POZ_dom    PHR    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)    PHR (PF08005)   
Domain families : Pfam (NCBI)pfam07707    pfam00651    pfam08005   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  
Conserved Domain (NCBI)BTBD1
DMDM Disease mutations53339
Blocks (Seattle)BTBD1
SuperfamilyQ9H0C5
Human Protein AtlasENSG00000064726
Peptide AtlasQ9H0C5
HPRD12251
IPIIPI00033866   IPI00552086   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0C5
IntAct (EBI)Q9H0C5
FunCoupENSG00000064726
BioGRIDBTBD1
STRING (EMBL)BTBD1
ZODIACBTBD1
Ontologies - Pathways
QuickGOQ9H0C5
Ontology : AmiGOP-body  protein binding  cytosol  SCF ubiquitin ligase complex  neurogenesis  regulation of proteolysis  ubiquitin protein ligase binding  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  regulation of protein binding  
Ontology : EGO-EBIP-body  protein binding  cytosol  SCF ubiquitin ligase complex  neurogenesis  regulation of proteolysis  ubiquitin protein ligase binding  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  regulation of protein binding  
NDEx NetworkBTBD1
Atlas of Cancer Signalling NetworkBTBD1
Wikipedia pathwaysBTBD1
Orthology - Evolution
OrthoDB53339
GeneTree (enSembl)ENSG00000064726
Phylogenetic Trees/Animal Genes : TreeFamBTBD1
HOVERGENQ9H0C5
HOGENOMQ9H0C5
Homologs : HomoloGeneBTBD1
Homology/Alignments : Family Browser (UCSC)BTBD1
Gene fusions - Rearrangements
Fusion: TCGABTBD1 MESP1
Fusion: TCGABTBD1 MRPL46
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTBD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTBD1
dbVarBTBD1
ClinVarBTBD1
1000_GenomesBTBD1 
Exome Variant ServerBTBD1
ExAC (Exome Aggregation Consortium)BTBD1 (select the gene name)
Genetic variants : HAPMAP53339
Genomic Variants (DGV)BTBD1 [DGVbeta]
DECIPHERBTBD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBTBD1 
Mutations
ICGC Data PortalBTBD1 
TCGA Data PortalBTBD1 
Broad Tumor PortalBTBD1
OASIS PortalBTBD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBTBD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBTBD1
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
BioMutasearch BTBD1
DgiDB (Drug Gene Interaction Database)BTBD1
DoCM (Curated mutations)BTBD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BTBD1 (select a term)
intoGenBTBD1
Cancer3DBTBD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608530   
Orphanet
MedgenBTBD1
Genetic Testing Registry BTBD1
NextProtQ9H0C5 [Medical]
TSGene53339
GENETestsBTBD1
Target ValidationBTBD1
Huge Navigator BTBD1 [HugePedia]
snp3D : Map Gene to Disease53339
BioCentury BCIQBTBD1
ClinGenBTBD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD53339
Chemical/Pharm GKB GenePA25438
Clinical trialBTBD1
Miscellaneous
canSAR (ICR)BTBD1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBTBD1
EVEXBTBD1
GoPubMedBTBD1
iHOPBTBD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:39:57 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.