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

DEGS1 (delta 4-desaturase, sphingolipid 1)

Identity

Alias_namesdegenerative spermatocyte homolog 1
Alias_symbol (synonym)MLD
Des-1
DES1
FADS7
DEGS-1
Other aliasDEGS
MIG15
HGNC (Hugo) DEGS1
LocusID (NCBI) 8560
Atlas_Id 56005
Location 1q42.11  [Link to chromosome band 1q42]
Location_base_pair Starts at 224370910 and ends at 224381142 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DEGS1 (1q42.11) / CDC73 (1q31.2)DEGS1 (1q42.11) / DEGS1 (1q42.11)DEGS1 (1q42.11) / DMPK (19q13.32)
DEGS1 (1q42.11) / SERINC1 (6q22.31)

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)DEGS1   13709
Cards
Entrez_Gene (NCBI)DEGS1  8560  delta 4-desaturase, sphingolipid 1
AliasesDEGS; DEGS-1; DES1; Des-1; 
FADS7; MIG15; MLD
GeneCards (Weizmann)DEGS1
Ensembl hg19 (Hinxton)ENSG00000143753 [Gene_View]  chr1:224370910-224381142 [Contig_View]  DEGS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143753 [Gene_View]  chr1:224370910-224381142 [Contig_View]  DEGS1 [Vega]
ICGC DataPortalENSG00000143753
TCGA cBioPortalDEGS1
AceView (NCBI)DEGS1
Genatlas (Paris)DEGS1
WikiGenes8560
SOURCE (Princeton)DEGS1
Genetics Home Reference (NIH)DEGS1
Genomic and cartography
GoldenPath hg19 (UCSC)DEGS1  -     chr1:224370910-224381142 +  1q42.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DEGS1  -     1q42.11   [Description]    (hg38-Dec_2013)
EnsemblDEGS1 - 1q42.11 [CytoView hg19]  DEGS1 - 1q42.11 [CytoView hg38]
Mapping of homologs : NCBIDEGS1 [Mapview hg19]  DEGS1 [Mapview hg38]
OMIM615843   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001321541 NM_001321542 NM_003676 NM_144780
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEGS1
Cluster EST : UnigeneHs.299878 [ NCBI ]
CGAP (NCI)Hs.299878
Alternative Splicing GalleryENSG00000143753
Gene ExpressionDEGS1 [ NCBI-GEO ]   DEGS1 [ EBI - ARRAY_EXPRESS ]   DEGS1 [ SEEK ]   DEGS1 [ MEM ]
Gene Expression Viewer (FireBrowse)DEGS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8560
GTEX Portal (Tissue expression)DEGS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15121   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15121  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15121
Splice isoforms : SwissVarO15121
PhosPhoSitePlusO15121
Domains : Interpro (EBI)DES1    DES1/DES2    Fatty_acid_desaturase_dom    Sphingolipid_d4-desaturase_N   
Domain families : Pfam (Sanger)FA_desaturase (PF00487)    Lipid_DES (PF08557)   
Domain families : Pfam (NCBI)pfam00487    pfam08557   
Domain families : Smart (EMBL)Lipid_DES (SM01269)  
Conserved Domain (NCBI)DEGS1
DMDM Disease mutations8560
Blocks (Seattle)DEGS1
SuperfamilyO15121
Human Protein AtlasENSG00000143753
Peptide AtlasO15121
HPRD13133
IPIIPI00021147   IPI00930092   IPI00641596   
Protein Interaction databases
DIP (DOE-UCLA)O15121
IntAct (EBI)O15121
FunCoupENSG00000143753
BioGRIDDEGS1
STRING (EMBL)DEGS1
ZODIACDEGS1
Ontologies - Pathways
QuickGOO15121
Ontology : AmiGOmitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  unsaturated fatty acid biosynthetic process  electron carrier activity  membrane  sphingolipid biosynthetic process  sphingolipid delta-4 desaturase activity  sphingolipid delta-4 desaturase activity  ceramide biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBImitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  unsaturated fatty acid biosynthetic process  electron carrier activity  membrane  sphingolipid biosynthetic process  sphingolipid delta-4 desaturase activity  sphingolipid delta-4 desaturase activity  ceramide biosynthetic process  oxidation-reduction process  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkDEGS1
Atlas of Cancer Signalling NetworkDEGS1
Wikipedia pathwaysDEGS1
Orthology - Evolution
OrthoDB8560
GeneTree (enSembl)ENSG00000143753
Phylogenetic Trees/Animal Genes : TreeFamDEGS1
HOVERGENO15121
HOGENOMO15121
Homologs : HomoloGeneDEGS1
Homology/Alignments : Family Browser (UCSC)DEGS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEGS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEGS1
dbVarDEGS1
ClinVarDEGS1
1000_GenomesDEGS1 
Exome Variant ServerDEGS1
ExAC (Exome Aggregation Consortium)DEGS1 (select the gene name)
Genetic variants : HAPMAP8560
Genomic Variants (DGV)DEGS1 [DGVbeta]
DECIPHER (Syndromes)1:224370910-224381142  ENSG00000143753
CONAN: Copy Number AnalysisDEGS1 
Mutations
ICGC Data PortalDEGS1 
TCGA Data PortalDEGS1 
Broad Tumor PortalDEGS1
OASIS PortalDEGS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEGS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEGS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEGS1
DgiDB (Drug Gene Interaction Database)DEGS1
DoCM (Curated mutations)DEGS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEGS1 (select a term)
intoGenDEGS1
Cancer3DDEGS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615843   
Orphanet
MedgenDEGS1
Genetic Testing Registry DEGS1
NextProtO15121 [Medical]
TSGene8560
GENETestsDEGS1
Huge Navigator DEGS1 [HugePedia]
snp3D : Map Gene to Disease8560
BioCentury BCIQDEGS1
ClinGenDEGS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8560
Chemical/Pharm GKB GenePA27250
Clinical trialDEGS1
Miscellaneous
canSAR (ICR)DEGS1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEGS1
EVEXDEGS1
GoPubMedDEGS1
iHOPDEGS1
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 13:03:04 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.