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SEPN1 (selenoprotein N, 1)

Identity

Other aliasCFTD
MDRS1
RSMD1
RSS
SELN
HGNC (Hugo) SEPN1
LocusID (NCBI) 57190
Atlas_Id 73120
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 26126667 and ends at 26144713 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SEPN1 (1p36.11) / FTSJ1 (Xp11.23)TM9SF1 (14q12) / SEPN1 (1p36.11)

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)SEPN1   15999
Cards
Entrez_Gene (NCBI)SEPN1  57190  selenoprotein N, 1
AliasesCFTD; MDRS1; RSMD1; RSS; 
SELN
GeneCards (Weizmann)SEPN1
Ensembl hg19 (Hinxton)ENSG00000162430 [Gene_View]  chr1:26126667-26144713 [Contig_View]  SEPN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162430 [Gene_View]  chr1:26126667-26144713 [Contig_View]  SEPN1 [Vega]
ICGC DataPortalENSG00000162430
TCGA cBioPortalSEPN1
AceView (NCBI)SEPN1
Genatlas (Paris)SEPN1
WikiGenes57190
SOURCE (Princeton)SEPN1
Genetics Home Reference (NIH)SEPN1
Genomic and cartography
GoldenPath hg19 (UCSC)SEPN1  -     chr1:26126667-26144713 +  1p36.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SEPN1  -     1p36.11   [Description]    (hg38-Dec_2013)
EnsemblSEPN1 - 1p36.11 [CytoView hg19]  SEPN1 - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBISEPN1 [Mapview hg19]  SEPN1 [Mapview hg38]
OMIM255310   602771   606210   
Gene and transcription
Genbank (Entrez)AA613025 AF166125 AJ306399 AK172860 AK308457
RefSeq transcript (Entrez)NM_020451 NM_206926
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_009930 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)SEPN1
Cluster EST : UnigeneHs.323396 [ NCBI ]
CGAP (NCI)Hs.323396
Alternative Splicing GalleryENSG00000162430
Gene ExpressionSEPN1 [ NCBI-GEO ]   SEPN1 [ EBI - ARRAY_EXPRESS ]   SEPN1 [ SEEK ]   SEPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57190
GTEX Portal (Tissue expression)SEPN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZV5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZV5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZV5
Splice isoforms : SwissVarQ9NZV5
PhosPhoSitePlusQ9NZV5
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF_hand_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SEPN1
DMDM Disease mutations57190
Blocks (Seattle)SEPN1
SuperfamilyQ9NZV5
Human Protein AtlasENSG00000162430
Peptide AtlasQ9NZV5
HPRD05867
IPIIPI00413784   IPI00455204   IPI01012496   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZV5
IntAct (EBI)Q9NZV5
FunCoupENSG00000162430
BioGRIDSEPN1
STRING (EMBL)SEPN1
ZODIACSEPN1
Ontologies - Pathways
QuickGOQ9NZV5
Ontology : AmiGOmolecular_function  calcium ion binding  protein binding  endoplasmic reticulum membrane  biological_process  
Ontology : EGO-EBImolecular_function  calcium ion binding  protein binding  endoplasmic reticulum membrane  biological_process  
NDEx NetworkSEPN1
Atlas of Cancer Signalling NetworkSEPN1
Wikipedia pathwaysSEPN1
Orthology - Evolution
OrthoDB57190
GeneTree (enSembl)ENSG00000162430
Phylogenetic Trees/Animal Genes : TreeFamSEPN1
HOVERGENQ9NZV5
HOGENOMQ9NZV5
Homologs : HomoloGeneSEPN1
Homology/Alignments : Family Browser (UCSC)SEPN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPN1
dbVarSEPN1
ClinVarSEPN1
1000_GenomesSEPN1 
Exome Variant ServerSEPN1
ExAC (Exome Aggregation Consortium)SEPN1 (select the gene name)
Genetic variants : HAPMAP57190
Genomic Variants (DGV)SEPN1 [DGVbeta]
DECIPHER (Syndromes)1:26126667-26144713  ENSG00000162430
CONAN: Copy Number AnalysisSEPN1 
Mutations
ICGC Data PortalSEPN1 
TCGA Data PortalSEPN1 
Broad Tumor PortalSEPN1
OASIS PortalSEPN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEPN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSEPN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SEPN1
DgiDB (Drug Gene Interaction Database)SEPN1
DoCM (Curated mutations)SEPN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPN1 (select a term)
intoGenSEPN1
Cancer3DSEPN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM255310    602771    606210   
Orphanet493    21792    11618    12866   
MedgenSEPN1
Genetic Testing Registry SEPN1
NextProtQ9NZV5 [Medical]
TSGene57190
GENETestsSEPN1
Huge Navigator SEPN1 [HugePedia]
snp3D : Map Gene to Disease57190
BioCentury BCIQSEPN1
ClinGenSEPN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57190
Chemical/Pharm GKB GenePA38079
Clinical trialSEPN1
Miscellaneous
canSAR (ICR)SEPN1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPN1
EVEXSEPN1
GoPubMedSEPN1
iHOPSEPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:42:49 CET 2017

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