Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SEH1L (SEH1 like nucleoporin)

Identity

Alias_namesSEH1-like (S. cerevisiae)
SEH1-like nucleoporin
Alias_symbol (synonym)SEH1A
SEH1B
Seh1
SEC13L
Other alias
HGNC (Hugo) SEH1L
LocusID (NCBI) 81929
Atlas_Id 73099
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 12947984 and ends at 12987536 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SEH1L (18p11.21) / MTCH1 (6p21.2)SEH1L (18p11.21) / SEH1L (18p11.21)

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)SEH1L   30379
Cards
Entrez_Gene (NCBI)SEH1L  81929  SEH1 like nucleoporin
AliasesSEC13L; SEH1A; SEH1B; Seh1
GeneCards (Weizmann)SEH1L
Ensembl hg19 (Hinxton)ENSG00000085415 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000085415 [Gene_View]  ENSG00000085415 [Sequence]  chr18:12947984-12987536 [Contig_View]  SEH1L [Vega]
ICGC DataPortalENSG00000085415
TCGA cBioPortalSEH1L
AceView (NCBI)SEH1L
Genatlas (Paris)SEH1L
WikiGenes81929
SOURCE (Princeton)SEH1L
Genetics Home Reference (NIH)SEH1L
Genomic and cartography
GoldenPath hg38 (UCSC)SEH1L  -     chr18:12947984-12987536 +  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEH1L  -     18p11.21   [Description]    (hg19-Feb_2009)
GoldenPathSEH1L - 18p11.21 [CytoView hg19]  SEH1L - 18p11.21 [CytoView hg38]
ImmunoBaseENSG00000085415
Mapping of homologs : NCBISEH1L [Mapview hg19]  SEH1L [Mapview hg38]
OMIM609263   
Gene and transcription
Genbank (Entrez)AF136976 AF255625 AF431970 AF514996 AK056940
RefSeq transcript (Entrez)NM_001013437 NM_031216
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEH1L
Cluster EST : UnigeneHs.301048 [ NCBI ]
CGAP (NCI)Hs.301048
Alternative Splicing GalleryENSG00000085415
Gene ExpressionSEH1L [ NCBI-GEO ]   SEH1L [ EBI - ARRAY_EXPRESS ]   SEH1L [ SEEK ]   SEH1L [ MEM ]
Gene Expression Viewer (FireBrowse)SEH1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81929
GTEX Portal (Tissue expression)SEH1L
Human Protein AtlasENSG00000085415-SEH1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EE3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EE3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EE3
Splice isoforms : SwissVarQ96EE3
PhosPhoSitePlusQ96EE3
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    Nucleoporin_Seh1    Sec13/Seh1_fam    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)SEH1L
DMDM Disease mutations81929
Blocks (Seattle)SEH1L
PDB (RSDB)5A9Q   
PDB Europe5A9Q   
PDB (PDBSum)5A9Q   
PDB (IMB)5A9Q   
Structural Biology KnowledgeBase5A9Q   
SCOP (Structural Classification of Proteins)5A9Q   
CATH (Classification of proteins structures)5A9Q   
SuperfamilyQ96EE3
Human Protein Atlas [tissue]ENSG00000085415-SEH1L [tissue]
Peptide AtlasQ96EE3
HPRD15319
IPIIPI00220609   IPI00185533   
Protein Interaction databases
DIP (DOE-UCLA)Q96EE3
IntAct (EBI)Q96EE3
FunCoupENSG00000085415
BioGRIDSEH1L
STRING (EMBL)SEH1L
ZODIACSEH1L
Ontologies - Pathways
QuickGOQ96EE3
Ontology : AmiGOkinetochore  condensed chromosome kinetochore  cytokine production involved in inflammatory response  structural molecule activity  protein binding  nuclear envelope  lysosomal membrane  cytosol  regulation of glycolytic process  mRNA export from nucleus  tRNA export from nucleus  nuclear pore organization  mitotic metaphase plate congression  viral process  protein sumoylation  viral transcription  nuclear pore outer ring  nuclear pore outer ring  nuclear pore outer ring  positive regulation of TOR signaling  cellular response to amino acid starvation  cellular protein-containing complex localization  cellular protein-containing complex localization  Seh1-associated complex  host cell  defense response to Gram-positive bacterium  cell division  attachment of mitotic spindle microtubules to kinetochore  regulation of gene silencing by miRNA  GATOR2 complex  intracellular transport of virus  regulation of cellular response to heat  positive regulation of TORC1 signaling  positive regulation of TORC1 signaling  
Ontology : EGO-EBIkinetochore  condensed chromosome kinetochore  cytokine production involved in inflammatory response  structural molecule activity  protein binding  nuclear envelope  lysosomal membrane  cytosol  regulation of glycolytic process  mRNA export from nucleus  tRNA export from nucleus  nuclear pore organization  mitotic metaphase plate congression  viral process  protein sumoylation  viral transcription  nuclear pore outer ring  nuclear pore outer ring  nuclear pore outer ring  positive regulation of TOR signaling  cellular response to amino acid starvation  cellular protein-containing complex localization  cellular protein-containing complex localization  Seh1-associated complex  host cell  defense response to Gram-positive bacterium  cell division  attachment of mitotic spindle microtubules to kinetochore  regulation of gene silencing by miRNA  GATOR2 complex  intracellular transport of virus  regulation of cellular response to heat  positive regulation of TORC1 signaling  positive regulation of TORC1 signaling  
NDEx NetworkSEH1L
Atlas of Cancer Signalling NetworkSEH1L
Wikipedia pathwaysSEH1L
Orthology - Evolution
OrthoDB81929
GeneTree (enSembl)ENSG00000085415
Phylogenetic Trees/Animal Genes : TreeFamSEH1L
HOGENOMQ96EE3
Homologs : HomoloGeneSEH1L
Homology/Alignments : Family Browser (UCSC)SEH1L
Gene fusions - Rearrangements
Fusion : QuiverSEH1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEH1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEH1L
dbVarSEH1L
ClinVarSEH1L
1000_GenomesSEH1L 
Exome Variant ServerSEH1L
ExAC (Exome Aggregation Consortium)ENSG00000085415
GNOMAD BrowserENSG00000085415
Varsome BrowserSEH1L
Genetic variants : HAPMAP81929
Genomic Variants (DGV)SEH1L [DGVbeta]
DECIPHERSEH1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEH1L 
Mutations
ICGC Data PortalSEH1L 
TCGA Data PortalSEH1L 
Broad Tumor PortalSEH1L
OASIS PortalSEH1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEH1L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSEH1L
Mutations and Diseases : HGMDSEH1L
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
BioMutasearch SEH1L
DgiDB (Drug Gene Interaction Database)SEH1L
DoCM (Curated mutations)SEH1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEH1L (select a term)
intoGenSEH1L
Cancer3DSEH1L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609263   
Orphanet
DisGeNETSEH1L
MedgenSEH1L
Genetic Testing Registry SEH1L
NextProtQ96EE3 [Medical]
TSGene81929
GENETestsSEH1L
Target ValidationSEH1L
Huge Navigator SEH1L [HugePedia]
snp3D : Map Gene to Disease81929
BioCentury BCIQSEH1L
ClinGenSEH1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81929
Chemical/Pharm GKB GenePA134912135
Clinical trialSEH1L
Miscellaneous
canSAR (ICR)SEH1L (select the gene name)
DataMed IndexSEH1L
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEH1L
EVEXSEH1L
GoPubMedSEH1L
iHOPSEH1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 16:04:51 CEST 2019
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