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SIL1 (SIL1 nucleotide exchange factor)

Identity

Alias_namesMSS
Marinesco-Sjogren syndrome
SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
Alias_symbol (synonym)BAP
ULG5
Other alias
HGNC (Hugo) SIL1
LocusID (NCBI) 64374
Atlas_Id 55779
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 138946721 and ends at 139198376 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)
CLTB (5q35.2) / SIL1 (5q31.2)SIL1 (5q31.2) / ALKBH1 (14q24.3)SIL1 (5q31.2) / CTNNA1 (5q31.2)
SIL1 (5q31.2) / NRG2 (5q31.2)SIL1 (5q31.2) / STK10 (5q35.1)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  SIL1/NRG2 (5q31)
t(5;5)(q31;q35) CLTB/SIL1
t(5;5)(q31;q35) SIL1/STK10

External links

Nomenclature
HGNC (Hugo)SIL1   24624
Cards
Entrez_Gene (NCBI)SIL1  64374  SIL1 nucleotide exchange factor
AliasesBAP; MSS; ULG5
GeneCards (Weizmann)SIL1
Ensembl hg19 (Hinxton)ENSG00000120725 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120725 [Gene_View]  ENSG00000120725 [Sequence]  chr5:138946721-139198376 [Contig_View]  SIL1 [Vega]
ICGC DataPortalENSG00000120725
TCGA cBioPortalSIL1
AceView (NCBI)SIL1
Genatlas (Paris)SIL1
WikiGenes64374
SOURCE (Princeton)SIL1
Genetics Home Reference (NIH)SIL1
Genomic and cartography
GoldenPath hg38 (UCSC)SIL1  -     chr5:138946721-139198376 -  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIL1  -     5q31.2   [Description]    (hg19-Feb_2009)
GoldenPathSIL1 - 5q31.2 [CytoView hg19]  SIL1 - 5q31.2 [CytoView hg38]
ImmunoBaseENSG00000120725
Mapping of homologs : NCBISIL1 [Mapview hg19]  SIL1 [Mapview hg38]
OMIM248800   608005   
Gene and transcription
Genbank (Entrez)AF547994 AJ299442 AK074624 AK075177 AY358950
RefSeq transcript (Entrez)NM_001037633 NM_022464
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SIL1
Cluster EST : UnigeneHs.483521 [ NCBI ]
CGAP (NCI)Hs.483521
Alternative Splicing GalleryENSG00000120725
Gene ExpressionSIL1 [ NCBI-GEO ]   SIL1 [ EBI - ARRAY_EXPRESS ]   SIL1 [ SEEK ]   SIL1 [ MEM ]
Gene Expression Viewer (FireBrowse)SIL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64374
GTEX Portal (Tissue expression)SIL1
Human Protein AtlasENSG00000120725-SIL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H173   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H173  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H173
Splice isoforms : SwissVarQ9H173
PhosPhoSitePlusQ9H173
Domains : Interpro (EBI)ARM-like    ARM-type_fold   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SIL1
DMDM Disease mutations64374
Blocks (Seattle)SIL1
SuperfamilyQ9H173
Human Protein Atlas [tissue]ENSG00000120725-SIL1 [tissue]
Peptide AtlasQ9H173
HPRD12150
IPIIPI00296197   IPI00964106   IPI00964791   IPI00965166   IPI00967818   IPI00963948   IPI00964145   IPI00964486   
Protein Interaction databases
DIP (DOE-UCLA)Q9H173
IntAct (EBI)Q9H173
FunCoupENSG00000120725
BioGRIDSIL1
STRING (EMBL)SIL1
ZODIACSIL1
Ontologies - Pathways
QuickGOQ9H173
Ontology : AmiGOadenyl-nucleotide exchange factor activity  protein binding  extracellular space  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  intracellular protein transport  regulation of catalytic activity  unfolded protein binding  
Ontology : EGO-EBIadenyl-nucleotide exchange factor activity  protein binding  extracellular space  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  intracellular protein transport  regulation of catalytic activity  unfolded protein binding  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkSIL1
Atlas of Cancer Signalling NetworkSIL1
Wikipedia pathwaysSIL1
Orthology - Evolution
OrthoDB64374
GeneTree (enSembl)ENSG00000120725
Phylogenetic Trees/Animal Genes : TreeFamSIL1
HOGENOMQ9H173
Homologs : HomoloGeneSIL1
Homology/Alignments : Family Browser (UCSC)SIL1
Gene fusions - Rearrangements
Fusion : QuiverSIL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIL1
dbVarSIL1
ClinVarSIL1
1000_GenomesSIL1 
Exome Variant ServerSIL1
ExAC (Exome Aggregation Consortium)ENSG00000120725
GNOMAD BrowserENSG00000120725
Varsome BrowserSIL1
Genetic variants : HAPMAP64374
Genomic Variants (DGV)SIL1 [DGVbeta]
DECIPHERSIL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSIL1 
Mutations
ICGC Data PortalSIL1 
TCGA Data PortalSIL1 
Broad Tumor PortalSIL1
OASIS PortalSIL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSIL1
Mutations and Diseases : HGMDSIL1
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 SIL1
DgiDB (Drug Gene Interaction Database)SIL1
DoCM (Curated mutations)SIL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIL1 (select a term)
intoGenSIL1
Cancer3DSIL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248800    608005   
Orphanet2277   
DisGeNETSIL1
MedgenSIL1
Genetic Testing Registry SIL1
NextProtQ9H173 [Medical]
TSGene64374
GENETestsSIL1
Target ValidationSIL1
Huge Navigator SIL1 [HugePedia]
snp3D : Map Gene to Disease64374
BioCentury BCIQSIL1
ClinGenSIL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64374
Chemical/Pharm GKB GenePA142670916
Clinical trialSIL1
Miscellaneous
canSAR (ICR)SIL1 (select the gene name)
DataMed IndexSIL1
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIL1
EVEXSIL1
GoPubMedSIL1
iHOPSIL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Nov 13 18:07:27 CET 2019
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