Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GOSR1 (golgi SNAP receptor complex member 1)

Identity

Alias_symbol (synonym)GOS28
P28
GS28
GOS-28
GOLIM2
Other aliasGOS28/P28
HGNC (Hugo) GOSR1
LocusID (NCBI) 9527
Atlas_Id 54339
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 30477408 and ends at 30526814 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)
AIG1 (6q24.2) / GOSR1 (17q11.2)GOSR1 (17q11.2) / AP2B1 (17q12)GOSR1 (17q11.2) / CPD (17q11.2)
GOSR1 (17q11.2) / JUP (17q21.2)GOSR1 (17q11.2) / USP38 (4q31.21)GOSR1 (17q11.2) / ZNF207 (17q11.2)
TANC2 (17q23.2) / GOSR1 (17q11.2)GOSR1 17q11.2 / AP2B1 17q12GOSR1 17q11.2 / JUP 17q21.2
TANC2 17q23.2 / GOSR1 17q11.2

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;17)(q24;q11) AIG1/GOSR1
t(17;17)(q11;q11) GOSR1/ZNF207

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(17;17)(q11;q12) GOSR1/AP2B1
t(17;17)(q11;q21) GOSR1/JUP
t(17;17)(q11;q23) TANC2/GOSR1

External links

Nomenclature
HGNC (Hugo)GOSR1   4430
Cards
Entrez_Gene (NCBI)GOSR1  9527  golgi SNAP receptor complex member 1
AliasesGOLIM2; GOS-28; GOS28; GOS28/P28; 
GS28; P28
GeneCards (Weizmann)GOSR1
Ensembl hg19 (Hinxton)ENSG00000108587 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108587 [Gene_View]  ENSG00000108587 [Sequence]  chr17:30477408-30526814 [Contig_View]  GOSR1 [Vega]
ICGC DataPortalENSG00000108587
TCGA cBioPortalGOSR1
AceView (NCBI)GOSR1
Genatlas (Paris)GOSR1
WikiGenes9527
SOURCE (Princeton)GOSR1
Genetics Home Reference (NIH)GOSR1
Genomic and cartography
GoldenPath hg38 (UCSC)GOSR1  -     chr17:30477408-30526814 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GOSR1  -     17q11.2   [Description]    (hg19-Feb_2009)
EnsemblGOSR1 - 17q11.2 [CytoView hg19]  GOSR1 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIGOSR1 [Mapview hg19]  GOSR1 [Mapview hg38]
OMIM604026   
Gene and transcription
Genbank (Entrez)AF047438 AF073926 AK000606 AK074298 AK128816
RefSeq transcript (Entrez)NM_001007024 NM_001007025 NM_004871
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GOSR1
Cluster EST : UnigeneHs.462680 [ NCBI ]
CGAP (NCI)Hs.462680
Alternative Splicing GalleryENSG00000108587
Gene ExpressionGOSR1 [ NCBI-GEO ]   GOSR1 [ EBI - ARRAY_EXPRESS ]   GOSR1 [ SEEK ]   GOSR1 [ MEM ]
Gene Expression Viewer (FireBrowse)GOSR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9527
GTEX Portal (Tissue expression)GOSR1
Human Protein AtlasENSG00000108587-GOSR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95249   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95249  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95249
Splice isoforms : SwissVarO95249
PhosPhoSitePlusO95249
Domains : Interpro (EBI)Golgi_SNAP_su1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)GOSR1
DMDM Disease mutations9527
Blocks (Seattle)GOSR1
SuperfamilyO95249
Human Protein Atlas [tissue]ENSG00000108587-GOSR1 [tissue]
Peptide AtlasO95249
IPIIPI00029447   IPI00942124   IPI00044920   IPI00479817   IPI00477701   
Protein Interaction databases
DIP (DOE-UCLA)O95249
IntAct (EBI)O95249
FunCoupENSG00000108587
BioGRIDGOSR1
STRING (EMBL)GOSR1
ZODIACGOSR1
Ontologies - Pathways
QuickGOO95249
Ontology : AmiGOGolgi membrane  Golgi membrane  Golgi membrane  SNAP receptor activity  SNAP receptor activity  Golgi apparatus  Golgi medial cisterna  cis-Golgi network  cytosol  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  intra-Golgi vesicle-mediated transport  vesicle fusion  protein transport  membrane  integral component of membrane  transport vesicle  SNARE complex  SNARE complex  retrograde transport, endosome to Golgi  regulation of vesicle targeting, to, from or within Golgi  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  Golgi membrane  SNAP receptor activity  SNAP receptor activity  Golgi apparatus  Golgi medial cisterna  cis-Golgi network  cytosol  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  intra-Golgi vesicle-mediated transport  vesicle fusion  protein transport  membrane  integral component of membrane  transport vesicle  SNARE complex  SNARE complex  retrograde transport, endosome to Golgi  regulation of vesicle targeting, to, from or within Golgi  
Pathways : KEGGSNARE interactions in vesicular transport   
NDEx NetworkGOSR1
Atlas of Cancer Signalling NetworkGOSR1
Wikipedia pathwaysGOSR1
Orthology - Evolution
OrthoDB9527
GeneTree (enSembl)ENSG00000108587
Phylogenetic Trees/Animal Genes : TreeFamGOSR1
HOGENOMO95249
Homologs : HomoloGeneGOSR1
Homology/Alignments : Family Browser (UCSC)GOSR1
Gene fusions - Rearrangements
Fusion : MitelmanGOSR1/AP2B1 [17q11.2/17q12]  
Fusion : MitelmanGOSR1/JUP [17q11.2/17q21.2]  [t(17;17)(q11;q21)]  
Fusion : MitelmanGOSR1/ZNF207 [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion : MitelmanTANC2/GOSR1 [17q23.2/17q11.2]  [t(17;17)(q11;q23)]  
Fusion PortalGOSR1 17q11.2 AP2B1 17q12 LUAD
Fusion PortalGOSR1 17q11.2 JUP 17q21.2 LGG
Fusion PortalTANC2 17q23.2 GOSR1 17q11.2 BRCA
Fusion : QuiverGOSR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGOSR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GOSR1
dbVarGOSR1
ClinVarGOSR1
1000_GenomesGOSR1 
Exome Variant ServerGOSR1
ExAC (Exome Aggregation Consortium)ENSG00000108587
GNOMAD BrowserENSG00000108587
Varsome BrowserGOSR1
Genetic variants : HAPMAP9527
Genomic Variants (DGV)GOSR1 [DGVbeta]
DECIPHERGOSR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGOSR1 
Mutations
ICGC Data PortalGOSR1 
TCGA Data PortalGOSR1 
Broad Tumor PortalGOSR1
OASIS PortalGOSR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGOSR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGOSR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GOSR1
DgiDB (Drug Gene Interaction Database)GOSR1
DoCM (Curated mutations)GOSR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GOSR1 (select a term)
intoGenGOSR1
Cancer3DGOSR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604026   
Orphanet
DisGeNETGOSR1
MedgenGOSR1
Genetic Testing Registry GOSR1
NextProtO95249 [Medical]
TSGene9527
GENETestsGOSR1
Target ValidationGOSR1
Huge Navigator GOSR1 [HugePedia]
snp3D : Map Gene to Disease9527
BioCentury BCIQGOSR1
ClinGenGOSR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9527
Chemical/Pharm GKB GenePA28815
Clinical trialGOSR1
Miscellaneous
canSAR (ICR)GOSR1 (select the gene name)
DataMed IndexGOSR1
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGOSR1
EVEXGOSR1
GoPubMedGOSR1
iHOPGOSR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 17 18:14:46 CET 2019
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