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

BDH1 (3-hydroxybutyrate dehydrogenase 1)

Identity

Alias_namesmember 1
BDH
Alias_symbol (synonym)SDR9C1
Other alias
HGNC (Hugo) BDH1
LocusID (NCBI) 622
Atlas_Id 53981
Location 3q29  [Link to chromosome band 3q29]
Location_base_pair Starts at 197509783 and ends at 197555987 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BDH1 (3q29) / UBR3 (2q31.1)BDH1 (3q29) / ZBBX (3q26.1)DLG1 (3q29) / BDH1 (3q29)
NEK11 (3q22.1) / BDH1 (3q29)BDH1 3q29 / ZBBX 3q26.1DLG1 3q29 / BDH1 3q29
NEK11 3q22.1 / BDH1 3q29

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)BDH1   1027
Cards
Entrez_Gene (NCBI)BDH1  622  3-hydroxybutyrate dehydrogenase 1
AliasesBDH; SDR9C1
GeneCards (Weizmann)BDH1
Ensembl hg19 (Hinxton)ENSG00000161267 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161267 [Gene_View]  chr3:197509783-197555987 [Contig_View]  BDH1 [Vega]
ICGC DataPortalENSG00000161267
TCGA cBioPortalBDH1
AceView (NCBI)BDH1
Genatlas (Paris)BDH1
WikiGenes622
SOURCE (Princeton)BDH1
Genetics Home Reference (NIH)BDH1
Genomic and cartography
GoldenPath hg38 (UCSC)BDH1  -     chr3:197509783-197555987 -  3q29   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BDH1  -     3q29   [Description]    (hg19-Feb_2009)
EnsemblBDH1 - 3q29 [CytoView hg19]  BDH1 - 3q29 [CytoView hg38]
Mapping of homologs : NCBIBDH1 [Mapview hg19]  BDH1 [Mapview hg38]
OMIM603063   
Gene and transcription
Genbank (Entrez)AK126701 AV645953 BC005844 BC011964 BC019317
RefSeq transcript (Entrez)NM_004051 NM_203314 NM_203315
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_187534
Consensus coding sequences : CCDS (NCBI)BDH1
Cluster EST : UnigeneHs.274539 [ NCBI ]
CGAP (NCI)Hs.274539
Alternative Splicing GalleryENSG00000161267
Gene ExpressionBDH1 [ NCBI-GEO ]   BDH1 [ EBI - ARRAY_EXPRESS ]   BDH1 [ SEEK ]   BDH1 [ MEM ]
Gene Expression Viewer (FireBrowse)BDH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)622
GTEX Portal (Tissue expression)BDH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02338   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02338  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02338
Splice isoforms : SwissVarQ02338
PhosPhoSitePlusQ02338
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)NAD(P)-bd_dom    Sc_DH/Rdtase_CS    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)BDH1
DMDM Disease mutations622
Blocks (Seattle)BDH1
SuperfamilyQ02338
Human Protein AtlasENSG00000161267
Peptide AtlasQ02338
HPRD04344
IPIIPI00025341   IPI00925346   IPI00925592   IPI00925842   IPI00926064   IPI00926272   IPI00926718   IPI00926954   
Protein Interaction databases
DIP (DOE-UCLA)Q02338
IntAct (EBI)Q02338
FunCoupENSG00000161267
BioGRIDBDH1
STRING (EMBL)BDH1
ZODIACBDH1
Ontologies - Pathways
QuickGOQ02338
Ontology : AmiGO3-hydroxybutyrate dehydrogenase activity  3-hydroxybutyrate dehydrogenase activity  nucleoplasm  mitochondrion  mitochondrial matrix  ketone body biosynthetic process  ketone body catabolic process  oxidation-reduction process  matrix side of mitochondrial inner membrane  
Ontology : EGO-EBI3-hydroxybutyrate dehydrogenase activity  3-hydroxybutyrate dehydrogenase activity  nucleoplasm  mitochondrion  mitochondrial matrix  ketone body biosynthetic process  ketone body catabolic process  oxidation-reduction process  matrix side of mitochondrial inner membrane  
Pathways : KEGGSynthesis and degradation of ketone bodies    Butanoate metabolism   
NDEx NetworkBDH1
Atlas of Cancer Signalling NetworkBDH1
Wikipedia pathwaysBDH1
Orthology - Evolution
OrthoDB622
GeneTree (enSembl)ENSG00000161267
Phylogenetic Trees/Animal Genes : TreeFamBDH1
HOVERGENQ02338
HOGENOMQ02338
Homologs : HomoloGeneBDH1
Homology/Alignments : Family Browser (UCSC)BDH1
Gene fusions - Rearrangements
Fusion : MitelmanBDH1/ZBBX [3q29/3q26.1]  
Fusion : MitelmanNEK11/BDH1 [3q22.1/3q29]  [t(3;3)(q22;q29)]  
Fusion: TCGABDH1 3q29 ZBBX 3q26.1 LGG
Fusion: TCGADLG1 3q29 BDH1 3q29 LUSC
Fusion: TCGANEK11 3q22.1 BDH1 3q29 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBDH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BDH1
dbVarBDH1
ClinVarBDH1
1000_GenomesBDH1 
Exome Variant ServerBDH1
ExAC (Exome Aggregation Consortium)BDH1 (select the gene name)
Genetic variants : HAPMAP622
Genomic Variants (DGV)BDH1 [DGVbeta]
DECIPHERBDH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBDH1 
Mutations
ICGC Data PortalBDH1 
TCGA Data PortalBDH1 
Broad Tumor PortalBDH1
OASIS PortalBDH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBDH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBDH1
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 BDH1
DgiDB (Drug Gene Interaction Database)BDH1
DoCM (Curated mutations)BDH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BDH1 (select a term)
intoGenBDH1
Cancer3DBDH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603063   
Orphanet
MedgenBDH1
Genetic Testing Registry BDH1
NextProtQ02338 [Medical]
TSGene622
GENETestsBDH1
Target ValidationBDH1
Huge Navigator BDH1 [HugePedia]
snp3D : Map Gene to Disease622
BioCentury BCIQBDH1
ClinGenBDH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD622
Chemical/Pharm GKB GenePA25331
Clinical trialBDH1
Miscellaneous
canSAR (ICR)BDH1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBDH1
EVEXBDH1
GoPubMedBDH1
iHOPBDH1
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 : Tue Aug 1 16:56:03 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.