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SEL1L2 (SEL1L2 ERAD E3 ligase adaptor subunit)

Identity

Alias_namesC20orf50
chromosome 20 open reading frame 50
sel-1 suppressor of lin-12-like 2 (C. elegans)
Alias_symbol (synonym)DKFZp434C1826
Other alias
HGNC (Hugo) SEL1L2
LocusID (NCBI) 80343
Atlas_Id 73100
Location 20p12.1  [Link to chromosome band 20p12]
Location_base_pair Starts at 13849398 and ends at 13990619 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CRLS1 (20p12.3) / SEL1L2 (20p12.1)PDAP1 (7q22.1) / SEL1L2 (20p12.1)TASP1 (20p12.1) / SEL1L2 (20p12.1)
CRLS1 SEL1L2TASP1 SEL1L2

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)SEL1L2   15897
Cards
Entrez_Gene (NCBI)SEL1L2  80343  SEL1L2 ERAD E3 ligase adaptor subunit
AliasesC20orf50
GeneCards (Weizmann)SEL1L2
Ensembl hg19 (Hinxton)ENSG00000101251 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101251 [Gene_View]  chr20:13849398-13990619 [Contig_View]  SEL1L2 [Vega]
ICGC DataPortalENSG00000101251
TCGA cBioPortalSEL1L2
AceView (NCBI)SEL1L2
Genatlas (Paris)SEL1L2
WikiGenes80343
SOURCE (Princeton)SEL1L2
Genetics Home Reference (NIH)SEL1L2
Genomic and cartography
GoldenPath hg38 (UCSC)SEL1L2  -     chr20:13849398-13990619 -  20p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEL1L2  -     20p12.1   [Description]    (hg19-Feb_2009)
EnsemblSEL1L2 - 20p12.1 [CytoView hg19]  SEL1L2 - 20p12.1 [CytoView hg38]
Mapping of homologs : NCBISEL1L2 [Mapview hg19]  SEL1L2 [Mapview hg38]
OMIM614289   
Gene and transcription
Genbank (Entrez)AK302170 AL137678 BC035741 BX649006 DA857535
RefSeq transcript (Entrez)NM_001271539 NM_025229
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEL1L2
Cluster EST : UnigeneHs.590879 [ NCBI ]
CGAP (NCI)Hs.590879
Alternative Splicing GalleryENSG00000101251
Gene ExpressionSEL1L2 [ NCBI-GEO ]   SEL1L2 [ EBI - ARRAY_EXPRESS ]   SEL1L2 [ SEEK ]   SEL1L2 [ MEM ]
Gene Expression Viewer (FireBrowse)SEL1L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80343
GTEX Portal (Tissue expression)SEL1L2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TEA6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TEA6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TEA6
Splice isoforms : SwissVarQ5TEA6
PhosPhoSitePlusQ5TEA6
Domains : Interpro (EBI)Sel1-like    TPR-like_helical_dom   
Domain families : Pfam (Sanger)Sel1 (PF08238)   
Domain families : Pfam (NCBI)pfam08238   
Domain families : Smart (EMBL)SEL1 (SM00671)  
Conserved Domain (NCBI)SEL1L2
DMDM Disease mutations80343
Blocks (Seattle)SEL1L2
SuperfamilyQ5TEA6
Human Protein AtlasENSG00000101251
Peptide AtlasQ5TEA6
IPIIPI00641035   IPI00295743   IPI00945868   IPI00945681   IPI00945329   
Protein Interaction databases
DIP (DOE-UCLA)Q5TEA6
IntAct (EBI)Q5TEA6
FunCoupENSG00000101251
BioGRIDSEL1L2
STRING (EMBL)SEL1L2
ZODIACSEL1L2
Ontologies - Pathways
QuickGOQ5TEA6
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkSEL1L2
Atlas of Cancer Signalling NetworkSEL1L2
Wikipedia pathwaysSEL1L2
Orthology - Evolution
OrthoDB80343
GeneTree (enSembl)ENSG00000101251
Phylogenetic Trees/Animal Genes : TreeFamSEL1L2
HOVERGENQ5TEA6
HOGENOMQ5TEA6
Homologs : HomoloGeneSEL1L2
Homology/Alignments : Family Browser (UCSC)SEL1L2
Gene fusions - Rearrangements
Fusion: TCGACRLS1 SEL1L2
Fusion: TCGATASP1 SEL1L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEL1L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEL1L2
dbVarSEL1L2
ClinVarSEL1L2
1000_GenomesSEL1L2 
Exome Variant ServerSEL1L2
ExAC (Exome Aggregation Consortium)SEL1L2 (select the gene name)
Genetic variants : HAPMAP80343
Genomic Variants (DGV)SEL1L2 [DGVbeta]
DECIPHERSEL1L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEL1L2 
Mutations
ICGC Data PortalSEL1L2 
TCGA Data PortalSEL1L2 
Broad Tumor PortalSEL1L2
OASIS PortalSEL1L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEL1L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEL1L2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SEL1L2
DgiDB (Drug Gene Interaction Database)SEL1L2
DoCM (Curated mutations)SEL1L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEL1L2 (select a term)
intoGenSEL1L2
Cancer3DSEL1L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614289   
Orphanet
MedgenSEL1L2
Genetic Testing Registry SEL1L2
NextProtQ5TEA6 [Medical]
TSGene80343
GENETestsSEL1L2
Target ValidationSEL1L2
Huge Navigator SEL1L2 [HugePedia]
snp3D : Map Gene to Disease80343
BioCentury BCIQSEL1L2
ClinGenSEL1L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80343
Chemical/Pharm GKB GenePA162402870
Clinical trialSEL1L2
Miscellaneous
canSAR (ICR)SEL1L2 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEL1L2
EVEXSEL1L2
GoPubMedSEL1L2
iHOPSEL1L2
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 13:37:29 CEST 2017

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