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DHCR7 (7-dehydrocholesterol reductase)

Identity

Alias_namesSLOS
Smith-Lemli-Opitz syndrome
Other alias
HGNC (Hugo) DHCR7
LocusID (NCBI) 1717
Atlas_Id 53560
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 71434411 and ends at 71448431 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)
CADPS2 (7q31.32) / DHCR7 (11q13.4)DENND4B (1q21.3) / DHCR7 (11q13.4)DHCR7 (11q13.4) / AP000867.1 ()
DHCR7 (11q13.4) / DHCR7 (11q13.4)CADPS2 7q31.32 / DHCR7 11q13.4DHCR7 11q13.4 AP000867.1

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;11)(q31;q13) CADPS2/DHCR7

External links

Nomenclature
HGNC (Hugo)DHCR7   2860
LRG (Locus Reference Genomic)LRG_340
Cards
Entrez_Gene (NCBI)DHCR7  1717  7-dehydrocholesterol reductase
AliasesSLOS
GeneCards (Weizmann)DHCR7
Ensembl hg19 (Hinxton)ENSG00000172893 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172893 [Gene_View]  ENSG00000172893 [Sequence]  chr11:71434411-71448431 [Contig_View]  DHCR7 [Vega]
ICGC DataPortalENSG00000172893
TCGA cBioPortalDHCR7
AceView (NCBI)DHCR7
Genatlas (Paris)DHCR7
WikiGenes1717
SOURCE (Princeton)DHCR7
Genetics Home Reference (NIH)DHCR7
Genomic and cartography
GoldenPath hg38 (UCSC)DHCR7  -     chr11:71434411-71448431 -  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHCR7  -     11q13.4   [Description]    (hg19-Feb_2009)
EnsemblDHCR7 - 11q13.4 [CytoView hg19]  DHCR7 - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBIDHCR7 [Mapview hg19]  DHCR7 [Mapview hg38]
OMIM270400   602858   
Gene and transcription
Genbank (Entrez)AF034544 AF062481 AF067127 AF096305 AI888720
RefSeq transcript (Entrez)NM_001163817 NM_001360
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DHCR7
Cluster EST : UnigeneHs.503134 [ NCBI ]
CGAP (NCI)Hs.503134
Alternative Splicing GalleryENSG00000172893
Gene ExpressionDHCR7 [ NCBI-GEO ]   DHCR7 [ EBI - ARRAY_EXPRESS ]   DHCR7 [ SEEK ]   DHCR7 [ MEM ]
Gene Expression Viewer (FireBrowse)DHCR7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1717
GTEX Portal (Tissue expression)DHCR7
Human Protein AtlasENSG00000172893-DHCR7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBM7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBM7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBM7
Splice isoforms : SwissVarQ9UBM7
Catalytic activity : Enzyme1.3.1.21 [ Enzyme-Expasy ]   1.3.1.211.3.1.21 [ IntEnz-EBI ]   1.3.1.21 [ BRENDA ]   1.3.1.21 [ KEGG ]   
PhosPhoSitePlusQ9UBM7
Domaine pattern : Prosite (Expaxy)STEROL_REDUCT_1 (PS01017)    STEROL_REDUCT_2 (PS01018)   
Domains : Interpro (EBI)Ergosterol_biosynth_ERG4_ERG24    Sterol_reductase_CS   
Domain families : Pfam (Sanger)ERG4_ERG24 (PF01222)   
Domain families : Pfam (NCBI)pfam01222   
Conserved Domain (NCBI)DHCR7
DMDM Disease mutations1717
Blocks (Seattle)DHCR7
SuperfamilyQ9UBM7
Human Protein Atlas [tissue]ENSG00000172893-DHCR7 [tissue]
Peptide AtlasQ9UBM7
HPRD04174
IPIIPI00294501   IPI00977510   IPI00978862   IPI00981945   IPI00983546   IPI00979569   IPI00980602   IPI00981291   IPI00978212   IPI00979939   IPI00982884   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBM7
IntAct (EBI)Q9UBM7
FunCoupENSG00000172893
BioGRIDDHCR7
STRING (EMBL)DHCR7
ZODIACDHCR7
Ontologies - Pathways
QuickGOQ9UBM7
Ontology : AmiGOblood vessel development  nuclear outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  cholesterol biosynthetic process  post-embryonic development  sterol delta7 reductase activity  membrane  brassinosteroid biosynthetic process  cell differentiation  integral component of endoplasmic reticulum membrane  lung development  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  multicellular organism growth  regulation of cell proliferation  regulation of cholesterol biosynthetic process  7-dehydrocholesterol reductase activity  7-dehydrocholesterol reductase activity  NADP binding  oxidation-reduction process  
Ontology : EGO-EBIblood vessel development  nuclear outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  cholesterol biosynthetic process  post-embryonic development  sterol delta7 reductase activity  membrane  brassinosteroid biosynthetic process  cell differentiation  integral component of endoplasmic reticulum membrane  lung development  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  multicellular organism growth  regulation of cell proliferation  regulation of cholesterol biosynthetic process  7-dehydrocholesterol reductase activity  7-dehydrocholesterol reductase activity  NADP binding  oxidation-reduction process  
Pathways : KEGGBiosynthesis of steroids   
NDEx NetworkDHCR7
Atlas of Cancer Signalling NetworkDHCR7
Wikipedia pathwaysDHCR7
Orthology - Evolution
OrthoDB1717
GeneTree (enSembl)ENSG00000172893
Phylogenetic Trees/Animal Genes : TreeFamDHCR7
HOVERGENQ9UBM7
HOGENOMQ9UBM7
Homologs : HomoloGeneDHCR7
Homology/Alignments : Family Browser (UCSC)DHCR7
Gene fusions - Rearrangements
Fusion : MitelmanCADPS2/DHCR7 [7q31.32/11q13.4]  [t(7;11)(q31;q13)]  
Fusion PortalCADPS2 7q31.32 DHCR7 11q13.4 BRCA
Fusion PortalDHCR7 11q13.4 AP000867.1 BRCA
Fusion : QuiverDHCR7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHCR7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHCR7
dbVarDHCR7
ClinVarDHCR7
1000_GenomesDHCR7 
Exome Variant ServerDHCR7
ExAC (Exome Aggregation Consortium)ENSG00000172893
GNOMAD BrowserENSG00000172893
Genetic variants : HAPMAP1717
Genomic Variants (DGV)DHCR7 [DGVbeta]
DECIPHERDHCR7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDHCR7 
Mutations
ICGC Data PortalDHCR7 
TCGA Data PortalDHCR7 
Broad Tumor PortalDHCR7
OASIS PortalDHCR7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDHCR7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDHCR7
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 DHCR7
DgiDB (Drug Gene Interaction Database)DHCR7
DoCM (Curated mutations)DHCR7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DHCR7 (select a term)
intoGenDHCR7
Cancer3DDHCR7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM270400    602858   
Orphanet3574   
DisGeNETDHCR7
MedgenDHCR7
Genetic Testing Registry DHCR7
NextProtQ9UBM7 [Medical]
TSGene1717
GENETestsDHCR7
Target ValidationDHCR7
Huge Navigator DHCR7 [HugePedia]
snp3D : Map Gene to Disease1717
BioCentury BCIQDHCR7
ClinGenDHCR7 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1717
Chemical/Pharm GKB GenePA27321
Clinical trialDHCR7
Miscellaneous
canSAR (ICR)DHCR7 (select the gene name)
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDHCR7
EVEXDHCR7
GoPubMedDHCR7
iHOPDHCR7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:22:31 CEST 2018
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