Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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

HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)

Identity

Alias_symbol (synonym)C(27)-3BETA-HSD
SDR11E3
Other aliasCBAS1
PFIC4
HGNC (Hugo) HSD3B7
LocusID (NCBI) 80270
Atlas_Id 64438
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30996519 and ends at 31000473 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)HSD3B7   18324
Cards
Entrez_Gene (NCBI)HSD3B7  80270  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
AliasesCBAS1; PFIC4; SDR11E3
GeneCards (Weizmann)HSD3B7
Ensembl hg19 (Hinxton)ENSG00000099377 [Gene_View]  chr16:30996519-31000473 [Contig_View]  HSD3B7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000099377 [Gene_View]  chr16:30996519-31000473 [Contig_View]  HSD3B7 [Vega]
ICGC DataPortalENSG00000099377
TCGA cBioPortalHSD3B7
AceView (NCBI)HSD3B7
Genatlas (Paris)HSD3B7
WikiGenes80270
SOURCE (Princeton)HSD3B7
Genetics Home Reference (NIH)HSD3B7
Genomic and cartography
GoldenPath hg19 (UCSC)HSD3B7  -     chr16:30996519-31000473 +  16p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSD3B7  -     16p11.2   [Description]    (hg38-Dec_2013)
EnsemblHSD3B7 - 16p11.2 [CytoView hg19]  HSD3B7 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIHSD3B7 [Mapview hg19]  HSD3B7 [Mapview hg38]
OMIM607764   607765   
Gene and transcription
Genbank (Entrez)AF277719 AK057436 AK290950 AK292068 BC004929
RefSeq transcript (Entrez)NM_001142777 NM_001142778 NM_025193
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_012346 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)HSD3B7
Cluster EST : UnigeneHs.460618 [ NCBI ]
CGAP (NCI)Hs.460618
Alternative Splicing GalleryENSG00000099377
Gene ExpressionHSD3B7 [ NCBI-GEO ]   HSD3B7 [ EBI - ARRAY_EXPRESS ]   HSD3B7 [ SEEK ]   HSD3B7 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD3B7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80270
GTEX Portal (Tissue expression)HSD3B7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2F3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2F3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2F3
Splice isoforms : SwissVarQ9H2F3
Catalytic activity : Enzyme1.1.1.- [ Enzyme-Expasy ]   1.1.1.-1.1.1.- [ IntEnz-EBI ]   1.1.1.- [ BRENDA ]   1.1.1.- [ KEGG ]   
PhosPhoSitePlusQ9H2F3
Domains : Interpro (EBI)3Beta_OHSteriod_DH/Estase    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)3Beta_HSD (PF01073)   
Domain families : Pfam (NCBI)pfam01073   
Conserved Domain (NCBI)HSD3B7
DMDM Disease mutations80270
Blocks (Seattle)HSD3B7
SuperfamilyQ9H2F3
Human Protein AtlasENSG00000099377
Peptide AtlasQ9H2F3
HPRD09680
IPIIPI00106783   IPI00065225   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2F3
IntAct (EBI)Q9H2F3
FunCoupENSG00000099377
BioGRIDHSD3B7
STRING (EMBL)HSD3B7
ZODIACHSD3B7
Ontologies - Pathways
QuickGOQ9H2F3
Ontology : AmiGO3-beta-hydroxy-delta5-steroid dehydrogenase activity  protein binding  cellular_component  endoplasmic reticulum membrane  bile acid biosynthetic process  bile acid metabolic process  integral component of membrane  small molecule metabolic process  cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity  oxidation-reduction process  
Ontology : EGO-EBI3-beta-hydroxy-delta5-steroid dehydrogenase activity  protein binding  cellular_component  endoplasmic reticulum membrane  bile acid biosynthetic process  bile acid metabolic process  integral component of membrane  small molecule metabolic process  cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity  oxidation-reduction process  
Pathways : KEGGPrimary bile acid biosynthesis   
NDEx NetworkHSD3B7
Atlas of Cancer Signalling NetworkHSD3B7
Wikipedia pathwaysHSD3B7
Orthology - Evolution
OrthoDB80270
GeneTree (enSembl)ENSG00000099377
Phylogenetic Trees/Animal Genes : TreeFamHSD3B7
HOVERGENQ9H2F3
HOGENOMQ9H2F3
Homologs : HomoloGeneHSD3B7
Homology/Alignments : Family Browser (UCSC)HSD3B7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD3B7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD3B7
dbVarHSD3B7
ClinVarHSD3B7
1000_GenomesHSD3B7 
Exome Variant ServerHSD3B7
ExAC (Exome Aggregation Consortium)HSD3B7 (select the gene name)
Genetic variants : HAPMAP80270
Genomic Variants (DGV)HSD3B7 [DGVbeta]
DECIPHER (Syndromes)16:30996519-31000473  ENSG00000099377
CONAN: Copy Number AnalysisHSD3B7 
Mutations
ICGC Data PortalHSD3B7 
TCGA Data PortalHSD3B7 
Broad Tumor PortalHSD3B7
OASIS PortalHSD3B7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD3B7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD3B7
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 HSD3B7
DgiDB (Drug Gene Interaction Database)HSD3B7
DoCM (Curated mutations)HSD3B7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD3B7 (select a term)
intoGenHSD3B7
Cancer3DHSD3B7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607764    607765   
Orphanet11327   
MedgenHSD3B7
Genetic Testing Registry HSD3B7
NextProtQ9H2F3 [Medical]
TSGene80270
GENETestsHSD3B7
Huge Navigator HSD3B7 [HugePedia]
snp3D : Map Gene to Disease80270
BioCentury BCIQHSD3B7
ClinGenHSD3B7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80270
Chemical/Pharm GKB GenePA134940289
Clinical trialHSD3B7
Miscellaneous
canSAR (ICR)HSD3B7 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD3B7
EVEXHSD3B7
GoPubMedHSD3B7
iHOPHSD3B7
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 Mar 14 12:08:15 CET 2017

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.