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SCCPDH (saccharopine dehydrogenase (putative))

Identity

Alias_symbol (synonym)CGI-49
NET11
Other alias
HGNC (Hugo) SCCPDH
LocusID (NCBI) 51097
Atlas_Id 73030
Location 1q44  [Link to chromosome band 1q44]
Location_base_pair Starts at 246724076 and ends at 246768138 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADNP (20q13.13) / SCCPDH (1q44)PVT1 (8q24.21) / SCCPDH (1q44)SCCPDH (1q44) / ARAP2 (4p14)
SCCPDH (1q44) / CNST (1q44)SCCPDH (1q44) / LUM (12q21.33)SCCPDH (1q44) / SMARCC2 (12q13.2)
SCCPDH (1q44) / TCF3 (19p13.3)ZNF670-ZNF695 (1q44) / SCCPDH (1q44)

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)SCCPDH   24275
Cards
Entrez_Gene (NCBI)SCCPDH  51097  saccharopine dehydrogenase (putative)
AliasesCGI-49; NET11
GeneCards (Weizmann)SCCPDH
Ensembl hg19 (Hinxton)ENSG00000143653 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143653 [Gene_View]  chr1:246724076-246768138 [Contig_View]  SCCPDH [Vega]
ICGC DataPortalENSG00000143653
TCGA cBioPortalSCCPDH
AceView (NCBI)SCCPDH
Genatlas (Paris)SCCPDH
WikiGenes51097
SOURCE (Princeton)SCCPDH
Genetics Home Reference (NIH)SCCPDH
Genomic and cartography
GoldenPath hg38 (UCSC)SCCPDH  -     chr1:246724076-246768138 +  1q44   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCCPDH  -     1q44   [Description]    (hg19-Feb_2009)
EnsemblSCCPDH - 1q44 [CytoView hg19]  SCCPDH - 1q44 [CytoView hg38]
Mapping of homologs : NCBISCCPDH [Mapview hg19]  SCCPDH [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF151807 AK075178 AW515488 BC026185 BG258610
RefSeq transcript (Entrez)NM_016002
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCCPDH
Cluster EST : UnigeneHs.498397 [ NCBI ]
CGAP (NCI)Hs.498397
Alternative Splicing GalleryENSG00000143653
Gene ExpressionSCCPDH [ NCBI-GEO ]   SCCPDH [ EBI - ARRAY_EXPRESS ]   SCCPDH [ SEEK ]   SCCPDH [ MEM ]
Gene Expression Viewer (FireBrowse)SCCPDH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51097
GTEX Portal (Tissue expression)SCCPDH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NBX0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NBX0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NBX0
Splice isoforms : SwissVarQ8NBX0
PhosPhoSitePlusQ8NBX0
Domains : Interpro (EBI)NAD(P)-bd_dom    Sacchrp_dh_NADP   
Domain families : Pfam (Sanger)Sacchrp_dh_NADP (PF03435)   
Domain families : Pfam (NCBI)pfam03435   
Conserved Domain (NCBI)SCCPDH
DMDM Disease mutations51097
Blocks (Seattle)SCCPDH
SuperfamilyQ8NBX0
Human Protein AtlasENSG00000143653
Peptide AtlasQ8NBX0
HPRD13038
IPIIPI00329600   IPI00641681   
Protein Interaction databases
DIP (DOE-UCLA)Q8NBX0
IntAct (EBI)Q8NBX0
FunCoupENSG00000143653
BioGRIDSCCPDH
STRING (EMBL)SCCPDH
ZODIACSCCPDH
Ontologies - Pathways
QuickGOQ8NBX0
Ontology : AmiGOplatelet degranulation  extracellular region  nucleus  mitochondrion  lipid particle  membrane  oxidoreductase activity  midbody  platelet alpha granule lumen  oxidation-reduction process  
Ontology : EGO-EBIplatelet degranulation  extracellular region  nucleus  mitochondrion  lipid particle  membrane  oxidoreductase activity  midbody  platelet alpha granule lumen  oxidation-reduction process  
NDEx NetworkSCCPDH
Atlas of Cancer Signalling NetworkSCCPDH
Wikipedia pathwaysSCCPDH
Orthology - Evolution
OrthoDB51097
GeneTree (enSembl)ENSG00000143653
Phylogenetic Trees/Animal Genes : TreeFamSCCPDH
HOVERGENQ8NBX0
HOGENOMQ8NBX0
Homologs : HomoloGeneSCCPDH
Homology/Alignments : Family Browser (UCSC)SCCPDH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCCPDH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCCPDH
dbVarSCCPDH
ClinVarSCCPDH
1000_GenomesSCCPDH 
Exome Variant ServerSCCPDH
ExAC (Exome Aggregation Consortium)SCCPDH (select the gene name)
Genetic variants : HAPMAP51097
Genomic Variants (DGV)SCCPDH [DGVbeta]
DECIPHERSCCPDH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCCPDH 
Mutations
ICGC Data PortalSCCPDH 
TCGA Data PortalSCCPDH 
Broad Tumor PortalSCCPDH
OASIS PortalSCCPDH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCCPDH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCCPDH
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 SCCPDH
DgiDB (Drug Gene Interaction Database)SCCPDH
DoCM (Curated mutations)SCCPDH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCCPDH (select a term)
intoGenSCCPDH
Cancer3DSCCPDH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenSCCPDH
Genetic Testing Registry SCCPDH
NextProtQ8NBX0 [Medical]
TSGene51097
GENETestsSCCPDH
Target ValidationSCCPDH
Huge Navigator SCCPDH [HugePedia]
snp3D : Map Gene to Disease51097
BioCentury BCIQSCCPDH
ClinGenSCCPDH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51097
Chemical/Pharm GKB GenePA142670949
Clinical trialSCCPDH
Miscellaneous
canSAR (ICR)SCCPDH (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCCPDH
EVEXSCCPDH
GoPubMedSCCPDH
iHOPSCCPDH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:37:19 CEST 2017

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