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PCSK7 (proprotein convertase subtilisin/kexin type 7)

Identity

Alias_symbol (synonym)PC7
PC8
LPC
SPC7
Other alias
HGNC (Hugo) PCSK7
LocusID (NCBI) 9159
Atlas_Id 41672
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117205071 and ends at 117232525 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DGKZ (11p11.2) / PCSK7 (11q23.3)IGH (14q32.33) / PCSK7 (11q23.3)IGHG1 (14q32.33) / PCSK7 (11q23.3)
LPGAT1 (1q32.3) / PCSK7 (11q23.3)PCSK7 (11q23.3) / IGH (14q32.33)PCSK7 (11q23.3) / PCSK7 (11q23.3)
PCSK7 (11q23.3) / XPO6 (16p11.2)SIK3 (11q23.3) / PCSK7 (11q23.3)

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)PCSK7   8748
Cards
Entrez_Gene (NCBI)PCSK7  9159  proprotein convertase subtilisin/kexin type 7
AliasesLPC; PC7; PC8; SPC7
GeneCards (Weizmann)PCSK7
Ensembl hg19 (Hinxton)ENSG00000160613 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160613 [Gene_View]  chr11:117205071-117232525 [Contig_View]  PCSK7 [Vega]
ICGC DataPortalENSG00000160613
TCGA cBioPortalPCSK7
AceView (NCBI)PCSK7
Genatlas (Paris)PCSK7
WikiGenes9159
SOURCE (Princeton)PCSK7
Genetics Home Reference (NIH)PCSK7
Genomic and cartography
GoldenPath hg38 (UCSC)PCSK7  -     chr11:117205071-117232525 -  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCSK7  -     11q23.3   [Description]    (hg19-Feb_2009)
EnsemblPCSK7 - 11q23.3 [CytoView hg19]  PCSK7 - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBIPCSK7 [Mapview hg19]  PCSK7 [Mapview hg38]
OMIM604872   
Gene and transcription
Genbank (Entrez)AB231710 AB231711 AB231712 AK027156 AK097207
RefSeq transcript (Entrez)NM_004716
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCSK7
Cluster EST : UnigeneHs.648612 [ NCBI ]
CGAP (NCI)Hs.648612
Alternative Splicing GalleryENSG00000160613
Gene ExpressionPCSK7 [ NCBI-GEO ]   PCSK7 [ EBI - ARRAY_EXPRESS ]   PCSK7 [ SEEK ]   PCSK7 [ MEM ]
Gene Expression Viewer (FireBrowse)PCSK7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9159
GTEX Portal (Tissue expression)PCSK7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16549   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16549  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16549
Splice isoforms : SwissVarQ16549
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
PhosPhoSitePlusQ16549
Domaine pattern : Prosite (Expaxy)P_HOMO_B (PS51829)    SUBTILASE_HIS (PS00137)    SUBTILASE_SER (PS00138)   
Domains : Interpro (EBI)Galactose-bd-like    Kexin/furin    Peptidase_S8/S53_dom    Peptidase_S8_His-AS    Peptidase_S8_Ser-AS    Peptidase_S8_subtilisin-rel    Propept_inh    PrprotnconvertsP    S8_pro-domain   
Domain families : Pfam (Sanger)P_proprotein (PF01483)    Peptidase_S8 (PF00082)    S8_pro-domain (PF16470)   
Domain families : Pfam (NCBI)pfam01483    pfam00082    pfam16470   
Conserved Domain (NCBI)PCSK7
DMDM Disease mutations9159
Blocks (Seattle)PCSK7
SuperfamilyQ16549
Human Protein AtlasENSG00000160613
Peptide AtlasQ16549
HPRD05339
IPIIPI00101379   IPI01009650   IPI00980465   IPI00976526   IPI00975941   
Protein Interaction databases
DIP (DOE-UCLA)Q16549
IntAct (EBI)Q16549
FunCoupENSG00000160613
BioGRIDPCSK7
STRING (EMBL)PCSK7
ZODIACPCSK7
Ontologies - Pathways
QuickGOQ16549
Ontology : AmiGOserine-type endopeptidase activity  peptidase activity  protein processing  peptide hormone processing  integral component of Golgi membrane  
Ontology : EGO-EBIserine-type endopeptidase activity  peptidase activity  protein processing  peptide hormone processing  integral component of Golgi membrane  
NDEx NetworkPCSK7
Atlas of Cancer Signalling NetworkPCSK7
Wikipedia pathwaysPCSK7
Orthology - Evolution
OrthoDB9159
GeneTree (enSembl)ENSG00000160613
Phylogenetic Trees/Animal Genes : TreeFamPCSK7
HOVERGENQ16549
HOGENOMQ16549
Homologs : HomoloGenePCSK7
Homology/Alignments : Family Browser (UCSC)PCSK7
Gene fusions - Rearrangements
Fusion : MitelmanIGH/PCSK7 [14q32.33/11q23.3]  [t(11;14)(q23;q32)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCSK7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCSK7
dbVarPCSK7
ClinVarPCSK7
1000_GenomesPCSK7 
Exome Variant ServerPCSK7
ExAC (Exome Aggregation Consortium)PCSK7 (select the gene name)
Genetic variants : HAPMAP9159
Genomic Variants (DGV)PCSK7 [DGVbeta]
DECIPHERPCSK7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCSK7 
Mutations
ICGC Data PortalPCSK7 
TCGA Data PortalPCSK7 
Broad Tumor PortalPCSK7
OASIS PortalPCSK7 [ Somatic mutations - Copy number]
Cancer Gene: CensusPCSK7 
Somatic Mutations in Cancer : COSMICPCSK7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCSK7
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PCSK7
DgiDB (Drug Gene Interaction Database)PCSK7
DoCM (Curated mutations)PCSK7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCSK7 (select a term)
intoGenPCSK7
Cancer3DPCSK7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604872   
Orphanet
MedgenPCSK7
Genetic Testing Registry PCSK7
NextProtQ16549 [Medical]
TSGene9159
GENETestsPCSK7
Target ValidationPCSK7
Huge Navigator PCSK7 [HugePedia]
snp3D : Map Gene to Disease9159
BioCentury BCIQPCSK7
ClinGenPCSK7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9159
Chemical/Pharm GKB GenePA33094
Clinical trialPCSK7
Miscellaneous
canSAR (ICR)PCSK7 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCSK7
EVEXPCSK7
GoPubMedPCSK7
iHOPPCSK7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:10:16 CEST 2017

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