Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NSDHL (NAD(P) dependent steroid dehydrogenase-like)

Identity

Alias_symbol (synonym)XAP104
H105e3
SDR31E1
Other aliasH105E3
HGNC (Hugo) NSDHL
LocusID (NCBI) 50814
Atlas_Id 70981
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 152830967 and ends at 152869363 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NSDHL (Xq28) / RPL10 (Xq28)

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)NSDHL   13398
Cards
Entrez_Gene (NCBI)NSDHL  50814  NAD(P) dependent steroid dehydrogenase-like
AliasesH105E3; SDR31E1; XAP104
GeneCards (Weizmann)NSDHL
Ensembl hg19 (Hinxton)ENSG00000147383 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147383 [Gene_View]  chrX:152830967-152869363 [Contig_View]  NSDHL [Vega]
ICGC DataPortalENSG00000147383
TCGA cBioPortalNSDHL
AceView (NCBI)NSDHL
Genatlas (Paris)NSDHL
WikiGenes50814
SOURCE (Princeton)NSDHL
Genetics Home Reference (NIH)NSDHL
Genomic and cartography
GoldenPath hg38 (UCSC)NSDHL  -     chrX:152830967-152869363 +  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSDHL  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblNSDHL - Xq28 [CytoView hg19]  NSDHL - Xq28 [CytoView hg38]
Mapping of homologs : NCBINSDHL [Mapview hg19]  NSDHL [Mapview hg38]
OMIM300275   300831   308050   
Gene and transcription
Genbank (Entrez)AK026549 AM393176 AM393670 BC000245 BC007816
RefSeq transcript (Entrez)NM_001129765 NM_015922
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NSDHL
Cluster EST : UnigeneHs.57698 [ NCBI ]
CGAP (NCI)Hs.57698
Alternative Splicing GalleryENSG00000147383
Gene ExpressionNSDHL [ NCBI-GEO ]   NSDHL [ EBI - ARRAY_EXPRESS ]   NSDHL [ SEEK ]   NSDHL [ MEM ]
Gene Expression Viewer (FireBrowse)NSDHL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50814
GTEX Portal (Tissue expression)NSDHL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15738   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15738  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15738
Splice isoforms : SwissVarQ15738
Catalytic activity : Enzyme1.1.1.170 [ Enzyme-Expasy ]   1.1.1.1701.1.1.170 [ IntEnz-EBI ]   1.1.1.170 [ BRENDA ]   1.1.1.170 [ KEGG ]   
PhosPhoSitePlusQ15738
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)NSDHL
DMDM Disease mutations50814
Blocks (Seattle)NSDHL
SuperfamilyQ15738
Human Protein AtlasENSG00000147383
Peptide AtlasQ15738
HPRD02229
IPIIPI00019407   IPI00646262   
Protein Interaction databases
DIP (DOE-UCLA)Q15738
IntAct (EBI)Q15738
FunCoupENSG00000147383
BioGRIDNSDHL
STRING (EMBL)NSDHL
ZODIACNSDHL
Ontologies - Pathways
QuickGOQ15738
Ontology : AmiGOC-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity  hair follicle development  3-beta-hydroxy-delta5-steroid dehydrogenase activity  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  cholesterol biosynthetic process  smoothened signaling pathway  integral component of membrane  sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity  oxidation-reduction process  labyrinthine layer blood vessel development  
Ontology : EGO-EBIC-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity  hair follicle development  3-beta-hydroxy-delta5-steroid dehydrogenase activity  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  cholesterol biosynthetic process  smoothened signaling pathway  integral component of membrane  sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity  oxidation-reduction process  labyrinthine layer blood vessel development  
Pathways : KEGGSteroid biosynthesis   
NDEx NetworkNSDHL
Atlas of Cancer Signalling NetworkNSDHL
Wikipedia pathwaysNSDHL
Orthology - Evolution
OrthoDB50814
GeneTree (enSembl)ENSG00000147383
Phylogenetic Trees/Animal Genes : TreeFamNSDHL
HOVERGENQ15738
HOGENOMQ15738
Homologs : HomoloGeneNSDHL
Homology/Alignments : Family Browser (UCSC)NSDHL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSDHL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSDHL
dbVarNSDHL
ClinVarNSDHL
1000_GenomesNSDHL 
Exome Variant ServerNSDHL
ExAC (Exome Aggregation Consortium)NSDHL (select the gene name)
Genetic variants : HAPMAP50814
Genomic Variants (DGV)NSDHL [DGVbeta]
DECIPHERNSDHL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSDHL 
Mutations
ICGC Data PortalNSDHL 
TCGA Data PortalNSDHL 
Broad Tumor PortalNSDHL
OASIS PortalNSDHL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSDHL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNSDHL
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)X-chromosome gene database
BioMutasearch NSDHL
DgiDB (Drug Gene Interaction Database)NSDHL
DoCM (Curated mutations)NSDHL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NSDHL (select a term)
intoGenNSDHL
Cancer3DNSDHL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300275    300831    308050   
Orphanet2136    19639   
MedgenNSDHL
Genetic Testing Registry NSDHL
NextProtQ15738 [Medical]
TSGene50814
GENETestsNSDHL
Target ValidationNSDHL
Huge Navigator NSDHL [HugePedia]
snp3D : Map Gene to Disease50814
BioCentury BCIQNSDHL
ClinGenNSDHL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50814
Chemical/Pharm GKB GenePA134959020
Clinical trialNSDHL
Miscellaneous
canSAR (ICR)NSDHL (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNSDHL
EVEXNSDHL
GoPubMedNSDHL
iHOPNSDHL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:33:08 CEST 2017

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