Atlas of Genetics and Cytogenetics in Oncology and Haematology

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COG1 (component of oligomeric golgi complex 1)

Identity

Alias_namesLDLB
low density lipoprotein receptor defect B complementing
Alias_symbol (synonym)KIAA1381
Other aliasCDG2G
HGNC (Hugo) COG1
LocusID (NCBI) 9382
Atlas_Id 61975
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 73193034 and ends at 73208506 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)
COG1 (17q25.1) / FAM104A (17q25.1)COG1 (17q25.1) / RNA28S5 ()

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(X;17)(q22;q25) COG1/RNA28S5
t(X;17)(q22;q25) COG1/RNA28S5

External links

Nomenclature
HGNC (Hugo)COG1   6545
Cards
Entrez_Gene (NCBI)COG1  9382  component of oligomeric golgi complex 1
AliasesCDG2G; LDLB
GeneCards (Weizmann)COG1
Ensembl hg19 (Hinxton)ENSG00000166685 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166685 [Gene_View]  ENSG00000166685 [Sequence]  chr17:73193034-73208506 [Contig_View]  COG1 [Vega]
ICGC DataPortalENSG00000166685
TCGA cBioPortalCOG1
AceView (NCBI)COG1
Genatlas (Paris)COG1
WikiGenes9382
SOURCE (Princeton)COG1
Genetics Home Reference (NIH)COG1
Genomic and cartography
GoldenPath hg38 (UCSC)COG1  -     chr17:73193034-73208506 +  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COG1  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblCOG1 - 17q25.1 [CytoView hg19]  COG1 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBICOG1 [Mapview hg19]  COG1 [Mapview hg38]
OMIM606973   611209   
Gene and transcription
Genbank (Entrez)AB037802 AK025633 AK098224 AL359611 BC021985
RefSeq transcript (Entrez)NM_018714
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COG1
Cluster EST : UnigeneHs.103555 [ NCBI ]
CGAP (NCI)Hs.103555
Alternative Splicing GalleryENSG00000166685
Gene ExpressionCOG1 [ NCBI-GEO ]   COG1 [ EBI - ARRAY_EXPRESS ]   COG1 [ SEEK ]   COG1 [ MEM ]
Gene Expression Viewer (FireBrowse)COG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9382
GTEX Portal (Tissue expression)COG1
Human Protein AtlasENSG00000166685-COG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WTW3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WTW3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WTW3
Splice isoforms : SwissVarQ8WTW3
PhosPhoSitePlusQ8WTW3
Domains : Interpro (EBI)COG1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)COG1
DMDM Disease mutations9382
Blocks (Seattle)COG1
SuperfamilyQ8WTW3
Human Protein Atlas [tissue]ENSG00000166685-COG1 [tissue]
Peptide AtlasQ8WTW3
HPRD07371
IPIIPI00141561   IPI00794563   
Protein Interaction databases
DIP (DOE-UCLA)Q8WTW3
IntAct (EBI)Q8WTW3
FunCoupENSG00000166685
BioGRIDCOG1
STRING (EMBL)COG1
ZODIACCOG1
Ontologies - Pathways
QuickGOQ8WTW3
Ontology : AmiGOGolgi membrane  protein binding  Golgi apparatus  ER to Golgi vesicle-mediated transport  intra-Golgi vesicle-mediated transport  Golgi organization  protein transport  Golgi transport complex  Golgi transport complex  trans-Golgi network membrane  
Ontology : EGO-EBIGolgi membrane  protein binding  Golgi apparatus  ER to Golgi vesicle-mediated transport  intra-Golgi vesicle-mediated transport  Golgi organization  protein transport  Golgi transport complex  Golgi transport complex  trans-Golgi network membrane  
NDEx NetworkCOG1
Atlas of Cancer Signalling NetworkCOG1
Wikipedia pathwaysCOG1
Orthology - Evolution
OrthoDB9382
GeneTree (enSembl)ENSG00000166685
Phylogenetic Trees/Animal Genes : TreeFamCOG1
HOVERGENQ8WTW3
HOGENOMQ8WTW3
Homologs : HomoloGeneCOG1
Homology/Alignments : Family Browser (UCSC)COG1
Gene fusions - Rearrangements
Fusion : QuiverCOG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COG1
dbVarCOG1
ClinVarCOG1
1000_GenomesCOG1 
Exome Variant ServerCOG1
ExAC (Exome Aggregation Consortium)ENSG00000166685
GNOMAD BrowserENSG00000166685
Varsome BrowserCOG1
Genetic variants : HAPMAP9382
Genomic Variants (DGV)COG1 [DGVbeta]
DECIPHERCOG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOG1 
Mutations
ICGC Data PortalCOG1 
TCGA Data PortalCOG1 
Broad Tumor PortalCOG1
OASIS PortalCOG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOG1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOG1
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COG1
DgiDB (Drug Gene Interaction Database)COG1
DoCM (Curated mutations)COG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COG1 (select a term)
intoGenCOG1
Cancer3DCOG1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606973    611209   
Orphanet20065   
DisGeNETCOG1
MedgenCOG1
Genetic Testing Registry COG1
NextProtQ8WTW3 [Medical]
TSGene9382
GENETestsCOG1
Target ValidationCOG1
Huge Navigator COG1 [HugePedia]
snp3D : Map Gene to Disease9382
BioCentury BCIQCOG1
ClinGenCOG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9382
Chemical/Pharm GKB GenePA26696
Clinical trialCOG1
Miscellaneous
canSAR (ICR)COG1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOG1
EVEXCOG1
GoPubMedCOG1
iHOPCOG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:41:05 CEST 2018
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